#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
WHSC1	7468	broad.mit.edu	37	4	1902634	1902634	+	Missense_Mutation	SNP	C	C	G	rs201573732		TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr4:1902634C>G	ENST00000382895.3	+	4	684	c.253C>G	c.(253-255)Cgg>Ggg	p.R85G	WHSC1_ENST00000382891.5_Missense_Mutation_p.R85G|WHSC1_ENST00000398261.1_Missense_Mutation_p.R85G|WHSC1_ENST00000508803.1_Missense_Mutation_p.R85G|WHSC1_ENST00000436793.1_Missense_Mutation_p.R85G|WHSC1_ENST00000503128.1_Missense_Mutation_p.R85G|WHSC1_ENST00000514045.1_Missense_Mutation_p.R85G|WHSC1_ENST00000420906.2_Missense_Mutation_p.R85G|WHSC1_ENST00000382892.2_Missense_Mutation_p.R85G	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	85					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TCTTACTTCCCGGGTGTTTAA	0.542			T	IGH@	MM																																	ENST00000503128.1				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(253-255)Cgg>Ggg		Wolf-Hirschhorn syndrome candidate 1							58.0	60.0	59.0					4																	1902634		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1902634C>G	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.253C>G	4.37:g.1902634C>G	ENSP00000372351:p.Arg85Gly					WHSC1_ENST00000514045.1_Missense_Mutation_p.R85G|WHSC1_ENST00000382891.5_Missense_Mutation_p.R85G|WHSC1_ENST00000508803.1_Missense_Mutation_p.R85G|WHSC1_ENST00000436793.1_Missense_Mutation_p.R85G|WHSC1_ENST00000420906.2_Missense_Mutation_p.R85G|WHSC1_ENST00000398261.1_Missense_Mutation_p.R85G|WHSC1_ENST00000382892.2_Missense_Mutation_p.R85G|WHSC1_ENST00000382895.3_Missense_Mutation_p.R85G	p.R85G			O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	2	460	+		all_epithelial(65;1.34e-05)	85					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.253C>G	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.612065	0.46631	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000515806;ENST00000382891;ENST00000382892;ENST00000436793;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	D;T;T;D;D;T;T;D;T;T;T	0.95622	-3.76;0.89;0.43;-3.76;-3.76;0.68;0.89;-3.76;0.87;0.96;0.87	5.59	3.84	0.44239	.	0.110120	0.41500	D	0.000865	D	0.94863	0.8340	L	0.36672	1.1	0.34481	D	0.703881	P;P;P;P;P	0.49358	0.923;0.87;0.605;0.923;0.923	P;P;B;P;P	0.56398	0.704;0.476;0.378;0.704;0.797	D	0.96268	0.9196	10	0.66056	D	0.02	.	11.9097	0.52733	0.0:0.8777:0.0:0.1223	.	85;85;85;85;85	O96028-3;O96028-7;O96028;O96028-5;O96028-6	.;.;NSD2_HUMAN;.;.	G	85	ENSP00000423972:R85G;ENSP00000421681:R85G;ENSP00000427434:R85G;ENSP00000372347:R85G;ENSP00000372348:R85G;ENSP00000416725:R85G;ENSP00000399251:R85G;ENSP00000372351:R85G;ENSP00000425761:R85G;ENSP00000422878:R85G;ENSP00000381311:R85G	ENSP00000308780:R85G	R	+	1	2	WHSC1	1872432	0.955000	0.32602	0.979000	0.43373	0.989000	0.77384	1.934000	0.40163	0.696000	0.31696	0.655000	0.94253	CGG		0.542	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		5	48	0	0	0	1	0	5	48				
SHROOM4	57477	broad.mit.edu	37	X	50377643	50377643	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chrX:50377643G>T	ENST00000289292.7	-	4	1713	c.1430C>A	c.(1429-1431)aCc>aAc	p.T477N	SHROOM4_ENST00000376020.2_Missense_Mutation_p.T477N|SHROOM4_ENST00000460112.3_Missense_Mutation_p.T361N			Q9ULL8	SHRM4_HUMAN	shroom family member 4	477					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CACTTGTCTGGTCTTTCTTTC	0.527																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1429-1431)aCc>aAc		shroom family member 4							125.0	108.0	114.0					X																	50377643		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50377643G>T	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.1430C>A	X.37:g.50377643G>T	ENSP00000289292:p.Thr477Asn					SHROOM4_ENST00000460112.3_Missense_Mutation_p.T361N|SHROOM4_ENST00000289292.7_Missense_Mutation_p.T477N	p.T477N	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	1455	-	Ovarian(276;0.236)		477					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.1430C>A	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.632366	0.00806	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.14391	2.93;2.93;2.51	5.33	-2.24	0.06909	.	0.986592	0.08260	N	0.973238	T	0.09818	0.0241	L	0.51422	1.61	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.41574	-0.9501	10	0.27082	T	0.32	.	1.126	0.01735	0.4267:0.1197:0.2444:0.2092	.	477	Q9ULL8	SHRM4_HUMAN	N	477;477;361	ENSP00000289292:T477N;ENSP00000365188:T477N;ENSP00000421450:T361N	ENSP00000289292:T477N	T	-	2	0	SHROOM4	50394383	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	0.194000	0.17135	-0.252000	0.09528	-0.208000	0.12717	ACC		0.527	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		54	5	1	0	2.48254e-18	1	3.04111e-18	54	5				
HELZ2	85441	broad.mit.edu	37	20	62200342	62200342	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr20:62200342G>A	ENST00000467148.1	-	5	1168	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	HELZ2_ENST00000479540.1_5'Flank|HELZ2_ENST00000427522.2_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	367					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										ACCTGGCCCCGCAGGGTCAGC	0.692																																						ENST00000467148.1																			0											c.(1099-1101)Cgg>Tgg		helicase with zinc finger 2, transcriptional coactivator							31.0	33.0	32.0					20																	62200342		2169	4213	6382	SO:0001583	missense	85441							g.chr20:62200342G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.1099C>T	20.37:g.62200342G>A	ENSP00000417401:p.Arg367Trp						p.R367W	NM_001037335.2	NP_001032412.2					5	1168	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.1099C>T	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615066	0.28712	.	.	ENSG00000130589	ENST00000467148	T	0.23754	1.89	4.65	2.47	0.30058	.	0.625728	0.16826	N	0.197952	T	0.22936	0.0554	L	0.54323	1.7	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.22730	-1.0208	10	0.87932	D	0	-20.6457	7.0914	0.25285	0.0809:0.0:0.5423:0.3768	.	367	Q9BYK8	PR285_HUMAN	W	367	ENSP00000417401:R367W	ENSP00000417401:R367W	R	-	1	2	RP4-697K14.7	61670786	0.214000	0.23563	0.009000	0.14445	0.022000	0.10575	2.962000	0.49176	0.252000	0.21531	-0.448000	0.05591	CGG		0.692	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		3	29	0	0	0	1	0	3	29				
PPARD	5467	broad.mit.edu	37	6	35392557	35392557	+	Splice_Site	SNP	G	G	T			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr6:35392557G>T	ENST00000311565.4	+	8	1427		c.e8+1		PPARD_ENST00000540939.1_Splice_Site|PPARD_ENST00000444397.1_Missense_Mutation_p.G360V|PPARD_ENST00000448077.2_Splice_Site|PPARD_ENST00000360694.3_Splice_Site|PPARD_ENST00000418635.2_Splice_Site|PPARD_ENST00000337400.2_Missense_Mutation_p.G360V	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta						adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	CTGTGTGGAGGTGAGTGAGAG	0.572																																						ENST00000337400.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(1078-1080)gGt>gTt		peroxisome proliferator-activated receptor delta	Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)						40.0	41.0	41.0					6																	35392557		2201	4299	6500	SO:0001630	splice_region_variant	5467				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr6:35392557G>T	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.1078+1G>T	6.37:g.35392557G>T						PPARD_ENST00000448077.2_Splice_Site|PPARD_ENST00000444397.1_Missense_Mutation_p.G360V|PPARD_ENST00000418635.2_Splice_Site|PPARD_ENST00000360694.3_Splice_Site|PPARD_ENST00000540939.1_Splice_Site|PPARD_ENST00000311565.4_Splice_Site	p.G360V			Q03181	PPARD_HUMAN			8	1428	+			0			Ligand-binding.		A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	ENST00000311565.4	37	c.1079G>T	CCDS4803.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.1|26.1	4.708063|4.708063	0.89018|0.89018	.|.	.|.	ENSG00000112033|ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000311565;ENST00000540939|ENST00000444397;ENST00000337400	.|D;D	.|0.94280	.|-3.39;-3.39	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|.	.|.	.|.	.|.	.|D	.|0.98040	.|0.9354	H|H	0.96365|0.96365	3.81|3.81	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	.|D	.|0.98664	.|1.0685	.|8	.|.	.|.	.|.	.|.	20.0699|20.0699	0.97718|0.97718	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|360	.|F1D8S7	.|.	.|V	-1|360	.|ENSP00000410837:G360V;ENSP00000337063:G360V	.|.	.|G	+|+	.|2	.|0	PPARD|PPARD	35500535|35500535	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	9.824000|9.824000	0.99380|0.99380	2.741000|2.741000	0.93983|0.93983	0.655000|0.655000	0.94253|0.94253	.|GGT		0.572	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238	Intron	14	25	1	0	1.5842e-08	1	1.80525e-08	14	25				
TUBB8P7	197331	broad.mit.edu	37	16	90162224	90162224	+	RNA	SNP	G	G	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr16:90162224G>A	ENST00000564451.1	+	0	1577				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		TTCAGGGGTCGCATGCCCATG	0.527																																						ENST00000567960.1																			0																																																			0							g.chr16:90162224G>A			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162224G>A						TUBB8P7_ENST00000564451.1_RNA								0	960	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	158	0	0	0	1	0	4	158				
PTCHD4	442213	broad.mit.edu	37	6	47976814	47976814	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr6:47976814C>T	ENST00000339488.4	-	2	496	c.463G>A	c.(463-465)Ggg>Agg	p.G155R	PTCHD4_ENST00000543600.1_Missense_Mutation_p.G138R	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	155						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										TCCACTACCCCGCCCAGTTGG	0.468																																						ENST00000543600.1																			0											c.(412-414)Ggg>Agg		patched domain containing 4							38.0	37.0	37.0					6																	47976814		1944	4138	6082	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47976814C>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.463G>A	6.37:g.47976814C>T	ENSP00000341914:p.Gly155Arg					PTCHD4_ENST00000339488.4_Missense_Mutation_p.G155R	p.G138R			Q6ZW05	CF138_HUMAN			2	451	-			155					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.412G>A	CCDS34473.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.796307|4.796307	0.90453|0.90453	.|.	.|.	ENSG00000244694|ENSG00000244694	ENST00000339488;ENST00000543600|ENST00000398738	D;D|.	0.88354|.	-2.37;-2.37|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72534|0.72534	0.3472|0.3472	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.995;1.0|.	P;D|.	0.97110|.	0.906;1.0|.	T|T	0.68599|0.68599	-0.5366|-0.5366	10|5	0.72032|.	D|.	0.01|.	.|.	20.5568|20.5568	0.99304|0.99304	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	155;138|.	Q6ZW05;B0QZ29|.	CF138_HUMAN;.|.	R|Q	155;138|154	ENSP00000341914:G155R;ENSP00000439864:G138R|.	ENSP00000341914:G155R|.	G|R	-|-	1|2	0|0	C6orf138|C6orf138	48084773|48084773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.727000|5.727000	0.68523|0.68523	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.468	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		4	30	0	0	0	1	0	4	30				
NFE2L3	9603	broad.mit.edu	37	7	26224261	26224261	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr7:26224261C>T	ENST00000056233.3	+	4	1202	c.943C>T	c.(943-945)Ctt>Ttt	p.L315F		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	315					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GGATGTGAATCTTCATGAGGC	0.408																																						ENST00000056233.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(943-945)Ctt>Ttt		nuclear factor, erythroid 2-like 3							117.0	108.0	111.0					7																	26224261		2203	4300	6503	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26224261C>T	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.943C>T	7.37:g.26224261C>T	ENSP00000056233:p.Leu315Phe						p.L315F	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	1202	+			315					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.943C>T	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230330	0.58777	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.59224	0.28	5.06	5.06	0.68205	.	0.073033	0.53938	D	0.000054	T	0.75064	0.3799	M	0.80746	2.51	0.43550	D	0.995853	D	0.89917	1.0	D	0.74023	0.982	T	0.78147	-0.2317	10	0.72032	D	0.01	-13.9175	12.2208	0.54433	0.0:0.9214:0.0:0.0786	.	315	Q9Y4A8	NF2L3_HUMAN	F	315;21	ENSP00000056233:L315F	ENSP00000056233:L315F	L	+	1	0	NFE2L3	26190786	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	1.782000	0.38654	2.526000	0.85167	0.467000	0.42956	CTT		0.408	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			4	102	0	0	0	1	0	4	102				
HHIPL2	79802	broad.mit.edu	37	1	222713413	222713413	+	Silent	SNP	G	G	T	rs372301341		TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr1:222713413G>T	ENST00000343410.6	-	4	1447	c.1389C>A	c.(1387-1389)ggC>ggA	p.G463G		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	463					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TTGCTCTCCAGCCATAGTTTC	0.488																																						ENST00000343410.6																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1387-1389)ggC>ggA		HHIP-like 2							93.0	96.0	95.0					1																	222713413		2203	4300	6503	SO:0001819	synonymous_variant	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222713413G>T	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1389C>A	1.37:g.222713413G>T							p.G463G	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	4	1447	-			463					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	ENST00000343410.6	37	c.1389C>A	CCDS1530.2																																																																																				0.488	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		5	104	1	0	1	1	1	5	104				
FAM134C	162427	broad.mit.edu	37	17	40734779	40734779	+	Missense_Mutation	SNP	C	C	G			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr17:40734779C>G	ENST00000309428.5	-	8	915	c.856G>C	c.(856-858)Gag>Cag	p.E286Q	FAM134C_ENST00000543197.1_Missense_Mutation_p.E91Q|FAM134C_ENST00000585894.1_Missense_Mutation_p.E189Q	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	286						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		TCTGAGTGCTCAGAGTCTGTG	0.493																																						ENST00000309428.5																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11						c.(856-858)Gag>Cag		family with sequence similarity 134, member C							184.0	173.0	177.0					17																	40734779		2203	4300	6503	SO:0001583	missense	162427					integral to membrane		g.chr17:40734779C>G	BC049370	CCDS11432.1	17q21.2	2007-05-01							27258	protein-coding gene	gene with protein product						12477932	Standard	NM_178126		Approved	DKFZp686B1036, FLJ33806	uc002ial.2	Q86VR2		ENST00000309428.5:c.856G>C	17.37:g.40734779C>G	ENSP00000309432:p.Glu286Gln					FAM134C_ENST00000585894.1_Missense_Mutation_p.E189Q|FAM134C_ENST00000543197.1_Missense_Mutation_p.E91Q	p.E286Q	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.134)	8	915	-		Breast(137;0.00116)	286					B3KR75	Missense_Mutation	SNP	ENST00000309428.5	37	c.856G>C	CCDS11432.1	.	.	.	.	.	.	.	.	.	.	C	35	5.507396	0.96386	.	.	ENSG00000141699	ENST00000309428;ENST00000543197	T;T	0.59083	0.29;0.33	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.78349	0.4269	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77571	-0.2538	10	0.66056	D	0.02	-10.062	20.8794	0.99867	0.0:1.0:0.0:0.0	.	286	Q86VR2	F134C_HUMAN	Q	286;91	ENSP00000309432:E286Q;ENSP00000446235:E91Q	ENSP00000309432:E286Q	E	-	1	0	FAM134C	37988305	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.461000	0.80834	2.941000	0.99782	0.655000	0.94253	GAG		0.493	FAM134C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450536.1	NM_178126		5	134	0	0	0	1	0	5	134				
LSAMP	4045	broad.mit.edu	37	3	115805294	115805294	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr3:115805294G>A	ENST00000490035.2	-	2	764	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	LSAMP_ENST00000539563.1_Missense_Mutation_p.R86C	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	89	Ig-like C2-type 1.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		AGAGAATGGCGTTTCTCCAGC	0.507																																						ENST00000490035.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(265-267)Cgc>Tgc		limbic system-associated membrane protein							124.0	111.0	116.0					3																	115805294		2203	4300	6503	SO:0001583	missense	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115805294G>A	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.265C>T	3.37:g.115805294G>A	ENSP00000419000:p.Arg89Cys					LSAMP_ENST00000539563.1_Missense_Mutation_p.R86C	p.R89C	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	2	764	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	89			Ig-like C2-type 1.		Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	c.265C>T	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250486	0.80024	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563;ENST00000474851	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.65	5.65	0.86999	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.053914	0.64402	D	0.000001	T	0.70081	0.3183	L	0.34521	1.04	0.58432	D	0.999998	D;P	0.69078	0.997;0.888	P;P	0.59595	0.761;0.86	T	0.72040	-0.4410	10	0.62326	D	0.03	-10.0134	13.8147	0.63283	0.0:0.0:0.8376:0.1623	.	89;89	B2RCU8;Q13449	.;LSAMP_HUMAN	C	73;89;86;123	ENSP00000328455:R73C;ENSP00000419000:R89C;ENSP00000443429:R86C;ENSP00000418506:R123C	ENSP00000328455:R73C	R	-	1	0	LSAMP	117287984	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.168000	0.50801	2.668000	0.90789	0.555000	0.69702	CGC		0.507	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		24	20	0	0	0	1	0	24	20				
IFT46	56912	broad.mit.edu	37	11	118427747	118427747	+	Missense_Mutation	SNP	G	G	C	rs374705299|rs144091431	byFrequency	TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr11:118427747G>C	ENST00000264021.3	-	4	477	c.59C>G	c.(58-60)aCc>aGc	p.T20S	IFT46_ENST00000530872.1_Missense_Mutation_p.T71S|IFT46_ENST00000264020.2_Missense_Mutation_p.T71S	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	20					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						CAACTGTGAGGTCTTCTTCTT	0.408																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(211-213)aCc>aGc		intraflagellar transport 46 homolog (Chlamydomonas)							167.0	141.0	149.0					11																	118427747		2200	4295	6495	SO:0001583	missense	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118427747G>C	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"""Intraflagellar transport homologs"""	26146	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 32"""		"""chromosome 11 open reading frame 60"", ""intraflagellar transport 46 homolog (Chlamydomonas)"""	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.59C>G	11.37:g.118427747G>C	ENSP00000264021:p.Thr20Ser					IFT46_ENST00000264021.3_Missense_Mutation_p.T20S|IFT46_ENST00000530872.1_Missense_Mutation_p.T71S	p.T71S	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN			5	589	-			20					A8K0F6|Q9H6V5	Missense_Mutation	SNP	ENST00000264021.3	37	c.212C>G	CCDS53718.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199838	0.38905	.	.	ENSG00000118096	ENST00000264021;ENST00000264020;ENST00000530872;ENST00000531939;ENST00000534156;ENST00000534114;ENST00000528378;ENST00000533918	T;T;T;T;T;T;T;T	0.44881	1.02;0.92;2.34;1.02;1.02;2.34;1.01;0.91	5.42	3.55	0.40652	.	0.433274	0.25472	N	0.030429	T	0.18551	0.0445	N	0.12182	0.205	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.13407	0.004;0.001;0.009	T	0.20974	-1.0259	10	0.10111	T	0.7	-0.7784	3.7701	0.08637	0.0795:0.1434:0.4814:0.2957	.	71;20;71	E9PR06;Q9NQC8;Q9NQC8-2	.;IFT46_HUMAN;.	S	20;71;71;20;20;71;20;20	ENSP00000264021:T20S;ENSP00000264020:T71S;ENSP00000432384:T71S;ENSP00000435826:T20S;ENSP00000434175:T20S;ENSP00000432982:T71S;ENSP00000435278:T20S;ENSP00000435750:T20S	ENSP00000264020:T71S	T	-	2	0	IFT46	117932957	0.438000	0.25602	0.926000	0.36857	0.723000	0.41478	0.915000	0.28638	0.832000	0.34804	0.650000	0.86243	ACC		0.408	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		16	15	0	0	0	1	0	16	15				
NCOR2	9612	broad.mit.edu	37	12	124824556	124824556	+	Silent	SNP	G	G	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr12:124824556G>A	ENST00000405201.1	-	37	5683	c.5683C>T	c.(5683-5685)Ctg>Ttg	p.L1895L	NCOR2_ENST00000404621.1_Silent_p.L1885L|NCOR2_ENST00000397355.1_Silent_p.L1886L|NCOR2_ENST00000429285.2_Silent_p.L1885L|NCOR2_ENST00000356219.3_Silent_p.L1902L|NCOR2_ENST00000404121.2_Silent_p.L1456L			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1906					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCCCACCTCAGGACCGTGGGC	0.622																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5704-5706)Ctg>Ttg		nuclear receptor corepressor 2							52.0	59.0	57.0					12																	124824556		2046	4168	6214	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124824556G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5683C>T	12.37:g.124824556G>A						NCOR2_ENST00000404621.1_Silent_p.L1885L|NCOR2_ENST00000404121.2_Silent_p.L1456L|NCOR2_ENST00000429285.2_Silent_p.L1885L|NCOR2_ENST00000397355.1_Silent_p.L1886L|NCOR2_ENST00000405201.1_Silent_p.L1895L	p.L1902L	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	38	5859	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1906	T -> K (in Ref. 2; AAD20946, 3; AAD22973, 4; AAX77219 and 8; AAC50236).				O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.5704C>T	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	9.215	1.031815	0.19590	.	.	ENSG00000196498	ENST00000440187;ENST00000453428	.	.	.	4.18	3.28	0.37604	.	.	.	.	.	T	0.58623	0.2135	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53301	-0.8458	4	.	.	.	.	9.1896	0.37191	0.1806:0.0:0.8194:0.0	.	.	.	.	L	129;224	.	.	P	-	2	0	NCOR2	123390509	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.678000	0.46900	0.723000	0.32274	0.491000	0.48974	CCT		0.622	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		9	21	0	0	0	1	0	9	21				
XKR7	343702	broad.mit.edu	37	20	30584394	30584394	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr20:30584394C>T	ENST00000562532.2	+	3	1048	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	292						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGACGACAAGCGGCCGCTGTC	0.682																																						ENST00000217299.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(874-876)Cgg>Tgg		XK, Kell blood group complex subunit-related family, member 7							33.0	34.0	33.0					20																	30584394		2203	4300	6503	SO:0001583	missense	343702					integral to membrane		g.chr20:30584394C>T	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.874C>T	20.37:g.30584394C>T	ENSP00000477059:p.Arg292Trp						p.R292W	NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1048	+			292					Q9NUG5	Missense_Mutation	SNP	ENST00000562532.2	37	c.874C>T	CCDS33459.1	.	.	.	.	.	.	.	.	.	.	c	18.56	3.651249	0.67472	.	.	ENSG00000101321	ENST00000217299	T	0.64618	-0.11	5.04	4.07	0.47477	.	0.309753	0.30177	N	0.010234	T	0.66086	0.2754	L	0.43923	1.385	0.29981	N	0.817708	D	0.71674	0.998	P	0.56916	0.809	T	0.66540	-0.5898	10	0.87932	D	0	.	11.4299	0.50034	0.461:0.539:0.0:0.0	.	292	Q5GH72	XKR7_HUMAN	W	292	ENSP00000217299:R292W	ENSP00000217299:R292W	R	+	1	2	XKR7	30048055	0.970000	0.33590	1.000000	0.80357	0.921000	0.55340	0.534000	0.23098	1.079000	0.41038	0.556000	0.70494	CGG		0.682	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		4	39	0	0	0	1	0	4	39				
ZNF878	729747	broad.mit.edu	37	19	12155757	12155757	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr19:12155757C>A	ENST00000547628.1	-	4	596	c.459G>T	c.(457-459)agG>agT	p.R153S	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.R200S|CTD-2006C1.10_ENST00000547473.1_Intron	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAACCTGAATGCTT	0.423																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(598-600)agG>agT		zinc finger protein 878							139.0	150.0	146.0					19																	12155757		2165	4283	6448	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155757C>A		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.459G>T	19.37:g.12155757C>A	ENSP00000447931:p.Arg153Ser					CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.R153S	p.R200S			C9JN71	ZN878_HUMAN			5	599	-			153						Missense_Mutation	SNP	ENST00000547628.1	37	c.600G>T	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	c	0.119	-1.128634	0.01756	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.13901	2.55	1.25	-2.51	0.06365	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04588	0.0125	N	0.11427	0.14	0.09310	N	1	B	0.15141	0.012	B	0.18871	0.023	T	0.39840	-0.9594	9	0.02654	T	1	.	3.7988	0.08750	0.3827:0.4258:0.0:0.1915	.	153	C9JN71	ZN878_HUMAN	S	153;200	ENSP00000447931:R153S	ENSP00000447931:R153S	R	-	3	2	AC022415.4;ZNF878	12016757	0.000000	0.05858	0.001000	0.08648	0.669000	0.39330	-2.636000	0.00867	-1.408000	0.02040	0.299000	0.19835	AGG		0.423	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		5	144	1	0	0.00116845	1	0.00121817	5	144				
OPN1LW	5956	broad.mit.edu	37	X	153420113	153420113	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chrX:153420113G>A	ENST00000369951.4	+	4	703	c.643G>A	c.(643-645)Ggg>Agg	p.G215R	OPN1LW_ENST00000463296.1_Intron	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	215					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCGTACCCCGGGGTGCAGTC	0.607																																						ENST00000369951.4																			0				endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15						c.(643-645)Ggg>Agg		opsin 1 (cone pigments), long-wave-sensitive							144.0	104.0	118.0					X																	153420113		2183	4240	6423	SO:0001583	missense	5956				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chrX:153420113G>A	Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"""GPCR / Class A : Opsin receptors"""	9936	protein-coding gene	gene with protein product	"""cone dystrophy 5 (X-linked)"""	300822	"""color blindness, protan"", ""red cone photoreceptor pigment"""	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.643G>A	X.37:g.153420113G>A	ENSP00000358967:p.Gly215Arg					OPN1LW_ENST00000463296.1_Intron	p.G215R	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN			4	703	+	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		215						Missense_Mutation	SNP	ENST00000369951.4	37	c.643G>A	CCDS14742.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793778	0.70452	.	.	ENSG00000102076	ENST00000369951;ENST00000442922	T;T	0.37058	1.22;1.22	4.27	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.52709	0.1751	L	0.49571	1.57	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.50964	-0.8765	10	0.38643	T	0.18	.	15.1182	0.72419	0.0:0.0:1.0:0.0	.	215	P04000	OPSR_HUMAN	R	215;78	ENSP00000358967:G215R;ENSP00000402493:G78R	ENSP00000358967:G215R	G	+	1	0	OPN1LW	153073307	1.000000	0.71417	0.450000	0.26969	0.509000	0.34042	4.292000	0.59031	1.888000	0.54679	0.372000	0.22366	GGG		0.607	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061		30	34	0	0	0	1	0	30	34				
XCL2	6846	broad.mit.edu	37	1	168510202	168510202	+	Silent	SNP	G	G	A	rs149372418	byFrequency	TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr1:168510202G>A	ENST00000367819.2	-	3	365	c.333C>T	c.(331-333)acC>acT	p.T111T		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	111					blood circulation (GO:0008015)|cell chemotaxis (GO:0060326)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)	p.T111T(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					AGCCAGTCAGGGTCACAGCTG	0.498													G|||	2	0.000399361	0.0	0.0	5008	,	,		15935	0.001		0.0	False		,,,				2504	0.001					ENST00000367819.2																			1	Substitution - coding silent(1)	p.T111T(1)	lung(1)	large_intestine(1)|lung(6)|ovary(1)	8						c.(331-333)acC>acT		chemokine (C motif) ligand 2		G		1,4405		0,1,2202	299.0	234.0	256.0		333	1.4	0.2	1	dbSNP_134	256	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	XCL2	NM_003175.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		111/115	168510202	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	6846				blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	g.chr1:168510202G>A	BC070309	CCDS1273.1	1q24.2	2013-02-28	2002-08-22	2002-08-23	ENSG00000143185	ENSG00000143185		"""Endogenous ligands"""	10646	protein-coding gene	gene with protein product		604828	"""small inducible cytokine subfamily C, member 2"""	SCYC2		7875320	Standard	NM_003175		Approved	SCM-1b	uc001gfn.4	Q9UBD3	OTTHUMG00000034549	ENST00000367819.2:c.333C>T	1.37:g.168510202G>A							p.T111T	NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN			3	365	-	all_hematologic(923;0.215)		111						Silent	SNP	ENST00000367819.2	37	c.333C>T	CCDS1273.1																																																																																				0.498	XCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083613.1	NM_003175		3	38	0	0	0	1	0	3	38				
ACTL6A	86	broad.mit.edu	37	3	179287979	179287979	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr3:179287979G>A	ENST00000429709.2	+	3	440	c.227G>A	c.(226-228)cGt>cAt	p.R76H	ACTL6A_ENST00000450518.2_Missense_Mutation_p.R34H|ACTL6A_ENST00000392662.1_Missense_Mutation_p.R34H	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	76					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			AATGCTCTGCGTGTTCCGAGG	0.418																																						ENST00000429709.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21						c.(226-228)cGt>cAt		actin-like 6A							166.0	158.0	161.0					3																	179287979		2203	4300	6503	SO:0001583	missense	86				chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	g.chr3:179287979G>A	AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"""INO80 complex subunits"""	24124	protein-coding gene	gene with protein product	"""BAF complex 53 kDa subunit"", ""BRG1-associated factor"", ""actin-related protein 4"", ""INO80 complex subunit K"""	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.227G>A	3.37:g.179287979G>A	ENSP00000397552:p.Arg76His					ACTL6A_ENST00000450518.2_Missense_Mutation_p.R34H|ACTL6A_ENST00000392662.1_Missense_Mutation_p.R34H	p.R76H	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)		3	440	+	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		76					B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Missense_Mutation	SNP	ENST00000429709.2	37	c.227G>A	CCDS3231.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350694	0.41599	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662;ENST00000490364	D;D;D	0.94376	-3.41;-3.41;-3.41	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.82323	0.5012	N	0.00996	-1.065	0.58432	D	0.999998	B	0.09022	0.002	B	0.06405	0.002	T	0.76748	-0.2845	10	0.22706	T	0.39	.	19.8407	0.96681	0.0:0.0:1.0:0.0	.	76	O96019	ACL6A_HUMAN	H	76;34;34;34	ENSP00000397552:R76H;ENSP00000394014:R34H;ENSP00000376430:R34H	ENSP00000376430:R34H	R	+	2	0	ACTL6A	180770673	1.000000	0.71417	0.994000	0.49952	0.928000	0.56348	6.762000	0.74950	2.677000	0.91161	0.650000	0.86243	CGT		0.418	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1	NM_004301		6	69	0	0	0	1	0	6	69				
KCNH1	3756	broad.mit.edu	37	1	211093037	211093037	+	Silent	SNP	G	G	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr1:211093037G>A	ENST00000271751.4	-	7	1434	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	KCNH1_ENST00000367007.4_Silent_p.I442I			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	469					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGGATGGGGCGATGTTCCCAA	0.507																																						ENST00000367007.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1324-1326)atC>atT		potassium voltage-gated channel, subfamily H (eag-related), member 1							166.0	157.0	160.0					1																	211093037		2203	4300	6503	SO:0001819	synonymous_variant	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211093037G>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1407C>T	1.37:g.211093037G>A						KCNH1_ENST00000271751.4_Silent_p.I469I	p.I442I	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	7	1495	-			469					B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	37	c.1326C>T	CCDS1496.1																																																																																				0.507	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		4	98	0	0	0	1	0	4	98				
GOLGA6L7P	728310	broad.mit.edu	37	15	29092257	29092257	+	RNA	SNP	C	C	T	rs75388271		TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr15:29092257C>T	ENST00000569815.1	-	0	258					NR_047567.1				golgin A6 family-like 7, pseudogene																		TCAGGGTTAGCGCCATGATTT	0.547																																						ENST00000569815.1																			0																																																			0							g.chr15:29092257C>T	AK302238		15q13.1	2012-10-05	2011-04-15	2010-04-20	ENSG00000261649	ENSG00000261649			37442	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 6-like 7 (pseudogene)"""	GOLGA6L7			Standard	NR_047567		Approved		uc010uar.2		OTTHUMG00000176345		15.37:g.29092257C>T								NR_047567.1						0	258	-									RNA	SNP	ENST00000569815.1	37																																																																																						0.547	GOLGA6L7P-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000431796.1	XR_078490		4	30	0	0	0	1	0	4	30				
AGO3	192669	broad.mit.edu	37	1	36474313	36474313	+	Silent	SNP	T	T	C			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr1:36474313T>C	ENST00000373191.4	+	7	1165	c.816T>C	c.(814-816)caT>caC	p.H272H	RP4-665N4.8_ENST00000479395.2_RNA|RP4-665N4.8_ENST00000466576.2_RNA|AGO3_ENST00000246314.6_Silent_p.H38H	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	272	PAZ. {ECO:0000255|HAMAP-Rule:MF_03032}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										AAGTGACTCATTGTGGAACAA	0.398																																						ENST00000373191.4																			0											c.(814-816)caT>caC		argonaute RISC catalytic component 3							72.0	75.0	74.0					1																	36474313		2203	4300	6503	SO:0001819	synonymous_variant	192669							g.chr1:36474313T>C	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.816T>C	1.37:g.36474313T>C						AGO3_ENST00000246314.6_Silent_p.H38H|RP4-665N4.8_ENST00000466576.2_RNA	p.H272H	NM_024852.3	NP_079128.2					7	1165	+								B1ALI0|Q5TA55|Q9H1U6	Silent	SNP	ENST00000373191.4	37	c.816T>C	CCDS399.1																																																																																				0.398	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		4	65	0	0	0	1	0	4	65				
APTX	54840	broad.mit.edu	37	9	32973551	32973551	+	Missense_Mutation	SNP	A	A	C			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr9:32973551A>C	ENST00000379819.1	-	8	1015	c.1016T>G	c.(1015-1017)cTg>cGg	p.L339R	APTX_ENST00000309615.3_3'UTR|APTX_ENST00000436040.2_3'UTR|APTX_ENST00000463596.1_Missense_Mutation_p.L325R|APTX_ENST00000397172.3_Missense_Mutation_p.L267R|APTX_ENST00000379813.3_Missense_Mutation_p.L325R|APTX_ENST00000379825.2_3'UTR|APTX_ENST00000379817.2_Missense_Mutation_p.L325R|APTX_ENST00000468275.1_Missense_Mutation_p.L325R|APTX_ENST00000476858.1_Missense_Mutation_p.L285R			Q7Z2E3	APTX_HUMAN	aprataxin	339					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|dephosphorylation (GO:0016311)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA ligation (GO:0006266)|double-strand break repair (GO:0006302)|polynucleotide 3' dephosphorylation (GO:0098506)|regulation of protein stability (GO:0031647)|response to hydrogen peroxide (GO:0042542)|single strand break repair (GO:0000012)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA 5'-adenosine monophosphate hydrolase activity (GO:0033699)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|phosphoglycolate phosphatase activity (GO:0008967)|phosphoprotein binding (GO:0051219)|polynucleotide 3'-phosphatase activity (GO:0046403)|protein N-terminus binding (GO:0047485)			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		GGAAGGCAGCAGCTGCTGGCA	0.552								Editing and processing nucleases																														ENST00000379817.2																			0				endometrium(1)|lung(1)|ovary(2)|prostate(2)	6						c.(973-975)cTg>cGg	Editing and processing nucleases	aprataxin							85.0	78.0	80.0					9																	32973551		2203	4300	6503	SO:0001583	missense	54840				cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding	g.chr9:32973551A>C	AK000164	CCDS47956.1, CCDS56568.1, CCDS75827.1	9p13.3	2014-01-28	2003-04-03		ENSG00000137074	ENSG00000137074			15984	protein-coding gene	gene with protein product		606350	"""ataxia 1, early onset with hypoalbuminemia"""	AXA1		11586299, 11586300	Standard	NM_175069		Approved	FLJ20157, AOA, AOA1, EAOH, EOAHA	uc003zry.3	Q7Z2E3	OTTHUMG00000019759	ENST00000379819.1:c.1016T>G	9.37:g.32973551A>C	ENSP00000369147:p.Leu339Arg					APTX_ENST00000476858.1_Missense_Mutation_p.L285R|APTX_ENST00000379813.3_Missense_Mutation_p.L325R|APTX_ENST00000463596.1_Missense_Mutation_p.L325R|APTX_ENST00000309615.3_3'UTR|APTX_ENST00000397172.3_Missense_Mutation_p.L267R|APTX_ENST00000379825.2_3'UTR|APTX_ENST00000468275.1_Missense_Mutation_p.L325R|APTX_ENST00000436040.2_3'UTR|APTX_ENST00000379819.1_Missense_Mutation_p.L339R	p.L325R			Q7Z2E3	APTX_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)	7	1170	-			339					A8MTN4|D3DRK9|D3DRL0|Q0P662|Q5T781|Q5T782|Q5T784|Q6JV81|Q6JV82|Q6JV85|Q7Z2F3|Q7Z336|Q7Z5R5|Q7Z6V7|Q7Z6V8|Q9NXM5	Missense_Mutation	SNP	ENST00000379819.1	37	c.974T>G		.	.	.	.	.	.	.	.	.	.	A	8.662	0.900821	0.17686	.	.	ENSG00000137074	ENST00000397172;ENST00000379817;ENST00000379819;ENST00000468275;ENST00000463596;ENST00000476858;ENST00000344355;ENST00000379813	D;D;D;D;D;D;D	0.91124	-1.77;-1.78;-1.78;-1.78;-1.78;-2.79;-1.78	5.43	1.34	0.21922	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.557891	0.17461	N	0.173432	T	0.72606	0.3481	N	0.01874	-0.695	0.80722	D	1	B;B;B	0.17268	0.021;0.0;0.001	B;B;B	0.15052	0.012;0.006;0.003	T	0.58707	-0.7589	10	0.16420	T	0.52	-2.47	9.2479	0.37539	0.3503:0.0:0.0:0.6497	.	267;271;339	Q7Z2E3-3;Q7Z2E3-5;Q7Z2E3	.;.;APTX_HUMAN	R	267;325;339;325;325;285;320;325	ENSP00000380357:L267R;ENSP00000369145:L325R;ENSP00000369147:L339R;ENSP00000420263:L325R;ENSP00000419846:L325R;ENSP00000419042:L285R;ENSP00000369141:L325R	ENSP00000339407:L320R	L	-	2	0	APTX	32963551	1.000000	0.71417	0.998000	0.56505	0.348000	0.29142	1.502000	0.35704	0.314000	0.23086	0.533000	0.62120	CTG		0.552	APTX-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000052028.2	NM_017692		8	37	0	0	0	1	0	8	37				
CRYBB2	1415	broad.mit.edu	37	22	25627656	25627656	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr22:25627656G>T	ENST00000398215.2	+	6	706	c.535G>T	c.(535-537)Gcc>Tcc	p.A179S		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	179	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		identical protein binding (GO:0042802)|structural constituent of eye lens (GO:0005212)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CGACTTTGGGGCCCCTCACCC	0.652																																						ENST00000398215.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						c.(535-537)Gcc>Tcc		crystallin, beta B2							110.0	94.0	100.0					22																	25627656		2203	4300	6503	SO:0001583	missense	1415				response to stimulus|visual perception		structural constituent of eye lens	g.chr22:25627656G>T		CCDS13831.1	22q11.23	2008-06-10			ENSG00000244752	ENSG00000244752			2398	protein-coding gene	gene with protein product		123620		CCA2, CRYB2A, CRYB2		9158139, 8224918	Standard	XM_006724141		Approved		uc003abp.1	P43320	OTTHUMG00000150905	ENST00000398215.2:c.535G>T	22.37:g.25627656G>T	ENSP00000381273:p.Ala179Ser						p.A179S	NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN			6	706	+			179			Beta/gamma crystallin 'Greek key' 4.		Q9UCM8	Missense_Mutation	SNP	ENST00000398215.2	37	c.535G>T	CCDS13831.1	.	.	.	.	.	.	.	.	.	.	g	14.55	2.568022	0.45798	.	.	ENSG00000244752	ENST00000398215	T	0.78481	-1.18	3.98	3.98	0.46160	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	.	.	.	.	D	0.85643	0.5744	M	0.64404	1.975	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	D	0.86585	0.1856	9	0.51188	T	0.08	.	15.0574	0.71925	0.0:0.0:1.0:0.0	.	179	P43320	CRBB2_HUMAN	S	179	ENSP00000381273:A179S	ENSP00000381273:A179S	A	+	1	0	CRYBB2	23957656	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	5.284000	0.65627	1.763000	0.52060	0.462000	0.41574	GCC		0.652	CRYBB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320350.1	NM_000496		36	41	1	0	1.06647e-15	1	1.27456e-15	36	41				
SCN1A	6323	broad.mit.edu	37	2	166848827	166848827	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr2:166848827G>A	ENST00000303395.4	-	26	4957	c.4958C>T	c.(4957-4959)gCa>gTa	p.A1653V	SCN1A_ENST00000375405.3_Missense_Mutation_p.A1642V|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A1625V|SCN1A_ENST00000423058.2_Missense_Mutation_p.A1653V			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1653					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GATCCCCTTTGCTCCTTTGAT	0.498																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(4957-4959)gCa>gTa		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						112.0	110.0	111.0					2																	166848827		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848827G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4958C>T	2.37:g.166848827G>A	ENSP00000303540:p.Ala1653Val					SCN1A_ENST00000303395.4_Missense_Mutation_p.A1653V|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A1625V|SCN1A_ENST00000375405.3_Missense_Mutation_p.A1642V	p.A1653V	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			26	4975	-			1653					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.4958C>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	31	5.069520	0.93950	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98345	-4.88;-4.88;-4.88;-4.88	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000015	D	0.98804	0.9597	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99898	1.1152	10	0.87932	D	0	.	18.8986	0.92433	0.0:0.0:1.0:0.0	.	1642	P35498-2	.	V	1653;1653;1642;1625	ENSP00000407030:A1653V;ENSP00000303540:A1653V;ENSP00000364554:A1642V;ENSP00000386312:A1625V	ENSP00000303540:A1653V	A	-	2	0	SCN1A	166557073	1.000000	0.71417	0.484000	0.27391	0.997000	0.91878	9.711000	0.98735	2.444000	0.82710	0.650000	0.86243	GCA		0.498	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		26	47	0	0	0	1	0	26	47				
MACF1	23499	broad.mit.edu	37	1	39753017	39753017	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr1:39753017G>A	ENST00000372915.3	+	14	1670	c.1583G>A	c.(1582-1584)cGg>cAg	p.R528Q	MACF1_ENST00000539005.1_Missense_Mutation_p.R528Q|MACF1_ENST00000317713.7_Missense_Mutation_p.R528Q|MACF1_ENST00000545844.1_Missense_Mutation_p.R528Q|MACF1_ENST00000564288.1_Missense_Mutation_p.R523Q|MACF1_ENST00000361689.2_Missense_Mutation_p.R528Q|MACF1_ENST00000567887.1_Missense_Mutation_p.R560Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	528					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AACCTGTACCGGAAGGGTCAT	0.438																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(1567-1569)cGg>cAg		microtubule-actin crosslinking factor 1							190.0	167.0	175.0					1																	39753017		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39753017G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.1583G>A	1.37:g.39753017G>A	ENSP00000362006:p.Arg528Gln					MACF1_ENST00000545844.1_Missense_Mutation_p.R528Q|MACF1_ENST00000361689.2_Missense_Mutation_p.R528Q|MACF1_ENST00000539005.1_Missense_Mutation_p.R528Q|MACF1_ENST00000567887.1_Missense_Mutation_p.R560Q|MACF1_ENST00000372915.3_Missense_Mutation_p.R528Q|MACF1_ENST00000317713.7_Missense_Mutation_p.R528Q	p.R523Q			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		15	2345	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	528					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.1568G>A		.	.	.	.	.	.	.	.	.	.	G	25.4	4.637340	0.87760	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	D;D;D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3;-3.3;-3.3	5.52	5.52	0.82312	.	.	.	.	.	D	0.89887	0.6845	L	0.39898	1.24	0.80722	D	1	B;B	0.29232	0.238;0.002	B;B	0.16722	0.016;0.003	D	0.86378	0.1727	9	0.29301	T	0.29	.	19.8311	0.96636	0.0:0.0:1.0:0.0	.	528;493	F8W8Q1;Q9UPN3-3	.;.	Q	528;528;528;528;528;486;677;688	ENSP00000439537:R528Q;ENSP00000362006:R528Q;ENSP00000354573:R528Q;ENSP00000313438:R528Q;ENSP00000444364:R528Q;ENSP00000435070:R486Q;ENSP00000437059:R677Q	ENSP00000313438:R528Q	R	+	2	0	MACF1	39525604	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.242000	0.95408	2.773000	0.95371	0.655000	0.94253	CGG		0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		4	137	0	0	0	1	0	4	137				
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs202140854	byFrequency	TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CTTACATCCAGCTTGAGTAGT	0.259																																						ENST00000546471.1																			0																																																			0							g.chr16:21817457G>A			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817457G>A														0	1601	-								A8K6T4|B3KWX9|O75704	RNA	SNP	ENST00000546471.1	37																																																																																						0.259	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		11	65	0	0	0	1	0	11	65				
KRTAP19-4	337971	broad.mit.edu	37	21	31869332	31869332	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr21:31869332G>A	ENST00000334058.2	-	1	119	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	33						intermediate filament (GO:0005882)		p.R33C(1)		central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCCAGTCTGCGGAAGCTGCCA	0.532																																						ENST00000334058.2																			1	Substitution - Missense(1)	p.R33C(1)	central_nervous_system(1)	central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(97-99)Cgc>Tgc		keratin associated protein 19-4							126.0	130.0	129.0					21																	31869332		2203	4300	6503	SO:0001583	missense	337971					intermediate filament		g.chr21:31869332G>A	AP001708	CCDS33534.1	21q22.1	2011-02-10			ENSG00000186967	ENSG00000186967		"""Keratin associated proteins"""	18939	protein-coding gene	gene with protein product						12359730	Standard	NM_181610		Approved	KAP19.4	uc011acz.2	Q3LI73	OTTHUMG00000057767	ENST00000334058.2:c.97C>T	21.37:g.31869332G>A	ENSP00000335567:p.Arg33Cys						p.R33C	NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN			1	119	-			33					Q17RT4|Q17RT6	Missense_Mutation	SNP	ENST00000334058.2	37	c.97C>T	CCDS33534.1	.	.	.	.	.	.	.	.	.	.	G	5.415	0.261727	0.10239	.	.	ENSG00000186967	ENST00000334058	T	0.10477	2.87	4.54	-1.56	0.08532	.	.	.	.	.	T	0.13072	0.0317	.	.	.	0.09310	N	1	D	0.56035	0.974	P	0.48114	0.567	T	0.16928	-1.0386	8	0.87932	D	0	.	7.3204	0.26523	0.0:0.2703:0.2662:0.4635	.	33	Q3LI73	KR194_HUMAN	C	33	ENSP00000335567:R33C	ENSP00000335567:R33C	R	-	1	0	KRTAP19-4	30791203	0.000000	0.05858	0.000000	0.03702	0.421000	0.31385	-0.849000	0.04322	-0.393000	0.07739	0.585000	0.79938	CGC		0.532	KRTAP19-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128219.2			4	118	0	0	0	1	0	4	118				
SPOCK3	50859	broad.mit.edu	37	4	167713337	167713337	+	Silent	SNP	C	C	T			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr4:167713337C>T	ENST00000357154.3	-	8	839	c.702G>A	c.(700-702)ctG>ctA	p.L234L	SPOCK3_ENST00000502330.1_Silent_p.L234L|SPOCK3_ENST00000541637.1_Silent_p.L136L|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000511269.1_Silent_p.L231L|SPOCK3_ENST00000512648.1_Silent_p.L231L|SPOCK3_ENST00000541354.1_Silent_p.L114L|SPOCK3_ENST00000510741.1_Intron|SPOCK3_ENST00000506886.1_Silent_p.L234L|SPOCK3_ENST00000511531.1_Silent_p.L234L|SPOCK3_ENST00000504953.1_Silent_p.L231L|SPOCK3_ENST00000421836.2_Silent_p.L183L|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000357545.4_Silent_p.L231L|SPOCK3_ENST00000534949.1_Silent_p.L138L|SPOCK3_ENST00000512681.1_Silent_p.L136L	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	234					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TCTCAGGCCTCAGCAATGTTT	0.398																																						ENST00000357154.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.(700-702)ctG>ctA		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3							108.0	90.0	96.0					4																	167713337		2203	4300	6503	SO:0001819	synonymous_variant	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167713337C>T	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.702G>A	4.37:g.167713337C>T						SPOCK3_ENST00000504953.1_Silent_p.L231L|SPOCK3_ENST00000512648.1_Silent_p.L231L|SPOCK3_ENST00000357545.4_Silent_p.L231L|SPOCK3_ENST00000535728.1_Intron|SPOCK3_ENST00000541637.1_Silent_p.L136L|SPOCK3_ENST00000511531.1_Silent_p.L234L|SPOCK3_ENST00000534949.1_Silent_p.L138L|SPOCK3_ENST00000541354.1_Silent_p.L114L|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Silent_p.L136L|SPOCK3_ENST00000502330.1_Silent_p.L234L|SPOCK3_ENST00000510741.1_Intron|SPOCK3_ENST00000511269.1_Silent_p.L231L|SPOCK3_ENST00000506886.1_Silent_p.L234L|SPOCK3_ENST00000421836.2_Silent_p.L183L	p.L234L	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	8	839	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	234					B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Silent	SNP	ENST00000357154.3	37	c.702G>A	CCDS54817.1																																																																																				0.398	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			28	44	0	0	0	1	0	28	44				
KCNAB1	7881	broad.mit.edu	37	3	156009785	156009785	+	Intron	SNP	C	C	G			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr3:156009785C>G	ENST00000490337.1	+	2	339				KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000389634.5_Missense_Mutation_p.P30R|KCNAB1_ENST00000302490.8_Missense_Mutation_p.P30R	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1						learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TCCACCGCCCCCAATGTGGTG	0.577																																						ENST00000302490.8																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(88-90)cCc>cGc		potassium voltage-gated channel, shaker-related subfamily, beta member 1							69.0	64.0	66.0					3																	156009785		2203	4300	6503	SO:0001627	intron_variant	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:156009785C>G	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.276-129620C>G	3.37:g.156009785C>G						KCNAB1_ENST00000490337.1_Intron|KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000389634.5_Missense_Mutation_p.P30R|KCNAB1_ENST00000389636.5_Intron	p.P30R	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		1	960	+			49					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	37	c.89C>G	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885351	0.91814	.	.	ENSG00000169282	ENST00000302490;ENST00000389634	T;T	0.12361	3.14;2.69	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000002	T	0.22742	0.0549	L	0.59436	1.845	0.80722	D	1	P;B	0.44241	0.829;0.161	P;B	0.45449	0.481;0.14	T	0.01280	-1.1397	10	0.62326	D	0.03	.	17.9603	0.89083	0.0:1.0:0.0:0.0	.	30;30	F8W6W4;B3KPZ4	.;.	R	30	ENSP00000305858:P30R;ENSP00000374285:P30R	ENSP00000305858:P30R	P	+	2	0	KCNAB1	157492479	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.623000	0.83113	2.349000	0.79799	0.460000	0.39030	CCC		0.577	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		4	44	0	0	0	1	0	4	44				
ADAD2	161931	broad.mit.edu	37	16	84230300	84230300	+	Missense_Mutation	SNP	G	G	A	rs142962765	byFrequency	TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr16:84230300G>A	ENST00000315906.5	+	9	1626	c.1574G>A	c.(1573-1575)cGg>cAg	p.R525Q	RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.R607Q|RP11-486L19.2_ENST00000561900.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	525	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.R607Q(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TCCTTTCTCCGGGCCTTTCAC	0.637													G|||	4	0.000798722	0.0	0.0	5008	,	,		17185	0.0		0.004	False		,,,				2504	0.0					ENST00000268624.3																			1	Substitution - Missense(1)	p.R607Q(1)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						c.(1819-1821)cGg>cAg		adenosine deaminase domain containing 2		G	GLN/ARG,GLN/ARG	2,4398	4.2+/-10.8	0,2,2198	75.0	79.0	78.0		1574,1820	2.0	0.4	16	dbSNP_134	78	9,8591	7.1+/-27.0	0,9,4291	yes	missense,missense	ADAD2	NM_001145400.1,NM_139174.3	43,43	0,11,6489	AA,AG,GG		0.1047,0.0455,0.0846	possibly-damaging,possibly-damaging	525/584,607/666	84230300	11,12989	2200	4300	6500	SO:0001583	missense	161931				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	g.chr16:84230300G>A	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.1574G>A	16.37:g.84230300G>A	ENSP00000325153:p.Arg525Gln					RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.R525Q|RP11-486L19.2_ENST00000536986.1_RNA	p.R607Q	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN			10	1913	+			525					B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	c.1820G>A	CCDS45536.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	6.365	0.435480	0.12045	4.55E-4	0.001047	ENSG00000140955	ENST00000315906;ENST00000268624	D;D	0.93426	-3.22;-3.22	5.27	1.96	0.26148	Adenosine deaminase/editase (2);	0.401901	0.24016	N	0.042340	D	0.83105	0.5182	L	0.33485	1.01	0.09310	N	1	B;P	0.36048	0.147;0.534	B;B	0.24541	0.053;0.054	T	0.72232	-0.4353	10	0.27785	T	0.31	-5.7823	3.3523	0.07156	0.0954:0.1771:0.5583:0.1693	.	525;607	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	Q	525;607	ENSP00000325153:R525Q;ENSP00000268624:R607Q	ENSP00000268624:R607Q	R	+	2	0	ADAD2	82787801	0.002000	0.14202	0.385000	0.26158	0.010000	0.07245	0.075000	0.14686	0.562000	0.29204	0.585000	0.79938	CGG		0.637	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		26	38	0	0	0	1	0	26	38				
MFSD12	126321	broad.mit.edu	37	19	3551146	3551146	+	Silent	SNP	G	G	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr19:3551146G>A	ENST00000355415.2	-	2	514	c.345C>T	c.(343-345)tgC>tgT	p.C115C	AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000389395.3_Silent_p.C115C|MFSD12_ENST00000398558.4_Silent_p.C115C|MFSD12_ENST00000591878.1_5'UTR	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	115					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CACAGCCCAGGCAGGGGCTGA	0.667																																						ENST00000355415.2																			0				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						c.(343-345)tgC>tgT		major facilitator superfamily domain containing 12							25.0	31.0	29.0					19																	3551146		2058	4196	6254	SO:0001819	synonymous_variant	126321				transmembrane transport	integral to membrane		g.chr19:3551146G>A	AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 28"""	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.345C>T	19.37:g.3551146G>A						AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_5'UTR|MFSD12_ENST00000389395.3_Silent_p.C115C|MFSD12_ENST00000398558.4_Silent_p.C115C	p.C115C	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN			2	514	-			115					A8MXP7|D6W615|E9PAJ8|Q8N459	Silent	SNP	ENST00000355415.2	37	c.345C>T	CCDS42465.1																																																																																				0.667	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452949.2	NM_174983		13	14	0	0	0	1	0	13	14				
NOTCH4	4855	broad.mit.edu	37	6	32185012	32185012	+	Silent	SNP	G	G	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr6:32185012G>A	ENST00000375023.3	-	10	1794	c.1656C>T	c.(1654-1656)atC>atT	p.I552I	NOTCH4_ENST00000465528.1_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	552	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGCACTCATCGATATCCTCCT	0.622																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(1654-1656)atC>atT		notch 4							61.0	51.0	55.0					6																	32185012		1511	2708	4219	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32185012G>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1656C>T	6.37:g.32185012G>A							p.I552I	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			10	1794	-			552			EGF-like 14; calcium-binding (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.1656C>T	CCDS34420.1																																																																																				0.622	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			5	7	0	0	0	1	0	5	7				
ZNF208	7757	broad.mit.edu	37	19	22154884	22154884	+	Silent	SNP	T	T	C			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr19:22154884T>C	ENST00000397126.4	-	4	3100	c.2952A>G	c.(2950-2952)acA>acG	p.T984T	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	984					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGATTGAGAATGTACTAAAGC	0.358																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2950-2952)acA>acG		zinc finger protein 208							53.0	57.0	55.0					19																	22154884		2094	4237	6331	SO:0001819	synonymous_variant	7757							g.chr19:22154884T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2952A>G	19.37:g.22154884T>C						ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.T984T	NM_007153.3	NP_009084.2					4	3100	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.2952A>G	CCDS54240.1																																																																																				0.358	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		3	58	0	0	0	1	0	3	58				
USP44	84101	broad.mit.edu	37	12	95914854	95914854	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr12:95914854C>A	ENST00000258499.3	-	5	2146	c.1858G>T	c.(1858-1860)Gac>Tac	p.D620Y	USP44_ENST00000393091.2_Missense_Mutation_p.D620Y|USP44_ENST00000537435.2_Missense_Mutation_p.D620Y|USP44_ENST00000552440.1_Intron	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	620	USP.				mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GCGGACAAGTCATAGATAAAG	0.453																																						ENST00000258499.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(1858-1860)Gac>Tac		ubiquitin specific peptidase 44							148.0	132.0	138.0					12																	95914854		2203	4300	6503	SO:0001583	missense	84101				anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr12:95914854C>A	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.1858G>T	12.37:g.95914854C>A	ENSP00000258499:p.Asp620Tyr					USP44_ENST00000552440.1_Intron|USP44_ENST00000537435.2_Missense_Mutation_p.D620Y|USP44_ENST00000393091.2_Missense_Mutation_p.D620Y	p.D620Y	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN			5	2146	-			620					B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	c.1858G>T	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308312	0.81247	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000537435	T;T;T	0.03272	3.99;3.99;3.99	5.81	4.91	0.64330	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.201989	0.50627	D	0.000110	T	0.22627	0.0546	M	0.89534	3.04	0.58432	D	0.999998	D	0.76494	0.999	D	0.73708	0.981	T	0.04930	-1.0917	10	0.87932	D	0	.	14.0428	0.64687	0.0:0.9266:0.0:0.0734	.	620	Q9H0E7	UBP44_HUMAN	Y	620	ENSP00000258499:D620Y;ENSP00000376806:D620Y;ENSP00000442629:D620Y	ENSP00000258499:D620Y	D	-	1	0	USP44	94438985	1.000000	0.71417	0.999000	0.59377	0.924000	0.55760	3.916000	0.56416	1.446000	0.47643	0.485000	0.47835	GAC		0.453	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		21	53	1	0	4.35082e-09	1	5.07595e-09	21	53				
MAGEC1	9947	broad.mit.edu	37	X	140995016	140995016	+	Missense_Mutation	SNP	T	T	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chrX:140995016T>A	ENST00000285879.4	+	4	2112	c.1826T>A	c.(1825-1827)cTc>cAc	p.L609H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	609										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTCTCCTCTCTACTTTCCT	0.572										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1825-1827)cTc>cAc		melanoma antigen family C, 1							193.0	205.0	201.0					X																	140995016		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995016T>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1826T>A	X.37:g.140995016T>A	ENSP00000285879:p.Leu609His	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L609H	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2112	+	Acute lymphoblastic leukemia(192;6.56e-05)		609					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1826T>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	t	0.021	-1.420247	0.01136	.	.	ENSG00000155495	ENST00000285879	T	0.02280	4.36	0.96	-1.92	0.07618	.	.	.	.	.	T	0.01254	0.0041	N	0.08118	0	0.18873	N	0.999981	B	0.13594	0.008	B	0.12156	0.007	T	0.44651	-0.9314	9	0.41790	T	0.15	.	3.46	0.07529	0.6118:0.1904:0.0:0.1978	.	609	O60732	MAGC1_HUMAN	H	609	ENSP00000285879:L609H	ENSP00000285879:L609H	L	+	2	0	MAGEC1	140822682	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.882000	0.00714	-3.326000	0.00186	-3.493000	0.00034	CTC		0.572	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		4	146	0	0	0	1	0	4	146				
REV1	51455	broad.mit.edu	37	2	100020239	100020239	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr2:100020239G>T	ENST00000258428.3	-	19	3313	c.3085C>A	c.(3085-3087)Cag>Aag	p.Q1029K	REV1_ENST00000465835.1_5'UTR|RP11-527J8.1_ENST00000608144.1_RNA|REV1_ENST00000393445.3_Missense_Mutation_p.Q1028K	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1029					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGCTCCCTCTGAAGTTCAGCA	0.517								Direct reversal of damage																														ENST00000258428.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(3085-3087)Cag>Aag	Direct reversal of damage	REV1, polymerase (DNA directed)							88.0	80.0	83.0					2																	100020239		2203	4300	6503	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100020239G>T	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.3085C>A	2.37:g.100020239G>T	ENSP00000258428:p.Gln1029Lys					REV1_ENST00000393445.3_Missense_Mutation_p.Q1028K|REV1_ENST00000465835.1_5'UTR	p.Q1029K	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN			19	3313	-			1029					O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.3085C>A	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905016	0.92035	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.31510	1.51;1.49	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.58736	0.2143	M	0.74881	2.28	0.80722	D	1	D;D	0.76494	0.993;0.999	D;D	0.85130	0.952;0.997	T	0.49551	-0.8928	10	0.33940	T	0.23	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	1029;1028	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	K	1028;1029	ENSP00000377091:Q1028K;ENSP00000258428:Q1029K	ENSP00000258428:Q1029K	Q	-	1	0	REV1	99386671	1.000000	0.71417	0.995000	0.50966	0.972000	0.66771	8.321000	0.89997	2.878000	0.98634	0.650000	0.86243	CAG		0.517	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		16	39	1	0	0.00400662	1	0.0040901	16	39				
TTI1	9675	broad.mit.edu	37	20	36641587	36641587	+	Missense_Mutation	SNP	G	G	C			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr20:36641587G>C	ENST00000373448.2	-	3	870	c.632C>G	c.(631-633)cCt>cGt	p.P211R	TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Missense_Mutation_p.P211R|TTI1_ENST00000449821.1_Missense_Mutation_p.P211R	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	211					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TGAGATTCCAGGTAAAAAAGA	0.433																																						ENST00000373448.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(631-633)cCt>cGt		TELO2 interacting protein 1							84.0	85.0	84.0					20																	36641587		2203	4300	6503	SO:0001583	missense	9675						binding	g.chr20:36641587G>C	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.632C>G	20.37:g.36641587G>C	ENSP00000362547:p.Pro211Arg					TTI1_ENST00000487362.1_Intron|TTI1_ENST00000449821.1_Missense_Mutation_p.P211R|TTI1_ENST00000373447.3_Missense_Mutation_p.P211R	p.P211R	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			3	870	-			211					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	c.632C>G	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305338	0.40795	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.60299	0.2;0.2;0.2	5.45	4.51	0.55191	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75339	0.3836	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79215	-0.1895	10	0.87932	D	0	-14.5463	13.417	0.60974	0.0745:0.0:0.9255:0.0	.	211	O43156	TTI1_HUMAN	R	211	ENSP00000362547:P211R;ENSP00000362546:P211R;ENSP00000407270:P211R	ENSP00000362546:P211R	P	-	2	0	TTI1	36075001	1.000000	0.71417	0.997000	0.53966	0.427000	0.31564	9.017000	0.93651	1.545000	0.49373	-0.142000	0.14014	CCT		0.433	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		6	76	0	0	0	1	0	6	76				
FLNB	2317	broad.mit.edu	37	3	58097609	58097609	+	Splice_Site	SNP	G	G	C			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr3:58097609G>C	ENST00000295956.4	+	17	2740		c.e17+1		FLNB_ENST00000419752.2_Splice_Site|FLNB_ENST00000348383.5_Splice_Site|FLNB_ENST00000357272.4_Splice_Site|FLNB_ENST00000429972.2_Splice_Site|FLNB_ENST00000493452.1_Splice_Site|FLNB_ENST00000490882.1_Splice_Site|FLNB_ENST00000358537.3_Splice_Site	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta						actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGCAAAGCAGGTAAGATGGCA	0.582																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.e17+1		filamin B, beta							66.0	57.0	60.0					3																	58097609		2203	4300	6503	SO:0001630	splice_region_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58097609G>C	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.2575+1G>C	3.37:g.58097609G>C						FLNB_ENST00000295956.4_Splice_Site|FLNB_ENST00000419752.2_Splice_Site|FLNB_ENST00000429972.2_Splice_Site|FLNB_ENST00000490882.1_Splice_Site|FLNB_ENST00000358537.3_Splice_Site|FLNB_ENST00000348383.5_Splice_Site|FLNB_ENST00000493452.1_Splice_Site				O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	17	2740	+								B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Splice_Site	SNP	ENST00000295956.4	37		CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787555	0.90367	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7606	0.91849	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FLNB	58072649	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.921000	0.87530	2.436000	0.82500	0.650000	0.86243	.		0.582	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	Intron	5	11	0	0	0	1	0	5	11				
E2F4	1874	broad.mit.edu	37	16	67233242	67233242	+	IGR	SNP	C	C	T			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr16:67233242C>T	ENST00000379378.3	+	0	2096				MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000477898.1_5'Flank|ELMO3_ENST00000393997.2_Missense_Mutation_p.R58W|ELMO3_ENST00000360833.1_Missense_Mutation_p.R58W	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GGCGCCTCCGCGGAACGTGGT	0.682																																						ENST00000393997.2																			0				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18						c.(172-174)Cgg>Tgg		engulfment and cell motility 3							27.0	35.0	32.0					16																	67233242		2099	4215	6314	SO:0001628	intergenic_variant	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67233242C>T	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67233242C>T						ELMO3_ENST00000360833.1_Missense_Mutation_p.R58W	p.R58W	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	1	229	+		Ovarian(137;0.0563)	5					A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	c.172C>T	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486097	0.84854	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.15256	2.45;2.44	5.19	3.0	0.34707	.	0.308861	0.24915	U	0.034595	T	0.32436	0.0829	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.66084	0.941;0.941	T	0.05971	-1.0853	10	0.72032	D	0.01	-23.8447	11.3358	0.49503	0.3408:0.6592:0.0:0.0	.	58;58	F8W9E7;Q96BJ8-3	.;.	W	58	ENSP00000354077:R58W;ENSP00000377566:R58W	ENSP00000354077:R58W	R	+	1	2	ELMO3	65790743	0.998000	0.40836	1.000000	0.80357	0.927000	0.56198	0.562000	0.23531	1.164000	0.42652	0.563000	0.77884	CGG		0.682	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		3	24	0	0	0	1	0	3	24				
SLC8A3	6547	broad.mit.edu	37	14	70633727	70633727	+	Silent	SNP	G	G	A			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr14:70633727G>A	ENST00000381269.2	-	2	2166	c.1413C>T	c.(1411-1413)gaC>gaT	p.D471D	SLC8A3_ENST00000534137.1_Silent_p.D471D|SLC8A3_ENST00000356921.2_Silent_p.D471D|SLC8A3_ENST00000357887.3_Silent_p.D471D|SLC8A3_ENST00000528359.1_Silent_p.D471D	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	471	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)	p.D471D(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CAAAAATGTCGTCATCAATTA	0.512																																						ENST00000381269.2																			1	Substitution - coding silent(1)	p.D471D(1)	ovary(1)	NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(1411-1413)gaC>gaT		solute carrier family 8 (sodium/calcium exchanger), member 3							162.0	163.0	163.0					14																	70633727		2203	4300	6503	SO:0001819	synonymous_variant	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70633727G>A	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1413C>T	14.37:g.70633727G>A						SLC8A3_ENST00000528359.1_Silent_p.D471D|SLC8A3_ENST00000534137.1_Silent_p.D471D|SLC8A3_ENST00000356921.2_Silent_p.D471D|SLC8A3_ENST00000357887.3_Silent_p.D471D	p.D471D	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	2166	-			471			Calx-beta 1.		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	ENST00000381269.2	37	c.1413C>T	CCDS35498.1																																																																																				0.512	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			73	94	0	0	0	1	0	73	94				
MFSD2A	84879	broad.mit.edu	37	1	40432806	40432806	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr1:40432806C>T	ENST00000372809.5	+	9	1158	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C	MFSD2A_ENST00000480630.1_Intron|MFSD2A_ENST00000372811.5_Missense_Mutation_p.R326C|MFSD2A_ENST00000420632.2_Missense_Mutation_p.R170C	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	339					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CTTGGGCTTCCGCAATGAATT	0.552																																						ENST00000372809.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1015-1017)Cgc>Tgc		major facilitator superfamily domain containing 2A							108.0	91.0	97.0					1																	40432806		2203	4300	6503	SO:0001583	missense	84879				transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr1:40432806C>T	AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"""major facilitator superfamily domain containing 2"""	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.1015C>T	1.37:g.40432806C>T	ENSP00000361895:p.Arg339Cys					MFSD2A_ENST00000420632.2_Missense_Mutation_p.R170C|MFSD2A_ENST00000372811.5_Missense_Mutation_p.R326C|MFSD2A_ENST00000480630.1_Intron	p.R339C	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN			9	1158	+			339					A8K675|Q6UWU5|Q96F59|Q9BRC8	Missense_Mutation	SNP	ENST00000372809.5	37	c.1015C>T	CCDS44118.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577045	0.86645	.	.	ENSG00000168389	ENST00000372811;ENST00000420632;ENST00000372809	D;D;D	0.87729	-2.29;-2.29;-2.29	5.52	5.52	0.82312	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.93337	0.7876	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.985;0.967	D	0.93257	0.6640	10	0.59425	D	0.04	-11.4893	18.3749	0.90432	0.0:1.0:0.0:0.0	.	287;339;326	B4DNN7;Q8NA29;Q8NA29-2	.;MFS2A_HUMAN;.	C	326;170;339	ENSP00000361898:R326C;ENSP00000391261:R170C;ENSP00000361895:R339C	ENSP00000361895:R339C	R	+	1	0	MFSD2A	40205393	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	6.282000	0.72639	2.756000	0.94617	0.563000	0.77884	CGC		0.552	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793		4	49	0	0	0	1	0	4	49				
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			0							g.chr2:175585079delA																													2.37:g.175585079delA			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			2	4						2	4	---	---	---	---
RP5-991G20.1	0	broad.mit.edu	37	16	72763869	72763870	+	RNA	DEL	AA	AA	-			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr16:72763869_72763870delAA	ENST00000563328.2	+	0	164																											GGTCCAAAACAAAAAAAAAAAA	0.431																																						ENST00000563328.2																			0																																																			0							g.chr16:72763869_72763870delAA																													16.37:g.72763879_72763880delAA														0	164	+									RNA	DEL	ENST00000563328.2	37																																																																																						0.431	RP5-991G20.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000421937.2			4	6						4	6	---	---	---	---
MICAL3	57553	broad.mit.edu	37	22	18314825	18314827	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-VN-A943-01A-11D-A41K-08	TCGA-VN-A943-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1befde85-bf60-46a5-88b0-f6319b14a2fe	ac89aa0d-1731-4467-9eb3-57726a089b7f	g.chr22:18314825_18314827delCTC	ENST00000441493.2	-	21	3200_3202	c.2848_2850delGAG	c.(2848-2850)gagdel	p.E950del		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	950	Glu-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GCAGGCGAGGctcctcctcctcc	0.557																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(2848-2850)del		microtubule associated monooxygenase, calponin and LIM domain containing 3				113,3533		2,109,1712						1.8	0.5			25	286,7086		1,284,3401	no	coding	MICAL3	NM_015241.2		3,393,5113	A1A1,A1R,RR		3.8795,3.0993,3.6213				399,10619				SO:0001651	inframe_deletion	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18314825_18314827delCTC	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2848_2850delGAG	22.37:g.18314834_18314836delCTC	ENSP00000416015:p.Glu950del						p.E950del	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	21	3200_3202	-		all_epithelial(15;0.198)	950			Glu-rich.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	In_Frame_Del	DEL	ENST00000441493.2	37	c.2848_2850delGAG	CCDS46659.1																																																																																				0.557	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			3	6						3	6	---	---	---	---
