#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
USP7	7874	broad.mit.edu	37	16	8998351	8998351	+	Missense_Mutation	SNP	T	T	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr16:8998351T>C	ENST00000344836.4	-	15	1843	c.1645A>G	c.(1645-1647)Agg>Ggg	p.R549G	USP7_ENST00000535863.1_Missense_Mutation_p.R450G|USP7_ENST00000381886.4_Missense_Mutation_p.R533G	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	549					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GCCTCGATCCTTTTCTCTTCT	0.557																																						ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1645-1647)Agg>Ggg		ubiquitin specific peptidase 7 (herpes virus-associated)							115.0	97.0	103.0					16																	8998351		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8998351T>C	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1645A>G	16.37:g.8998351T>C	ENSP00000343535:p.Arg549Gly					USP7_ENST00000381886.4_Missense_Mutation_p.R533G|USP7_ENST00000535863.1_Missense_Mutation_p.R450G	p.R549G	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			15	1843	-			549					A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.1645A>G	CCDS32385.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.77|15.77	2.930296|2.930296	0.52866|0.52866	.|.	.|.	ENSG00000187555|ENSG00000187555	ENST00000542333|ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549	T|T;T	0.06849|0.05382	3.25|3.45;3.45	5.09|5.09	3.95|3.95	0.45737|0.45737	.|Peptidase C19  domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.11110|0.11110	0.0271|0.0271	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	.|P;P	.|0.47841	.|0.833;0.901	.|P;P	.|0.44696	.|0.458;0.458	T|T	0.05767|0.05767	-1.0865|-1.0865	7|10	0.16896|0.37606	T|T	0.51|0.19	.|.	11.528|11.528	0.50591|0.50591	0.0:0.0:0.2783:0.7217|0.0:0.0:0.2783:0.7217	.|.	.|549;533	.|Q93009;B7Z815	.|UBP7_HUMAN;.	R|G	477|549;557;450;450	ENSP00000439272:K477R|ENSP00000343535:R549G;ENSP00000443646:R450G	ENSP00000439272:K477R|ENSP00000343535:R549G	K|R	-|-	2|1	0|2	USP7|USP7	8905852|8905852	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.990000|0.990000	0.78478|0.78478	4.041000|4.041000	0.57339|0.57339	1.916000|1.916000	0.55485|0.55485	0.374000|0.374000	0.22700|0.22700	AAG|AGG		0.557	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			5	70	0	0	0	1	0	5	70				
ZFP42	132625	broad.mit.edu	37	4	188924394	188924394	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr4:188924394G>C	ENST00000326866.4	+	4	841	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	ZFP42_ENST00000509524.1_Missense_Mutation_p.E145Q	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	145					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TGAGTATTCTGAGTACATGAC	0.443																																						ENST00000326866.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(433-435)Gag>Cag		ZFP42 zinc finger protein							99.0	111.0	107.0					4																	188924394		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924394G>C	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.433G>C	4.37:g.188924394G>C	ENSP00000317686:p.Glu145Gln					ZFP42_ENST00000509524.1_Missense_Mutation_p.E145Q	p.E145Q	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	4	841	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	145					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.433G>C	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400739	0.62177	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.13538	2.58;2.58	4.31	2.57	0.30868	.	0.193051	0.42821	D	0.000644	T	0.24851	0.0603	L	0.55990	1.75	0.24686	N	0.993335	D	0.69078	0.997	D	0.66716	0.946	T	0.04454	-1.0950	10	0.27082	T	0.32	.	8.5994	0.33736	0.1933:0.0:0.8067:0.0	.	145	Q96MM3	ZFP42_HUMAN	Q	145	ENSP00000317686:E145Q;ENSP00000424662:E145Q	ENSP00000317686:E145Q	E	+	1	0	ZFP42	189161388	0.963000	0.33076	0.006000	0.13384	0.016000	0.09150	1.904000	0.39868	0.750000	0.32877	0.655000	0.94253	GAG		0.443	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		17	181	0	0	0	1	0	17	181				
FAM71B	153745	broad.mit.edu	37	5	156592712	156592712	+	Silent	SNP	G	G	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr5:156592712G>C	ENST00000302938.4	-	1	563	c.468C>G	c.(466-468)ccC>ccG	p.P156P		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	156						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTCAGAAGAGGGACACAACT	0.468																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(466-468)ccC>ccG		family with sequence similarity 71, member B							121.0	125.0	124.0					5																	156592712		2203	4300	6503	SO:0001819	synonymous_variant	153745					nucleus		g.chr5:156592712G>C		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.468C>G	5.37:g.156592712G>C							p.P156P	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	563	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	156					Q1EDD9|Q8TC64|Q96LY8	Silent	SNP	ENST00000302938.4	37	c.468C>G	CCDS4335.1																																																																																				0.468	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		9	88	0	0	0	1	0	9	88				
FRMD5	84978	broad.mit.edu	37	15	44166378	44166378	+	Missense_Mutation	SNP	T	T	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr15:44166378T>G	ENST00000417257.1	-	14	1594	c.1418A>C	c.(1417-1419)gAg>gCg	p.E473A	FRMD5_ENST00000402883.1_Missense_Mutation_p.E473A|FRMD5_ENST00000484674.1_Missense_Mutation_p.E379A	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	473						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		CCCAAGGGCCTCCACCTCTGT	0.577																																						ENST00000417257.1																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(1417-1419)gAg>gCg		FERM domain containing 5							73.0	72.0	72.0					15																	44166378		2198	4298	6496	SO:0001583	missense	84978					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr15:44166378T>G	BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.1418A>C	15.37:g.44166378T>G	ENSP00000403067:p.Glu473Ala					FRMD5_ENST00000402883.1_Missense_Mutation_p.E473A|FRMD5_ENST00000484674.1_Missense_Mutation_p.E379A	p.E473A	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)	14	1594	-		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)	473					Q8NBG4	Missense_Mutation	SNP	ENST00000417257.1	37	c.1418A>C	CCDS10107.2	.	.	.	.	.	.	.	.	.	.	T	10.68	1.419179	0.25552	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	D;D;D	0.86030	-1.82;-1.92;-2.06	5.32	5.32	0.75619	.	0.181464	0.47455	D	0.000228	T	0.76040	0.3932	N	0.20807	0.61	0.38552	D	0.949474	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.73248	-0.4043	10	0.42905	T	0.14	.	14.2685	0.66138	0.0:0.0:0.0:1.0	.	458;473;473;146	Q7Z6J6-2;Q7Z6J6;B5MC67;A8K1U8	.;FRMD5_HUMAN;.;.	A	473;473;439	ENSP00000403067:E473A;ENSP00000384142:E473A;ENSP00000399684:E439A	ENSP00000384142:E473A	E	-	2	0	FRMD5	41953670	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.527000	0.45615	2.222000	0.72286	0.533000	0.62120	GAG		0.577	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	NM_032892		18	67	0	0	0	1	0	18	67				
DNAJC3	5611	broad.mit.edu	37	13	96375576	96375576	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr13:96375576C>T	ENST00000602402.1	+	3	391	c.274C>T	c.(274-276)Cct>Tct	p.P92S	DNAJC3_ENST00000376795.6_Missense_Mutation_p.P92S	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	92					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			AGCTGCACTTCCTGATTTAAC	0.348																																						ENST00000602402.1																			0				NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(274-276)Cct>Tct		DnaJ (Hsp40) homolog, subfamily C, member 3							123.0	122.0	123.0					13																	96375576		2203	4300	6503	SO:0001583	missense	5611				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding	g.chr13:96375576C>T	U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.274C>T	13.37:g.96375576C>T	ENSP00000473631:p.Pro92Ser					DNAJC3_ENST00000376795.6_Missense_Mutation_p.P92S	p.P92S	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.126)		3	391	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		92					Q86WT9|Q8N4N2	Missense_Mutation	SNP	ENST00000602402.1	37	c.274C>T	CCDS9479.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109849	0.56398	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.61	5.61	0.85477	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.049350	0.85682	D	0.000000	T	0.43122	0.1233	N	0.20401	0.57	0.80722	D	1	B;B	0.20368	0.044;0.044	B;B	0.18561	0.022;0.022	T	0.33599	-0.9862	9	0.10377	T	0.69	-23.6626	18.406	0.90536	0.0:1.0:0.0:0.0	.	92;92	A8KA82;Q13217	.;DNJC3_HUMAN	S	92	.	ENSP00000365991:P92S	P	+	1	0	DNAJC3	95173577	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.802000	0.75175	2.641000	0.89580	0.655000	0.94253	CCT		0.348	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045504.3			11	138	0	0	0	1	0	11	138				
SIPA1L2	57568	broad.mit.edu	37	1	232649841	232649841	+	Silent	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr1:232649841C>T	ENST00000366630.1	-	2	1603	c.1245G>A	c.(1243-1245)gaG>gaA	p.E415E	SIPA1L2_ENST00000262861.4_Silent_p.E415E			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	415					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCCCTCCAGTCTCATTTCTAA	0.522																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(1243-1245)gaG>gaA		signal-induced proliferation-associated 1 like 2							155.0	151.0	153.0					1																	232649841		1967	4141	6108	SO:0001819	synonymous_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232649841C>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1245G>A	1.37:g.232649841C>T						SIPA1L2_ENST00000262861.4_Silent_p.E415E	p.E415E			Q9P2F8	SI1L2_HUMAN			2	1603	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	415					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	c.1245G>A	CCDS41474.1																																																																																				0.522	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		14	252	0	0	0	1	0	14	252				
MTCL1	23255	broad.mit.edu	37	18	8784583	8784583	+	Silent	SNP	G	G	A	rs115241522		TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr18:8784583G>A	ENST00000306329.11	+	5	2553	c.2553G>A	c.(2551-2553)ccG>ccA	p.P851P	SOGA2_ENST00000359865.3_Silent_p.P491P|SOGA2_ENST00000517570.1_Silent_p.P491P|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Silent_p.P491P																							CGCCCTTACCGGGGCCTGGCC	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		16775	0.001		0.0	False		,,,				2504	0.0					ENST00000359865.3																			0											c.(1471-1473)ccG>ccA		SOGA family member 2							44.0	51.0	49.0					18																	8784583		2203	4298	6501	SO:0001819	synonymous_variant	23255							g.chr18:8784583G>A																												ENST00000306329.11:c.2553G>A	18.37:g.8784583G>A						SOGA2_ENST00000517570.1_Silent_p.P491P|SOGA2_ENST00000306329.11_Silent_p.P851P|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Silent_p.P491P	p.P491P	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			6	1615	+			842						Silent	SNP	ENST00000306329.11	37	c.1473G>A																																																																																					0.662	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			5	119	0	0	0	1	0	5	119				
SEC23A	10484	broad.mit.edu	37	14	39536445	39536445	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr14:39536445G>C	ENST00000307712.6	-	10	1676	c.1159C>G	c.(1159-1161)Caa>Gaa	p.Q387E	SEC23A_ENST00000536508.1_Missense_Mutation_p.Q261E|SEC23A_ENST00000537403.1_Missense_Mutation_p.Q185E|SEC23A_ENST00000545328.2_Missense_Mutation_p.Q358E|SEC23A_ENST00000553925.1_5'Flank	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	387					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AAGACTCTTTGAAAAGTTTGT	0.358																																						ENST00000537403.1																			0				kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(553-555)Caa>Gaa		Sec23 homolog A (S. cerevisiae)							104.0	101.0	102.0					14																	39536445		2203	4300	6503	SO:0001583	missense	10484				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	g.chr14:39536445G>C	X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.1159C>G	14.37:g.39536445G>C	ENSP00000306881:p.Gln387Glu					SEC23A_ENST00000545328.2_Missense_Mutation_p.Q358E|SEC23A_ENST00000536508.1_Missense_Mutation_p.Q261E|SEC23A_ENST00000307712.6_Missense_Mutation_p.Q387E	p.Q185E			Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	6	1755	-	Hepatocellular(127;0.213)		387					B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	SNP	ENST00000307712.6	37	c.553C>G	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179269	0.57800	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328;ENST00000554645	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.4	5.4	0.78164	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	T	0.80854	0.4703	M	0.89030	3	0.80722	D	1	B;B;P;B	0.36789	0.123;0.371;0.57;0.425	B;B;B;B	0.40256	0.154;0.295;0.295;0.324	T	0.79650	-0.1715	10	0.20046	T	0.44	-8.9978	19.1828	0.93630	0.0:0.0:1.0:0.0	.	275;358;261;387	G3V531;F5H365;F5H6C4;Q15436	.;.;.;SC23A_HUMAN	E	185;387;261;358;275	ENSP00000444193:Q185E;ENSP00000306881:Q387E;ENSP00000437715:Q261E;ENSP00000445393:Q358E	ENSP00000306881:Q387E	Q	-	1	0	SEC23A	38606196	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.738000	0.98835	2.538000	0.85594	0.555000	0.69702	CAA		0.358	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			62	108	0	0	0	1	0	62	108				
MUC4	4585	broad.mit.edu	37	3	195505859	195505859	+	Missense_Mutation	SNP	T	T	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr3:195505859T>C	ENST00000463781.3	-	2	13051	c.12592A>G	c.(12592-12594)Act>Gct	p.T4198A	MUC4_ENST00000475231.1_Missense_Mutation_p.T4198A|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T4198A(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGAGGAAGTGTCGGTGACA	0.602																																						ENST00000463781.3																			2	Substitution - Missense(2)	p.T4198A(2)	endometrium(1)|kidney(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12592-12594)Act>Gct		mucin 4, cell surface associated							19.0	15.0	16.0					3																	195505859		689	1576	2265	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505859T>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12592A>G	3.37:g.195505859T>C	ENSP00000417498:p.Thr4198Ala					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T4198A	p.T4198A	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13051	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	961					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12592A>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	N	1.310	-0.602470	0.03744	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.35789	1.42;1.29	.	.	.	.	.	.	.	.	T	0.15739	0.0379	N	0.14661	0.345	0.18873	N	0.999989	B	0.14438	0.01	B	0.15870	0.014	T	0.21827	-1.0234	7	.	.	.	.	4.4479	0.11606	0.0:0.2715:0.0:0.7285	.	4070	E7ESK3	.	A	4198	ENSP00000417498:T4198A;ENSP00000420243:T4198A	.	T	-	1	0	MUC4	196990638	0.000000	0.05858	0.008000	0.14137	0.030000	0.12068	-0.602000	0.05680	-1.729000	0.01364	-1.976000	0.00459	ACT		0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	7	0	0	0	1	0	4	7				
SPTLC3	55304	broad.mit.edu	37	20	13055073	13055073	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr20:13055073G>A	ENST00000399002.2	+	4	809	c.535G>A	c.(535-537)Gag>Aag	p.E179K	SPTLC3_ENST00000378194.4_Missense_Mutation_p.E179K	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	179					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						CAAGTATGATGAGTCTATGAG	0.433																																						ENST00000399002.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						c.(535-537)Gag>Aag		serine palmitoyltransferase, long chain base subunit 3	Pyridoxal Phosphate(DB00114)						144.0	142.0	143.0					20																	13055073		1976	4175	6151	SO:0001583	missense	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13055073G>A	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.535G>A	20.37:g.13055073G>A	ENSP00000381968:p.Glu179Lys					SPTLC3_ENST00000378194.4_Missense_Mutation_p.E179K	p.E179K	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN			4	809	+			179					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	c.535G>A	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	G	8.599	0.886451	0.17540	.	.	ENSG00000172296	ENST00000399002;ENST00000378194;ENST00000450297	T;T;T	0.68479	-0.33;-0.33;-0.33	6.17	4.13	0.48395	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.467402	0.26007	N	0.026909	T	0.49660	0.1570	L	0.39467	1.215	0.31371	N	0.680217	B	0.13594	0.008	B	0.19666	0.026	T	0.44787	-0.9305	10	0.07482	T	0.82	-7.5077	6.5254	0.22299	0.1865:0.1502:0.6633:0.0	.	179	Q9NUV7	SPTC3_HUMAN	K	179;179;152	ENSP00000381968:E179K;ENSP00000367436:E179K;ENSP00000409125:E152K	ENSP00000367436:E179K	E	+	1	0	SPTLC3	13003073	0.346000	0.24844	0.076000	0.20297	0.007000	0.05969	1.755000	0.38379	1.621000	0.50320	0.655000	0.94253	GAG		0.433	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		10	74	0	0	0	1	0	10	74				
RTBDN	83546	broad.mit.edu	37	19	12936651	12936651	+	Missense_Mutation	SNP	A	A	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr19:12936651A>G	ENST00000458671.2	-	6	711	c.559T>C	c.(559-561)Tcc>Ccc	p.S187P	RTBDN_ENST00000393233.2_3'UTR|RTBDN_ENST00000322912.5_Missense_Mutation_p.S219P|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000592204.1_Missense_Mutation_p.S197P|RTBDN_ENST00000589272.1_3'UTR	NM_001080997.2	NP_001074466.1	Q9BSG5	RTBDN_HUMAN	retbindin	187						extracellular region (GO:0005576)				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						GGTACCGCGGAGATGGAGATG	0.692											OREG0025275	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000322912.5																			0				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						c.(655-657)Tcc>Ccc		retbindin							32.0	28.0	30.0					19																	12936651		2203	4300	6503	SO:0001583	missense	83546					extracellular region		g.chr19:12936651A>G	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.559T>C	19.37:g.12936651A>G	ENSP00000416375:p.Ser187Pro		OREG0025275	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	RTBDN_ENST00000592204.1_Missense_Mutation_p.S197P|RTBDN_ENST00000393233.2_3'UTR|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000589272.1_3'UTR|RTBDN_ENST00000458671.2_Missense_Mutation_p.S187P	p.S219P	NM_031429.2	NP_113617.1	Q9BSG5	RTBDN_HUMAN			7	972	-			187					F1T0I8|Q9BWT5	Missense_Mutation	SNP	ENST00000458671.2	37	c.655T>C	CCDS45994.1	.	.	.	.	.	.	.	.	.	.	A	14.56	2.571212	0.45798	.	.	ENSG00000132026	ENST00000322912;ENST00000458671	T;T	0.56444	0.46;0.52	4.62	-3.18	0.05186	.	0.827749	0.10180	N	0.705959	T	0.39911	0.1096	L	0.34521	1.04	0.24232	N	0.995399	B;B	0.14438	0.01;0.006	B;B	0.13407	0.009;0.004	T	0.33240	-0.9876	10	0.72032	D	0.01	-25.5209	12.0002	0.53226	0.346:0.0:0.654:0.0	.	219;187	Q9BSG5-2;Q9BSG5	.;RTBDN_HUMAN	P	219;187	ENSP00000326253:S219P;ENSP00000416375:S187P	ENSP00000326253:S219P	S	-	1	0	RTBDN	12797651	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	-0.110000	0.10824	-0.857000	0.04115	-0.326000	0.08463	TCC		0.692	RTBDN-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451513.1	NM_031429		3	35	0	0	0	1	0	3	35				
OR4A47	403253	broad.mit.edu	37	11	48510886	48510886	+	Missense_Mutation	SNP	C	C	A	rs374169955		TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr11:48510886C>A	ENST00000446524.1	+	1	618	c.542C>A	c.(541-543)cCc>cAc	p.P181H		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P181L(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GACATGTATCCCTTATTGAAA	0.443																																						ENST00000446524.1																			1	Substitution - Missense(1)	p.P181L(1)	ovary(1)	NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(541-543)cCc>cAc		olfactory receptor, family 4, subfamily A, member 47							167.0	159.0	162.0					11																	48510886		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48510886C>A	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.542C>A	11.37:g.48510886C>A	ENSP00000412752:p.Pro181His						p.P181H	NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN			1	618	+			181						Missense_Mutation	SNP	ENST00000446524.1	37	c.542C>A	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	9.595	1.127245	0.20959	.	.	ENSG00000237388	ENST00000446524	T	0.00211	8.54	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.117629	0.38778	N	0.001571	T	0.00815	0.0027	H	0.95187	3.635	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.19418	-1.0306	10	0.87932	D	0	.	10.6704	0.45755	0.1913:0.8087:0.0:0.0	.	181	Q6IF82	O4A47_HUMAN	H	181	ENSP00000412752:P181H	ENSP00000412752:P181H	P	+	2	0	OR4A47	48467462	0.001000	0.12720	0.146000	0.22360	0.047000	0.14425	1.387000	0.34430	2.218000	0.71995	0.511000	0.50034	CCC		0.443	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		12	291	1	0	1.05317e-09	1	1.17327e-09	12	291				
SHANK2	22941	broad.mit.edu	37	11	70319147	70319147	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr11:70319147C>T	ENST00000423696.2	-	16	4276	c.4240G>A	c.(4240-4242)Gat>Aat	p.D1414N	SHANK2_ENST00000409161.1_Missense_Mutation_p.D1197N|SHANK2_ENST00000449833.2_Missense_Mutation_p.D1198N|SHANK2_ENST00000338508.4_Missense_Mutation_p.D1794N			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1414	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCCAGCCAATCGGCCACATCT	0.483																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(5380-5382)Gat>Aat		SH3 and multiple ankyrin repeat domains 2							138.0	135.0	136.0					11																	70319147		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70319147C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.4240G>A	11.37:g.70319147C>T	ENSP00000394536:p.Asp1414Asn					SHANK2_ENST00000409161.1_Missense_Mutation_p.D1197N|SHANK2_ENST00000449833.2_Missense_Mutation_p.D1198N|SHANK2_ENST00000423696.2_Missense_Mutation_p.D1414N	p.D1794N			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		33	5379	-			1414					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.5380G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.421623	0.96111	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71	6.03	6.03	0.97812	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.086699	0.85682	D	0.000000	T	0.68210	0.2976	L	0.60067	1.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.77557	0.99;0.974;0.932	T	0.67647	-0.5617	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1414;1793;1198	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	N	1198;1197;1072;1794;1414;1432;1417	ENSP00000399423:D1198N;ENSP00000386491:D1197N;ENSP00000402944:D1072N;ENSP00000345193:D1794N;ENSP00000394536:D1414N;ENSP00000294018:D1417N	ENSP00000294018:D1417N	D	-	1	0	SHANK2	69996795	1.000000	0.71417	0.937000	0.37676	0.996000	0.88848	7.592000	0.82676	2.861000	0.98227	0.655000	0.94253	GAT		0.483	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		7	494	0	0	0	1	0	7	494				
ADSSL1	122622	broad.mit.edu	37	14	105208336	105208336	+	Missense_Mutation	SNP	C	C	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr14:105208336C>G	ENST00000330877.2	+	9	1030	c.945C>G	c.(943-945)atC>atG	p.I315M	ADSSL1_ENST00000332972.5_Missense_Mutation_p.I358M	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		CCGAGCAGATCAACGTGAGTC	0.687																																						ENST00000332972.5																			0				central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11						c.(1072-1074)atC>atG		adenylosuccinate synthase like 1	L-Aspartic Acid(DB00128)						114.0	93.0	100.0					14																	105208336		2203	4300	6503	SO:0001583	missense	122622				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr14:105208336C>G	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.945C>G	14.37:g.105208336C>G	ENSP00000331260:p.Ile315Met					ADSSL1_ENST00000330877.2_Missense_Mutation_p.I315M	p.I358M	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	9	1233	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	315						Missense_Mutation	SNP	ENST00000330877.2	37	c.1074C>G	CCDS9990.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421077	0.25639	.	.	ENSG00000185100	ENST00000330877;ENST00000332972	T;T	0.42900	0.96;0.96	5.13	-0.5	0.12012	.	0.118329	0.56097	D	0.000035	T	0.25865	0.0630	L	0.31578	0.945	0.80722	D	1	B;B	0.33044	0.395;0.305	B;B	0.39217	0.294;0.256	T	0.03863	-1.0997	10	0.37606	T	0.19	-23.7528	1.6382	0.02747	0.3791:0.3155:0.0993:0.2061	.	358;315	Q8N142-2;Q8N142	.;PURA1_HUMAN	M	315;358	ENSP00000331260:I315M;ENSP00000333019:I358M	ENSP00000331260:I315M	I	+	3	3	ADSSL1	104279381	0.818000	0.29161	0.818000	0.32626	0.592000	0.36648	-0.206000	0.09398	-0.004000	0.14419	-0.826000	0.03091	ATC		0.687	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1			4	131	0	0	0	1	0	4	131				
TTN	7273	broad.mit.edu	37	2	179496028	179496028	+	Splice_Site	SNP	C	C	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:179496028C>A	ENST00000591111.1	-	187	39049		c.e187-1		TTN_ENST00000342175.6_Splice_Site|TTN_ENST00000589042.1_Splice_Site|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			GGGTCTCCCTCTGCAAGTAAA	0.353																																						ENST00000589042.1																			0				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						c.e237-1		titin							35.0	32.0	33.0					2																	179496028		1805	4082	5887	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179496028C>A	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.38825-1G>T	2.37:g.179496028C>A						TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000342175.6_Splice_Site|TTN-AS1_ENST00000589907.1_RNA		NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		237	43972	-								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	Splice_Site	SNP	ENST00000591111.1	37			.	.	.	.	.	.	.	.	.	.	C	25.6	4.656739	0.88154	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179204273	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.770000	0.85390	2.882000	0.98803	0.655000	0.94253	.		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	6	38	1	0	0.00116845	1	0.00120644	6	38				
WHAMMP3	339005	broad.mit.edu	37	15	23205098	23205098	+	RNA	SNP	G	G	A	rs146035894	byFrequency	TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr15:23205098G>A	ENST00000400153.2	-	0	756					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		CTGGAAGAACGTGGTTGCCAC	0.373													a|||	60	0.0119808	0.0401	0.0043	5008	,	,		17673	0.002		0.001	False		,,,				2504	0.001					ENST00000400153.2																			0																																																			339005							g.chr15:23205098G>A	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205098G>A								NR_003521.1						0	756	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.373	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		3	24	0	0	0	1	0	3	24				
USP8	9101	broad.mit.edu	37	15	50790834	50790834	+	Missense_Mutation	SNP	C	C	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr15:50790834C>G	ENST00000396444.3	+	19	3418	c.3080C>G	c.(3079-3081)tCt>tGt	p.S1027C	RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000425032.3_Missense_Mutation_p.S921C|RP11-562A8.4_ENST00000560380.1_RNA|USP8_ENST00000307179.4_Missense_Mutation_p.S1027C|USP8_ENST00000433963.1_Missense_Mutation_p.S1027C|USP50_ENST00000530218.1_5'Flank	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	1027	USP.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TTACAGACATCTGTGGACTTC	0.353																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(3079-3081)tCt>tGt		ubiquitin specific peptidase 8							89.0	91.0	90.0					15																	50790834		2196	4294	6490	SO:0001583	missense	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50790834C>G	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.3080C>G	15.37:g.50790834C>G	ENSP00000379721:p.Ser1027Cys					USP8_ENST00000396444.3_Missense_Mutation_p.S1027C|RP11-562A8.4_ENST00000560380.1_RNA|USP8_ENST00000425032.3_Missense_Mutation_p.S921C|USP8_ENST00000307179.4_Missense_Mutation_p.S1027C	p.S1027C	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	20	3580	+			1027					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.3080C>G	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346298	0.41599	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032;ENST00000419830;ENST00000396440	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.79	4.85	0.62838	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.398278	0.30060	N	0.010505	T	0.37625	0.1010	N	0.25286	0.73	0.22888	N	0.998603	D;D	0.67145	0.99;0.996	P;P	0.62885	0.908;0.908	T	0.21177	-1.0253	10	0.39692	T	0.17	-9.4581	13.6691	0.62414	0.2811:0.7189:0.0:0.0	.	921;1027	B4DKA8;P40818	.;UBP8_HUMAN	C	1027;1027;1027;921;245;240	ENSP00000379721:S1027C;ENSP00000405537:S1027C;ENSP00000302239:S1027C;ENSP00000412682:S921C	ENSP00000302239:S1027C	S	+	2	0	USP8	48578126	0.847000	0.29606	0.997000	0.53966	0.996000	0.88848	2.072000	0.41510	1.381000	0.46364	0.591000	0.81541	TCT		0.353	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		13	152	0	0	0	1	0	13	152				
LAMC3	10319	broad.mit.edu	37	9	133957545	133957545	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr9:133957545G>T	ENST00000361069.4	+	24	4160	c.4027G>T	c.(4027-4029)Gaa>Taa	p.E1343*	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1343	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGCTGATCTGGAAGGTACGTG	0.622																																						ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(4027-4029)Gaa>Taa		laminin, gamma 3							44.0	37.0	39.0					9																	133957545		2203	4300	6503	SO:0001587	stop_gained	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133957545G>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.4027G>T	9.37:g.133957545G>T	ENSP00000354360:p.Glu1343*					LAMC3_ENST00000480883.1_Intron	p.E1343*	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	24	4160	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1343			Domain II and I.		B1APX9|B1APY0|Q59H72	Nonsense_Mutation	SNP	ENST00000361069.4	37	c.4027G>T	CCDS6938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.772401|4.772401	0.90108|0.90108	.|.	.|.	ENSG00000050555|ENSG00000050555	ENST00000361069;ENST00000355048|ENST00000355452	.|.	.|.	.|.	4.89|4.89	3.0|3.0	0.34707|0.34707	.|.	0.335443|.	0.28665|.	N|.	0.014559|.	.|T	.|0.42494	.|0.1205	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.50110	.|-0.8866	.|3	0.09338|.	T|.	0.73|.	.|.	6.8587|6.8587	0.24054|0.24054	0.0969:0.1771:0.726:0.0|0.0969:0.1771:0.726:0.0	.|.	.|.	.|.	.|.	X|C	1343;1355|52	.|.	ENSP00000347156:E1355X|.	E|W	+|+	1|3	0|0	LAMC3|LAMC3	132947366|132947366	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.769000|0.769000	0.43574|0.43574	3.622000|3.622000	0.54217|0.54217	0.562000|0.562000	0.29204|0.29204	0.585000|0.585000	0.79938|0.79938	GAA|TGG		0.622	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		6	17	1	0	8.12818e-05	1	8.63832e-05	6	17				
ACTL9	284382	broad.mit.edu	37	19	8808866	8808866	+	Missense_Mutation	SNP	C	C	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr19:8808866C>G	ENST00000324436.3	-	1	306	c.186G>C	c.(184-186)aaG>aaC	p.K62N		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	62						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CAAAACCTACCTTACAGGTGC	0.652																																						ENST00000324436.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						c.(184-186)aaG>aaC		actin-like 9							42.0	46.0	45.0					19																	8808866		2203	4300	6503	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8808866C>G		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.186G>C	19.37:g.8808866C>G	ENSP00000316674:p.Lys62Asn						p.K62N	NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN			1	306	-			62					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.186G>C	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100761	0.37048	.	.	ENSG00000181786	ENST00000324436	D	0.96587	-4.06	3.66	-0.915	0.10494	.	0.462530	0.17671	U	0.165967	D	0.97120	0.9059	M	0.92507	3.315	0.33754	D	0.621025	D	0.53462	0.96	P	0.54100	0.742	D	0.96243	0.9177	10	0.87932	D	0	.	7.0019	0.24815	0.0:0.3628:0.0:0.6372	.	62	Q8TC94	ACTL9_HUMAN	N	62	ENSP00000316674:K62N	ENSP00000316674:K62N	K	-	3	2	ACTL9	8669866	0.995000	0.38212	0.818000	0.32626	0.373000	0.29922	0.250000	0.18235	0.043000	0.15746	0.462000	0.41574	AAG		0.652	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		19	44	0	0	0	1	0	19	44				
LDB1	8861	broad.mit.edu	37	10	103871212	103871212	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr10:103871212G>A	ENST00000425280.1	-	2	449	c.107C>T	c.(106-108)aCc>aTc	p.T36I	LDB1_ENST00000490751.1_5'UTR|LDB1_ENST00000361198.5_5'UTR	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	36					anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		ATCCAGCATGGTGCCGGGATG	0.577																																						ENST00000425280.1																			0				breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21						c.(106-108)aCc>aTc		LIM domain binding 1							73.0	64.0	67.0					10																	103871212		2203	4300	6503	SO:0001583	missense	8861				histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity	g.chr10:103871212G>A	AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"""carboxy terminal LIM domain protein 2"""	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.107C>T	10.37:g.103871212G>A	ENSP00000392466:p.Thr36Ile					LDB1_ENST00000361198.5_5'UTR|LDB1_ENST00000490751.1_5'UTR	p.T36I	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)	2	449	-		Colorectal(252;0.122)	36					B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Missense_Mutation	SNP	ENST00000425280.1	37	c.107C>T	CCDS44472.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468797	0.43839	.	.	ENSG00000198728	ENST00000425280	.	.	.	5.68	4.78	0.61160	.	.	.	.	.	T	0.37999	0.1024	N	0.08118	0	0.41770	D	0.989763	B	0.06786	0.001	B	0.04013	0.001	T	0.16512	-1.0400	8	0.38643	T	0.18	-20.5885	13.7824	0.63089	0.0754:0.0:0.9246:0.0	.	36	Q86U70	LDB1_HUMAN	I	36	.	ENSP00000392466:T36I	T	-	2	0	LDB1	103861202	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.336000	0.79245	1.400000	0.46741	0.561000	0.74099	ACC		0.577	LDB1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113407		20	61	0	0	0	1	0	20	61				
SEC16B	89866	broad.mit.edu	37	1	177936837	177936837	+	Missense_Mutation	SNP	G	G	T	rs368519190		TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr1:177936837G>T	ENST00000308284.6	-	2	369	c.280C>A	c.(280-282)Cgc>Agc	p.R94S	SEC16B_ENST00000464631.2_Missense_Mutation_p.R94S|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	94	Required for endoplasmic reticulum localization.|Tyr-rich.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AACTGATTGCGATAACCACCT	0.483																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(280-282)Cgc>Agc		SEC16 homolog B (S. cerevisiae)							71.0	72.0	72.0					1																	177936837		1996	4184	6180	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177936837G>T	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.280C>A	1.37:g.177936837G>T	ENSP00000308339:p.Arg94Ser					RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.R94S|SEC16B_ENST00000464631.1_Missense_Mutation_p.R94S	p.R94S	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			2	369	-			94			Required for endoplasmic reticulum localization.|Tyr-rich.		A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.280C>A	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	G	6.888	0.533308	0.13188	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000464631	T;T	0.40476	2.63;1.03	5.59	0.352	0.16051	.	0.645724	0.15145	N	0.278022	T	0.15392	0.0371	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.24261	-1.0165	10	0.17369	T	0.5	0.0489	5.13	0.14905	0.3054:0.2566:0.438:0.0	.	94;94;94	E9PK14;B1AM08;Q96JE7	.;.;SC16B_HUMAN	S	94	ENSP00000308339:R94S;ENSP00000431727:R94S	ENSP00000308339:R94S	R	-	1	0	AL359075.1	176203460	0.716000	0.27956	0.000000	0.03702	0.006000	0.05464	0.966000	0.29331	0.038000	0.15604	-0.244000	0.11960	CGC		0.483	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		15	58	1	0	6.72482e-11	1	7.52469e-11	15	58				
SLC8A1	6546	broad.mit.edu	37	2	40655965	40655965	+	Missense_Mutation	SNP	C	C	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:40655965C>G	ENST00000403092.1	-	2	1489	c.1456G>C	c.(1456-1458)Gag>Cag	p.E486Q	SLC8A1_ENST00000332839.4_Missense_Mutation_p.E486Q|SLC8A1_ENST00000406391.2_Missense_Mutation_p.E486Q|SLC8A1_ENST00000542756.1_Missense_Mutation_p.E486Q|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E486Q|SLC8A1_ENST00000542024.1_Missense_Mutation_p.E486Q|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E486Q|SLC8A1_ENST00000406785.2_Missense_Mutation_p.E486Q|SLC8A1_ENST00000408028.2_Missense_Mutation_p.E486Q|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E486Q			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	486	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCATCCTCCTCAAAGATATCA	0.408																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(1456-1458)Gag>Cag		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						74.0	71.0	72.0					2																	40655965		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40655965C>G		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1456G>C	2.37:g.40655965C>G	ENSP00000384763:p.Glu486Gln					SLC8A1_ENST00000542756.1_Missense_Mutation_p.E486Q|SLC8A1_ENST00000542024.1_Missense_Mutation_p.E486Q|SLC8A1_ENST00000408028.2_Missense_Mutation_p.E486Q|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E486Q|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E486Q|SLC8A1_ENST00000403092.1_Missense_Mutation_p.E486Q|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E486Q|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E486Q|SLC8A1_ENST00000406391.2_Missense_Mutation_p.E486Q	p.E486Q			P32418	NAC1_HUMAN			2	1645	-			486			Calx-beta 1.		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1456G>C	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609537	0.66558	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	6.17	6.17	0.99709	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	D	0.86896	0.6043	H	0.97158	3.95	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.984;1.0;0.991;1.0	D	0.90200	0.4256	10	0.87932	D	0	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	486;486;486;486;486	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	Q	486	ENSP00000383886:E486Q;ENSP00000440727:E486Q;ENSP00000384763:E486Q;ENSP00000385678:E486Q;ENSP00000385188:E486Q;ENSP00000385535:E486Q;ENSP00000332931:E486Q;ENSP00000384908:E486Q;ENSP00000385811:E486Q;ENSP00000443515:E486Q	ENSP00000332931:E486Q	E	-	1	0	SLC8A1	40509469	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.663000	0.83820	2.941000	0.99782	0.655000	0.94253	GAG		0.408	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		18	80	0	0	0	1	0	18	80				
ZSCAN29	146050	broad.mit.edu	37	15	43656252	43656252	+	Silent	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr15:43656252G>A	ENST00000396976.2	-	4	1685	c.1551C>T	c.(1549-1551)acC>acT	p.T517T	ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	517					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CAGCCTCACTGGTCCCCTGGA	0.557																																						ENST00000396976.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24						c.(1549-1551)acC>acT		zinc finger and SCAN domain containing 29							88.0	80.0	83.0					15																	43656252		2201	4299	6500	SO:0001819	synonymous_variant	146050				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:43656252G>A	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.1551C>T	15.37:g.43656252G>A						ZSCAN29_ENST00000562072.1_Intron|ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000396972.1_Intron	p.T517T	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	4	1685	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	517					B3KVB9|Q32M75|Q32M76|Q8NA40	Silent	SNP	ENST00000396976.2	37	c.1551C>T	CCDS10095.2																																																																																				0.557	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		23	91	0	0	0	1	0	23	91				
DCLRE1A	9937	broad.mit.edu	37	10	115610123	115610123	+	Missense_Mutation	SNP	C	C	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr10:115610123C>G	ENST00000361384.2	-	2	1658	c.741G>C	c.(739-741)aaG>aaC	p.K247N	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.K247N|DCLRE1A_ENST00000476112.1_5'Flank	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	247					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GAGTAGAAATCTTTTCACTGG	0.378								Other identified genes with known or suspected DNA repair function																														ENST00000361384.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(739-741)aaG>aaC	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1A							78.0	81.0	80.0					10																	115610123		2203	4300	6503	SO:0001583	missense	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115610123C>G		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.741G>C	10.37:g.115610123C>G	ENSP00000355185:p.Lys247Asn					DCLRE1A_ENST00000369305.1_Missense_Mutation_p.K247N	p.K247N	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	2	1658	-			247					D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	c.741G>C	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401829	0.25291	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.67698	-0.28;-0.28	5.85	-0.54	0.11861	.	0.449691	0.24695	N	0.036356	T	0.56307	0.1976	M	0.75447	2.3	0.09310	N	1	B	0.18461	0.028	B	0.15052	0.012	T	0.53760	-0.8393	10	0.72032	D	0.01	-8.0083	0.8932	0.01258	0.2392:0.3201:0.1065:0.3341	.	247	Q6PJP8	DCR1A_HUMAN	N	247	ENSP00000355185:K247N;ENSP00000358311:K247N	ENSP00000355185:K247N	K	-	3	2	DCLRE1A	115600113	0.492000	0.26027	0.001000	0.08648	0.021000	0.10359	0.424000	0.21330	-0.100000	0.12241	-0.330000	0.08379	AAG		0.378	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		22	95	0	0	0	1	0	22	95				
ZBTB34	403341	broad.mit.edu	37	9	129641824	129641824	+	Missense_Mutation	SNP	C	C	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr9:129641824C>A	ENST00000373452.2	+	1	198	c.134C>A	c.(133-135)gCc>gAc	p.A45D	ZBTB34_ENST00000319119.4_Missense_Mutation_p.A49D			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	45	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CCATTCCGAGCCCACAAAGCA	0.502																																						ENST00000319119.4																			0				endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(145-147)gCc>gAc		zinc finger and BTB domain containing 34							108.0	116.0	113.0					9																	129641824		2086	4198	6284	SO:0001583	missense	403341				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129641824C>A	DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.134C>A	9.37:g.129641824C>A	ENSP00000362551:p.Ala45Asp					ZBTB34_ENST00000373452.2_Missense_Mutation_p.A45D	p.A49D	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN			2	231	+			45			BTB.		Q38IA7|Q5VYE9	Missense_Mutation	SNP	ENST00000373452.2	37	c.146C>A	CCDS48023.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780904	0.90282	.	.	ENSG00000177125	ENST00000319119;ENST00000373452	T;T	0.78126	-1.15;-1.15	5.4	5.4	0.78164	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.93575	0.7949	H	0.98901	4.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95872	0.8892	10	0.87932	D	0	.	19.5462	0.95299	0.0:1.0:0.0:0.0	.	45	Q8NCN2	ZBT34_HUMAN	D	49;45	ENSP00000317534:A49D;ENSP00000362551:A45D	ENSP00000317534:A49D	A	+	2	0	ZBTB34	128681645	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.440000	0.80464	2.685000	0.91497	0.650000	0.86243	GCC		0.502	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270		71	115	1	0	3.58576e-35	1	4.15883e-35	71	115				
SNRPA	6626	broad.mit.edu	37	19	41257370	41257370	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr19:41257370G>C	ENST00000243563.3	+	1	607	c.57G>C	c.(55-57)gaG>gaC	p.E19D	C19orf54_ENST00000339153.3_5'Flank|C19orf54_ENST00000598729.1_5'Flank|SNRPA_ENST00000599570.1_3'UTR|C19orf54_ENST00000598485.2_5'Flank|C19orf54_ENST00000470681.1_5'Flank|C19orf54_ENST00000378313.2_5'Flank	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	19	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snRNA binding (GO:0017069)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACCTCAATGAGAAGATCAAGA	0.527																																						ENST00000243563.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10						c.(55-57)gaG>gaC		small nuclear ribonucleoprotein polypeptide A							140.0	134.0	136.0					19																	41257370		2203	4300	6503	SO:0001583	missense	6626					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:41257370G>C	X06347	CCDS12565.1	19q13.1	2013-02-12				ENSG00000077312		"""RNA binding motif (RRM) containing"""	11151	protein-coding gene	gene with protein product		182285				1701111	Standard	NM_004596		Approved	U1A, U1-A, Mud1	uc002ooz.3	P09012		ENST00000243563.3:c.57G>C	19.37:g.41257370G>C	ENSP00000243563:p.Glu19Asp					SNRPA_ENST00000599570.1_3'UTR	p.E19D	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	607	+			19			RRM 1.			Missense_Mutation	SNP	ENST00000243563.3	37	c.57G>C	CCDS12565.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956883	0.53293	.	.	ENSG00000077312	ENST00000243563	T	0.18016	2.24	6.07	3.96	0.45880	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.10508	0.0257	N	0.17345	0.48	0.80722	D	1	B	0.11235	0.004	B	0.22601	0.04	T	0.12293	-1.0553	10	0.13108	T	0.6	-61.2171	11.9997	0.53224	0.1398:0.0:0.8602:0.0	.	19	P09012	SNRPA_HUMAN	D	19	ENSP00000243563:E19D	ENSP00000243563:E19D	E	+	3	2	SNRPA	45949210	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.278000	0.58946	0.904000	0.36572	0.655000	0.94253	GAG		0.527	SNRPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463118.2	NM_004596		8	196	0	0	0	1	0	8	196				
AIM1	202	broad.mit.edu	37	6	106973153	106973153	+	Missense_Mutation	SNP	A	A	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr6:106973153A>G	ENST00000369066.3	+	4	3567	c.3080A>G	c.(3079-3081)tAt>tGt	p.Y1027C		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GTAGTGATATATAGTGAACCC	0.388																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(3079-3081)tAt>tGt		absent in melanoma 1							247.0	253.0	251.0					6																	106973153		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106973153A>G	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3080A>G	6.37:g.106973153A>G	ENSP00000358062:p.Tyr1027Cys						p.Y1027C	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	4	3567	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1027			Beta/gamma crystallin 'Greek key' 1.		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.3080A>G	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.939625	0.52972	.	.	ENSG00000112297	ENST00000369066	D	0.83837	-1.77	5.67	0.0422	0.14216	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.572138	0.19424	N	0.114610	D	0.83801	0.5333	M	0.94101	3.495	0.42050	D	0.991114	B	0.29341	0.242	B	0.39935	0.314	T	0.82180	-0.0585	10	0.87932	D	0	.	12.1826	0.54220	0.3164:0.0:0.0:0.6836	.	1027	Q9Y4K1	AIM1_HUMAN	C	1027	ENSP00000358062:Y1027C	ENSP00000358062:Y1027C	Y	+	2	0	AIM1	107079846	0.259000	0.24043	0.006000	0.13384	0.247000	0.25773	0.605000	0.24179	-0.217000	0.10033	0.482000	0.46254	TAT		0.388	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			82	231	0	0	0	1	0	82	231				
PIK3R3	8503	broad.mit.edu	37	1	46512294	46512294	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr1:46512294C>T	ENST00000262741.5	-	8	1634	c.945G>A	c.(943-945)tgG>tgA	p.W315*	PIK3R3_ENST00000340332.6_Nonsense_Mutation_p.W220*|RP4-533D7.4_ENST00000450004.1_RNA|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000354242.4_Nonsense_Mutation_p.W256*|PIK3R3_ENST00000540385.1_Nonsense_Mutation_p.W361*|PIK3R3_ENST00000423209.1_Nonsense_Mutation_p.W256*|PIK3R3_ENST00000372006.1_Nonsense_Mutation_p.W315*|PIK3R3_ENST00000420542.1_Nonsense_Mutation_p.W315*	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	315					insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	TGTGATTGAGCCATCTGCCAG	0.448																																						ENST00000262741.5																			0				endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14						c.(943-945)tgG>tgA		phosphoinositide-3-kinase, regulatory subunit 3 (gamma)							151.0	141.0	145.0					1																	46512294		2203	4300	6503	SO:0001587	stop_gained	8503				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	g.chr1:46512294C>T	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.945G>A	1.37:g.46512294C>T	ENSP00000262741:p.Trp315*					PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000354242.4_Nonsense_Mutation_p.W256*|PIK3R3_ENST00000420542.1_Nonsense_Mutation_p.W315*|PIK3R3_ENST00000423209.1_Nonsense_Mutation_p.W256*|PIK3R3_ENST00000340332.6_Nonsense_Mutation_p.W220*|PIK3R3_ENST00000540385.1_Nonsense_Mutation_p.W361*|PIK3R3_ENST00000372006.1_Nonsense_Mutation_p.W315*	p.W315*	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN			8	1634	-	Acute lymphoblastic leukemia(166;0.155)		315					B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Nonsense_Mutation	SNP	ENST00000262741.5	37	c.945G>A	CCDS529.1	.	.	.	.	.	.	.	.	.	.	C	37	6.531294	0.97641	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000340332;ENST00000540385;ENST00000423209	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8675	19.0925	0.93233	0.0:1.0:0.0:0.0	.	.	.	.	X	315;315;315;256;220;361;256	.	ENSP00000262741:W315X	W	-	3	0	PIK3R3	46284881	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.651000	0.83577	2.824000	0.97209	0.655000	0.94253	TGG		0.448	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629		4	107	0	0	0	1	0	4	107				
SYNE2	23224	broad.mit.edu	37	14	64595250	64595250	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr14:64595250G>C	ENST00000344113.4	+	74	14210	c.13998G>C	c.(13996-13998)caG>caC	p.Q4666H	SYNE2_ENST00000554584.1_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.Q1300H|SYNE2_ENST00000358025.3_Missense_Mutation_p.Q4666H|SYNE2_ENST00000357395.3_Missense_Mutation_p.Q1051H|SYNE2_ENST00000394768.2_Missense_Mutation_p.Q1051H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4666					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.Q4666H(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCAGTGGGCAGAGTGTTGCTG	0.358																																						ENST00000357395.3																			1	Substitution - Missense(1)	p.Q4666H(1)	upper_aerodigestive_tract(1)	NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(3151-3153)caG>caC		spectrin repeat containing, nuclear envelope 2							94.0	92.0	93.0					14																	64595250		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64595250G>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.13998G>C	14.37:g.64595250G>C	ENSP00000341781:p.Gln4666His					ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.Q4666H|SYNE2_ENST00000555002.1_Missense_Mutation_p.Q1300H|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.Q1051H|SYNE2_ENST00000358025.3_Missense_Mutation_p.Q4666H	p.Q1051H			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	75	14297	+			4666					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.3153G>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	7.277	0.608303	0.14002	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	5.44	3.58	0.41010	.	0.118903	0.38005	N	0.001860	T	0.19525	0.0469	N	0.19112	0.55	0.80722	D	1	B;B;B	0.28082	0.02;0.093;0.2	B;B;B	0.23419	0.02;0.046;0.034	T	0.06075	-1.0847	10	0.32370	T	0.25	.	6.0912	0.19995	0.1669:0.0:0.644:0.1891	.	1051;4666;4666	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	H	4666;1051;4666;1300;1051	ENSP00000350719:Q4666H;ENSP00000349969:Q1051H;ENSP00000341781:Q4666H;ENSP00000450831:Q1300H;ENSP00000378249:Q1051H	ENSP00000341781:Q4666H	Q	+	3	2	SYNE2	63665003	1.000000	0.71417	0.929000	0.37066	0.601000	0.36947	0.547000	0.23299	1.416000	0.47057	-0.291000	0.09656	CAG		0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		33	123	0	0	0	1	0	33	123				
GTF3C1	2975	broad.mit.edu	37	16	27480820	27480820	+	Missense_Mutation	SNP	C	C	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr16:27480820C>G	ENST00000356183.4	-	32	4881	c.4866G>C	c.(4864-4866)ttG>ttC	p.L1622F	GTF3C1_ENST00000561623.1_Missense_Mutation_p.L1622F	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1622	Asp/Glu-rich (acidic).				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CACCTTCGTCCAAGTCATCCT	0.592																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(4864-4866)ttG>ttC		general transcription factor IIIC, polypeptide 1, alpha 220kDa							183.0	153.0	163.0					16																	27480820		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27480820C>G	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.4866G>C	16.37:g.27480820C>G	ENSP00000348510:p.Leu1622Phe					GTF3C1_ENST00000561623.1_Missense_Mutation_p.L1622F	p.L1622F	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			32	4881	-			1622			Asp/Glu-rich (acidic).		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.4866G>C	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205774	0.39003	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.27104	1.69	4.7	2.71	0.32032	.	0.496053	0.19946	N	0.102529	T	0.42426	0.1202	M	0.72118	2.19	0.28435	N	0.917067	D;D	0.71674	0.99;0.998	P;D	0.69142	0.854;0.962	T	0.25882	-1.0119	10	0.20046	T	0.44	-12.8173	9.4877	0.38940	0.0:0.7611:0.0:0.2389	.	1622;1622	Q12789;Q12789-3	TF3C1_HUMAN;.	F	1622;1618	ENSP00000348510:L1622F	ENSP00000348510:L1622F	L	-	3	2	GTF3C1	27388321	0.982000	0.34865	0.991000	0.47740	0.059000	0.15707	1.367000	0.34204	0.979000	0.38497	-0.339000	0.08088	TTG		0.592	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		20	55	0	0	0	1	0	20	55				
BTK	695	broad.mit.edu	37	X	100630177	100630177	+	Silent	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chrX:100630177C>T	ENST00000308731.7	-	2	259	c.96G>A	c.(94-96)ttG>ttA	p.L32L	BTK_ENST00000464567.1_5'UTR|BTK_ENST00000372880.1_Silent_p.L32L	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	32	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGTGCACGGTCAAGAGAAACA	0.433									Agammaglobulinemia, X-linked																													ENST00000308731.7																			0				breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(94-96)ttG>ttA		Bruton agammaglobulinemia tyrosine kinase							199.0	174.0	182.0					X																	100630177		2203	4300	6503	SO:0001819	synonymous_variant	695	Agammaglobulinemia, X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100630177C>T	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.96G>A	X.37:g.100630177C>T						BTK_ENST00000464567.1_5'UTR|BTK_ENST00000372880.1_Silent_p.L32L	p.L32L	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN			2	259	-			32			PH.		B2RAW1|Q32ML5	Silent	SNP	ENST00000308731.7	37	c.96G>A	CCDS14482.1																																																																																				0.433	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		13	116	0	0	0	1	0	13	116				
LIPE	3991	broad.mit.edu	37	19	42931220	42931220	+	Missense_Mutation	SNP	C	C	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr19:42931220C>G	ENST00000244289.4	-	1	358	c.82G>C	c.(82-84)Ggg>Cgg	p.G28R	LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|CTB-50E14.4_ENST00000596781.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	28					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TTTTCTGGCCCAGGCTCTAGC	0.537																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(82-84)Ggg>Cgg		lipase, hormone-sensitive							91.0	87.0	89.0					19																	42931220		2203	4300	6503	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42931220C>G	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.82G>C	19.37:g.42931220C>G	ENSP00000244289:p.Gly28Arg					LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA	p.G28R	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			1	358	-		Prostate(69;0.00682)	28					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.82G>C	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	C	7.337	0.620077	0.14193	.	.	ENSG00000079435	ENST00000244289	T	0.21191	2.02	4.62	-1.6	0.08426	.	1.035620	0.07751	N	0.948630	T	0.18509	0.0444	L	0.54323	1.7	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.39375	-0.9617	10	0.87932	D	0	2.2789	4.6444	0.12565	0.0:0.3361:0.3141:0.3498	.	28	Q05469	LIPS_HUMAN	R	28	ENSP00000244289:G28R	ENSP00000244289:G28R	G	-	1	0	LIPE	47623060	0.000000	0.05858	0.001000	0.08648	0.404000	0.30871	-0.477000	0.06583	-0.189000	0.10482	0.454000	0.30748	GGG		0.537	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		28	88	0	0	0	1	0	28	88				
LAMC3	10319	broad.mit.edu	37	9	133957544	133957544	+	Silent	SNP	G	G	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr9:133957544G>T	ENST00000361069.4	+	24	4159	c.4026G>T	c.(4024-4026)ctG>ctT	p.L1342L	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1342	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TGGCTGATCTGGAAGGTACGT	0.617																																						ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(4024-4026)ctG>ctT		laminin, gamma 3							44.0	37.0	39.0					9																	133957544		2203	4300	6503	SO:0001819	synonymous_variant	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133957544G>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.4026G>T	9.37:g.133957544G>T						LAMC3_ENST00000480883.1_Intron	p.L1342L	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	24	4159	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1342			Domain II and I.		B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	c.4026G>T	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	8.973	0.973527	0.18736	.	.	ENSG00000050555	ENST00000355452	.	.	.	4.89	0.811	0.18739	.	.	.	.	.	T	0.54287	0.1849	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42582	-0.9443	4	.	.	.	.	7.4279	0.27109	0.3854:0.0:0.6146:0.0	.	.	.	.	L	52	.	.	W	+	2	0	LAMC3	132947365	1.000000	0.71417	0.995000	0.50966	0.777000	0.43975	0.988000	0.29616	-0.044000	0.13491	-0.237000	0.12165	TGG		0.617	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		7	17	1	0	0.000157383	1	0.000165187	7	17				
PRICKLE2	166336	broad.mit.edu	37	3	64085012	64085012	+	Missense_Mutation	SNP	C	C	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr3:64085012C>G	ENST00000295902.6	-	8	2835	c.2250G>C	c.(2248-2250)agG>agC	p.R750S	PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R806S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	750					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CCGACACAGTCCTAGGGCACT	0.597																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(2248-2250)agG>agC		prickle homolog 2 (Drosophila)							49.0	53.0	52.0					3																	64085012		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085012C>G	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2250G>C	3.37:g.64085012C>G	ENSP00000295902:p.Arg750Ser					PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R806S|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA	p.R750S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2835	-		Lung NSC(201;0.136)	750					Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.2250G>C	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.436501	0.25813	.	.	ENSG00000163637	ENST00000295902	D	0.88124	-2.34	5.42	2.58	0.30949	.	0.000000	0.85682	D	0.000000	D	0.82838	0.5124	L	0.58101	1.795	0.58432	D	0.999994	B	0.27229	0.172	B	0.22386	0.039	T	0.77874	-0.2425	10	0.72032	D	0.01	-34.0396	10.0217	0.42046	0.0:0.7748:0.0:0.2252	.	750	Q7Z3G6	PRIC2_HUMAN	S	750	ENSP00000295902:R750S	ENSP00000295902:R750S	R	-	3	2	PRICKLE2	64060052	0.998000	0.40836	0.796000	0.32109	0.644000	0.38419	0.800000	0.27042	0.316000	0.23135	0.655000	0.94253	AGG		0.597	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		12	31	0	0	0	1	0	12	31				
VWF	7450	broad.mit.edu	37	12	6058331	6058331	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr12:6058331G>C	ENST00000261405.5	-	52	8546	c.8292C>G	c.(8290-8292)atC>atG	p.I2764M	ANO2_ENST00000327087.8_5'Flank|ANO2_ENST00000546188.1_5'Flank|ANO2_ENST00000356134.5_5'Flank	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2764	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCACATCGTTGATGTCAATGG	0.567																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(8290-8292)atC>atG		von Willebrand factor	Antihemophilic Factor(DB00025)						107.0	92.0	97.0					12																	6058331		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6058331G>C		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.8292C>G	12.37:g.6058331G>C	ENSP00000261405:p.Ile2764Met						p.I2764M	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			52	8546	-			2764			CTCK.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.8292C>G	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	5.225	0.227101	0.09916	.	.	ENSG00000110799	ENST00000261405	T	0.36699	1.24	4.89	-8.19	0.01049	Cystine knot, C-terminal (2);	1.346630	0.05465	N	0.552020	T	0.16896	0.0406	N	0.21142	0.635	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15122	-1.0448	10	0.36615	T	0.2	.	0.8986	0.01269	0.2971:0.3245:0.1243:0.2541	.	2764	P04275	VWF_HUMAN	M	2764	ENSP00000261405:I2764M	ENSP00000261405:I2764M	I	-	3	3	VWF	5928592	0.000000	0.05858	0.000000	0.03702	0.166000	0.22503	-2.580000	0.00907	-1.765000	0.01303	-0.266000	0.10368	ATC		0.567	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		27	47	0	0	0	1	0	27	47				
RASA3	22821	broad.mit.edu	37	13	114780794	114780794	+	Silent	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr13:114780794C>T	ENST00000334062.7	-	14	1417	c.1296G>A	c.(1294-1296)caG>caA	p.Q432Q	RASA3_ENST00000389544.4_Silent_p.Q400Q	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	432	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GGTCCACATACTGCCGTAGGT	0.667																																						ENST00000334062.7																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(1294-1296)caG>caA		RAS p21 protein activator 3							106.0	88.0	94.0					13																	114780794		2203	4300	6503	SO:0001819	synonymous_variant	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114780794C>T		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1296G>A	13.37:g.114780794C>T						RASA3_ENST00000389544.4_Silent_p.Q400Q	p.Q432Q	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		14	1417	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	432			Ras-GAP.		A6NL15|F8W6X8|Q8IUY2	Silent	SNP	ENST00000334062.7	37	c.1296G>A	CCDS32016.1																																																																																				0.667	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		12	68	0	0	0	1	0	12	68				
PPP1R3A	5506	broad.mit.edu	37	7	113518332	113518332	+	Missense_Mutation	SNP	T	T	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr7:113518332T>A	ENST00000284601.3	-	4	2883	c.2815A>T	c.(2815-2817)Act>Tct	p.T939S		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	939					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						GCCATGGTAGTAACTGCATTC	0.383																																						ENST00000284601.3																			0				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						c.(2815-2817)Act>Tct		protein phosphatase 1, regulatory subunit 3A							105.0	105.0	105.0					7																	113518332		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113518332T>A	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.2815A>T	7.37:g.113518332T>A	ENSP00000284601:p.Thr939Ser						p.T939S	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	2883	-			939					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.2815A>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	T	0.771	-0.765936	0.02974	.	.	ENSG00000154415	ENST00000284601	T	0.20200	2.09	5.71	-2.9	0.05648	.	0.756003	0.12411	N	0.471242	T	0.17619	0.0423	M	0.67953	2.075	0.09310	N	1	B	0.17852	0.024	B	0.10450	0.005	T	0.29882	-0.9997	10	0.52906	T	0.07	-0.0243	3.5737	0.07926	0.1019:0.3974:0.2085:0.2921	.	939	Q16821	PPR3A_HUMAN	S	939	ENSP00000284601:T939S	ENSP00000284601:T939S	T	-	1	0	PPP1R3A	113305568	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.603000	0.02077	-0.381000	0.07882	-0.274000	0.10170	ACT		0.383	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		12	167	0	0	0	1	0	12	167				
SLC4A5	57835	broad.mit.edu	37	2	74452001	74452001	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:74452001C>T	ENST00000377634.4	-	29	3659	c.3260G>A	c.(3259-3261)aGa>aAa	p.R1087K	SLC4A5_ENST00000358683.4_Missense_Mutation_p.R969K|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R969K|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R1087K|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_3'UTR|SLC4A5_ENST00000394019.2_Missense_Mutation_p.R1071K|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R990K|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R990K					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CCCTTTTTTTCTCTTCCTCTT	0.517																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(3211-3213)aGa>aAa		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							155.0	157.0	157.0					2																	74452001		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74452001C>T	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.3260G>A	2.37:g.74452001C>T	ENSP00000366861:p.Arg1087Lys					RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R990K|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R1087K|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R969K|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R969K|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R990K|SLC4A5_ENST00000423644.1_3'UTR|SLC4A5_ENST00000377634.4_Missense_Mutation_p.R1087K	p.R1071K	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			28	3609	-			1087						Missense_Mutation	SNP	ENST00000377634.4	37	c.3212G>A	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	C	4.271	0.049310	0.08243	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634	T;T;T;T;T;T;T	0.75821	-0.97;-0.64;-0.95;-0.95;-0.95;-0.64;-0.95	4.1	1.23	0.21249	.	0.781535	0.11779	N	0.530380	T	0.45478	0.1344	N	0.03903	-0.33	0.80722	D	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.06405	0.001;0.001;0.0;0.002	T	0.22487	-1.0215	10	0.15066	T	0.55	.	5.9581	0.19286	0.0:0.5731:0.0:0.4269	.	990;969;1087;1071	Q9BY07-4;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;S4A5_HUMAN;.	K	1071;1092;990;969;969;1087;990;1087	ENSP00000377587:R1071K;ENSP00000251768:R990K;ENSP00000352461:R969K;ENSP00000351513:R969K;ENSP00000350475:R1087K;ENSP00000366859:R990K;ENSP00000366861:R1087K	ENSP00000251768:R990K	R	-	2	0	SLC4A5	74305509	0.888000	0.30383	0.988000	0.46212	0.854000	0.48673	0.149000	0.16243	0.476000	0.27440	0.609000	0.83330	AGA		0.517	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			32	133	0	0	0	1	0	32	133				
EPG5	57724	broad.mit.edu	37	18	43514833	43514833	+	Silent	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr18:43514833C>T	ENST00000282041.5	-	11	2233	c.2199G>A	c.(2197-2199)gaG>gaA	p.E733E		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	733					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GCTGCAGGTTCTCGCTCTCCA	0.592																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(2197-2199)gaG>gaA		ectopic P-granules autophagy protein 5 homolog (C. elegans)							54.0	58.0	57.0					18																	43514833		2030	4190	6220	SO:0001819	synonymous_variant	57724				autophagy			g.chr18:43514833C>T	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.2199G>A	18.37:g.43514833C>T							p.E733E	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			11	2233	-			733					A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	37	c.2199G>A	CCDS11926.2																																																																																				0.592	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		15	36	0	0	0	1	0	15	36				
NGFR	4804	broad.mit.edu	37	17	47583779	47583779	+	Silent	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr17:47583779C>T	ENST00000172229.3	+	3	452	c.327C>T	c.(325-327)tgC>tgT	p.C109C	NGFR_ENST00000504201.1_Silent_p.C15C|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	109					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|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 axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					TGTGCCGCTGCGCCTACGGCT	0.706																																						ENST00000172229.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17						c.(325-327)tgC>tgT		nerve growth factor receptor							17.0	16.0	17.0					17																	47583779		2155	4227	6382	SO:0001819	synonymous_variant	4804				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm		g.chr17:47583779C>T	M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	7809	protein-coding gene	gene with protein product	"""low affinity nerve growth factor receptor"", ""TNFR superfamily, member 16"""	162010	"""nerve growth factor receptor (TNFR superfamily, member 16)"""			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.327C>T	17.37:g.47583779C>T						NGFR_ENST00000504201.1_Silent_p.C15C|RP5-1029K10.2_ENST00000514506.1_RNA	p.C109C	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN			3	452	+	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)		109					B2R961|B4E096	Silent	SNP	ENST00000172229.3	37	c.327C>T	CCDS11549.1																																																																																				0.706	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1			9	27	0	0	0	1	0	9	27				
THAP5	168451	broad.mit.edu	37	7	108204694	108204694	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr7:108204694C>T	ENST00000415914.3	-	3	1282	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	THAP5_ENST00000313516.5_Missense_Mutation_p.E335K|THAP5_ENST00000493722.1_5'Flank	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	377					cell cycle (GO:0007049)|negative regulation of cell cycle (GO:0045786)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protease binding (GO:0002020)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						ACGTTTTCTTCAGATAGCCAG	0.318																																						ENST00000415914.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(1129-1131)Gaa>Aaa		THAP domain containing 5							79.0	81.0	80.0					7																	108204694		2202	4299	6501	SO:0001583	missense	168451				cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding	g.chr7:108204694C>T	AL833137	CCDS34734.2, CCDS47687.1	7q22.3	2013-01-25			ENSG00000177683	ENSG00000177683		"""THAP (C2CH-type zinc finger) domain containing"""	23188	protein-coding gene	gene with protein product		612534				12575992	Standard	NM_001287598		Approved	DKFZp313O1132	uc003vfm.3	Q7Z6K1	OTTHUMG00000154951	ENST00000415914.3:c.1129G>A	7.37:g.108204694C>T	ENSP00000400500:p.Glu377Lys					THAP5_ENST00000313516.5_Missense_Mutation_p.E335K	p.E377K	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN			3	1282	-			377						Missense_Mutation	SNP	ENST00000415914.3	37	c.1129G>A	CCDS47687.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242390	0.79912	.	.	ENSG00000177683	ENST00000415914;ENST00000313516	D;D	0.97575	-4.44;-2.96	4.92	4.92	0.64577	.	0.000000	0.36066	N	0.002802	D	0.93099	0.7803	N	0.24115	0.695	0.80722	D	1	P	0.43094	0.799	B	0.37731	0.257	D	0.92672	0.6151	9	.	.	.	.	17.4545	0.87603	0.0:1.0:0.0:0.0	.	377	Q7Z6K1	THAP5_HUMAN	K	377;335	ENSP00000400500:E377K;ENSP00000322440:E335K	.	E	-	1	0	THAP5	107991930	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.580000	0.60942	2.440000	0.82611	0.650000	0.86243	GAA		0.318	THAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337777.2	NM_182529		47	132	0	0	0	1	0	47	132				
CAPZA2	830	broad.mit.edu	37	7	116550339	116550339	+	Missense_Mutation	SNP	C	C	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr7:116550339C>G	ENST00000361183.3	+	7	698	c.559C>G	c.(559-561)Caa>Gaa	p.Q187E	CAPZA2_ENST00000458284.2_Nonsense_Mutation_p.S160*|Y_RNA_ENST00000516306.1_RNA	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	187					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			TTCAACCACTCAAGTGGTTGG	0.328																																						ENST00000458284.2																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(478-480)tCa>tGa		capping protein (actin filament) muscle Z-line, alpha 2							79.0	78.0	78.0					7																	116550339		2203	4300	6503	SO:0001583	missense	830				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex	actin binding	g.chr7:116550339C>G		CCDS5768.1	7q31.2-q31.3	2008-07-18			ENSG00000198898	ENSG00000198898			1490	protein-coding gene	gene with protein product	"""F-actin capping protein alpha-2 subunit"""	601571					Standard	NM_006136		Approved	CAPZ, CAPPA2	uc003vil.3	P47755	OTTHUMG00000023185	ENST00000361183.3:c.559C>G	7.37:g.116550339C>G	ENSP00000354947:p.Gln187Glu					CAPZA2_ENST00000361183.2_Missense_Mutation_p.Q187E	p.S160*			P47755	CAZA2_HUMAN	GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)		6	532	+	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		166					B4DG50	Nonsense_Mutation	SNP	ENST00000361183.3	37	c.479C>G	CCDS5768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.270592|4.270592	0.80469|0.80469	.|.	.|.	ENSG00000198898|ENSG00000198898	ENST00000361183|ENST00000458284	.|.	.|.	.|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.110908|.	0.64402|.	D|.	0.000008|.	T|.	0.47210|.	0.1433|.	N|N	0.13272|0.13272	0.32|0.32	0.80722|0.80722	A|A	1|1	B|.	0.02656|.	0.0|.	B|.	0.08055|.	0.003|.	T|.	0.61038|.	-0.7143|.	8|.	0.05436|0.72032	T|D	0.98|0.01	-11.9738|-11.9738	14.7995|14.7995	0.69903|0.69903	0.1441:0.8559:0.0:0.0|0.1441:0.8559:0.0:0.0	.|.	187|.	P47755|.	CAZA2_HUMAN|.	E|X	187|160	.|.	ENSP00000354947:Q187E|ENSP00000393509:S160X	Q|S	+|+	1|2	0|0	CAPZA2|CAPZA2	116337575|116337575	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.979000|0.979000	0.70002|0.70002	4.797000|4.797000	0.62503|0.62503	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.328	CAPZA2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059506.4	NM_006136		3	55	0	0	0	1	0	3	55				
PBRM1	55193	broad.mit.edu	37	3	52643393	52643393	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr3:52643393G>A	ENST00000296302.7	-	16	2504	c.2503C>T	c.(2503-2505)Cgt>Tgt	p.R835C	PBRM1_ENST00000410007.1_Missense_Mutation_p.R835C|PBRM1_ENST00000356770.4_Missense_Mutation_p.R803C|PBRM1_ENST00000394830.3_Missense_Mutation_p.R835C|PBRM1_ENST00000409767.1_Missense_Mutation_p.R850C|PBRM1_ENST00000409114.3_Missense_Mutation_p.R850C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R835C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R835C			Q86U86	PB1_HUMAN	polybromo 1	835	Bromo 6. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCAAGCCGACGGTAGCGATTA	0.368			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(2407-2409)Cgt>Tgt		polybromo 1							96.0	96.0	96.0					3																	52643393		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52643393G>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2503C>T	3.37:g.52643393G>A	ENSP00000296302:p.Arg835Cys					PBRM1_ENST00000410007.1_Missense_Mutation_p.R835C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R835C|PBRM1_ENST00000409767.1_Missense_Mutation_p.R850C|PBRM1_ENST00000296302.7_Missense_Mutation_p.R835C|PBRM1_ENST00000394830.3_Missense_Mutation_p.R835C|PBRM1_ENST00000409114.3_Missense_Mutation_p.R850C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R835C	p.R803C			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	15	2409	-			835			Bromo 6.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.2407C>T		.	.	.	.	.	.	.	.	.	.	G	20.8	4.052826	0.75960	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	6.08	5.15	0.70609	Bromodomain (5);	0.099960	0.64402	D	0.000003	T	0.51753	0.1693	L	0.61218	1.895	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;1.0;0.999;1.0;1.0;1.0;0.999	D;P;P;D;P;D;P;D;D;D;P	0.70487	0.934;0.791;0.897;0.946;0.833;0.911;0.873;0.939;0.969;0.911;0.88	T	0.50800	-0.8785	10	0.87932	D	0	.	14.6686	0.68926	0.0:0.0:0.7884:0.2116	.	835;210;835;835;835;835;850;850;835;803;835	Q86U86-9;Q6IRX1;Q86U86-6;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;.;.;PB1_HUMAN;.;.	C	803;835;835;835;835;835;850;850;835;794	ENSP00000349213:R803C;ENSP00000378307:R835C;ENSP00000296302:R835C;ENSP00000338302:R835C;ENSP00000386593:R835C;ENSP00000386529:R835C;ENSP00000386643:R850C;ENSP00000386601:R850C;ENSP00000387775:R835C;ENSP00000397662:R794C	ENSP00000296302:R835C	R	-	1	0	PBRM1	52618433	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.736000	0.55052	2.894000	0.99253	0.655000	0.94253	CGT		0.368	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		4	84	0	0	0	1	0	4	84				
PEX5L	51555	broad.mit.edu	37	3	179592147	179592147	+	Missense_Mutation	SNP	C	C	A	rs142589999	byFrequency	TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr3:179592147C>A	ENST00000467460.1	-	7	1024	c.694G>T	c.(694-696)Gct>Tct	p.A232S	PEX5L_ENST00000465751.1_Missense_Mutation_p.A208S|PEX5L_ENST00000472994.1_Missense_Mutation_p.A173S|PEX5L_ENST00000464614.1_Missense_Mutation_p.A124S|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000392649.3_Missense_Mutation_p.A124S|PEX5L_ENST00000476138.1_Missense_Mutation_p.A189S|PEX5L_ENST00000485199.1_Missense_Mutation_p.A197S|PEX5L_ENST00000263962.8_Missense_Mutation_p.A230S|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.A40S	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	232					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			AATTCTGAAGCCGACTCAGAG	0.393																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(694-696)Gct>Tct		peroxisomal biogenesis factor 5-like							103.0	101.0	102.0					3																	179592147		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179592147C>A	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.694G>T	3.37:g.179592147C>A	ENSP00000419975:p.Ala232Ser					PEX5L_ENST00000472994.1_Missense_Mutation_p.A173S|PEX5L_ENST00000468741.1_Missense_Mutation_p.A40S|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.A208S|PEX5L_ENST00000464614.1_Missense_Mutation_p.A124S|PEX5L_ENST00000392649.3_Missense_Mutation_p.A124S|PEX5L_ENST00000263962.8_Missense_Mutation_p.A230S|PEX5L_ENST00000485199.1_Missense_Mutation_p.A197S|PEX5L_ENST00000476138.1_Missense_Mutation_p.A189S	p.A232S	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		7	1024	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		232					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.694G>T	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	5.274	0.235956	0.10023	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000496721	D;D;D;D;D;D;D;D;D	0.87491	-2.26;-2.26;-2.24;-2.23;-2.24;-2.24;-2.24;-2.23;-2.25	5.55	1.78	0.24846	.	0.448650	0.24942	N	0.034377	T	0.67767	0.2928	N	0.03608	-0.345	0.18873	N	0.999987	B;B;B;B;B;B	0.11235	0.001;0.001;0.002;0.002;0.004;0.001	B;B;B;B;B;B	0.09377	0.002;0.001;0.001;0.004;0.004;0.001	T	0.54316	-0.8312	10	0.19147	T	0.46	-2.5038	9.1522	0.36971	0.0:0.6396:0.0:0.3604	.	173;208;124;230;197;232	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	S	232;230;197;230;124;40;189;120;173;124;208;40	ENSP00000419975:A232S;ENSP00000263962:A230S;ENSP00000418440:A197S;ENSP00000376420:A124S;ENSP00000418665:A40S;ENSP00000420555:A189S;ENSP00000418054:A173S;ENSP00000417270:A124S;ENSP00000419348:A208S	ENSP00000263962:A230S	A	-	1	0	PEX5L	181074841	0.007000	0.16637	0.073000	0.20177	0.608000	0.37181	-0.281000	0.08456	0.406000	0.25560	-0.143000	0.13931	GCT		0.393	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		33	115	1	0	4.34311e-12	1	4.88119e-12	33	115				
CNTRL	11064	broad.mit.edu	37	9	123917162	123917162	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr9:123917162G>A	ENST00000373855.1	+	27	4596	c.4336G>A	c.(4336-4338)Gag>Aag	p.E1446K	CNTRL_ENST00000373847.1_Missense_Mutation_p.E894K|CNTRL_ENST00000238341.5_Missense_Mutation_p.E1446K|CNTRL_ENST00000373850.1_Missense_Mutation_p.E894K|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373844.1_5'Flank			Q7Z7A1	CNTRL_HUMAN	centriolin	1446					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)		p.E1446K(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GGCAGAGGCTGAGAGTGAACT	0.463																																						ENST00000373855.1																			1	Substitution - Missense(1)	p.E1446K(1)	lung(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(4336-4338)Gag>Aag		centriolin							205.0	185.0	192.0					9																	123917162		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123917162G>A	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.4336G>A	9.37:g.123917162G>A	ENSP00000362962:p.Glu1446Lys					CNTRL_ENST00000373847.1_Missense_Mutation_p.E894K|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Missense_Mutation_p.E894K|CNTRL_ENST00000238341.5_Missense_Mutation_p.E1446K	p.E1446K			Q7Z7A1	CNTRL_HUMAN			27	4596	+			1446					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.4336G>A	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002170	0.93227	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373850;ENST00000373847;ENST00000431571;ENST00000373845	T;T;T;T;D	0.82167	0.8;0.8;0.8;0.8;-1.58	5.58	5.58	0.84498	.	.	.	.	.	D	0.85155	0.5632	M	0.61703	1.905	0.48830	D	0.999711	D	0.58620	0.983	P	0.51016	0.656	T	0.82843	-0.0257	9	0.27785	T	0.31	.	16.0216	0.80499	0.0:0.1342:0.8658:0.0	.	1446	Q7Z7A1	CNTRL_HUMAN	K	1446;1446;1446;202;894;894;115;115	ENSP00000362962:E1446K;ENSP00000238341:E1446K;ENSP00000362956:E894K;ENSP00000362953:E894K;ENSP00000413014:E115K	ENSP00000238341:E1446K	E	+	1	0	CNTRL	122956983	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.978000	0.70501	2.769000	0.95229	0.655000	0.94253	GAG		0.463	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		7	133	0	0	0	1	0	7	133				
C9orf171	389799	broad.mit.edu	37	9	135374895	135374895	+	Silent	SNP	C	C	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr9:135374895C>G	ENST00000343036.2	+	4	588	c.540C>G	c.(538-540)ctC>ctG	p.L180L	C9orf171_ENST00000393216.2_Silent_p.L144L|C9orf171_ENST00000393215.3_Silent_p.L144L	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	180										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						ACCGTCAGCTCAATGACATCC	0.602																																						ENST00000343036.2																			0				large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						c.(538-540)ctC>ctG		chromosome 9 open reading frame 171							86.0	87.0	86.0					9																	135374895		2203	4300	6503	SO:0001819	synonymous_variant	389799							g.chr9:135374895C>G	AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.540C>G	9.37:g.135374895C>G						C9orf171_ENST00000393215.3_Silent_p.L144L|C9orf171_ENST00000393216.2_Silent_p.L144L	p.L180L	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN			4	588	+			180					Q147X1	Silent	SNP	ENST00000343036.2	37	c.540C>G	CCDS6949.1																																																																																				0.602	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417		35	131	0	0	0	1	0	35	131				
PPIL4	85313	broad.mit.edu	37	6	149838518	149838518	+	Missense_Mutation	SNP	G	G	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr6:149838518G>T	ENST00000253329.2	-	11	1083	c.1051C>A	c.(1051-1053)Ctg>Atg	p.L351M	RNU7-3P_ENST00000516435.1_RNA|PPIL4_ENST00000340881.2_De_novo_Start_OutOfFrame	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	351	Lys-rich.				protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TTATCTTTCAGAACCAAATTA	0.343																																						ENST00000340881.2																			0				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13								peptidylprolyl isomerase (cyclophilin)-like 4							165.0	141.0	149.0					6																	149838518		2203	4297	6500	SO:0001583	missense	85313				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding	g.chr6:149838518G>T		CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"""RNA binding motif (RRM) containing"""	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.1051C>A	6.37:g.149838518G>T	ENSP00000253329:p.Leu351Met					PPIL4_ENST00000253329.2_Missense_Mutation_p.L351M				Q8WUA2	PPIL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)	0	482	-		Ovarian(120;0.0164)						B2RD34|Q7Z3Q5	Translation_Start_Site	SNP	ENST00000253329.2	37		CCDS34550.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003917	0.54254	.	.	ENSG00000131013	ENST00000253329	T	0.14640	2.49	5.83	3.13	0.36017	.	0.062767	0.64402	D	0.000006	T	0.09113	0.0225	L	0.29908	0.895	0.80722	D	1	P;D	0.58620	0.917;0.983	P;P	0.56474	0.603;0.799	T	0.10405	-1.0631	10	0.33940	T	0.23	.	11.1923	0.48691	0.1985:0.0:0.8015:0.0	.	351;351	B3KRR4;Q8WUA2	.;PPIL4_HUMAN	M	351	ENSP00000253329:L351M	ENSP00000253329:L351M	L	-	1	2	PPIL4	149880211	1.000000	0.71417	0.996000	0.52242	0.939000	0.58152	1.099000	0.31013	0.400000	0.25396	-0.339000	0.08088	CTG		0.343	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1			4	100	1	0	0.217242	1	0.217242	4	100				
ZNF208	7757	broad.mit.edu	37	19	22154848	22154848	+	Silent	SNP	A	A	T	rs368733092		TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr19:22154848A>T	ENST00000397126.4	-	4	3136	c.2988T>A	c.(2986-2988)acT>acA	p.T996T	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	996					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTTTCTCTCCAGTATGAATTA	0.353																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2986-2988)acT>acA		zinc finger protein 208							58.0	63.0	61.0					19																	22154848		2085	4232	6317	SO:0001819	synonymous_variant	7757							g.chr19:22154848A>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2988T>A	19.37:g.22154848A>T						ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.T996T	NM_007153.3	NP_009084.2					4	3136	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.2988T>A	CCDS54240.1																																																																																				0.353	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		5	68	0	0	0	1	0	5	68				
DNAH6	1768	broad.mit.edu	37	2	84806759	84806759	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:84806759G>A	ENST00000237449.6	+	13	2193	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K	DNAH6_ENST00000398278.2_Missense_Mutation_p.E729K|DNAH6_ENST00000389394.3_Missense_Mutation_p.E729K			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	729	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TACTACCACAGAATATGTTCA	0.348																																						ENST00000389394.3																			0				NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						c.(2185-2187)Gaa>Aaa		dynein, axonemal, heavy chain 6							108.0	103.0	105.0					2																	84806759		2203	4300	6503	SO:0001583	missense	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84806759G>A	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.2185G>A	2.37:g.84806759G>A	ENSP00000237449:p.Glu729Lys					DNAH6_ENST00000398278.2_Missense_Mutation_p.E729K|DNAH6_ENST00000237449.6_Missense_Mutation_p.E729K	p.E729K	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN			14	2322	+			729			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	c.2185G>A	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340215	0.81911	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.26660	1.72;1.82;1.72	5.6	4.72	0.59763	.	0.000000	0.42053	D	0.000765	T	0.45074	0.1324	L	0.49350	1.555	0.41166	D	0.986133	P;D	0.89917	0.82;1.0	B;D	0.74674	0.389;0.984	T	0.44298	-0.9337	10	0.66056	D	0.02	.	14.9237	0.70859	0.0:0.0:0.8557:0.1443	.	729;308	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	K	729	ENSP00000374045:E729K;ENSP00000381326:E729K;ENSP00000237449:E729K	ENSP00000237449:E729K	E	+	1	0	DNAH6	84660270	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.145000	0.77365	1.374000	0.46228	0.655000	0.94253	GAA		0.348	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		7	137	0	0	0	1	0	7	137				
ALS2CR11	151254	broad.mit.edu	37	2	202469364	202469364	+	Silent	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:202469364C>T	ENST00000286195.3	-	2	332	c.288G>A	c.(286-288)gaG>gaA	p.E96E	ALS2CR11_ENST00000450242.1_Silent_p.E96E|ALS2CR11_ENST00000439802.1_Silent_p.E96E|ALS2CR11_ENST00000439140.1_Silent_p.E96E	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	96										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						AATTTGGCGTCTCCTGTGTTA	0.333																																						ENST00000439140.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.(286-288)gaG>gaA		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11							153.0	148.0	150.0					2																	202469364		2203	4299	6502	SO:0001819	synonymous_variant	151254							g.chr2:202469364C>T	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.288G>A	2.37:g.202469364C>T						ALS2CR11_ENST00000450242.1_Silent_p.E96E|ALS2CR11_ENST00000286195.3_Silent_p.E96E|ALS2CR11_ENST00000439802.1_Silent_p.E96E	p.E96E	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN			2	332	-			96					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Silent	SNP	ENST00000286195.3	37	c.288G>A	CCDS2349.1																																																																																				0.333	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		11	160	0	0	0	1	0	11	160				
PRSS36	146547	broad.mit.edu	37	16	31155036	31155036	+	Silent	SNP	G	G	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr16:31155036G>C	ENST00000268281.4	-	7	901	c.843C>G	c.(841-843)acC>acG	p.T281T	PRSS36_ENST00000418068.2_Silent_p.T281T|PRSS36_ENST00000569305.1_Silent_p.T281T	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	281	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						ATGCCTCATAGGTAGCCACAG	0.612																																						ENST00000268281.4																			0				kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						c.(841-843)acC>acG		protease, serine, 36							55.0	59.0	58.0					16																	31155036		2197	4300	6497	SO:0001819	synonymous_variant	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31155036G>C	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.843C>G	16.37:g.31155036G>C						PRSS36_ENST00000418068.2_Silent_p.T281T|PRSS36_ENST00000569305.1_Silent_p.T281T	p.T281T	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN			7	901	-			281			Peptidase S1 1.		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Silent	SNP	ENST00000268281.4	37	c.843C>G	CCDS32436.1																																																																																				0.612	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		19	51	0	0	0	1	0	19	51				
GMIP	51291	broad.mit.edu	37	19	19749029	19749029	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr19:19749029G>A	ENST00000203556.4	-	9	865	c.728C>T	c.(727-729)tCg>tTg	p.S243L	GMIP_ENST00000586269.1_5'Flank|GMIP_ENST00000445806.2_Missense_Mutation_p.S243L|GMIP_ENST00000587238.1_Missense_Mutation_p.S243L	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	243					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						AGGTCCCGGCGAGGCCTGGGG	0.751																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(727-729)tCg>tTg		GEM interacting protein							9.0	10.0	10.0					19																	19749029		2169	4245	6414	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19749029G>A	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.728C>T	19.37:g.19749029G>A	ENSP00000203556:p.Ser243Leu					GMIP_ENST00000445806.2_Missense_Mutation_p.S243L|GMIP_ENST00000587238.1_Missense_Mutation_p.S243L	p.S243L	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			9	865	-			243					A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.728C>T	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972114	0.53614	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.46819	0.86;0.86	2.89	2.89	0.33648	.	0.000000	0.32703	N	0.005751	T	0.45256	0.1333	M	0.73962	2.25	0.35931	D	0.832494	B;B;B	0.28258	0.205;0.103;0.103	B;B;B	0.19666	0.026;0.026;0.026	T	0.59648	-0.7415	10	0.45353	T	0.12	-13.0305	11.9779	0.53103	0.0:0.0:1.0:0.0	.	243;243;243	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	L	243	ENSP00000203556:S243L;ENSP00000397075:S243L	ENSP00000203556:S243L	S	-	2	0	GMIP	19610029	0.002000	0.14202	0.593000	0.28771	0.874000	0.50279	1.057000	0.30492	1.918000	0.55548	0.313000	0.20887	TCG		0.751	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		3	16	0	0	0	1	0	3	16				
HSPH1	10808	broad.mit.edu	37	13	31722148	31722148	+	Silent	SNP	T	T	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr13:31722148T>C	ENST00000320027.5	-	10	1670	c.1326A>G	c.(1324-1326)ctA>ctG	p.L442L	HSPH1_ENST00000445273.2_Silent_p.L444L|HSPH1_ENST00000429785.2_Silent_p.L261L|HSPH1_ENST00000380405.4_Silent_p.L442L|HSPH1_ENST00000380406.5_Silent_p.L401L	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	442					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		AGAAAGCTTCTAGCTCAAAAG	0.388																																						ENST00000320027.5																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(1324-1326)ctA>ctG		heat shock 105kDa/110kDa protein 1							141.0	161.0	154.0					13																	31722148		2203	4300	6503	SO:0001819	synonymous_variant	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31722148T>C	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.1326A>G	13.37:g.31722148T>C						HSPH1_ENST00000429785.2_Silent_p.L261L|HSPH1_ENST00000445273.2_Silent_p.L444L|HSPH1_ENST00000380405.4_Silent_p.L442L|HSPH1_ENST00000380406.5_Silent_p.L401L	p.L442L	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	10	1670	-		Lung SC(185;0.0257)	442					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Silent	SNP	ENST00000320027.5	37	c.1326A>G	CCDS9340.1																																																																																				0.388	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			63	207	0	0	0	1	0	63	207				
DHX15	1665	broad.mit.edu	37	4	24557974	24557974	+	Missense_Mutation	SNP	T	T	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr4:24557974T>C	ENST00000336812.4	-	4	917	c.761A>G	c.(760-762)tAt>tGt	p.Y254C		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	254	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				TATTACACCATAACGCTCCAG	0.403																																						ENST00000336812.4																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(760-762)tAt>tGt		DEAH (Asp-Glu-Ala-His) box helicase 15							148.0	138.0	141.0					4																	24557974		2203	4300	6503	SO:0001583	missense	1665				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr4:24557974T>C	AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.761A>G	4.37:g.24557974T>C	ENSP00000336741:p.Tyr254Cys						p.Y254C	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN			4	917	-		Breast(46;0.0503)	254			Helicase ATP-binding.		Q9NQT7	Missense_Mutation	SNP	ENST00000336812.4	37	c.761A>G	CCDS33966.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.621064	0.87460	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	T	0.27557	1.66	6.16	6.16	0.99307	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72890	0.3517	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84226	0.0464	10	0.87932	D	0	-28.2283	16.8061	0.85666	0.0:0.0:0.0:1.0	.	254	O43143	DHX15_HUMAN	C	254;243	ENSP00000336741:Y254C	ENSP00000336741:Y254C	Y	-	2	0	DHX15	24167072	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.367000	0.80283	0.528000	0.53228	TAT		0.403	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358		24	61	0	0	0	1	0	24	61				
KCTD8	386617	broad.mit.edu	37	4	44449605	44449605	+	Missense_Mutation	SNP	G	G	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr4:44449605G>T	ENST00000360029.3	-	1	1219	c.936C>A	c.(934-936)agC>agA	p.S312R	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	312					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CGGTGTAGCTGCTCCAGATCT	0.637										HNSCC(17;0.042)																												ENST00000360029.3																			0				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						c.(934-936)agC>agA		potassium channel tetramerization domain containing 8							25.0	23.0	24.0					4																	44449605		2203	4299	6502	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44449605G>T	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.936C>A	4.37:g.44449605G>T	ENSP00000353129:p.Ser312Arg	HNSCC(17;0.042)					p.S312R	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN			1	1219	-			312					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.936C>A	CCDS3467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.071026|4.071026	0.76301|0.76301	.|.	.|.	ENSG00000183783|ENSG00000183783	ENST00000515268|ENST00000360029	.|T	.|0.39229	.|1.09	4.27|4.27	4.27|4.27	0.50696|0.50696	.|.	.|0.055515	.|0.64402	.|D	.|0.000001	T|T	0.56645|0.56645	0.1999|0.1999	L|L	0.54323|0.54323	1.7|1.7	0.46874|0.46874	D|D	0.999232|0.999232	.|D	.|0.69078	.|0.997	.|P	.|0.61477	.|0.889	T|T	0.62220|0.62220	-0.6900|-0.6900	5|10	.|0.87932	.|D	.|0	.|.	15.8688|15.8688	0.79091|0.79091	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|312	.|Q6ZWB6	.|KCTD8_HUMAN	E|R	9|312	.|ENSP00000353129:S312R	.|ENSP00000353129:S312R	A|S	-|-	2|3	0|2	KCTD8|KCTD8	44144362|44144362	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	6.488000|6.488000	0.73637|0.73637	2.214000|2.214000	0.71695|0.71695	0.591000|0.591000	0.81541|0.81541	GCA|AGC		0.637	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			8	26	1	0	0.000157383	1	0.000165187	8	26				
NIPBL	25836	broad.mit.edu	37	5	37052593	37052593	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr5:37052593C>G	ENST00000282516.8	+	42	7687	c.7188C>G	c.(7186-7188)taC>taG	p.Y2396*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.Y2396*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2396					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CACACCTTTACTCCATGATCC	0.423																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(7186-7188)taC>taG		Nipped-B homolog (Drosophila)							106.0	105.0	105.0					5																	37052593		2203	4300	6503	SO:0001587	stop_gained	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37052593C>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7188C>G	5.37:g.37052593C>G	ENSP00000282516:p.Tyr2396*					NIPBL_ENST00000448238.2_Nonsense_Mutation_p.Y2396*	p.Y2396*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		42	7687	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2396					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Nonsense_Mutation	SNP	ENST00000282516.8	37	c.7188C>G	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	51	18.074889	0.99898	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	6.02	6.02	0.97574	.	0.122142	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.197	15.6449	0.77039	0.0:0.933:0.0:0.067	.	.	.	.	X	2396	.	ENSP00000282516:Y2396X	Y	+	3	2	NIPBL	37088350	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.600000	0.61083	2.857000	0.98124	0.650000	0.86243	TAC		0.423	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		45	220	0	0	0	1	0	45	220				
LMTK2	22853	broad.mit.edu	37	7	97821553	97821553	+	Silent	SNP	C	C	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr7:97821553C>G	ENST00000297293.5	+	11	2069	c.1776C>G	c.(1774-1776)ctC>ctG	p.L592L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	592					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TCACGGCGCTCAGGAGCGTTG	0.527																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(1774-1776)ctC>ctG		lemur tyrosine kinase 2							52.0	50.0	51.0					7																	97821553		2203	4300	6503	SO:0001819	synonymous_variant	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97821553C>G	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1776C>G	7.37:g.97821553C>G							p.L592L	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	2069	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		592					A4D272|Q75MG7|Q9UPS3	Silent	SNP	ENST00000297293.5	37	c.1776C>G	CCDS5654.1																																																																																				0.527	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		11	82	0	0	0	1	0	11	82				
DPPA4	55211	broad.mit.edu	37	3	109049641	109049641	+	Missense_Mutation	SNP	T	T	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr3:109049641T>G	ENST00000335658.6	-	5	463	c.409A>C	c.(409-411)Aaa>Caa	p.K137Q	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	137					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TTGGCCTCTTTTGCTGTGCTA	0.363																																						ENST00000335658.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(409-411)Aaa>Caa		developmental pluripotency associated 4							58.0	60.0	59.0					3																	109049641		2203	4300	6503	SO:0001583	missense	55211					nucleus	protein binding	g.chr3:109049641T>G	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.409A>C	3.37:g.109049641T>G	ENSP00000335306:p.Lys137Gln					DPPA4_ENST00000478791.1_5'UTR	p.K137Q	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN			5	463	-			137					A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP	ENST00000335658.6	37	c.409A>C	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	T	7.467	0.645855	0.14451	.	.	ENSG00000121570	ENST00000335658	T	0.25414	1.8	3.96	-1.3	0.09259	.	0.504044	0.18149	N	0.150145	T	0.09949	0.0244	N	0.17594	0.5	0.09310	N	0.999997	P;P	0.40660	0.726;0.506	B;B	0.34873	0.191;0.051	T	0.23868	-1.0176	9	.	.	.	-18.7569	4.0077	0.09608	0.0:0.3014:0.1824:0.5162	.	127;137	B7Z5Q7;Q7L190	.;DPPA4_HUMAN	Q	137	ENSP00000335306:K137Q	.	K	-	1	0	DPPA4	110532331	0.775000	0.28604	0.047000	0.18901	0.103000	0.19146	-0.022000	0.12480	-0.209000	0.10156	0.460000	0.39030	AAA		0.363	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		71	82	0	0	0	1	0	71	82				
SEC14L3	266629	broad.mit.edu	37	22	30857319	30857319	+	Silent	SNP	G	G	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr22:30857319G>C	ENST00000215812.4	-	11	1149	c.1059C>G	c.(1057-1059)ctC>ctG	p.L353L	SEC14L3_ENST00000401751.1_Silent_p.L294L|SEC14L3_ENST00000540910.1_Silent_p.L276L|SEC14L3_ENST00000402286.1_Silent_p.L276L|SEC14L3_ENST00000403066.1_Silent_p.L294L|SEC14L3_ENST00000415957.2_Silent_p.L294L|SEC14L3_ENST00000539629.1_Silent_p.L294L	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	353	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CTGAGCAGGTGAGGTTCCCAT	0.597																																					Esophageal Squamous(108;290 1516 3584 23771 37333)	ENST00000403066.1																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19						c.(880-882)ctC>ctG		SEC14-like 3 (S. cerevisiae)	Vitamin E(DB00163)						87.0	84.0	85.0					22																	30857319		2203	4300	6503	SO:0001819	synonymous_variant	266629					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30857319G>C	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.1059C>G	22.37:g.30857319G>C						SEC14L3_ENST00000415957.2_Silent_p.L294L|SEC14L3_ENST00000540910.1_Silent_p.L276L|SEC14L3_ENST00000402286.1_Silent_p.L276L|SEC14L3_ENST00000401751.1_Silent_p.L294L|SEC14L3_ENST00000539629.1_Silent_p.L294L|SEC14L3_ENST00000215812.4_Silent_p.L353L	p.L294L			Q9UDX4	S14L3_HUMAN			12	1165	-			353			GOLD.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Silent	SNP	ENST00000215812.4	37	c.882C>G	CCDS13877.1																																																																																				0.597	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		12	117	0	0	0	1	0	12	117				
OR4D6	219983	broad.mit.edu	37	11	59224503	59224503	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr11:59224503G>C	ENST00000300127.2	+	1	93	c.70G>C	c.(70-72)Gag>Cag	p.E24Q		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	24						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(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CCGAGAGCTGGAGTTTTTCTT	0.473																																						ENST00000300127.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						c.(70-72)Gag>Cag		olfactory receptor, family 4, subfamily D, member 6							255.0	234.0	241.0					11																	59224503		2201	4295	6496	SO:0001583	missense	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59224503G>C	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.70G>C	11.37:g.59224503G>C	ENSP00000300127:p.Glu24Gln						p.E24Q	NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN			1	93	+			24					B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	c.70G>C	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.732179	0.00687	.	.	ENSG00000166884	ENST00000300127	T	0.00216	8.53	5.9	2.91	0.33838	.	0.000000	0.53938	D	0.000051	T	0.00039	0.0001	N	0.00666	-1.275	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.29088	-1.0023	10	0.02654	T	1	-16.4646	7.0237	0.24928	0.1499:0.2486:0.6014:0.0	.	24	Q8NGJ1	OR4D6_HUMAN	Q	24	ENSP00000300127:E24Q	ENSP00000300127:E24Q	E	+	1	0	OR4D6	58981079	0.004000	0.15560	0.003000	0.11579	0.456000	0.32438	0.442000	0.21628	0.848000	0.35191	0.655000	0.94253	GAG		0.473	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		5	186	0	0	0	1	0	5	186				
RFX4	5992	broad.mit.edu	37	12	107113760	107113760	+	Silent	SNP	C	C	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr12:107113760C>G	ENST00000392842.1	+	12	1575	c.1161C>G	c.(1159-1161)ctC>ctG	p.L387L	RFX4_ENST00000357881.4_Silent_p.L396L|RFX4_ENST00000229387.5_Silent_p.L293L|RP11-482D24.3_ENST00000552415.1_RNA|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	387	Necessary for dimerization.				cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TTGACCATCTCTTGGAGGAGC	0.488																																						ENST00000392842.1																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(1159-1161)ctC>ctG		regulatory factor X, 4 (influences HLA class II expression)							210.0	186.0	194.0					12																	107113760		2203	4300	6503	SO:0001819	synonymous_variant	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107113760C>G	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.1161C>G	12.37:g.107113760C>G						RP11-482D24.3_ENST00000552415.1_RNA|RFX4_ENST00000357881.4_Silent_p.L396L|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Silent_p.L293L	p.L387L	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN			12	1575	+			387			Necessary for dimerization.		A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Silent	SNP	ENST00000392842.1	37	c.1161C>G	CCDS9106.1																																																																																				0.488	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		5	89	0	0	0	1	0	5	89				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																729171							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			5	98	0	0	0	1	0	5	98				
ZNF257	113835	broad.mit.edu	37	19	22255710	22255710	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr19:22255710G>C	ENST00000594947.1	+	2	247	c.103G>C	c.(103-105)Gag>Cag	p.E35Q	ZNF257_ENST00000600162.1_Missense_Mutation_p.E35Q	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTGATGTTAGAGAACTACAG	0.388																																						ENST00000594947.1																			0				haematopoietic_and_lymphoid_tissue(2)|lung(4)	6						c.(103-105)Gag>Cag		zinc finger protein 257							130.0	134.0	133.0					19																	22255710		2203	4298	6501	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22255710G>C	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.103G>C	19.37:g.22255710G>C	ENSP00000470209:p.Glu35Gln					ZNF257_ENST00000600162.1_Missense_Mutation_p.E35Q	p.E35Q	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN			2	247	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	35			KRAB.		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.103G>C	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908502	0.33721	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	0.9	0.9	0.19278	Krueppel-associated box (4);	.	.	.	.	T	0.73055	0.3538	H	0.96111	3.77	0.21527	N	0.999656	D	0.89917	1.0	D	0.85130	0.997	T	0.59101	-0.7517	8	0.72032	D	0.01	.	4.9573	0.14048	0.0:0.0:1.0:0.0	.	35	Q9Y2Q1	ZN257_HUMAN	Q	35	.	ENSP00000380312:E35Q	E	+	1	0	ZNF257	22047550	0.945000	0.32115	0.829000	0.32907	0.829000	0.46940	1.751000	0.38339	0.308000	0.22923	0.313000	0.20887	GAG		0.388	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			14	221	0	0	0	1	0	14	221				
ABCA2	20	broad.mit.edu	37	9	139902402	139902402	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr9:139902402G>C	ENST00000371605.3	-	48	7434	c.7287C>G	c.(7285-7287)ttC>ttG	p.F2429L	ABCA2_ENST00000341511.6_Missense_Mutation_p.F2430L|ABCA2_ENST00000265662.5_Missense_Mutation_p.F2430L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2429					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGTCCGTGTTGAAGGACAGCT	0.662																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(7288-7290)ttC>ttG		ATP-binding cassette, sub-family A (ABC1), member 2							55.0	61.0	59.0					9																	139902402		2017	4178	6195	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139902402G>C	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.7287C>G	9.37:g.139902402G>C	ENSP00000360666:p.Phe2429Leu					ABCA2_ENST00000371605.3_Missense_Mutation_p.F2429L|ABCA2_ENST00000341511.6_Missense_Mutation_p.F2430L	p.F2430L			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	49	7437	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	2429					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.7290C>G		.	.	.	.	.	.	.	.	.	.	G	20.5	3.999297	0.74818	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511;ENST00000490486;ENST00000448336	D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-1.99;-1.96	3.64	3.64	0.41730	.	2.324380	0.02787	N	0.121659	D	0.89808	0.6822	N	0.19112	0.55	0.48762	D	0.999709	P;P	0.52842	0.956;0.956	D;D	0.65010	0.931;0.931	T	0.82663	-0.0346	10	0.87932	D	0	.	6.8877	0.24212	0.2222:0.0:0.7778:0.0	.	2429;2460	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	L	2430;2429;2460;2430;189;179	ENSP00000265662:F2430L;ENSP00000360666:F2429L;ENSP00000344155:F2430L;ENSP00000420360:F189L;ENSP00000406741:F179L	ENSP00000265662:F2430L	F	-	3	2	ABCA2	139022223	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.232000	0.58645	1.895000	0.54865	0.485000	0.47835	TTC		0.662	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		3	43	0	0	0	1	0	3	43				
AGAP11	119385	broad.mit.edu	37	10	88768892	88768892	+	RNA	SNP	C	C	T	rs200595184	byFrequency	TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr10:88768892C>T	ENST00000444431.1	+	0	3492				RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										GTATGAGGAGCGGGATGCCTG	0.552													c|||	5	0.000998403	0.0038	0.0	5008	,	,		21241	0.0		0.0	False		,,,				2504	0.0					ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11		C	TRP/ARG	5,4401	9.9+/-24.2	0,5,2198	107.0	114.0	112.0		883	0.1	0.0	10		112	0,8600		0,0,4300	yes	missense	AGAP11	NM_133447.1	101	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	probably-damaging	295/551	88768892	5,13001	2203	4300	6503			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88768892C>T			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768892C>T						RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA				Q8TF27	AGA11_HUMAN			0	3492	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.552	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		10	193	0	0	0	1	0	10	193				
UVRAG	7405	broad.mit.edu	37	11	75851794	75851794	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr11:75851794G>C	ENST00000356136.3	+	15	1678	c.1437G>C	c.(1435-1437)aaG>aaC	p.K479N	UVRAG_ENST00000539288.1_Missense_Mutation_p.K107N|UVRAG_ENST00000531818.1_Missense_Mutation_p.K107N|UVRAG_ENST00000528420.1_Missense_Mutation_p.K378N|UVRAG_ENST00000538870.1_Missense_Mutation_p.K35N|UVRAG_ENST00000532130.1_Missense_Mutation_p.K107N|UVRAG_ENST00000533454.1_Missense_Mutation_p.K107N	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	479					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CTGTTCCTAAGAGACAAAGCT	0.473																																						ENST00000356136.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						c.(1435-1437)aaG>aaC		UV radiation resistance associated							69.0	72.0	71.0					11																	75851794		2200	4293	6493	SO:0001583	missense	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75851794G>C	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1437G>C	11.37:g.75851794G>C	ENSP00000348455:p.Lys479Asn					UVRAG_ENST00000539288.1_Missense_Mutation_p.K107N|UVRAG_ENST00000532130.1_Missense_Mutation_p.K107N|UVRAG_ENST00000531818.1_Missense_Mutation_p.K107N|UVRAG_ENST00000533454.1_Missense_Mutation_p.K107N|UVRAG_ENST00000538870.1_Missense_Mutation_p.K35N|UVRAG_ENST00000528420.1_Missense_Mutation_p.K378N	p.K479N	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN			15	1678	+			479					B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	c.1437G>C	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292372	0.40594	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000533454;ENST00000531818;ENST00000532130;ENST00000539288;ENST00000538870	T	0.51574	0.7	5.54	4.63	0.57726	.	0.423880	0.29980	N	0.010720	T	0.49558	0.1564	N	0.24115	0.695	0.50039	D	0.999846	D;P	0.63046	0.992;0.454	D;B	0.64410	0.925;0.105	T	0.46679	-0.9174	10	0.39692	T	0.17	-12.9495	10.2927	0.43605	0.1501:0.0:0.8499:0.0	.	35;479	B7Z6A0;Q9P2Y5	.;UVRAG_HUMAN	N	479;378;107;107;107;107;35	ENSP00000348455:K479N	ENSP00000348455:K479N	K	+	3	2	UVRAG	75529442	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	4.284000	0.58983	1.491000	0.48482	-0.122000	0.15005	AAG		0.473	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		8	159	0	0	0	1	0	8	159				
C6	729	broad.mit.edu	37	5	41176755	41176755	+	Missense_Mutation	SNP	T	T	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr5:41176755T>G	ENST00000263413.3	-	8	1254	c.990A>C	c.(988-990)aaA>aaC	p.K330N	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.K330N	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	330	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GGTGCAGATCTTTAGCTTTCG	0.353																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(988-990)aaA>aaC		complement component 6							122.0	122.0	122.0					5																	41176755		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41176755T>G	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.990A>C	5.37:g.41176755T>G	ENSP00000263413:p.Lys330Asn					C6_ENST00000337836.5_Missense_Mutation_p.K330N|C6_ENST00000475349.1_5'UTR	p.K330N	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			8	1254	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	330			MACPF.			Missense_Mutation	SNP	ENST00000263413.3	37	c.990A>C	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	T	2.055	-0.416849	0.04766	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.83755	-1.76;-1.76	5.65	-1.37	0.09056	Membrane attack complex component/perforin (MACPF) domain (3);	0.664046	0.16633	N	0.205988	T	0.45115	0.1326	N	0.00729	-1.24	0.19775	N	0.999955	B	0.02656	0.0	B	0.06405	0.002	T	0.49735	-0.8908	10	0.10636	T	0.68	-8.6725	3.1329	0.06429	0.1105:0.1035:0.342:0.4441	.	330	P13671	CO6_HUMAN	N	330	ENSP00000338861:K330N;ENSP00000263413:K330N	ENSP00000263413:K330N	K	-	3	2	C6	41212512	0.912000	0.30974	0.410000	0.26471	0.453000	0.32348	0.269000	0.18589	-0.040000	0.13580	-0.336000	0.08194	AAA		0.353	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			12	151	0	0	0	1	0	12	151				
PCSK5	5125	broad.mit.edu	37	9	78686709	78686709	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr9:78686709G>C	ENST00000545128.1	+	7	1327	c.789G>C	c.(787-789)caG>caC	p.Q263H	PCSK5_ENST00000376767.3_Missense_Mutation_p.Q263H|PCSK5_ENST00000376752.4_Missense_Mutation_p.Q263H	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	263	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TCAACCCCCAGCACGTGCACA	0.542																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(787-789)caG>caC		proprotein convertase subtilisin/kexin type 5							129.0	132.0	131.0					9																	78686709		2203	4300	6503	SO:0001583	missense	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78686709G>C		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.789G>C	9.37:g.78686709G>C	ENSP00000446280:p.Gln263His					PCSK5_ENST00000376752.4_Missense_Mutation_p.Q263H|PCSK5_ENST00000376767.3_Missense_Mutation_p.Q263H	p.Q263H	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			7	1327	+			263			Catalytic.		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.789G>C	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.531264	0.45073	.	.	ENSG00000099139	ENST00000545128;ENST00000376767;ENST00000396108;ENST00000376752	D;D;D	0.88431	-2.38;-2.38;-2.38	5.66	4.75	0.60458	.	.	.	.	.	D	0.85656	0.5747	L	0.57130	1.785	0.42482	D	0.99286	B;B	0.19817	0.039;0.009	B;B	0.26202	0.067;0.012	T	0.81529	-0.0891	9	0.42905	T	0.14	.	7.8279	0.29326	0.1383:0.1342:0.7275:0.0	.	263;263	Q92824-2;B1AMG5	.;.	H	263	ENSP00000446280:Q263H;ENSP00000365958:Q263H;ENSP00000365943:Q263H	ENSP00000365943:Q263H	Q	+	3	2	PCSK5	77876529	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.765000	0.38481	2.672000	0.90937	0.655000	0.94253	CAG		0.542	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				11	187	0	0	0	1	0	11	187				
SLC2A2	6514	broad.mit.edu	37	3	170732436	170732436	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr3:170732436C>T	ENST00000314251.3	-	3	272	c.193G>A	c.(193-195)Gat>Aat	p.D65N	SLC2A2_ENST00000382808.4_Intron	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	65					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	GGCAGTTCATCTGTACTGTTG	0.428																																						ENST00000314251.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(193-195)Gat>Aat		solute carrier family 2 (facilitated glucose transporter), member 2							219.0	212.0	215.0					3																	170732436		2203	4300	6503	SO:0001583	missense	6514				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	g.chr3:170732436C>T	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.193G>A	3.37:g.170732436C>T	ENSP00000323568:p.Asp65Asn					SLC2A2_ENST00000382808.4_Intron	p.D65N	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		3	272	-	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		65					A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	ENST00000314251.3	37	c.193G>A	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832129	0.32421	.	.	ENSG00000163581	ENST00000314251	D	0.82711	-1.64	6.08	-0.819	0.10829	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	3.564250	0.00763	N	0.001141	T	0.69904	0.3163	N	0.19112	0.55	0.09310	N	0.999999	B	0.02656	0.0	B	0.08055	0.003	T	0.53443	-0.8438	10	0.17369	T	0.5	.	5.9298	0.19132	0.0:0.5036:0.2188:0.2775	.	65	P11168	GTR2_HUMAN	N	65	ENSP00000323568:D65N	ENSP00000323568:D65N	D	-	1	0	SLC2A2	172215130	0.180000	0.23148	0.010000	0.14722	0.040000	0.13550	-0.326000	0.07965	-0.195000	0.10382	-0.136000	0.14681	GAT		0.428	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340		7	207	0	0	0	1	0	7	207				
LYZ	4069	broad.mit.edu	37	12	69746053	69746053	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr12:69746053C>T	ENST00000261267.2	+	3	423	c.355C>T	c.(355-357)Cgt>Tgt	p.R119C	LYZ_ENST00000549690.1_Intron|RP11-1143G9.4_ENST00000548900.1_RNA	NM_000239.2	NP_000230.1	P61626	LYSC_HUMAN	lysozyme	119					cell wall macromolecule catabolic process (GO:0016998)|cytolysis (GO:0019835)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|lysozyme activity (GO:0003796)	p.R119C(1)		endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)		L-Aspartic Acid(DB00128)	GAGGGTTGTCCGTGATCCACA	0.358																																						ENST00000261267.2																			1	Substitution - Missense(1)	p.R119C(1)	endometrium(1)	endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4						c.(355-357)Cgt>Tgt		lysozyme							121.0	109.0	113.0					12																	69746053		2203	4300	6503	SO:0001583	missense	4069				cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding	g.chr12:69746053C>T	X14008	CCDS8989.1	12q15	2014-09-17	2010-04-29			ENSG00000090382	3.2.1.17		6740	protein-coding gene	gene with protein product	"""renal amyloidosis"""	153450	"""lysozyme (renal amyloidosis)"""			8464497, 2546758	Standard	NM_000239		Approved		uc001suw.2	P61626	OTTHUMG00000169342	ENST00000261267.2:c.355C>T	12.37:g.69746053C>T	ENSP00000261267:p.Arg119Cys					LYZ_ENST00000549690.1_Intron	p.R119C	NM_000239.2	NP_000230.1	P61626	LYSC_HUMAN	Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)		3	423	+	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		119					P00695|Q13170|Q9UCF8	Missense_Mutation	SNP	ENST00000261267.2	37	c.355C>T	CCDS8989.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344800	0.24426	.	.	ENSG00000090382	ENST00000261267	T	0.75477	-0.94	5.95	-2.7	0.06004	Lysozyme-like domain (1);	1.284320	0.04797	N	0.432697	T	0.73521	0.3597	M	0.73962	2.25	0.20764	N	0.999855	B	0.25955	0.138	B	0.28385	0.089	T	0.61342	-0.7082	9	.	.	.	.	11.4796	0.50318	0.3553:0.5753:0.0694:0.0	.	119	P61626	LYSC_HUMAN	C	119	ENSP00000261267:R119C	.	R	+	1	0	LYZ	68032320	0.000000	0.05858	0.097000	0.21041	0.419000	0.31324	-1.044000	0.03532	-0.098000	0.12285	-1.109000	0.02080	CGT		0.358	LYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403624.2	NM_000239		25	91	0	0	0	1	0	25	91				
OR2M7	391196	broad.mit.edu	37	1	248487820	248487820	+	Silent	SNP	G	G	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr1:248487820G>T	ENST00000317965.2	-	1	79	c.51C>A	c.(49-51)atC>atA	p.I17I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TATGATTGAAGATTCCCAGGA	0.468																																						ENST00000317965.2																			0				breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42						c.(49-51)atC>atA		olfactory receptor, family 2, subfamily M, member 7							199.0	203.0	202.0					1																	248487820		2203	4300	6503	SO:0001819	synonymous_variant	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487820G>T	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.51C>A	1.37:g.248487820G>T							p.I17I	NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	79	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		17					B2RNL0|Q6IEX6	Silent	SNP	ENST00000317965.2	37	c.51C>A	CCDS31111.1																																																																																				0.468	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		9	230	1	0	4.68919e-08	1	5.1785e-08	9	230				
TTN	7273	broad.mit.edu	37	2	179584857	179584857	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:179584857C>T	ENST00000591111.1	-	79	22785	c.22561G>A	c.(22561-22563)Gag>Aag	p.E7521K	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E7838K|TTN_ENST00000342992.6_Missense_Mutation_p.E6594K|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13075	Ig-like 57.				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)			TTTTCACTCTCTCTGATGACT	0.438																																						ENST00000589042.1																			0				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						c.(23512-23514)Gag>Aag		titin							111.0	103.0	105.0					2																	179584857		1852	4095	5947	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179584857C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22561G>A	2.37:g.179584857C>T	ENSP00000465570:p.Glu7521Lys					TTN_ENST00000591111.1_Missense_Mutation_p.E7521K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E6594K|TTN_ENST00000342175.6_Intron	p.E7838K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		81	23736	-			7521			Ig-like 60.		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.23512G>A		.	.	.	.	.	.	.	.	.	.	C	15.23	2.773266	0.49786	.	.	ENSG00000155657	ENST00000342992	T	0.68025	-0.3	5.9	5.9	0.94986	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73659	0.3615	M	0.82630	2.6	0.80722	D	1	B	0.32693	0.38	B	0.33960	0.173	T	0.75465	-0.3308	9	0.87932	D	0	.	20.2768	0.98488	0.0:1.0:0.0:0.0	.	7521	Q8WZ42	TITIN_HUMAN	K	6594	ENSP00000343764:E6594K	ENSP00000343764:E6594K	E	-	1	0	TTN	179293102	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.802000	0.62539	2.808000	0.96608	0.650000	0.86243	GAG		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	106	0	0	0	1	0	20	106				
BRWD3	254065	broad.mit.edu	37	X	79990684	79990684	+	Silent	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chrX:79990684C>T	ENST00000373275.4	-	10	1143	c.927G>A	c.(925-927)gtG>gtA	p.V309V		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	309					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CAGTAAATTTCACCGGGCGAT	0.373																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(925-927)gtG>gtA		bromodomain and WD repeat domain containing 3							65.0	59.0	61.0					X																	79990684		2203	4300	6503	SO:0001819	synonymous_variant	254065							g.chrX:79990684C>T		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.927G>A	X.37:g.79990684C>T							p.V309V	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			10	1143	-			309					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	c.927G>A	CCDS14447.1																																																																																				0.373	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		13	42	0	0	0	1	0	13	42				
SULT1B1	27284	broad.mit.edu	37	4	70596325	70596325	+	Silent	SNP	G	G	T	rs368332134		TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr4:70596325G>T	ENST00000310613.3	-	7	969	c.672C>A	c.(670-672)atC>atA	p.I224I		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	224					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TGTGATGGATGATCCTATCCA	0.373																																						ENST00000310613.2																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(670-672)atC>atA		sulfotransferase family, cytosolic, 1B, member 1							167.0	153.0	158.0					4																	70596325		2203	4300	6503	SO:0001819	synonymous_variant	27284				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		g.chr4:70596325G>T	D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"""Sulfotransferases, cytosolic"""	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.672C>A	4.37:g.70596325G>T							p.I224I	NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN			7	969	-			224					O15497|Q96FI1|Q9UK34	Silent	SNP	ENST00000310613.3	37	c.672C>A	CCDS3530.1																																																																																				0.373	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251563.2	NM_014465		15	75	1	0	0.00244969	1	0.00251912	15	75				
MME	4311	broad.mit.edu	37	3	154855962	154855962	+	Silent	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr3:154855962C>T	ENST00000460393.1	+	9	912	c.792C>T	c.(790-792)atC>atT	p.I264I	MME_ENST00000492661.1_Silent_p.I264I|MME_ENST00000493237.1_Silent_p.I264I|MME_ENST00000360490.2_Silent_p.I264I|MME_ENST00000462745.1_Silent_p.I264I	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	264					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	GATTGCCCATCGATGAAAACC	0.338																																						ENST00000460393.1																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(790-792)atC>atT		membrane metallo-endopeptidase	Candoxatril(DB00616)						142.0	146.0	144.0					3																	154855962		2203	4300	6503	SO:0001819	synonymous_variant	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154855962C>T		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.792C>T	3.37:g.154855962C>T						MME_ENST00000462745.1_Silent_p.I264I|MME_ENST00000360490.2_Silent_p.I264I|MME_ENST00000493237.1_Silent_p.I264I|MME_ENST00000492661.1_Silent_p.I264I	p.I264I	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		9	912	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	264					A8K6U6|D3DNJ9|Q3MIX4	Silent	SNP	ENST00000460393.1	37	c.792C>T	CCDS3172.1																																																																																				0.338	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		19	271	0	0	0	1	0	19	271				
ALPK2	115701	broad.mit.edu	37	18	56202447	56202447	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr18:56202447C>A	ENST00000361673.3	-	5	5185	c.4972G>T	c.(4972-4974)Gga>Tga	p.G1658*	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1658						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCACGTTCTCCTGAAATAAAT	0.483																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(4972-4974)Gga>Tga		alpha-kinase 2							80.0	84.0	83.0					18																	56202447		2203	4300	6503	SO:0001587	stop_gained	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56202447C>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.4972G>T	18.37:g.56202447C>A	ENSP00000354991:p.Gly1658*						p.G1658*	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			5	5185	-			1658					Q6ZUX0|Q8NAT5|Q96L95	Nonsense_Mutation	SNP	ENST00000361673.3	37	c.4972G>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	44	10.527267	0.99421	.	.	ENSG00000198796	ENST00000361673	.	.	.	5.65	0.633	0.17712	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-6.8739	5.1687	0.15099	0.0:0.4293:0.1451:0.4256	.	.	.	.	X	1658	.	ENSP00000354991:G1658X	G	-	1	0	ALPK2	54353427	0.000000	0.05858	0.029000	0.17559	0.005000	0.04900	-1.382000	0.02546	0.290000	0.22444	-0.812000	0.03155	GGA		0.483	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		42	91	1	0	1.52319e-26	1	1.75859e-26	42	91				
SPTAN1	6709	broad.mit.edu	37	9	131348215	131348215	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr9:131348215G>A	ENST00000372731.4	+	19	2859	c.2749G>A	c.(2749-2751)Gac>Aac	p.D917N	SPTAN1_ENST00000358161.5_Missense_Mutation_p.D917N|SPTAN1_ENST00000372739.3_Missense_Mutation_p.D917N	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	917					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGGCAGCACTGACTATGGCAA	0.567																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000372739.3																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(2749-2751)Gac>Aac		spectrin, alpha, non-erythrocytic 1							97.0	83.0	88.0					9																	131348215		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131348215G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.2749G>A	9.37:g.131348215G>A	ENSP00000361816:p.Asp917Asn					SPTAN1_ENST00000372731.4_Missense_Mutation_p.D917N|SPTAN1_ENST00000358161.5_Missense_Mutation_p.D917N	p.D917N	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN			19	2859	+			917					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.2749G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836913	0.71373	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.35789	1.29;1.29;1.29	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.62648	0.2445	M	0.80183	2.485	0.80722	D	1	D;D;D;B;P	0.89917	0.997;0.997;1.0;0.412;0.926	D;D;D;B;P	0.79108	0.989;0.992;0.983;0.213;0.842	T	0.56613	-0.7950	10	0.23302	T	0.38	.	19.1131	0.93326	0.0:0.0:1.0:0.0	.	917;917;917;917;917	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	N	917	ENSP00000350882:D917N;ENSP00000361816:D917N;ENSP00000361824:D917N	ENSP00000350882:D917N	D	+	1	0	SPTAN1	130388036	1.000000	0.71417	0.981000	0.43875	0.978000	0.69477	9.420000	0.97426	2.832000	0.97577	0.655000	0.94253	GAC		0.567	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		9	118	0	0	0	1	0	9	118				
IDH2	3418	broad.mit.edu	37	15	90634788	90634788	+	Silent	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr15:90634788C>T	ENST00000330062.3	-	2	317	c.204G>A	c.(202-204)gaG>gaA	p.E68E	IDH2_ENST00000559482.1_Silent_p.E68E|IDH2_ENST00000539790.1_Intron|IDH2_ENST00000540499.2_Silent_p.E16E	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	68					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			GCACTACCTTCTCCTTGATGA	0.577			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		0				biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(202-204)gaG>gaA		isocitrate dehydrogenase 2 (NADP+), mitochondrial							178.0	142.0	154.0					15																	90634788		2200	4298	6498	SO:0001819	synonymous_variant	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90634788C>T		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.204G>A	15.37:g.90634788C>T						IDH2_ENST00000559482.1_Silent_p.E68E|IDH2_ENST00000540499.2_Silent_p.E16E|IDH2_ENST00000539790.1_Intron	p.E68E	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		2	317	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		68					B2R6L6|B4DFL2|Q96GT3	Silent	SNP	ENST00000330062.3	37	c.204G>A	CCDS10359.1																																																																																				0.577	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			14	96	0	0	0	1	0	14	96				
IL1R1	3554	broad.mit.edu	37	2	102785108	102785108	+	Missense_Mutation	SNP	A	A	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:102785108A>G	ENST00000410023.1	+	7	1024	c.706A>G	c.(706-708)Atg>Gtg	p.M236V	IL1R1_ENST00000424272.1_Missense_Mutation_p.M236V|IL1R1_ENST00000409288.1_Missense_Mutation_p.M236V|IL1R1_ENST00000409929.1_Missense_Mutation_p.M236V|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000233946.3_Missense_Mutation_p.M236V|IL1R1_ENST00000409329.1_Missense_Mutation_p.M236V			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	236	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TAATGAGACAATGGAAGTAGA	0.368																																						ENST00000410023.1																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19						c.(706-708)Atg>Gtg		interleukin 1 receptor, type I	Anakinra(DB00026)						156.0	163.0	161.0					2																	102785108		2203	4300	6503	SO:0001583	missense	3554				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	g.chr2:102785108A>G	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.706A>G	2.37:g.102785108A>G	ENSP00000386380:p.Met236Val					IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409288.1_Missense_Mutation_p.M236V|IL1R1_ENST00000424272.1_Missense_Mutation_p.M236V|IL1R1_ENST00000409929.1_Missense_Mutation_p.M236V|IL1R1_ENST00000233946.3_Missense_Mutation_p.M236V|IL1R1_ENST00000409329.1_Missense_Mutation_p.M236V	p.M236V			P14778	IL1R1_HUMAN			7	1024	+			236			Ig-like C2-type 3.		Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	c.706A>G	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	A	8.327	0.825694	0.16749	.	.	ENSG00000115594	ENST00000409929;ENST00000424272;ENST00000409329;ENST00000428279;ENST00000409288;ENST00000410023;ENST00000233946	T;T;T;T;T;T;T	0.02472	4.28;4.28;4.28;4.28;4.28;4.28;4.28	5.26	-4.64	0.03349	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.059640	0.07091	N	0.838719	T	0.02230	0.0069	L	0.32530	0.975	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.003;0.003;0.004	T	0.48603	-0.9021	10	0.19590	T	0.45	.	6.2603	0.20897	0.3365:0.3694:0.2942:0.0	.	236;236;236	B8ZZW4;P14778;B8ZZ73	.;IL1R1_HUMAN;.	V	236;236;236;92;236;236;236	ENSP00000386776:M236V;ENSP00000415366:M236V;ENSP00000387131:M236V;ENSP00000410461:M92V;ENSP00000386478:M236V;ENSP00000386380:M236V;ENSP00000233946:M236V	ENSP00000233946:M236V	M	+	1	0	IL1R1	102151540	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-1.276000	0.02815	-0.689000	0.05149	0.533000	0.62120	ATG		0.368	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			23	122	0	0	0	1	0	23	122				
RAI14	26064	broad.mit.edu	37	5	34811882	34811882	+	Missense_Mutation	SNP	A	A	T	rs140883072		TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr5:34811882A>T	ENST00000265109.3	+	9	855	c.568A>T	c.(568-570)Atg>Ttg	p.M190L	RAI14_ENST00000428746.2_Missense_Mutation_p.M190L|RAI14_ENST00000397449.1_Missense_Mutation_p.M183L|RAI14_ENST00000503673.1_Missense_Mutation_p.M190L|RAI14_ENST00000506376.1_Missense_Mutation_p.M182L|RAI14_ENST00000515799.1_Missense_Mutation_p.M193L|RAI14_ENST00000512629.1_Missense_Mutation_p.M190L	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	190						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AACTGCTCTCATGCTGGCCTG	0.373																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(568-570)Atg>Ttg		retinoic acid induced 14							60.0	63.0	62.0					5																	34811882		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34811882A>T	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.568A>T	5.37:g.34811882A>T	ENSP00000265109:p.Met190Leu					RAI14_ENST00000506376.1_Missense_Mutation_p.M182L|RAI14_ENST00000397449.1_Missense_Mutation_p.M183L|RAI14_ENST00000428746.2_Missense_Mutation_p.M190L|RAI14_ENST00000503673.1_Missense_Mutation_p.M190L|RAI14_ENST00000512629.1_Missense_Mutation_p.M190L|RAI14_ENST00000515799.1_Missense_Mutation_p.M193L	p.M190L	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			9	855	+	all_lung(31;0.000191)		190					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.568A>T	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.273186	0.59649	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;0.63;-0.13;-0.13	5.31	5.31	0.75309	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.49847	0.1581	N	0.25789	0.76	0.52099	D	0.999945	B;B;B;B	0.25850	0.023;0.136;0.112;0.028	B;B;B;B	0.24848	0.013;0.056;0.033;0.056	T	0.44143	-0.9347	9	0.25106	T	0.35	-24.9177	15.5768	0.76397	1.0:0.0:0.0:0.0	.	182;190;193;190	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	L	190;190;190;190;193;182;183	ENSP00000265109:M190L;ENSP00000422377:M190L;ENSP00000388725:M190L;ENSP00000422942:M190L;ENSP00000427123:M193L;ENSP00000423854:M182L;ENSP00000380591:M183L	ENSP00000265109:M190L	M	+	1	0	RAI14	34847639	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.477000	0.81069	2.126000	0.65437	0.528000	0.53228	ATG		0.373	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		29	131	0	0	0	1	0	29	131				
C22orf31	25770	broad.mit.edu	37	22	29456409	29456409	+	Silent	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr22:29456409G>A	ENST00000216071.4	-	2	477	c.426C>T	c.(424-426)atC>atT	p.I142I		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	142										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						CTACCTCTCTGATGCCTCCTG	0.527																																						ENST00000216071.4																			0				cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						c.(424-426)atC>atT		chromosome 22 open reading frame 31							115.0	105.0	109.0					22																	29456409		2203	4300	6503	SO:0001819	synonymous_variant	25770							g.chr22:29456409G>A	AL035364	CCDS13848.1	22q12.1	2006-07-05			ENSG00000100249	ENSG00000100249			26931	protein-coding gene	gene with protein product						15461802	Standard	XM_005261490		Approved	HS747E2A, bK747E2.1	uc003aej.1	O95567	OTTHUMG00000151011	ENST00000216071.4:c.426C>T	22.37:g.29456409G>A							p.I142I	NM_015370.1	NP_056185.1	O95567	CV031_HUMAN			2	477	-			142					A0AV97	Silent	SNP	ENST00000216071.4	37	c.426C>T	CCDS13848.1																																																																																				0.527	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320952.1	NM_015370		7	148	0	0	0	1	0	7	148				
GPRC5A	9052	broad.mit.edu	37	12	13061550	13061550	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr12:13061550G>A	ENST00000014914.5	+	2	1257	c.367G>A	c.(367-369)Gtc>Atc	p.V123I	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	123					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	GACCAAGCTCGTCCGGGGGAG	0.562																																						ENST00000014914.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(367-369)Gtc>Atc		G protein-coupled receptor, family C, group 5, member A	Tretinoin(DB00755)						149.0	149.0	149.0					12																	13061550		2203	4300	6503	SO:0001583	missense	9052					cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity	g.chr12:13061550G>A	AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"""GPCR / Class C : Orphans"""	9836	protein-coding gene	gene with protein product		604138	"""retinoic acid induced 3"", ""G protein-coupled receptor, family C, group 5, member A"""	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.367G>A	12.37:g.13061550G>A	ENSP00000014914:p.Val123Ile					GPRC5A_ENST00000542056.1_Intron	p.V123I	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0708)	2	1257	+		Prostate(47;0.141)	123					B3KV45|O95357	Missense_Mutation	SNP	ENST00000014914.5	37	c.367G>A	CCDS8657.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095685	0.56075	.	.	ENSG00000013588	ENST00000014914;ENST00000534831	D;D	0.88586	-2.4;-2.4	5.63	5.63	0.86233	GPCR, family 3, C-terminal (1);	0.077979	0.53938	D	0.000057	D	0.92996	0.7771	M	0.66297	2.02	0.38101	D	0.937252	D;D	0.71674	0.996;0.998	P;P	0.59948	0.775;0.866	D	0.92550	0.6049	10	0.37606	T	0.19	-14.1883	19.6703	0.95910	0.0:0.0:1.0:0.0	.	123;123	Q8NFJ5;A8K556	RAI3_HUMAN;.	I	123	ENSP00000014914:V123I;ENSP00000441627:V123I	ENSP00000014914:V123I	V	+	1	0	GPRC5A	12952817	1.000000	0.71417	0.504000	0.27639	0.018000	0.09664	3.134000	0.50538	2.659000	0.90383	0.561000	0.74099	GTC		0.562	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400682.1			73	235	0	0	0	1	0	73	235				
ANKRD33	341405	broad.mit.edu	37	12	52284807	52284807	+	Intron	SNP	G	G	T	rs371567187		TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr12:52284807G>T	ENST00000340970.4	+	5	1035				ANKRD33_ENST00000301190.6_Silent_p.P359P|ANKRD33_ENST00000538991.1_Intron|ANKRD33_ENST00000547119.1_3'UTR			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33						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)		p.P359P(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CCCAGTCCCCGCCAGGGAGTC	0.642																																						ENST00000301190.6																			1	Substitution - coding silent(1)	p.P359P(1)	lung(1)	endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(1075-1077)ccG>ccT		ankyrin repeat domain 33							22.0	25.0	24.0					12																	52284807		2202	4300	6502	SO:0001627	intron_variant	341405							g.chr12:52284807G>T		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.664+38G>T	12.37:g.52284807G>T						ANKRD33_ENST00000340970.4_Intron|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Intron	p.P359P	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0969)	5	1304	+			235					Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Silent	SNP	ENST00000340970.4	37	c.1077G>T	CCDS44892.1																																																																																				0.642	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		5	26	1	0	1.23904e-05	1	1.33922e-05	5	26				
DUSP27	92235	broad.mit.edu	37	1	167096486	167096486	+	Silent	SNP	C	C	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr1:167096486C>A	ENST00000361200.2	+	6	2284	c.2118C>A	c.(2116-2118)ccC>ccA	p.P706P	DUSP27_ENST00000271385.5_Silent_p.P706P|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.P706P			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	706					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCACCACACCCCTGCCTAACC	0.572																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(2116-2118)ccC>ccA		dual specificity phosphatase 27 (putative)							58.0	61.0	60.0					1																	167096486		2203	4300	6503	SO:0001819	synonymous_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167096486C>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2118C>A	1.37:g.167096486C>A						DUSP27_ENST00000271385.5_Silent_p.P706P|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.P706P	p.P706P			Q5VZP5	DUS27_HUMAN			6	2284	+			706					A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	c.2118C>A	CCDS30932.1																																																																																				0.572	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		5	48	1	0	0.000602214	1	0.000626895	5	48				
PBDC1	51260	broad.mit.edu	37	X	75393429	75393429	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chrX:75393429G>A	ENST00000373358.3	+	2	243	c.40G>A	c.(40-42)Gag>Aag	p.E14K	PBDC1_ENST00000373357.3_Missense_Mutation_p.E14K	NM_016500.3	NP_057584.2	Q9BVG4	PBDC1_HUMAN	polysaccharide biosynthesis domain containing 1	14																	GGTTTCCGGGGAGTTGGTGTC	0.592																																						ENST00000373358.3																			0											c.(40-42)Gag>Aag		polysaccharide biosynthesis domain containing 1							142.0	102.0	116.0					X																	75393429		2203	4300	6503	SO:0001583	missense	51260							g.chrX:75393429G>A	BC001220	CCDS14432.1, CCDS75995.1	Xq13.2	2012-11-28	2012-11-28	2012-11-28	ENSG00000102390	ENSG00000102390			28790	protein-coding gene	gene with protein product			"""chromosome X open reading frame 26"""	CXorf26		11042152	Standard	NM_016500		Approved	MGC874	uc004ecl.1	Q9BVG4	OTTHUMG00000021876	ENST00000373358.3:c.40G>A	X.37:g.75393429G>A	ENSP00000362456:p.Glu14Lys					PBDC1_ENST00000373357.3_Missense_Mutation_p.E14K	p.E14K	NM_016500.3	NP_057584.2					2	243	+									Missense_Mutation	SNP	ENST00000373358.3	37	c.40G>A	CCDS14432.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092359	0.76756	.	.	ENSG00000102390	ENST00000373358;ENST00000373357	.	.	.	4.6	4.6	0.57074	.	0.100378	0.64402	D	0.000002	T	0.49983	0.1589	L	0.59436	1.845	0.44946	D	0.997965	P	0.49185	0.92	B	0.42386	0.386	T	0.57825	-0.7744	9	0.72032	D	0.01	-22.9906	11.8754	0.52544	0.0:0.0:1.0:0.0	.	14	Q9BVG4	CX026_HUMAN	K	14	.	ENSP00000362455:E14K	E	+	1	0	CXorf26	75309831	1.000000	0.71417	0.991000	0.47740	0.874000	0.50279	5.942000	0.70203	2.287000	0.76781	0.600000	0.82982	GAG		0.592	PBDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057294.1	NM_016500		14	49	0	0	0	1	0	14	49				
DRD5	1816	broad.mit.edu	37	4	9784050	9784050	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr4:9784050G>A	ENST00000304374.2	+	1	793	c.397G>A	c.(397-399)Gtc>Atc	p.V133I		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	133					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GAACCTGTGCGTCATCAGCGT	0.622																																						ENST00000304374.2																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(397-399)Gtc>Atc		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						46.0	44.0	44.0					4																	9784050		2203	4300	6503	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784050G>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.397G>A	4.37:g.9784050G>A	ENSP00000306129:p.Val133Ile						p.V133I	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	793	+			133					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.397G>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	9.832	1.188570	0.21954	.	.	ENSG00000169676	ENST00000304374	T	0.39997	1.05	4.35	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.286851	0.33290	N	0.005080	T	0.26593	0.0650	L	0.33137	0.985	0.34699	D	0.726516	B	0.28801	0.223	B	0.26517	0.07	T	0.24048	-1.0171	10	0.22109	T	0.4	.	8.1359	0.31054	0.2636:0.0:0.7364:0.0	.	133	P21918	DRD5_HUMAN	I	133	ENSP00000306129:V133I	ENSP00000306129:V133I	V	+	1	0	DRD5	9393148	0.994000	0.37717	0.989000	0.46669	0.943000	0.58893	2.300000	0.43620	0.118000	0.18165	0.305000	0.20034	GTC		0.622	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			16	32	0	0	0	1	0	16	32				
OR51G2	81282	broad.mit.edu	37	11	4936675	4936675	+	Silent	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr11:4936675C>T	ENST00000322013.3	-	1	247	c.219G>A	c.(217-219)ctG>ctA	p.L73L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAGGTCAATCAGAGCCAGCA	0.483																																						ENST00000322013.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(217-219)ctG>ctA		olfactory receptor, family 51, subfamily G, member 2							88.0	78.0	82.0					11																	4936675		2201	4298	6499	SO:0001819	synonymous_variant	81282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4936675C>T	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.219G>A	11.37:g.4936675C>T						MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.L73L	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	247	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	73					Q6IFH7	Silent	SNP	ENST00000322013.3	37	c.219G>A	CCDS31365.1																																																																																				0.483	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238		7	30	0	0	0	1	0	7	30				
TACC1	6867	broad.mit.edu	37	8	38681515	38681515	+	Intron	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr8:38681515G>A	ENST00000317827.4	+	4	1770				TACC1_ENST00000519416.1_Intron|TACC1_ENST00000330691.6_Missense_Mutation_p.E29K|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000518415.1_Intron|TACC1_ENST00000379931.3_Missense_Mutation_p.E467K|TACC1_ENST00000520973.1_Intron|TACC1_ENST00000520615.1_Intron|TACC1_ENST00000443286.2_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520340.1_Intron|TACC1_ENST00000520611.1_Intron	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1						cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CAGGACTACTGAACAAGTGAA	0.438																																						ENST00000379931.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17						c.(1399-1401)Gaa>Aaa		transforming, acidic coiled-coil containing protein 1							161.0	164.0	163.0					8																	38681515		876	1991	2867	SO:0001627	intron_variant	6867				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	g.chr8:38681515G>A	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.1392-1311G>A	8.37:g.38681515G>A						TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520973.1_Intron|TACC1_ENST00000330691.6_Missense_Mutation_p.E29K|TACC1_ENST00000520611.1_Intron|TACC1_ENST00000317827.4_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000443286.2_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520615.1_Intron|TACC1_ENST00000519416.1_Intron|TACC1_ENST00000520340.1_Intron|TACC1_ENST00000518415.1_Intron	p.E467K			O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		4	1778	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	464			SPAZ 2.		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	ENST00000317827.4	37	c.1399G>A	CCDS6109.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102050	0.56183	.	.	ENSG00000147526	ENST00000521050;ENST00000330691;ENST00000379931	T;T	0.52057	0.68;3.04	5.93	5.93	0.95920	.	0.000000	0.43919	D	0.000506	T	0.67896	0.2942	.	.	.	0.37975	D	0.933401	D;D	0.69078	0.99;0.997	P;D	0.66716	0.814;0.946	T	0.68435	-0.5409	9	0.42905	T	0.14	-6.6231	18.5312	0.90993	0.0:0.0:1.0:0.0	.	467;29	O75410-2;O75410-4	.;.	K	29;29;467	ENSP00000332794:E29K;ENSP00000369263:E467K	ENSP00000332794:E29K	E	+	1	0	TACC1	38800672	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.998000	0.88491	2.808000	0.96608	0.655000	0.94253	GAA		0.438	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		9	210	0	0	0	1	0	9	210				
POLN	353497	broad.mit.edu	37	4	2082732	2082732	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr4:2082732C>T	ENST00000511885.2	-	23	2693	c.2340G>A	c.(2338-2340)atG>atA	p.M780I	POLN_ENST00000382865.1_Missense_Mutation_p.M780I			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	780					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			AGACATGGATCATGGCCAGCT	0.592								DNA polymerases (catalytic subunits)																														ENST00000511885.2																			0				kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28						c.(2338-2340)atG>atA	DNA polymerases (catalytic subunits)	polymerase (DNA directed) nu							170.0	158.0	162.0					4																	2082732		2203	4300	6503	SO:0001583	missense	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2082732C>T	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.2340G>A	4.37:g.2082732C>T	ENSP00000435506:p.Met780Ile					POLN_ENST00000382865.1_Missense_Mutation_p.M780I	p.M780I			Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		23	2693	-			780					A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	c.2340G>A	CCDS3360.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969289	0.53614	.	.	ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313	D;D	0.96856	-4.15;-4.15	4.15	4.15	0.48705	DNA-directed DNA polymerase, family A, palm domain (2);	0.048268	0.85682	D	0.000000	D	0.98074	0.9365	M	0.88241	2.94	0.42048	D	0.991108	D;D	0.89917	0.999;1.0	D;D	0.91635	0.974;0.999	D	0.98635	1.0673	10	0.87932	D	0	-20.5308	12.1593	0.54096	0.0:1.0:0.0:0.0	.	471;780	E9PE06;Q7Z5Q5	.;DPOLN_HUMAN	I	780;780;471	ENSP00000435506:M780I;ENSP00000372316:M780I	ENSP00000253313:M471I	M	-	3	0	POLN	2052530	1.000000	0.71417	0.986000	0.45419	0.356000	0.29392	3.362000	0.52314	2.309000	0.77851	0.561000	0.74099	ATG		0.592	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		5	97	0	0	0	1	0	5	97				
IGF2BP3	10643	broad.mit.edu	37	7	23391151	23391151	+	Silent	SNP	G	G	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr7:23391151G>C	ENST00000258729.3	-	6	812	c.456C>G	c.(454-456)gcC>gcG	p.A152A	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	152	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						CAGGGATATAGGCTACTTTCA	0.537																																						ENST00000258729.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						c.(454-456)gcC>gcG		insulin-like growth factor 2 mRNA binding protein 3							41.0	46.0	45.0					7																	23391151		2203	4300	6503	SO:0001819	synonymous_variant	10643				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr7:23391151G>C	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.456C>G	7.37:g.23391151G>C						IGF2BP3_ENST00000491719.1_5'UTR	p.A152A	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN			6	812	-			152			RRM 2.		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	ENST00000258729.3	37	c.456C>G	CCDS5382.1																																																																																				0.537	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		6	98	0	0	0	1	0	6	98				
SF3B3	23450	broad.mit.edu	37	16	70602960	70602960	+	Silent	SNP	T	T	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr16:70602960T>C	ENST00000302516.5	+	23	3391	c.3180T>C	c.(3178-3180)ccT>ccC	p.P1060P		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1060					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GGCTCCCACCTAACACCAATG	0.547																																						ENST00000302516.5																			0				breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53						c.(3178-3180)ccT>ccC		splicing factor 3b, subunit 3, 130kDa							69.0	60.0	63.0					16																	70602960		2198	4300	6498	SO:0001819	synonymous_variant	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70602960T>C	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.3180T>C	16.37:g.70602960T>C							p.P1060P	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN			23	3391	+		Ovarian(137;0.0694)	1060					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	37	c.3180T>C	CCDS10894.1																																																																																				0.547	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		3	33	0	0	0	1	0	3	33				
AP1G1	164	broad.mit.edu	37	16	71805057	71805057	+	Splice_Site	SNP	A	A	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr16:71805057A>G	ENST00000299980.4	-	5	1007		c.e5+1		AP1G1_ENST00000569748.1_Splice_Site|AP1G1_ENST00000393512.3_Splice_Site|AP1G1_ENST00000433195.2_Splice_Site|AP1G1_ENST00000423132.2_Splice_Site	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				AAATTACATTACCATGGTTCT	0.398																																						ENST00000299980.4																			0				breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28						c.e5+1		adaptor-related protein complex 1, gamma 1 subunit							89.0	80.0	83.0					16																	71805057		2198	4300	6498	SO:0001630	splice_region_variant	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71805057A>G	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.565+1T>C	16.37:g.71805057A>G						AP1G1_ENST00000393512.3_Splice_Site|AP1G1_ENST00000569748.1_Splice_Site|AP1G1_ENST00000433195.2_Splice_Site|AP1G1_ENST00000423132.2_Splice_Site		NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN			5	1007	-		Ovarian(137;0.125)						O75709|O75842|Q9UG09|Q9Y3U4	Splice_Site	SNP	ENST00000299980.4	37		CCDS32480.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.084731	0.76642	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000538574;ENST00000425422	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5822	0.76452	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AP1G1	70362558	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.962000	0.93254	2.080000	0.62538	0.533000	0.62120	.		0.398	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1		Intron	7	61	0	0	0	1	0	7	61				
LDLRAD4	753	broad.mit.edu	37	18	13645287	13645287	+	Silent	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr18:13645287G>A	ENST00000359446.5	+	6	1020	c.552G>A	c.(550-552)caG>caA	p.Q184Q	LDLRAD4_ENST00000585931.1_Silent_p.Q107Q|LDLRAD4_ENST00000399848.3_Silent_p.Q166Q|LDLRAD4_ENST00000361205.4_Silent_p.Q184Q|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000586765.1_Silent_p.Q129Q|LDLRAD4_ENST00000592991.1_Silent_p.Q86Q|LDLRAD4_ENST00000587757.1_Silent_p.Q147Q	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	184					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										CTCCTTACCAGGGGCCCTGCA	0.597																																						ENST00000361205.4																			0											c.(550-552)caG>caA		low density lipoprotein receptor class A domain containing 4							82.0	89.0	87.0					18																	13645287		2203	4300	6503	SO:0001819	synonymous_variant	753							g.chr18:13645287G>A	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.552G>A	18.37:g.13645287G>A						LDLRAD4_ENST00000359446.5_Silent_p.Q184Q|LDLRAD4_ENST00000586765.1_Silent_p.Q129Q|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000585931.1_Silent_p.Q107Q|LDLRAD4_ENST00000592991.1_Silent_p.Q86Q|LDLRAD4_ENST00000399848.3_Silent_p.Q166Q|LDLRAD4_ENST00000587757.1_Silent_p.Q147Q	p.Q184Q	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1					7	1220	+								B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Silent	SNP	ENST00000359446.5	37	c.552G>A	CCDS32793.1																																																																																				0.597	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		4	117	0	0	0	1	0	4	117				
MBTD1	54799	broad.mit.edu	37	17	49279000	49279000	+	Missense_Mutation	SNP	T	T	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr17:49279000T>C	ENST00000586178.1	-	12	1520	c.1177A>G	c.(1177-1179)Ata>Gta	p.I393V	MBTD1_ENST00000415868.1_Missense_Mutation_p.I393V|MBTD1_ENST00000376381.2_Missense_Mutation_p.I393V	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	393					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			AATGGGTCTATAGCTTCCAAT	0.318																																						ENST00000586178.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12						c.(1177-1179)Ata>Gta		mbt domain containing 1							178.0	186.0	184.0					17																	49279000		2203	4297	6500	SO:0001583	missense	54799				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr17:49279000T>C	AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.1177A>G	17.37:g.49279000T>C	ENSP00000468304:p.Ile393Val					MBTD1_ENST00000415868.1_Missense_Mutation_p.I393V|MBTD1_ENST00000376381.2_Missense_Mutation_p.I393V	p.I393V	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		12	1520	-			393					Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	ENST00000586178.1	37	c.1177A>G	CCDS11581.2	.	.	.	.	.	.	.	.	.	.	T	16.24	3.068625	0.55539	.	.	ENSG00000011258	ENST00000405860;ENST00000415868;ENST00000376381	T;T	0.24151	1.87;1.87	5.7	5.7	0.88788	.	0.135987	0.64402	N	0.000005	T	0.18087	0.0434	N	0.08118	0	0.54753	D	0.999982	B;P;B	0.37525	0.033;0.598;0.053	B;P;B	0.46026	0.159;0.501;0.099	T	0.04191	-1.0970	10	0.02654	T	1	.	15.9642	0.79952	0.0:0.0:0.0:1.0	.	393;393;229	Q05BQ5;Q05BQ5-2;Q05BQ5-3	MBTD1_HUMAN;.;.	V	393	ENSP00000403946:I393V;ENSP00000365561:I393V	ENSP00000365561:I393V	I	-	1	0	MBTD1	46633999	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.171000	0.68590	0.528000	0.53228	ATA		0.318	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318124.1			51	153	0	0	0	1	0	51	153				
AKAP9	10142	broad.mit.edu	37	7	91708996	91708996	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr7:91708996C>T	ENST00000359028.2	+	32	7810	c.7585C>T	c.(7585-7587)Cag>Tag	p.Q2529*	AKAP9_ENST00000356239.3_Nonsense_Mutation_p.Q2517*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.Q2529*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2529	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAACTTACCCAGTGTTATAA	0.333			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(7585-7587)Cag>Tag		A kinase (PRKA) anchor protein 9							48.0	48.0	48.0					7																	91708996		2203	4300	6503	SO:0001587	stop_gained	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91708996C>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.7585C>T	7.37:g.91708996C>T	ENSP00000351922:p.Gln2529*					AKAP9_ENST00000356239.3_Nonsense_Mutation_p.Q2517*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.Q2529*	p.Q2529*			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		32	7810	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2529			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	ENST00000359028.2	37	c.7585C>T		.	.	.	.	.	.	.	.	.	.	C	48	14.672325	0.99805	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	.	.	.	4.09	4.09	0.47781	.	0.000000	0.36167	N	0.002749	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	17.6236	0.88088	0.0:1.0:0.0:0.0	.	.	.	.	X	2517;2529;2529;2521;363	.	ENSP00000348573:Q2517X	Q	+	1	0	AKAP9	91546932	0.759000	0.28416	0.503000	0.27626	0.687000	0.40016	2.179000	0.42528	2.583000	0.87209	0.591000	0.81541	CAG		0.333	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		13	87	0	0	0	1	0	13	87				
PHACTR2	9749	broad.mit.edu	37	6	144093548	144093548	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr6:144093548C>A	ENST00000427704.2	+	7	1483	c.1353C>A	c.(1351-1353)taC>taA	p.Y451*	PHACTR2_ENST00000440869.2_Nonsense_Mutation_p.Y462*|PHACTR2_ENST00000367584.4_Nonsense_Mutation_p.Y439*|PHACTR2_ENST00000305766.6_Nonsense_Mutation_p.Y371*|PHACTR2_ENST00000367582.3_Nonsense_Mutation_p.Y382*	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	451							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CTATCTTGTACACCGATGATG	0.512																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	ENST00000427704.2																			0				NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(1351-1353)taC>taA		phosphatase and actin regulator 2							71.0	81.0	77.0					6																	144093548		2146	4248	6394	SO:0001587	stop_gained	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144093548C>A	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.1353C>A	6.37:g.144093548C>A	ENSP00000391763:p.Tyr451*					PHACTR2_ENST00000305766.6_Nonsense_Mutation_p.Y371*|PHACTR2_ENST00000440869.2_Nonsense_Mutation_p.Y462*|PHACTR2_ENST00000367582.3_Nonsense_Mutation_p.Y382*|PHACTR2_ENST00000367584.4_Nonsense_Mutation_p.Y439*	p.Y451*	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	7	1483	+			451					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Nonsense_Mutation	SNP	ENST00000427704.2	37	c.1353C>A	CCDS47492.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694288	0.88735	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582	.	.	.	5.55	2.8	0.32819	.	0.111999	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2126	0.48808	0.0:0.7979:0.0:0.2021	.	.	.	.	X	439;451;371;462;382	.	ENSP00000305530:Y371X	Y	+	3	2	PHACTR2	144135241	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	0.991000	0.29654	0.725000	0.32318	0.462000	0.41574	TAC		0.512	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		7	18	1	0	1.06961e-07	1	1.17611e-07	7	18				
RASGRF2	5924	broad.mit.edu	37	5	80513198	80513198	+	Missense_Mutation	SNP	A	A	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr5:80513198A>G	ENST00000265080.4	+	25	3525	c.3458A>G	c.(3457-3459)tAt>tGt	p.Y1153C	CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000503483.2_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1153	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GCAGTTCCTTATCTTGGGATG	0.418																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(3457-3459)tAt>tGt		Ras protein-specific guanine nucleotide-releasing factor 2							139.0	139.0	139.0					5																	80513198		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80513198A>G	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.3458A>G	5.37:g.80513198A>G	ENSP00000265080:p.Tyr1153Cys					CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000503483.2_RNA	p.Y1153C	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	25	3525	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	1153			Ras-GEF.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.3458A>G	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.238408	0.79800	.	.	ENSG00000113319	ENST00000265080	T	0.34472	1.36	5.93	5.93	0.95920	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine-nucleotide exchange factor, conserved site (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.72003	0.3407	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81313	-0.0989	10	0.87932	D	0	.	16.0381	0.80645	1.0:0.0:0.0:0.0	.	1153	O14827	RGRF2_HUMAN	C	1153	ENSP00000265080:Y1153C	ENSP00000265080:Y1153C	Y	+	2	0	RASGRF2	80548954	1.000000	0.71417	0.986000	0.45419	0.749000	0.42624	9.339000	0.96797	2.263000	0.75096	0.533000	0.62120	TAT		0.418	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		42	88	0	0	0	1	0	42	88				
EIF2B4	8890	broad.mit.edu	37	2	27592056	27592056	+	Missense_Mutation	SNP	C	C	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:27592056C>G	ENST00000347454.4	-	4	406	c.235G>C	c.(235-237)Gaa>Caa	p.E79Q	SNX17_ENST00000233575.2_5'Flank|AC074117.10_ENST00000412749.1_RNA|EIF2B4_ENST00000493344.2_Missense_Mutation_p.E100Q|EIF2B4_ENST00000451130.2_Missense_Mutation_p.E99Q|EIF2B4_ENST00000445933.2_Missense_Mutation_p.E78Q|SNX17_ENST00000537606.1_5'Flank|SNX17_ENST00000542478.1_5'Flank|SNX17_ENST00000543024.1_5'Flank	NM_001034116.1|NM_015636.3	NP_001029288.1|NP_056451.3	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	79					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation (GO:0045947)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translation (GO:0006417)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGCCCGATTCTGGCAGTTCT	0.547																																						ENST00000493344.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10						c.(298-300)Gaa>Caa		eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa							45.0	46.0	46.0					2																	27592056		2203	4300	6503	SO:0001583	missense	8890				myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding	g.chr2:27592056C>G	AJ011306	CCDS33164.1, CCDS46244.1, CCDS46245.1	2p23.3	2008-02-05	2002-08-29		ENSG00000115211	ENSG00000115211			3260	protein-coding gene	gene with protein product		606687	"""eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)"""			8929216, 7982969	Standard	NM_172195		Approved	EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2B	uc002rjz.3	Q9UI10	OTTHUMG00000151927	ENST00000347454.4:c.235G>C	2.37:g.27592056C>G	ENSP00000233552:p.Glu79Gln					EIF2B4_ENST00000451130.2_Missense_Mutation_p.E99Q|EIF2B4_ENST00000347454.4_Missense_Mutation_p.E79Q|EIF2B4_ENST00000445933.2_Missense_Mutation_p.E78Q	p.E100Q			Q9UI10	EI2BD_HUMAN			3	610	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		79					Q53RY7|Q5BJF4|Q9BUV9|Q9UBG4|Q9UIQ9|Q9UJ95	Missense_Mutation	SNP	ENST00000347454.4	37	c.298G>C	CCDS33164.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143622	0.37825	.	.	ENSG00000115211	ENST00000347454;ENST00000414437;ENST00000445933;ENST00000451130;ENST00000493344	T;D;D;T	0.94537	0.98;-3.45;-3.45;0.98	5.27	4.4	0.53042	.	0.342510	0.31279	N	0.007937	D	0.83871	0.5348	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.27117	0.004;0.168;0.053;0.031;0.168	B;B;B;B;B	0.19666	0.001;0.026;0.026;0.012;0.026	T	0.71354	-0.4618	10	0.13470	T	0.59	-0.0405	7.9648	0.30091	0.0:0.8211:0.0:0.1789	.	72;76;78;79;99	Q59FC8;F5H6W1;Q9UI10-3;Q9UI10;Q9UI10-2	.;.;.;EI2BD_HUMAN;.	Q	79;76;78;99;100	ENSP00000233552:E79Q;ENSP00000394397:E78Q;ENSP00000394869:E99Q;ENSP00000429323:E100Q	ENSP00000233552:E79Q	E	-	1	0	EIF2B4	27445560	0.032000	0.19561	0.005000	0.12908	0.939000	0.58152	1.539000	0.36104	1.468000	0.48064	0.561000	0.74099	GAA		0.547	EIF2B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324448.1			28	125	0	0	0	1	0	28	125				
MYH3	4621	broad.mit.edu	37	17	10543903	10543903	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr17:10543903G>A	ENST00000583535.1	-	20	2353	c.2266C>T	c.(2266-2268)Cag>Tag	p.Q756*	MYH3_ENST00000226209.7_Nonsense_Mutation_p.Q756*	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	756	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AATTTGTACTGAGTGTGGTCA	0.453																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(2266-2268)Cag>Tag		myosin, heavy chain 3, skeletal muscle, embryonic							159.0	142.0	148.0					17																	10543903		2203	4300	6503	SO:0001587	stop_gained	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10543903G>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.2266C>T	17.37:g.10543903G>A	ENSP00000464317:p.Gln756*					MYH3_ENST00000226209.7_Nonsense_Mutation_p.Q756*	p.Q756*	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			20	2353	-			756			Myosin head-like.		Q15492	Nonsense_Mutation	SNP	ENST00000583535.1	37	c.2266C>T	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	39	7.591393	0.98378	.	.	ENSG00000109063	ENST00000226209	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.7963	0.96484	0.0:0.0:1.0:0.0	.	.	.	.	X	756	.	ENSP00000226209:Q756X	Q	-	1	0	MYH3	10484628	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.908000	0.87438	2.756000	0.94617	0.561000	0.74099	CAG		0.453	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		27	164	0	0	0	1	0	27	164				
HID1	283987	broad.mit.edu	37	17	72954850	72954850	+	Silent	SNP	G	G	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr17:72954850G>C	ENST00000425042.2	-	10	1235	c.1158C>G	c.(1156-1158)ctC>ctG	p.L386L		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	386					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											GCACGAAGAAGAGGAATTTCT	0.627											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000425042.2																			0											c.(1156-1158)ctC>ctG		HID1 domain containing							37.0	39.0	38.0					17																	72954850		2203	4300	6503	SO:0001819	synonymous_variant	283987							g.chr17:72954850G>C		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.1158C>G	17.37:g.72954850G>C			OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1141		p.L386L	NM_030630.2	NP_085133.1					10	1235	-								Q8N5L6|Q8TE83|Q9NT34	Silent	SNP	ENST00000425042.2	37	c.1158C>G	CCDS32726.1																																																																																				0.627	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630		4	34	0	0	0	1	0	4	34				
FAM50A	9130	broad.mit.edu	37	X	153678776	153678776	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chrX:153678776G>A	ENST00000393600.3	+	13	1126	c.1016G>A	c.(1015-1017)cGc>cAc	p.R339H		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	339					spermatogenesis (GO:0007283)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	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)					CACTAGATCCGCTGAGCATCC	0.692																																						ENST00000393600.3																			0				breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15						c.(1015-1017)cGc>cAc		family with sequence similarity 50, member A							69.0	55.0	60.0					X																	153678776		2203	4300	6503	SO:0001583	missense	9130				spermatogenesis	nucleus		g.chrX:153678776G>A	BC000028	CCDS14751.1	Xq28	2008-02-05			ENSG00000071859	ENSG00000071859			18786	protein-coding gene	gene with protein product	"""DNA segment on chromosome X (unique) 9928 expressed sequence"""	300453				9339379, 9039504	Standard	NM_004699		Approved	DXS9928E, XAP5, HXC-26, 9F	uc004fll.4	Q14320	OTTHUMG00000033292	ENST00000393600.3:c.1016G>A	X.37:g.153678776G>A	ENSP00000377225:p.Arg339His						p.R339H	NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN			13	1126	+	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)		339					A8KAQ4|B2R997|Q5HY37|Q6PJH5	Missense_Mutation	SNP	ENST00000393600.3	37	c.1016G>A	CCDS14751.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810059	0.50421	.	.	ENSG00000071859	ENST00000393600	.	.	.	4.26	4.26	0.50523	.	0.052258	0.64402	D	0.000001	T	0.56673	0.2001	N	0.21194	0.64	0.36655	D	0.877599	D	0.89917	1.0	D	0.73380	0.98	T	0.66344	-0.5947	9	0.72032	D	0.01	.	11.6815	0.51461	0.0:0.0:1.0:0.0	.	339	Q14320	FA50A_HUMAN	H	339	.	ENSP00000377225:R339H	R	+	2	0	FAM50A	153331970	1.000000	0.71417	0.999000	0.59377	0.222000	0.24845	3.691000	0.54720	2.039000	0.60335	0.600000	0.82982	CGC		0.692	FAM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081643.2	NM_004699		8	18	0	0	0	1	0	8	18				
CD8A	925	broad.mit.edu	37	2	87016465	87016465	+	Silent	SNP	G	G	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:87016465G>T	ENST00000409511.2	-	7	1636	c.606C>A	c.(604-606)atC>atA	p.I202I	CD8A_ENST00000352580.3_Intron|CD8A_ENST00000538832.1_Silent_p.I243I|CD8A_ENST00000456996.2_Intron|CD8A_ENST00000283635.3_Silent_p.I202I|CD8A_ENST00000409781.1_Silent_p.I165I	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	202					antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						AGTAAAGGGTGATAACCAGTG	0.617																																						ENST00000409511.2																			0				lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						c.(604-606)atC>atA		CD8a molecule							79.0	82.0	81.0					2																	87016465		2203	4300	6503	SO:0001819	synonymous_variant	925				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87016465G>T		CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1706	protein-coding gene	gene with protein product		186910	"""CD8 antigen, alpha polypeptide (p32)"", ""T-cell surface glycoprotein CD8 alpha chain"""	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.606C>A	2.37:g.87016465G>T						CD8A_ENST00000352580.3_Intron|CD8A_ENST00000538832.1_Silent_p.I243I|CD8A_ENST00000456996.2_Intron|CD8A_ENST00000283635.3_Silent_p.I202I|CD8A_ENST00000409781.1_Silent_p.I165I	p.I202I	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN			7	1636	-			202					B4DT80|D6W5M8|Q13970|Q4ZG17	Silent	SNP	ENST00000409511.2	37	c.606C>A	CCDS1992.1																																																																																				0.617	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330784.3	NM_001768		11	172	1	0	5.50884e-06	1	5.97968e-06	11	172				
C9orf43	257169	broad.mit.edu	37	9	116185655	116185655	+	Missense_Mutation	SNP	G	G	A	rs148106673	byFrequency	TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr9:116185655G>A	ENST00000288462.4	+	7	979	c.533G>A	c.(532-534)cGa>cAa	p.R178Q	C9orf43_ENST00000374165.1_Missense_Mutation_p.R178Q	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	178										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						GCAGGAACACGAGTAGGAACA	0.473													G|||	12	0.00239617	0.0	0.0029	5008	,	,		21484	0.0		0.0099	False		,,,				2504	0.0					ENST00000288462.4																			0				breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						c.(532-534)cGa>cAa		chromosome 9 open reading frame 43		G	GLN/ARG	6,4400	12.9+/-30.5	0,6,2197	113.0	101.0	105.0		533	-2.6	0.0	9	dbSNP_134	105	72,8528	42.2+/-99.7	1,70,4229	yes	missense	C9orf43	NM_152786.1	43	1,76,6426	AA,AG,GG		0.8372,0.1362,0.5997	benign	178/462	116185655	78,12928	2203	4300	6503	SO:0001583	missense	257169							g.chr9:116185655G>A	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.533G>A	9.37:g.116185655G>A	ENSP00000288462:p.Arg178Gln					C9orf43_ENST00000374165.1_Missense_Mutation_p.R178Q	p.R178Q	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN			7	979	+			178						Missense_Mutation	SNP	ENST00000288462.4	37	c.533G>A	CCDS6796.1	9	0.004120879120879121	0	0.0	1	0.0027624309392265192	0	0.0	8	0.010554089709762533	G	9.913	1.210103	0.22289	0.001362	0.008372	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.40225	1.04;1.04	4.33	-2.59	0.06209	.	1.434620	0.04777	N	0.429022	T	0.12475	0.0303	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.08229	-1.0732	10	0.15952	T	0.53	4.9166	0.9211	0.01315	0.3655:0.1674:0.3045:0.1626	.	178	Q8TAL5	CI043_HUMAN	Q	178	ENSP00000363280:R178Q;ENSP00000288462:R178Q	ENSP00000288462:R178Q	R	+	2	0	C9orf43	115225476	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.062000	0.11674	-0.593000	0.05844	-1.261000	0.01458	CGA		0.473	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		5	68	0	0	0	1	0	5	68				
POM121	9883	broad.mit.edu	37	7	72413458	72413458	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr7:72413458G>A	ENST00000434423.2	+	11	2926	c.2926G>A	c.(2926-2928)Gag>Aag	p.E976K	POM121_ENST00000446813.1_Missense_Mutation_p.E711K|POM121_ENST00000358357.3_Missense_Mutation_p.E711K|POM121_ENST00000257622.4_Missense_Mutation_p.E711K|POM121_ENST00000395270.1_Missense_Mutation_p.E711K			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	976	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TGGGGCCGCTGAGGGGCAGCC	0.662																																						ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2131-2133)Gag>Aag		POM121 transmembrane nucleoporin							18.0	26.0	23.0					7																	72413458		2167	4260	6427	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413458G>A	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.2926G>A	7.37:g.72413458G>A	ENSP00000405562:p.Glu976Lys					POM121_ENST00000446813.1_Missense_Mutation_p.E711K|POM121_ENST00000257622.4_Missense_Mutation_p.E711K|POM121_ENST00000434423.2_Missense_Mutation_p.E976K|POM121_ENST00000358357.3_Missense_Mutation_p.E711K	p.E711K	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			14	3172	+		Lung NSC(55;0.163)	976			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.2131G>A		.	.	.	.	.	.	.	.	.	.	G	10.84	1.464200	0.26335	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.05925	3.37;3.39;3.37;3.39;3.6	2.33	2.33	0.28932	.	0.473088	0.15713	N	0.248330	T	0.07143	0.0181	L	0.44542	1.39	0.09310	N	1	P;B	0.47910	0.902;0.43	B;B	0.43301	0.415;0.212	T	0.30534	-0.9975	10	0.33141	T	0.24	.	10.1668	0.42886	0.0:0.0:1.0:0.0	.	711;976	A8MXF9;Q96HA1	.;P121A_HUMAN	K	711;711;711;711;976	ENSP00000393020:E711K;ENSP00000257622:E711K;ENSP00000378687:E711K;ENSP00000351124:E711K;ENSP00000405562:E976K	ENSP00000257622:E711K	E	+	1	0	POM121	72051394	0.927000	0.31430	0.097000	0.21041	0.105000	0.19272	3.714000	0.54889	1.309000	0.44985	0.173000	0.16961	GAG		0.662	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			5	117	0	0	0	1	0	5	117				
ATP8A1	10396	broad.mit.edu	37	4	42553227	42553227	+	Silent	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr4:42553227C>T	ENST00000381668.5	-	18	1821	c.1590G>A	c.(1588-1590)gtG>gtA	p.V530V	ATP8A1_ENST00000264449.10_Silent_p.V515V	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	530					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AATCTATAATCACCGAGTCGG	0.348																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(1588-1590)gtG>gtA		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						112.0	117.0	115.0					4																	42553227		2203	4300	6503	SO:0001819	synonymous_variant	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42553227C>T	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1590G>A	4.37:g.42553227C>T						ATP8A1_ENST00000264449.10_Silent_p.V515V	p.V530V	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			18	1821	-			530					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Silent	SNP	ENST00000381668.5	37	c.1590G>A	CCDS3466.1																																																																																				0.348	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		7	92	0	0	0	1	0	7	92				
PDLIM3	27295	broad.mit.edu	37	4	186446252	186446252	+	Missense_Mutation	SNP	C	C	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr4:186446252C>G	ENST00000284770.5	-	2	240	c.167G>C	c.(166-168)gGg>gCg	p.G56A	PDLIM3_ENST00000284771.6_Missense_Mutation_p.G56A|PDLIM3_ENST00000284767.5_Missense_Mutation_p.G56A	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	56	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		GGACTCTGTCCCAAAGCCGTC	0.488																																						ENST00000284767.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(166-168)gGg>gCg		PDZ and LIM domain 3							129.0	120.0	123.0					4																	186446252		2203	4300	6503	SO:0001583	missense	27295					sarcomere	zinc ion binding	g.chr4:186446252C>G	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.167G>C	4.37:g.186446252C>G	ENSP00000284770:p.Gly56Ala					PDLIM3_ENST00000284770.5_Missense_Mutation_p.G56A|PDLIM3_ENST00000284771.6_Missense_Mutation_p.G56A	p.G56A			Q53GG5	PDLI3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)	2	234	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	56			PDZ.		B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Missense_Mutation	SNP	ENST00000284770.5	37	c.167G>C	CCDS3844.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229080	0.58777	.	.	ENSG00000154553	ENST00000284770;ENST00000284771;ENST00000284767	T;T;T	0.25912	1.77;1.77;1.77	5.44	3.66	0.41972	PDZ/DHR/GLGF (4);	0.378460	0.33753	N	0.004586	T	0.09468	0.0233	N	0.00980	-1.08	0.37112	D	0.900419	B;B;B	0.18310	0.005;0.004;0.027	B;B;B	0.23150	0.015;0.006;0.044	T	0.11470	-1.0586	10	0.45353	T	0.12	-11.5822	10.9552	0.47354	0.0:0.7991:0.1305:0.0704	.	56;56;56	Q53GG5-3;Q53GG5-2;Q53GG5	.;.;PDLI3_HUMAN	A	56	ENSP00000284770:G56A;ENSP00000284771:G56A;ENSP00000284767:G56A	ENSP00000284767:G56A	G	-	2	0	PDLIM3	186683246	0.009000	0.17119	0.971000	0.41717	0.985000	0.73830	1.946000	0.40283	0.735000	0.32537	0.561000	0.74099	GGG		0.488	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	NM_014476		20	184	0	0	0	1	0	20	184				
CXCR2	3579	broad.mit.edu	37	2	219000424	219000424	+	Silent	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:219000424G>A	ENST00000318507.2	+	3	1327	c.900G>A	c.(898-900)gaG>gaA	p.E300E		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	300					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						ATGCCACCGAGATTCTGGGCA	0.567																																						ENST00000318507.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						c.(898-900)gaG>gaA		chemokine (C-X-C motif) receptor 2							85.0	81.0	82.0					2																	219000424		2203	4300	6503	SO:0001819	synonymous_variant	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:219000424G>A	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.900G>A	2.37:g.219000424G>A							p.E300E	NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN			3	1327	+			300					Q8IUZ1|Q9P2T6|Q9P2T7	Silent	SNP	ENST00000318507.2	37	c.900G>A	CCDS2408.1																																																																																				0.567	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		4	87	0	0	0	1	0	4	87				
MICAL3	57553	broad.mit.edu	37	22	18293533	18293533	+	Missense_Mutation	SNP	C	C	T	rs201337842		TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr22:18293533C>T	ENST00000441493.2	-	28	5844	c.5492G>A	c.(5491-5493)cGt>cAt	p.R1831H	XXbac-B461K10.4_ENST00000476405.1_RNA|MICAL3_ENST00000580469.1_5'UTR	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1831					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTTTTGCACACGCCGGGTCAG	0.582													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20360	0.0		0.0	False		,,,				2504	0.0					ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(5491-5493)cGt>cAt		microtubule associated monooxygenase, calponin and LIM domain containing 3		C	HIS/ARG	1,4371		0,1,2185	92.0	97.0	96.0		5492	4.8	1.0	22		96	1,8557		0,1,4278	yes	missense	MICAL3	NM_015241.2	29	0,2,6463	TT,TC,CC		0.0117,0.0229,0.0155	probably-damaging	1831/2003	18293533	2,12928	2186	4279	6465	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18293533C>T	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.5492G>A	22.37:g.18293533C>T	ENSP00000416015:p.Arg1831His					MICAL3_ENST00000580469.1_5'UTR|XXbac-B461K10.4_ENST00000476405.1_RNA	p.R1831H	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	28	5844	-		all_epithelial(15;0.198)	1831					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.5492G>A	CCDS46659.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	C|C	16.43|16.43	3.120000|3.120000	0.56613|0.56613	2.29E-4|2.29E-4	1.17E-4|1.17E-4	ENSG00000093100|ENSG00000093100	ENST00000441493|ENST00000252134	T|.	0.66280|.	-0.2|.	4.81|4.81	4.81|4.81	0.61882|0.61882	.|.	0.116245|.	0.50627|.	D|.	0.000117|.	T|T	0.58694|0.58694	0.2140|0.2140	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.78314|.	0.991|.	T|T	0.55335|0.55335	-0.8157|-0.8157	10|5	0.72032|.	D|.	0.01|.	.|.	17.8904|17.8904	0.88870|0.88870	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1831|.	Q7RTP6|.	MICA3_HUMAN|.	H|M	1831|813	ENSP00000416015:R1831H|.	ENSP00000416015:R1831H|.	R|V	-|-	2|1	0|0	XXbac-B461K10.4|XXbac-B461K10.4	16673533|16673533	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.949000|0.949000	0.60115|0.60115	7.818000|7.818000	0.86416|0.86416	2.215000|2.215000	0.71742|0.71742	0.462000|0.462000	0.41574|0.41574	CGT|GTG		0.582	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			14	129	0	0	0	1	0	14	129				
RUNDC3B	154661	broad.mit.edu	37	7	87329767	87329767	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr7:87329767C>T	ENST00000338056.3	+	4	731	c.320C>T	c.(319-321)cCt>cTt	p.P107L	RUNDC3B_ENST00000493037.1_Missense_Mutation_p.P90L|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.P90L|ABCB1_ENST00000265724.3_Intron	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	107	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TATGAAAGTCCTCGTAGCTTC	0.358																																						ENST00000338056.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26						c.(319-321)cCt>cTt		RUN domain containing 3B							78.0	76.0	77.0					7																	87329767		2203	4300	6503	SO:0001583	missense	154661							g.chr7:87329767C>T		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.320C>T	7.37:g.87329767C>T	ENSP00000337732:p.Pro107Leu					ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.P90L|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.P90L	p.P107L	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN			4	731	+	Esophageal squamous(14;0.00164)		107			RUN.		B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	ENST00000338056.3	37	c.320C>T	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799292	0.90538	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.11385	2.78;2.78;2.78	5.18	5.18	0.71444	RUN (2);	0.049142	0.85682	D	0.000000	T	0.26122	0.0637	L	0.40543	1.245	0.80722	D	1	P;P;P;D;B	0.76494	0.935;0.935;0.498;0.999;0.436	P;P;B;D;B	0.80764	0.691;0.691;0.347;0.994;0.41	T	0.00666	-1.1619	10	0.44086	T	0.13	-12.4108	18.2905	0.90129	0.0:1.0:0.0:0.0	.	90;90;12;90;107	E9PBR4;B4DFD0;Q96NL0-2;Q96NL0-4;Q96NL0	.;.;.;.;RUN3B_HUMAN	L	107;90;90	ENSP00000337732:P107L;ENSP00000420394:P90L;ENSP00000378149:P90L	ENSP00000337732:P107L	P	+	2	0	RUNDC3B	87167703	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.479000	0.81095	2.402000	0.81655	0.585000	0.79938	CCT		0.358	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290		21	65	0	0	0	1	0	21	65				
FAM114A2	10827	broad.mit.edu	37	5	153381820	153381820	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr5:153381820G>C	ENST00000351797.4	-	11	1323	c.1247C>G	c.(1246-1248)aCt>aGt	p.T416S	FAM114A2_ENST00000522858.1_Missense_Mutation_p.T416S|FAM114A2_ENST00000520313.1_Missense_Mutation_p.T346S|FAM114A2_ENST00000520667.1_Missense_Mutation_p.T416S	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	416							purine nucleotide binding (GO:0017076)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						CTGGGAAAGAGTTTGGCTCCT	0.423																																						ENST00000351797.4																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						c.(1246-1248)aCt>aGt		family with sequence similarity 114, member A2							145.0	143.0	144.0					5																	153381820		2203	4300	6503	SO:0001583	missense	10827						purine nucleotide binding	g.chr5:153381820G>C	AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 3"""	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.1247C>G	5.37:g.153381820G>C	ENSP00000341597:p.Thr416Ser					FAM114A2_ENST00000522858.1_Missense_Mutation_p.T416S|FAM114A2_ENST00000520313.1_Missense_Mutation_p.T346S|FAM114A2_ENST00000520667.1_Missense_Mutation_p.T416S	p.T416S	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN			11	1323	-			416					B2R8D8|Q9H7E0	Missense_Mutation	SNP	ENST00000351797.4	37	c.1247C>G	CCDS4323.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279973	0.40294	.	.	ENSG00000055147	ENST00000351797;ENST00000522858;ENST00000520667;ENST00000520313	T;T;T;T	0.16743	2.59;2.59;2.59;2.32	5.72	4.85	0.62838	.	0.314463	0.34652	N	0.003798	T	0.11623	0.0283	N	0.22421	0.69	0.27975	N	0.93623	B;B	0.14012	0.008;0.009	B;B	0.11329	0.006;0.005	T	0.19679	-1.0298	10	0.12766	T	0.61	-0.5858	13.7123	0.62675	0.0754:0.0:0.9246:0.0	.	346;416	E7ESJ7;Q9NRY5	.;F1142_HUMAN	S	416;416;416;346	ENSP00000341597:T416S;ENSP00000430489:T416S;ENSP00000430384:T416S;ENSP00000429088:T346S	ENSP00000341597:T416S	T	-	2	0	FAM114A2	153362013	0.718000	0.27976	0.702000	0.30337	0.912000	0.54170	1.807000	0.38902	1.416000	0.47057	0.655000	0.94253	ACT		0.423	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252455.1	NM_018691		9	106	0	0	0	1	0	9	106				
DHRS4L2	317749	broad.mit.edu	37	14	24459415	24459415	+	Silent	SNP	T	T	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr14:24459415T>C	ENST00000335125.6	+	2	279	c.153T>C	c.(151-153)cgT>cgC	p.R51R	DHRS4L2_ENST00000397071.1_Silent_p.R51R|DHRS4L2_ENST00000543805.1_5'UTR|DHRS4L2_ENST00000537912.1_Silent_p.R51R|DHRS4L2_ENST00000534993.1_5'UTR|DHRS4L2_ENST00000558753.1_Silent_p.R51R|DHRS4L2_ENST00000545240.1_Silent_p.R51R|DHRS4L2_ENST00000382755.4_Silent_p.R49R	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	49						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		TCGCCCGGCGTTTGGCCCAGG	0.637																																						ENST00000335125.6																			0				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10						c.(151-153)cgT>cgC		dehydrogenase/reductase (SDR family) member 4 like 2							51.0	55.0	54.0					14																	24459415		2200	4298	6498	SO:0001819	synonymous_variant	317749						binding|oxidoreductase activity	g.chr14:24459415T>C		CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	19731	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 3"""	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.153T>C	14.37:g.24459415T>C						DHRS4L2_ENST00000534993.1_5'UTR|DHRS4L2_ENST00000382755.4_Silent_p.R49R|DHRS4L2_ENST00000545240.1_Silent_p.R51R|DHRS4L2_ENST00000558753.1_Silent_p.R51R|DHRS4L2_ENST00000537912.1_Silent_p.R51R|DHRS4L2_ENST00000543805.1_5'UTR|DHRS4L2_ENST00000397071.1_Silent_p.R51R	p.R51R	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	2	279	+			23					Q3YLD4	Silent	SNP	ENST00000335125.6	37	c.153T>C	CCDS9606.2																																																																																				0.637	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			6	146	0	0	0	1	0	6	146				
LCE2B	26239	broad.mit.edu	37	1	152659474	152659474	+	Missense_Mutation	SNP	C	C	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr1:152659474C>G	ENST00000368780.3	+	2	209	c.155C>G	c.(154-156)tCt>tGt	p.S52C	LCE2B_ENST00000417924.2_Missense_Mutation_p.S52C	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	52	Cys-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTCCCATCTCTGGGGGCTGC	0.637																																						ENST00000368780.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11						c.(154-156)tCt>tGt		late cornified envelope 2B							120.0	133.0	129.0					1																	152659474		2203	4300	6503	SO:0001583	missense	26239				keratinization			g.chr1:152659474C>G	BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"""Late cornified envelopes"""	16610	protein-coding gene	gene with protein product		612610	"""small proline rich-like (epidermal differentiation complex) 1B"""	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.155C>G	1.37:g.152659474C>G	ENSP00000357769:p.Ser52Cys					LCE2B_ENST00000417924.2_Missense_Mutation_p.S52C	p.S52C	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	209	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		52			Cys-rich.		Q5TA80	Missense_Mutation	SNP	ENST00000368780.3	37	c.155C>G	CCDS1020.1	.	.	.	.	.	.	.	.	.	.	C	0.890	-0.725706	0.03158	.	.	ENSG00000159455	ENST00000417924;ENST00000368780	T;T	0.05925	3.37;3.37	2.26	2.26	0.28386	.	.	.	.	.	T	0.11281	0.0275	M	0.77313	2.365	0.22989	N	0.998467	D	0.71674	0.998	D	0.69824	0.966	T	0.05801	-1.0863	9	0.87932	D	0	.	7.6437	0.28309	0.0:1.0:0.0:0.0	.	52	O14633	LCE2B_HUMAN	C	52	ENSP00000414043:S52C;ENSP00000357769:S52C	ENSP00000357769:S52C	S	+	2	0	LCE2B	150926098	0.481000	0.25941	0.978000	0.43139	0.035000	0.12851	2.826000	0.48104	1.082000	0.41137	0.313000	0.20887	TCT		0.637	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034524.1	NM_014357		18	292	0	0	0	1	0	18	292				
DHRS9	10170	broad.mit.edu	37	2	169952147	169952147	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:169952147C>T	ENST00000327239.4	+	8	2334	c.830C>T	c.(829-831)cCt>cTt	p.P277L	DHRS9_ENST00000436483.2_Missense_Mutation_p.P277L|DHRS9_ENST00000421653.1_Missense_Mutation_p.P130L|DHRS9_ENST00000357546.2_Missense_Mutation_p.P277L|DHRS9_ENST00000602501.1_Missense_Mutation_p.P277L|DHRS9_ENST00000432060.2_Missense_Mutation_p.P337L|DHRS9_ENST00000428522.1_Missense_Mutation_p.P277L|DHRS9_ENST00000412271.1_Missense_Mutation_p.P277L	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	277					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AGTCTCTTCCCTAAGACTCAT	0.423																																						ENST00000327239.4																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(829-831)cCt>cTt		dehydrogenase/reductase (SDR family) member 9							135.0	130.0	132.0					2																	169952147		2203	4300	6503	SO:0001583	missense	10170				9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity	g.chr2:169952147C>T	AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	16888	protein-coding gene	gene with protein product	"""NADP-dependent retinol dehydrogenase/reductase"", ""3-alpha hydroxysteroid dehydrogenase"", ""retinol dehydrogenase homolog"", ""short chain dehydrogenase/reductase family 9C, member 4"""	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.830C>T	2.37:g.169952147C>T	ENSP00000316670:p.Pro277Leu					DHRS9_ENST00000602501.1_Missense_Mutation_p.P277L|DHRS9_ENST00000357546.2_Missense_Mutation_p.P277L|DHRS9_ENST00000428522.1_Missense_Mutation_p.P277L|DHRS9_ENST00000421653.1_Missense_Mutation_p.P130L|DHRS9_ENST00000436483.2_Missense_Mutation_p.P277L|DHRS9_ENST00000432060.2_Missense_Mutation_p.P337L|DHRS9_ENST00000412271.1_Missense_Mutation_p.P277L	p.P277L	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN			8	2334	+			277					B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Missense_Mutation	SNP	ENST00000327239.4	37	c.830C>T	CCDS2231.1	.	.	.	.	.	.	.	.	.	.	C	32	5.140788	0.94560	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000421653;ENST00000436483;ENST00000412271	D;D;D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08	5.93	5.93	0.95920	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97464	0.9170	H	0.94542	3.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.97868	1.0284	10	0.87932	D	0	.	19.936	0.97142	0.0:1.0:0.0:0.0	.	337;277	B7Z416;Q9BPW9	.;DHRS9_HUMAN	L	277;277;337;277;130;277;277	ENSP00000316670:P277L;ENSP00000350154:P277L;ENSP00000389241:P337L;ENSP00000388564:P277L;ENSP00000388066:P130L;ENSP00000407167:P277L;ENSP00000407747:P277L	ENSP00000316670:P277L	P	+	2	0	DHRS9	169660393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.581000	0.67471	2.814000	0.96858	0.655000	0.94253	CCT		0.423	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3	NM_005771		9	228	0	0	0	1	0	9	228				
NPR3	4883	broad.mit.edu	37	5	32712495	32712495	+	Missense_Mutation	SNP	A	A	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr5:32712495A>C	ENST00000265074.8	+	1	956	c.613A>C	c.(613-615)Agc>Cgc	p.S205R	NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415685.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.S205R	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	205					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	ACTGGTCTACAGCGACGACAA	0.637																																						ENST00000265074.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(613-615)Agc>Cgc		natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	Nesiritide(DB04899)						46.0	53.0	51.0					5																	32712495		2085	4207	6292	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32712495A>C		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.613A>C	5.37:g.32712495A>C	ENSP00000265074:p.Ser205Arg					NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.S205R|NPR3_ENST00000415685.2_Intron	p.S205R	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN			1	956	+			205					A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.613A>C	CCDS56357.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.88|12.88	2.070209|2.070209	0.36566|0.36566	.|.	.|.	ENSG00000113389|ENSG00000113389	ENST00000507141|ENST00000265074;ENST00000415167	.|D;D	.|0.84070	.|-1.8;-1.8	4.89|4.89	4.89|4.89	0.63831|0.63831	.|Extracellular ligand-binding receptor (1);	.|0.240652	.|0.49916	.|D	.|0.000123	T|T	0.81254|0.81254	0.4784|0.4784	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|D;D	.|0.53151	.|0.958;0.958	.|P;P	.|0.52598	.|0.703;0.594	T|T	0.78001|0.78001	-0.2375|-0.2375	5|10	.|0.23891	.|T	.|0.37	-12.9124|-12.9124	11.3629|11.3629	0.49655|0.49655	0.8485:0.1515:0.0:0.0|0.8485:0.1515:0.0:0.0	.|.	.|205;205	.|P17342;Q60I31	.|ANPRC_HUMAN;.	P|R	20|205	.|ENSP00000265074:S205R;ENSP00000398028:S205R	.|ENSP00000265074:S205R	Q|S	+|+	2|1	0|0	NPR3|NPR3	32748252|32748252	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.921000|0.921000	0.55340|0.55340	3.147000|3.147000	0.50639|0.50639	2.063000|2.063000	0.61619|0.61619	0.459000|0.459000	0.35465|0.35465	CAG|AGC		0.637	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		18	131	0	0	0	1	0	18	131				
DYNC2H1	79659	broad.mit.edu	37	11	103058262	103058262	+	Silent	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr11:103058262C>T	ENST00000375735.2	+	43	7231	c.7087C>T	c.(7087-7089)Cta>Tta	p.L2363L	DYNC2H1_ENST00000398093.3_Silent_p.L2363L|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2363	AAA 3. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGATATCAACCTACCTAAACT	0.363																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(7087-7089)Cta>Tta		dynein, cytoplasmic 2, heavy chain 1							108.0	103.0	104.0					11																	103058262		1863	4095	5958	SO:0001819	synonymous_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103058262C>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.7087C>T	11.37:g.103058262C>T						DYNC2H1_ENST00000398093.3_Silent_p.L2363L|DYNC2H1_ENST00000334267.7_Intron	p.L2363L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	43	7231	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	2363			AAA 3 (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	c.7087C>T	CCDS53701.1																																																																																				0.363	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		34	62	0	0	0	1	0	34	62				
ZCCHC6	79670	broad.mit.edu	37	9	88919847	88919847	+	Missense_Mutation	SNP	A	A	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr9:88919847A>C	ENST00000375963.3	-	24	4074	c.3902T>G	c.(3901-3903)aTg>aGg	p.M1301R	ZCCHC6_ENST00000375957.1_Missense_Mutation_p.M201R|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.M1263R|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.M1065R|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.M590R	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1301					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AAAAGCCTTCATTATAAAATT	0.368																																						ENST00000277141.6																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(1768-1770)aTg>aGg		zinc finger, CCHC domain containing 6							34.0	35.0	34.0					9																	88919847		2201	4299	6500	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88919847A>C	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.3902T>G	9.37:g.88919847A>C	ENSP00000365130:p.Met1301Arg					ZCCHC6_ENST00000375960.2_Missense_Mutation_p.M1065R|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.M1263R|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.M201R|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.M1301R	p.M590R			Q5VYS8	TUT7_HUMAN			25	4193	-			1301			PAP-associated 1.		Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.1769T>G	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	A	18.41	3.617310	0.66672	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375957;ENST00000375963	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.60117	0.2244	L	0.47716	1.5	0.58432	D	0.999999	D;P;B	0.58970	0.984;0.72;0.034	D;P;B	0.71656	0.974;0.698;0.141	T	0.55860	-0.8074	10	0.30078	T	0.28	-4.9491	15.0882	0.72170	1.0:0.0:0.0:0.0	.	1263;1065;1301	Q5VYS8-6;Q5VYS8-4;Q5VYS8	.;.;TUT7_HUMAN	R	590;1065;1263;201;1301	ENSP00000277141:M590R;ENSP00000365127:M1065R;ENSP00000365128:M1263R;ENSP00000365124:M201R;ENSP00000365130:M1301R	ENSP00000277141:M590R	M	-	2	0	ZCCHC6	88109667	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.448000	0.90335	2.205000	0.71048	0.533000	0.62120	ATG		0.368	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		6	56	0	0	0	1	0	6	56				
SYT10	341359	broad.mit.edu	37	12	33529823	33529823	+	Missense_Mutation	SNP	G	G	A	rs34361405	byFrequency	TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr12:33529823G>A	ENST00000228567.3	-	7	1810	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	SYT10_ENST00000535526.1_Missense_Mutation_p.A324V	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	505			A -> V (in dbSNP:rs34361405).		regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.A505V(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					AAAACTGGTCGCCCGGCCAGG	0.398													G|||	30	0.00599042	0.0204	0.0043	5008	,	,		16850	0.0		0.0	False		,,,				2504	0.0					ENST00000228567.3																			1	Substitution - Missense(1)	p.A505V(1)	prostate(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42						c.(1513-1515)gCg>gTg		synaptotagmin X		G	VAL/ALA	32,4374	38.4+/-70.7	0,32,2171	109.0	107.0	107.0		1514	4.8	1.0	12	dbSNP_126	107	3,8597	3.0+/-9.4	0,3,4297	yes	missense	SYT10	NM_198992.3	64	0,35,6468	AA,AG,GG		0.0349,0.7263,0.2691	possibly-damaging	505/524	33529823	35,12971	2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33529823G>A	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1514C>T	12.37:g.33529823G>A	ENSP00000228567:p.Ala505Val					SYT10_ENST00000535526.1_Missense_Mutation_p.A324V	p.A505V	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN			7	1810	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		505		A -> V (in dbSNP:rs34361405).			Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.1514C>T	CCDS8732.1	12	0.005494505494505495	10	0.02032520325203252	2	0.0055248618784530384	0	0.0	0	0.0	G	26.6	4.757384	0.89843	0.007263	3.49E-4	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.51817	0.78;0.69	4.83	4.83	0.62350	.	0.000000	0.41097	U	0.000944	T	0.19604	0.0471	L	0.31294	0.92	0.80722	D	1	B	0.34226	0.443	B	0.25291	0.059	T	0.06391	-1.0829	10	0.22109	T	0.4	.	17.8053	0.88600	0.0:0.0:1.0:0.0	rs34361405	505	Q6XYQ8	SYT10_HUMAN	V	505;324	ENSP00000228567:A505V;ENSP00000438691:A324V	ENSP00000228567:A505V	A	-	2	0	SYT10	33421090	1.000000	0.71417	0.959000	0.39883	0.996000	0.88848	9.042000	0.93793	2.596000	0.87737	0.655000	0.94253	GCG		0.398	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		5	43	0	0	0	1	0	5	43				
PRMT3	10196	broad.mit.edu	37	11	20424503	20424503	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr11:20424503C>A	ENST00000331079.6	+	8	961	c.744C>A	c.(742-744)taC>taA	p.Y248*	PRMT3_ENST00000437750.2_Nonsense_Mutation_p.Y186*	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	248	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						ATTTCATATACCAAAATCCAC	0.353																																						ENST00000331079.6																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						c.(742-744)taC>taA		protein arginine methyltransferase 3							147.0	153.0	151.0					11																	20424503		2203	4300	6503	SO:0001587	stop_gained	10196						zinc ion binding	g.chr11:20424503C>A	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"""Protein arginine methyltransferases"""	30163	protein-coding gene	gene with protein product		603190	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"""	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.744C>A	11.37:g.20424503C>A	ENSP00000331879:p.Tyr248*					PRMT3_ENST00000437750.2_Nonsense_Mutation_p.Y186*	p.Y248*	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN			8	961	+			248					B4DUC7	Nonsense_Mutation	SNP	ENST00000331079.6	37	c.744C>A	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	C	36	5.773906	0.96922	.	.	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	.	.	.	5.55	3.68	0.42216	.	0.113904	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0988	6.0185	0.19616	0.0:0.6994:0.0:0.3006	.	.	.	.	X	248;248;186	.	ENSP00000331879:Y248X	Y	+	3	2	PRMT3	20381079	0.967000	0.33354	1.000000	0.80357	0.985000	0.73830	0.245000	0.18142	1.351000	0.45789	0.585000	0.79938	TAC		0.353	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		30	64	1	0	5.8336e-16	1	6.64455e-16	30	64				
ADTRP	84830	broad.mit.edu	37	6	11723676	11723676	+	Silent	SNP	G	G	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr6:11723676G>C	ENST00000414691.3	-	5	974	c.564C>G	c.(562-564)ctC>ctG	p.L188L	ADTRP_ENST00000379413.2_Silent_p.L188L|ADTRP_ENST00000229583.5_Silent_p.L206L|ADTRP_ENST00000514824.1_5'UTR	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CCAAGAGGCTGAGTTTGGCAA	0.498																																						ENST00000414691.3																			0											c.(562-564)ctC>ctG		androgen-dependent TFPI-regulating protein							212.0	211.0	212.0					6																	11723676		2203	4300	6503	SO:0001819	synonymous_variant	84830					integral to membrane		g.chr6:11723676G>C	AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"""androgen-induced 1-like"""	614348	"""chromosome 6 open reading frame 105"""	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.564C>G	6.37:g.11723676G>C						ADTRP_ENST00000229583.5_Silent_p.L206L|ADTRP_ENST00000514824.1_5'UTR|ADTRP_ENST00000379413.2_Silent_p.L188L	p.L188L	NM_032744.3	NP_116133.1	Q96IZ2	CF105_HUMAN			5	974	-			188					B2R7T9|B4DV39|Q5THW1	Silent	SNP	ENST00000414691.3	37	c.564C>G	CCDS4521.1																																																																																				0.498	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039864.3	NM_032744		15	466	0	0	0	1	0	15	466				
ZNF746	155061	broad.mit.edu	37	7	149171598	149171598	+	Silent	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr7:149171598C>T	ENST00000340622.3	-	7	2092	c.1812G>A	c.(1810-1812)ccG>ccA	p.P604P	ZNF746_ENST00000458143.2_Silent_p.P605P			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	604					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAGGTGCGGGCGGCGTCGGGA	0.667																																						ENST00000340622.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1810-1812)ccG>ccA		zinc finger protein 746							31.0	30.0	30.0					7																	149171598		2198	4296	6494	SO:0001819	synonymous_variant	155061				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr7:149171598C>T	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.1812G>A	7.37:g.149171598C>T						ZNF746_ENST00000458143.2_Silent_p.P605P	p.P604P			Q6NUN9	ZN746_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		7	2092	-	Melanoma(164;0.165)		604					A8K6Z9|Q6ZRF9	Silent	SNP	ENST00000340622.3	37	c.1812G>A	CCDS5897.1																																																																																				0.667	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557		4	11	0	0	0	1	0	4	11				
TTPA	7274	broad.mit.edu	37	8	63978585	63978585	+	Missense_Mutation	SNP	C	C	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr8:63978585C>A	ENST00000260116.4	-	3	461	c.430G>T	c.(430-432)Gta>Tta	p.V144L	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	144	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	ACCTCCTGTACAATAAGCTCG	0.393																																						ENST00000260116.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15						c.(430-432)Gta>Tta		tocopherol (alpha) transfer protein	Vitamin E(DB00163)						102.0	90.0	94.0					8																	63978585		2203	4300	6503	SO:0001583	missense	7274				lipid metabolic process		transporter activity|vitamin E binding	g.chr8:63978585C>A	BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"""ataxia (Friedreich-like) with vitamin E deficiency"""	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.430G>T	8.37:g.63978585C>A	ENSP00000260116:p.Val144Leu					TTPA_ENST00000521138.1_Intron	p.V144L	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN			3	461	-	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)	144			CRAL-TRIO.		Q71V64	Missense_Mutation	SNP	ENST00000260116.4	37	c.430G>T	CCDS6178.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.175473	0.57692	.	.	ENSG00000137561	ENST00000260116	T	0.73047	-0.71	5.54	5.54	0.83059	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.117397	0.56097	D	0.000022	T	0.54431	0.1858	N	0.13198	0.31	0.49213	D	0.99976	B	0.18863	0.031	B	0.21917	0.037	T	0.53387	-0.8446	10	0.06365	T	0.9	.	19.4812	0.95011	0.0:1.0:0.0:0.0	.	144	P49638	TTPA_HUMAN	L	144	ENSP00000260116:V144L	ENSP00000260116:V144L	V	-	1	0	TTPA	64141139	1.000000	0.71417	0.999000	0.59377	0.871000	0.50021	5.546000	0.67243	2.600000	0.87896	0.655000	0.94253	GTA		0.393	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378460.1	NM_000370		8	102	1	0	0.000157383	1	0.000165187	8	102				
NT5E	4907	broad.mit.edu	37	6	86197162	86197162	+	Silent	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr6:86197162C>T	ENST00000257770.3	+	5	1108	c.1059C>T	c.(1057-1059)tgC>tgT	p.C353C	NT5E_ENST00000369651.3_Silent_p.C353C	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	353					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	CTCAATCATGCCGCTTTAGAG	0.413																																					Melanoma(140;797 1765 2035 2752 18208)	ENST00000257770.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1057-1059)tgC>tgT		5'-nucleotidase, ecto (CD73)	Pentoxifylline(DB00806)						163.0	155.0	158.0					6																	86197162		2203	4300	6503	SO:0001819	synonymous_variant	4907				DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	g.chr6:86197162C>T	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"""CD molecules"""	8021	protein-coding gene	gene with protein product		129190	"""5' nucleotidase (CD73)"""	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.1059C>T	6.37:g.86197162C>T						NT5E_ENST00000369651.3_Silent_p.C353C	p.C353C	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)	5	1108	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	353					B3KQI8|O75520|Q5W116	Silent	SNP	ENST00000257770.3	37	c.1059C>T	CCDS5002.1	.	.	.	.	.	.	.	.	.	.	C	4.556	0.103180	0.08731	.	.	ENSG00000135318	ENST00000416334;ENST00000437581	.	.	.	5.48	4.61	0.57282	.	.	.	.	.	T	0.60183	0.2249	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61451	-0.7060	4	.	.	.	-11.8388	14.096	0.65021	0.0:0.9277:0.0:0.0723	.	.	.	.	V	118;49	.	.	A	+	2	0	NT5E	86253881	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	2.258000	0.43249	1.318000	0.45170	0.557000	0.71058	GCC		0.413	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1			5	144	0	0	0	1	0	5	144				
PDYN	5173	broad.mit.edu	37	20	1963676	1963676	+	Missense_Mutation	SNP	T	T	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr20:1963676T>C	ENST00000217305.2	-	3	280	c.55A>G	c.(55-57)Aca>Gca	p.T19A	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.T19A|PDYN_ENST00000539905.1_Missense_Mutation_p.T19A	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	19					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGTCCGCTGTGGTGGAGGGG	0.562																																						ENST00000217305.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(55-57)Aca>Gca		prodynorphin							64.0	58.0	60.0					20																	1963676		2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1963676T>C		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.55A>G	20.37:g.1963676T>C	ENSP00000217305:p.Thr19Ala					PDYN_ENST00000540134.1_Missense_Mutation_p.T19A|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.T19A	p.T19A	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN			3	280	-			19					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.55A>G	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	T	4.320	0.058777	0.08339	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	T;T;T	0.79749	-1.3;-1.3;-1.3	4.79	-9.04	0.00734	.	1.105840	0.06696	N	0.770493	T	0.55114	0.1900	N	0.13043	0.29	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39231	-0.9624	10	0.16420	T	0.52	0.7088	4.9551	0.14035	0.4851:0.3058:0.0:0.2091	.	19	P01213	PDYN_HUMAN	A	19	ENSP00000440185:T19A;ENSP00000442259:T19A;ENSP00000217305:T19A	ENSP00000217305:T19A	T	-	1	0	PDYN	1911676	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.032000	0.03574	-1.409000	0.02038	-1.559000	0.00887	ACA		0.562	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			13	45	0	0	0	1	0	13	45				
WDFY3	23001	broad.mit.edu	37	4	85748079	85748079	+	Silent	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr4:85748079G>A	ENST00000295888.4	-	10	1419	c.1012C>T	c.(1012-1014)Ctg>Ttg	p.L338L	WDFY3_ENST00000322366.6_Silent_p.L338L	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	338					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GAAGTTATCAGATTAACCAGA	0.388																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(1012-1014)Ctg>Ttg		WD repeat and FYVE domain containing 3							130.0	120.0	123.0					4																	85748079		2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85748079G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1012C>T	4.37:g.85748079G>A						WDFY3_ENST00000295888.4_Silent_p.L338L	p.L338L			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	10	1419	-		Hepatocellular(203;0.114)	338					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.1012C>T	CCDS3609.1																																																																																				0.388	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		6	178	0	0	0	1	0	6	178				
TTLL7	79739	broad.mit.edu	37	1	84387020	84387020	+	Silent	SNP	G	G	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr1:84387020G>C	ENST00000260505.8	-	11	1577	c.1200C>G	c.(1198-1200)ctC>ctG	p.L400L	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	400					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TTTGACCATAGAGCCTCCTTT	0.418																																						ENST00000260505.8																			0				kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1198-1200)ctC>ctG		tubulin tyrosine ligase-like family, member 7							90.0	90.0	90.0					1																	84387020		2203	4299	6502	SO:0001819	synonymous_variant	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84387020G>C	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.1200C>G	1.37:g.84387020G>C						TTLL7_ENST00000477524.1_5'UTR	p.L400L	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	11	1577	-			400					Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Silent	SNP	ENST00000260505.8	37	c.1200C>G	CCDS690.2																																																																																				0.418	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		10	138	0	0	0	1	0	10	138				
KCTD8	386617	broad.mit.edu	37	4	44449606	44449606	+	Missense_Mutation	SNP	C	C	T	rs372138598		TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr4:44449606C>T	ENST00000360029.3	-	1	1218	c.935G>A	c.(934-936)aGc>aAc	p.S312N	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	312					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GGTGTAGCTGCTCCAGATCTT	0.642										HNSCC(17;0.042)																												ENST00000360029.3																			0				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						c.(934-936)aGc>aAc		potassium channel tetramerization domain containing 8		C	ASN/SER	0,4406		0,0,2203	25.0	23.0	24.0		935	4.3	1.0	4		24	1,8595		0,1,4297	no	missense	KCTD8	NM_198353.2	46	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	312/474	44449606	1,13001	2203	4298	6501	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44449606C>T	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.935G>A	4.37:g.44449606C>T	ENSP00000353129:p.Ser312Asn	HNSCC(17;0.042)					p.S312N	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN			1	1218	-			312					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.935G>A	CCDS3467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.170314|4.170314	0.78452|0.78452	0.0|0.0	1.16E-4|1.16E-4	ENSG00000183783|ENSG00000183783	ENST00000515268|ENST00000360029	.|T	.|0.37411	.|1.2	4.27|4.27	4.27|4.27	0.50696|0.50696	.|.	.|0.055515	.|0.64402	.|D	.|0.000001	T|T	0.38214|0.38214	0.1032|0.1032	N|N	0.16602|0.16602	0.42|0.42	0.40502|0.40502	D|D	0.980653|0.980653	.|D	.|0.55605	.|0.972	.|P	.|0.57911	.|0.829	T|T	0.25813|0.25813	-1.0121|-1.0121	5|10	.|0.33141	.|T	.|0.24	.|.	15.8688|15.8688	0.79091|0.79091	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|312	.|Q6ZWB6	.|KCTD8_HUMAN	T|N	9|312	.|ENSP00000353129:S312N	.|ENSP00000353129:S312N	A|S	-|-	1|2	0|0	KCTD8|KCTD8	44144363|44144363	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	3.068000|3.068000	0.50018|0.50018	2.214000|2.214000	0.71695|0.71695	0.591000|0.591000	0.81541|0.81541	GCA|AGC		0.642	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			10	27	0	0	0	1	0	10	27				
PLEKHG1	57480	broad.mit.edu	37	6	151152587	151152587	+	Silent	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr6:151152587C>T	ENST00000358517.2	+	15	2551	c.2340C>T	c.(2338-2340)agC>agT	p.S780S	PLEKHG1_ENST00000367328.1_Silent_p.S780S			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	780							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GCTGTGACAGCCTGAGGCCAT	0.552																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(2338-2340)agC>agT		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							92.0	84.0	87.0					6																	151152587		2203	4300	6503	SO:0001819	synonymous_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151152587C>T	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.2340C>T	6.37:g.151152587C>T						PLEKHG1_ENST00000358517.2_Silent_p.S780S	p.S780S	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	16	2652	+			780					Q5T1F2	Silent	SNP	ENST00000358517.2	37	c.2340C>T	CCDS34552.1																																																																																				0.552	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			13	42	0	0	0	1	0	13	42				
CFAP45	25790	broad.mit.edu	37	1	159842768	159842768	+	Missense_Mutation	SNP	C	C	T	rs200089318		TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr1:159842768C>T	ENST00000368099.4	-	11	1607	c.1543G>A	c.(1543-1545)Gat>Aat	p.D515N	RP11-190A12.7_ENST00000544342.1_Missense_Mutation_p.D13N|CCDC19_ENST00000426543.2_Missense_Mutation_p.D430N|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TTGATCTCATCGATGCGCTCA	0.577																																						ENST00000426543.2																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26						c.(1288-1290)Gat>Aat		coiled-coil domain containing 19		C	ASN/ASP	0,4406		0,0,2203	89.0	86.0	87.0		1543	1.6	0.0	1		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC19	NM_012337.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	515/552	159842768	1,13005	2203	4300	6503	SO:0001583	missense	25790					mitochondrion|soluble fraction		g.chr1:159842768C>T																												ENST00000368099.4:c.1543G>A	1.37:g.159842768C>T	ENSP00000357079:p.Asp515Asn					RP11-190A12.7_ENST00000544342.1_Missense_Mutation_p.D13N|CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.D515N	p.D430N			Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		11	1743	-	all_hematologic(112;0.0597)		515						Missense_Mutation	SNP	ENST00000368099.4	37	c.1288G>A	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.261884	0.23051	0.0	1.16E-4	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.09723	2.95;2.95	4.99	1.57	0.23409	.	0.594732	0.17909	N	0.157926	T	0.01254	0.0041	N	0.05031	-0.125	0.24354	N	0.994901	B	0.06786	0.001	B	0.08055	0.003	T	0.48833	-0.9000	9	.	.	.	-0.5312	7.4837	0.27419	0.0:0.6556:0.0:0.3444	.	515	Q9UL16	CCD19_HUMAN	N	515;430	ENSP00000357079:D515N;ENSP00000403044:D430N	.	D	-	1	0	CCDC19	158109392	0.001000	0.12720	0.038000	0.18304	0.524000	0.34500	0.588000	0.23924	0.619000	0.30197	0.655000	0.94253	GAT		0.577	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			44	67	0	0	0	1	0	44	67				
CDH4	1002	broad.mit.edu	37	20	60470074	60470074	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr20:60470074G>A	ENST00000360469.5	+	8	1247	c.1159G>A	c.(1159-1161)Gac>Aac	p.D387N	CDH4_ENST00000543233.1_Missense_Mutation_p.D313N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	387	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGATGTGAATGACAACCCGCC	0.567																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(1159-1161)Gac>Aac		cadherin 4, type 1, R-cadherin (retinal)							216.0	172.0	187.0					20																	60470074		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60470074G>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1159G>A	20.37:g.60470074G>A	ENSP00000353656:p.Asp387Asn					CDH4_ENST00000543233.1_Missense_Mutation_p.D313N	p.D387N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		8	1247	+			387			Cadherin 2.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.1159G>A	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024511	0.93518	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.64085	-0.08;-0.08	4.6	4.6	0.57074	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.79167	0.4400	M	0.88842	2.985	0.80722	D	1	D	0.61697	0.99	P	0.56514	0.8	D	0.84148	0.0421	9	.	.	.	.	17.3945	0.87441	0.0:0.0:1.0:0.0	.	387	P55283	CADH4_HUMAN	N	387;295;313	ENSP00000353656:D387N;ENSP00000443301:D313N	.	D	+	1	0	CDH4	59903469	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	9.090000	0.94144	2.108000	0.64289	0.585000	0.79938	GAC		0.567	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		19	171	0	0	0	1	0	19	171				
ZNF319	57567	broad.mit.edu	37	16	58030938	58030938	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr16:58030938G>A	ENST00000299237.2	-	2	1854	c.1232C>T	c.(1231-1233)tCt>tTt	p.S411F	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	411					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CAGCTCGGCAGATTGGTCAAA	0.652																																						ENST00000299237.2																			0				large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						c.(1231-1233)tCt>tTt		zinc finger protein 319							48.0	49.0	49.0					16																	58030938		2198	4300	6498	SO:0001583	missense	57567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58030938G>A	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.1232C>T	16.37:g.58030938G>A	ENSP00000299237:p.Ser411Phe						p.S411F	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN			2	1854	-			411					Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	c.1232C>T	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.394462	0.25205	.	.	ENSG00000166188	ENST00000299237	T	0.61392	0.11	5.21	4.24	0.50183	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.71013	0.3290	M	0.63843	1.955	0.51767	D	0.999933	D	0.89917	1.0	D	0.75484	0.986	T	0.68815	-0.5309	10	0.29301	T	0.29	-12.2396	14.162	0.65452	0.0:0.0:0.8489:0.151	.	411	Q9P2F9	ZN319_HUMAN	F	411	ENSP00000299237:S411F	ENSP00000299237:S411F	S	-	2	0	ZNF319	56588439	1.000000	0.71417	0.999000	0.59377	0.001000	0.01503	7.853000	0.86934	1.168000	0.42723	-0.181000	0.13052	TCT		0.652	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			12	71	0	0	0	1	0	12	71				
ZBTB37	84614	broad.mit.edu	37	1	173840134	173840134	+	Silent	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr1:173840134G>A	ENST00000367701.5	+	2	962	c.771G>A	c.(769-771)gaG>gaA	p.E257E	ZBTB37_ENST00000367704.1_Silent_p.E257E|ZBTB37_ENST00000367702.1_Silent_p.E257E|ZBTB37_ENST00000432989.1_Silent_p.E257E|ZBTB37_ENST00000427304.1_Silent_p.E257E			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	257					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						TTGGGCCTGAGAATCAGCCTT	0.493																																						ENST00000367704.1																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						c.(769-771)gaG>gaA		zinc finger and BTB domain containing 37							75.0	77.0	76.0					1																	173840134		2203	4300	6503	SO:0001819	synonymous_variant	84614				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:173840134G>A	AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.771G>A	1.37:g.173840134G>A						ZBTB37_ENST00000367701.4_Silent_p.E257E|ZBTB37_ENST00000427304.1_Silent_p.E257E|ZBTB37_ENST00000432989.1_Silent_p.E257E|ZBTB37_ENST00000367702.1_Silent_p.E257E	p.E257E			Q5TC79	ZBT37_HUMAN			3	1170	+			257					Q5TC80|Q96M87|Q9BQ88	Silent	SNP	ENST00000367701.5	37	c.771G>A	CCDS44278.1																																																																																				0.493	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2	NM_032522		10	63	0	0	0	1	0	10	63				
CCDC96	257236	broad.mit.edu	37	4	7043387	7043387	+	Missense_Mutation	SNP	C	C	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr4:7043387C>G	ENST00000310085.4	-	1	1341	c.1279G>C	c.(1279-1281)Gag>Cag	p.E427Q	TADA2B_ENST00000512388.1_5'Flank|TADA2B_ENST00000310074.7_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	427										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						AAAAGTTCCTCATTTCGTTCC	0.458																																						ENST00000310085.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						c.(1279-1281)Gag>Cag		coiled-coil domain containing 96							295.0	288.0	291.0					4																	7043387		2203	4300	6503	SO:0001583	missense	257236							g.chr4:7043387C>G	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.1279G>C	4.37:g.7043387C>G	ENSP00000309285:p.Glu427Gln					RP11-367J11.2_ENST00000500031.1_RNA	p.E427Q	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN			1	1341	-			427					Q8N2I7	Missense_Mutation	SNP	ENST00000310085.4	37	c.1279G>C	CCDS3395.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442441	0.63067	.	.	ENSG00000173013	ENST00000310085	T	0.56103	0.48	3.98	3.98	0.46160	.	0.000000	0.64402	D	0.000008	T	0.67439	0.2893	M	0.62088	1.915	0.33663	D	0.609926	D	0.89917	1.0	D	0.91635	0.999	T	0.72164	-0.4373	10	0.21540	T	0.41	-22.6517	15.8476	0.78903	0.0:1.0:0.0:0.0	.	427	Q2M329	CCD96_HUMAN	Q	427	ENSP00000309285:E427Q	ENSP00000309285:E427Q	E	-	1	0	CCDC96	7094288	0.998000	0.40836	0.986000	0.45419	0.994000	0.84299	4.627000	0.61276	2.068000	0.61886	0.462000	0.41574	GAG		0.458	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376		42	225	0	0	0	1	0	42	225				
DPYSL5	56896	broad.mit.edu	37	2	27121556	27121556	+	Missense_Mutation	SNP	C	C	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:27121556C>G	ENST00000288699.6	+	2	347	c.189C>G	c.(187-189)atC>atG	p.I63M	DPYSL5_ENST00000401478.1_Missense_Mutation_p.I63M	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	63					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGTGGCATCGACACCAGCA	0.572																																						ENST00000288699.6																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(187-189)atC>atG		dihydropyrimidinase-like 5							97.0	85.0	89.0					2																	27121556		2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27121556C>G	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.189C>G	2.37:g.27121556C>G	ENSP00000288699:p.Ile63Met					DPYSL5_ENST00000401478.1_Missense_Mutation_p.I63M	p.I63M	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN			2	347	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		63					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.189C>G	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	C	8.080	0.772230	0.16051	.	.	ENSG00000157851	ENST00000450961;ENST00000288699;ENST00000401478;ENST00000431402;ENST00000434719	D;D;D;D;D	0.95656	-1.85;-3.77;-3.77;-1.89;-1.86	4.85	-9.7	0.00521	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.97517	0.9187	H	0.96604	3.85	0.23589	N	0.997341	D	0.89917	1.0	D	0.87578	0.998	D	0.94808	0.7976	10	0.87932	D	0	-20.1982	10.4476	0.44503	0.2137:0.5731:0.0:0.2132	.	63	Q9BPU6	DPYL5_HUMAN	M	63	ENSP00000407174:I63M;ENSP00000288699:I63M;ENSP00000385549:I63M;ENSP00000399581:I63M;ENSP00000413075:I63M	ENSP00000288699:I63M	I	+	3	3	DPYSL5	26975060	0.000000	0.05858	0.343000	0.25615	0.293000	0.27360	-3.661000	0.00400	-2.953000	0.00292	-2.566000	0.00172	ATC		0.572	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		12	44	0	0	0	1	0	12	44				
TLR10	81793	broad.mit.edu	37	4	38776793	38776793	+	Missense_Mutation	SNP	T	T	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr4:38776793T>C	ENST00000308973.4	-	4	1024	c.419A>G	c.(418-420)aAc>aGc	p.N140S	TLR10_ENST00000506111.1_Missense_Mutation_p.N140S|TLR10_ENST00000508334.1_Missense_Mutation_p.N140S|TLR10_ENST00000361424.2_Missense_Mutation_p.N140S|TLR10_ENST00000507953.1_5'Flank	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	140					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GTGTGACATGTTGCCAGCTTC	0.393																																						ENST00000308973.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						c.(418-420)aAc>aGc		toll-like receptor 10							63.0	64.0	64.0					4																	38776793		2203	4300	6503	SO:0001583	missense	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38776793T>C	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.419A>G	4.37:g.38776793T>C	ENSP00000308925:p.Asn140Ser					TLR10_ENST00000361424.2_Missense_Mutation_p.N140S|TLR10_ENST00000506111.1_Missense_Mutation_p.N140S|TLR10_ENST00000508334.1_Missense_Mutation_p.N140S	p.N140S	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN			4	1024	-			140					A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	c.419A>G	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	T	5.837	0.338596	0.11069	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	5.23	1.51	0.23008	.	0.672928	0.13257	N	0.401565	T	0.22742	0.0549	M	0.66939	2.045	0.09310	N	1	B	0.17667	0.023	B	0.19148	0.024	T	0.30937	-0.9961	10	0.46703	T	0.11	.	2.2298	0.03994	0.1192:0.2629:0.1219:0.4959	.	140	Q9BXR5	TLR10_HUMAN	S	140	ENSP00000308925:N140S;ENSP00000421483:N140S;ENSP00000354459:N140S;ENSP00000424923:N140S	ENSP00000308925:N140S	N	-	2	0	TLR10	38453188	0.058000	0.20735	0.419000	0.26584	0.209000	0.24338	-0.129000	0.10515	0.322000	0.23283	-0.250000	0.11733	AAC		0.393	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			9	101	0	0	0	1	0	9	101				
ACVR1C	130399	broad.mit.edu	37	2	158401124	158401124	+	Splice_Site	SNP	T	T	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:158401124T>C	ENST00000243349.8	-	5	1136	c.776A>G	c.(775-777)gAt>gGt	p.D259G	ACVR1C_ENST00000348328.5_Splice_Site_p.D102G|ACVR1C_ENST00000335450.7_Splice_Site_p.D179G|ACVR1C_ENST00000409680.3_Splice_Site_p.D209G	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						AGTTCCATTATCTAACAAGAA	0.318																																						ENST00000243349.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.e5-1		activin A receptor, type IC							57.0	59.0	58.0					2																	158401124		2203	4300	6503	SO:0001630	splice_region_variant	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158401124T>C	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.776-1A>G	2.37:g.158401124T>C						ACVR1C_ENST00000335450.7_Splice_Site_p.D179_splice|ACVR1C_ENST00000348328.5_Splice_Site_p.D102_splice|ACVR1C_ENST00000409680.3_Splice_Site_p.D209_splice	p.D259_splice	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN			5	1136	-			259			Protein kinase.			Splice_Site	SNP	ENST00000243349.8	37	c.775_splice	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.270726	0.80469	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18	5.08	5.08	0.68730	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.108344	0.40222	N	0.001158	D	0.91109	0.7201	N	0.11651	0.15	0.80722	D	1	D;B;D	0.69078	0.993;0.003;0.997	D;B;D	0.76575	0.971;0.009;0.988	D	0.87353	0.2339	10	0.06891	T	0.86	.	14.7991	0.69900	0.0:0.0:0.0:1.0	.	102;179;259	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	G	259;209;102;179	ENSP00000243349:D259G;ENSP00000387168:D209G;ENSP00000335139:D102G;ENSP00000335178:D179G	ENSP00000243349:D259G	D	-	2	0	ACVR1C	158109370	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.997000	0.88414	2.050000	0.60909	0.477000	0.44152	GAT		0.318	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259	Missense_Mutation	15	60	0	0	0	1	0	15	60				
SUPT20H	55578	broad.mit.edu	37	13	37598207	37598207	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr13:37598207G>C	ENST00000350612.6	-	19	1776	c.1556C>G	c.(1555-1557)tCt>tGt	p.S519C	SUPT20H_ENST00000356185.3_Missense_Mutation_p.S520C|SUPT20H_ENST00000360252.4_Missense_Mutation_p.S520C|SUPT20H_ENST00000464744.1_Missense_Mutation_p.S520C|SUPT20H_ENST00000475892.1_Missense_Mutation_p.S519C|SUPT20H_ENST00000542180.1_Missense_Mutation_p.S483C	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	519					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)	p.S519Y(1)									GGCAGCTGGAGAAAGCATGCT	0.398																																						ENST00000360252.4																			1	Substitution - Missense(1)	p.S519Y(1)	large_intestine(1)								c.(1558-1560)tCt>tGt		suppressor of Ty 20 homolog (S. cerevisiae)							151.0	148.0	149.0					13																	37598207		2203	4300	6503	SO:0001583	missense	55578							g.chr13:37598207G>C	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.1556C>G	13.37:g.37598207G>C	ENSP00000218894:p.Ser519Cys					SUPT20H_ENST00000475892.1_Missense_Mutation_p.S519C|SUPT20H_ENST00000464744.1_Missense_Mutation_p.S520C|SUPT20H_ENST00000542180.1_Missense_Mutation_p.S483C|SUPT20H_ENST00000350612.6_Missense_Mutation_p.S519C|SUPT20H_ENST00000356185.3_Missense_Mutation_p.S520C	p.S520C	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1					19	1806	-								E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	ENST00000350612.6	37	c.1559C>G	CCDS31959.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490429	0.84962	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180	T;T;T;T;T;T	0.55413	0.84;0.52;1.41;0.84;0.84;0.56	5.4	5.4	0.78164	.	0.233439	0.37136	N	0.002225	T	0.63988	0.2558	L	0.46157	1.445	0.58432	D	0.999999	P;P;D;D;D;D;D	0.69078	0.947;0.947;0.97;0.989;0.997;0.989;0.997	P;P;P;P;P;P;P	0.58660	0.525;0.525;0.62;0.608;0.843;0.701;0.843	T	0.63152	-0.6701	10	0.46703	T	0.11	-8.6031	19.189	0.93656	0.0:0.0:1.0:0.0	.	483;519;519;520;520;519;519	B4E2D5;B3KNI1;E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7;F5GX46	.;.;.;.;.;FA48A_HUMAN;.	C	520;519;519;520;519;520;483	ENSP00000353388:S520C;ENSP00000417510:S519C;ENSP00000218894:S519C;ENSP00000348512:S520C;ENSP00000419754:S520C;ENSP00000439000:S483C	ENSP00000218894:S519C	S	-	2	0	FAM48A	36496207	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.278000	0.89899	2.538000	0.85594	0.655000	0.94253	TCT		0.398	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		13	82	0	0	0	1	0	13	82				
RLTPR	146206	broad.mit.edu	37	16	67685742	67685742	+	Missense_Mutation	SNP	G	G	A	rs367950552		TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr16:67685742G>A	ENST00000334583.6	+	25	2910	c.2582G>A	c.(2581-2583)aGg>aAg	p.R861K	RLTPR_ENST00000545661.1_Missense_Mutation_p.R825K	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	861					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GCCTTCActaggctcaggtag	0.637																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(2581-2583)aGg>aAg		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							33.0	35.0	35.0					16																	67685742		1963	4141	6104	SO:0001583	missense	146206							g.chr16:67685742G>A	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.2582G>A	16.37:g.67685742G>A	ENSP00000334958:p.Arg861Lys					RLTPR_ENST00000545661.1_Missense_Mutation_p.R825K	p.R861K	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	25	2910	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	861					B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.2582G>A	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	G	7.803	0.714063	0.15306	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.07216	3.25;3.21	5.37	4.33	0.51752	.	0.136454	0.44483	D	0.000447	T	0.04770	0.0129	L	0.33137	0.985	0.29082	N	0.882602	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.43081	-0.9413	10	0.02654	T	1	-24.4142	5.0574	0.14540	0.2057:0.0:0.7943:0.0	.	825;861	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	K	861;825	ENSP00000334958:R861K;ENSP00000441481:R825K	ENSP00000334958:R861K	R	+	2	0	RLTPR	66243243	0.977000	0.34250	0.895000	0.35142	0.861000	0.49209	3.172000	0.50832	2.505000	0.84491	0.655000	0.94253	AGG		0.637	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		11	28	0	0	0	1	0	11	28				
CLEC18C	283971	broad.mit.edu	37	16	70208872	70208872	+	Missense_Mutation	SNP	C	C	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr16:70208872C>G	ENST00000569347.2	+	2	401	c.147C>G	c.(145-147)ttC>ttG	p.F49L	RP11-296I10.3_ENST00000502126.1_RNA|CLEC18C_ENST00000561612.1_3'UTR|RP11-296I10.3_ENST00000566989.1_RNA|CLEC18C_ENST00000541793.2_Missense_Mutation_p.F49L|CLEC18C_ENST00000314151.8_Missense_Mutation_p.F49L|CLEC18C_ENST00000536907.2_Missense_Mutation_p.F49L	NM_173619.2	NP_775890.2	Q8NCF0	CL18C_HUMAN	C-type lectin domain family 18, member C	49						extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|large_intestine(6)|lung(1)	10						AGGAGAGTTTCTTGCTCCTCT	0.637																																						ENST00000569347.2																			0				endometrium(3)|large_intestine(6)|lung(1)	10						c.(145-147)ttC>ttG		C-type lectin domain family 18, member C							40.0	41.0	41.0					16																	70208872		1843	3692	5535	SO:0001583	missense	283971							g.chr16:70208872C>G	AL833339	CCDS32473.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157335		"""C-type lectin domain containing"""	28538	protein-coding gene	gene with protein product						12477932	Standard	XM_005255906		Approved	MGC34761		Q8NCF0		ENST00000569347.2:c.147C>G	16.37:g.70208872C>G	ENSP00000455920:p.Phe49Leu					CLEC18C_ENST00000536907.2_Missense_Mutation_p.F49L|CLEC18C_ENST00000541793.2_Missense_Mutation_p.F49L|CLEC18C_ENST00000314151.8_Missense_Mutation_p.F49L|CLEC18C_ENST00000561612.1_3'UTR	p.F49L	NM_173619.2	NP_775890.2					2	401	+								Q8IUW8	Missense_Mutation	SNP	ENST00000569347.2	37	c.147C>G	CCDS32473.1	.	.	.	.	.	.	.	.	.	.	c	11.70	1.715540	0.30413	.	.	ENSG00000157335	ENST00000541793;ENST00000314151;ENST00000433156;ENST00000539438;ENST00000536907	T;T;T	0.08984	3.03;3.03;3.03	4.43	2.45	0.29901	CAP domain (2);	0.140827	0.48767	D	0.000161	T	0.13670	0.0331	L	0.32530	0.975	0.29779	N	0.83415	D	0.69078	0.997	D	0.70716	0.97	T	0.05616	-1.0874	10	0.28530	T	0.3	.	7.355	0.26714	0.0:0.8083:0.0:0.1917	.	49	Q8NCF0	CL18C_HUMAN	L	49	ENSP00000444875:F49L;ENSP00000326538:F49L;ENSP00000444726:F49L	ENSP00000326538:F49L	F	+	3	2	CLEC18C	68766373	0.790000	0.28787	0.997000	0.53966	0.616000	0.37450	0.457000	0.21875	0.411000	0.25702	0.457000	0.33378	TTC		0.637	CLEC18C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434588.2	NM_173619		10	70	0	0	0	1	0	10	70				
OR5R1	219479	broad.mit.edu	37	11	56185586	56185586	+	Silent	SNP	G	G	T	rs568499294		TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr11:56185586G>T	ENST00000312253.1	-	1	122	c.123C>A	c.(121-123)ggC>ggA	p.G41G		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ACCCAAGATTGCCCAGCACTG	0.448																																						ENST00000312253.1																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(121-123)ggC>ggA		olfactory receptor, family 5, subfamily R, member 1							119.0	119.0	119.0					11																	56185586		2201	4296	6497	SO:0001819	synonymous_variant	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185586G>T	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.123C>A	11.37:g.56185586G>T							p.G41G	NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN			1	122	-	Esophageal squamous(21;0.00448)		41						Silent	SNP	ENST00000312253.1	37	c.123C>A	CCDS31530.1																																																																																				0.448	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		26	78	1	0	5.61819e-17	1	6.42802e-17	26	78				
NUP155	9631	broad.mit.edu	37	5	37364039	37364039	+	Missense_Mutation	SNP	C	C	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr5:37364039C>G	ENST00000231498.3	-	3	546	c.343G>C	c.(343-345)Gct>Cct	p.A115P	NUP155_ENST00000513532.1_Missense_Mutation_p.A115P|NUP155_ENST00000381843.2_Missense_Mutation_p.A56P	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	115					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTGAGCCAAGCTCTGCTGATA	0.398																																						ENST00000231498.3																			0				endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62						c.(343-345)Gct>Cct		nucleoporin 155kDa							181.0	157.0	165.0					5																	37364039		2203	4300	6503	SO:0001583	missense	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37364039C>G	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.343G>C	5.37:g.37364039C>G	ENSP00000231498:p.Ala115Pro					NUP155_ENST00000513532.1_Missense_Mutation_p.A115P|NUP155_ENST00000381843.2_Missense_Mutation_p.A56P	p.A115P	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		3	546	-	all_lung(31;0.000137)		115					Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	c.343G>C	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	C	36	5.718244	0.96839	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.59502	0.26;0.26;0.26	5.78	5.78	0.91487	Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81969	0.4935	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84852	0.0814	10	0.87932	D	0	.	20.0203	0.97492	0.0:1.0:0.0:0.0	.	115;115	E9PF10;O75694	.;NU155_HUMAN	P	115;56;77;115	ENSP00000231498:A115P;ENSP00000371265:A56P;ENSP00000422019:A115P	ENSP00000231498:A115P	A	-	1	0	NUP155	37399796	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.338000	0.79269	2.730000	0.93505	0.655000	0.94253	GCT		0.398	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		11	240	0	0	0	1	0	11	240				
VWA2	340706	broad.mit.edu	37	10	116046244	116046244	+	Missense_Mutation	SNP	G	G	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr10:116046244G>T	ENST00000392982.3	+	11	1794	c.1544G>T	c.(1543-1545)gGg>gTg	p.G515V	VWA2_ENST00000603594.1_Missense_Mutation_p.G515V			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	515	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GAGCTGCAGGGGAAGCTGTGC	0.622																																						ENST00000603594.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(1543-1545)gGg>gTg		von Willebrand factor A domain containing 2							35.0	41.0	39.0					10																	116046244		2189	4298	6487	SO:0001583	missense	340706					extracellular region		g.chr10:116046244G>T	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1544G>T	10.37:g.116046244G>T	ENSP00000376708:p.Gly515Val					VWA2_ENST00000392982.3_Missense_Mutation_p.G515V	p.G515V	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	11	1865	+			515			VWFA 2.		A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37	c.1544G>T		.	.	.	.	.	.	.	.	.	.	G	2.338	-0.351862	0.05173	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	T	0.78595	-1.19	5.4	-0.55	0.11825	von Willebrand factor, type A (2);	0.849715	0.10879	N	0.624024	T	0.67942	0.2947	L	0.50333	1.59	0.09310	N	0.999993	P;B;P	0.38767	0.646;0.363;0.496	B;B;B	0.39094	0.29;0.075;0.156	T	0.55062	-0.8199	10	0.29301	T	0.29	.	6.1809	0.20470	0.4286:0.1302:0.4412:0.0	.	211;515;515	Q5GFL6-3;Q5GFL6;Q5GFL6-2	.;VWA2_HUMAN;.	V	515	ENSP00000376708:G515V	ENSP00000298715:G515V	G	+	2	0	VWA2	116036234	0.441000	0.25626	0.063000	0.19743	0.013000	0.08279	0.855000	0.27805	-0.002000	0.14469	-0.229000	0.12294	GGG		0.622	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		5	46	1	0	3.59834e-05	1	3.84024e-05	5	46				
MAML2	84441	broad.mit.edu	37	11	95718743	95718743	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr11:95718743C>T	ENST00000524717.1	-	4	3691	c.2407G>A	c.(2407-2409)Gac>Aac	p.D803N		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	803					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CTTCTTTGGTCTTTATAATCT	0.333			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	ENST00000524717.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	"""MECT1, CRTC3"""		salivary gland mucoepidermoid	CRTC3/MAML2(26)|CRTC1/MAML2(516)	0				breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2407-2409)Gac>Aac		mastermind-like 2 (Drosophila)							167.0	146.0	152.0					11																	95718743		1836	4082	5918	SO:0001583	missense	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95718743C>T	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2407G>A	11.37:g.95718743C>T	ENSP00000434552:p.Asp803Asn						p.D803N	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN			4	3691	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	803					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.2407G>A	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179278	0.78564	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.51574	0.7;0.7	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000002	T	0.59878	0.2226	L	0.39898	1.24	0.44345	D	0.997237	D	0.89917	1.0	D	0.69307	0.963	T	0.51671	-0.8676	10	0.23302	T	0.38	-28.058	19.3136	0.94202	0.0:1.0:0.0:0.0	.	803	Q8IZL2	MAML2_HUMAN	N	803	ENSP00000434552:D803N;ENSP00000412394:D803N	ENSP00000412394:D803N	D	-	1	0	MAML2	95358391	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.177000	0.65032	2.574000	0.86865	0.561000	0.74099	GAC		0.333	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			7	34	0	0	0	1	0	7	34				
PCDHB12	56124	broad.mit.edu	37	5	140589992	140589992	+	Missense_Mutation	SNP	T	T	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr5:140589992T>C	ENST00000239450.2	+	1	1702	c.1513T>C	c.(1513-1515)Tcc>Ccc	p.S505P	PCDHB12_ENST00000541609.1_Missense_Mutation_p.S168P	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	505	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCCTGGTCTCCATCAACGC	0.672																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1513-1515)Tcc>Ccc									84.0	86.0	86.0					5																	140589992		2203	4297	6500	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589992T>C	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1513T>C	5.37:g.140589992T>C	ENSP00000239450:p.Ser505Pro					PCDHB12_ENST00000541609.1_Missense_Mutation_p.S168P	p.S505P	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1702	+			505			Cadherin 5.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1513T>C	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.260908	0.39995	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.54279	0.58;0.58	3.41	2.19	0.27852	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.78039	0.4221	H	0.96720	3.87	0.25636	N	0.986252	P	0.50943	0.94	D	0.63488	0.915	T	0.67681	-0.5608	9	0.87932	D	0	.	8.7648	0.34696	0.1695:0.0:0.0:0.8305	.	505	Q9Y5F1	PCDBC_HUMAN	P	168;505;125	ENSP00000440199:S168P;ENSP00000239450:S505P	ENSP00000239450:S505P	S	+	1	0	PCDHB12	140570176	0.055000	0.20627	0.064000	0.19789	0.774000	0.43823	1.562000	0.36353	0.324000	0.23333	-0.769000	0.03391	TCC		0.672	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		9	139	0	0	0	1	0	9	139				
HNF4A	3172	broad.mit.edu	37	20	43034712	43034712	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr20:43034712G>C	ENST00000316099.4	+	2	219	c.130G>C	c.(130-132)Gaa>Caa	p.E44Q	HNF4A_ENST00000443598.2_Missense_Mutation_p.E44Q|HNF4A_ENST00000415691.2_Missense_Mutation_p.E44Q|HNF4A_ENST00000316673.4_Missense_Mutation_p.E22Q|HNF4A_ENST00000457232.1_Missense_Mutation_p.E22Q|HNF4A_ENST00000609795.1_Missense_Mutation_p.E22Q|MIR3646_ENST00000578301.1_RNA	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	44					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GTCCCCATCAGAAGGCACCAA	0.627																																					Colon(79;2 1269 8820 14841 52347)	ENST00000316099.3																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(130-132)Gaa>Caa		hepatocyte nuclear factor 4, alpha							150.0	149.0	150.0					20																	43034712		2203	4300	6503	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43034712G>C	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.130G>C	20.37:g.43034712G>C	ENSP00000312987:p.Glu44Gln					HNF4A_ENST00000457232.1_Missense_Mutation_p.E22Q|HNF4A_ENST00000415691.1_Missense_Mutation_p.E44Q|HNF4A_ENST00000443598.2_Missense_Mutation_p.E44Q	p.E44Q	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	219	+		Myeloproliferative disorder(115;0.0122)	44					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.130G>C	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	g	17.65	3.441792	0.63067	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.92647	-2.99;-2.99;-3.04;-3.08;-3.05	5.17	5.17	0.71159	.	0.267824	0.37623	N	0.002004	D	0.93284	0.7860	M	0.62723	1.935	0.54753	D	0.999983	B;B;B;B;B;B;P	0.40332	0.126;0.249;0.075;0.317;0.382;0.2;0.713	B;B;B;B;B;B;P	0.49637	0.094;0.064;0.04;0.087;0.15;0.139;0.617	D	0.91141	0.4945	10	0.19147	T	0.46	.	18.7348	0.91750	0.0:0.0:1.0:0.0	.	37;44;44;44;22;22;22	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	Q	22;22;44;44;74;44	ENSP00000315180:E22Q;ENSP00000396216:E22Q;ENSP00000312987:E44Q;ENSP00000410911:E44Q;ENSP00000412111:E44Q	ENSP00000312987:E44Q	E	+	1	0	HNF4A	42468126	1.000000	0.71417	0.996000	0.52242	0.909000	0.53808	9.589000	0.98235	2.414000	0.81942	0.645000	0.84053	GAA		0.627	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			31	212	0	0	0	1	0	31	212				
EP300	2033	broad.mit.edu	37	22	41513481	41513481	+	Missense_Mutation	SNP	G	G	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr22:41513481G>T	ENST00000263253.7	+	2	1604	c.385G>T	c.(385-387)Gca>Tca	p.A129S		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	129	Interaction with ALX1.|Interaction with RORA.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AATGACACAGGCAGGCTTGAC	0.527			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(385-387)Gca>Tca		E1A binding protein p300							67.0	62.0	64.0					22																	41513481		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41513481G>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.385G>T	22.37:g.41513481G>T	ENSP00000263253:p.Ala129Ser						p.A129S	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			2	1604	+			129			Interaction with ALX1.		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.385G>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851567	0.51270	.	.	ENSG00000100393	ENST00000263253	D	0.82526	-1.62	5.89	2.64	0.31445	.	0.141035	0.31577	N	0.007420	T	0.77624	0.4158	L	0.44542	1.39	0.27305	N	0.957464	P	0.42871	0.792	P	0.49597	0.616	T	0.66818	-0.5827	10	0.05525	T	0.97	-7.0678	8.5195	0.33266	0.1391:0.1274:0.7334:0.0	.	129	Q09472	EP300_HUMAN	S	129	ENSP00000263253:A129S	ENSP00000263253:A129S	A	+	1	0	EP300	39843427	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.642000	0.54367	0.357000	0.24183	-0.136000	0.14681	GCA		0.527	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		24	85	1	0	1.85244e-09	1	2.05467e-09	24	85				
PCDHA9	9752	broad.mit.edu	37	5	140229382	140229382	+	Silent	SNP	A	A	G	rs566372258	byFrequency	TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr5:140229382A>G	ENST00000532602.1	+	1	2335	c.1302A>G	c.(1300-1302)tcA>tcG	p.S434S	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.S434S	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	434	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(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCGCCTTCACTGTGGGCCA	0.622													.|||	2	0.000399361	0.0	0.0	5008	,	,		17169	0.0		0.002	False		,,,				2504	0.0				Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1300-1302)tcA>tcG									80.0	78.0	79.0					5																	140229382		2196	4270	6466	SO:0001819	synonymous_variant	9752							g.chr5:140229382A>G	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1302A>G	5.37:g.140229382A>G						PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.S434S|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron	p.S434S	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2026	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1302A>G	CCDS54920.1																																																																																				0.622	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		5	156	0	0	0	1	0	5	156				
FAT4	79633	broad.mit.edu	37	4	126412508	126412508	+	Missense_Mutation	SNP	C	C	G	rs189815925		TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr4:126412508C>G	ENST00000394329.3	+	17	14544	c.14531C>G	c.(14530-14532)tCc>tGc	p.S4844C	FAT4_ENST00000335110.5_Missense_Mutation_p.S3085C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4844					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GATAGTGACTCCCATGAATCT	0.453																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(14530-14532)tCc>tGc		FAT atypical cadherin 4							69.0	68.0	69.0					4																	126412508		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126412508C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.14531C>G	4.37:g.126412508C>G	ENSP00000377862:p.Ser4844Cys					FAT4_ENST00000335110.5_Missense_Mutation_p.S3085C	p.S4844C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			17	14544	+			4844					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.14531C>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839929	0.51057	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.76578	-0.83;-1.03	5.19	5.19	0.71726	.	0.000000	0.33040	U	0.005359	D	0.86431	0.5931	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.994;0.997	D	0.87745	0.2588	10	0.87932	D	0	.	17.7328	0.88383	0.0:1.0:0.0:0.0	.	3085;4844;4843	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	C	4844;3085	ENSP00000377862:S4844C;ENSP00000335169:S3085C	ENSP00000335169:S3085C	S	+	2	0	FAT4	126631958	1.000000	0.71417	0.986000	0.45419	0.273000	0.26683	7.342000	0.79310	2.425000	0.82216	0.491000	0.48974	TCC		0.453	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		10	111	0	0	0	1	0	10	111				
TMF1	7110	broad.mit.edu	37	3	69084235	69084235	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr3:69084235G>C	ENST00000398559.2	-	9	2399	c.2183C>G	c.(2182-2184)aCa>aGa	p.T728R	CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.T731R|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	728					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CGCTTGTTCTGTACGCTGCAA	0.438																																						ENST00000543976.1																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(2191-2193)aCa>aGa		TATA element modulatory factor 1							195.0	196.0	196.0					3																	69084235		1952	4144	6096	SO:0001583	missense	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69084235G>C		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.2183C>G	3.37:g.69084235G>C	ENSP00000381567:p.Thr728Arg					CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.T728R|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA	p.T731R	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	9	2438	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	728					B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	c.2192C>G	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134951	0.56828	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	T;T	0.17370	2.28;2.28	5.03	5.03	0.67393	.	0.099949	0.64402	D	0.000002	T	0.17959	0.0431	L	0.29908	0.895	0.37182	D	0.90355	B;B	0.25007	0.116;0.018	B;B	0.31101	0.124;0.013	T	0.11348	-1.0591	10	0.54805	T	0.06	-12.1446	18.7275	0.91720	0.0:0.0:1.0:0.0	.	731;728	P82094-2;P82094	.;TMF1_HUMAN	R	728;731;644	ENSP00000381567:T728R;ENSP00000438706:T731R	ENSP00000348582:T644R	T	-	2	0	TMF1	69166925	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	9.813000	0.99286	2.486000	0.83907	0.655000	0.94253	ACA		0.438	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		28	148	0	0	0	1	0	28	148				
RPS11	6205	broad.mit.edu	37	19	50002790	50002790	+	Silent	SNP	C	C	T	rs199847033		TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr19:50002790C>T	ENST00000270625.2	+	5	458	c.375C>T	c.(373-375)atC>atT	p.I125I	hsa-mir-150_ENST00000602157.1_5'Flank|MIR150_ENST00000385048.1_RNA|RPS11_ENST00000599561.1_3'UTR|RPS11_ENST00000594493.1_Silent_p.I46I|SNORD35B_ENST00000363660.1_RNA	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	125					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		TCGGTGACATCGTCACAGTGG	0.632																																						ENST00000270625.2																			0				kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7						c.(373-375)atC>atT		ribosomal protein S11							53.0	43.0	47.0					19																	50002790		2203	4300	6503	SO:0001819	synonymous_variant	6205				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome	g.chr19:50002790C>T	AB007152	CCDS12769.1	19q13.3	2011-08-03			ENSG00000142534	ENSG00000142534		"""S ribosomal proteins"""	10384	protein-coding gene	gene with protein product	"""40S ribosomal protein S11"""	180471				1577483, 9582194	Standard	NM_001015		Approved	S11	uc002pob.2	P62280		ENST00000270625.2:c.375C>T	19.37:g.50002790C>T						RPS11_ENST00000599561.1_3'UTR|RPS11_ENST00000594493.1_Silent_p.I46I	p.I125I	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)	5	458	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	125					B2R4F5|P04643|Q498Y6|Q6IRY0	Silent	SNP	ENST00000270625.2	37	c.375C>T	CCDS12769.1																																																																																				0.632	RPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465288.1	NM_001015		5	43	0	0	0	1	0	5	43				
PARD6G	84552	broad.mit.edu	37	18	77918269	77918269	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr18:77918269G>C	ENST00000353265.3	-	3	713	c.516C>G	c.(514-516)ttC>ttG	p.F172L	AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000587254.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	172	Interaction with PARD3 and CDC42. {ECO:0000250}.|PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		CGCGGATGTAGAAGCCCAGCG	0.687																																						ENST00000353265.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(514-516)ttC>ttG		par-6 family cell polarity regulator gamma							14.0	15.0	15.0					18																	77918269		2189	4281	6470	SO:0001583	missense	84552				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding	g.chr18:77918269G>C		CCDS12022.1	18q23	2013-08-28	2013-08-28		ENSG00000178184	ENSG00000178184			16076	protein-coding gene	gene with protein product		608976	"""par-6 (partitioning defective 6, C.elegans) homolog gamma"", ""par-6 partitioning defective 6 homolog gamma (C. elegans)"""			11260256	Standard	NM_032510		Approved	PAR-6G, PAR6gamma	uc002lny.3	Q9BYG4	OTTHUMG00000132922	ENST00000353265.3:c.516C>G	18.37:g.77918269G>C	ENSP00000343144:p.Phe172Leu					AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000585422.1_Intron	p.F172L	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)	3	713	-		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)	172			Interaction with PARD3 and CDC42 (By similarity).|PDZ.		A8QM57	Missense_Mutation	SNP	ENST00000353265.3	37	c.516C>G	CCDS12022.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216739	0.79352	.	.	ENSG00000178184	ENST00000353265	T	0.29917	1.55	4.71	3.74	0.42951	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.42245	0.1194	L	0.45581	1.43	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.11817	-1.0572	9	.	.	.	-32.836	8.1868	0.31343	0.1669:0.0:0.8331:0.0	.	172	Q9BYG4	PAR6G_HUMAN	L	172	ENSP00000343144:F172L	.	F	-	3	2	PARD6G	76019260	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.669000	0.46825	2.433000	0.82419	0.563000	0.77884	TTC		0.687	PARD6G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256435.2	NM_032510		7	14	0	0	0	1	0	7	14				
ZNF415	55786	broad.mit.edu	37	19	53619585	53619585	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr19:53619585G>A	ENST00000455735.2	-	4	375	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	ZNF415_ENST00000243643.4_Silent_p.Y39Y|ZNF415_ENST00000597748.1_Silent_p.Y39Y|ZNF415_ENST00000600574.1_Silent_p.Y39Y|ZNF415_ENST00000601215.1_Intron|ZNF415_ENST00000597503.1_Silent_p.Y39Y|ZNF415_ENST00000500065.4_Silent_p.Y39Y|ZNF415_ENST00000596683.1_5'UTR|ZNF415_ENST00000599261.1_Silent_p.Y39Y|ZNF415_ENST00000440291.1_5'UTR|ZNF415_ENST00000595193.1_Silent_p.Y39Y|ZNF415_ENST00000601493.1_Intron|ZNF415_ENST00000594011.1_Silent_p.Y39Y|ZNF415_ENST00000421033.1_Nonsense_Mutation_p.Q19*|ZNF415_ENST00000448501.1_Nonsense_Mutation_p.Q19*|ZNF415_ENST00000595813.1_Silent_p.Y39Y			Q09FC8	ZN415_HUMAN	zinc finger protein 415	19					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CCAGGTTCCTGTAGTTCTCCA	0.473																																						ENST00000455735.2																			0				breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(55-57)Cag>Tag		zinc finger protein 415							118.0	118.0	118.0					19																	53619585		2203	4300	6503	SO:0001587	stop_gained	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53619585G>A	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000455735.2:c.55C>T	19.37:g.53619585G>A	ENSP00000388787:p.Gln19*					ZNF415_ENST00000597503.1_Silent_p.Y39Y|ZNF415_ENST00000243643.4_Silent_p.Y39Y|ZNF415_ENST00000595193.1_Silent_p.Y39Y|ZNF415_ENST00000595813.1_Silent_p.Y39Y|ZNF415_ENST00000594011.1_Silent_p.Y39Y|ZNF415_ENST00000500065.4_Silent_p.Y39Y|ZNF415_ENST00000599261.1_Silent_p.Y39Y|ZNF415_ENST00000597748.1_Silent_p.Y39Y|ZNF415_ENST00000448501.1_Nonsense_Mutation_p.Q19*|ZNF415_ENST00000440291.1_5'UTR|ZNF415_ENST00000601493.1_Intron|ZNF415_ENST00000601215.1_Intron|ZNF415_ENST00000596683.1_5'UTR|ZNF415_ENST00000600574.1_Silent_p.Y39Y|ZNF415_ENST00000421033.1_Nonsense_Mutation_p.Q19*	p.Q19*			Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	4	375	-			19					F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Nonsense_Mutation	SNP	ENST00000455735.2	37	c.55C>T		.	.	.	.	.	.	.	.	.	.	G	36	5.601293	0.96614	.	.	ENSG00000170954	ENST00000448501;ENST00000421033;ENST00000455735	.	.	.	2.95	0.727	0.18254	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.0566	0.14537	0.2978:0.0:0.7022:0.0	.	.	.	.	X	19	.	ENSP00000395055:Q19X	Q	-	1	0	ZNF415	58311397	0.000000	0.05858	0.343000	0.25615	0.995000	0.86356	-1.353000	0.02617	0.126000	0.18424	0.462000	0.41574	CAG		0.473	ZNF415-204	KNOWN	basic	protein_coding	protein_coding		NM_018355		53	157	0	0	0	1	0	53	157				
FUNDC1	139341	broad.mit.edu	37	X	44383462	44383462	+	Silent	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chrX:44383462C>T	ENST00000378045.4	-	5	618	c.450G>A	c.(448-450)ttG>ttA	p.L150L	FUNDC1_ENST00000483115.1_5'UTR	NM_173794.3	NP_776155.1	Q8IVP5	FUND1_HUMAN	FUN14 domain containing 1	150					mitochondrion degradation (GO:0000422)|response to hypoxia (GO:0001666)	integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)				breast(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						CAAGTCCGAGCAAAAAGCCTC	0.378																																						ENST00000378045.4																			0				breast(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						c.(448-450)ttG>ttA		FUN14 domain containing 1							117.0	103.0	108.0					X																	44383462		2203	4300	6503	SO:0001819	synonymous_variant	139341							g.chrX:44383462C>T	BC042813	CCDS14263.1	Xp11.4	2005-09-22			ENSG00000069509	ENSG00000069509			28746	protein-coding gene	gene with protein product		300871				12477932	Standard	NM_173794		Approved	MGC51029	uc004dgc.3	Q8IVP5	OTTHUMG00000021399	ENST00000378045.4:c.450G>A	X.37:g.44383462C>T						FUNDC1_ENST00000483115.1_5'UTR	p.L150L	NM_173794.3	NP_776155.1	Q8IVP5	FUND1_HUMAN			5	618	-			150						Silent	SNP	ENST00000378045.4	37	c.450G>A	CCDS14263.1																																																																																				0.378	FUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056320.1	NM_173794		9	12	0	0	0	1	0	9	12				
PEX5L	51555	broad.mit.edu	37	3	179593188	179593188	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr3:179593188C>T	ENST00000467460.1	-	6	913	c.583G>A	c.(583-585)Gag>Aag	p.E195K	PEX5L_ENST00000465751.1_Missense_Mutation_p.E171K|PEX5L_ENST00000472994.1_Missense_Mutation_p.E136K|PEX5L_ENST00000464614.1_Missense_Mutation_p.E87K|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000392649.3_Missense_Mutation_p.E87K|PEX5L_ENST00000476138.1_Missense_Mutation_p.E152K|PEX5L_ENST00000485199.1_Missense_Mutation_p.E160K|PEX5L_ENST00000263962.8_Missense_Mutation_p.E193K|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.E3K	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	195					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GATTTTCTCTCTGCCATTGGA	0.388																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(583-585)Gag>Aag		peroxisomal biogenesis factor 5-like							211.0	185.0	194.0					3																	179593188		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179593188C>T	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.583G>A	3.37:g.179593188C>T	ENSP00000419975:p.Glu195Lys					PEX5L_ENST00000472994.1_Missense_Mutation_p.E136K|PEX5L_ENST00000468741.1_Missense_Mutation_p.E3K|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.E171K|PEX5L_ENST00000464614.1_Missense_Mutation_p.E87K|PEX5L_ENST00000392649.3_Missense_Mutation_p.E87K|PEX5L_ENST00000263962.8_Missense_Mutation_p.E193K|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000485199.1_Missense_Mutation_p.E160K|PEX5L_ENST00000476138.1_Missense_Mutation_p.E152K	p.E195K	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		6	913	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		195					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.583G>A	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983597	0.74474	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000496721;ENST00000491640;ENST00000469198	D;D;D;D;D;D;D;D;D	0.89746	-2.55;-2.55;-2.5;-2.32;-2.56;-2.51;-2.52;-2.32;-2.52	5.88	5.88	0.94601	.	0.054776	0.64402	D	0.000001	D	0.90414	0.6999	L	0.32530	0.975	0.58432	D	0.999992	D;P;P;D;D;D	0.59767	0.976;0.941;0.884;0.986;0.986;0.976	P;P;B;P;P;P	0.56278	0.629;0.453;0.358;0.795;0.795;0.629	D	0.90702	0.4621	10	0.62326	D	0.03	-14.2198	20.2422	0.98381	0.0:1.0:0.0:0.0	.	136;171;87;193;160;195	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	K	195;193;160;193;87;3;152;83;136;87;171;3;3;184	ENSP00000419975:E195K;ENSP00000263962:E193K;ENSP00000418440:E160K;ENSP00000376420:E87K;ENSP00000418665:E3K;ENSP00000420555:E152K;ENSP00000418054:E136K;ENSP00000417270:E87K;ENSP00000419348:E171K	ENSP00000263962:E193K	E	-	1	0	PEX5L	181075882	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.335000	0.65929	2.788000	0.95919	0.650000	0.86243	GAG		0.388	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		5	168	0	0	0	1	0	5	168				
TVP23C	201158	broad.mit.edu	37	17	15458637	15458637	+	Silent	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr17:15458637C>T	ENST00000225576.3	-	2	149	c.54G>A	c.(52-54)gcG>gcA	p.A18A	TVP23C_ENST00000428082.2_Silent_p.A18A|TVP23C-CDRT4_ENST00000522212.2_Silent_p.A18A|TVP23C_ENST00000519970.1_5'UTR|TVP23C_ENST00000518321.1_Silent_p.A18A|TVP23C_ENST00000438826.3_Silent_p.A18A|TVP23C_ENST00000584811.1_5'UTR	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	18						integral component of membrane (GO:0016021)											TCTCCTCTTCCGCATCAAACA	0.398																																						ENST00000522212.2																			0											c.(52-54)gcG>gcA									268.0	234.0	246.0					17																	15458637		2203	4298	6501	SO:0001819	synonymous_variant	100533496							g.chr17:15458637C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.54G>A	17.37:g.15458637C>T						TVP23C_ENST00000438826.3_Silent_p.A18A|TVP23C_ENST00000225576.3_Silent_p.A18A|TVP23C_ENST00000428082.2_Silent_p.A18A|TVP23C_ENST00000518321.1_Silent_p.A18A|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000519970.1_5'UTR	p.A18A	NM_001204478.1	NP_001191407.1					2	166	-								Q3LIC7	Silent	SNP	ENST00000225576.3	37	c.54G>A	CCDS11170.1																																																																																				0.398	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		8	200	0	0	0	1	0	8	200				
RIPK2	8767	broad.mit.edu	37	8	90782102	90782102	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr8:90782102G>C	ENST00000220751.4	+	4	900	c.586G>C	c.(586-588)Gaa>Caa	p.E196Q	RIPK2_ENST00000540020.1_Missense_Mutation_p.E59Q	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	196	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TATGCCACCTGAAAACTATGA	0.418																																						ENST00000220751.4																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10						c.(586-588)Gaa>Caa		receptor-interacting serine-threonine kinase 2							122.0	123.0	123.0					8																	90782102		2203	4300	6503	SO:0001583	missense	8767				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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 protein ubiquitination|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	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity	g.chr8:90782102G>C	AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.586G>C	8.37:g.90782102G>C	ENSP00000220751:p.Glu196Gln					RIPK2_ENST00000540020.1_Missense_Mutation_p.E59Q	p.E196Q	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0474)		4	900	+			196			Protein kinase.		B7Z748|Q6UWF0	Missense_Mutation	SNP	ENST00000220751.4	37	c.586G>C	CCDS6247.1	.	.	.	.	.	.	.	.	.	.	G	32	5.107373	0.94292	.	.	ENSG00000104312	ENST00000220751;ENST00000540020	T;D	0.84370	-0.47;-1.84	5.4	5.4	0.78164	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43747	D	0.000521	D	0.95066	0.8402	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95938	0.8944	10	0.87932	D	0	-22.9877	19.3691	0.94477	0.0:0.0:1.0:0.0	.	196	O43353	RIPK2_HUMAN	Q	196;59	ENSP00000220751:E196Q;ENSP00000441623:E59Q	ENSP00000220751:E196Q	E	+	1	0	RIPK2	90851239	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.350000	0.97070	2.822000	0.97130	0.650000	0.86243	GAA		0.418	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375686.1			56	244	0	0	0	1	0	56	244				
NCOR1	9611	broad.mit.edu	37	17	15942786	15942786	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr17:15942786C>T	ENST00000268712.3	-	44	7173	c.6916G>A	c.(6916-6918)Gag>Aag	p.E2306K	AC002553.1_ENST00000442828.1_5'Flank|NCOR1_ENST00000395857.3_Missense_Mutation_p.E890K|NCOR1_ENST00000395851.1_Missense_Mutation_p.E2203K	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2306	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTTCGTGTCTCACCACTGGTC	0.483																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(6916-6918)Gag>Aag		nuclear receptor corepressor 1							158.0	110.0	127.0					17																	15942786		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15942786C>T	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.6916G>A	17.37:g.15942786C>T	ENSP00000268712:p.Glu2306Lys					NCOR1_ENST00000395851.1_Missense_Mutation_p.E2203K|NCOR1_ENST00000395857.3_Missense_Mutation_p.E890K	p.E2306K	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	44	7173	-			2306			Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.6916G>A	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734412	0.89482	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.47528	0.84;1.41;0.84	5.61	5.61	0.85477	.	0.260617	0.43747	D	0.000533	T	0.66934	0.2840	M	0.66939	2.045	0.58432	D	0.999997	D;D;D;P;P	0.76494	0.985;0.988;0.999;0.604;0.911	P;P;D;B;P	0.64237	0.585;0.696;0.923;0.108;0.547	T	0.69243	-0.5196	10	0.87932	D	0	-10.6523	18.6301	0.91357	0.0:1.0:0.0:0.0	.	2210;2306;2203;826;320	E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2	.;NCOR1_HUMAN;.;.;.	K	2306;2203;2210;890	ENSP00000268712:E2306K;ENSP00000379192:E2203K;ENSP00000379198:E890K	ENSP00000268712:E2306K	E	-	1	0	NCOR1	15883511	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	6.821000	0.75272	2.640000	0.89533	0.655000	0.94253	GAG		0.483	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		6	108	0	0	0	1	0	6	108				
RP1	6101	broad.mit.edu	37	8	55538911	55538911	+	Silent	SNP	T	T	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr8:55538911T>C	ENST00000220676.1	+	4	2617	c.2469T>C	c.(2467-2469)ttT>ttC	p.F823F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	823					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTCATGTATTTAACATCCTTG	0.328																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(2467-2469)ttT>ttC		retinitis pigmentosa 1 (autosomal dominant)							39.0	44.0	42.0					8																	55538911		2194	4291	6485	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55538911T>C	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2469T>C	8.37:g.55538911T>C							p.F823F	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	2617	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	823						Silent	SNP	ENST00000220676.1	37	c.2469T>C	CCDS6160.1																																																																																				0.328	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		6	138	0	0	0	1	0	6	138				
SLC9B1	150159	broad.mit.edu	37	4	103822451	103822451	+	Silent	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr4:103822451G>A	ENST00000296422.7	-	12	1512	c.1371C>T	c.(1369-1371)gtC>gtT	p.V457V	SLC9B1_ENST00000512651.2_5'UTR|SLC9B1_ENST00000394789.3_Intron	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	457					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										GGGGTGCGGAGACTCTTGCTG	0.423																																						ENST00000296422.7																			0											c.(1369-1371)gtC>gtT		solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1							79.0	81.0	80.0					4																	103822451		2185	4268	6453	SO:0001819	synonymous_variant	150159					integral to membrane	solute:hydrogen antiporter activity	g.chr4:103822451G>A	AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.1371C>T	4.37:g.103822451G>A						SLC9B1_ENST00000394789.3_Intron|SLC9B1_ENST00000512651.2_5'UTR	p.V457V	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN			12	1512	-			457					A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Silent	SNP	ENST00000296422.7	37	c.1371C>T	CCDS34041.1																																																																																				0.423	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		5	220	0	0	0	1	0	5	220				
SH3GL3	6457	broad.mit.edu	37	15	84241424	84241424	+	Missense_Mutation	SNP	C	C	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr15:84241424C>G	ENST00000427482.2	+	5	745	c.439C>G	c.(439-441)Caa>Gaa	p.Q147E	SH3GL3_ENST00000434347.1_Missense_Mutation_p.Q155E|SH3GL3_ENST00000324537.5_Missense_Mutation_p.Q155E|SH3GL3_ENST00000535412.1_Missense_Mutation_p.Q147E	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	147	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TCAGTTACTACAAGATAAAGA	0.323																																						ENST00000324537.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(463-465)Caa>Gaa		SH3-domain GRB2-like 3							74.0	69.0	71.0					15																	84241424		2203	4300	6503	SO:0001583	missense	6457				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	g.chr15:84241424C>G	AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.439C>G	15.37:g.84241424C>G	ENSP00000391372:p.Gln147Glu					SH3GL3_ENST00000427482.2_Missense_Mutation_p.Q147E|SH3GL3_ENST00000434347.1_Missense_Mutation_p.Q155E|SH3GL3_ENST00000535412.1_Missense_Mutation_p.Q147E	p.Q155E			Q99963	SH3G3_HUMAN			8	955	+			147			BAR.		O43553|O43554	Missense_Mutation	SNP	ENST00000427482.2	37	c.463C>G	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273610	0.40194	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.45	4.48	0.54585	BAR (3);	0.250497	0.42294	D	0.000727	T	0.54743	0.1877	L	0.50333	1.59	0.80722	D	1	P;B;B	0.40282	0.711;0.037;0.03	B;B;B	0.34722	0.188;0.018;0.047	T	0.60016	-0.7345	10	0.42905	T	0.14	-9.8705	15.9579	0.79902	0.0:0.8655:0.1345:0.0	.	147;147;155	Q8IVP1;Q99963;Q99963-3	.;SH3G3_HUMAN;.	E	147;147;155;155	ENSP00000391372:Q147E;ENSP00000439239:Q147E;ENSP00000320092:Q155E;ENSP00000397871:Q155E	ENSP00000320092:Q155E	Q	+	1	0	SH3GL3	82032428	0.049000	0.20398	0.995000	0.50966	0.993000	0.82548	1.120000	0.31271	2.715000	0.92844	0.585000	0.79938	CAA		0.323	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027		9	54	0	0	0	1	0	9	54				
ZCCHC6	79670	broad.mit.edu	37	9	88932136	88932136	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr9:88932136G>A	ENST00000375963.3	-	17	3444	c.3272C>T	c.(3271-3273)tCa>tTa	p.S1091L	ZCCHC6_ENST00000375957.1_Missense_Mutation_p.S29L|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.S1091L|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.S855L|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.S380L	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1091					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AGAGGTACCTGAATGTTTTCT	0.363																																						ENST00000277141.6																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(1138-1140)tCa>tTa		zinc finger, CCHC domain containing 6							79.0	84.0	82.0					9																	88932136		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88932136G>A	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.3272C>T	9.37:g.88932136G>A	ENSP00000365130:p.Ser1091Leu					ZCCHC6_ENST00000375960.2_Missense_Mutation_p.S855L|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.S1091L|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.S29L|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.S1091L	p.S380L			Q5VYS8	TUT7_HUMAN			18	3563	-			1091					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.1139C>T	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712480	0.48517	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375957;ENST00000375963	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	4.73	4.73	0.59995	.	0.527040	0.19752	N	0.106864	T	0.42449	0.1203	M	0.63169	1.94	0.38420	D	0.946165	P;B;B	0.35575	0.51;0.34;0.038	B;B;B	0.36808	0.185;0.233;0.044	T	0.47923	-0.9079	10	0.46703	T	0.11	-28.0526	12.9143	0.58197	0.0:0.0:0.8376:0.1624	.	1091;855;1091	Q5VYS8-6;Q5VYS8-4;Q5VYS8	.;.;TUT7_HUMAN	L	380;855;1091;29;1091	ENSP00000277141:S380L;ENSP00000365127:S855L;ENSP00000365128:S1091L;ENSP00000365124:S29L;ENSP00000365130:S1091L	ENSP00000277141:S380L	S	-	2	0	ZCCHC6	88121956	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.397000	0.90193	2.633000	0.89246	0.655000	0.94253	TCA		0.363	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		8	124	0	0	0	1	0	8	124				
GSTP1	2950	broad.mit.edu	37	11	67353607	67353607	+	Silent	SNP	G	G	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr11:67353607G>T	ENST00000398606.3	+	6	618	c.369G>T	c.(367-369)ctG>ctT	p.L123L	GSTP1_ENST00000498765.1_3'UTR|GSTP1_ENST00000398603.1_Intron	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	123	GST C-terminal.				cellular response to lipopolysaccharide (GO:0071222)|central nervous system development (GO:0007417)|common myeloid progenitor cell proliferation (GO:0035726)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biosynthetic process (GO:0009890)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of leukocyte proliferation (GO:0070664)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|nitric oxide storage (GO:0035732)|positive regulation of superoxide anion generation (GO:0032930)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of stress-activated MAPK cascade (GO:0032872)|response to reactive oxygen species (GO:0000302)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|TRAF2-GSTP1 complex (GO:0097057)|vesicle (GO:0031982)	dinitrosyl-iron complex binding (GO:0035731)|glutathione transferase activity (GO:0004364)|JUN kinase binding (GO:0008432)|kinase regulator activity (GO:0019207)|nitric oxide binding (GO:0070026)|S-nitrosoglutathione binding (GO:0035730)			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Busulfan(DB01008)|Carboplatin(DB00958)|Chlorambucil(DB00291)|Cisplatin(DB00515)|Clomipramine(DB01242)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	TGAAGGCACTGCCCGGGCAAC	0.597																																						ENST00000398606.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9						c.(367-369)ctG>ctT		glutathione S-transferase pi 1	Ethacrynic acid(DB00903)|Glutathione(DB00143)						52.0	56.0	55.0					11																	67353607		2082	4214	6296	SO:0001819	synonymous_variant	2950				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding	g.chr11:67353607G>T	U12472	CCDS41679.1	11q13.2	2014-09-17	2008-07-18		ENSG00000084207	ENSG00000084207	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4638	protein-coding gene	gene with protein product		134660		FAEES3, GST3		1885604, 7587384, 19915149	Standard	NM_000852		Approved	GSTP	uc001omf.3	P09211	OTTHUMG00000137430	ENST00000398606.3:c.369G>T	11.37:g.67353607G>T						GSTP1_ENST00000498765.1_3'UTR|GSTP1_ENST00000398603.1_Intron	p.L123L	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN			6	618	+			123			GST C-terminal.		O00460|Q15690|Q5TZY3	Silent	SNP	ENST00000398606.3	37	c.369G>T	CCDS41679.1																																																																																				0.597	GSTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268504.1	NM_000852		6	33	1	0	0.217242	1	0.217242	6	33				
CNR2	1269	broad.mit.edu	37	1	24201772	24201772	+	Silent	SNP	G	G	A	rs142210955		TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr1:24201772G>A	ENST00000374472.4	-	2	497	c.336C>T	c.(334-336)agC>agT	p.S112S	CNR2_ENST00000536471.1_Silent_p.S112S	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	112					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	TCATAGTCACGCTGCCAATCT	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		22208	0.0		0.001	False		,,,				2504	0.0					ENST00000536471.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26						c.(334-336)agC>agT		cannabinoid receptor 2 (macrophage)	Nabilone(DB00486)	G		0,4406		0,0,2203	103.0	95.0	98.0		336	-5.0	0.9	1	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CNR2	NM_001841.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		112/361	24201772	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1269				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	g.chr1:24201772G>A	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"""GPCR / Class A : Cannabinoid receptors"""	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.336C>T	1.37:g.24201772G>A						CNR2_ENST00000374472.4_Silent_p.S112S	p.S112S			P34972	CNR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	3	594	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	112					C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Silent	SNP	ENST00000374472.4	37	c.336C>T	CCDS245.1																																																																																				0.527	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		4	111	0	0	0	1	0	4	111				
SGK3	23678	broad.mit.edu	37	8	67740902	67740902	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr8:67740902C>G	ENST00000396596.1	+	7	645	c.431C>G	c.(430-432)tCa>tGa	p.S144*	SGK3_ENST00000345714.4_Nonsense_Mutation_p.S144*|SGK3_ENST00000522398.1_Nonsense_Mutation_p.S144*|SGK3_ENST00000521198.2_Nonsense_Mutation_p.S144*|C8orf44-SGK3_ENST00000519289.1_Nonsense_Mutation_p.S144*|SGK3_ENST00000520976.1_Nonsense_Mutation_p.S144*	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	144					ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CACTCTACCTCACAGAACATC	0.323																																						ENST00000396596.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(430-432)tCa>tGa		serum/glucocorticoid regulated kinase family, member 3							175.0	177.0	176.0					8																	67740902		2203	4300	6503	SO:0001587	stop_gained	23678				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity	g.chr8:67740902C>G		CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"""serum/glucocorticoid regulated kinase-like"""	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.431C>G	8.37:g.67740902C>G	ENSP00000379842:p.Ser144*					SGK3_ENST00000522398.1_Nonsense_Mutation_p.S144*|C8orf44-SGK3_ENST00000519289.1_Nonsense_Mutation_p.S144*|SGK3_ENST00000345714.4_Nonsense_Mutation_p.S144*|SGK3_ENST00000520976.1_Nonsense_Mutation_p.S144*|SGK3_ENST00000521198.2_Nonsense_Mutation_p.S144*	p.S144*	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)		7	645	+	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	144					A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Nonsense_Mutation	SNP	ENST00000396596.1	37	c.431C>G	CCDS6195.1	.	.	.	.	.	.	.	.	.	.	C	38	7.282346	0.98186	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000521960;ENST00000522398;ENST00000520976;ENST00000396596;ENST00000345714;ENST00000519396	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	19.2897	0.94093	0.0:1.0:0.0:0.0	.	.	.	.	X	144;144;144;77;144;144;144;144;26	.	ENSP00000262211:S144X	S	+	2	0	SGK3	67903456	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.818000	0.86416	2.559000	0.86315	0.563000	0.77884	TCA		0.323	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3			20	218	0	0	0	1	0	20	218				
PCDH9	5101	broad.mit.edu	37	13	67801523	67801523	+	Silent	SNP	A	A	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr13:67801523A>G	ENST00000377865.2	-	1	1184	c.1050T>C	c.(1048-1050)gaT>gaC	p.D350D	PCDH9_ENST00000456367.1_Silent_p.D350D|PCDH9_ENST00000377861.3_Silent_p.D350D|PCDH9_ENST00000328454.5_Silent_p.D350D|PCDH9_ENST00000544246.1_Silent_p.D350D			Q9HC56	PCDH9_HUMAN	protocadherin 9	350	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TATCATTTACATCGGTGACAT	0.448																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(1048-1050)gaT>gaC		protocadherin 9							148.0	143.0	145.0					13																	67801523		2203	4300	6503	SO:0001819	synonymous_variant	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801523A>G	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1050T>C	13.37:g.67801523A>G						PCDH9_ENST00000328454.5_Silent_p.D350D|PCDH9_ENST00000377865.2_Silent_p.D350D|PCDH9_ENST00000377861.3_Silent_p.D350D|PCDH9_ENST00000456367.1_Silent_p.D350D	p.D350D	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1741	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	350			Cadherin 3.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	c.1050T>C	CCDS9444.1																																																																																				0.448	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		17	180	0	0	0	1	0	17	180				
LDB3	11155	broad.mit.edu	37	10	88478496	88478496	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr10:88478496G>C	ENST00000361373.4	+	11	1891	c.1870G>C	c.(1870-1872)Gcc>Ccc	p.A624P	LDB3_ENST00000458213.2_Missense_Mutation_p.A514P|LDB3_ENST00000263066.6_Missense_Mutation_p.A514P|LDB3_ENST00000352360.5_Missense_Mutation_p.A367P|LDB3_ENST00000429277.2_Missense_Mutation_p.A629P	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						AGTAATGCATGCCTTGAGACA	0.587																																						ENST00000429277.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						c.(1885-1887)Gcc>Ccc		LIM domain binding 3							114.0	105.0	108.0					10																	88478496		2203	4300	6503	SO:0001583	missense	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88478496G>C	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.1870G>C	10.37:g.88478496G>C	ENSP00000355296:p.Ala624Pro					LDB3_ENST00000352360.5_Missense_Mutation_p.A367P|LDB3_ENST00000458213.2_Missense_Mutation_p.A514P|LDB3_ENST00000263066.6_Missense_Mutation_p.A514P|LDB3_ENST00000361373.4_Missense_Mutation_p.A624P	p.A629P	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN			12	2030	+			624			LIM zinc-binding 2.			Missense_Mutation	SNP	ENST00000361373.4	37	c.1885G>C	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174984	0.94807	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000352360;ENST00000263066;ENST00000361373	D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64	5.49	5.49	0.81192	Zinc finger, LIM-type (5);	0.000000	0.32372	N	0.006199	D	0.97745	0.9260	H	0.99347	4.525	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.998;0.998;1.0;0.998	D	0.99383	1.0923	10	0.87932	D	0	.	19.3968	0.94610	0.0:0.0:1.0:0.0	.	629;545;367;624;514	B4E3K3;B4DGP4;O75112-3;O75112;O75112-2	.;.;.;LDB3_HUMAN;.	P	545;629;514;367;514;624	ENSP00000401437:A629P;ENSP00000409148:A514P;ENSP00000263067:A367P;ENSP00000263066:A514P;ENSP00000355296:A624P	ENSP00000263066:A514P	A	+	1	0	LDB3	88468476	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	9.869000	0.99810	2.565000	0.86533	0.655000	0.94253	GCC		0.587	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			44	87	0	0	0	1	0	44	87				
OR2AE1	81392	broad.mit.edu	37	7	99474188	99474188	+	Silent	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr7:99474188G>A	ENST00000316368.2	-	1	492	c.469C>T	c.(469-471)Cta>Tta	p.L157L		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					ATGTGAATTAGGGAGTTCACG	0.507																																						ENST00000316368.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11						c.(469-471)Cta>Tta		olfactory receptor, family 2, subfamily AE, member 1							150.0	139.0	143.0					7																	99474188		2203	4300	6503	SO:0001819	synonymous_variant	81392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:99474188G>A	AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"""GPCR / Class A : Olfactory receptors"""	15087	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily AE, member 2"""	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.469C>T	7.37:g.99474188G>A							p.L157L	NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN			1	492	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		157					B2RPD2	Silent	SNP	ENST00000316368.2	37	c.469C>T	CCDS34696.1																																																																																				0.507	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345053.1			4	130	0	0	0	1	0	4	130				
RAB12	201475	broad.mit.edu	37	18	8624994	8624994	+	Missense_Mutation	SNP	C	C	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr18:8624994C>G	ENST00000329286.6	+	2	568	c.285C>G	c.(283-285)atC>atG	p.I95M		NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	95					autophagy (GO:0006914)|cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|recycling endosome membrane (GO:0055038)|secretory granule (GO:0030141)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						GATTACAGATCTGGTAAGTGG	0.358																																						ENST00000329286.6																			0				breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						c.(283-285)atC>atG		RAB12, member RAS oncogene family							200.0	190.0	193.0					18																	8624994		1873	4114	5987	SO:0001583	missense	201475				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr18:8624994C>G		CCDS42410.1	18p11.22	2006-12-18				ENSG00000206418		"""RAB, member RAS oncogene"""	31332	protein-coding gene	gene with protein product							Standard	NM_001025300		Approved		uc002knp.3	Q6IQ22		ENST00000329286.6:c.285C>G	18.37:g.8624994C>G	ENSP00000331748:p.Ile95Met						p.I95M	NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN			2	568	+			95					A6NEF5|Q4KMQ3	Missense_Mutation	SNP	ENST00000329286.6	37	c.285C>G	CCDS42410.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910073	0.52439	.	.	ENSG00000206418	ENST00000329286	D	0.81996	-1.56	5.79	2.99	0.34606	Small GTP-binding protein domain (1);	0.000000	0.85682	U	0.000000	D	0.92044	0.7479	H	0.95574	3.69	0.52501	D	0.999953	D	0.71674	0.998	D	0.87578	0.998	D	0.89685	0.3893	10	0.87932	D	0	.	6.2147	0.20648	0.3899:0.4823:0.0:0.1278	.	95	Q6IQ22	RAB12_HUMAN	M	95	ENSP00000331748:I95M	ENSP00000331748:I95M	I	+	3	3	RAB12	8614994	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	1.104000	0.31074	0.336000	0.23639	-0.169000	0.13324	ATC		0.358	RAB12-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444080.1	XM_113967		21	122	0	0	0	1	0	21	122				
RGPD8	727851	broad.mit.edu	37	2	113146877	113146877	+	Silent	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:113146877G>A	ENST00000302558.3	-	20	3836	c.3645C>T	c.(3643-3645)gtC>gtT	p.V1215V	RGPD8_ENST00000409750.1_Silent_p.V1075V	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1215					protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						CTTCCTCAGTGACTTTTGTTT	0.418																																						ENST00000302558.3																			0				endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(3643-3645)gtC>gtT		RANBP2-like and GRIP domain containing 8							6.0	4.0	5.0					2																	113146877		632	1421	2053	SO:0001819	synonymous_variant	727851							g.chr2:113146877G>A	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.3645C>T	2.37:g.113146877G>A						RGPD8_ENST00000409750.1_Silent_p.V1075V	p.V1215V	NM_001164463.1	NP_001157935.1					20	3836	-								Q5CZA8	Silent	SNP	ENST00000302558.3	37	c.3645C>T	CCDS46394.1																																																																																				0.418	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		13	521	0	0	0	1	0	13	521				
TUBA3E	112714	broad.mit.edu	37	2	130951771	130951771	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:130951771C>T	ENST00000312988.7	-	4	744	c.644G>A	c.(643-645)cGc>cAc	p.R215H		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	215					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GTCCAGGTTGCGCCGACATAT	0.552																																						ENST00000312988.7																			0				endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28						c.(643-645)cGc>cAc		tubulin, alpha 3e							108.0	72.0	84.0					2																	130951771		2203	4296	6499	SO:0001583	missense	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130951771C>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.644G>A	2.37:g.130951771C>T	ENSP00000318197:p.Arg215His						p.R215H	NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN			4	744	-	Colorectal(110;0.1)		215						Missense_Mutation	SNP	ENST00000312988.7	37	c.644G>A	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	10.02	1.236897	0.22711	.	.	ENSG00000152086	ENST00000312988	T	0.69926	-0.44	2.92	1.06	0.20224	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.50627	U	0.000108	T	0.80287	0.4595	M	0.91249	3.19	0.37298	D	0.90856	D	0.65815	0.995	D	0.63793	0.918	T	0.80478	-0.1365	10	0.87932	D	0	.	6.8568	0.24044	0.0:0.7565:0.0:0.2435	.	215	Q6PEY2	TBA3E_HUMAN	H	215	ENSP00000318197:R215H	ENSP00000318197:R215H	R	-	2	0	TUBA3E	130668241	0.394000	0.25246	1.000000	0.80357	0.083000	0.17756	3.899000	0.56288	0.133000	0.18654	0.449000	0.29647	CGC		0.552	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		5	156	0	0	0	1	0	5	156				
TEKT5	146279	broad.mit.edu	37	16	10729668	10729668	+	Silent	SNP	C	C	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr16:10729668C>G	ENST00000283025.2	-	6	1265	c.1194G>C	c.(1192-1194)cgG>cgC	p.R398R	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	398						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GGCGCCGGGTCCGGCACTCCA	0.622																																						ENST00000283025.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						c.(1192-1194)cgG>cgC		tektin 5							105.0	110.0	109.0					16																	10729668		2197	4300	6497	SO:0001819	synonymous_variant	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10729668C>G		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.1194G>C	16.37:g.10729668C>G						TEKT5_ENST00000574923.1_5'UTR	p.R398R	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN			6	1265	-			398					A1L3Z3	Silent	SNP	ENST00000283025.2	37	c.1194G>C	CCDS10542.1																																																																																				0.622	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674		14	174	0	0	0	1	0	14	174				
FMNL2	114793	broad.mit.edu	37	2	153494169	153494169	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:153494169G>A	ENST00000475377.2	+	10	1252	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q	FMNL2_ENST00000288670.9_Missense_Mutation_p.R976Q			Q96PY5	FMNL2_HUMAN	formin-like 2	976	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GTCTTTGTCCGGTTTGTGAAA	0.438																																						ENST00000288670.9																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						c.(2926-2928)cGg>cAg		formin-like 2							147.0	140.0	142.0					2																	153494169		1899	4118	6017	SO:0001583	missense	114793				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	g.chr2:153494169G>A	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000475377.2:c.1052G>A	2.37:g.153494169G>A	ENSP00000418959:p.Arg351Gln					FMNL2_ENST00000475377.2_Missense_Mutation_p.R351Q	p.R976Q	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN			23	3294	+			976			FH2.		B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	ENST00000475377.2	37	c.2927G>A		.	.	.	.	.	.	.	.	.	.	G	25.8	4.679223	0.88542	.	.	ENSG00000157827	ENST00000288670;ENST00000421344;ENST00000475377	T;T	0.16324	2.35;2.35	5.91	5.91	0.95273	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.46698	0.1406	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.992;1.0;0.999	T	0.16837	-1.0389	10	0.27785	T	0.31	.	20.2959	0.98551	0.0:0.0:1.0:0.0	.	976;457;976	Q96PY5;Q6ZN96;Q96PY5-3	FMNL2_HUMAN;.;.	Q	976;457;351	ENSP00000288670:R976Q;ENSP00000418959:R351Q	ENSP00000288670:R976Q	R	+	2	0	FMNL2	153202415	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.808000	0.99193	2.793000	0.96121	0.655000	0.94253	CGG		0.438	FMNL2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333583.3	NM_052905		7	57	0	0	0	1	0	7	57				
ESYT2	57488	broad.mit.edu	37	7	158552833	158552833	+	Silent	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr7:158552833G>A	ENST00000251527.5	-	12	1448	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	489	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CGTCCAGAGTGAACCACTGAA	0.438																																						ENST00000251527.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						c.(1381-1383)ttC>ttT		extended synaptotagmin-like protein 2							114.0	98.0	103.0					7																	158552833		2203	4300	6503	SO:0001819	synonymous_variant	57488					integral to membrane|plasma membrane		g.chr7:158552833G>A	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.1383C>T	7.37:g.158552833G>A							p.F461F	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN			12	1448	-			489			C2 1.		A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Silent	SNP	ENST00000251527.5	37	c.1383C>T	CCDS34791.1																																																																																				0.438	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		5	90	0	0	0	1	0	5	90				
ZNF285	26974	broad.mit.edu	37	19	44891920	44891920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr19:44891920G>A	ENST00000330997.4	-	4	551	c.487C>T	c.(487-489)Cag>Tag	p.Q163*	ZNF285_ENST00000591679.1_Nonsense_Mutation_p.Q170*|ZNF285_ENST00000544719.2_Nonsense_Mutation_p.Q163*|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	163					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TATCTTCCCTGAGAGTTCTGG	0.453																																						ENST00000330997.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(487-489)Cag>Tag		zinc finger protein 285							83.0	84.0	83.0					19																	44891920		2202	4296	6498	SO:0001587	stop_gained	26974							g.chr19:44891920G>A	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.487C>T	19.37:g.44891920G>A	ENSP00000333595:p.Gln163*					CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Nonsense_Mutation_p.Q163*|ZNF285_ENST00000591679.1_Nonsense_Mutation_p.Q170*	p.Q163*	NM_152354.3	NP_689567.3					4	551	-								Q17RJ3|Q6B0A8|Q6ISR5	Nonsense_Mutation	SNP	ENST00000330997.4	37	c.487C>T	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.670669	0.67814	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	.	.	.	3.37	-1.18	0.09617	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	3.039	0.06132	0.4046:0.2293:0.3661:0.0	.	.	.	.	X	186;163	.	ENSP00000333595:Q163X	Q	-	1	0	ZNF285	49583760	0.828000	0.29307	0.000000	0.03702	0.186000	0.23388	0.621000	0.24418	-0.024000	0.13941	0.454000	0.30748	CAG		0.453	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		14	235	0	0	0	1	0	14	235				
PLXNB2	23654	broad.mit.edu	37	22	50722576	50722576	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr22:50722576C>T	ENST00000449103.1	-	13	2388	c.2248G>A	c.(2248-2250)Gac>Aac	p.D750N	PLXNB2_ENST00000496720.1_5'UTR|PLXNB2_ENST00000359337.4_Missense_Mutation_p.D750N			O15031	PLXB2_HUMAN	plexin B2	750					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGCTTGCTGTCGATATTCTTG	0.682																																						ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(2248-2250)Gac>Aac		plexin B2							46.0	49.0	48.0					22																	50722576		2054	4178	6232	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50722576C>T		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.2248G>A	22.37:g.50722576C>T	ENSP00000409171:p.Asp750Asn					PLXNB2_ENST00000496720.1_5'UTR|PLXNB2_ENST00000359337.4_Missense_Mutation_p.D750N	p.D750N			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	13	2388	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	750					A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.2248G>A	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	c	15.38	2.817603	0.50633	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.04275	3.66;3.66	4.39	4.39	0.52855	.	0.252628	0.30142	N	0.010304	T	0.07954	0.0199	M	0.81341	2.54	0.53005	D	0.99996	P	0.43750	0.816	B	0.34180	0.177	T	0.07947	-1.0746	10	0.52906	T	0.07	.	12.3468	0.55126	0.0:1.0:0.0:0.0	.	750	O15031	PLXB2_HUMAN	N	750	ENSP00000409171:D750N;ENSP00000352288:D750N	ENSP00000352288:D750N	D	-	1	0	PLXNB2	49064703	0.998000	0.40836	0.995000	0.50966	0.126000	0.20510	4.827000	0.62723	2.282000	0.76494	0.479000	0.44913	GAC		0.682	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		28	64	0	0	0	1	0	28	64				
F9	2158	broad.mit.edu	37	X	138643976	138643976	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chrX:138643976G>A	ENST00000218099.2	+	8	1139	c.1132G>A	c.(1132-1134)Gac>Aac	p.D378N	F9_ENST00000394090.2_Missense_Mutation_p.D340N	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	378	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	TCCACTTGTTGACCGAGCCAC	0.443																																						ENST00000218099.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	GRCh37	CM940659	F9	M		c.(1132-1134)Gac>Aac		coagulation factor IX	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						114.0	98.0	104.0					X																	138643976		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138643976G>A	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.1132G>A	X.37:g.138643976G>A	ENSP00000218099:p.Asp378Asn					F9_ENST00000394090.2_Missense_Mutation_p.D340N	p.D378N	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN			8	1139	+	Acute lymphoblastic leukemia(192;0.000127)		378			Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.1132G>A	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961702	0.74016	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.93426	-3.22;-3.22	5.66	5.66	0.87406	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.044711	0.85682	D	0.000000	D	0.90882	0.7135	N	0.20530	0.585	0.52501	D	0.999957	P;B	0.52463	0.953;0.238	P;B	0.53593	0.73;0.102	D	0.90658	0.4588	10	0.46703	T	0.11	.	11.0951	0.48139	0.0857:0.0:0.9143:0.0	.	340;378	Q5FBE1;P00740	.;FA9_HUMAN	N	378;340	ENSP00000218099:D378N;ENSP00000377650:D340N	ENSP00000218099:D378N	D	+	1	0	F9	138471642	1.000000	0.71417	0.987000	0.45799	0.825000	0.46686	5.277000	0.65586	2.356000	0.79943	0.600000	0.82982	GAC		0.443	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			8	54	0	0	0	1	0	8	54				
POTEC	388468	broad.mit.edu	37	18	14542841	14542841	+	Missense_Mutation	SNP	C	C	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr18:14542841C>A	ENST00000358970.5	-	1	304	c.305G>T	c.(304-306)tGc>tTc	p.C102F	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	102										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GCAGTGACAGCACCACTTGCC	0.617																																						ENST00000358970.5																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(304-306)tGc>tTc		POTE ankyrin domain family, member C							33.0	41.0	39.0					18																	14542841		692	1591	2283	SO:0001583	missense	388468							g.chr18:14542841C>A	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.305G>T	18.37:g.14542841C>A	ENSP00000351856:p.Cys102Phe					POTEC_ENST00000389891.4_5'UTR	p.C102F	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	304	-			102						Missense_Mutation	SNP	ENST00000358970.5	37	c.305G>T	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	5.626	0.300224	0.10622	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.31510	1.49	0.15	0.15	0.14883	.	.	.	.	.	T	0.21674	0.0522	L	0.48642	1.525	0.09310	N	1	P	0.41748	0.761	B	0.35413	0.202	T	0.12553	-1.0543	8	0.56958	D	0.05	.	.	.	.	.	102	B2RU33	POTEC_HUMAN	F	102	ENSP00000351856:C102F	ENSP00000351856:C102F	C	-	2	0	POTEC	14532841	0.000000	0.05858	0.013000	0.15412	0.040000	0.13550	-0.364000	0.07583	0.194000	0.20326	0.197000	0.17608	TGC		0.617	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		57	271	1	0	1.4709e-25	1	1.69054e-25	57	271				
NRXN1	9378	broad.mit.edu	37	2	50850745	50850745	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:50850745C>A	ENST00000406316.2	-	6	2317	c.841G>T	c.(841-843)Gaa>Taa	p.E281*	NRXN1_ENST00000402717.3_Nonsense_Mutation_p.E281*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.E281*|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Nonsense_Mutation_p.E314*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.E281*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.E281*	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	281					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)			GCAATATATTCTTCTTTTCCT	0.358																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(940-942)Gaa>Taa		neurexin 1							72.0	67.0	68.0					2																	50850745		1868	4096	5964	SO:0001587	stop_gained	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50850745C>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.841G>T	2.37:g.50850745C>A	ENSP00000384311:p.Glu281*					NRXN1_ENST00000402717.3_Nonsense_Mutation_p.E281*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.E281*|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.E281*|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.E281*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.E281*	p.E314*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		7	2279	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	281			Laminin G-like 2.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Nonsense_Mutation	SNP	ENST00000406316.2	37	c.940G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	48	14.183388	0.99783	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.2231	0.93806	0.0:1.0:0.0:0.0	.	.	.	.	X	314;281;281;281;315;281;281	.	ENSP00000385017:E281X	E	-	1	0	NRXN1	50704249	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.776000	0.95493	0.650000	0.86243	GAA		0.358	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			15	35	1	0	1.49906e-05	1	1.61339e-05	15	35				
ANK3	288	broad.mit.edu	37	10	61898790	61898790	+	Silent	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr10:61898790C>T	ENST00000280772.2	-	24	2861	c.2670G>A	c.(2668-2670)aaG>aaA	p.K890K	ANK3_ENST00000355288.2_Silent_p.K24K|ANK3_ENST00000373827.2_Silent_p.K884K|ANK3_ENST00000460468.1_Silent_p.K54K|ANK3_ENST00000503366.1_Silent_p.K891K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	890					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CACCCAATTCCTTAAGGTCCT	0.483																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(2668-2670)aaG>aaA		ankyrin 3, node of Ranvier (ankyrin G)							187.0	165.0	173.0					10																	61898790		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61898790C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2670G>A	10.37:g.61898790C>T						ANK3_ENST00000503366.1_Silent_p.K891K|ANK3_ENST00000373827.2_Silent_p.K884K|ANK3_ENST00000460468.1_Silent_p.K54K|ANK3_ENST00000355288.2_Silent_p.K24K	p.K890K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			24	2861	-			890					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.2670G>A	CCDS7258.1																																																																																				0.483	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		35	110	0	0	0	1	0	35	110				
NCAPD3	23310	broad.mit.edu	37	11	134027841	134027841	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr11:134027841C>T	ENST00000534548.2	-	31	4220	c.4156G>A	c.(4156-4158)Gaa>Aaa	p.E1386K		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1386					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CACGTTTTTTCTGGGCTTCCA	0.443																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(4156-4158)Gaa>Aaa		non-SMC condensin II complex, subunit D3							210.0	215.0	213.0					11																	134027841		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134027841C>T	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.4156G>A	11.37:g.134027841C>T	ENSP00000433681:p.Glu1386Lys						p.E1386K	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	31	4220	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1386					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.4156G>A	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	7.936	0.741688	0.15642	.	.	ENSG00000151503	ENST00000534548	T	0.28069	1.63	5.07	5.07	0.68467	.	0.864012	0.10564	N	0.659934	T	0.26702	0.0653	N	0.25647	0.755	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.03184	-1.1063	10	0.48119	T	0.1	-6.0469	15.4852	0.75560	0.0:1.0:0.0:0.0	.	1386;446	P42695;Q96FA6	CNDD3_HUMAN;.	K	1386	ENSP00000433681:E1386K	ENSP00000433681:E1386K	E	-	1	0	NCAPD3	133533051	0.018000	0.18449	0.011000	0.14972	0.181000	0.23173	2.982000	0.49337	2.644000	0.89710	0.561000	0.74099	GAA		0.443	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		36	247	0	0	0	1	0	36	247				
PCDHA9	9752	broad.mit.edu	37	5	140229355	140229355	+	Silent	SNP	T	T	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr5:140229355T>G	ENST00000532602.1	+	1	2308	c.1275T>G	c.(1273-1275)gtT>gtG	p.V425V	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.V425V	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	425	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(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGGTGGTTACCGCGCGGG	0.637																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1273-1275)gtT>gtG									92.0	88.0	89.0					5																	140229355		2196	4272	6468	SO:0001819	synonymous_variant	9752							g.chr5:140229355T>G	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1275T>G	5.37:g.140229355T>G						PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.V425V|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron	p.V425V	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1999	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1275T>G	CCDS54920.1																																																																																				0.637	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		7	199	0	0	0	1	0	7	199				
SIDT1	54847	broad.mit.edu	37	3	113342480	113342480	+	Missense_Mutation	SNP	C	C	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr3:113342480C>G	ENST00000264852.4	+	23	2933	c.2207C>G	c.(2206-2208)tCt>tGt	p.S736C	SIDT1_ENST00000393830.3_Missense_Mutation_p.S741C|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	736					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CTCCGCAGCTCTGAAAAGGTC	0.642																																						ENST00000264852.4																			0				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(2206-2208)tCt>tGt		SID1 transmembrane family, member 1							106.0	108.0	108.0					3																	113342480		2203	4300	6503	SO:0001583	missense	54847					integral to membrane		g.chr3:113342480C>G	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.2207C>G	3.37:g.113342480C>G	ENSP00000264852:p.Ser736Cys					SIDT1_ENST00000393830.3_Missense_Mutation_p.S741C|SIDT1_ENST00000463226.1_3'UTR	p.S736C	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN			23	2933	+			736					Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.2207C>G	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.010985	0.54361	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.25579	1.79;1.79	5.7	4.82	0.62117	.	0.376531	0.26149	N	0.026042	T	0.38931	0.1059	L	0.43152	1.355	0.43226	D	0.995111	D;D	0.60160	0.983;0.987	P;P	0.58520	0.753;0.84	T	0.20042	-1.0287	10	0.62326	D	0.03	-3.8819	14.9913	0.71390	0.1441:0.8559:0.0:0.0	.	741;736	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	C	736;741	ENSP00000264852:S736C;ENSP00000377416:S741C	ENSP00000264852:S736C	S	+	2	0	SIDT1	114825170	0.058000	0.20735	0.877000	0.34402	0.168000	0.22595	1.268000	0.33062	1.404000	0.46819	0.561000	0.74099	TCT		0.642	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		10	250	0	0	0	1	0	10	250				
NINL	22981	broad.mit.edu	37	20	25472025	25472025	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr20:25472025C>A	ENST00000278886.6	-	11	1520	c.1447G>T	c.(1447-1449)Gag>Tag	p.E483*	NINL_ENST00000422516.1_Nonsense_Mutation_p.E483*	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	483					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						AGGCCAGCCTCCTCAGCCTGC	0.701																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(1447-1449)Gag>Tag		ninein-like							48.0	53.0	51.0					20																	25472025		2203	4300	6503	SO:0001587	stop_gained	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25472025C>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1447G>T	20.37:g.25472025C>A	ENSP00000278886:p.Glu483*					NINL_ENST00000422516.1_Nonsense_Mutation_p.E483*	p.E483*	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			11	1520	-			483					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Nonsense_Mutation	SNP	ENST00000278886.6	37	c.1447G>T	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	36	5.726416	0.96847	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	.	.	.	4.6	3.66	0.41972	.	0.160556	0.39985	N	0.001208	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-5.4849	8.5151	0.33242	0.0:0.8945:0.0:0.1055	.	.	.	.	X	483	.	ENSP00000278886:E483X	E	-	1	0	NINL	25420025	0.763000	0.28462	0.256000	0.24389	0.454000	0.32378	2.125000	0.42016	1.173000	0.42796	0.306000	0.20318	GAG		0.701	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		10	55	1	0	2.68362e-12	1	3.02951e-12	10	55				
STX17	55014	broad.mit.edu	37	9	102713369	102713369	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr9:102713369G>C	ENST00000259400.6	+	4	353	c.217G>C	c.(217-219)Gag>Cag	p.E73Q	STX17_ENST00000534052.1_Missense_Mutation_p.E73Q|STX17_ENST00000525640.1_Missense_Mutation_p.E73Q|STX17_ENST00000525847.1_3'UTR	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	73					autophagic vacuole fusion (GO:0000046)|endoplasmic reticulum-Golgi intermediate compartment organization (GO:0097111)|ER to Golgi vesicle-mediated transport (GO:0006888)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|protein localization to pre-autophagosomal structure (GO:0034497)	autophagic vacuole membrane (GO:0000421)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle (GO:0030134)|ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|smooth endoplasmic reticulum membrane (GO:0030868)|SNARE complex (GO:0031201)	protein phosphatase binding (GO:0019903)|SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CCGAGAAATTGAGAAACTTTG	0.333																																						ENST00000259400.6																			0				endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(217-219)Gag>Cag		syntaxin 17							62.0	62.0	62.0					9																	102713369		2203	4298	6501	SO:0001583	missense	55014				intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity	g.chr9:102713369G>C	AL834371	CCDS6745.1	9q31.1	2008-02-05			ENSG00000136874	ENSG00000136874			11432	protein-coding gene	gene with protein product		604204				9852078	Standard	NM_017919		Approved	FLJ20651	uc004bal.4	P56962	OTTHUMG00000020359	ENST00000259400.6:c.217G>C	9.37:g.102713369G>C	ENSP00000259400:p.Glu73Gln					STX17_ENST00000534052.1_Missense_Mutation_p.E73Q|STX17_ENST00000525847.1_3'UTR|STX17_ENST00000525640.1_Missense_Mutation_p.E73Q	p.E73Q	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN			4	353	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	73					Q4VXC2	Missense_Mutation	SNP	ENST00000259400.6	37	c.217G>C	CCDS6745.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653502	0.88056	.	.	ENSG00000136874	ENST00000259400;ENST00000525640;ENST00000534052	T;T;T	0.23552	1.9;1.9;1.9	5.86	5.86	0.93980	t-SNARE (1);	0.000000	0.85682	D	0.000000	T	0.48429	0.1499	L	0.59436	1.845	0.47905	D	0.999546	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.975	T	0.22103	-1.0226	10	0.42905	T	0.14	-19.2851	17.3383	0.87288	0.0:0.0:1.0:0.0	.	73;73	P56962;B4DJ69	STX17_HUMAN;.	Q	73	ENSP00000259400:E73Q;ENSP00000435981:E73Q;ENSP00000433484:E73Q	ENSP00000259400:E73Q	E	+	1	0	STX17	101753190	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.394000	0.73223	2.771000	0.95319	0.650000	0.86243	GAG		0.333	STX17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053398.3	NM_017919		16	55	0	0	0	1	0	16	55				
DHRS9	10170	broad.mit.edu	37	2	169952187	169952187	+	Silent	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:169952187C>T	ENST00000327239.4	+	8	2374	c.870C>T	c.(868-870)ttC>ttT	p.F290F	DHRS9_ENST00000436483.2_Silent_p.F290F|DHRS9_ENST00000421653.1_Silent_p.F143F|DHRS9_ENST00000357546.2_Silent_p.F290F|DHRS9_ENST00000602501.1_Silent_p.F290F|DHRS9_ENST00000432060.2_Silent_p.F350F|DHRS9_ENST00000428522.1_Silent_p.F290F|DHRS9_ENST00000412271.1_Silent_p.F290F	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	290					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						CCAAAATTTTCTGGATACCTC	0.468																																						ENST00000327239.4																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(868-870)ttC>ttT		dehydrogenase/reductase (SDR family) member 9							114.0	110.0	111.0					2																	169952187		2203	4300	6503	SO:0001819	synonymous_variant	10170				9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity	g.chr2:169952187C>T	AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	16888	protein-coding gene	gene with protein product	"""NADP-dependent retinol dehydrogenase/reductase"", ""3-alpha hydroxysteroid dehydrogenase"", ""retinol dehydrogenase homolog"", ""short chain dehydrogenase/reductase family 9C, member 4"""	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.870C>T	2.37:g.169952187C>T						DHRS9_ENST00000602501.1_Silent_p.F290F|DHRS9_ENST00000357546.2_Silent_p.F290F|DHRS9_ENST00000428522.1_Silent_p.F290F|DHRS9_ENST00000421653.1_Silent_p.F143F|DHRS9_ENST00000436483.2_Silent_p.F290F|DHRS9_ENST00000432060.2_Silent_p.F350F|DHRS9_ENST00000412271.1_Silent_p.F290F	p.F290F	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN			8	2374	+			290					B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Silent	SNP	ENST00000327239.4	37	c.870C>T	CCDS2231.1																																																																																				0.468	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3	NM_005771		8	173	0	0	0	1	0	8	173				
EVC	2121	broad.mit.edu	37	4	5785373	5785373	+	Missense_Mutation	SNP	A	A	T	rs140567069		TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr4:5785373A>T	ENST00000264956.6	+	12	1842	c.1658A>T	c.(1657-1659)gAg>gTg	p.E553V	EVC_ENST00000382674.2_Missense_Mutation_p.E553V	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	553					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CCCCCGGAAGAGTGTGACTAC	0.587																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(1657-1659)gAg>gTg		Ellis van Creveld syndrome							88.0	81.0	83.0					4																	5785373		2203	4300	6503	SO:0001583	missense	2121				muscle organ development	integral to membrane		g.chr4:5785373A>T	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1658A>T	4.37:g.5785373A>T	ENSP00000264956:p.Glu553Val					EVC_ENST00000264956.6_Missense_Mutation_p.E553V	p.E553V			P57679	EVC_HUMAN			12	1842	+		Myeloproliferative disorder(84;0.117)	553						Missense_Mutation	SNP	ENST00000264956.6	37	c.1658A>T	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	A	12.83	2.055943	0.36277	.	.	ENSG00000072840	ENST00000264956;ENST00000382674	T;T	0.56776	0.44;0.44	4.94	4.94	0.65067	.	0.402050	0.26190	N	0.025818	T	0.67524	0.2902	M	0.66939	2.045	0.51233	D	0.999915	D	0.76494	0.999	D	0.69479	0.964	T	0.70666	-0.4809	10	0.72032	D	0.01	.	10.9794	0.47486	1.0:0.0:0.0:0.0	.	553	P57679	EVC_HUMAN	V	553	ENSP00000264956:E553V;ENSP00000372120:E553V	ENSP00000264956:E553V	E	+	2	0	EVC	5836274	0.999000	0.42202	0.025000	0.17156	0.003000	0.03518	4.286000	0.58995	1.865000	0.54081	0.455000	0.32223	GAG		0.587	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			9	48	0	0	0	1	0	9	48				
IKBIP	121457	broad.mit.edu	37	12	99019911	99019911	+	Intron	SNP	T	T	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr12:99019911T>A	ENST00000342502.2	-	2	709				IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000299157.4_Missense_Mutation_p.M311L	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein						response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						GCTTTCAGCATATCATCTTCC	0.348																																						ENST00000299157.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						c.(931-933)Atg>Ttg		IKBKB interacting protein							82.0	78.0	79.0					12																	99019911		2203	4298	6501	SO:0001627	intron_variant	121457				induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr12:99019911T>A	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.297+8162A>T	12.37:g.99019911T>A						IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron	p.M311L	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN			3	1304	-			312					Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	ENST00000342502.2	37	c.931A>T	CCDS9067.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.461821	0.26248	.	.	ENSG00000166130	ENST00000299157	T	0.39229	1.09	5.86	5.86	0.93980	.	0.265003	0.44483	N	0.000452	T	0.21921	0.0528	.	.	.	0.80722	D	1	B	0.31931	0.347	B	0.32465	0.146	T	0.12708	-1.0537	9	0.02654	T	1	-18.6074	11.349	0.49577	0.1354:0.0:0.0:0.8646	.	311	Q70UQ0-4	.	L	311	ENSP00000299157:M311L	ENSP00000299157:M311L	M	-	1	0	IKBIP	97544042	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.900000	0.56295	2.237000	0.73441	0.533000	0.62120	ATG		0.348	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		22	59	0	0	0	1	0	22	59				
ADAM9	8754	broad.mit.edu	37	8	38871556	38871556	+	Silent	SNP	T	T	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr8:38871556T>C	ENST00000487273.2	+	4	405	c.327T>C	c.(325-327)aaT>aaC	p.N109N	ADAM9_ENST00000481513.1_Silent_p.N109N|ADAM9_ENST00000466936.1_Silent_p.N109N	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	109				Missing (in Ref. 2; no nucleotide entry). {ECO:0000305}.	activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			ACCATCCCAATATACAGGTAA	0.328																																						ENST00000487273.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(325-327)aaT>aaC		ADAM metallopeptidase domain 9							114.0	115.0	115.0					8																	38871556		2203	4300	6503	SO:0001819	synonymous_variant	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38871556T>C	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.327T>C	8.37:g.38871556T>C						ADAM9_ENST00000481513.1_Silent_p.N109N|ADAM9_ENST00000466936.1_Silent_p.N109N	p.N109N	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		4	405	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	109	Missing (in Ref. 2; no nucleotide entry).				B7ZLN7|Q10718|Q8NFM6	Silent	SNP	ENST00000487273.2	37	c.327T>C	CCDS6112.1																																																																																				0.328	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			14	160	0	0	0	1	0	14	160				
SEC23A	10484	broad.mit.edu	37	14	39508284	39508284	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr14:39508284G>C	ENST00000307712.6	-	19	2676	c.2159C>G	c.(2158-2160)tCa>tGa	p.S720*	SEC23A_ENST00000536508.1_Nonsense_Mutation_p.S618*|SEC23A_ENST00000537403.1_Nonsense_Mutation_p.S518*|SEC23A_ENST00000545328.2_Nonsense_Mutation_p.S691*	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	720					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GTTGACTTTTGAAAGGAGGAA	0.328																																						ENST00000537403.1																			0				kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(1552-1554)tCa>tGa		Sec23 homolog A (S. cerevisiae)							66.0	68.0	67.0					14																	39508284		2203	4299	6502	SO:0001587	stop_gained	10484				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	g.chr14:39508284G>C	X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.2159C>G	14.37:g.39508284G>C	ENSP00000306881:p.Ser720*					SEC23A_ENST00000545328.2_Nonsense_Mutation_p.S691*|SEC23A_ENST00000536508.1_Nonsense_Mutation_p.S618*|SEC23A_ENST00000307712.6_Nonsense_Mutation_p.S720*	p.S518*			Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	15	2755	-	Hepatocellular(127;0.213)		720					B2R5P4|B3KXI2|Q8NE16	Nonsense_Mutation	SNP	ENST00000307712.6	37	c.1553C>G	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	G	43	10.050596	0.99325	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.6753	18.7798	0.91926	0.0:0.0:1.0:0.0	.	.	.	.	X	518;720;618;691	.	ENSP00000306881:S720X	S	-	2	0	SEC23A	38578035	1.000000	0.71417	0.998000	0.56505	0.403000	0.30841	9.568000	0.98166	2.610000	0.88304	0.650000	0.86243	TCA		0.328	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			10	147	0	0	0	1	0	10	147				
PDIA3	2923	broad.mit.edu	37	15	44053674	44053674	+	Silent	SNP	C	C	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr15:44053674C>G	ENST00000300289.5	+	4	565	c.417C>G	c.(415-417)ctC>ctG	p.L139L	PDIA3_ENST00000538521.1_Silent_p.L119L	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	139					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)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		CAGTGCCTCTCAGGACTGAGG	0.363																																						ENST00000300289.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17						c.(415-417)ctC>ctG		protein disulfide isomerase family A, member 3							55.0	61.0	59.0					15																	44053674		2198	4298	6496	SO:0001819	synonymous_variant	2923				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr15:44053674C>G		CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.417C>G	15.37:g.44053674C>G						PDIA3_ENST00000538521.1_Silent_p.L119L	p.L139L	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN		GBM - Glioblastoma multiforme(94;9.48e-07)	4	565	+		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	139					Q13453|Q14255|Q8IYF8|Q9UMU7	Silent	SNP	ENST00000300289.5	37	c.417C>G	CCDS10101.1																																																																																				0.363	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	NM_005313		3	63	0	0	0	1	0	3	63				
ZNF134	7693	broad.mit.edu	37	19	58131949	58131949	+	Missense_Mutation	SNP	C	C	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr19:58131949C>A	ENST00000396161.5	+	3	772	c.462C>A	c.(460-462)caC>caA	p.H154Q		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	154					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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		AGGCCATCCACAGTAAGAGGA	0.483																																						ENST00000396161.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11						c.(460-462)caC>caA		zinc finger protein 134							46.0	49.0	48.0					19																	58131949		2152	4284	6436	SO:0001583	missense	7693					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58131949C>A	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"""Zinc fingers, C2H2-type"""	12918	protein-coding gene	gene with protein product		604076	"""zinc finger protein 134 (clone pHZ-15)"""			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.462C>A	19.37:g.58131949C>A	ENSP00000379464:p.His154Gln						p.H154Q	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	772	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	154					Q9Y4B2	Missense_Mutation	SNP	ENST00000396161.5	37	c.462C>A	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	C	3.639	-0.074016	0.07184	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	T	0.50001	0.76	3.22	-3.79	0.04320	.	.	.	.	.	T	0.52256	0.1723	H	0.96398	3.815	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59461	-0.7450	9	0.87932	D	0	.	1.3735	0.02215	0.154:0.4481:0.1524:0.2455	.	154	P52741	ZN134_HUMAN	Q	221;74;154	ENSP00000379464:H154Q	ENSP00000379464:H154Q	H	+	3	2	ZNF134	62823761	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.135000	0.03225	-0.641000	0.05487	-1.275000	0.01399	CAC		0.483	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435		10	46	1	0	0.0692343	1	0.0700618	10	46				
BZRAP1	9256	broad.mit.edu	37	17	56388367	56388367	+	Missense_Mutation	SNP	C	C	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr17:56388367C>G	ENST00000343736.4	-	19	3452	c.3289G>C	c.(3289-3291)Gag>Cag	p.E1097Q	BZRAP1_ENST00000355701.3_Missense_Mutation_p.E1097Q|BZRAP1_ENST00000268893.6_Missense_Mutation_p.E1037Q			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1097	Pro-rich.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCTGGCCTCTGGGCTTGGG	0.701																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(3289-3291)Gag>Cag		benzodiazapine receptor (peripheral) associated protein 1							16.0	20.0	19.0					17																	56388367		2197	4292	6489	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56388367C>G	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.3289G>C	17.37:g.56388367C>G	ENSP00000345824:p.Glu1097Gln					BZRAP1_ENST00000343736.4_Missense_Mutation_p.E1097Q|BZRAP1_ENST00000268893.6_Missense_Mutation_p.E1037Q	p.E1097Q	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			19	4159	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1097			Pro-rich.		O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.3289G>C	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.063377	0.36373	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.39997	1.05;1.05;1.05	5.66	5.66	0.87406	.	0.382964	0.27739	N	0.018053	T	0.55337	0.1914	L	0.57536	1.79	0.27919	N	0.938325	D;D;P	0.71674	0.995;0.998;0.553	P;D;B	0.68353	0.829;0.957;0.091	T	0.49597	-0.8923	10	0.16896	T	0.51	.	12.2941	0.54836	0.0:0.9195:0.0:0.0805	.	1097;1037;1097	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	Q	1097;1097;1037	ENSP00000347929:E1097Q;ENSP00000345824:E1097Q;ENSP00000268893:E1037Q	ENSP00000268893:E1037Q	E	-	1	0	BZRAP1	53743366	0.989000	0.36119	0.971000	0.41717	0.932000	0.56968	3.159000	0.50731	2.657000	0.90304	0.563000	0.77884	GAG		0.701	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		7	9	0	0	0	1	0	7	9				
ZNF549	256051	broad.mit.edu	37	19	58049430	58049430	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr19:58049430G>A	ENST00000376233.3	+	4	1239	c.1058G>A	c.(1057-1059)aGa>aAa	p.R353K	ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.R340K|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATCAGCAGAGAATCCACACT	0.443																																						ENST00000376233.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1057-1059)aGa>aAa		zinc finger protein 549							83.0	79.0	81.0					19																	58049430		2203	4300	6503	SO:0001583	missense	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58049430G>A	AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.1058G>A	19.37:g.58049430G>A	ENSP00000365407:p.Arg353Lys					ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.R340K	p.R353K	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1239	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	353					B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	37	c.1058G>A	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259029	0.39896	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.18338	2.22;2.22	2.49	1.38	0.22167	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20129	0.0484	N	0.25647	0.755	0.23936	N	0.996418	D;P	0.63046	0.992;0.532	P;B	0.57620	0.824;0.376	T	0.16305	-1.0407	9	0.35671	T	0.21	.	8.9745	0.35928	0.0:0.0:0.7765:0.2235	.	353;340	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	K	340;353	ENSP00000240719:R340K;ENSP00000365407:R353K	ENSP00000240719:R340K	R	+	2	0	ZNF549	62741242	0.000000	0.05858	0.236000	0.24074	0.368000	0.29767	0.132000	0.15891	0.218000	0.20820	0.585000	0.79938	AGA		0.443	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		6	136	0	0	0	1	0	6	136				
SEMA3C	10512	broad.mit.edu	37	7	80447685	80447685	+	Missense_Mutation	SNP	T	T	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr7:80447685T>C	ENST00000265361.3	-	5	938	c.377A>G	c.(376-378)cAt>cGt	p.H126R	SEMA3C_ENST00000419255.2_Missense_Mutation_p.H126R|SEMA3C_ENST00000544525.1_Missense_Mutation_p.H144R|SEMA3C_ENST00000536800.1_Intron	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	126	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GACATACAAATGTGTGCGATT	0.388																																						ENST00000265361.3																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(376-378)cAt>cGt		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C							96.0	82.0	87.0					7																	80447685		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80447685T>C	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.377A>G	7.37:g.80447685T>C	ENSP00000265361:p.His126Arg					SEMA3C_ENST00000536800.1_Intron|SEMA3C_ENST00000544525.1_Missense_Mutation_p.H144R|SEMA3C_ENST00000419255.2_Missense_Mutation_p.H126R	p.H126R	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN			5	938	-			126			Sema.		B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.377A>G	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.195203	0.78902	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.10288	2.89;2.89;2.89	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.29355	0.0731	L	0.60957	1.885	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66602	0.934;0.945	T	0.00664	-1.1620	10	0.66056	D	0.02	.	16.2853	0.82717	0.0:0.0:0.0:1.0	.	144;126	F5H1Z7;Q99985	.;SEM3C_HUMAN	R	126;126;144	ENSP00000265361:H126R;ENSP00000411193:H126R;ENSP00000445649:H144R	ENSP00000265361:H126R	H	-	2	0	SEMA3C	80285621	1.000000	0.71417	0.359000	0.25824	0.688000	0.40055	7.678000	0.84035	2.236000	0.73375	0.528000	0.53228	CAT		0.388	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		5	96	0	0	0	1	0	5	96				
UBXN6	80700	broad.mit.edu	37	19	4445519	4445519	+	Silent	SNP	C	C	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr19:4445519C>A	ENST00000301281.6	-	11	1426	c.1302G>T	c.(1300-1302)ctG>ctT	p.L434L	MIR4746_ENST00000579802.1_RNA|UBXN6_ENST00000394765.3_Silent_p.L381L|CTB-50L17.7_ENST00000588798.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	434						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CGATGGCTGACAGGAGCTCGG	0.627																																						ENST00000301281.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(1300-1302)ctG>ctT		UBX domain protein 6							114.0	116.0	116.0					19																	4445519		2203	4300	6503	SO:0001819	synonymous_variant	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4445519C>A	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.1302G>T	19.37:g.4445519C>A						UBXN6_ENST00000394765.3_Silent_p.L381L	p.L434L	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN			11	1426	-			434					D6W626|Q96AH1|Q96IK9|Q9BZV0	Silent	SNP	ENST00000301281.6	37	c.1302G>T	CCDS12129.1																																																																																				0.627	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		8	175	1	0	0.0477658	1	0.04853	8	175				
OSBP2	23762	broad.mit.edu	37	22	31302302	31302302	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr22:31302302G>A	ENST00000332585.6	+	14	2831	c.2727G>A	c.(2725-2727)tgG>tgA	p.W909*	OSBP2_ENST00000382310.3_3'UTR|OSBP2_ENST00000407373.1_Nonsense_Mutation_p.W736*|OSBP2_ENST00000401475.1_Nonsense_Mutation_p.W542*|OSBP2_ENST00000446658.2_Nonsense_Mutation_p.W908*|OSBP2_ENST00000437268.2_Nonsense_Mutation_p.W652*|OSBP2_ENST00000535268.1_Nonsense_Mutation_p.W453*|OSBP2_ENST00000403222.3_Nonsense_Mutation_p.W743*	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	909					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						AGCAAGACTGGCATATGTGCC	0.557																																						ENST00000332585.6																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(2725-2727)tgG>tgA		oxysterol binding protein 2							85.0	101.0	96.0					22																	31302302		2137	4244	6381	SO:0001587	stop_gained	23762				lipid transport	membrane	lipid binding	g.chr22:31302302G>A		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.2727G>A	22.37:g.31302302G>A	ENSP00000332576:p.Trp909*					OSBP2_ENST00000401475.1_Nonsense_Mutation_p.W542*|OSBP2_ENST00000437268.2_Nonsense_Mutation_p.W652*|OSBP2_ENST00000446658.2_Nonsense_Mutation_p.W908*|OSBP2_ENST00000403222.3_Nonsense_Mutation_p.W743*|OSBP2_ENST00000382310.3_3'UTR|OSBP2_ENST00000535268.1_Nonsense_Mutation_p.W453*|OSBP2_ENST00000407373.1_Nonsense_Mutation_p.W736*	p.W909*	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN			14	2831	+			909					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Nonsense_Mutation	SNP	ENST00000332585.6	37	c.2727G>A	CCDS43002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.094493|5.094493	0.94149|0.94149	.|.	.|.	ENSG00000184792|ENSG00000184792	ENST00000431368|ENST00000403222;ENST00000407373;ENST00000332585;ENST00000446658;ENST00000401475;ENST00000437268;ENST00000535268	.|.	.|.	.|.	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.45397|.	0.1340|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34403|.	-0.9830|.	4|.	.|0.02654	.|T	.|1	-13.2112|-13.2112	17.5484|17.5484	0.87869|0.87869	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	581|743;736;909;908;542;652;453	.|.	.|ENSP00000332576:W909X	G|W	+|+	2|3	0|0	OSBP2|OSBP2	29632302|29632302	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.330000|9.330000	0.96422|0.96422	2.467000|2.467000	0.83353|0.83353	0.555000|0.555000	0.69702|0.69702	GGC|TGG		0.557	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		4	128	0	0	0	1	0	4	128				
CEP350	9857	broad.mit.edu	37	1	180022217	180022217	+	Silent	SNP	A	A	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr1:180022217A>G	ENST00000367607.3	+	23	5323	c.4905A>G	c.(4903-4905)agA>agG	p.R1635R		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1635					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GTCACCGCAGATTTAACATGG	0.368																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(4903-4905)agA>agG		centrosomal protein 350kDa							80.0	80.0	80.0					1																	180022217		2203	4300	6503	SO:0001819	synonymous_variant	9857					centrosome|nucleus|spindle		g.chr1:180022217A>G	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.4905A>G	1.37:g.180022217A>G							p.R1635R	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			23	5323	+			1635					O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	c.4905A>G	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	A	10.54	1.378340	0.24944	.	.	ENSG00000135837	ENST00000418229	.	.	.	5.62	3.17	0.36434	.	.	.	.	.	T	0.52948	0.1766	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47497	-0.9113	4	.	.	.	.	5.3017	0.15781	0.7205:0.0:0.1468:0.1327	.	.	.	.	V	275	.	.	I	+	1	0	CEP350	178288840	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.091000	0.30915	1.069000	0.40788	0.528000	0.53228	ATT		0.368	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		13	79	0	0	0	1	0	13	79				
OR2J3	442186	broad.mit.edu	37	6	29080141	29080141	+	Missense_Mutation	SNP	C	C	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr6:29080141C>G	ENST00000377169.1	+	1	474	c.474C>G	c.(472-474)aaC>aaG	p.N158K		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GTTTTACCAACTCAGCACTTC	0.493																																						ENST00000377169.1																			0				endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(472-474)aaC>aaG		olfactory receptor, family 2, subfamily J, member 3							230.0	247.0	241.0					6																	29080141		1350	2596	3946	SO:0001583	missense	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29080141C>G		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.474C>G	6.37:g.29080141C>G	ENSP00000366374:p.Asn158Lys						p.N158K	NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN			1	474	+			158					B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	c.474C>G	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	C	8.077	0.771607	0.16051	.	.	ENSG00000204701	ENST00000377169	T	0.37411	1.2	2.78	0.887	0.19200	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.23410	0.0566	M	0.88450	2.955	0.09310	N	1	B	0.12630	0.006	B	0.23419	0.046	T	0.41980	-0.9478	9	0.72032	D	0.01	.	4.2201	0.10554	0.0:0.492:0.0:0.508	.	158	O76001	OR2J3_HUMAN	K	158	ENSP00000366374:N158K	ENSP00000366374:N158K	N	+	3	2	OR2J3	29188120	0.000000	0.05858	0.996000	0.52242	0.731000	0.41821	-1.831000	0.01698	0.486000	0.27676	0.436000	0.28706	AAC		0.493	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			10	207	0	0	0	1	0	10	207				
INO80D	54891	broad.mit.edu	37	2	206869117	206869117	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:206869117G>C	ENST00000403263.1	-	11	3463	c.3059C>G	c.(3058-3060)tCt>tGt	p.S1020C		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	0					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						AAAGGGAGAAGATGCATTATT	0.522																																						ENST00000403263.1																			0				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						c.(3058-3060)tCt>tGt		INO80 complex subunit D							51.0	52.0	51.0					2																	206869117		2024	4183	6207	SO:0001583	missense	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206869117G>C		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.3059C>G	2.37:g.206869117G>C	ENSP00000384198:p.Ser1020Cys						p.S1020C	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN			11	3463	-			0					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	c.3059C>G	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266888	0.59540	.	.	ENSG00000114933	ENST00000403263	T	0.35236	1.32	5.47	5.47	0.80525	.	.	.	.	.	T	0.27594	0.0678	N	0.14661	0.345	0.35619	D	0.809301	P	0.37276	0.589	B	0.39379	0.298	T	0.43048	-0.9415	9	0.87932	D	0	.	14.5852	0.68320	0.0722:0.0:0.9278:0.0	.	1020	Q53TQ3-2	.	C	1020	ENSP00000384198:S1020C	ENSP00000384198:S1020C	S	-	2	0	INO80D	206577362	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.904000	0.92590	2.554000	0.86153	0.655000	0.94253	TCT		0.522	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		4	10	0	0	0	1	0	4	10				
PEX5L	51555	broad.mit.edu	37	3	179592146	179592146	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr3:179592146G>A	ENST00000467460.1	-	7	1025	c.695C>T	c.(694-696)gCt>gTt	p.A232V	PEX5L_ENST00000465751.1_Missense_Mutation_p.A208V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A173V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A124V|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000392649.3_Missense_Mutation_p.A124V|PEX5L_ENST00000476138.1_Missense_Mutation_p.A189V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A197V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A230V|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.A40V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	232					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CAATTCTGAAGCCGACTCAGA	0.393																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(694-696)gCt>gTt		peroxisomal biogenesis factor 5-like							103.0	101.0	101.0					3																	179592146		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179592146G>A	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.695C>T	3.37:g.179592146G>A	ENSP00000419975:p.Ala232Val					PEX5L_ENST00000472994.1_Missense_Mutation_p.A173V|PEX5L_ENST00000468741.1_Missense_Mutation_p.A40V|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.A208V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A124V|PEX5L_ENST00000392649.3_Missense_Mutation_p.A124V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A230V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A197V|PEX5L_ENST00000476138.1_Missense_Mutation_p.A189V	p.A232V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		7	1025	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		232					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.695C>T	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975104	0.34848	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000496721	D;D;D;D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.26;-2.24;-2.24;-2.26;-2.27;-2.24;-2.27	5.55	4.66	0.58398	.	0.448650	0.24942	N	0.034377	T	0.74673	0.3747	N	0.08118	0	0.22081	N	0.999371	B;B;B;B;B;B	0.25904	0.049;0.02;0.0;0.082;0.137;0.02	B;B;B;B;B;B	0.21546	0.016;0.011;0.001;0.035;0.035;0.01	T	0.65100	-0.6250	10	0.39692	T	0.17	-2.5038	13.3172	0.60413	0.0744:0.0:0.9256:0.0	.	173;208;124;230;197;232	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	V	232;230;197;230;124;40;189;120;173;124;208;40	ENSP00000419975:A232V;ENSP00000263962:A230V;ENSP00000418440:A197V;ENSP00000376420:A124V;ENSP00000418665:A40V;ENSP00000420555:A189V;ENSP00000418054:A173V;ENSP00000417270:A124V;ENSP00000419348:A208V	ENSP00000263962:A230V	A	-	2	0	PEX5L	181074840	0.992000	0.36948	0.095000	0.20976	0.592000	0.36648	4.313000	0.59160	1.458000	0.47871	0.650000	0.86243	GCT		0.393	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		33	115	0	0	0	1	0	33	115				
LRRC8D	55144	broad.mit.edu	37	1	90399031	90399031	+	Missense_Mutation	SNP	C	C	G			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr1:90399031C>G	ENST00000337338.5	+	3	811	c.404C>G	c.(403-405)aCa>aGa	p.T135R	LRRC8D_ENST00000394593.3_Missense_Mutation_p.T135R	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	135					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AAAGATCCAACAGGTCGAAAA	0.408																																						ENST00000337338.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29						c.(403-405)aCa>aGa		leucine rich repeat containing 8 family, member D							63.0	63.0	63.0					1																	90399031		2203	4300	6503	SO:0001583	missense	55144					integral to membrane	protein binding	g.chr1:90399031C>G	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.404C>G	1.37:g.90399031C>G	ENSP00000338887:p.Thr135Arg					LRRC8D_ENST00000394593.3_Missense_Mutation_p.T135R	p.T135R	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	811	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	135					D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	ENST00000337338.5	37	c.404C>G	CCDS726.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.436997	0.25900	.	.	ENSG00000171492	ENST00000337338;ENST00000394593;ENST00000527156;ENST00000441269	T;T;T	0.44083	1.53;1.53;0.93	6.07	4.21	0.49690	.	0.247787	0.38605	N	0.001623	T	0.07188	0.0182	N	0.08118	0	0.23421	N	0.997715	B	0.02656	0.0	B	0.06405	0.002	T	0.33085	-0.9882	9	.	.	.	.	7.7525	0.28904	0.0:0.597:0.2682:0.1348	.	135	Q7L1W4	LRC8D_HUMAN	R	135	ENSP00000338887:T135R;ENSP00000378093:T135R;ENSP00000405784:T135R	.	T	+	2	0	LRRC8D	90171619	0.027000	0.19231	0.997000	0.53966	0.989000	0.77384	0.453000	0.21811	0.898000	0.36418	0.655000	0.94253	ACA		0.408	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		5	71	0	0	0	1	0	5	71				
KCNJ12	3768	broad.mit.edu	37	17	21319683	21319683	+	Silent	SNP	G	G	A	rs111482429	byFrequency	TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr17:21319683G>A	ENST00000583088.1	+	3	1924	c.1029G>A	c.(1027-1029)tcG>tcA	p.S343S	KCNJ12_ENST00000331718.5_Silent_p.S343S	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	343				S -> L (in Ref. 2; AAC50615). {ECO:0000305}.	muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.S343S(2)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TTGACTACTCGCACTTCCACA	0.582										Prostate(3;0.18)																												ENST00000583088.1																			2	Substitution - coding silent(2)	p.S343S(2)	large_intestine(1)|lung(1)	NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(1027-1029)tcG>tcA		potassium inwardly-rectifying channel, subfamily J, member 12		G		1,4405	2.1+/-5.4	0,1,2202	154.0	153.0	153.0		1029	-5.5	1.0	17	dbSNP_132	153	0,8600		0,0,4300	no	coding-synonymous	KCNJ12	NM_021012.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		343/434	21319683	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3768							g.chr17:21319683G>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1029G>A	17.37:g.21319683G>A		Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Silent_p.S343S	p.S343S	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1924	+								O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	c.1029G>A	CCDS11219.1																																																																																				0.582	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		29	237	0	0	0	1	0	29	237				
C17orf70	80233	broad.mit.edu	37	17	79517412	79517412	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr17:79517412C>T	ENST00000327787.8	-	3	1154	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N	C17orf70_ENST00000537152.1_Missense_Mutation_p.D219N|C17orf70_ENST00000425898.2_5'Flank			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	370					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CGAGACAGATCCACCACACAG	0.692																																						ENST00000537152.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(655-657)Gat>Aat		chromosome 17 open reading frame 70							45.0	52.0	50.0					17																	79517412		2203	4298	6501	SO:0001583	missense	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79517412C>T	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.1108G>A	17.37:g.79517412C>T	ENSP00000333283:p.Asp370Asn					C17orf70_ENST00000327787.8_Missense_Mutation_p.D370N	p.D219N	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		3	1180	-	all_neural(118;0.0878)|Melanoma(429;0.242)		370					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	ENST00000327787.8	37	c.655G>A	CCDS32765.2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004808	0.74932	.	.	ENSG00000185504	ENST00000327787;ENST00000537152;ENST00000541246;ENST00000544302	T;T	0.37235	2.97;1.21	4.71	3.67	0.42095	.	0.204783	0.39407	N	0.001366	T	0.48484	0.1502	M	0.67953	2.075	0.36035	D	0.839664	D	0.57257	0.979	P	0.56563	0.801	T	0.59478	-0.7447	10	0.46703	T	0.11	.	10.8409	0.46715	0.1888:0.8112:0.0:0.0	.	370	Q0VG06	FP100_HUMAN	N	370;219;219;219	ENSP00000333283:D370N;ENSP00000440151:D219N	ENSP00000333283:D370N	D	-	1	0	C17orf70	77127854	0.605000	0.26941	0.841000	0.33234	0.563000	0.35712	0.472000	0.22116	2.139000	0.66308	0.655000	0.94253	GAT		0.692	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		41	60	0	0	0	1	0	41	60				
ABCA12	26154	broad.mit.edu	37	2	215818734	215818734	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr2:215818734G>A	ENST00000272895.7	-	44	6710	c.6491C>T	c.(6490-6492)tCg>tTg	p.S2164L	ABCA12_ENST00000389661.4_Missense_Mutation_p.S1846L|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2164					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTCTAGGACCGACTGTTGTTG	0.398																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(6490-6492)tCg>tTg		ATP-binding cassette, sub-family A (ABC1), member 12							111.0	111.0	111.0					2																	215818734		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215818734G>A	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6491C>T	2.37:g.215818734G>A	ENSP00000272895:p.Ser2164Leu					ABCA12_ENST00000389661.4_Missense_Mutation_p.S1846L|AC072062.1_ENST00000607412.1_RNA	p.S2164L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	44	6710	-		Renal(323;0.127)	2164					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.6491C>T	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070521	0.55539	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.83335	-1.71;-1.71	5.97	5.97	0.96955	.	0.295773	0.24472	N	0.038240	T	0.78298	0.4261	L	0.34521	1.04	0.80722	D	1	B;B	0.26258	0.145;0.024	B;B	0.27796	0.083;0.017	T	0.71151	-0.4676	10	0.23891	T	0.37	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	2164;1846	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	L	2164;1846	ENSP00000272895:S2164L;ENSP00000374312:S1846L	ENSP00000272895:S2164L	S	-	2	0	ABCA12	215526979	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	6.937000	0.75898	2.836000	0.97738	0.655000	0.94253	TCG		0.398	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		31	78	0	0	0	1	0	31	78				
MARK4	57787	broad.mit.edu	37	19	45797632	45797632	+	Missense_Mutation	SNP	C	C	T	rs201397444		TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr19:45797632C>T	ENST00000262891.4	+	14	1851	c.1520C>T	c.(1519-1521)aCc>aTc	p.T507I	MARK4_ENST00000300843.4_Missense_Mutation_p.T507I	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	507					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGCATGATGACCCGCAGAAAC	0.587																																						ENST00000300843.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1519-1521)aCc>aTc		MAP/microtubule affinity-regulating kinase 4							78.0	56.0	64.0					19																	45797632		2203	4300	6503	SO:0001583	missense	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45797632C>T	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1520C>T	19.37:g.45797632C>T	ENSP00000262891:p.Thr507Ile					MARK4_ENST00000262891.4_Missense_Mutation_p.T507I	p.T507I	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	14	1817	+		all_neural(266;0.224)|Ovarian(192;0.231)	507					Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	c.1520C>T	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241591	0.58995	.	.	ENSG00000007047	ENST00000262891;ENST00000300843	T;T	0.73047	-0.67;-0.71	4.47	4.47	0.54385	.	0.067598	0.56097	D	0.000025	T	0.79885	0.4523	M	0.64997	1.995	0.53005	D	0.999968	D;D	0.76494	0.994;0.999	P;D	0.80764	0.796;0.994	T	0.80652	-0.1287	10	0.59425	D	0.04	.	10.5172	0.44896	0.0:0.8032:0.1968:0.0	.	507;507	Q96L34;Q96L34-2	MARK4_HUMAN;.	I	507	ENSP00000262891:T507I;ENSP00000300843:T507I	ENSP00000262891:T507I	T	+	2	0	MARK4	50489472	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.956000	0.63645	2.313000	0.78055	0.655000	0.94253	ACC		0.587	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		20	69	0	0	0	1	0	20	69				
PCK1	5105	broad.mit.edu	37	20	56137247	56137247	+	Silent	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr20:56137247C>T	ENST00000319441.4	+	3	509	c.345C>T	c.(343-345)cgC>cgT	p.R115R	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	115					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AGCTCGGTCGCTGGATGTCAG	0.527																																						ENST00000319441.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34						c.(343-345)cgC>cgT		phosphoenolpyruvate carboxykinase 1 (soluble)							77.0	72.0	74.0					20																	56137247		2203	4300	6503	SO:0001819	synonymous_variant	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56137247C>T		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.345C>T	20.37:g.56137247C>T						PCK1_ENST00000535860.1_Intron|PCK1_ENST00000543666.1_Intron	p.R115R	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		3	509	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		115					A8K437|B4DT64|Q8TCA3|Q9UJD2	Silent	SNP	ENST00000319441.4	37	c.345C>T	CCDS13460.1																																																																																				0.527	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			7	54	0	0	0	1	0	7	54				
WNK3	65267	broad.mit.edu	37	X	54276531	54276531	+	Missense_Mutation	SNP	C	C	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chrX:54276531C>A	ENST00000375159.2	-	15	2608	c.2609G>T	c.(2608-2610)cGg>cTg	p.R870L	WNK3_ENST00000375169.3_Missense_Mutation_p.R870L|WNK3_ENST00000354646.2_Missense_Mutation_p.R870L			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	870					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GAATCGCCACCGACCAACTGG	0.418																																						ENST00000354646.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2608-2610)cGg>cTg		WNK lysine deficient protein kinase 3							45.0	38.0	41.0					X																	54276531		2203	4299	6502	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54276531C>A	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.2609G>T	X.37:g.54276531C>A	ENSP00000364301:p.Arg870Leu					WNK3_ENST00000375159.2_Missense_Mutation_p.R870L|WNK3_ENST00000375169.3_Missense_Mutation_p.R870L	p.R870L	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			16	3047	-			870					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.2609G>T	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513907	0.85389	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.29917	1.55;1.55;1.55	5.5	5.5	0.81552	.	0.000000	0.52532	D	0.000068	T	0.37461	0.1004	L	0.32530	0.975	0.47341	D	0.999394	P;P	0.48016	0.904;0.845	P;P	0.51582	0.674;0.474	T	0.11084	-1.0602	10	0.54805	T	0.06	-10.1291	17.1006	0.86648	0.0:1.0:0.0:0.0	.	870;870	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	L	870	ENSP00000364312:R870L;ENSP00000346667:R870L;ENSP00000364301:R870L	ENSP00000346667:R870L	R	-	2	0	WNK3	54293256	1.000000	0.71417	0.965000	0.40720	0.898000	0.52572	6.294000	0.72738	2.302000	0.77476	0.506000	0.49869	CGG		0.418	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		6	7	1	0	0.217242	1	0.217242	6	7				
ZFAT	57623	broad.mit.edu	37	8	135621016	135621016	+	Silent	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr8:135621016G>A	ENST00000377838.3	-	5	915	c.741C>T	c.(739-741)taC>taT	p.Y247Y	ZFAT_ENST00000520356.1_Silent_p.Y235Y|ZFAT_ENST00000523399.1_Silent_p.Y185Y|ZFAT_ENST00000520727.1_Silent_p.Y235Y|ZFAT_ENST00000429442.2_Silent_p.Y235Y|ZFAT_ENST00000520214.1_Silent_p.Y235Y	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	247					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GCTGAATGGCGTATTCCTGGT	0.507																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(703-705)taC>taT		zinc finger and AT hook domain containing							124.0	120.0	121.0					8																	135621016		1956	4154	6110	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135621016G>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.741C>T	8.37:g.135621016G>A						ZFAT_ENST00000523399.1_Silent_p.Y185Y|ZFAT_ENST00000520214.1_Silent_p.Y235Y|ZFAT_ENST00000377838.3_Silent_p.Y247Y|ZFAT_ENST00000520356.1_Silent_p.Y235Y|ZFAT_ENST00000429442.2_Silent_p.Y235Y	p.Y235Y	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		6	1004	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		247					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.705C>T	CCDS47924.1																																																																																				0.507	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		44	119	0	0	0	1	0	44	119				
IRAK1	3654	broad.mit.edu	37	X	153284056	153284056	+	Silent	SNP	C	C	T			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chrX:153284056C>T	ENST00000369980.3	-	5	890	c.723G>A	c.(721-723)ctG>ctA	p.L241L	IRAK1_ENST00000429936.2_Silent_p.L267L|MIR718_ENST00000390190.2_RNA|IRAK1_ENST00000393687.2_Silent_p.L241L|IRAK1_ENST00000369974.2_Silent_p.L241L|IRAK1_ENST00000393682.1_Silent_p.L267L|IRAK1_ENST00000477274.1_5'UTR	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	241	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|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 NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCACCTCCTTCAGCCTCTTCA	0.602																																						ENST00000369980.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25						c.(721-723)ctG>ctA		interleukin-1 receptor-associated kinase 1							185.0	159.0	168.0					X																	153284056		2203	4300	6503	SO:0001819	synonymous_variant	3654				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|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 transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity	g.chrX:153284056C>T	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.723G>A	X.37:g.153284056C>T						IRAK1_ENST00000393687.2_Silent_p.L241L|IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000369974.2_Silent_p.L241L|IRAK1_ENST00000429936.2_Silent_p.L267L|IRAK1_ENST00000393682.1_Silent_p.L267L	p.L241L	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN			5	890	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		241			Protein kinase.		D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Silent	SNP	ENST00000369980.3	37	c.723G>A	CCDS14740.1	.	.	.	.	.	.	.	.	.	.	.	11.61	1.690484	0.29962	.	.	ENSG00000184216	ENST00000443220	.	.	.	4.57	0.0578	0.14325	.	.	.	.	.	T	0.58293	0.2112	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53027	-0.8496	4	.	.	.	-12.6562	10.8519	0.46775	0.0:0.4672:0.4442:0.0886	.	.	.	.	K	12	.	.	E	-	1	0	IRAK1	152937250	0.821000	0.29204	0.995000	0.50966	0.977000	0.68977	-0.183000	0.09712	-0.050000	0.13356	0.529000	0.55759	GAA		0.602	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			25	90	0	0	0	1	0	25	90				
ZNF789	285989	broad.mit.edu	37	7	99084423	99084423	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr7:99084423G>C	ENST00000331410.5	+	5	860	c.590G>C	c.(589-591)aGa>aCa	p.R197T	ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	197					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)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ATTCTCACAAGAGCAAAGTCT	0.413																																						ENST00000331410.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11						c.(589-591)aGa>aCa		zinc finger protein 789							116.0	115.0	115.0					7																	99084423		2203	4300	6503	SO:0001583	missense	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99084423G>C	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.590G>C	7.37:g.99084423G>C	ENSP00000331927:p.Arg197Thr					ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000494186.1_Intron	p.R197T	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN			5	860	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		197					A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	ENST00000331410.5	37	c.590G>C	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.847493	0.51164	.	.	ENSG00000198556	ENST00000331410	T	0.15256	2.44	3.59	-2.65	0.06095	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14270	0.0345	L	0.54323	1.7	0.09310	N	1	B	0.25105	0.118	B	0.17098	0.017	T	0.30238	-0.9985	9	0.72032	D	0.01	.	6.5064	0.22198	0.1406:0.2913:0.5681:0.0	.	197	Q5FWF6	ZN789_HUMAN	T	197	ENSP00000331927:R197T	ENSP00000331927:R197T	R	+	2	0	ZNF789	98922359	0.000000	0.05858	0.000000	0.03702	0.796000	0.44982	0.566000	0.23593	-0.363000	0.08101	0.650000	0.86243	AGA		0.413	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		15	182	0	0	0	1	0	15	182				
MKRN1	23608	broad.mit.edu	37	7	140158912	140158912	+	Silent	SNP	G	G	A			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr7:140158912G>A	ENST00000255977.2	-	4	890	c.666C>T	c.(664-666)tgC>tgT	p.C222C	MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000443720.2_Silent_p.C222C|MKRN1_ENST00000481705.1_5'Flank|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000474576.1_Silent_p.C158C	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	222					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CCCCGTATCGGCACTCTCCCA	0.557																																						ENST00000255977.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16						c.(664-666)tgC>tgT		makorin ring finger protein 1							145.0	140.0	142.0					7																	140158912		2203	4300	6503	SO:0001819	synonymous_variant	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140158912G>A	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"""RING-type (C3HC4) zinc fingers"""	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.666C>T	7.37:g.140158912G>A						MKRN1_ENST00000443720.2_Silent_p.C222C|MKRN1_ENST00000474576.1_Silent_p.C158C|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000480552.1_Intron	p.C222C	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN			4	890	-	Melanoma(164;0.00956)		222					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Silent	SNP	ENST00000255977.2	37	c.666C>T	CCDS5860.1																																																																																				0.557	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		5	193	0	0	0	1	0	5	193				
ATP11B	23200	broad.mit.edu	37	3	182602674	182602674	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr3:182602674delT	ENST00000323116.5	+	22	2903	c.2643delT	c.(2641-2643)tatfs	p.Y881fs		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	881					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.Y884fs*30(1)		breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TTGTACAGTATTTTTTTTATA	0.269																																						ENST00000323116.5																			1	Deletion - Frameshift(1)	p.Y884fs*30(1)	large_intestine(1)	breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41						c.(2641-2643)tafs		ATPase, class VI, type 11B							60.0	64.0	63.0					3																	182602674		2202	4298	6500	SO:0001589	frameshift_variant	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182602674delT	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.2643delT	3.37:g.182602674delT	ENSP00000321195:p.Tyr881fs						p.Y881fs	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		22	2903	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		881					Q96FN1|Q9UKK7	Frame_Shift_Del	DEL	ENST00000323116.5	37	c.2643delT	CCDS33896.1																																																																																				0.269	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		8	183						8	183	---	---	---	---
OR2H1	26716	broad.mit.edu	37	6	29429951	29429951	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr6:29429951delC	ENST00000377136.1	+	4	870	c.405delC	c.(403-405)cacfs	p.H135fs	OR2H1_ENST00000377132.1_Frame_Shift_Del_p.H135fs|OR2H1_ENST00000442615.1_Frame_Shift_Del_p.H135fs|OR2H1_ENST00000377133.1_Frame_Shift_Del_p.H135fs|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000396792.2_Frame_Shift_Del_p.H135fs			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(12)	17						CCATCATCCACCCCCGCCTGT	0.597																																						ENST00000377136.1																			0				large_intestine(5)|lung(12)	17						c.(403-405)cafs		olfactory receptor, family 2, subfamily H, member 1							175.0	182.0	180.0					6																	29429951		1510	2708	4218	SO:0001589	frameshift_variant	26716				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29429951delC	AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"""GPCR / Class A : Olfactory receptors"""	8252	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily H, member 8"""	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.405delC	6.37:g.29429951delC	ENSP00000366340:p.His135fs					OR2H1_ENST00000396792.2_Frame_Shift_Del_p.H135fs|OR2H1_ENST00000442615.1_Frame_Shift_Del_p.H135fs|OR2H1_ENST00000377133.1_Frame_Shift_Del_p.H135fs|OR2H1_ENST00000377132.1_Frame_Shift_Del_p.H135fs|OR2H1_ENST00000473369.1_3'UTR	p.H135fs			Q9GZK4	OR2H1_HUMAN			4	870	+			135					B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Frame_Shift_Del	DEL	ENST00000377136.1	37	c.405delC	CCDS4660.1																																																																																				0.597	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194014.3			24	203						24	203	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132496061	132496063	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr12:132496061_132496063delTTG	ENST00000333577.4	+	17	3540_3542	c.3431_3433delTTG	c.(3430-3435)cttgtt>ctt	p.V1147del	EP400_ENST00000389562.2_In_Frame_Del_p.V1110del|EP400_ENST00000389561.2_In_Frame_Del_p.V1111del|EP400_ENST00000332482.4_In_Frame_Del_p.V1074del|EP400_ENST00000330386.6_In_Frame_Del_p.V1111del			Q96L91	EP400_HUMAN	E1A binding protein p400	1147	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interactions with RUVBL1 and RUVBL2.				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)	p.V1108L(1)		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)		GGCCCCCATCTTGTTGTTGTGAG	0.453																																						ENST00000333577.4																			1	Substitution - Missense(1)	p.V1108L(1)	endometrium(1)	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						c.(3430-3435)ctt>c		E1A binding protein p400																																				SO:0001651	inframe_deletion	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.chr12:132496061_132496063delTTG	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.3431_3433delTTG	12.37:g.132496067_132496069delTTG	ENSP00000333602:p.Val1147del					EP400_ENST00000389562.2_In_Frame_Del_p.LV1107del|EP400_ENST00000332482.4_In_Frame_Del_p.LV1071del|EP400_ENST00000330386.6_In_Frame_Del_p.LV1108del|EP400_ENST00000389561.2_In_Frame_Del_p.LV1108del	p.LV1144del			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	17	3540_3542	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1144			Helicase ATP-binding.|Interactions with RUVBL1 and RUVBL2.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Del	DEL	ENST00000333577.4	37	c.3431_3433delTTG																																																																																					0.453	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		9	132						9	132	---	---	---	---
EDNRB	1910	broad.mit.edu	37	13	78475267	78475267	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr13:78475267delA	ENST00000334286.5	-	4	1113	c.877delT	c.(877-879)tatfs	p.Y293fs	EDNRB_ENST00000446573.1_Frame_Shift_Del_p.Y293fs|EDNRB_ENST00000377211.4_Frame_Shift_Del_p.Y383fs	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	293					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)	p.Y293fs*3(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	ATTAGTGTATAAAAAAATGCA	0.343																																						ENST00000377211.4																			1	Deletion - Frameshift(1)	p.Y293fs*3(1)	lung(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42						c.(1147-1149)atfs		endothelin receptor type B	Bosentan(DB00559)						82.0	85.0	84.0					13																	78475267		2203	4300	6503	SO:0001589	frameshift_variant	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78475267delA	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.877delT	13.37:g.78475267delA	ENSP00000335311:p.Tyr293fs					EDNRB_ENST00000334286.5_Frame_Shift_Del_p.Y293fs|EDNRB_ENST00000446573.1_Frame_Shift_Del_p.Y293fs	p.Y383fs	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	5	1299	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	293		P -> L (in HSCR2; familial).			A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Frame_Shift_Del	DEL	ENST00000334286.5	37	c.1147delT	CCDS9461.1																																																																																				0.343	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			21	91						21	91	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577531	7577532	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr17:7577531_7577532delGG	ENST00000269305.4	-	7	938_939	c.749_750delCC	c.(748-750)cccfs	p.P250fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.P250fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P250fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.P250fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P250fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Del_p.P250fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	250	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250P(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250Q(2)|p.P250_L252delPIL(2)|p.P250_I251insXXXXXX(1)|p.N247_P250delNRRP(1)|p.P250_T253delPILT(1)|p.R249_I251delRPI(1)|p.R248_P250delRRP(1)|p.I251fs*13(1)|p.P250_I251insXXXXXXX(1)|p.I251fs*96(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_P250delRP(1)|p.P250_I251insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGTGAGGATGGGCCTCCGGTT	0.574		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		89	Substitution - Missense(56)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Substitution - coding silent(4)|Insertion - In frame(3)|Insertion - Frameshift(2)|Deletion - Frameshift(1)	p.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250P(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250Q(2)|p.P250_L252delPIL(2)|p.P250_I251insXXXXXX(1)|p.N247_P250delNRRP(1)|p.P250_T253delPILT(1)|p.R249_I251delRPI(1)|p.R248_P250delRRP(1)|p.I251fs*13(1)|p.P250_I251insXXXXXXX(1)|p.I251fs*96(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_P250delRP(1)|p.P250_I251insX(1)	large_intestine(15)|breast(12)|lung(11)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|upper_aerodigestive_tract(5)|biliary_tract(5)|ovary(5)|stomach(4)|central_nervous_system(4)|oesophagus(4)|bone(4)|liver(2)|urinary_tract(1)|eye(1)|genital_tract(1)|peritoneum(1)|pancreas(1)|thyroid(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM973401	TP53	M		c.(748-750)cfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577531_7577532delGG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.749_750delCC	17.37:g.7577531_7577532delGG	ENSP00000269305:p.Pro250fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Frame_Shift_Del_p.P250fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P250fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P250fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P250fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P250fs	p.P250fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	881_882	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	250		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.749_750delCC	CCDS11118.1																																																																																				0.574	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		51	53						51	53	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578250	7578250	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr17:7578250delT	ENST00000269305.4	-	6	788	c.599delA	c.(598-600)aatfs	p.N200fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.N200fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Frame_Shift_Del_p.N200fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	200	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(5)|p.N200fs*47(2)|p.N200I(2)|p.N200S(2)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.N200fs*9(1)|p.N200fs*8(1)|p.P191fs*6(1)|p.N200T(1)|p.G199fs*42(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CACACGCAAATTTCCTTCCAC	0.547		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		27	Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(6)|Substitution - Missense(5)|Insertion - Frameshift(1)|Complex - frameshift(1)	p.0?(8)|p.?(5)|p.N200fs*47(2)|p.N200I(2)|p.N200S(2)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.N200fs*9(1)|p.N200fs*8(1)|p.P191fs*6(1)|p.N200T(1)|p.G199fs*42(1)	biliary_tract(5)|central_nervous_system(4)|bone(4)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|skin(2)|upper_aerodigestive_tract(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(598-600)atfs	Other conserved DNA damage response genes	tumor protein p53							119.0	107.0	111.0					17																	7578250		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578250delT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.599delA	17.37:g.7578250delT	ENSP00000269305:p.Asn200fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.N200fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.N200fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.N200fs	p.N200fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	731	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	200		N -> D (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.599delA	CCDS11118.1																																																																																				0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	94						18	94	---	---	---	---
ZNF750	79755	broad.mit.edu	37	17	80789951	80789951	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr17:80789951delC	ENST00000269394.3	-	2	1213	c.380delG	c.(379-381)ggafs	p.G127fs	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	127					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGGCTTCTGTCCCAGGCACCT	0.642																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(379-381)gafs		zinc finger protein 750							34.0	37.0	36.0					17																	80789951		2203	4300	6503	SO:0001589	frameshift_variant	79755					intracellular	zinc ion binding	g.chr17:80789951delC	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.380delG	17.37:g.80789951delC	ENSP00000269394:p.Gly127fs					TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron	p.G127fs	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	1213	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	127					Q9H899	Frame_Shift_Del	DEL	ENST00000269394.3	37	c.380delG	CCDS11819.1																																																																																				0.642	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		12	54						12	54	---	---	---	---
LGALS16	148003	broad.mit.edu	37	19	40148570	40148570	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr19:40148570delA	ENST00000392051.3	+	2	131	c.63delA	c.(61-63)atafs	p.I22fs		NM_001190441.1	NP_001177370.1			lectin, galactoside-binding, soluble, 16																		CCTGCGTGATAATCAAAGGGA	0.483																																						ENST00000392051.3																			0											c.(61-63)atfs		lectin, galactoside-binding, soluble, 16																																				SO:0001589	frameshift_variant	148003						sugar binding	g.chr19:40148570delA		CCDS54267.1	19q13.2	2011-08-04			ENSG00000249861	ENSG00000249861		"""Lectins, galactoside-binding"""	40039	protein-coding gene	gene with protein product						19497882	Standard	NM_001190441		Approved		uc021uun.1	A8MUM7		ENST00000392051.3:c.63delA	19.37:g.40148570delA	ENSP00000375904:p.Ile22fs						p.I22fs	NM_001190441.1	NP_001177370.1	A8MUM7	A8MUM7_HUMAN			2	131	+			22						Frame_Shift_Del	DEL	ENST00000392051.3	37	c.63delA	CCDS54267.1																																																																																				0.483	LGALS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465022.1			29	108						29	108	---	---	---	---
OR11H1	81061	broad.mit.edu	37	22	16449803	16449805	+	Start_Codon_Del	DEL	ATT	ATT	-			TCGA-MZ-A7D7-01A-21D-A34J-08	TCGA-MZ-A7D7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	664738f6-61da-48fa-aa97-0f115384a71d	a4e20a0d-a705-4c7a-b83a-249ad1e46724	g.chr22:16449803_16449805delATT	ENST00000252835.4	-	0	0_2					NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		CAAGGGACACATTATCAGTCAGG	0.34																																						ENST00000252835.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11								olfactory receptor, family 11, subfamily H, member 1																																				SO:0001582	initiator_codon_variant	81061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr22:16449803_16449805delATT	AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"""GPCR / Class A : Olfactory receptors"""	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069		22.37:g.16449803_16449805delATT								NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)	0	0_2	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)						Q6IEX0|Q96R32	Translation_Start_Site	DEL	ENST00000252835.4	37		CCDS33594.1																																																																																				0.340	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074923.2	NM_001005239		9	57						9	57	---	---	---	---
