#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
XIRP2	129446	broad.mit.edu	37	2	168105389	168105389	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr2:168105389C>T	ENST00000409195.1	+	9	7576	c.7487C>T	c.(7486-7488)tCt>tTt	p.S2496F	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2496F|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2274F|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2321					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.S2496F(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCTATTGACTCTGCAAACTGT	0.398																																						ENST00000409195.1																			1	Substitution - Missense(1)	p.S2496F(1)	prostate(1)	NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(7486-7488)tCt>tTt		xin actin-binding repeat containing 2							83.0	79.0	80.0					2																	168105389		1895	4116	6011	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105389C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7487C>T	2.37:g.168105389C>T	ENSP00000386840:p.Ser2496Phe					XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2496F|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2274F|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	p.S2496F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	7576	+			2321					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.7487C>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216718	0.58452	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02737	4.18;4.18;4.18	5.52	5.52	0.82312	.	0.312135	0.30771	N	0.008905	T	0.12178	0.0296	M	0.63428	1.95	0.80722	D	1	D;D;D	0.71674	0.996;0.998;0.998	P;D;D	0.66847	0.887;0.947;0.947	T	0.00023	-1.2331	10	0.62326	D	0.03	-15.9405	14.8168	0.70041	0.0:1.0:0.0:0.0	.	2321;2321;2274	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	F	2496;2496;2274	ENSP00000386840:S2496F;ENSP00000295237:S2496F;ENSP00000387255:S2274F	ENSP00000295237:S2496F	S	+	2	0	XIRP2	167813635	0.001000	0.12720	0.260000	0.24451	0.340000	0.28889	1.252000	0.32874	2.875000	0.98604	0.643000	0.83706	TCT		0.398	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		9	172	0	0	0	0.307466	0	9	172				
ZNF462	58499	broad.mit.edu	37	9	109746677	109746677	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr9:109746677G>C	ENST00000277225.5	+	10	7332	c.7043G>C	c.(7042-7044)cGg>cCg	p.R2348P	ZNF462_ENST00000441147.2_Missense_Mutation_p.R1254P|ZNF462_ENST00000542028.1_Missense_Mutation_p.R305P|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000457913.1_Missense_Mutation_p.R2408P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2348					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R2348P(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGCCACCTTCGGGATGAGCAT	0.527																																						ENST00000277225.5																			1	Substitution - Missense(1)	p.R2348P(1)	prostate(1)	NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(7042-7044)cGg>cCg		zinc finger protein 462							93.0	85.0	88.0					9																	109746677		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109746677G>C	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.7043G>C	9.37:g.109746677G>C	ENSP00000277225:p.Arg2348Pro					ZNF462_ENST00000441147.2_Missense_Mutation_p.R1254P|ZNF462_ENST00000542028.1_Missense_Mutation_p.R305P|ZNF462_ENST00000457913.1_Missense_Mutation_p.R2408P|RP11-508N12.2_ENST00000439901.1_RNA	p.R2348P			Q96JM2	ZN462_HUMAN			10	7332	+			2348					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.7043G>C	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473653	0.84640	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147;ENST00000542028	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.70211	0.3198	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.70227	0.946;0.968	T	0.75622	-0.3254	10	0.87932	D	0	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	2408;2348	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	P	2348;2408;1291;1254;305	ENSP00000277225:R2348P;ENSP00000414570:R2408P;ENSP00000363818:R1291P;ENSP00000397306:R1254P;ENSP00000439771:R305P	ENSP00000277225:R2348P	R	+	2	0	ZNF462	108786498	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.263000	0.78421	2.854000	0.98071	0.655000	0.94253	CGG		0.527	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		20	104	0	0	0	0.575678	0	20	104				
HIST1H2BK	85236	broad.mit.edu	37	6	27114512	27114512	+	Silent	SNP	C	C	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr6:27114512C>T	ENST00000356950.1	-	1	65	c.66G>A	c.(64-66)gcG>gcA	p.A22A	HIST1H2AH_ENST00000377459.1_5'Flank|HIST1H2BK_ENST00000396891.4_Silent_p.A22A|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	22					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CCTTCTTCTGCGCCTTAGTCA	0.602																																						ENST00000396891.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(64-66)gcG>gcA		histone cluster 1, H2bk							164.0	136.0	146.0					6																	27114512		2203	4300	6503	SO:0001819	synonymous_variant	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114512C>T	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.66G>A	6.37:g.27114512C>T						HIST1H2BK_ENST00000356950.1_Silent_p.A22A	p.A22A	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN			1	107	-			22					A8K7P7|Q2VPI7	Silent	SNP	ENST00000356950.1	37	c.66G>A	CCDS4621.1																																																																																				0.602	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		4	291	0	0	0	0.150653	0	4	291				
FAM154A	158297	broad.mit.edu	37	9	18928742	18928742	+	Missense_Mutation	SNP	G	G	A	rs375442616		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr9:18928742G>A	ENST00000380534.4	-	4	1012	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	FAM154A_ENST00000542071.1_Missense_Mutation_p.R53W|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	245								p.R245W(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		ATCAGGCCCCGGTAGGATTGT	0.532																																						ENST00000380534.4																			1	Substitution - Missense(1)	p.R245W(1)	prostate(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26						c.(733-735)Cgg>Tgg		family with sequence similarity 154, member A							58.0	65.0	62.0					9																	18928742		2203	4300	6503	SO:0001583	missense	158297							g.chr9:18928742G>A	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.733C>T	9.37:g.18928742G>A	ENSP00000369907:p.Arg245Trp					FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.R53W	p.R245W	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN		GBM - Glioblastoma multiforme(50;6.53e-16)	4	1012	-			245					Q5VY58	Missense_Mutation	SNP	ENST00000380534.4	37	c.733C>T	CCDS6487.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495368	0.26774	.	.	ENSG00000155875	ENST00000380534;ENST00000542071	T;T	0.17528	2.27;2.28	5.09	1.85	0.25348	.	0.121518	0.36665	N	0.002470	T	0.32010	0.0815	M	0.65975	2.015	0.18873	N	0.999985	D	0.71674	0.998	P	0.59761	0.863	T	0.07673	-1.0760	10	0.62326	D	0.03	-11.0715	11.3821	0.49763	0.0:0.0:0.381:0.619	.	245	Q8IYX7	F154A_HUMAN	W	245;53	ENSP00000369907:R245W;ENSP00000438823:R53W	ENSP00000369907:R245W	R	-	1	2	FAM154A	18918742	0.145000	0.22656	0.195000	0.23364	0.167000	0.22549	0.911000	0.28584	0.647000	0.30713	0.650000	0.86243	CGG		0.532	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		21	92	0	0	0	0.608945	0	21	92				
TMPRSS11F	389208	broad.mit.edu	37	4	68935716	68935716	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr4:68935716C>T	ENST00000356291.2	-	6	583	c.524G>A	c.(523-525)aGc>aAc	p.S175N	UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	175	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CATCTTTTTGCTGTCAATAGC	0.313																																						ENST00000356291.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						c.(523-525)aGc>aAc		transmembrane protease, serine 11F							149.0	152.0	151.0					4																	68935716		2202	4298	6500	SO:0001583	missense	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68935716C>T	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.524G>A	4.37:g.68935716C>T	ENSP00000348639:p.Ser175Asn					RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA	p.S175N	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN			6	583	-			175			SEA.		A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	c.524G>A	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	C	9.962	1.222971	0.22457	.	.	ENSG00000198092	ENST00000356291	D	0.88509	-2.39	5.96	3.24	0.37175	SEA (2);	0.424717	0.22358	N	0.061114	T	0.74959	0.3785	N	0.14661	0.345	0.32394	N	0.552795	B	0.02656	0.0	B	0.04013	0.001	T	0.66563	-0.5892	10	0.17369	T	0.5	.	5.6751	0.17743	0.0:0.6144:0.2019:0.1837	.	175	Q6ZWK6	TM11F_HUMAN	N	175	ENSP00000348639:S175N	ENSP00000348639:S175N	S	-	2	0	TMPRSS11F	68618311	0.325000	0.24660	1.000000	0.80357	0.835000	0.47333	-0.145000	0.10265	0.844000	0.35094	0.655000	0.94253	AGC		0.313	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		4	316	0	0	0	0.184627	0	4	316				
ARHGEF3	50650	broad.mit.edu	37	3	56779442	56779442	+	Missense_Mutation	SNP	C	C	T	rs377224126		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr3:56779442C>T	ENST00000296315.3	-	7	829	c.661G>A	c.(661-663)Gcc>Acc	p.A221T	ARHGEF3_ENST00000497267.1_Missense_Mutation_p.A192T|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.A253T|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.A227T|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.A221T|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.A227T	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	221	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		AGAGCTTTGGCGGCTACTTGA	0.463																																						ENST00000413728.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25						c.(679-681)Gcc>Acc		Rho guanine nucleotide exchange factor (GEF) 3							130.0	137.0	135.0					3																	56779442		2203	4300	6503	SO:0001583	missense	50650				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr3:56779442C>T	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.661G>A	3.37:g.56779442C>T	ENSP00000296315:p.Ala221Thr					ARHGEF3_ENST00000495373.1_Missense_Mutation_p.A221T|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.A253T|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.A221T|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.A192T|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.A227T	p.A227T	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)	7	1222	-			221			DH.		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000296315.3	37	c.679G>A	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	C	36	5.720549	0.96839	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373	T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.85	5.85	0.93711	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.85729	0.5764	M	0.88512	2.96	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.76575	0.988;0.978;0.943;0.988;0.979;0.988;0.979	D	0.86941	0.2079	10	0.87932	D	0	-14.1455	20.5471	0.99284	0.0:1.0:0.0:0.0	.	227;192;19;221;253;221;227	E9PG37;E7EU49;Q9NR81-4;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;.;ARHG3_HUMAN;.	T	221;253;227;227;192;221	ENSP00000296315:A221T;ENSP00000341071:A253T;ENSP00000410922:A227T;ENSP00000420420:A227T;ENSP00000418826:A192T;ENSP00000417986:A221T	ENSP00000296315:A221T	A	-	1	0	ARHGEF3	56754482	1.000000	0.71417	0.976000	0.42696	0.991000	0.79684	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GCC		0.463	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		5	295	0	0	0	0.184627	0	5	295				
PLK3	1263	broad.mit.edu	37	1	45269352	45269352	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:45269352G>T	ENST00000372201.4	+	9	1392	c.1153G>T	c.(1153-1155)Gcc>Tcc	p.A385S	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	385					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.A346S(1)		endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CCATCAGGATGCCAGGCCAGA	0.597																																						ENST00000372201.4																			1	Substitution - Missense(1)	p.A346S(1)	prostate(1)	endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1153-1155)Gcc>Tcc		polo-like kinase 3							62.0	50.0	54.0					1																	45269352		2203	4300	6503	SO:0001583	missense	1263					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:45269352G>T	AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1153G>T	1.37:g.45269352G>T	ENSP00000361275:p.Ala385Ser					PLK3_ENST00000465443.1_3'UTR	p.A385S	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN			9	1392	+	Acute lymphoblastic leukemia(166;0.155)		385					Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	ENST00000372201.4	37	c.1153G>T	CCDS515.1	.	.	.	.	.	.	.	.	.	.	G	1.260	-0.616067	0.03663	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.66280	-0.2	5.54	4.59	0.56863	.	.	.	.	.	T	0.36358	0.0964	N	0.04090	-0.28	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.02668	-1.1126	9	0.02654	T	1	-12.4819	14.1025	0.65065	0.0:0.2699:0.7301:0.0	.	385	Q9H4B4	PLK3_HUMAN	S	385;360	ENSP00000361275:A385S	ENSP00000361275:A385S	A	+	1	0	PLK3	45041939	0.618000	0.27051	1.000000	0.80357	0.895000	0.52256	1.346000	0.33964	2.607000	0.88179	0.561000	0.74099	GCC		0.597	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1	NM_004073		7	38	1	0	0.0293803	0.248553	0.0319837	7	38				
HERC2P2	400322	broad.mit.edu	37	15	23316050	23316050	+	RNA	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr15:23316050G>A	ENST00000560464.1	-	0	2889									hect domain and RLD 2 pseudogene 2																		GCAGCAGTCCGCATAAAGTCT	0.512																																						ENST00000560464.1																			0																																																			0							g.chr15:23316050G>A	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23316050G>A														0	2889	-									RNA	SNP	ENST00000560464.1	37																																																																																						0.512	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			4	239	0	0	0	0.184627	0	4	239				
APOBEC2	10930	broad.mit.edu	37	6	41029415	41029415	+	Silent	SNP	G	G	A	rs140342245		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr6:41029415G>A	ENST00000244669.2	+	2	524	c.480G>A	c.(478-480)ccG>ccA	p.P160P		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	160					cytidine deamination (GO:0009972)|DNA demethylation (GO:0080111)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)		cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.P160P(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGGAGGAGCCGGAGATCCAGG	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		19798	0.001		0.0	False		,,,				2504	0.0				Ovarian(118;1320 2185 8096 29684)	ENST00000244669.2																			1	Substitution - coding silent(1)	p.P160P(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10						c.(478-480)ccG>ccA		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2							74.0	78.0	77.0					6																	41029415		2203	4300	6503	SO:0001819	synonymous_variant	10930				DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding	g.chr6:41029415G>A	AF161698	CCDS4848.1	6p21	2008-02-05			ENSG00000124701	ENSG00000124701		"""Apolipoprotein B mRNA editing enzymes"""	605	protein-coding gene	gene with protein product		604797				10403781	Standard	NM_006789		Approved	ARCD1, ARP1	uc003opl.3	Q9Y235	OTTHUMG00000014670	ENST00000244669.2:c.480G>A	6.37:g.41029415G>A							p.P160P	NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN			2	524	+	Ovarian(28;0.0418)|Colorectal(47;0.196)		160					B2R899|Q53F28|Q5TGU5|Q5TGU6	Silent	SNP	ENST00000244669.2	37	c.480G>A	CCDS4848.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	6.748	0.506888	0.12883	.	.	ENSG00000124701	ENST00000426505	.	.	.	5.91	-11.8	0.00035	.	.	.	.	.	T	0.34629	0.0904	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61307	-0.7089	5	0.87932	D	0	.	4.6319	0.12506	0.2078:0.4018:0.2741:0.1163	.	.	.	.	Q	125	.	ENSP00000395214:R125Q	R	+	2	0	APOBEC2	41137393	0.000000	0.05858	0.450000	0.26969	0.916000	0.54674	-5.098000	0.00151	-2.116000	0.00830	-1.202000	0.01658	CGG		0.537	APOBEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040498.1	NM_006789		34	143	0	0	0	0.779181	0	34	143				
PSG9	5678	broad.mit.edu	37	19	43766012	43766012	+	Splice_Site	SNP	G	G	A	rs143780806		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:43766012G>A	ENST00000270077.3	-	3	805	c.709C>T	c.(709-711)Ccg>Tcg	p.P237S	PSG9_ENST00000418820.2_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000244293.7_Splice_Site_p.H237Y|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Splice_Site_p.H237Y|PSG9_ENST00000443718.3_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	237					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGATACTCACGGAGGAGATTC	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		21249	0.0		0.001	False		,,,				2504	0.0					ENST00000244293.7																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.e3+1		pregnancy specific beta-1-glycoprotein 9		G	SER/PRO	0,4406		0,0,2203	137.0	136.0	137.0		709	-1.6	0.0	19	dbSNP_134	137	6,8586		0,6,4290	no	missense-near-splice	PSG9	NM_002784.3	74	0,6,6493	AA,AG,GG		0.0698,0.0,0.0462	benign	237/427	43766012	6,12992	2203	4296	6499	SO:0001630	splice_region_variant	5678				female pregnancy	extracellular region		g.chr19:43766012G>A	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.709+1C>T	19.37:g.43766012G>A						PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000593948.1_Splice_Site_p.H237_splice|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000270077.3_Splice_Site_p.P237_splice	p.H237_splice			Q00887	PSG9_HUMAN			3	775	-		Prostate(69;0.00682)	236					B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Splice_Site	SNP	ENST00000270077.3	37	c.709_splice	CCDS12618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	0.007|0.007	-1.998642|-1.998642	0.00435|0.00435	0.0|0.0	6.98E-4|6.98E-4	ENSG00000183668|ENSG00000183668	ENST00000244293|ENST00000270077;ENST00000435220	T|T	0.19105|0.53423	2.17|0.62	2.12|2.12	-1.64|-1.64	0.08318|0.08318	.|.	.|.	.|.	.|.	.|.	T|T	0.22859|0.22859	0.0552|0.0552	N|N	0.17248|0.17248	0.465|0.465	0.53688|0.53688	D|D	0.999979|0.999979	B|B	0.09022|0.14438	0.002|0.01	B|B	0.01281|0.18561	0.0|0.022	T|T	0.10474|0.10474	-1.0628|-1.0628	8|8	.|.	.|.	.|.	.|.	2.6813|2.6813	0.05094|0.05094	0.543:0.2716:0.1854:0.0|0.543:0.2716:0.1854:0.0	.|.	237|237	Q15227|Q00887	.|PSG9_HUMAN	Y|S	237|237;198	ENSP00000244293:H237Y|ENSP00000270077:P237S	.|.	H|P	-|-	1|1	0|0	PSG9|PSG9	48457852|48457852	0.028000|0.028000	0.19301|0.19301	0.016000|0.016000	0.15963|0.15963	0.083000|0.083000	0.17756|0.17756	-0.890000|-0.890000	0.04140|0.04140	-0.778000|-0.778000	0.04566|0.04566	-1.050000|-1.050000	0.02344|0.02344	CAT|CCG		0.522	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784	Missense_Mutation	8	494	0	0	0	0.307466	0	8	494				
GTF2IRD1P1	729156	broad.mit.edu	37	7	66296183	66296183	+	RNA	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr7:66296183G>A	ENST00000457166.1	-	0	683					NR_003934.1				GTF2I repeat domain containing 1 pseusogene 1																		CATTTCTTACGTGTCAGCATC	0.567																																						ENST00000457166.1																			0																																																			0							g.chr7:66296183G>A			7q11.21	2012-06-29			ENSG00000230583	ENSG00000230583			44136	pseudogene	pseudogene							Standard	NR_003934		Approved		uc003tvj.1		OTTHUMG00000156927		7.37:g.66296183G>A								NR_003934.1						0	683	-									RNA	SNP	ENST00000457166.1	37																																																																																						0.567	GTF2IRD1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346561.1	NR_003934		6	39	0	0	0	0.248553	0	6	39				
ABCB4	5244	broad.mit.edu	37	7	87104731	87104731	+	Silent	SNP	C	C	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr7:87104731C>T	ENST00000265723.4	-	2	162	c.51G>A	c.(49-51)gcG>gcA	p.A17A	ABCB4_ENST00000359206.3_Silent_p.A17A|ABCB4_ENST00000545634.1_Silent_p.A17A|ABCB4_ENST00000453593.1_Silent_p.A17A|ABCB4_ENST00000358400.3_Silent_p.A17A	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	17					cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.A17A(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	AGTCGCCCTCCGCGCTCGTGG	0.577																																						ENST00000265723.4																			1	Substitution - coding silent(1)	p.A17A(1)	prostate(1)	breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(49-51)gcG>gcA		ATP-binding cassette, sub-family B (MDR/TAP), member 4							76.0	70.0	72.0					7																	87104731		2203	4300	6503	SO:0001819	synonymous_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87104731C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.51G>A	7.37:g.87104731C>T						ABCB4_ENST00000453593.1_Silent_p.A17A|ABCB4_ENST00000359206.3_Silent_p.A17A|ABCB4_ENST00000358400.3_Silent_p.A17A|ABCB4_ENST00000545634.1_Silent_p.A17A	p.A17A	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			2	162	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		17					A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	c.51G>A	CCDS5606.1																																																																																				0.577	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		13	93	0	0	0	0.411799	0	13	93				
MALAT1	378938	broad.mit.edu	37	11	65269992	65269992	+	lincRNA	SNP	A	A	T	rs538195270		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr11:65269992A>T	ENST00000534336.1	+	0	4760					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TGTTTATTTTAAACTTATCTG	0.308																																						ENST00000534336.1																			0																				54.0	58.0	57.0					11																	65269992		874	1988	2862			0							g.chr11:65269992A>T	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65269992A>T								NR_002819.2						0	4760	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.308	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		4	99	0	0	0	0.150653	0	4	99				
PLA2G4B	100137049	broad.mit.edu	37	15	42133437	42133437	+	Missense_Mutation	SNP	G	G	A	rs201289979		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr15:42133437G>A	ENST00000452633.1	+	7	753	c.401G>A	c.(400-402)cGt>cAt	p.R134H	JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.R365H|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.R365H|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R365H|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.R134H			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	134					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)	p.R365H(1)					all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		AGGGCTGACCGTGGCGAGTGG	0.652													g|||	1	0.000199681	0.0	0.0	5008	,	,		13675	0.001		0.0	False		,,,				2504	0.0					ENST00000382448.4																			1	Substitution - Missense(1)	p.R365H(1)	prostate(1)	endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(1093-1095)cGt>cAt									83.0	99.0	94.0					15																	42133437		2203	4300	6503	SO:0001583	missense	0				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42133437G>A	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.401G>A	15.37:g.42133437G>A	ENSP00000396045:p.Arg134His					JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.R134H|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.R134H|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R365H	p.R365H	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN			11	1103	+			134			PLA2c.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	c.1094G>A	CCDS45241.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	7.013	0.557157	0.13436	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.01527	5.11;4.8;5.03;5.03	4.28	3.37	0.38596	.	1.124660	0.06542	N	0.743360	T	0.01558	0.0050	N	0.24115	0.695	0.09310	N	1	B;P;P	0.49358	0.05;0.871;0.923	B;B;B	0.38562	0.005;0.191;0.276	T	0.42799	-0.9430	10	0.15066	T	0.55	-10.5375	8.0847	0.30765	0.1072:0.0:0.8928:0.0	.	134;365;365	P0C869;P0C869-7;P0C869-6	PA24B_HUMAN;.;.	H	365;365;134;134	ENSP00000371886:R365H;ENSP00000342785:R365H;ENSP00000416610:R134H;ENSP00000396045:R134H	ENSP00000342785:R365H	R	+	2	0	JMJD7-PLA2G4B;PLA2G4B	39920729	0.980000	0.34600	0.022000	0.16811	0.009000	0.06853	2.018000	0.40991	1.402000	0.46780	0.655000	0.94253	CGT		0.652	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		25	197	0	0	0	0.740014	0	25	197				
ZNF292	23036	broad.mit.edu	37	6	87969899	87969899	+	Silent	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr6:87969899A>G	ENST00000369577.3	+	8	6595	c.6552A>G	c.(6550-6552)caA>caG	p.Q2184Q	ZNF292_ENST00000339907.4_Silent_p.Q2179Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2184						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)	p.Q2039Q(1)|p.Q2184Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GAATTTTCCAAGCAATTACTG	0.363																																						ENST00000369577.3																			2	Substitution - coding silent(2)	p.Q2039Q(1)|p.Q2184Q(1)	prostate(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(6550-6552)caA>caG		zinc finger protein 292							195.0	193.0	194.0					6																	87969899		1856	4095	5951	SO:0001819	synonymous_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87969899A>G	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6552A>G	6.37:g.87969899A>G						ZNF292_ENST00000339907.4_Silent_p.Q2179Q	p.Q2184Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	6595	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2184					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	c.6552A>G	CCDS47457.1																																																																																				0.363	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		8	449	0	0	0	0.278610	0	8	449				
FOLR3	2352	broad.mit.edu	37	11	71850178	71850178	+	Silent	SNP	G	G	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr11:71850178G>T	ENST00000445078.2	+	3	533	c.462G>T	c.(460-462)ggG>ggT	p.G154G	FOLR3_ENST00000442948.2_Silent_p.G113G|FOLR3_ENST00000456237.1_Silent_p.G156G			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	112					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)	p.G156G(1)		large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	CCAACCTGGGGCCCTGGATCC	0.562																																						ENST00000445078.2																			1	Substitution - coding silent(1)	p.G156G(1)	prostate(1)	large_intestine(3)|lung(8)|prostate(2)	13						c.(460-462)ggG>ggT		folate receptor 3 (gamma)	Folic Acid(DB00158)						34.0	39.0	38.0					11																	71850178		2200	4293	6493	SO:0001819	synonymous_variant	2352				folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71850178G>T	U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.462G>T	11.37:g.71850178G>T						FOLR3_ENST00000442948.2_Silent_p.G113G|FOLR3_ENST00000456237.1_Silent_p.G156G	p.G154G			P41439	FOLR3_HUMAN			3	533	+			112					J3KQ90|Q05C14	Silent	SNP	ENST00000445078.2	37	c.462G>T																																																																																					0.562	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000396739.1	NM_000804		6	48	1	0	2.0095e-06	0.248553	2.30422e-06	6	48				
KCNMA1	3778	broad.mit.edu	37	10	78647070	78647070	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr10:78647070C>A	ENST00000286628.8	-	28	3664	c.3665G>T	c.(3664-3666)aGg>aTg	p.R1222M	KCNMA1_ENST00000372440.1_Missense_Mutation_p.R1164M|KCNMA1_ENST00000286627.5_Missense_Mutation_p.R1164M|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R1225M|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R1191M|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R1222M|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R1205M|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R1226M|RP11-443A13.5_ENST00000458661.2_RNA	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1222					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.R1164M(2)|p.R1226M(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	CCGGGACTCCCTGGACTTGGG	0.552																																						ENST00000286627.5																			4	Substitution - Missense(4)	p.R1164M(2)|p.R1226M(2)	prostate(2)|lung(2)	breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(3490-3492)aGg>aTg		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						168.0	157.0	161.0					10																	78647070		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78647070C>A	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3665G>T	10.37:g.78647070C>A	ENSP00000286628:p.Arg1222Met					KCNMA1_ENST00000286628.8_Missense_Mutation_p.R1222M|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R1222M|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R1164M|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R1191M|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R1225M|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R1226M|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R1205M	p.R1164M	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		27	4443	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		1222					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.3491G>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	24.0|24.0|24.0	4.484475|4.484475|4.484475	0.84854|0.84854|0.84854	.|.|.	.|.|.	ENSG00000156113|ENSG00000156113|ENSG00000156113	ENST00000372403|ENST00000372421;ENST00000434208|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|.|D;D;D;D;D;D;D;D;D	.|.|0.87491	.|.|-2.01;-2.26;-1.97;-1.99;-2.03;-2.0;-1.98;-2.0;-2.0	5.21|5.21|5.21	5.21|5.21|5.21	0.72293|0.72293|0.72293	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	D|D|D	0.87370|0.87370|0.87370	0.6160|0.6160|0.6160	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D;D;D;D;D;D	.|.|0.89917	.|.|0.997;0.998;0.999;1.0;0.998;0.996;1.0;0.998	.|.|D;D;D;D;D;D;D;D	.|.|0.91635	.|.|0.997;0.994;0.997;0.998;0.995;0.994;0.999;0.994	D|D|D	0.90365|0.90365|0.90365	0.4376|0.4376|0.4376	5|5|10	.|.|0.59425	.|.|D	.|.|0.04	-12.8174|-12.8174|-12.8174	18.7603|18.7603|18.7603	0.91848|0.91848|0.91848	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|1193;1194;1205;1222;1164;975;1225;1191	.|.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7	.|.|.;.;.;KCMA1_HUMAN;.;.;.;.	W|H|M	1115|1152;871|1164;1101;1157;1196;1159;1191;1164;1196;1226;1225;1205;975	.|.|ENSP00000361517:R1164M;ENSP00000361485:R1101M;ENSP00000361514:R1157M;ENSP00000396608:R1196M;ENSP00000361520:R1191M;ENSP00000286627:R1164M;ENSP00000385552:R1226M;ENSP00000346321:R1225M;ENSP00000385806:R1205M	.|.|ENSP00000286627:R1164M	G|Q|R	-|-|-	1|3|2	0|2|0	KCNMA1|KCNMA1|KCNMA1	78317076|78317076|78317076	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.996000|0.996000|0.996000	0.88848|0.88848|0.88848	7.466000|7.466000|7.466000	0.80914|0.80914|0.80914	2.429000|2.429000|2.429000	0.82318|0.82318|0.82318	0.460000|0.460000|0.460000	0.39030|0.39030|0.39030	GGG|CAG|AGG		0.552	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		13	327	1	0	4.36969e-10	0.435327	5.21935e-10	13	327				
UGGT2	55757	broad.mit.edu	37	13	96579562	96579562	+	Missense_Mutation	SNP	A	A	G	rs540044487	byFrequency	TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr13:96579562A>G	ENST00000376747.3	-	18	2076	c.2006T>C	c.(2005-2007)aTt>aCt	p.I669T		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	669					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)	p.I669T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TAGAAAATCAATTGCATTCGT	0.303													A|||	2	0.000399361	0.0	0.0	5008	,	,		14365	0.0		0.0	False		,,,				2504	0.002					ENST00000376747.3																			1	Substitution - Missense(1)	p.I669T(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(2005-2007)aTt>aCt		UDP-glucose glycoprotein glucosyltransferase 2							73.0	72.0	73.0					13																	96579562		2203	4295	6498	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96579562A>G	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.2006T>C	13.37:g.96579562A>G	ENSP00000365938:p.Ile669Thr						p.I669T	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN			18	2076	-			669					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.2006T>C	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.161198	0.38119	.	.	ENSG00000102595	ENST00000376747	T	0.27104	1.69	5.95	5.95	0.96441	.	0.265265	0.38217	N	0.001774	T	0.33585	0.0868	M	0.74258	2.255	0.80722	D	1	B	0.30584	0.286	B	0.29598	0.104	T	0.10753	-1.0616	10	0.54805	T	0.06	-4.3721	16.4116	0.83717	1.0:0.0:0.0:0.0	.	669	Q9NYU1	UGGG2_HUMAN	T	669	ENSP00000365938:I669T	ENSP00000365938:I669T	I	-	2	0	UGGT2	95377563	0.998000	0.40836	0.867000	0.34043	0.183000	0.23260	8.078000	0.89507	2.276000	0.75962	0.528000	0.53228	ATT		0.303	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		6	154	0	0	0	0.248553	0	6	154				
FERMT2	10979	broad.mit.edu	37	14	53325133	53325133	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr14:53325133C>A	ENST00000395631.2	-	15	2221	c.2005G>T	c.(2005-2007)Gaa>Taa	p.E669*	FERMT2_ENST00000341590.3_Nonsense_Mutation_p.E669*|FERMT2_ENST00000343279.4_Nonsense_Mutation_p.E676*|FERMT2_ENST00000553373.1_Nonsense_Mutation_p.E676*|FERMT2_ENST00000557255.1_5'UTR			Q96AC1	FERM2_HUMAN	fermitin family member 2	669					cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					AACATCTCTTCATCTAAACTC	0.363																																						ENST00000395631.2																		ERO1L/FERMT2(2)	0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(2005-2007)Gaa>Taa		fermitin family member 2							224.0	193.0	204.0					14																	53325133		2203	4300	6503	SO:0001587	stop_gained	10979				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	g.chr14:53325133C>A	Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.2005G>T	14.37:g.53325133C>A	ENSP00000378993:p.Glu669*					FERMT2_ENST00000557255.1_5'UTR|FERMT2_ENST00000341590.3_Nonsense_Mutation_p.E669*|FERMT2_ENST00000343279.4_Nonsense_Mutation_p.E676*|FERMT2_ENST00000553373.1_Nonsense_Mutation_p.E676*	p.E669*			Q96AC1	FERM2_HUMAN			15	2221	-	Breast(41;0.0342)		669					B5TJY2|Q14840|Q86TY7	Nonsense_Mutation	SNP	ENST00000395631.2	37	c.2005G>T	CCDS9713.1	.	.	.	.	.	.	.	.	.	.	C	37	6.143909	0.97320	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	669;669;629;676;676	.	ENSP00000340391:E669X	E	-	1	0	FERMT2	52394883	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.796000	0.85898	2.937000	0.99478	0.650000	0.86243	GAA		0.363	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832		4	203	1	0	0.150653	0.150653	0.159953	4	203				
MYO9B	4650	broad.mit.edu	37	19	17267727	17267727	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:17267727C>T	ENST00000594824.1	+	7	1355	c.1208C>T	c.(1207-1209)gCc>gTc	p.A403V	MYO9B_ENST00000397274.2_Missense_Mutation_p.A403V|MYO9B_ENST00000595618.1_Missense_Mutation_p.A403V|CTD-3032J10.2_ENST00000599360.1_RNA|CTD-3032J10.2_ENST00000597216.1_RNA			Q13459	MYO9B_HUMAN	myosin IXB	403	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.A403V(1)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGGATTTTTGCCGTCCTCTCG	0.527																																						ENST00000595618.1																			1	Substitution - Missense(1)	p.A403V(1)	prostate(1)	breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(1207-1209)gCc>gTc		myosin IXB							72.0	73.0	72.0					19																	17267727		1918	4129	6047	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17267727C>T		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.1208C>T	19.37:g.17267727C>T	ENSP00000471367:p.Ala403Val					CTD-3032J10.2_ENST00000597216.1_RNA|MYO9B_ENST00000397274.2_Missense_Mutation_p.A403V|CTD-3032J10.2_ENST00000599360.1_RNA|MYO9B_ENST00000594824.1_Missense_Mutation_p.A403V	p.A403V	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			7	1360	+			403			Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.1208C>T		.	.	.	.	.	.	.	.	.	.	C	14.60	2.583474	0.46006	.	.	ENSG00000099331	ENST00000397274	D	0.87571	-2.27	5.52	4.47	0.54385	Myosin head, motor domain (2);	0.129149	0.35739	N	0.003002	D	0.84261	0.5433	L	0.39020	1.185	0.23331	N	0.99789	B;B;B	0.19706	0.038;0.038;0.007	B;B;B	0.32022	0.139;0.139;0.038	T	0.77197	-0.2676	10	0.66056	D	0.02	.	15.6004	0.76620	0.0:0.8623:0.1377:0.0	.	403;403;409	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	V	403	ENSP00000380444:A403V	ENSP00000380444:A403V	A	+	2	0	MYO9B	17128727	0.997000	0.39634	0.293000	0.24932	0.545000	0.35147	3.662000	0.54510	1.304000	0.44892	0.563000	0.77884	GCC		0.527	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			4	165	0	0	0	0.150653	0	4	165				
BRDT	676	broad.mit.edu	37	1	92446630	92446630	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:92446630C>T	ENST00000362005.3	+	11	2063	c.1645C>T	c.(1645-1647)Cct>Tct	p.P549S	BRDT_ENST00000394530.3_Missense_Mutation_p.P503S|BRDT_ENST00000402388.1_Missense_Mutation_p.P549S|BRDT_ENST00000399546.2_Missense_Mutation_p.P549S|BRDT_ENST00000370389.2_Missense_Mutation_p.P476S	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	549	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)	p.P549S(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CAATTCCAATCCTGATGAGAT	0.368																																						ENST00000370389.2																			2	Substitution - Missense(2)	p.P549S(2)	prostate(2)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(1426-1428)Cct>Tct		bromodomain, testis-specific							73.0	75.0	75.0					1																	92446630		2203	4300	6503	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92446630C>T	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1645C>T	1.37:g.92446630C>T	ENSP00000354568:p.Pro549Ser					BRDT_ENST00000402388.1_Missense_Mutation_p.P549S|BRDT_ENST00000394530.3_Missense_Mutation_p.P503S|BRDT_ENST00000362005.3_Missense_Mutation_p.P549S|BRDT_ENST00000399546.2_Missense_Mutation_p.P549S	p.P476S	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	10	2350	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	549					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.1426C>T	CCDS735.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781103	0.70222	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000394530;ENST00000402388	T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18	5.97	4.12	0.48240	.	0.109197	0.41396	N	0.000892	T	0.60248	0.2254	M	0.85299	2.745	0.58432	D	0.999998	B;B;B;P	0.45176	0.062;0.062;0.275;0.852	B;B;B;P	0.48524	0.013;0.013;0.174;0.58	T	0.68988	-0.5264	10	0.87932	D	0	-6.661	14.2282	0.65873	0.0:0.9093:0.0:0.0907	.	503;503;553;549	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	S	549;476;549;503;549	ENSP00000354568:P549S;ENSP00000359416:P476S;ENSP00000387822:P549S;ENSP00000378038:P503S;ENSP00000384051:P549S	ENSP00000354568:P549S	P	+	1	0	BRDT	92219218	0.923000	0.31300	0.565000	0.28409	0.505000	0.33919	3.996000	0.57009	0.867000	0.35654	0.585000	0.79938	CCT		0.368	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		5	141	0	0	0	0.184627	0	5	141				
ESCO1	114799	broad.mit.edu	37	18	19154390	19154390	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr18:19154390T>A	ENST00000269214.5	-	4	1352	c.415A>T	c.(415-417)Aga>Tga	p.R139*		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	139					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)	p.R139*(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TGAATTTCTCTACTGCGTAAC	0.373																																						ENST00000269214.5																			1	Substitution - Nonsense(1)	p.R139*(1)	prostate(1)	breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(415-417)Aga>Tga		establishment of sister chromatid cohesion N-acetyltransferase 1							277.0	273.0	274.0					18																	19154390		2203	4300	6503	SO:0001587	stop_gained	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19154390T>A	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.415A>T	18.37:g.19154390T>A	ENSP00000269214:p.Arg139*						p.R139*	NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN			4	1352	-			139					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Nonsense_Mutation	SNP	ENST00000269214.5	37	c.415A>T	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	T	44	10.897345	0.99485	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	.	.	.	6.17	3.63	0.41609	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.7538	7.4502	0.27234	0.0:0.0708:0.2432:0.686	.	.	.	.	X	139	.	ENSP00000269214:R139X	R	-	1	2	ESCO1	17408388	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.946000	0.40283	2.371000	0.80710	0.533000	0.62120	AGA		0.373	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		14	878	0	0	0	0.500413	0	14	878				
ASTN1	460	broad.mit.edu	37	1	176853612	176853612	+	Missense_Mutation	SNP	G	G	A	rs143440206		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:176853612G>A	ENST00000367654.3	-	19	3324	c.3113C>T	c.(3112-3114)aCg>aTg	p.T1038M	ASTN1_ENST00000424564.2_Missense_Mutation_p.T1030M|ASTN1_ENST00000367657.3_Missense_Mutation_p.T1030M|ASTN1_ENST00000361833.2_Missense_Mutation_p.T1030M	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1038	Fibronectin type-III 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.T1030M(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTCGTGAACCGTGGAGAGTCT	0.517													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19356	0.0		0.0	False		,,,				2504	0.0					ENST00000367654.2																			1	Substitution - Missense(1)	p.T1030M(1)	prostate(1)	NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(3112-3114)aCg>aTg		astrotactin 1		G	MET/THR,MET/THR	4,4402	8.1+/-20.4	0,4,2199	105.0	97.0	100.0		3089,3089	1.8	0.2	1	dbSNP_134	100	0,8600		0,0,4300	yes	missense,missense	ASTN1	NM_004319.1,NM_207108.1	81,81	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign,benign	1030/1295,1030/1217	176853612	4,13002	2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176853612G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3113C>T	1.37:g.176853612G>A	ENSP00000356626:p.Thr1038Met					ASTN1_ENST00000367657.3_Missense_Mutation_p.T1030M|ASTN1_ENST00000424564.2_Missense_Mutation_p.T1030M|ASTN1_ENST00000361833.2_Missense_Mutation_p.T1030M	p.T1038M			O14525	ASTN1_HUMAN			19	3126	-			1038			Fibronectin type-III 1.		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.3113C>T		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	8.637	0.895074	0.17613	9.08E-4	0.0	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.79	1.84	0.25277	.	0.331224	0.37393	N	0.002118	T	0.16938	0.0407	N	0.02011	-0.69	0.28795	N	0.899094	B;B	0.18968	0.032;0.013	B;B	0.16722	0.014;0.016	T	0.14364	-1.0475	10	0.45353	T	0.12	-1.3478	9.4443	0.38688	0.3381:0.0:0.6619:0.0	.	1030;1030	O14525-2;B1AJS1	.;.	M	1030;1030;1038;1030;1030	ENSP00000356629:T1030M;ENSP00000354536:T1030M;ENSP00000356626:T1038M;ENSP00000395041:T1030M	ENSP00000354536:T1030M	T	-	2	0	ASTN1	175120235	0.992000	0.36948	0.161000	0.22692	0.709000	0.40893	2.179000	0.42528	0.091000	0.17302	0.655000	0.94253	ACG		0.517	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		22	119	0	0	0	0.639603	0	22	119				
AQP9	366	broad.mit.edu	37	15	58465386	58465386	+	Missense_Mutation	SNP	G	G	A	rs200107166	byFrequency	TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr15:58465386G>A	ENST00000219919.4	+	3	728	c.358G>A	c.(358-360)Gtc>Atc	p.V120I	AQP9_ENST00000558772.1_Missense_Mutation_p.V55I|AQP9_ENST00000536493.1_Missense_Mutation_p.V120I|ALDH1A2_ENST00000558231.1_Intron	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	120					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.V120I(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		GGCTGCAACCGTCTTTGGCAT	0.463													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19261	0.0		0.0	False		,,,				2504	0.0					ENST00000219919.4																			1	Substitution - Missense(1)	p.V120I(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21						c.(358-360)Gtc>Atc		aquaporin 9							136.0	141.0	139.0					15																	58465386		2192	4292	6484	SO:0001583	missense	366				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	g.chr15:58465386G>A	AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"""Ion channels / Aquaporins"""	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.358G>A	15.37:g.58465386G>A	ENSP00000219919:p.Val120Ile					AQP9_ENST00000558772.1_Missense_Mutation_p.V55I|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.V120I	p.V120I	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN		GBM - Glioblastoma multiforme(80;0.16)	3	728	+			120					Q9NP32	Missense_Mutation	SNP	ENST00000219919.4	37	c.358G>A	CCDS10165.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.390	-0.923930	0.02377	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	D;D	0.86297	-2.1;-2.1	5.13	0.98	0.19750	Aquaporin-like (2);	0.396309	0.23973	N	0.042758	T	0.79986	0.4541	L	0.33137	0.985	0.35701	D	0.815628	B	0.16802	0.019	B	0.25759	0.063	T	0.71286	-0.4638	10	0.22109	T	0.4	.	13.9603	0.64175	0.1058:0.2398:0.6544:0.0	.	120	O43315	AQP9_HUMAN	I	120	ENSP00000219919:V120I;ENSP00000441390:V120I	ENSP00000219919:V120I	V	+	1	0	AQP9	56252678	1.000000	0.71417	0.122000	0.21767	0.276000	0.26787	3.777000	0.55364	0.027000	0.15297	-0.228000	0.12330	GTC		0.463	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980		8	346	0	0	0	0.278610	0	8	346				
SIX1	6495	broad.mit.edu	37	14	61115638	61115638	+	Silent	SNP	C	C	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr14:61115638C>T	ENST00000247182.6	-	1	542	c.270G>A	c.(268-270)gcG>gcA	p.A90A	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	90					aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|branching involved in ureteric bud morphogenesis (GO:0001658)|cochlea morphogenesis (GO:0090103)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial cell differentiation (GO:0030855)|facial nerve morphogenesis (GO:0021610)|generation of neurons (GO:0048699)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesonephric tubule formation (GO:0072172)|metanephric mesenchyme development (GO:0072075)|middle ear morphogenesis (GO:0042474)|myoblast migration (GO:0051451)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|organ induction (GO:0001759)|otic vesicle development (GO:0071599)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|protein localization to nucleus (GO:0034504)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of neuron differentiation (GO:0045664)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A90A(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CCACGTAATGCGCCTTCAGCC	0.627																																						ENST00000247182.6																			1	Substitution - coding silent(1)	p.A90A(1)	lung(1)	breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13						c.(268-270)gcG>gcA		SIX homeobox 1							105.0	107.0	107.0					14																	61115638		2203	4300	6503	SO:0001819	synonymous_variant	6495				branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:61115638C>T	X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778		"""Homeoboxes / SINE class"""	10887	protein-coding gene	gene with protein product		601205	"""sine oculis homeobox (Drosophila) homolog 1"", ""sine oculis homeobox homolog 1 (Drosophila)"", ""deafness, autosomal dominant 23"""	DFNA23		8617500, 15141091	Standard	NM_005982		Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000247182.6:c.270G>A	14.37:g.61115638C>T						SIX1_ENST00000554986.1_Intron	p.A90A	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0201)	1	542	-			90					Q53Y16|Q96H64	Silent	SNP	ENST00000247182.6	37	c.270G>A	CCDS9748.1																																																																																				0.627	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276951.3			4	172	0	0	0	0.184627	0	4	172				
HAL	3034	broad.mit.edu	37	12	96368030	96368030	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr12:96368030G>A	ENST00000261208.3	-	21	2322	c.1954C>T	c.(1954-1956)Ccg>Tcg	p.P652S	HAL_ENST00000541929.1_Missense_Mutation_p.P444S|HAL_ENST00000538703.1_3'UTR	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	652					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TCAGACTCCGGGATTTTGGTG	0.428																																					NSCLC(169;943 2815 23563 30031)	ENST00000261208.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34						c.(1954-1956)Ccg>Tcg		histidine ammonia-lyase	L-Histidine(DB00117)						151.0	150.0	150.0					12																	96368030		2203	4300	6503	SO:0001583	missense	3034				biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	g.chr12:96368030G>A		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.1954C>T	12.37:g.96368030G>A	ENSP00000261208:p.Pro652Ser					HAL_ENST00000541929.1_Missense_Mutation_p.P444S|HAL_ENST00000538703.1_3'UTR	p.P652S	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN			21	2322	-			652					B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	c.1954C>T	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	G	6.986	0.552042	0.13374	.	.	ENSG00000084110	ENST00000261208;ENST00000541929	T;T	0.76968	-1.06;-0.08	5.41	3.54	0.40534	.	0.404702	0.25774	N	0.028394	T	0.57257	0.2041	N	0.22421	0.69	0.27472	N	0.952847	B	0.24186	0.099	B	0.17098	0.017	T	0.43327	-0.9398	10	0.02654	T	1	-2.0743	9.2654	0.37639	0.0:0.2983:0.5476:0.1541	.	652	P42357	HUTH_HUMAN	S	652;444	ENSP00000261208:P652S;ENSP00000446364:P444S	ENSP00000261208:P652S	P	-	1	0	HAL	94892161	0.968000	0.33430	0.962000	0.40283	0.019000	0.09904	1.552000	0.36244	0.613000	0.30089	-0.176000	0.13171	CCG		0.428	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1			6	448	0	0	0	0.217242	0	6	448				
PRKCQ	5588	broad.mit.edu	37	10	6539186	6539186	+	Silent	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr10:6539186G>A	ENST00000263125.5	-	6	669	c.570C>T	c.(568-570)tgC>tgT	p.C190C	PRKCQ_ENST00000539722.1_Silent_p.C65C|PRKCQ_ENST00000397176.2_Silent_p.C190C	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	190					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	ACTTACGTCGGCACTGGTAGC	0.378																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(568-570)tgC>tgT		protein kinase C, theta							142.0	134.0	137.0					10																	6539186		2203	4300	6503	SO:0001819	synonymous_variant	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6539186G>A	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.570C>T	10.37:g.6539186G>A						PRKCQ_ENST00000539722.1_Silent_p.C65C|PRKCQ_ENST00000397176.2_Silent_p.C190C	p.C190C	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			6	669	-			190					B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Silent	SNP	ENST00000263125.5	37	c.570C>T	CCDS7079.1																																																																																				0.378	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		4	307	0	0	0	0.184627	0	4	307				
EEPD1	80820	broad.mit.edu	37	7	36324335	36324335	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr7:36324335G>A	ENST00000242108.4	+	5	1800	c.1082G>A	c.(1081-1083)gGc>gAc	p.G361D	EEPD1_ENST00000534978.1_Missense_Mutation_p.G361D	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	361					DNA repair (GO:0006281)		DNA binding (GO:0003677)	p.G361D(1)		endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						GCGGCTGCCGGCATGGAGCTG	0.657																																						ENST00000242108.4																			1	Substitution - Missense(1)	p.G361D(1)	lung(1)	endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						c.(1081-1083)gGc>gAc		endonuclease/exonuclease/phosphatase family domain containing 1							76.0	85.0	82.0					7																	36324335		2203	4300	6503	SO:0001583	missense	80820				DNA repair		DNA binding	g.chr7:36324335G>A	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.1082G>A	7.37:g.36324335G>A	ENSP00000242108:p.Gly361Asp					EEPD1_ENST00000534978.1_Missense_Mutation_p.G361D	p.G361D	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN			5	1800	+			361					Q96K64|Q9C0F7	Missense_Mutation	SNP	ENST00000242108.4	37	c.1082G>A	CCDS34619.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.534512	0.45073	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	T;T	0.27720	1.65;1.65	4.75	3.86	0.44501	Endonuclease/exonuclease/phosphatase (2);	0.164239	0.53938	D	0.000044	T	0.29783	0.0744	L	0.54323	1.7	0.31883	N	0.618152	P	0.36465	0.554	B	0.41332	0.354	T	0.25984	-1.0116	10	0.14252	T	0.57	-10.8519	10.3793	0.44101	0.0945:0.0:0.9055:0.0	.	361	Q7L9B9	EEPD1_HUMAN	D	361	ENSP00000242108:G361D;ENSP00000442692:G361D	ENSP00000242108:G361D	G	+	2	0	EEPD1	36290860	1.000000	0.71417	0.051000	0.19133	0.017000	0.09413	5.447000	0.66606	1.101000	0.41535	0.462000	0.41574	GGC		0.657	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	NM_030636		4	190	0	0	0	0.248553	0	4	190				
MTSS1	9788	broad.mit.edu	37	8	125565501	125565501	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr8:125565501C>T	ENST00000518547.1	-	14	2473	c.2000G>A	c.(1999-2001)gGc>gAc	p.G667D	MTSS1_ENST00000354184.4_Missense_Mutation_p.G385D|MTSS1_ENST00000325064.5_Missense_Mutation_p.G671D|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000378017.3_Missense_Mutation_p.G642D|MTSS1_ENST00000431961.2_Missense_Mutation_p.G385D|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000395508.2_Missense_Mutation_p.G441D|MTSS1_ENST00000524090.1_Missense_Mutation_p.G557D	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	667	Pro-rich.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGAAGCTTGGCCGCTCCACAT	0.612																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	ENST00000518547.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(1999-2001)gGc>gAc		metastasis suppressor 1							108.0	102.0	104.0					8																	125565501		2203	4300	6503	SO:0001583	missense	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125565501C>T	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.2000G>A	8.37:g.125565501C>T	ENSP00000429064:p.Gly667Asp					MTSS1_ENST00000524090.1_Missense_Mutation_p.G557D|MTSS1_ENST00000523587.1_5'UTR|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000431961.2_Missense_Mutation_p.G385D|MTSS1_ENST00000395508.2_Missense_Mutation_p.G441D|MTSS1_ENST00000378017.3_Missense_Mutation_p.G642D|MTSS1_ENST00000354184.4_Missense_Mutation_p.G385D|MTSS1_ENST00000325064.5_Missense_Mutation_p.G671D	p.G667D	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		14	2473	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		667			Pro-rich.		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	37	c.2000G>A	CCDS6353.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015173	0.75161	.	.	ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000354184;ENST00000395508;ENST00000325064;ENST00000431961;ENST00000524090	T;T;T;T;T;T;T	0.34667	1.35;1.36;1.44;1.37;1.35;1.44;1.35	6.04	6.04	0.98038	.	0.112377	0.64402	D	0.000017	T	0.43322	0.1242	N	0.24115	0.695	0.58432	D	0.999999	P;D;D;P;P;P;D	0.65815	0.78;0.989;0.995;0.546;0.902;0.767;0.995	B;P;P;B;B;B;P	0.55112	0.335;0.725;0.738;0.186;0.415;0.439;0.769	T	0.22138	-1.0225	10	0.51188	T	0.08	-32.2351	20.5792	0.99380	0.0:1.0:0.0:0.0	.	557;441;642;667;642;385;316	E7EWW5;B7Z3B6;A5YM41;O43312;O43312-4;O43312-2;Q6ZTG0	.;.;.;MTSS1_HUMAN;.;.;.	D	642;667;385;441;671;385;557	ENSP00000367256:G642D;ENSP00000429064:G667D;ENSP00000346119:G385D;ENSP00000378884:G441D;ENSP00000322804:G671D;ENSP00000393606:G385D;ENSP00000428319:G557D	ENSP00000322804:G671D	G	-	2	0	MTSS1	125634682	0.999000	0.42202	1.000000	0.80357	0.968000	0.65278	5.269000	0.65542	2.873000	0.98535	0.561000	0.74099	GGC		0.612	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		6	263	0	0	0	0.217242	0	6	263				
PFKL	5211	broad.mit.edu	37	21	45742931	45742931	+	Splice_Site	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr21:45742931A>G	ENST00000349048.4	+	15	1551	c.1496A>G	c.(1495-1497)gAg>gGg	p.E499G	PFKL_ENST00000403390.1_Splice_Site_p.E546G	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	499	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GGTGGGTTTGAGGTGAGAGCT	0.622																																						ENST00000403390.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.e16+1		phosphofructokinase, liver							132.0	101.0	112.0					21																	45742931		2203	4299	6502	SO:0001630	splice_region_variant	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45742931A>G		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1497+1A>G	21.37:g.45742931A>G						PFKL_ENST00000349048.4_Splice_Site_p.E499_splice	p.E546_splice			P17858	K6PL_HUMAN		Colorectal(79;0.0811)	16	1637	+			499					Q96A64|Q96IH4|Q9BR91	Splice_Site	SNP	ENST00000349048.4	37	c.1638_splice	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.113423	0.56398	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	T;T	0.57595	0.39;0.39	3.54	3.54	0.40534	Phosphofructokinase domain (2);	0.000000	0.85682	U	0.000000	T	0.55194	0.1905	N	0.20357	0.565	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.988	T	0.59584	-0.7427	10	0.87932	D	0	-31.0891	10.341	0.43877	1.0:0.0:0.0:0.0	.	499;546	P17858;P17858-2	K6PL_HUMAN;.	G	499;292;546	ENSP00000269848:E499G;ENSP00000384038:E546G	ENSP00000269848:E499G	E	+	2	0	PFKL	44567359	1.000000	0.71417	0.960000	0.40013	0.122000	0.20287	4.770000	0.62309	1.384000	0.46424	0.402000	0.26972	GAG		0.622	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1		Missense_Mutation	3	106	0	0	0	0.115264	0	3	106				
ADRB2	154	broad.mit.edu	37	5	148206406	148206406	+	Silent	SNP	C	C	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr5:148206406C>T	ENST00000305988.4	+	1	251	c.12C>T	c.(10-12)ccC>ccT	p.P4P		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	4					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)	p.P4P(1)		endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	TGGGGCAACCCGGGAACGGCA	0.726																																						ENST00000305988.4																			1	Substitution - coding silent(1)	p.P4P(1)	prostate(1)	endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14						c.(10-12)ccC>ccT		adrenoceptor beta 2, surface	Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)						64.0	67.0	66.0					5																	148206406		2203	4300	6503	SO:0001819	synonymous_variant	154				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	g.chr5:148206406C>T	AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"""GPCR / Class A : Adrenoceptors : beta"""	286	protein-coding gene	gene with protein product		109690	"""adrenergic, beta-2-, receptor, surface"""	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.12C>T	5.37:g.148206406C>T							p.P4P	NM_000024.5	NP_000015.1	P07550	ADRB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	251	+			4					B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Silent	SNP	ENST00000305988.4	37	c.12C>T	CCDS4292.1																																																																																				0.726	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1	NM_000024		7	88	0	0	0	0.278610	0	7	88				
ATRX	546	broad.mit.edu	37	X	76940433	76940433	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chrX:76940433A>C	ENST00000373344.5	-	8	874	c.660T>G	c.(658-660)tgT>tgG	p.C220W	ATRX_ENST00000395603.3_Missense_Mutation_p.C182W|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	220	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.		C -> R (in ATRX).|C -> Y (in MRXSHF1). {ECO:0000269|PubMed:11050622}.		ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.C220W(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTACCTACCTACATTGTTCAT	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		3	Substitution - Missense(2)|Unknown(1)	p.C220W(2)|p.?(1)	prostate(2)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(658-660)tgT>tgG		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						153.0	129.0	137.0					X																	76940433		2203	4292	6495	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76940433A>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.660T>G	X.37:g.76940433A>C	ENSP00000362441:p.Cys220Trp					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.C182W	p.C220W	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			8	874	-			220		C -> R (in ATRX).|C -> Y (in MRXSHF1).	ADD.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.660T>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.383536	0.42207	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.99399	-5.83;-5.83	5.54	4.36	0.52297	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, FYVE/PHD-type (1);	0.119578	0.64402	D	0.000020	D	0.99402	0.9789	M	0.85945	2.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.999;0.998	D	0.99395	1.0926	10	0.87932	D	0	-15.232	8.3363	0.32217	0.8435:0.0:0.1565:0.0	.	220;181;182;220	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	W	220;182;176	ENSP00000362441:C220W;ENSP00000378967:C182W	ENSP00000362441:C220W	C	-	3	2	ATRX	76827089	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.004000	0.49513	1.844000	0.53588	0.345000	0.21793	TGT		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		4	134	0	0	0	0.150653	0	4	134				
FBN3	84467	broad.mit.edu	37	19	8176568	8176568	+	Missense_Mutation	SNP	G	G	A	rs149551378	byFrequency	TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:8176568G>A	ENST00000600128.1	-	32	4462	c.4048C>T	c.(4048-4050)Cgc>Tgc	p.R1350C	FBN3_ENST00000601739.1_Missense_Mutation_p.R1350C|FBN3_ENST00000270509.2_Missense_Mutation_p.R1350C			Q75N90	FBN3_HUMAN	fibrillin 3	1350	EGF-like 20; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R1350C(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AAGCCCTGGCGGCAGGTGCAG	0.632																																						ENST00000600128.1																			1	Substitution - Missense(1)	p.R1350C(1)	prostate(1)	NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(4048-4050)Cgc>Tgc		fibrillin 3		G	CYS/ARG	8,4398	12.9+/-30.5	0,8,2195	31.0	32.0	32.0		4048	3.8	0.3	19	dbSNP_134	32	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FBN3	NM_032447.3	180	0,9,6494	AA,AG,GG		0.0116,0.1816,0.0692	probably-damaging	1350/2810	8176568	9,12997	2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8176568G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4048C>T	19.37:g.8176568G>A	ENSP00000470498:p.Arg1350Cys					FBN3_ENST00000270509.2_Missense_Mutation_p.R1350C|FBN3_ENST00000601739.1_Missense_Mutation_p.R1350C	p.R1350C			Q75N90	FBN3_HUMAN			32	4462	-			1350			EGF-like 20; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.4048C>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437926	0.43326	0.001816	1.16E-4	ENSG00000142449	ENST00000270509	D	0.92495	-3.05	3.84	3.84	0.44239	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.248924	0.34200	U	0.004164	D	0.94424	0.8206	M	0.85462	2.755	0.45108	D	0.998123	D	0.69078	0.997	P	0.54965	0.765	D	0.94456	0.7672	10	0.59425	D	0.04	.	11.0595	0.47940	0.0:0.0:0.8141:0.1859	.	1350	Q75N90	FBN3_HUMAN	C	1350	ENSP00000270509:R1350C	ENSP00000270509:R1350C	R	-	1	0	FBN3	8082568	0.996000	0.38824	0.253000	0.24343	0.039000	0.13416	2.392000	0.44433	1.682000	0.51000	0.313000	0.20887	CGC		0.632	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		12	43	0	0	0	0.435327	0	12	43				
DNM2	1785	broad.mit.edu	37	19	10904491	10904491	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:10904491A>G	ENST00000355667.6	+	8	1168	c.1088A>G	c.(1087-1089)aAt>aGt	p.N363S	DNM2_ENST00000359692.6_Missense_Mutation_p.N363S|DNM2_ENST00000389253.4_Missense_Mutation_p.N363S|DNM2_ENST00000408974.4_Missense_Mutation_p.N363S|DNM2_ENST00000585892.1_Missense_Mutation_p.N363S|DNM2_ENST00000314646.5_Missense_Mutation_p.N363S	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	363					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GCCCGAATCAATCGCATCTTC	0.617			"""F, N, Splice, Mis, O"""		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"""F, N, Splice, Mis, O"""	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1087-1089)aAt>aGt		dynamin 2							94.0	101.0	99.0					19																	10904491		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10904491A>G		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1088A>G	19.37:g.10904491A>G	ENSP00000347890:p.Asn363Ser					DNM2_ENST00000359692.6_Missense_Mutation_p.N363S|DNM2_ENST00000355667.6_Missense_Mutation_p.N363S|DNM2_ENST00000389253.4_Missense_Mutation_p.N363S|DNM2_ENST00000585892.1_Missense_Mutation_p.N363S|DNM2_ENST00000408974.4_Missense_Mutation_p.N363S	p.N363S			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		8	1252	+			363					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.1088A>G	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	A	17.87	3.495180	0.64186	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67	4.93	4.93	0.64822	Dynamin central domain (1);	0.092490	0.64402	D	0.000001	T	0.69459	0.3113	L	0.41824	1.3	0.80722	D	1	D;B;B;B;B	0.52996	0.957;0.164;0.081;0.095;0.207	P;B;B;B;B	0.50754	0.649;0.168;0.084;0.12;0.092	T	0.69277	-0.5187	10	0.37606	T	0.19	-6.145	13.5959	0.61988	1.0:0.0:0.0:0.0	.	96;363;363;363;363	B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;DYN2_HUMAN;.	S	352;363;363;363;363;363	ENSP00000386192:N363S;ENSP00000347890:N363S;ENSP00000352721:N363S;ENSP00000373905:N363S;ENSP00000313164:N363S	ENSP00000313164:N363S	N	+	2	0	DNM2	10765491	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.339000	0.96797	1.846000	0.53633	0.533000	0.62120	AAT		0.617	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		5	208	0	0	0	0.217242	0	5	208				
N6AMT1	29104	broad.mit.edu	37	21	30255333	30255333	+	Silent	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr21:30255333A>G	ENST00000303775.5	-	2	220	c.195T>C	c.(193-195)tcT>tcC	p.S65S	N6AMT1_ENST00000351429.3_Silent_p.S65S	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	65					positive regulation of cell growth (GO:0030307)|protein methylation (GO:0006479)	protein complex (GO:0043234)	nucleic acid binding (GO:0003676)|protein methyltransferase activity (GO:0008276)	p.S65S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						GGCCTATCATAGAGGCTAGGA	0.333																																						ENST00000303775.5																			1	Substitution - coding silent(1)	p.S65S(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						c.(193-195)tcT>tcC		N-6 adenine-specific DNA methyltransferase 1 (putative)							95.0	87.0	90.0					21																	30255333		2203	4300	6503	SO:0001819	synonymous_variant	29104				positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity	g.chr21:30255333A>G	AF139682	CCDS33525.1, CCDS33526.1	21q21.3	2006-12-14	2006-12-14	2006-12-14	ENSG00000156239	ENSG00000156239	2.1.1.72		16021	protein-coding gene	gene with protein product		614553	"""chromosome 21 open reading frame 127"", ""HemK methyltransferase family member 2"""	C21orf127, HEMK2			Standard	NM_013240		Approved	PRED28, N6AMT, MTQ2	uc002ymo.2	Q9Y5N5	OTTHUMG00000078750	ENST00000303775.5:c.195T>C	21.37:g.30255333A>G						N6AMT1_ENST00000351429.3_Silent_p.S65S	p.S65S	NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN			2	220	-			65					Q96F73	Silent	SNP	ENST00000303775.5	37	c.195T>C	CCDS33526.1																																																																																				0.333	N6AMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171738.1	NM_013240		24	125	0	0	0	0.681144	0	24	125				
FKBP4	2288	broad.mit.edu	37	12	2912357	2912357	+	Missense_Mutation	SNP	C	C	G	rs200588430		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr12:2912357C>G	ENST00000001008.4	+	10	1500	c.1313C>G	c.(1312-1314)aCa>aGa	p.T438R	RP4-816N1.6_ENST00000547794.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.6_ENST00000552469.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	438					androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)	p.T438R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			CCCACTGACACAGAGATGAAG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		17380	0.0		0.001	False		,,,				2504	0.0					ENST00000001008.4																			1	Substitution - Missense(1)	p.T438R(1)	prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14						c.(1312-1314)aCa>aGa		FK506 binding protein 4, 59kDa	Dimethyl sulfoxide(DB01093)						61.0	47.0	52.0					12																	2912357		2203	4300	6503	SO:0001583	missense	2288				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging	g.chr12:2912357C>G	M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"""Tetratricopeptide (TTC) repeat domain containing"""	3720	protein-coding gene	gene with protein product		600611	"""FK506-binding protein 4 (59kD)"""			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.1313C>G	12.37:g.2912357C>G	ENSP00000001008:p.Thr438Arg					RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	p.T438R	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00105)		10	1500	+			438					D3DUQ1|Q9UCP1|Q9UCV7	Missense_Mutation	SNP	ENST00000001008.4	37	c.1313C>G	CCDS8512.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.847	-0.739992	0.03088	.	.	ENSG00000004478	ENST00000001008	D	0.81821	-1.54	4.13	2.22	0.28083	.	1.673620	0.02925	N	0.138476	T	0.67239	0.2872	N	0.24115	0.695	0.09310	N	1	B	0.34103	0.437	B	0.28553	0.091	T	0.54840	-0.8233	10	0.19147	T	0.46	0.9965	7.0363	0.24995	0.0:0.7727:0.0:0.2273	.	438	Q02790	FKBP4_HUMAN	R	438	ENSP00000001008:T438R	ENSP00000001008:T438R	T	+	2	0	FKBP4	2782618	0.000000	0.05858	0.017000	0.16124	0.246000	0.25737	0.288000	0.18939	0.378000	0.24764	0.561000	0.74099	ACA		0.557	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1			2	14	0	0	0	0.115264	0	2	14				
CSNK2A3	283106	broad.mit.edu	37	11	11373509	11373509	+	Silent	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr11:11373509G>A	ENST00000528848.2	-	1	1395	c.1158C>T	c.(1156-1158)gcC>gcT	p.A386A	GALNT18_ENST00000227756.4_Intron|RP11-567I13.1_ENST00000526867.1_RNA	NM_001256686.1	NP_001243615.1	Q8NEV1	CSK23_HUMAN	casein kinase 2, alpha 3 polypeptide	386					positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)										GAGCGCCAGTGGCAGCTGGAA	0.622																																						ENST00000528848.2																			0											c.(1156-1158)gcC>gcT		casein kinase 2, alpha 3 polypeptide																																				SO:0001819	synonymous_variant	283106							g.chr11:11373509G>A	X64692	CCDS59224.1	11p15.3	2013-01-18	2013-01-17	2013-01-17	ENSG00000254598	ENSG00000254598			2458	protein-coding gene	gene with protein product			"""casein kinase 2, alpha 1 polypeptide pseudogene"""	CSNK2A1P		12102635, 1610905, 20625391	Standard	NM_001256686		Approved		uc001mjp.4	Q8NEV1	OTTHUMG00000165708	ENST00000528848.2:c.1158C>T	11.37:g.11373509G>A						GALNT18_ENST00000227756.4_Intron	p.A386A	NM_001256686.1	NP_001243615.1					1	1395	-									Silent	SNP	ENST00000528848.2	37	c.1158C>T	CCDS59224.1																																																																																				0.622	CSNK2A3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385850.3	NM_001256686		7	12	0	0	0	0.248553	0	7	12				
SENP7	57337	broad.mit.edu	37	3	101049201	101049201	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr3:101049201A>G	ENST00000394095.2	-	20	2781	c.2728T>C	c.(2728-2730)Tct>Cct	p.S910P	SENP7_ENST00000394094.2_Missense_Mutation_p.S845P|SENP7_ENST00000394091.1_Missense_Mutation_p.S746P|SENP7_ENST00000348610.3_Missense_Mutation_p.S877P|SENP7_ENST00000314261.7_Missense_Mutation_p.S844P|SENP7_ENST00000358203.3_Missense_Mutation_p.S746P|SENP7_ENST00000394085.3_Missense_Mutation_p.S98P	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	910	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCACTCAAAGACAGTGTCGAA	0.328																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2728-2730)Tct>Cct		SUMO1/sentrin specific peptidase 7							106.0	103.0	104.0					3																	101049201		2203	4300	6503	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101049201A>G		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2728T>C	3.37:g.101049201A>G	ENSP00000377655:p.Ser910Pro					SENP7_ENST00000358203.3_Missense_Mutation_p.S746P|SENP7_ENST00000348610.3_Missense_Mutation_p.S877P|SENP7_ENST00000394085.3_Missense_Mutation_p.S98P|SENP7_ENST00000394094.2_Missense_Mutation_p.S845P|SENP7_ENST00000314261.7_Missense_Mutation_p.S844P|SENP7_ENST00000394091.1_Missense_Mutation_p.S746P	p.S910P	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			20	2781	-			910			Protease.		A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.2728T>C	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	A	13.50	2.256085	0.39896	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000394085;ENST00000348610	T;T;T;T;T;T;T	0.31510	2.13;2.14;2.14;2.12;2.12;1.49;2.14	5.46	4.28	0.50868	.	0.555479	0.19217	N	0.119786	T	0.44286	0.1286	L	0.51914	1.62	0.09310	N	1	D;D;D;D;P	0.60160	0.969;0.987;0.984;0.98;0.728	P;P;P;P;B	0.62649	0.656;0.905;0.844;0.821;0.24	T	0.24621	-1.0155	10	0.62326	D	0.03	-0.2449	9.4605	0.38781	0.8212:0.1788:0.0:0.0	.	746;844;877;910;98	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6;Q9BQF6-3	.;.;.;SENP7_HUMAN;.	P	910;845;844;746;746;98;877	ENSP00000377655:S910P;ENSP00000377654:S845P;ENSP00000313624:S844P;ENSP00000377651:S746P;ENSP00000350936:S746P;ENSP00000377647:S98P;ENSP00000342159:S877P	ENSP00000313624:S844P	S	-	1	0	SENP7	102531891	0.284000	0.24287	0.006000	0.13384	0.327000	0.28475	1.405000	0.34635	0.884000	0.36064	0.383000	0.25322	TCT		0.328	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		3	98	0	0	0	0.184627	0	3	98				
ZNF845	91664	broad.mit.edu	37	19	53855284	53855284	+	Silent	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:53855284G>A	ENST00000595091.1	+	5	1575	c.1356G>A	c.(1354-1356)tcG>tcA	p.S452S	ZNF845_ENST00000458035.1_Silent_p.S452S			Q96IR2	ZN845_HUMAN	zinc finger protein 845	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S452S(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCGAACCTTGAAA	0.398																																						ENST00000458035.1																			2	Substitution - coding silent(2)	p.S452S(2)	prostate(1)|kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1354-1356)tcG>tcA		zinc finger protein 845							26.0	24.0	25.0					19																	53855284		692	1590	2282	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855284G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1356G>A	19.37:g.53855284G>A						ZNF845_ENST00000595091.1_Silent_p.S452S	p.S452S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1473	+			452						Silent	SNP	ENST00000595091.1	37	c.1356G>A	CCDS46170.1																																																																																				0.398	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		5	164	0	0	0	0.184627	0	5	164				
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1																			4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															116.0	62.0	82.0					15																	20644850		1509	2699	4208			0							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A														0	3097	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		4	130	0	0	0	0.150653	0	4	130				
MAP1A	4130	broad.mit.edu	37	15	43821219	43821219	+	Silent	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr15:43821219G>A	ENST00000300231.5	+	4	7998	c.7548G>A	c.(7546-7548)ccG>ccA	p.P2516P	MAP1A_ENST00000399453.1_Silent_p.P2516P|MAP1A_ENST00000382031.1_Silent_p.P2754P			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2516					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CTGATGTCCCGCCAGAAACTG	0.592																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(8260-8262)ccG>ccA		microtubule-associated protein 1A	Estramustine(DB01196)						97.0	100.0	99.0					15																	43821219		2023	4184	6207	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43821219G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.7548G>A	15.37:g.43821219G>A						MAP1A_ENST00000399453.1_Silent_p.P2516P|MAP1A_ENST00000300231.5_Silent_p.P2516P	p.P2754P			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	8293	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2516					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.8262G>A	CCDS42031.1																																																																																				0.592	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		4	208	0	0	0	0.184627	0	4	208				
LOC728715	728715	broad.mit.edu	37	12	9713413	9713413	+	RNA	SNP	A	A	G	rs200950634		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr12:9713413A>G	ENST00000520314.1	+	0	608																											TGTATTACAGACTCAGTGCTC	0.358																																						ENST00000520314.1																			0																																																			0							g.chr12:9713413A>G																													12.37:g.9713413A>G														0	608	+									RNA	SNP	ENST00000520314.1	37																																																																																						0.358	RP11-726G1.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000381543.1			3	8	0	0	0	0.184627	0	3	8				
RALGAPA1	253959	broad.mit.edu	37	14	36039876	36039876	+	Silent	SNP	T	T	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr14:36039876T>G	ENST00000389698.3	-	38	6315	c.5925A>C	c.(5923-5925)acA>acC	p.T1975T	RALGAPA1_ENST00000382366.3_Silent_p.T1988T|RALGAPA1_ENST00000258840.6_Silent_p.T2022T|RALGAPA1_ENST00000307138.6_Silent_p.T1975T	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1975	Minimal domain that binds to TCF3/E12. {ECO:0000250}.|Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.T1975T(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATTTATAGCTGTTGCTCTAA	0.363																																						ENST00000258840.6																			2	Substitution - coding silent(2)	p.T1975T(2)	prostate(2)	breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(6064-6066)acA>acC		Ral GTPase activating protein, alpha subunit 1 (catalytic)							54.0	51.0	52.0					14																	36039876		2203	4297	6500	SO:0001819	synonymous_variant	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36039876T>G	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.5925A>C	14.37:g.36039876T>G						RALGAPA1_ENST00000389698.3_Silent_p.T1975T|RALGAPA1_ENST00000382366.3_Silent_p.T1988T|RALGAPA1_ENST00000307138.6_Silent_p.T1975T	p.T2022T			Q6GYQ0	RGPA1_HUMAN			39	6456	-			1975			Minimal domain that binds to TCF3/E12 (By similarity).		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Silent	SNP	ENST00000389698.3	37	c.6066A>C	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	T	9.573	1.121586	0.20877	.	.	ENSG00000174373	ENST00000554573	.	.	.	5.96	4.81	0.61882	.	.	.	.	.	T	0.65133	0.2662	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62932	-0.6749	4	.	.	.	-16.1049	12.6772	0.56901	0.1237:0.0:0.0:0.8763	.	.	.	.	P	258	.	.	Q	-	2	0	RALGAPA1	35109627	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.202000	0.42743	1.063000	0.40649	0.533000	0.62120	CAG		0.363	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		4	66	0	0	0	0.217242	0	4	66				
OR4A16	81327	broad.mit.edu	37	11	55110845	55110845	+	Missense_Mutation	SNP	A	A	G	rs200889979		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr11:55110845A>G	ENST00000314721.2	+	1	219	c.169A>G	c.(169-171)Atg>Gtg	p.M57V		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M57V(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GGGCTCCCTAATGTACTTCTT	0.408																																						ENST00000314721.2																			1	Substitution - Missense(1)	p.M57V(1)	prostate(1)	NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(169-171)Atg>Gtg		olfactory receptor, family 4, subfamily A, member 16							146.0	139.0	141.0					11																	55110845		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55110845A>G	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.169A>G	11.37:g.55110845A>G	ENSP00000325128:p.Met57Val						p.M57V	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	219	+			57					Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.169A>G	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	a	5.761	0.324873	0.10900	.	.	ENSG00000181961	ENST00000314721	T	0.09350	2.99	2.57	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.20820	0.0501	M	0.92412	3.305	0.32258	N	0.570478	B	0.21520	0.057	B	0.21360	0.034	T	0.14952	-1.0454	9	0.72032	D	0.01	.	8.6087	0.33789	1.0:0.0:0.0:0.0	.	57	Q8NH70	O4A16_HUMAN	V	57	ENSP00000325128:M57V	ENSP00000325128:M57V	M	+	1	0	OR4A16	54867421	1.000000	0.71417	0.942000	0.38095	0.044000	0.14063	5.813000	0.69201	1.186000	0.42985	0.346000	0.21813	ATG		0.408	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		9	257	0	0	0	0.335167	0	9	257				
L3HYPDH	112849	broad.mit.edu	37	14	59942813	59942813	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr14:59942813T>G	ENST00000247194.4	-	3	911	c.798A>C	c.(796-798)gaA>gaC	p.E266D	L3HYPDH_ENST00000487285.1_Missense_Mutation_p.E95D|L3HYPDH_ENST00000543619.1_5'Flank	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	266					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)	p.E266D(1)								L-Proline(DB00172)	TTAATACCTGTTCATCTGCAA	0.348																																						ENST00000247194.4																			1	Substitution - Missense(1)	p.E266D(1)	prostate(1)								c.(796-798)gaA>gaC		L-3-hydroxyproline dehydratase (trans-)							139.0	147.0	144.0					14																	59942813		2203	4300	6503	SO:0001583	missense	112849							g.chr14:59942813T>G	AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"""trans-L-3-hydroxyproline dehydratase"""	614811	"""chromosome 14 open reading frame 149"""	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.798A>C	14.37:g.59942813T>G	ENSP00000247194:p.Glu266Asp					L3HYPDH_ENST00000487285.1_Missense_Mutation_p.E95D	p.E266D	NM_144581.1	NP_653182.1					3	911	-								Q96LJ5	Missense_Mutation	SNP	ENST00000247194.4	37	c.798A>C	CCDS9739.1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.823609	0.32237	.	.	ENSG00000126790	ENST00000247194;ENST00000487285;ENST00000481608	T;T;T	0.16597	2.33;2.33;2.33	5.57	-0.247	0.13019	.	0.391047	0.29653	N	0.011551	T	0.08802	0.0218	N	0.24115	0.695	0.34015	D	0.651973	B	0.06786	0.001	B	0.09377	0.004	T	0.31336	-0.9947	10	0.18710	T	0.47	.	7.7321	0.28793	0.0:0.1375:0.484:0.3785	.	266	Q96EM0	PRCM_HUMAN	D	266;95;95	ENSP00000247194:E266D;ENSP00000431608:E95D;ENSP00000423874:E95D	ENSP00000247194:E266D	E	-	3	2	C14orf149	59012566	0.653000	0.27358	0.952000	0.39060	0.893000	0.52053	-0.333000	0.07894	0.020000	0.15106	-0.435000	0.05868	GAA		0.348	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581		8	362	0	0	0	0.307466	0	8	362				
TAOK3	51347	broad.mit.edu	37	12	118693297	118693297	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr12:118693297C>A	ENST00000392533.3	-	3	566	c.76G>T	c.(76-78)Ggt>Tgt	p.G26C	TAOK3_ENST00000419821.2_Missense_Mutation_p.G26C	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	26	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATGCAAACCAATAAAAAGT	0.403																																						ENST00000392533.3																			0				central_nervous_system(1)|lung(5)|skin(1)	7						c.(76-78)Ggt>Tgt		TAO kinase 3							116.0	118.0	118.0					12																	118693297		2203	4300	6503	SO:0001583	missense	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118693297C>A	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.76G>T	12.37:g.118693297C>A	ENSP00000376317:p.Gly26Cys					TAOK3_ENST00000419821.2_Missense_Mutation_p.G26C	p.G26C	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN			3	566	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		26			Protein kinase.		Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	c.76G>T	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741726	0.89573	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000535570;ENST00000541186;ENST00000541878;ENST00000542902;ENST00000542532	T;T;T;T;T;T	0.42900	1.86;1.86;1.86;1.86;0.96;0.96	4.69	4.69	0.59074	Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.182239	0.48286	D	0.000200	T	0.52322	0.1727	L	0.33339	1.005	0.80722	D	1	P	0.42649	0.786	P	0.57548	0.823	T	0.56384	-0.7988	10	0.87932	D	0	.	17.8228	0.88655	0.0:1.0:0.0:0.0	.	26	Q9H2K8	TAOK3_HUMAN	C	26	ENSP00000416374:G26C;ENSP00000376317:G26C;ENSP00000443465:G26C;ENSP00000438820:G26C;ENSP00000444057:G26C;ENSP00000440315:G26C	ENSP00000376317:G26C	G	-	1	0	TAOK3	117177680	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.320000	0.79064	2.445000	0.82738	0.655000	0.94253	GGT		0.403	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		4	314	1	0	0.014758	0.184627	0.0162716	4	314				
RHOBTB3	22836	broad.mit.edu	37	5	95128826	95128826	+	Missense_Mutation	SNP	C	C	T	rs148767115		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr5:95128826C>T	ENST00000379982.3	+	12	2292	c.1784C>T	c.(1783-1785)gCg>gTg	p.A595V	GLRX_ENST00000508780.1_Intron|GLRX_ENST00000507605.1_Intron|RHOBTB3_ENST00000504179.1_Missense_Mutation_p.A226V	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	595	Interaction with Rab9.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		AAGCAGCTTGCGGAATACAGG	0.363																																						ENST00000379982.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16						c.(1783-1785)gCg>gTg		Rho-related BTB domain containing 3		C	VAL/ALA	0,4406		0,0,2203	120.0	117.0	118.0		1784	6.2	1.0	5	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	missense	RHOBTB3	NM_014899.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	595/612	95128826	1,13005	2203	4300	6503	SO:0001583	missense	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95128826C>T	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.1784C>T	5.37:g.95128826C>T	ENSP00000369318:p.Ala595Val					RHOBTB3_ENST00000504179.1_Missense_Mutation_p.A226V|GLRX_ENST00000508780.1_Intron|GLRX_ENST00000507605.1_Intron	p.A595V	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	12	2292	+		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	595			Interaction with Rab9.		A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	ENST00000379982.3	37	c.1784C>T	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220119	0.79464	0.0	1.16E-4	ENSG00000164292	ENST00000379982;ENST00000504179	T;T	0.74632	-0.11;-0.86	6.17	6.17	0.99709	.	0.207799	0.51477	D	0.000092	T	0.73450	0.3588	L	0.44542	1.39	0.80722	D	1	D	0.58268	0.982	P	0.44772	0.46	T	0.74711	-0.3573	10	0.54805	T	0.06	-17.23	20.4745	0.99168	0.0:1.0:0.0:0.0	.	595	O94955	RHBT3_HUMAN	V	595;226	ENSP00000369318:A595V;ENSP00000422360:A226V	ENSP00000369318:A595V	A	+	2	0	RHOBTB3	95154582	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	4.662000	0.61525	2.941000	0.99782	0.655000	0.94253	GCG		0.363	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		4	149	0	0	0	0.184627	0	4	149				
WDR72	256764	broad.mit.edu	37	15	54006701	54006701	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr15:54006701G>T	ENST00000396328.1	-	6	760	c.521C>A	c.(520-522)tCt>tAt	p.S174Y	WDR72_ENST00000557913.1_Missense_Mutation_p.S173Y|WDR72_ENST00000559418.1_Missense_Mutation_p.S174Y|WDR72_ENST00000360509.5_Missense_Mutation_p.S174Y	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	174								p.S174Y(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CACCAAGAGAGAATCTTCTGT	0.383																																						ENST00000396328.1																			1	Substitution - Missense(1)	p.S174Y(1)	prostate(1)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(520-522)tCt>tAt		WD repeat domain 72							85.0	84.0	85.0					15																	54006701		2194	4293	6487	SO:0001583	missense	256764							g.chr15:54006701G>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.521C>A	15.37:g.54006701G>T	ENSP00000379619:p.Ser174Tyr					WDR72_ENST00000559418.1_Missense_Mutation_p.S174Y|WDR72_ENST00000360509.5_Missense_Mutation_p.S174Y|WDR72_ENST00000557913.1_Missense_Mutation_p.S173Y	p.S174Y	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	6	760	-			174					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.521C>A	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844588	0.71488	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.01221	5.15;5.15	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.07369	0.0186	M	0.63428	1.95	0.42862	D	0.994118	D	0.89917	1.0	D	0.87578	0.998	T	0.52087	-0.8622	10	0.20519	T	0.43	.	19.2063	0.93732	0.0:0.0:1.0:0.0	.	174	Q3MJ13	WDR72_HUMAN	Y	174	ENSP00000379619:S174Y;ENSP00000353699:S174Y	ENSP00000353699:S174Y	S	-	2	0	WDR72	51793993	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.705000	0.61838	2.785000	0.95823	0.655000	0.94253	TCT		0.383	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		14	119	1	0	1.15088e-07	0.500413	1.33751e-07	14	119				
LILRB5	10990	broad.mit.edu	37	19	54754760	54754760	+	Missense_Mutation	SNP	C	C	T	rs112549096	byFrequency	TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:54754760C>T	ENST00000316219.5	-	13	1770	c.1663G>A	c.(1663-1665)Gcc>Acc	p.A555T	LILRB5_ENST00000449561.2_Missense_Mutation_p.A556T|LILRB5_ENST00000450632.1_3'UTR|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000345866.6_Missense_Mutation_p.A456T	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	555					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.A555T(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTAGCTGGGCGTAGGTCACA	0.652																																						ENST00000316219.5																			1	Substitution - Missense(1)	p.A555T(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1663-1665)Gcc>Acc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5		C	THR/ALA,THR/ALA,THR/ALA	1,4403	2.1+/-5.4	0,1,2201	51.0	54.0	53.0		1666,1366,1663	-0.7	0.0	19	dbSNP_132	53	3,8581	3.0+/-9.4	0,3,4289	no	missense,missense,missense	LILRB5	NM_001081442.1,NM_001081443.1,NM_006840.3	58,58,58	0,4,6490	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging,probably-damaging,probably-damaging	556/592,456/492,555/591	54754760	4,12984	2202	4292	6494	SO:0001583	missense	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754760C>T	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1663G>A	19.37:g.54754760C>T	ENSP00000320390:p.Ala555Thr					LILRB5_ENST00000345866.6_Missense_Mutation_p.A456T|LILRB5_ENST00000449561.2_Missense_Mutation_p.A556T|LILRB5_ENST00000450632.1_3'UTR	p.A555T	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1770	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		555					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1663G>A	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741144	0.49151	2.27E-4	3.49E-4	ENSG00000105609	ENST00000316219;ENST00000449561;ENST00000345866	T;T;T	0.00705	6.34;6.36;5.81	2.75	-0.704	0.11256	.	.	.	.	.	T	0.02688	0.0081	M	0.72894	2.215	0.09310	N	1	D;P;D	0.89917	1.0;0.938;0.998	D;B;P	0.77004	0.989;0.248;0.68	T	0.41161	-0.9524	9	0.87932	D	0	.	4.9814	0.14166	0.0:0.5222:0.0:0.4778	.	456;556;555	O75023-2;O75023-3;O75023	.;.;LIRB5_HUMAN	T	555;556;456	ENSP00000320390:A555T;ENSP00000406478:A556T;ENSP00000263430:A456T	ENSP00000320390:A555T	A	-	1	0	LILRB5	59446572	0.067000	0.21026	0.003000	0.11579	0.380000	0.30137	0.176000	0.16782	0.072000	0.16694	-0.225000	0.12378	GCC		0.652	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			8	73	0	0	0	0.278610	0	8	73				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	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.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		5	109	0	0	0	0.217242	0	5	109				
TTN	7273	broad.mit.edu	37	2	179579856	179579856	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr2:179579856C>T	ENST00000591111.1	-	88	25330	c.25106G>A	c.(25105-25107)gGc>gAc	p.G8369D	TTN_ENST00000589042.1_Missense_Mutation_p.G8686D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7442D|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12543	Ig-like 66.				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)	p.G7442D(1)		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)			GTACTTCTTGCCGCTCCTAAG	0.443																																						ENST00000589042.1																			1	Substitution - Missense(1)	p.G7442D(1)	lung(1)	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.(26056-26058)gGc>gAc		titin							327.0	308.0	314.0					2																	179579856		1930	4126	6056	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179579856C>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.25106G>A	2.37:g.179579856C>T	ENSP00000465570:p.Gly8369Asp					TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G8369D|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7442D|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	p.G8686D	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)		90	26281	-			8369			Ig-like 69.		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.26057G>A		.	.	.	.	.	.	.	.	.	.	C	16.73	3.205284	0.58234	.	.	ENSG00000155657	ENST00000342992	T	0.41400	1.0	5.62	5.62	0.85841	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39963	0.1098	N	0.25825	0.765	0.80722	D	1	B	0.29671	0.254	B	0.35770	0.21	T	0.34925	-0.9809	9	0.87932	D	0	.	19.6592	0.95857	0.0:1.0:0.0:0.0	.	8369	Q8WZ42	TITIN_HUMAN	D	7442	ENSP00000343764:G7442D	ENSP00000343764:G7442D	G	-	2	0	TTN	179288101	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.672000	0.46850	2.653000	0.90120	0.655000	0.94253	GGC		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	561	0	0	0	0.248553	0	6	561				
EOMES	8320	broad.mit.edu	37	3	27761814	27761814	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr3:27761814C>T	ENST00000295743.4	-	2	1087	c.884G>A	c.(883-885)cGc>cAc	p.R295H	EOMES_ENST00000449599.1_Missense_Mutation_p.R295H|EOMES_ENST00000537516.1_5'UTR|EOMES_ENST00000461503.1_5'UTR			O95936	EOMES_HUMAN	eomesodermin	295					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						AGGAAACATGCGCCTGTGCAA	0.532																																						ENST00000295743.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						c.(883-885)cGc>cAc		eomesodermin							92.0	97.0	95.0					3																	27761814		2203	4300	6503	SO:0001583	missense	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27761814C>T	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.884G>A	3.37:g.27761814C>T	ENSP00000295743:p.Arg295His					EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000449599.1_Missense_Mutation_p.R295H|EOMES_ENST00000537516.1_5'UTR	p.R295H			O95936	EOMES_HUMAN			2	1087	-			295					B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	ENST00000295743.4	37	c.884G>A	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846803	0.91277	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000535713	D;D	0.91180	-2.8;-2.8	4.74	4.74	0.60224	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96981	0.9014	H	0.96208	3.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.984;0.993	D	0.98340	1.0538	10	0.87932	D	0	.	17.9174	0.88955	0.0:1.0:0.0:0.0	.	295;295;295	F5H3K1;G3XAI5;O95936	.;.;EOMES_HUMAN	H	295;295;160	ENSP00000295743:R295H;ENSP00000388620:R295H	ENSP00000295743:R295H	R	-	2	0	EOMES	27736818	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.590000	0.82653	2.449000	0.82847	0.563000	0.77884	CGC		0.532	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		4	202	0	0	0	0.150653	0	4	202				
ADNP2	22850	broad.mit.edu	37	18	77895268	77895268	+	Missense_Mutation	SNP	G	G	A	rs572333470		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr18:77895268G>A	ENST00000262198.4	+	4	2427	c.1972G>A	c.(1972-1974)Ggc>Agc	p.G658S		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	658					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G658S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TTCCATGCCCGGCATGCCCTC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		20284	0.0		0.0	False		,,,				2504	0.001					ENST00000262198.4																			1	Substitution - Missense(1)	p.G658S(1)	prostate(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(1972-1974)Ggc>Agc		ADNP homeobox 2							75.0	67.0	69.0					18																	77895268		2203	4300	6503	SO:0001583	missense	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77895268G>A	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.1972G>A	18.37:g.77895268G>A	ENSP00000262198:p.Gly658Ser						p.G658S	NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	2427	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	658					A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	c.1972G>A	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.301098	0.00243	.	.	ENSG00000101544	ENST00000262198	.	.	.	4.86	-1.77	0.07982	.	0.507797	0.18998	N	0.125431	T	0.18425	0.0442	N	0.04297	-0.235	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.18555	-1.0333	8	.	.	.	-2.5949	13.93	0.63989	0.8458:0.0:0.1542:0.0	.	658	Q6IQ32	ADNP2_HUMAN	S	658	.	.	G	+	1	0	ADNP2	75996259	0.000000	0.05858	0.009000	0.14445	0.017000	0.09413	0.316000	0.19469	-0.623000	0.05618	-0.142000	0.14014	GGC		0.632	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		3	69	0	0	0	0.115264	0	3	69				
LOC645752	645752	broad.mit.edu	37	15	78219116	78219116	+	RNA	SNP	G	G	C	rs114659056	byFrequency	TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr15:78219116G>C	ENST00000567226.1	-	0	72																											TTGTTCCATCGAGTTTCTTCT	0.532																																						ENST00000567226.1																			0																																																			0							g.chr15:78219116G>C																													15.37:g.78219116G>C														0	72	-									RNA	SNP	ENST00000567226.1	37																																																																																						0.532	RP11-114H24.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000421586.1			11	83	0	0	0	0.411799	0	11	83				
ANK2	287	broad.mit.edu	37	4	114161711	114161711	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr4:114161711G>A	ENST00000357077.4	+	8	817	c.764G>A	c.(763-765)cGg>cAg	p.R255Q	ANK2_ENST00000506722.1_Missense_Mutation_p.R234Q|ANK2_ENST00000394537.3_Missense_Mutation_p.R255Q|ANK2_ENST00000264366.6_Missense_Mutation_p.R255Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	255					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|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 heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R255Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTTCTAAACCGGGGAGCTGCT	0.393																																						ENST00000357077.4																			1	Substitution - Missense(1)	p.R255Q(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(763-765)cGg>cAg		ankyrin 2, neuronal							125.0	117.0	120.0					4																	114161711		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114161711G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.764G>A	4.37:g.114161711G>A	ENSP00000349588:p.Arg255Gln					ANK2_ENST00000506722.1_Missense_Mutation_p.R234Q|ANK2_ENST00000394537.3_Missense_Mutation_p.R255Q|ANK2_ENST00000264366.6_Missense_Mutation_p.R255Q	p.R255Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	8	817	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	255					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.764G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	31	5.075126	0.94000	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.64260	-0.09;0.64;0.64;0.64;0.64;2.5;2.5	5.5	5.5	0.81552	Ankyrin repeat-containing domain (3);	0.000000	0.44902	D	0.000417	T	0.64571	0.2610	N	0.10645	0.015	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;D	0.91635	0.999;0.991;0.999;0.995;0.988	T	0.69405	-0.5154	10	0.41790	T	0.15	.	19.3646	0.94456	0.0:0.0:1.0:0.0	.	255;255;255;234;234	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	Q	234;234;234;270;255;255;255;234	ENSP00000423799:R234Q;ENSP00000421011:R234Q;ENSP00000421067:R234Q;ENSP00000424722:R270Q;ENSP00000378044:R255Q;ENSP00000349588:R255Q;ENSP00000264366:R255Q	ENSP00000264366:R255Q	R	+	2	0	ANK2	114381160	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.809000	0.86057	2.740000	0.93945	0.650000	0.86243	CGG		0.393	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		30	175	0	0	0	0.796494	0	30	175				
PLA2G4A	5321	broad.mit.edu	37	1	186915809	186915809	+	Silent	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:186915809A>G	ENST00000367466.3	+	11	1226	c.1074A>G	c.(1072-1074)aaA>aaG	p.K358K	PLA2G4A_ENST00000442353.2_Silent_p.K298K	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	358	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.K358K(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	GCATGGCTAAATATGGTACTT	0.358																																						ENST00000367466.3																			2	Substitution - coding silent(2)	p.K358K(2)	prostate(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53						c.(1072-1074)aaA>aaG		phospholipase A2, group IVA (cytosolic, calcium-dependent)	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						97.0	96.0	96.0					1																	186915809		2203	4298	6501	SO:0001819	synonymous_variant	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186915809A>G	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1074A>G	1.37:g.186915809A>G						PLA2G4A_ENST00000442353.2_Silent_p.K298K	p.K358K	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN			11	1226	+			358			PLA2c.		B1AKG4|Q29R80	Silent	SNP	ENST00000367466.3	37	c.1074A>G	CCDS1372.1																																																																																				0.358	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		23	121	0	0	0	0.740014	0	23	121				
HUWE1	10075	broad.mit.edu	37	X	53657925	53657925	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chrX:53657925T>C	ENST00000342160.3	-	11	1281	c.824A>G	c.(823-825)cAg>cGg	p.Q275R	HUWE1_ENST00000218328.8_Missense_Mutation_p.Q275R|HUWE1_ENST00000262854.6_Missense_Mutation_p.Q275R			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	275					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGAACTGCCTGCAATCGCTT	0.393																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(823-825)cAg>cGg		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							81.0	74.0	76.0					X																	53657925		2203	4299	6502	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53657925T>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.824A>G	X.37:g.53657925T>C	ENSP00000340648:p.Gln275Arg					HUWE1_ENST00000218328.8_Missense_Mutation_p.Q275R|HUWE1_ENST00000262854.6_Missense_Mutation_p.Q275R	p.Q275R			Q7Z6Z7	HUWE1_HUMAN			11	1281	-			275					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.824A>G	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.917423	0.52546	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.64991	-0.13;-0.13;0.88	4.81	4.81	0.61882	E3 ubiquitin ligase, domain of unknown function DUF908 (1);Armadillo-type fold (1);	0.237456	0.34725	N	0.003725	T	0.48352	0.1495	N	0.20574	0.59	0.53005	D	0.99996	P	0.37573	0.6	B	0.39299	0.296	T	0.48514	-0.9029	10	0.33940	T	0.23	.	12.4765	0.55817	0.0:0.0:0.0:1.0	.	275	Q7Z6Z7	HUWE1_HUMAN	R	275	ENSP00000340648:Q275R;ENSP00000262854:Q275R;ENSP00000218328:Q275R	ENSP00000218328:Q275R	Q	-	2	0	HUWE1	53674650	1.000000	0.71417	0.992000	0.48379	0.948000	0.59901	7.313000	0.78978	1.788000	0.52465	0.486000	0.48141	CAG		0.393	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		3	112	0	0	0	0.150653	0	3	112				
HYAL3	8372	broad.mit.edu	37	3	50332156	50332156	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr3:50332156C>A	ENST00000336307.1	-	2	1150	c.878G>T	c.(877-879)gGg>gTg	p.G293V	IFRD2_ENST00000417626.2_5'Flank|IFRD2_ENST00000336089.4_5'Flank|HYAL3_ENST00000415204.1_Missense_Mutation_p.G44V|IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000429673.2_5'Flank|HYAL3_ENST00000359051.3_Missense_Mutation_p.G293V|HYAL3_ENST00000450982.1_Missense_Mutation_p.G293V|HYAL3_ENST00000513170.1_Missense_Mutation_p.G44V|IFRD2_ENST00000436390.1_5'Flank	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	293					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)|response to virus (GO:0009615)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|lysosome (GO:0005764)	hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)	p.G293V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAGGAACCTCCCAGATCTCCG	0.612																																						ENST00000336307.1																			1	Substitution - Missense(1)	p.G293V(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(877-879)gGg>gTg		hyaluronoglucosaminidase 3							60.0	59.0	59.0					3																	50332156		2203	4300	6503	SO:0001583	missense	8372				carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity	g.chr3:50332156C>A	AF040710	CCDS2815.1, CCDS56259.1, CCDS56260.1, CCDS56257.1	3p21.3	2004-03-12			ENSG00000186792	ENSG00000186792			5322	protein-coding gene	gene with protein product		604038				10493834	Standard	NM_003549		Approved	LUCA-3, LUCA14, Minna14	uc021wyn.1	O43820	OTTHUMG00000156936	ENST00000336307.1:c.878G>T	3.37:g.50332156C>A	ENSP00000337425:p.Gly293Val					HYAL3_ENST00000359051.3_Missense_Mutation_p.G293V|HYAL3_ENST00000513170.1_Missense_Mutation_p.G44V|HYAL3_ENST00000450982.1_Missense_Mutation_p.G293V|HYAL3_ENST00000415204.1_Missense_Mutation_p.G44V	p.G293V	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	2	1150	-			293					O60540|Q8NFK2|Q8NFK3|Q8NFK4|Q96E56|Q9BRW9	Missense_Mutation	SNP	ENST00000336307.1	37	c.878G>T	CCDS2815.1	.	.	.	.	.	.	.	.	.	.	C	9.690	1.151650	0.21371	.	.	ENSG00000186792	ENST00000359051;ENST00000336307;ENST00000415204;ENST00000513170;ENST00000450982	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.26	4.39	0.52855	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.524546	0.17242	U	0.181517	T	0.16981	0.0408	L	0.49455	1.56	0.32113	N	0.589059	P;P;P;P	0.41848	0.634;0.493;0.684;0.763	B;B;B;B	0.36845	0.234;0.085;0.197;0.178	T	0.17837	-1.0356	10	0.36615	T	0.2	-13.5646	6.5225	0.22283	0.1796:0.7285:0.0:0.0919	.	44;44;293;293	O43820-4;O43820-3;O43820;O43820-2	.;.;HYAL3_HUMAN;.	V	293;293;44;44;293	ENSP00000351946:G293V;ENSP00000337425:G293V;ENSP00000401092:G44V;ENSP00000424633:G44V;ENSP00000391922:G293V	ENSP00000337425:G293V	G	-	2	0	HYAL3	50307160	0.000000	0.05858	0.962000	0.40283	0.984000	0.73092	0.372000	0.20467	1.218000	0.43458	0.563000	0.77884	GGG		0.612	HYAL3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000346664.1	NM_003549		27	119	1	0	5.45727e-16	0.729181	6.70464e-16	27	119				
ISLR2	57611	broad.mit.edu	37	15	74426317	74426317	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr15:74426317G>A	ENST00000361742.3	+	4	1991	c.1222G>A	c.(1222-1224)Gtc>Atc	p.V408I	ISLR2_ENST00000565540.1_Missense_Mutation_p.V408I|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.V408I|ISLR2_ENST00000435464.1_Missense_Mutation_p.V408I|ISLR2_ENST00000453268.2_Missense_Mutation_p.V408I|ISLR2_ENST00000419208.1_Missense_Mutation_p.V408I|ISLR2_ENST00000445793.1_Missense_Mutation_p.V408I	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	408					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V408I(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GGGCAACAGCGTCCTGCCTTC	0.662																																						ENST00000361742.3																			1	Substitution - Missense(1)	p.V408I(1)	prostate(1)	breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(1222-1224)Gtc>Atc		immunoglobulin superfamily containing leucine-rich repeat 2							16.0	17.0	17.0					15																	74426317		2194	4293	6487	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74426317G>A		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.1222G>A	15.37:g.74426317G>A	ENSP00000355402:p.Val408Ile					ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Missense_Mutation_p.V408I|ISLR2_ENST00000445793.1_Missense_Mutation_p.V408I|ISLR2_ENST00000565540.1_Missense_Mutation_p.V408I|ISLR2_ENST00000419208.1_Missense_Mutation_p.V408I|ISLR2_ENST00000565159.1_Missense_Mutation_p.V408I|ISLR2_ENST00000435464.1_Missense_Mutation_p.V408I	p.V408I	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN			4	1991	+			408					A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.1222G>A	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931156	0.52866	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000419208	T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38	4.52	4.52	0.55395	.	0.073296	0.52532	D	0.000066	T	0.43612	0.1255	L	0.27053	0.805	0.46954	D	0.999264	D	0.59767	0.986	B	0.43155	0.41	T	0.49698	-0.8912	10	0.51188	T	0.08	.	16.8231	0.85923	0.0:0.0:1.0:0.0	.	408	Q6UXK2	ISLR2_HUMAN	I	408	ENSP00000403244:V408I;ENSP00000355402:V408I;ENSP00000411443:V408I;ENSP00000411834:V408I;ENSP00000408872:V408I	ENSP00000355402:V408I	V	+	1	0	ISLR2	72213370	1.000000	0.71417	0.820000	0.32676	0.905000	0.53344	4.923000	0.63412	2.077000	0.62373	0.313000	0.20887	GTC		0.662	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		3	19	0	0	0	0.115264	0	3	19				
MKNK2	2872	broad.mit.edu	37	19	2041132	2041132	+	Silent	SNP	G	G	A	rs537824868		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:2041132G>A	ENST00000591601.1	-	11	1052	c.1017C>T	c.(1015-1017)tgC>tgT	p.C339C	MKNK2_ENST00000541165.1_Silent_p.C208C|MKNK2_ENST00000591588.1_Silent_p.C83C|MKNK2_ENST00000591142.1_Silent_p.C83C|MKNK2_ENST00000250896.3_Silent_p.C339C|MKNK2_ENST00000588014.1_Silent_p.C83C|MKNK2_ENST00000309340.7_Silent_p.C339C			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	339	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTTGGCAGCGCAGGAGATGT	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		18889	0.0		0.0	False		,,,				2504	0.001					ENST00000250896.3																			0				breast(1)|kidney(3)|large_intestine(3)|lung(3)	10						c.(1015-1017)tgC>tgT		MAP kinase interacting serine/threonine kinase 2							191.0	145.0	161.0					19																	2041132		2203	4300	6503	SO:0001819	synonymous_variant	2872				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr19:2041132G>A	AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"""Putative map kinase interacting kinase"""	605069	"""G protein-coupled receptor kinase 7"""	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.1017C>T	19.37:g.2041132G>A						MKNK2_ENST00000309340.7_Silent_p.C339C|MKNK2_ENST00000591588.1_Silent_p.C83C|MKNK2_ENST00000591142.1_Silent_p.C83C|MKNK2_ENST00000588014.1_Silent_p.C83C|MKNK2_ENST00000541165.1_Silent_p.C208C|MKNK2_ENST00000591601.1_Silent_p.C339C	p.C339C	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1261	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	339			Protein kinase.		Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Silent	SNP	ENST00000591601.1	37	c.1017C>T	CCDS12080.1																																																																																				0.597	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1	NM_199054		4	156	0	0	0	0.217242	0	4	156				
LILRB1	10859	broad.mit.edu	37	19	55148219	55148219	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:55148219G>A	ENST00000396331.1	+	16	2200	c.1843G>A	c.(1843-1845)Gcc>Acc	p.A615T	LILRB1_ENST00000396332.4_Missense_Mutation_p.A616T|LILRB1_ENST00000434867.2_Missense_Mutation_p.A615T|LILRB1_ENST00000396327.3_Missense_Mutation_p.A616T|LILRB1_ENST00000427581.2_Missense_Mutation_p.A666T|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.A615T|LILRB1_ENST00000418536.2_Missense_Mutation_p.A599T|LILRB1_ENST00000324602.7_Missense_Mutation_p.A617T|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396315.1_Missense_Mutation_p.A617T|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396317.1_Missense_Mutation_p.A599T	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	615					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TGTGACCTACGCCCAGCTGCA	0.667										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1843-1845)Gcc>Acc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							81.0	72.0	75.0					19																	55148219		2203	4300	6503	SO:0001583	missense	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55148219G>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1843G>A	19.37:g.55148219G>A	ENSP00000379622:p.Ala615Thr	HNSCC(37;0.09)				AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396317.1_Missense_Mutation_p.A599T|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000324602.7_Missense_Mutation_p.A617T|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396332.4_Missense_Mutation_p.A616T|LILRB1_ENST00000396321.2_Missense_Mutation_p.A615T|LILRB1_ENST00000396315.1_Missense_Mutation_p.A617T|LILRB1_ENST00000434867.2_Missense_Mutation_p.A615T|LILRB1_ENST00000418536.2_Missense_Mutation_p.A599T|LILRB1_ENST00000396327.3_Missense_Mutation_p.A616T|LILRB1_ENST00000427581.2_Missense_Mutation_p.A666T	p.A615T	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	16	2200	+			615					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1843G>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412833	0.42817	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T	0.00597	6.54;6.45;6.54;6.46;6.45;6.54;6.54;6.31;6.45;6.45	1.77	1.77	0.24775	.	.	.	.	.	T	0.02193	0.0068	M	0.77103	2.36	0.09310	N	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.972;0.999;0.989;0.999;0.946	T	0.40683	-0.9550	9	0.87932	D	0	.	7.0775	0.25213	0.0:0.0:1.0:0.0	.	599;617;616;616;615	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	T	615;599;615;616;617;615;616;666;599;617	ENSP00000379614:A615T;ENSP00000391514:A599T;ENSP00000379622:A615T;ENSP00000379618:A616T;ENSP00000315997:A617T;ENSP00000405243:A615T;ENSP00000379623:A616T;ENSP00000395004:A666T;ENSP00000379610:A599T;ENSP00000379608:A617T	ENSP00000315997:A617T	A	+	1	0	LILRB1	59840031	0.833000	0.29383	0.131000	0.22000	0.010000	0.07245	0.359000	0.20233	1.330000	0.45394	0.194000	0.17425	GCC		0.667	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			4	138	0	0	0	0.248553	0	4	138				
DNM1L	10059	broad.mit.edu	37	12	32871615	32871615	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr12:32871615A>G	ENST00000549701.1	+	7	732	c.658A>G	c.(658-660)Atg>Gtg	p.M220V	DNM1L_ENST00000547312.1_Missense_Mutation_p.M220V|DNM1L_ENST00000553257.1_Missense_Mutation_p.M233V|DNM1L_ENST00000452533.2_Missense_Mutation_p.M220V|DNM1L_ENST00000266481.6_Missense_Mutation_p.M220V|DNM1L_ENST00000358214.5_Missense_Mutation_p.M233V|DNM1L_ENST00000381000.4_Missense_Mutation_p.M233V|DNM1L_ENST00000414834.2_Intron			O00429	DNM1L_HUMAN	dynamin 1-like	220	Dynamin-type G.|GTPase domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)	p.M220V(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ACTTGATCTCATGGATGCGGG	0.388																																						ENST00000452533.2																			1	Substitution - Missense(1)	p.M220V(1)	prostate(1)	cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23						c.(658-660)Atg>Gtg		dynamin 1-like							171.0	158.0	163.0					12																	32871615		2203	4300	6503	SO:0001583	missense	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32871615A>G	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.658A>G	12.37:g.32871615A>G	ENSP00000450399:p.Met220Val					DNM1L_ENST00000547312.1_Missense_Mutation_p.M220V|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000549701.1_Missense_Mutation_p.M220V|DNM1L_ENST00000358214.5_Missense_Mutation_p.M233V|DNM1L_ENST00000266481.6_Missense_Mutation_p.M220V|DNM1L_ENST00000381000.4_Missense_Mutation_p.M233V|DNM1L_ENST00000553257.1_Missense_Mutation_p.M233V	p.M220V	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN			7	822	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		220			GTPase domain.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Missense_Mutation	SNP	ENST00000549701.1	37	c.658A>G	CCDS8729.1	.	.	.	.	.	.	.	.	.	.	A	19.52	3.842484	0.71488	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000381000;ENST00000548750	D;D;D;D;D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51;-3.51;-3.51;-3.51;-2.89	6.05	6.05	0.98169	Dynamin, GTPase domain (1);	0.097274	0.85682	D	0.000000	D	0.95249	0.8459	L	0.57130	1.785	0.80722	D	1	P;P;P;P;B	0.48230	0.714;0.714;0.834;0.907;0.356	P;B;P;P;B	0.51615	0.512;0.334;0.675;0.512;0.257	D	0.95495	0.8572	10	0.72032	D	0.01	.	16.6	0.84812	1.0:0.0:0.0:0.0	.	273;273;286;273;220	D3DUW6;D3DUW5;F8W8D1;D3DUW7;O00429	.;.;.;.;DNM1L_HUMAN	V	220;286;220;233;220;233;220;220;233;191	ENSP00000415131:M220V;ENSP00000449089:M233V;ENSP00000450399:M220V;ENSP00000350948:M233V;ENSP00000266481:M220V;ENSP00000448610:M220V;ENSP00000370388:M233V;ENSP00000447788:M191V	ENSP00000266479:M220V	M	+	1	0	DNM1L	32762882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.035000	0.93752	2.323000	0.78572	0.533000	0.62120	ATG		0.388	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		14	312	0	0	0	0.457914	0	14	312				
HTATSF1	27336	broad.mit.edu	37	X	135593930	135593930	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chrX:135593930T>G	ENST00000218364.4	+	9	2200	c.2026T>G	c.(2026-2028)Tca>Gca	p.S676A	HTATSF1_ENST00000535601.1_Missense_Mutation_p.S676A	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	676	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S676A(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GTTTGAAGAGTCAGATGACAA	0.403																																						ENST00000535601.1																			1	Substitution - Missense(1)	p.S676A(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(2026-2028)Tca>Gca		HIV-1 Tat specific factor 1							205.0	177.0	187.0					X																	135593930		2203	4300	6503	SO:0001583	missense	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135593930T>G	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.2026T>G	X.37:g.135593930T>G	ENSP00000218364:p.Ser676Ala					HTATSF1_ENST00000218364.4_Missense_Mutation_p.S676A	p.S676A	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			10	2448	+	Acute lymphoblastic leukemia(192;0.000127)		676			Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	c.2026T>G	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	T	8.533	0.871429	0.17322	.	.	ENSG00000102241	ENST00000535601;ENST00000218364	T;T	0.05447	3.44;3.44	3.85	3.85	0.44370	.	0.184974	0.26594	N	0.023505	T	0.05914	0.0154	N	0.19112	0.55	0.24165	N	0.995648	P	0.49961	0.93	P	0.48627	0.584	T	0.23797	-1.0178	10	0.66056	D	0.02	-2.1924	5.1082	0.14794	0.0:0.1305:0.0:0.8695	.	676	O43719	HTSF1_HUMAN	A	676	ENSP00000442699:S676A;ENSP00000218364:S676A	ENSP00000218364:S676A	S	+	1	0	HTATSF1	135421596	0.001000	0.12720	0.444000	0.26895	0.289000	0.27227	0.575000	0.23729	1.745000	0.51790	0.425000	0.28330	TCA		0.403	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		6	66	0	0	0	0.248553	0	6	66				
LOC645752	645752	broad.mit.edu	37	15	78211648	78211648	+	lincRNA	SNP	A	A	G	rs577974396	byFrequency	TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr15:78211648A>G	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							CGCCAGGGATAGGGGCTCAGC	0.522																																						ENST00000565869.1																			0																																																			0							g.chr15:78211648A>G																													15.37:g.78211648A>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.522	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			3	101	0	0	0	0.307466	0	3	101				
PIGA	5277	broad.mit.edu	37	X	15342939	15342939	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chrX:15342939T>C	ENST00000333590.4	-	5	1120	c.1036A>G	c.(1036-1038)Att>Gtt	p.I346V	PIGA_ENST00000542278.1_Missense_Mutation_p.I112V|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000428964.1_Missense_Mutation_p.I31V	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	346					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)|UDP-glycosyltransferase activity (GO:0008194)	p.I346V(1)		endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					TCACATAAAATAATAAGGTTT	0.383																																						ENST00000333590.4																			1	Substitution - Missense(1)	p.I346V(1)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10						c.(1036-1038)Att>Gtt		phosphatidylinositol glycan anchor biosynthesis, class A							65.0	63.0	64.0					X																	15342939		2202	4298	6500	SO:0001583	missense	5277				C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding	g.chrX:15342939T>C	BC038236	CCDS14165.1, CCDS48086.1, CCDS48086.2	Xp22.1	2014-09-17	2008-07-31		ENSG00000165195	ENSG00000165195	2.4.1.198	"""Glycosyltransferase group 1 domain containing"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8957	protein-coding gene	gene with protein product	"""paroxysmal nocturnal hemoglobinuria"", ""phosphatidylinositol N-acetylglucosaminyltransferase"""	311770	"""phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)"""			8500164	Standard	NM_002641		Approved	GPI3	uc004cwr.3	P37287	OTTHUMG00000021174	ENST00000333590.4:c.1036A>G	X.37:g.15342939T>C	ENSP00000369820:p.Ile346Val					PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000428964.1_Missense_Mutation_p.I31V|PIGA_ENST00000542278.1_Missense_Mutation_p.I112V	p.I346V	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN			5	1120	-	Hepatocellular(33;0.183)		346					B4E0V2|Q16025|Q16250	Missense_Mutation	SNP	ENST00000333590.4	37	c.1036A>G	CCDS14165.1	.	.	.	.	.	.	.	.	.	.	T	8.800	0.932615	0.18131	.	.	ENSG00000165195	ENST00000542278;ENST00000333590;ENST00000428964	T;T;T	0.79554	-1.28;-0.93;-1.28	5.99	4.83	0.62350	Glycosyl transferase, family 1 (1);	0.046640	0.85682	D	0.000000	T	0.71005	0.3289	L	0.38175	1.15	0.40687	D	0.982369	B;B;B	0.17667	0.001;0.023;0.001	B;B;B	0.26517	0.004;0.07;0.002	T	0.61811	-0.6986	10	0.16896	T	0.51	-13.532	10.2438	0.43328	0.0:0.0772:0.0:0.9228	.	112;177;346	B4E0V2;P37287-2;P37287	.;.;PIGA_HUMAN	V	112;346;31	ENSP00000442653:I112V;ENSP00000369820:I346V;ENSP00000416102:I31V	ENSP00000369820:I346V	I	-	1	0	PIGA	15252860	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.627000	0.61276	0.884000	0.36064	0.486000	0.48141	ATT		0.383	PIGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055854.1	NM_002641		5	118	0	0	0	0.184627	0	5	118				
KLHL21	9903	broad.mit.edu	37	1	6659137	6659137	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:6659137G>A	ENST00000377658.4	-	2	1448	c.1397C>T	c.(1396-1398)gCg>gTg	p.A466V	KLHL21_ENST00000463043.1_Missense_Mutation_p.A99V|KLHL21_ENST00000377663.3_Missense_Mutation_p.A466V|KLHL21_ENST00000467612.1_Missense_Mutation_p.A99V	NM_014851.2	NP_055666.2	Q9UJP4	KLH21_HUMAN	kelch-like family member 21	466					chromosome passenger complex localization to spindle midzone (GO:0035853)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|regulation of cytokinesis (GO:0032465)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|polar microtubule (GO:0005827)		p.A466V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		GTTTAGAGTCGCAGTCTTGGG	0.592																																						ENST00000377663.3																			1	Substitution - Missense(1)	p.A466V(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8						c.(1396-1398)gCg>gTg		kelch-like family member 21							33.0	33.0	33.0					1																	6659137		2203	4300	6503	SO:0001583	missense	9903				anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule		g.chr1:6659137G>A	AK090472	CCDS30575.1	1p36	2013-01-30	2013-01-30		ENSG00000162413	ENSG00000162413		"""Kelch-like"", ""BTB/POZ domain containing"""	29041	protein-coding gene	gene with protein product			"""kelch-like 21 (Drosophila)"""				Standard	XM_005263542		Approved	KIAA0469	uc001aoa.3	Q9UJP4	OTTHUMG00000001437	ENST00000377658.4:c.1397C>T	1.37:g.6659137G>A	ENSP00000366886:p.Ala466Val					KLHL21_ENST00000463043.1_Missense_Mutation_p.A99V|KLHL21_ENST00000467612.1_Missense_Mutation_p.A99V|KLHL21_ENST00000377658.4_Missense_Mutation_p.A466V	p.A466V			Q9UJP4	KLH21_HUMAN		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)	2	1580	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	466					B3KQP2|O75057|Q5SY26|Q5SY28|Q8N4I6|Q8NF10	Missense_Mutation	SNP	ENST00000377658.4	37	c.1397C>T	CCDS30575.1	.	.	.	.	.	.	.	.	.	.	G	8.510	0.866325	0.17250	.	.	ENSG00000162413	ENST00000377658;ENST00000377663	T;T	0.64260	-0.09;-0.09	5.14	4.01	0.46588	Galactose oxidase, beta-propeller (1);	0.056572	0.64402	N	0.000001	T	0.34164	0.0888	N	0.03983	-0.305	0.28857	N	0.895722	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17776	-1.0358	10	0.12766	T	0.61	.	10.5895	0.45302	0.9235:0.0:0.0764:0.0	.	466;466	Q9UJP4;Q9UJP4-2	KLH21_HUMAN;.	V	466	ENSP00000366886:A466V;ENSP00000366891:A466V	ENSP00000366886:A466V	A	-	2	0	KLHL21	6581724	1.000000	0.71417	0.995000	0.50966	0.895000	0.52256	5.905000	0.69893	0.893000	0.36288	-0.294000	0.09567	GCG		0.592	KLHL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004188.1	NM_014851		3	21	0	0	0	0.115264	0	3	21				
GPR98	84059	broad.mit.edu	37	5	90021445	90021445	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr5:90021445G>C	ENST00000405460.2	+	48	10229	c.10133G>C	c.(10132-10134)aGt>aCt	p.S3378T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3378					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATCATTGCAAGTCAAAGAGAT	0.299																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(10132-10134)aGt>aCt		G protein-coupled receptor 98							97.0	96.0	96.0					5																	90021445		1805	4064	5869	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90021445G>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.10133G>C	5.37:g.90021445G>C	ENSP00000384582:p.Ser3378Thr						p.S3378T	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	48	10229	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3378					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.10133G>C	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.50|15.50	2.852206|2.852206	0.51270|0.51270	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.29397|.	1.57|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73713|0.73713	0.3622|0.3622	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	P;B|.	0.36048|.	0.534;0.308|.	B;B|.	0.28784|.	0.046;0.094|.	T|T	0.72931|0.72931	-0.4142|-0.4142	10|5	0.66056|.	D|.	0.02|.	.|.	17.6328|17.6328	0.88114|0.88114	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3378;3378|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	T|L	3378|944	ENSP00000384582:S3378T|.	ENSP00000296619:S3378T|.	S|V	+|+	2|1	0|0	GPR98|GPR98	90057201|90057201	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	4.016000|4.016000	0.57159|0.57159	2.478000|2.478000	0.83669|0.83669	0.508000|0.508000	0.49915|0.49915	AGT|GTC		0.299	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		3	284	0	0	0	0.150653	0	3	284				
PLEKHG1	57480	broad.mit.edu	37	6	151161999	151161999	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr6:151161999A>C	ENST00000358517.2	+	16	4336	c.4125A>C	c.(4123-4125)aaA>aaC	p.K1375N	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.K1375N			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1375							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K1375N(1)		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)		TAAGGGAAAAATTTCAGTGTC	0.363																																						ENST00000367328.1																			1	Substitution - Missense(1)	p.K1375N(1)	prostate(1)	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.(4123-4125)aaA>aaC		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							69.0	70.0	70.0					6																	151161999		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151161999A>C	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.4125A>C	6.37:g.151161999A>C	ENSP00000351318:p.Lys1375Asn					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.K1375N	p.K1375N	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	17	4437	+			1375					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.4125A>C	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	A	18.72	3.684202	0.68157	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.72615	-0.67;-0.67	5.7	0.626	0.17670	.	0.000000	0.85682	D	0.000000	T	0.73140	0.3549	M	0.68952	2.095	0.43360	D	0.995439	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.75210	-0.3398	10	0.87932	D	0	.	10.3933	0.44185	0.644:0.0:0.356:0.0	.	1182;1375	Q5EBL9;Q9ULL1	.;PKHG1_HUMAN	N	1375	ENSP00000356297:K1375N;ENSP00000351318:K1375N	ENSP00000351318:K1375N	K	+	3	2	PLEKHG1	151203692	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.418000	0.34782	0.114000	0.18032	0.533000	0.62120	AAA		0.363	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			28	195	0	0	0	0.729181	0	28	195				
USP48	84196	broad.mit.edu	37	1	22056252	22056252	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:22056252C>A	ENST00000308271.9	-	10	1893	c.1245G>T	c.(1243-1245)atG>atT	p.M415I	USP48_ENST00000421625.2_Missense_Mutation_p.M415I|USP48_ENST00000529637.1_Missense_Mutation_p.M414I|USP48_ENST00000400301.1_Missense_Mutation_p.M415I	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	415	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.M415I(2)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TATAAACCAACATATATGCAT	0.398																																						ENST00000308271.9																			2	Substitution - Missense(2)	p.M415I(2)	prostate(1)|endometrium(1)	NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1243-1245)atG>atT		ubiquitin specific peptidase 48							205.0	183.0	190.0					1																	22056252		2203	4300	6503	SO:0001583	missense	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22056252C>A	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.1245G>T	1.37:g.22056252C>A	ENSP00000309262:p.Met415Ile					USP48_ENST00000421625.2_Missense_Mutation_p.M415I|USP48_ENST00000529637.1_Missense_Mutation_p.M414I|USP48_ENST00000400301.1_Missense_Mutation_p.M415I	p.M415I	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	10	1893	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	415					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	c.1245G>T	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743448	0.89663	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000526044;ENST00000534705;ENST00000421625	T;T;T;T	0.04758	3.56;3.56;3.56;3.56	5.59	5.59	0.84812	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.23649	0.0572	M	0.74258	2.255	0.80722	D	1	B;P;B;P;D;D	0.76494	0.078;0.861;0.105;0.481;0.999;0.99	B;P;B;B;D;D	0.83275	0.11;0.765;0.148;0.283;0.996;0.95	T	0.00062	-1.2158	10	0.87932	D	0	.	18.9536	0.92649	0.0:1.0:0.0:0.0	.	414;415;415;415;415;415	B7ZKS7;B7ZKS3;Q86UV5-7;Q86UV5-3;Q86UV5-2;Q86UV5	.;.;.;.;.;UBP48_HUMAN	I	415;415;414;1;37;415	ENSP00000383157:M415I;ENSP00000309262:M415I;ENSP00000431949:M414I;ENSP00000406256:M415I	ENSP00000309262:M415I	M	-	3	0	USP48	21928839	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	7.303000	0.78871	2.782000	0.95742	0.557000	0.71058	ATG		0.398	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		11	304	1	0	2.80697e-09	0.387290	3.30685e-09	11	304				
ABCD2	225	broad.mit.edu	37	12	39994384	39994384	+	Silent	SNP	A	A	G			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr12:39994384A>G	ENST00000308666.3	-	6	1770	c.1635T>C	c.(1633-1635)taT>taC	p.Y545Y		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	545	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TTTGTGGAATATAAAACATAT	0.358																																						ENST00000308666.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						c.(1633-1635)taT>taC		ATP-binding cassette, sub-family D (ALD), member 2							76.0	89.0	84.0					12																	39994384		2203	4299	6502	SO:0001819	synonymous_variant	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:39994384A>G	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.1635T>C	12.37:g.39994384A>G							p.Y545Y	NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN			6	1770	-			545			ABC transporter.		B2RAM3|Q13210|Q2M3H9	Silent	SNP	ENST00000308666.3	37	c.1635T>C	CCDS8734.1																																																																																				0.358	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		3	257	0	0	0	0.115264	0	3	257				
DISP1	84976	broad.mit.edu	37	1	223178140	223178162	+	Frame_Shift_Del	DEL	TTGGACCACAGGGTACCTGTGGT	TTGGACCACAGGGTACCTGTGGT	-	rs199856419		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:223178140_223178162delTTGGACCACAGGGTACCTGTGGT	ENST00000284476.6	+	8	3565_3587	c.3401_3423delTTGGACCACAGGGTACCTGTGGT	c.(3400-3423)cttggaccacagggtacctgtggtfs	p.LGPQGTCG1134fs		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1134					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGCCGGTGCCTTGGACCACAGGGTACCTGTGGTCAGATTCCTT	0.48																																						ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(3400-3423)cfs		dispatched homolog 1 (Drosophila)																																				SO:0001589	frameshift_variant	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223178140_223178162delTTGGACCACAGGGTACCTGTGGT	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.3401_3423delTTGGACCACAGGGTACCTGTGGT	1.37:g.223178140_223178162delTTGGACCACAGGGTACCTGTGGT	ENSP00000284476:p.Leu1134fs						p.LGPQGTCG1134fs	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	3565_3587	+			1134					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Frame_Shift_Del	DEL	ENST00000284476.6	37	c.3401_3423delTTGGACCACAGGGTACCTGTGGT	CCDS1536.1																																																																																				0.480	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		8	186						8	186	---	---	---	---
MSTN	2660	broad.mit.edu	37	2	190925125	190925125	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr2:190925125delC	ENST00000260950.4	-	2	542	c.410delG	c.(409-411)tgtfs	p.C138fs	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	138					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			AAAGAAGCAACATTTGGGTTT	0.328																																						ENST00000260950.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12						c.(409-411)ttfs		myostatin							45.0	46.0	46.0					2																	190925125		2203	4299	6502	SO:0001589	frameshift_variant	2660				muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:190925125delC	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.410delG	2.37:g.190925125delC	ENSP00000260950:p.Cys138fs					C2orf88_ENST00000478197.1_Intron	p.C138fs	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)		2	542	-			138					A1C2J7|A1C2K0|Q6B0H2	Frame_Shift_Del	DEL	ENST00000260950.4	37	c.410delG	CCDS2303.1																																																																																				0.328	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259		10	160						10	160	---	---	---	---
RP11-254I22.1	0	broad.mit.edu	37	5	95414786	95414787	+	lincRNA	INS	-	-	TAAAA	rs34328926|rs80243332|rs60523167|rs5869706	byFrequency	TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr5:95414786_95414787insTAAAA	ENST00000507997.1	+	0	87				MIR583_ENST00000384846.1_RNA|CTD-2337A12.1_ENST00000511775.1_RNA|CTD-2337A12.1_ENST00000502645.2_RNA																							acccatgcacttaaagttaaaa	0.361														2975	0.59405	0.7156	0.4813	5008	,	,		22499	0.495		0.6362	False		,,,				2504	0.5685					ENST00000507997.1																			0																	2353,1165		895,563,301						0.2	0.1		dbSNP_114	36	3841,2837		1367,1107,865	no	intergenic				2262,1670,1166	A1A1,A1R,RR		42.4828,33.1154,39.2507				6194,4002						0							g.chr5:95414786_95414787insTAAAA																													5.37:g.95414786_95414787insTAAAA						CTD-2337A12.1_ENST00000511775.1_RNA|CTD-2337A12.1_ENST00000502645.2_RNA								0	87	+									RNA	INS	ENST00000507997.1	37																																																																																						0.361	RP11-254I22.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000370578.1			3	3						3	3	---	---	---	---
BTN2A3P	54718	broad.mit.edu	37	6	26426984	26426984	+	RNA	DEL	T	T	-	rs79308421|rs5875109		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr6:26426984delT	ENST00000466808.2	+	0	1067							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											GAACCTAGTCTTTTTTTTTTT	0.428																																						ENST00000466808.2																			0																																																			0							g.chr6:26426984delT	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26426984delT														0	1067	+								A6NEF4	RNA	DEL	ENST00000466808.2	37																																																																																						0.428	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		3	4						3	4	---	---	---	---
AC009784.3	0	broad.mit.edu	37	7	135960078	135960079	+	lincRNA	INS	-	-	CTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCTTT			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr7:135960078_135960079insCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCTTT	ENST00000445293.2	+	0	614																											tccctccctcccttccttccct	0.48																																						ENST00000445293.2																			0																																																			0							g.chr7:135960078_135960079insCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCTTT																													7.37:g.135960078_135960079insCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCTTT														0	614	+									RNA	INS	ENST00000445293.2	37																																																																																						0.480	AC009784.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000340909.2			2	4						2	4	---	---	---	---
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs59413596|rs67450550|rs397711020	byFrequency	TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr11:47788664_47788669delGGTGGT	ENST00000263773.5	-	1	184_189	c.172_177delACCACC	c.(172-177)accaccdel	p.TT58del	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	58						nucleus (GO:0005634)		p.T58_T59delTT(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748														1722	0.34385	0.084	0.317	5008	,	,		12964	0.4345		0.4304	False		,,,				2504	0.5317					ENST00000263773.5																			3	Deletion - In frame(3)	p.T58_T59delTT(3)	prostate(1)|breast(1)|central_nervous_system(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(172-177)del		formin binding protein 4				233,2043		62,109,967						-2.3	0.0		dbSNP_130	3	1924,3380		655,614,1383	no	coding	FNBP4	NM_015308.2		717,723,2350	A1A1,A1R,RR		36.2745,10.2373,28.4565				2157,5423				SO:0001651	inframe_deletion	23360							g.chr11:47788664_47788669delGGTGGT	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.172_177delACCACC	11.37:g.47788670_47788675delGGTGGT	ENSP00000263773:p.Thr58_Thr59del					FNBP4_ENST00000534003.1_5'UTR	p.TT58del	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			1	184_189	-			58					Q9H985|Q9NT81|Q9Y2L7	In_Frame_Del	DEL	ENST00000263773.5	37	c.172_177delACCACC	CCDS41644.1																																																																																				0.748	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			3	3						3	3	---	---	---	---
ZDHHC20	253832	broad.mit.edu	37	13	21987884	21987895	+	In_Frame_Del	DEL	GTTCCTTTTCAG	GTTCCTTTTCAG	-			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr13:21987884_21987895delGTTCCTTTTCAG	ENST00000400590.3	-	4	464_475	c.266_277delCTGAAAAGGAAC	c.(265-279)tctgaaaaggaacgt>tgt	p.89_93SEKER>C	ZDHHC20_ENST00000415724.1_In_Frame_Del_p.89_93SEKER>C|ZDHHC20_ENST00000542645.1_In_Frame_Del_p.26_30SEKER>C|ZDHHC20_ENST00000422251.1_In_Frame_Del_p.89_93SEKER>C|ZDHHC20_ENST00000320220.9_In_Frame_Del_p.89_93SEKER>C|ZDHHC20_ENST00000382466.3_In_Frame_Del_p.89_93SEKER>C|ZDHHC20_ENST00000494731.1_5'UTR			Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	89					protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.K91N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		TTTTCATAACGTTCCTTTTCAGAATTGGACAA	0.302																																						ENST00000400590.3																			1	Substitution - Missense(1)	p.K91N(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9						c.(265-279)tgt>t		zinc finger, DHHC-type containing 20																																				SO:0001651	inframe_deletion	253832					integral to membrane	acyltransferase activity|zinc ion binding	g.chr13:21987884_21987895delGTTCCTTTTCAG	AK090979	CCDS45017.1, CCDS73551.1	13q12.11	2008-10-21			ENSG00000180776	ENSG00000180776		"""Zinc fingers, DHHC-type"""	20749	protein-coding gene	gene with protein product							Standard	NM_153251		Approved	FLJ25952	uc001uoa.2	Q5W0Z9	OTTHUMG00000017410	ENST00000400590.3:c.266_277delCTGAAAAGGAAC	13.37:g.21987884_21987895delGTTCCTTTTCAG	ENSP00000383433:p.Ser89_Arg93delinsCys					ZDHHC20_ENST00000415724.1_In_Frame_Del_p.SEKER89del|ZDHHC20_ENST00000382466.3_In_Frame_Del_p.SEKER89del|ZDHHC20_ENST00000320220.9_In_Frame_Del_p.SEKER89del|ZDHHC20_ENST00000422251.1_In_Frame_Del_p.SEKER89del|ZDHHC20_ENST00000542645.1_In_Frame_Del_p.SEKER26del|ZDHHC20_ENST00000494731.1_5'UTR	p.SEKER89del			Q5W0Z9	ZDH20_HUMAN		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)	4	464_475	-		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)	89					A8MTV9|C9JG20|I6L9D4|Q2TB82|Q6NVU8	In_Frame_Del	DEL	ENST00000400590.3	37	c.266_277delCTGAAAAGGAAC																																																																																					0.302	ZDHHC20-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000045994.1	NM_153251		8	83						8	83	---	---	---	---
C16orf74	404550	broad.mit.edu	37	16	85743879	85743881	+	In_Frame_Del	DEL	GCT	GCT	-	rs374238893		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr16:85743879_85743881delGCT	ENST00000284245.4	-	3	244_246	c.61_63delAGC	c.(61-63)agcdel	p.S21del	C16orf74_ENST00000602675.1_5'UTR|C16orf74_ENST00000602583.1_In_Frame_Del_p.S9del|C16orf74_ENST00000602914.1_Intron|C16orf74_ENST00000602766.1_5'UTR|C16orf74_ENST00000602719.1_In_Frame_Del_p.S21del|C16orf74_ENST00000602758.1_Intron	NM_206967.2	NP_996850.1	Q96GX8	CP074_HUMAN	chromosome 16 open reading frame 74	21																	CCTCGTCGTGGCTGCTGCTGCTG	0.635																																						ENST00000602583.1																			0											c.(25-27)del		chromosome 16 open reading frame 74																																				SO:0001651	inframe_deletion	404550							g.chr16:85743879_85743881delGCT	BC009078	CCDS45540.1	16q24.1	2014-05-28			ENSG00000154102	ENSG00000154102			23362	protein-coding gene	gene with protein product							Standard	NM_206967		Approved	MGC17624	uc002fjc.4	Q96GX8	OTTHUMG00000183875	ENST00000284245.4:c.61_63delAGC	16.37:g.85743888_85743890delGCT	ENSP00000284245:p.Ser21del					C16orf74_ENST00000284245.4_In_Frame_Del_p.S21del|C16orf74_ENST00000602766.1_5'UTR|C16orf74_ENST00000602675.1_5'UTR|C16orf74_ENST00000602719.1_In_Frame_Del_p.S21del|C16orf74_ENST00000602914.1_Intron|C16orf74_ENST00000602758.1_Intron	p.S9del			Q96GX8	CP074_HUMAN			1	575_577	-			21						In_Frame_Del	DEL	ENST00000284245.4	37	c.25_27delAGC	CCDS45540.1																																																																																				0.635	C16orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467253.1	NM_206967		3	4						3	4	---	---	---	---
DRICH1	51233	broad.mit.edu	37	22	23959767	23959769	+	In_Frame_Del	DEL	CAT	CAT	-	rs199862187|rs567906771	byFrequency	TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr22:23959767_23959769delCAT	ENST00000317749.5	-	7	809_811	c.512_514delATG	c.(511-516)gatgcc>gcc	p.D171del		NM_016449.3	NP_057533.2	Q6PGQ1	DRIC1_HUMAN		171	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						CTTACCTGGGcatcatcatcatc	0.433														4	0.000798722	0.0	0.0029	5008	,	,		25110	0.001		0.0	False		,,,				2504	0.001					ENST00000317749.5																			0				endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						c.(511-516)gcc>g		chromosome 22 open reading frame 43				38,3770		2,34,1868						-0.9	0.0			110	95,7919		9,77,3921	no	coding	C22orf43	NM_016449.3		11,111,5789	A1A1,A1R,RR		1.1854,0.9979,1.125				133,11689				SO:0001651	inframe_deletion	51233							g.chr22:23959767_23959769delCAT																												ENST00000317749.5:c.512_514delATG	22.37:g.23959776_23959778delCAT	ENSP00000316137:p.Asp171del						p.DA171del	NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN			7	809_811	-			171			Asp-rich.		Q6ICJ8|Q6P4I3|Q9NU31	In_Frame_Del	DEL	ENST00000317749.5	37	c.512_514delATG	CCDS42985.1																																																																																				0.433	C22orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319708.2			8	218						8	218	---	---	---	---
