#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
AKR1D1	6718	broad.mit.edu	37	7	137773485	137773485	+	Missense_Mutation	SNP	C	C	T	rs368152787		TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr7:137773485C>T	ENST00000242375.3	+	2	274	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	RN7SKP223_ENST00000410582.1_RNA|AKR1D1_ENST00000468877.2_Intron|AKR1D1_ENST00000411726.2_Missense_Mutation_p.R78W|AKR1D1_ENST00000432161.1_Missense_Mutation_p.R78W	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	78					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	AGGAAAGGTGCGGAGGGAAGA	0.458																																						ENST00000242375.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(232-234)Cgg>Tgg		aldo-keto reductase family 1, member D1		C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	95.0	83.0	87.0		232,232,232	-4.4	0.0	7		87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	AKR1D1	NM_001190906.1,NM_001190907.1,NM_005989.3	101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	78/286,78/291,78/327	137773485	1,13005	2203	4300	6503	SO:0001583	missense	6718				androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	g.chr7:137773485C>T	Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"""Aldo-keto reductases"""	388	protein-coding gene	gene with protein product	"""delta 4-3-ketosteroid-5-beta-reductase"""	604741	"""aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"""	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.232C>T	7.37:g.137773485C>T	ENSP00000242375:p.Arg78Trp					AKR1D1_ENST00000411726.2_Missense_Mutation_p.R78W|AKR1D1_ENST00000432161.1_Missense_Mutation_p.R78W|AKR1D1_ENST00000468877.2_Intron	p.R78W	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN			2	274	+			78					A1L4P6|A8K060|B4DPN3|B4DPN8	Missense_Mutation	SNP	ENST00000242375.3	37	c.232C>T	CCDS5846.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945400	0.34377	0.0	1.16E-4	ENSG00000122787	ENST00000432161;ENST00000411726;ENST00000242375	T;T;T	0.25414	1.8;1.8;1.8	5.21	-4.42	0.03579	NADP-dependent oxidoreductase domain (3);	0.677726	0.13859	N	0.357761	T	0.37705	0.1013	L	0.55481	1.735	0.18873	N	0.999983	D;D;D	0.67145	0.99;0.996;0.97	P;P;P	0.56042	0.79;0.575;0.541	T	0.51593	-0.8686	10	0.87932	D	0	.	18.9061	0.92462	0.8625:0.1374:0.0:0.0	.	78;78;78	B4DPN8;B4DPN3;P51857	.;.;AK1D1_HUMAN	W	78	ENSP00000389197:R78W;ENSP00000402374:R78W;ENSP00000242375:R78W	ENSP00000242375:R78W	R	+	1	2	AKR1D1	137424025	0.998000	0.40836	0.010000	0.14722	0.010000	0.07245	2.439000	0.44846	-0.604000	0.05760	-0.188000	0.12872	CGG		0.458	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341637.1	NM_005989		6	11	0	0	0	1	0	6	11				
APTX	54840	broad.mit.edu	37	9	32973634	32973634	+	Silent	SNP	T	T	A			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr9:32973634T>A	ENST00000379819.1	-	8	932	c.933A>T	c.(931-933)gtA>gtT	p.V311V	APTX_ENST00000436040.2_3'UTR|APTX_ENST00000468275.1_Silent_p.V297V|APTX_ENST00000309615.3_3'UTR|APTX_ENST00000476858.1_Silent_p.V257V|APTX_ENST00000463596.1_Silent_p.V297V|APTX_ENST00000397172.3_Silent_p.V239V|APTX_ENST00000379817.2_Silent_p.V297V|APTX_ENST00000379813.3_Silent_p.V297V|APTX_ENST00000379825.2_3'UTR			Q7Z2E3	APTX_HUMAN	aprataxin	311					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)		CAGCCTCTTGTACCATCTCGA	0.453								Editing and processing nucleases																														ENST00000379817.2																			0				endometrium(1)|lung(1)|ovary(2)|prostate(2)	6						c.(889-891)gtA>gtT	Editing and processing nucleases	aprataxin							89.0	87.0	87.0					9																	32973634		2203	4300	6503	SO:0001819	synonymous_variant	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.chr9:32973634T>A	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.933A>T	9.37:g.32973634T>A						APTX_ENST00000309615.3_3'UTR|APTX_ENST00000463596.1_Silent_p.V297V|APTX_ENST00000476858.1_Silent_p.V257V|APTX_ENST00000379825.2_3'UTR|APTX_ENST00000379813.3_Silent_p.V297V|APTX_ENST00000468275.1_Silent_p.V297V|APTX_ENST00000397172.3_Silent_p.V239V|APTX_ENST00000436040.2_3'UTR|APTX_ENST00000379819.1_Silent_p.V311V	p.V297V			Q7Z2E3	APTX_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)	7	1087	-			311					A8MTN4|D3DRK9|D3DRL0|Q0P662|Q5T781|Q5T782|Q5T784|Q6JV81|Q6JV82|Q6JV85|Q7Z2F3|Q7Z336|Q7Z5R5|Q7Z6V7|Q7Z6V8|Q9NXM5	Silent	SNP	ENST00000379819.1	37	c.891A>T																																																																																					0.453	APTX-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000052028.2	NM_017692		31	16	0	0	0	1	0	31	16				
ISL1	3670	broad.mit.edu	37	5	50689350	50689350	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr5:50689350C>T	ENST00000230658.7	+	6	1541	c.956C>T	c.(955-957)cCg>cTg	p.P319L	ISL1_ENST00000511384.1_Missense_Mutation_p.P296L	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	319	Gln-rich.				atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GAAGGAGGACCGGGCTCTAAT	0.393																																						ENST00000230658.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(955-957)cCg>cTg		ISL LIM homeobox 1							90.0	88.0	89.0					5																	50689350		1853	4094	5947	SO:0001583	missense	3670				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:50689350C>T	BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.956C>T	5.37:g.50689350C>T	ENSP00000230658:p.Pro319Leu					ISL1_ENST00000511384.1_Missense_Mutation_p.P296L	p.P319L	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN			6	1541	+		Lung NSC(810;0.000845)|Breast(144;0.0411)	319			Gln-rich.		P20663|P47894	Missense_Mutation	SNP	ENST00000230658.7	37	c.956C>T	CCDS43314.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202108	0.58234	.	.	ENSG00000016082	ENST00000230658;ENST00000511384	D;D	0.84944	-1.92;-1.9	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.81221	0.4777	L	0.48642	1.525	0.80722	D	1	P	0.51537	0.946	B	0.39660	0.306	T	0.79035	-0.1968	10	0.19590	T	0.45	.	19.82	0.96590	0.0:1.0:0.0:0.0	.	319	P61371	ISL1_HUMAN	L	319;296	ENSP00000230658:P319L;ENSP00000422676:P296L	ENSP00000230658:P319L	P	+	2	0	ISL1	50725107	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.763000	0.85283	2.660000	0.90430	0.591000	0.81541	CCG		0.393	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202		4	40	0	0	0	1	0	4	40				
TAF13	6884	broad.mit.edu	37	1	109607266	109607266	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr1:109607266T>C	ENST00000338366.5	-	4	308	c.254A>G	c.(253-255)gAt>gGt	p.D85G		NM_005645.3	NP_005636.1	Q15543	TAF13_HUMAN	TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa	85					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(1)	3		all_epithelial(167;0.000102)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0138)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.166)|all cancers(265;0.191)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAAGACGATATCTTCAACTTG	0.333																																						ENST00000338366.5																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(253-255)gAt>gGt		TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa							196.0	207.0	203.0					1																	109607266		2203	4296	6499	SO:0001583	missense	6884				transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein C-terminus binding|sequence-specific DNA binding transcription factor activity	g.chr1:109607266T>C	XM_496381	CCDS30788.1	1p13.3	2010-04-22	2002-08-29	2001-12-07	ENSG00000197780	ENSG00000197780			11546	protein-coding gene	gene with protein product		600774	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, K, 18kD"""	TAF2K		7729427	Standard	NM_005645		Approved	TAFII18	uc001dwm.1	Q15543	OTTHUMG00000042363	ENST00000338366.5:c.254A>G	1.37:g.109607266T>C	ENSP00000355051:p.Asp85Gly						p.D85G	NM_005645.3	NP_005636.1	Q15543	TAF13_HUMAN		Colorectal(144;0.0138)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.166)|all cancers(265;0.191)|LUSC - Lung squamous cell carcinoma(189;0.228)	4	308	-		all_epithelial(167;0.000102)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	85					B2R5E5|Q5TYV6	Missense_Mutation	SNP	ENST00000338366.5	37	c.254A>G	CCDS30788.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.450077	0.84101	.	.	ENSG00000197780	ENST00000338366	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.83857	0.5345	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88561	0.3123	9	0.87932	D	0	.	12.8717	0.57968	0.0:0.0:0.0:1.0	.	85	Q15543	TAF13_HUMAN	G	85	.	ENSP00000355051:D85G	D	-	2	0	TAF13	109408789	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.502000	0.81614	1.984000	0.57885	0.454000	0.30748	GAT		0.333	TAF13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100609.2	NM_005645		68	101	0	0	0	1	0	68	101				
COL4A4	1286	broad.mit.edu	37	2	228012208	228012208	+	De_novo_Start_InFrame	SNP	A	A	T			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr2:228012208A>T	ENST00000396625.3	-	0	199				COL4A4_ENST00000329662.7_De_novo_Start_InFrame	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4						axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ATCGCAGGCAAGTCTTAGTAC	0.453																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98								collagen, type IV, alpha 4							143.0	148.0	146.0					2																	228012208		1897	4134	6031			1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:228012208A>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892		2.37:g.228012208A>T						COL4A4_ENST00000329662.7_De_novo_Start_InFrame		NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	0	199	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)						A8MTZ1|Q53RW9|Q53S42|Q53WR1	Translation_Start_Site	SNP	ENST00000396625.3	37		CCDS42828.1																																																																																				0.453	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		55	153	0	0	0	1	0	55	153				
MUC17	140453	broad.mit.edu	37	7	100678325	100678325	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr7:100678325C>T	ENST00000306151.4	+	3	3692	c.3628C>T	c.(3628-3630)Cca>Tca	p.P1210S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1210	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P1210S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.512																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.P1210S(1)	kidney(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(3628-3630)Cca>Tca		mucin 17, cell surface associated							314.0	282.0	293.0					7																	100678325		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678325C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3628C>T	7.37:g.100678325C>T	ENSP00000302716:p.Pro1210Ser						p.P1210S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	3692	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1210			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3628C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.250	-1.006920	0.02112	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	0.74	-1.48	0.08745	.	.	.	.	.	T	0.01222	0.0040	N	0.03608	-0.345	0.09310	N	1	B	0.20459	0.045	B	0.11329	0.006	T	0.43750	-0.9372	9	0.05351	T	0.99	.	2.4021	0.04404	0.4773:0.3097:0.0:0.213	.	1210	Q685J3	MUC17_HUMAN	S	1210	ENSP00000302716:P1210S	ENSP00000302716:P1210S	P	+	1	0	MUC17	100465045	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.785000	0.04628	-1.054000	0.03214	0.134000	0.15878	CCA		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	677	0	0	0	1	0	6	677				
DUS3L	56931	broad.mit.edu	37	19	5786534	5786534	+	Silent	SNP	T	T	G			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr19:5786534T>G	ENST00000309061.7	-	10	1602	c.1506A>C	c.(1504-1506)tcA>tcC	p.S502S	PRR22_ENST00000419421.2_5'Flank|DUS3L_ENST00000320699.8_Silent_p.S260S|CTB-54O9.9_ENST00000586012.1_5'Flank|DUS3L_ENST00000590681.1_5'Flank	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	502							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CATCCTCAAATGACAAGATGT	0.572																																						ENST00000309061.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(1504-1506)tcA>tcC		dihydrouridine synthase 3-like (S. cerevisiae)							99.0	73.0	82.0					19																	5786534		2203	4300	6503	SO:0001819	synonymous_variant	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5786534T>G		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1506A>C	19.37:g.5786534T>G						DUS3L_ENST00000320699.8_Silent_p.S260S	p.S502S	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			10	1602	-			502					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Silent	SNP	ENST00000309061.7	37	c.1506A>C	CCDS32880.1																																																																																				0.572	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		11	4	0	0	0	1	0	11	4				
ZNF10	7556	broad.mit.edu	37	12	133727720	133727720	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr12:133727720A>G	ENST00000248211.6	+	3	362	c.140A>G	c.(139-141)tAt>tGt	p.Y47C	ZNF10_ENST00000402932.2_Missense_Mutation_p.Y47C|CTD-2140B24.4_ENST00000540096.2_Missense_Mutation_p.Y47C|ZNF10_ENST00000426665.2_Missense_Mutation_p.Y47C|ZNF10_ENST00000540927.1_3'UTR|ZNF268_ENST00000416488.1_Missense_Mutation_p.Y47C	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	47	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CTGGAGAACTATAAGAACCTG	0.453																																						ENST00000248211.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26						c.(139-141)tAt>tGt		zinc finger protein 10							194.0	182.0	186.0					12																	133727720		2203	4300	6503	SO:0001583	missense	7556				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:133727720A>G	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.140A>G	12.37:g.133727720A>G	ENSP00000248211:p.Tyr47Cys					ZNF268_ENST00000416488.1_Missense_Mutation_p.Y47C|ZNF10_ENST00000540927.1_3'UTR|CTD-2140B24.4_ENST00000540096.2_Missense_Mutation_p.Y47C|ZNF10_ENST00000426665.2_Missense_Mutation_p.Y47C|ZNF10_ENST00000402932.2_Missense_Mutation_p.Y47C	p.Y47C	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	3	362	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	47			KRAB.		B2RBS1|Q8TC91	Missense_Mutation	SNP	ENST00000248211.6	37	c.140A>G	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	A	13.38	2.219304	0.39201	.	.	ENSG00000256223;ENSG00000256223;ENSG00000256223;ENSG00000256223;ENSG00000256223;ENSG00000256223;ENSG00000090612	ENST00000540609;ENST00000248211;ENST00000536877;ENST00000426665;ENST00000402932;ENST00000537119;ENST00000416488	T;T;T;T;T;T;T	0.02525	4.26;4.26;4.26;4.26;4.26;5.33;4.26	3.43	3.43	0.39272	Krueppel-associated box (4);	0.000000	0.30093	N	0.010429	T	0.10508	0.0257	M	0.70108	2.13	0.80722	D	1	D	0.63880	0.993	P	0.61477	0.889	T	0.02774	-1.1112	9	.	.	.	.	11.3134	0.49377	1.0:0.0:0.0:0.0	.	47	P21506	ZNF10_HUMAN	C	47;47;47;47;47;5;47	ENSP00000438232:Y47C;ENSP00000248211:Y47C;ENSP00000441339:Y47C;ENSP00000393814:Y47C;ENSP00000384893:Y47C;ENSP00000437397:Y5C;ENSP00000409295:Y47C	.	Y	+	2	0	ZNF10;ZNF268	132237793	0.995000	0.38212	0.888000	0.34837	0.098000	0.18820	3.725000	0.54970	1.560000	0.49568	0.460000	0.39030	TAT		0.453	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394		33	43	0	0	0	1	0	33	43				
FAM21C	253725	broad.mit.edu	37	10	46250556	46250556	+	Silent	SNP	T	T	C			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr10:46250556T>C	ENST00000336378.4	+	15	1531	c.1413T>C	c.(1411-1413)tcT>tcC	p.S471S	FAM21C_ENST00000374362.2_Silent_p.S471S|FAM21C_ENST00000540872.1_Silent_p.S471S|FAM21C_ENST00000359860.4_Silent_p.S415S|FAM21C_ENST00000537517.1_Silent_p.S447S	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	471					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GCAAACCTTCTAAAACACGTA	0.458																																						ENST00000336378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1411-1413)tcT>tcC		family with sequence similarity 21, member C							55.0	55.0	55.0					10																	46250556		1886	4125	6011	SO:0001819	synonymous_variant	253725							g.chr10:46250556T>C		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1413T>C	10.37:g.46250556T>C						FAM21C_ENST00000537517.1_Silent_p.S447S|FAM21C_ENST00000540872.1_Silent_p.S471S|FAM21C_ENST00000359860.4_Silent_p.S415S|FAM21C_ENST00000374362.2_Silent_p.S471S	p.S471S	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN			15	1531	+			471					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Silent	SNP	ENST00000336378.4	37	c.1413T>C																																																																																					0.458	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				4	4	0	0	0	1	0	4	4				
ZNF180	7733	broad.mit.edu	37	19	44981361	44981361	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr19:44981361A>T	ENST00000221327.4	-	5	1618	c.1337T>A	c.(1336-1338)tTc>tAc	p.F446Y	ZNF180_ENST00000391956.4_Missense_Mutation_p.F421Y|ZNF180_ENST00000592529.1_Missense_Mutation_p.F419Y|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000585514.1_5'Flank	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	446					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GCTCTGCCTGAATGACTTTCC	0.393																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	ENST00000221327.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33						c.(1336-1338)tTc>tAc		zinc finger protein 180							76.0	78.0	77.0					19																	44981361		2203	4300	6503	SO:0001583	missense	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44981361A>T	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1337T>A	19.37:g.44981361A>T	ENSP00000221327:p.Phe446Tyr					ZNF180_ENST00000391956.4_Missense_Mutation_p.F421Y|ZNF180_ENST00000592529.1_Missense_Mutation_p.F419Y	p.F446Y	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN			5	1618	-		Prostate(69;0.0435)	446					B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	c.1337T>A	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.287480	0.80803	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.40756	1.02;1.02	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44285	D	0.000478	T	0.63486	0.2515	M	0.73319	2.225	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.67821	-0.5571	10	0.87932	D	0	-9.9259	14.0492	0.64725	1.0:0.0:0.0:0.0	.	421;445;446	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	Y	446;421	ENSP00000221327:F446Y;ENSP00000375818:F421Y	ENSP00000221327:F446Y	F	-	2	0	ZNF180	49673201	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.618000	0.61211	1.950000	0.56595	0.377000	0.23210	TTC		0.393	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		24	30	0	0	0	1	0	24	30				
COPG1	22820	broad.mit.edu	37	3	128976661	128976661	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr3:128976661C>G	ENST00000314797.6	+	10	933	c.829C>G	c.(829-831)Ctg>Gtg	p.L277V		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	277					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										CATCGTCAATCTGCCAGGCTG	0.567																																						ENST00000314797.6																			0											c.(829-831)Ctg>Gtg		coatomer protein complex, subunit gamma 1							142.0	141.0	141.0					3																	128976661		2203	4300	6503	SO:0001583	missense	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128976661C>G	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.829C>G	3.37:g.128976661C>G	ENSP00000325002:p.Leu277Val						p.L277V	NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN			10	933	+			277					A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	c.829C>G	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502013	0.44455	.	.	ENSG00000181789	ENST00000314797	T	0.20332	2.08	6.04	4.24	0.50183	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.102110	0.42964	N	0.000640	T	0.31575	0.0801	M	0.86420	2.815	0.37070	D	0.898501	B	0.14805	0.011	B	0.22152	0.038	T	0.37314	-0.9711	10	0.56958	D	0.05	-2.7762	11.5572	0.50755	0.0:0.851:0.0:0.149	.	277	Q9Y678	COPG_HUMAN	V	277	ENSP00000325002:L277V	ENSP00000325002:L277V	L	+	1	2	COPG	130459351	0.965000	0.33210	0.698000	0.30274	0.072000	0.16883	2.155000	0.42301	1.578000	0.49821	0.650000	0.86243	CTG		0.567	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		8	233	0	0	0	1	0	8	233				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	41	0	0	0	1	0	3	41				
COL18A1	80781	broad.mit.edu	37	21	46888461	46888461	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr21:46888461C>T	ENST00000359759.4	+	2	1678	c.1657C>T	c.(1657-1659)Ctc>Ttc	p.L553F	COL18A1_ENST00000355480.5_Missense_Mutation_p.L318F|COL18A1_ENST00000400337.2_Missense_Mutation_p.L138F			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	553	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CATCTCCCTGCTCTACACAGA	0.662																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(1657-1659)Ctc>Ttc		collagen, type XVIII, alpha 1							73.0	87.0	82.0					21																	46888461		2163	4253	6416	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46888461C>T		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.1657C>T	21.37:g.46888461C>T	ENSP00000352798:p.Leu553Phe					COL18A1_ENST00000355480.5_Missense_Mutation_p.L318F|COL18A1_ENST00000400337.2_Missense_Mutation_p.L138F	p.L553F			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	2	1678	+			553			TSP N-terminal.		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.1657C>T		.	.	.	.	.	.	.	.	.	.	C	9.928	1.214040	0.22289	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	T;T;T	0.51325	0.71;0.71;0.71	4.45	2.17	0.27698	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.232563	0.36303	N	0.002666	T	0.33206	0.0855	L	0.42245	1.32	0.25052	N	0.991128	B;B;B	0.25809	0.135;0.111;0.024	B;B;B	0.26416	0.069;0.041;0.03	T	0.11966	-1.0566	10	0.32370	T	0.25	.	4.5204	0.11956	0.0:0.5353:0.0:0.4647	.	553;318;138	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	F	138;138;318;553;553	ENSP00000383191:L138F;ENSP00000347665:L318F;ENSP00000352798:L553F	ENSP00000347665:L318F	L	+	1	0	COL18A1	45712889	1.000000	0.71417	0.902000	0.35471	0.069000	0.16628	4.472000	0.60189	0.993000	0.38866	0.511000	0.50034	CTC		0.662	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			49	82	0	0	0	1	0	49	82				
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					ENST00000278882.3																			2	Substitution - Missense(2)	p.D62V(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(184-186)gAt>gTt																																						SO:0001583	missense	284802							g.chr20:29625941A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V	p.D62V							5	565	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.185A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	102	0	0	0	1	0	4	102				
OR2AG2	338755	broad.mit.edu	37	11	6789864	6789864	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr11:6789864T>C	ENST00000338569.2	-	1	422	c.325A>G	c.(325-327)Agc>Ggc	p.S109G		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCCTCAGCGCTACCCATTGTC	0.522																																						ENST00000338569.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28						c.(325-327)Agc>Ggc		olfactory receptor, family 2, subfamily AG, member 2							93.0	80.0	85.0					11																	6789864		2201	4296	6497	SO:0001583	missense	338755				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6789864T>C	AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"""GPCR / Class A : Olfactory receptors"""	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.325A>G	11.37:g.6789864T>C	ENSP00000342697:p.Ser109Gly						p.S109G	NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	422	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	109						Missense_Mutation	SNP	ENST00000338569.2	37	c.325A>G	CCDS31413.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.863267	0.00064	.	.	ENSG00000188124	ENST00000338569	T	0.01192	5.2	4.36	-6.17	0.02091	GPCR, rhodopsin-like superfamily (1);	1.061700	0.07353	N	0.882758	T	0.00384	0.0012	N	0.00677	-1.265	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46679	-0.9174	10	0.02654	T	1	.	7.8099	0.29226	0.1073:0.3599:0.0:0.5328	.	109	A6NM03	O2AG2_HUMAN	G	109	ENSP00000342697:S109G	ENSP00000342697:S109G	S	-	1	0	OR2AG2	6746440	0.000000	0.05858	0.007000	0.13788	0.046000	0.14306	-1.558000	0.02164	-1.184000	0.02720	-2.193000	0.00311	AGC		0.522	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		21	45	0	0	0	1	0	21	45				
STARD5	80765	broad.mit.edu	37	15	81614837	81614837	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr15:81614837C>T	ENST00000302824.6	-	3	219	c.194G>A	c.(193-195)tGg>tAg	p.W65*	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|STARD5_ENST00000559913.1_5'UTR	NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	65	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				C21-steroid hormone biosynthetic process (GO:0006700)|lipid transport (GO:0006869)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)	lipid binding (GO:0008289)			large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						CACACAGTCCCACACCTCCTC	0.473																																						ENST00000302824.6																			0				large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						c.(193-195)tGg>tAg		StAR-related lipid transfer (START) domain containing 5							173.0	133.0	146.0					15																	81614837		2203	4300	6503	SO:0001587	stop_gained	80765				C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding	g.chr15:81614837C>T	AF480304	CCDS10318.1	15q26	2011-09-12	2007-08-16		ENSG00000172345	ENSG00000172345		"""StAR-related lipid transfer (START) domain containing"""	18065	protein-coding gene	gene with protein product		607050	"""START domain containing 5"""			12011452	Standard	NM_181900		Approved	MGC10327	uc002bgm.3	Q9NSY2	OTTHUMG00000147342	ENST00000302824.6:c.194G>A	15.37:g.81614837C>T	ENSP00000304032:p.Trp65*					STARD5_ENST00000559913.1_5'UTR	p.W65*	NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN			3	219	-			65			START.		P59094	Nonsense_Mutation	SNP	ENST00000302824.6	37	c.194G>A	CCDS10318.1	.	.	.	.	.	.	.	.	.	.	C	35	5.432002	0.96150	.	.	ENSG00000172345	ENST00000302824	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-0.0028	15.4056	0.74874	0.1397:0.8603:0.0:0.0	.	.	.	.	X	65	.	ENSP00000304032:W65X	W	-	2	0	STARD5	79401892	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	5.163000	0.64948	2.741000	0.93983	0.650000	0.86243	TGG		0.473	STARD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303950.2			7	78	0	0	0	1	0	7	78				
ARHGAP29	9411	broad.mit.edu	37	1	94640173	94640173	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr1:94640173G>A	ENST00000260526.6	-	23	3220	c.3038C>T	c.(3037-3039)aCc>aTc	p.T1013I	ARHGAP29_ENST00000482481.1_5'Flank	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1013					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCTAATCTTGGTCCTTGGAGT	0.398																																						ENST00000260526.6																			0				NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(3037-3039)aCc>aTc		Rho GTPase activating protein 29							132.0	129.0	130.0					1																	94640173		2203	4300	6503	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94640173G>A		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.3038C>T	1.37:g.94640173G>A	ENSP00000260526:p.Thr1013Ile						p.T1013I	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	23	3220	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	1013					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.3038C>T	CCDS748.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.533336	0.27387	.	.	ENSG00000137962	ENST00000260526	T	0.23147	1.92	5.73	3.52	0.40303	.	0.000000	0.39687	N	0.001283	T	0.10078	0.0247	L	0.40543	1.245	0.80722	D	1	B	0.21606	0.058	B	0.18263	0.021	T	0.05162	-1.0902	10	0.35671	T	0.21	-0.9345	11.9413	0.52903	0.2108:0.0:0.7892:0.0	.	1013	Q52LW3	RHG29_HUMAN	I	1013	ENSP00000260526:T1013I	ENSP00000260526:T1013I	T	-	2	0	ARHGAP29	94412761	1.000000	0.71417	0.986000	0.45419	0.631000	0.37964	1.578000	0.36525	1.420000	0.47138	0.591000	0.81541	ACC		0.398	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		47	75	0	0	0	1	0	47	75				
DCLK1	9201	broad.mit.edu	37	13	36700177	36700177	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr13:36700177G>A	ENST00000360631.3	-	2	309	c.98C>T	c.(97-99)cCg>cTg	p.P33L	DCLK1_ENST00000379892.4_Missense_Mutation_p.P33L|DCLK1_ENST00000255448.4_Missense_Mutation_p.P33L			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	33					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GCTGTGCGTCGGGCTCGGCAG	0.607																																						ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(97-99)cCg>cTg		doublecortin-like kinase 1							68.0	66.0	67.0					13																	36700177		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36700177G>A	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.98C>T	13.37:g.36700177G>A	ENSP00000353846:p.Pro33Leu					DCLK1_ENST00000379892.4_Missense_Mutation_p.P33L|DCLK1_ENST00000360631.3_Missense_Mutation_p.P33L	p.P33L	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	2	309	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	33					B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.98C>T		.	.	.	.	.	.	.	.	.	.	G	34	5.393952	0.96009	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	T;T;T	0.70869	-0.52;-0.52;1.35	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.84515	0.5489	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.83950	0.0316	10	0.48119	T	0.1	.	19.7802	0.96413	0.0:0.0:1.0:0.0	.	33	O15075-2	.	L	33	ENSP00000255448:P33L;ENSP00000353846:P33L;ENSP00000369222:P33L	ENSP00000255448:P33L	P	-	2	0	DCLK1	35598177	1.000000	0.71417	0.997000	0.53966	0.950000	0.60333	9.643000	0.98464	2.675000	0.91044	0.655000	0.94253	CCG		0.607	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		60	30	0	0	0	1	0	60	30				
SCNN1G	6340	broad.mit.edu	37	16	23226426	23226426	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr16:23226426C>A	ENST00000300061.2	+	13	1729	c.1586C>A	c.(1585-1587)tCc>tAc	p.S529Y	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	529					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ATGCTTCTGTCCAACTTCGGT	0.542																																						ENST00000300061.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1585-1587)tCc>tAc		sodium channel, non-voltage-gated 1, gamma subunit	Amiloride(DB00594)|Triamterene(DB00384)						85.0	67.0	73.0					16																	23226426		2197	4300	6497	SO:0001583	missense	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23226426C>A	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1586C>A	16.37:g.23226426C>A	ENSP00000300061:p.Ser529Tyr						p.S529Y	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	13	1729	+			529					P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	c.1586C>A	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357833	0.61403	.	.	ENSG00000166828	ENST00000300061	T	0.66638	-0.22	5.22	4.27	0.50696	.	0.077187	0.56097	D	0.000033	D	0.82903	0.5138	M	0.86343	2.81	0.52501	D	0.999958	D	0.89917	1.0	D	0.91635	0.999	D	0.85657	0.1286	10	0.87932	D	0	-36.6611	12.9036	0.58139	0.0:0.9213:0.0:0.0787	.	529	P51170	SCNNG_HUMAN	Y	529	ENSP00000300061:S529Y	ENSP00000300061:S529Y	S	+	2	0	SCNN1G	23133927	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	5.714000	0.68422	1.181000	0.42912	-0.258000	0.10820	TCC		0.542	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		20	28	1	0	2.4624e-09	1	2.74752e-09	20	28				
SLC5A12	159963	broad.mit.edu	37	11	26714150	26714150	+	Splice_Site	SNP	T	T	C			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr11:26714150T>C	ENST00000396005.3	-	9	1350		c.e9-2		SLC5A12_ENST00000280467.6_Splice_Site	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12						sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GCCACGGTGCTATAAGGAAAG	0.488																																						ENST00000396005.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.e9-2		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12							68.0	60.0	63.0					11																	26714150		2203	4299	6502	SO:0001630	splice_region_variant	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26714150T>C	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.1041-2A>G	11.37:g.26714150T>C						SLC5A12_ENST00000280467.6_Splice_Site		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN			9	1350	-								Q86UC7	Splice_Site	SNP	ENST00000396005.3	37		CCDS7860.2	.	.	.	.	.	.	.	.	.	.	T	20.5	4.001939	0.74932	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9512	0.79840	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC5A12	26670726	1.000000	0.71417	0.950000	0.38849	0.842000	0.47809	7.122000	0.77169	2.250000	0.74265	0.482000	0.46254	.		0.488	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498	Intron	4	56	0	0	0	1	0	4	56				
CYP4A22	284541	broad.mit.edu	37	1	47611577	47611577	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr1:47611577A>G	ENST00000371891.3	+	10	1293	c.1262A>G	c.(1261-1263)aAc>aGc	p.N421S	CYP4A22_ENST00000371890.3_Missense_Mutation_p.N323S|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Missense_Mutation_p.N421S|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	421						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTCACCACAACCCAAAAGTG	0.517																																					Pancreas(88;1240 1470 2099 14214 37557)	ENST00000371891.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1261-1263)aAc>aGc		cytochrome P450, family 4, subfamily A, polypeptide 22							336.0	325.0	329.0					1																	47611577		2203	4300	6503	SO:0001583	missense	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47611577A>G		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.1262A>G	1.37:g.47611577A>G	ENSP00000360958:p.Asn421Ser					CYP4A22_ENST00000294337.3_Missense_Mutation_p.N421S|CYP4A22_ENST00000371890.3_Missense_Mutation_p.N323S|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA	p.N421S	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN			10	1293	+			421					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	c.1262A>G	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	a	16.31	3.087876	0.55968	.	.	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	T;T;T	0.70516	-0.49;-0.39;-0.39	1.44	1.44	0.22558	.	0.000000	0.85682	D	0.000000	T	0.72447	0.3461	M	0.72118	2.19	0.42433	D	0.992683	B;P	0.48589	0.384;0.912	P;P	0.51297	0.627;0.665	T	0.72947	-0.4137	10	0.66056	D	0.02	.	6.9793	0.24694	1.0:0.0:0.0:0.0	.	323;421	Q5TCH5;Q5TCH4	.;CP4AM_HUMAN	S	323;421;421	ENSP00000360957:N323S;ENSP00000360958:N421S;ENSP00000294337:N421S	ENSP00000294337:N421S	N	+	2	0	CYP4A22	47384164	1.000000	0.71417	0.942000	0.38095	0.409000	0.31022	6.223000	0.72257	0.912000	0.36772	0.163000	0.16589	AAC		0.517	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		150	230	0	0	0	1	0	150	230				
NAA25	80018	broad.mit.edu	37	12	112481439	112481439	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr12:112481439T>C	ENST00000261745.4	-	18	2488	c.2240A>G	c.(2239-2241)aAg>aGg	p.K747R		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	747						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CTGAATATCCTTCTCAATAAA	0.408																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(2239-2241)aAg>aGg		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							68.0	66.0	67.0					12																	112481439		2203	4300	6503	SO:0001583	missense	80018					cytoplasm	protein binding	g.chr12:112481439T>C	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.2240A>G	12.37:g.112481439T>C	ENSP00000261745:p.Lys747Arg						p.K747R	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			18	2488	-			747					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	c.2240A>G	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	T	9.063	0.994915	0.19043	.	.	ENSG00000111300	ENST00000261745	T	0.23348	1.91	5.79	3.46	0.39613	.	0.186307	0.44097	D	0.000498	T	0.10766	0.0263	N	0.08118	0	0.42842	D	0.99405	B;B	0.09022	0.001;0.002	B;B	0.08055	0.003;0.002	T	0.12837	-1.0532	10	0.12103	T	0.63	-12.4694	7.9178	0.29829	0.0:0.2655:0.0:0.7345	.	747;747	A8K8X0;Q14CX7	.;NAA25_HUMAN	R	747	ENSP00000261745:K747R	ENSP00000261745:K747R	K	-	2	0	NAA25	110965822	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.091000	0.30915	1.017000	0.39495	0.533000	0.62120	AAG		0.408	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		28	46	0	0	0	1	0	28	46				
TM9SF3	56889	broad.mit.edu	37	10	98307666	98307666	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr10:98307666T>C	ENST00000371142.4	-	8	1256	c.1040A>G	c.(1039-1041)tAt>tGt	p.Y347C	TM9SF3_ENST00000490192.1_5'UTR	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	347						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TTGTCTAGCATACAGACTTCC	0.353																																						ENST00000371142.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15						c.(1039-1041)tAt>tGt		transmembrane 9 superfamily member 3							141.0	140.0	140.0					10																	98307666		2203	4300	6503	SO:0001583	missense	56889					integral to membrane	binding	g.chr10:98307666T>C	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.1040A>G	10.37:g.98307666T>C	ENSP00000360184:p.Tyr347Cys					TM9SF3_ENST00000490192.1_5'UTR	p.Y347C	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	8	1256	-		Colorectal(252;0.158)	347					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Missense_Mutation	SNP	ENST00000371142.4	37	c.1040A>G	CCDS7450.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.359893	0.82353	.	.	ENSG00000077147	ENST00000371142	T	0.57273	0.41	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.83681	0.5307	H	0.98901	4.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.90308	0.4335	10	0.87932	D	0	-14.0883	15.1768	0.72920	0.0:0.0:0.0:1.0	.	279;347	Q8WUB5;Q9HD45	.;TM9S3_HUMAN	C	347	ENSP00000360184:Y347C	ENSP00000360184:Y347C	Y	-	2	0	TM9SF3	98297656	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.940000	0.87693	2.234000	0.73211	0.533000	0.62120	TAT		0.353	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		32	61	0	0	0	1	0	32	61				
KCTD20	222658	broad.mit.edu	37	6	36454762	36454762	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr6:36454762A>G	ENST00000373731.2	+	8	1461	c.1070A>G	c.(1069-1071)aAg>aGg	p.K357R	KCTD20_ENST00000474988.1_3'UTR|KCTD20_ENST00000544295.1_Missense_Mutation_p.K111R|KCTD20_ENST00000536244.1_Missense_Mutation_p.K212R|KCTD20_ENST00000449081.2_Missense_Mutation_p.K191R	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	357					protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						TCATGGGAAAAGGAAGAAGGG	0.478																																						ENST00000373731.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						c.(1069-1071)aAg>aGg		potassium channel tetramerization domain containing 20							115.0	117.0	116.0					6																	36454762		2203	4300	6503	SO:0001583	missense	222658					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr6:36454762A>G	BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"""chromosome 6 open reading frame 69"", ""potassium channel tetramerisation domain containing 20"""	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.1070A>G	6.37:g.36454762A>G	ENSP00000362836:p.Lys357Arg					KCTD20_ENST00000536244.1_Missense_Mutation_p.K212R|KCTD20_ENST00000449081.2_Missense_Mutation_p.K191R|KCTD20_ENST00000544295.1_Missense_Mutation_p.K111R|KCTD20_ENST00000474988.1_3'UTR	p.K357R	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN			8	1461	+			357					B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Missense_Mutation	SNP	ENST00000373731.2	37	c.1070A>G	CCDS4821.1	.	.	.	.	.	.	.	.	.	.	A	35	5.466013	0.96257	.	.	ENSG00000112078	ENST00000373731;ENST00000544295;ENST00000449081;ENST00000536244	D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.90170	0.6928	M	0.66297	2.02	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	D	0.91371	0.5119	10	0.87932	D	0	-27.0254	16.5582	0.84512	1.0:0.0:0.0:0.0	.	191;357	Q7Z5Y7-2;Q7Z5Y7	.;KCD20_HUMAN	R	357;111;191;212	ENSP00000362836:K357R;ENSP00000440150:K111R;ENSP00000412205:K191R;ENSP00000439118:K212R	ENSP00000362836:K357R	K	+	2	0	KCTD20	36562740	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.308000	0.77769	0.533000	0.62120	AAG		0.478	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040345.2	NM_173562		4	152	0	0	0	1	0	4	152				
PAPPA	5069	broad.mit.edu	37	9	118974096	118974096	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr9:118974096T>G	ENST00000328252.3	+	4	2172	c.1803T>G	c.(1801-1803)aaT>aaG	p.N601K	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	601					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACCTCTGCAATGATACCAACC	0.532																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(1801-1803)aaT>aaG		pregnancy-associated plasma protein A, pappalysin 1							208.0	199.0	202.0					9																	118974096		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118974096T>G		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1803T>G	9.37:g.118974096T>G	ENSP00000330658:p.Asn601Lys					PAPPA_ENST00000534838.1_Intron	p.N601K	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			4	2172	+			601					B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.1803T>G	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	T	13.58	2.279921	0.40294	.	.	ENSG00000182752	ENST00000328252	T	0.01665	4.7	5.63	4.5	0.54988	Peptidase M43, pregnancy-associated plasma-A (1);Metallopeptidase, catalytic domain (1);	0.254195	0.50627	D	0.000109	T	0.01421	0.0046	N	0.14661	0.345	0.80722	D	1	B	0.19073	0.033	B	0.21360	0.034	T	0.59637	-0.7417	10	0.42905	T	0.14	-9.1385	8.0309	0.30465	0.1213:0.0672:0.0:0.8115	.	601	Q13219	PAPP1_HUMAN	K	601	ENSP00000330658:N601K	ENSP00000330658:N601K	N	+	3	2	PAPPA	118013917	0.993000	0.37304	1.000000	0.80357	0.994000	0.84299	0.190000	0.17057	1.080000	0.41073	0.454000	0.30748	AAT		0.532	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		6	341	0	0	0	1	0	6	341				
ZNF814	730051	broad.mit.edu	37	19	58385140	58385140	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr19:58385140G>T	ENST00000435989.2	-	3	1852	c.1618C>A	c.(1618-1620)Caa>Aaa	p.Q540K	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	540					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						GTGTGAATTTGCTGATGGTTC	0.448																																						ENST00000435989.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1618-1620)Caa>Aaa		zinc finger protein 814							156.0	126.0	135.0					19																	58385140		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385140G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1618C>A	19.37:g.58385140G>T	ENSP00000410545:p.Gln540Lys					ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron	p.Q540K	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1852	-			540					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1618C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	6.840	0.524123	0.13066	.	.	ENSG00000204514	ENST00000435989	T	0.12879	2.64	1.67	-1.5	0.08691	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05731	0.0150	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.37502	-0.9703	9	0.40728	T	0.16	.	7.5279	0.27666	0.0:0.0:0.4529:0.5471	.	540	B7Z6K7	ZN814_HUMAN	K	540	ENSP00000410545:Q540K	ENSP00000410545:Q540K	Q	-	1	0	ZNF814	63076952	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.579000	0.05834	-0.559000	0.06110	0.306000	0.20318	CAA		0.448	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	40	1	0	0.115264	1	0.115264	3	40				
ATP10D	57205	broad.mit.edu	37	4	47525029	47525029	+	Splice_Site	SNP	G	G	T			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr4:47525029G>T	ENST00000273859.3	+	4	755	c.486G>T	c.(484-486)agG>agT	p.R162S	ATP10D_ENST00000504445.1_Splice_Site_p.R162S	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	162					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ttaattaCAGGAAAGAGAAAA	0.303																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.e4-1		ATPase, class V, type 10D							42.0	42.0	42.0					4																	47525029		2203	4300	6503	SO:0001630	splice_region_variant	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47525029G>T	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.486-1G>T	4.37:g.47525029G>T						ATP10D_ENST00000504445.1_Splice_Site_p.R162_splice	p.R162_splice	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			4	755	+			162					A2RRC8|D6REN2|Q8NC70|Q96SR3	Splice_Site	SNP	ENST00000273859.3	37	c.485_splice	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	G	7.997	0.754468	0.15778	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.73897	-0.79;-0.79	5.94	3.31	0.37934	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.278266	0.34291	N	0.004099	T	0.60919	0.2306	L	0.33137	0.985	0.31539	N	0.660197	B;B	0.12630	0.006;0.002	B;B	0.18263	0.014;0.021	T	0.56177	-0.8022	9	.	.	.	.	10.2594	0.43416	0.209:0.0:0.791:0.0	.	162;162	Q9P241;Q6PEW3	AT10D_HUMAN;.	S	162	ENSP00000273859:R162S;ENSP00000420909:R162S	.	R	+	3	2	ATP10D	47219786	0.995000	0.38212	0.998000	0.56505	0.279000	0.26890	0.314000	0.19432	0.429000	0.26202	-0.350000	0.07774	AGG		0.303	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453	Missense_Mutation	8	27	1	0	0.00448238	1	0.00456858	8	27				
NOC3L	64318	broad.mit.edu	37	10	96106181	96106181	+	Splice_Site	SNP	C	C	A			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr10:96106181C>A	ENST00000371361.3	-	11	1490		c.e11+1		NOC3L_ENST00000543788.1_Splice_Site|NOC3L_ENST00000371350.1_Splice_Site|NOC3L_ENST00000463649.1_5'Flank	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)						fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ATAAGTCAAACCTTTCTCTGC	0.259																																						ENST00000371361.3																			0				endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29						c.e11+1		nucleolar complex associated 3 homolog (S. cerevisiae)							61.0	60.0	61.0					10																	96106181		2189	4267	6456	SO:0001630	splice_region_variant	64318					nuclear speck|nucleolus	binding	g.chr10:96106181C>A	AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1389+1G>T	10.37:g.96106181C>A						NOC3L_ENST00000543788.1_Splice_Site|NOC3L_ENST00000371350.1_Splice_Site		NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN			11	1490	-		Colorectal(252;0.0897)						Q9H5M6|Q9H9D8	Splice_Site	SNP	ENST00000371361.3	37		CCDS7433.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704677	0.68615	.	.	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0686	0.93123	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOC3L	96096171	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	6.776000	0.75023	2.609000	0.88269	0.655000	0.94253	.		0.259	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451	Intron	7	21	1	0	0.00198382	1	0.0020416	7	21				
COL8A2	1296	broad.mit.edu	37	1	36564394	36564394	+	Silent	SNP	C	C	T			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr1:36564394C>T	ENST00000397799.1	-	4	1112	c.888G>A	c.(886-888)ggG>ggA	p.G296G	COL8A2_ENST00000481785.1_Silent_p.G231G|COL8A2_ENST00000303143.4_Silent_p.G296G			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	296	Triple-helical region.				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCCTTTGGCCCCTGATGGGC	0.706																																						ENST00000397799.1																			0				NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(886-888)ggG>ggA		collagen, type VIII, alpha 2							13.0	16.0	15.0					1																	36564394		2141	4207	6348	SO:0001819	synonymous_variant	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36564394C>T	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.888G>A	1.37:g.36564394C>T						COL8A2_ENST00000481785.1_Silent_p.G231G|COL8A2_ENST00000303143.4_Silent_p.G296G	p.G296G			P25067	CO8A2_HUMAN			4	1112	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	296			Triple-helical region.		Q5JV31|Q8TEJ5	Silent	SNP	ENST00000397799.1	37	c.888G>A	CCDS403.1																																																																																				0.706	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		16	40	0	0	0	1	0	16	40				
TTC3	7267	broad.mit.edu	37	21	38560808	38560808	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr21:38560808G>C	ENST00000399017.2	+	39	7683	c.4936G>C	c.(4936-4938)Gaa>Caa	p.E1646Q	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.E1646Q|TTC3_ENST00000354749.2_Missense_Mutation_p.E1646Q|TTC3-AS1_ENST00000424733.1_RNA	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1646					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ATCCGTACTTGAAAACTGGAA	0.393																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(4936-4938)Gaa>Caa		tetratricopeptide repeat domain 3							69.0	66.0	67.0					21																	38560808		2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38560808G>C	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.4936G>C	21.37:g.38560808G>C	ENSP00000381981:p.Glu1646Gln					TTC3-AS1_ENST00000424733.1_RNA|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.E1646Q|TTC3_ENST00000354749.2_Missense_Mutation_p.E1646Q	p.E1646Q	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			39	7683	+		Myeloproliferative disorder(46;0.0412)	1646					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.4936G>C	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.626123	0.28978	.	.	ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749	T;T;T	0.11169	2.8;2.8;2.8	5.38	2.47	0.30058	.	0.452885	0.21321	N	0.076479	T	0.14743	0.0356	L	0.55834	1.745	0.80722	D	1	D	0.56521	0.976	P	0.52598	0.703	T	0.05321	-1.0892	10	0.38643	T	0.18	-12.2099	4.5589	0.12151	0.2047:0.1818:0.6135:0.0	.	1646	P53804	TTC3_HUMAN	Q	1646	ENSP00000347889:E1646Q;ENSP00000381981:E1646Q;ENSP00000346791:E1646Q	ENSP00000346791:E1646Q	E	+	1	0	TTC3	37482678	0.988000	0.35896	0.973000	0.42090	0.567000	0.35839	0.802000	0.27069	0.592000	0.29728	-0.165000	0.13383	GAA		0.393	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			15	30	0	0	0	1	0	15	30				
BTBD8	284697	broad.mit.edu	37	1	92604962	92604962	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr1:92604962G>T	ENST00000342818.3	+	6	1044	c.808G>T	c.(808-810)Gac>Tac	p.D270Y	BTBD8_ENST00000370382.3_Missense_Mutation_p.D270Y|BTBD8_ENST00000540648.1_Missense_Mutation_p.D270Y	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	270	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.					nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		AGGAACTCTGGACATTCCAGA	0.303																																						ENST00000370382.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16						c.(808-810)Gac>Tac		BTB (POZ) domain containing 8							109.0	117.0	114.0					1																	92604962		2203	4293	6496	SO:0001583	missense	284697					nucleus		g.chr1:92604962G>T	AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"""BTB/POZ domain containing"""	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.808G>T	1.37:g.92604962G>T	ENSP00000343686:p.Asp270Tyr					BTBD8_ENST00000342818.3_Missense_Mutation_p.D270Y|BTBD8_ENST00000540648.1_Missense_Mutation_p.D270Y	p.D270Y			Q5XKL5	BTBD8_HUMAN		all cancers(265;0.0153)|Epithelial(280;0.0982)	6	1075	+		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)	270			BTB 2.		Q6V9S5	Missense_Mutation	SNP	ENST00000342818.3	37	c.808G>T	CCDS737.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911234	0.72983	.	.	ENSG00000189195	ENST00000370382;ENST00000342818;ENST00000540648	T;T;T	0.68624	-0.34;-0.34;-0.34	5.21	5.21	0.72293	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000017	T	0.79240	0.4412	M	0.79258	2.445	0.41978	D	0.99078	D	0.89917	1.0	D	0.79784	0.993	T	0.81558	-0.0878	10	0.72032	D	0.01	-5.698	16.8895	0.86083	0.0:0.0:1.0:0.0	.	270	Q5XKL5	BTBD8_HUMAN	Y	270	ENSP00000359408:D270Y;ENSP00000343686:D270Y;ENSP00000443397:D270Y	ENSP00000343686:D270Y	D	+	1	0	BTBD8	92377550	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.284000	0.65627	2.597000	0.87782	0.655000	0.94253	GAC		0.303	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028372.1	NM_183242		21	44	1	0	1.87028e-06	1	2.04381e-06	21	44				
PDE7B	27115	broad.mit.edu	37	6	136476804	136476804	+	Silent	SNP	C	C	T			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr6:136476804C>T	ENST00000308191.6	+	8	922	c.619C>T	c.(619-621)Ctg>Ttg	p.L207L	RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	207	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	CATGCTTGGACTGCTGGCTGC	0.448																																						ENST00000308191.6																			0				breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(619-621)Ctg>Ttg		phosphodiesterase 7B	Dyphylline(DB00651)|Ketotifen(DB00920)						75.0	69.0	71.0					6																	136476804		2203	4300	6503	SO:0001819	synonymous_variant	27115				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr6:136476804C>T	AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"""Phosphodiesterases"""	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.619C>T	6.37:g.136476804C>T						RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	p.L207L	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	8	922	+	Colorectal(23;0.24)		207			Catalytic (By similarity).		Q5W154	Silent	SNP	ENST00000308191.6	37	c.619C>T	CCDS5175.1	.	.	.	.	.	.	.	.	.	.	C	9.707	1.156099	0.21454	.	.	ENSG00000171408	ENST00000446774	.	.	.	5.56	3.79	0.43588	.	.	.	.	.	T	0.51007	0.1649	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50742	-0.8792	4	.	.	.	.	12.4467	0.55654	0.0:0.8633:0.0:0.1367	.	.	.	.	I	101	.	.	T	+	2	0	PDE7B	136518497	0.999000	0.42202	1.000000	0.80357	0.963000	0.63663	3.303000	0.51858	0.826000	0.34661	-0.143000	0.13931	ACT		0.448	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042371.1			23	28	0	0	0	1	0	23	28				
CHEK2P2	646096	broad.mit.edu	37	15	20496736	20496736	+	RNA	SNP	C	C	G			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr15:20496736C>G	ENST00000555186.1	+	0	789					NR_038836.1				checkpoint kinase 2 pseudogene 2																		ACTCTGTCATCTTTCTTTTCT	0.393																																						ENST00000555186.1																			0																																																			646096							g.chr15:20496736C>G			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20496736C>G								NR_038836.1						0	789	+									RNA	SNP	ENST00000555186.1	37																																																																																						0.393	CHEK2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000414654.1	NR_038836		6	24	0	0	0	1	0	6	24				
KIF26A	26153	broad.mit.edu	37	14	104641958	104641958	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr14:104641958A>T	ENST00000423312.2	+	12	2833	c.2833A>T	c.(2833-2835)Agg>Tgg	p.R945W	KIF26A_ENST00000315264.7_Missense_Mutation_p.R806W	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	945					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GAGTGGAGGCAGGAGGCCACT	0.667																																						ENST00000315264.7																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(2416-2418)Agg>Tgg		kinesin family member 26A							12.0	15.0	14.0					14																	104641958		1897	4038	5935	SO:0001583	missense	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104641958A>T	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.2833A>T	14.37:g.104641958A>T	ENSP00000388241:p.Arg945Trp					KIF26A_ENST00000423312.2_Missense_Mutation_p.R945W	p.R806W			Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	11	2794	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	945					Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	c.2416A>T	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	a	21.2	4.112637	0.77210	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.79653	-1.29;-1.29	3.98	-4.92	0.03075	.	.	.	.	.	T	0.77471	0.4135	L	0.50333	1.59	0.27504	N	0.951893	D	0.58620	0.983	P	0.53006	0.715	T	0.70898	-0.4747	9	0.66056	D	0.02	.	6.017	0.19608	0.4385:0.4035:0.1579:0.0	.	945	Q9ULI4	KI26A_HUMAN	W	945;806	ENSP00000388241:R945W;ENSP00000325452:R806W	ENSP00000325452:R806W	R	+	1	2	KIF26A	103711711	0.377000	0.25106	0.020000	0.16555	0.192000	0.23643	1.114000	0.31196	-0.635000	0.05531	0.255000	0.18592	AGG		0.667	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			10	14	0	0	0	1	0	10	14				
MAP1B	4131	broad.mit.edu	37	5	71482572	71482572	+	Silent	SNP	C	C	T	rs111766097		TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr5:71482572C>T	ENST00000296755.7	+	4	799	c.501C>T	c.(499-501)acC>acT	p.T167T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	167					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGATTTTCACCGATCAAGAGG	0.493													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17690	0.0		0.0	False		,,,				2504	0.0				Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(499-501)acC>acT		microtubule-associated protein 1B		C		2,4404	4.2+/-10.8	0,2,2201	97.0	100.0	99.0		501	-2.3	1.0	5	dbSNP_132	99	0,8600		0,0,4300	no	coding-synonymous	MAP1B	NM_005909.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		167/2469	71482572	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71482572C>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.501C>T	5.37:g.71482572C>T							p.T167T	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	4	799	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	167					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.501C>T	CCDS4012.1																																																																																				0.493	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		42	17	0	0	0	1	0	42	17				
ZC3H15	55854	broad.mit.edu	37	2	187359982	187359982	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr2:187359982A>G	ENST00000337859.6	+	2	325	c.98A>G	c.(97-99)aAt>aGt	p.N33S	AC018867.1_ENST00000396985.1_5'Flank|ZC3H15_ENST00000544130.1_5'UTR|ZC3H15_ENST00000468120.1_3'UTR	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	33					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			GGTTTGAAGAATAAGAAAGGA	0.323																																						ENST00000337859.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15						c.(97-99)aAt>aGt		zinc finger CCCH-type containing 15							67.0	63.0	64.0					2																	187359982		1829	4080	5909	SO:0001583	missense	55854					cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding	g.chr2:187359982A>G		CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"""Zinc fingers, CCCH-type domain containing"""	29528	protein-coding gene	gene with protein product	"""likely ortholog of mouse immediate early response, erythropoietin 4"""					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.98A>G	2.37:g.187359982A>G	ENSP00000338788:p.Asn33Ser					ZC3H15_ENST00000544130.1_5'UTR|ZC3H15_ENST00000468120.1_3'UTR	p.N33S	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)		2	325	+			33					B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Missense_Mutation	SNP	ENST00000337859.6	37	c.98A>G	CCDS42791.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.012660	0.93346	.	.	ENSG00000065548	ENST00000337859;ENST00000536434	T	0.62232	0.04	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.84813	0.5555	H	0.94698	3.57	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.89186	0.3547	10	0.87932	D	0	-23.3739	16.0843	0.81031	1.0:0.0:0.0:0.0	.	33	Q8WU90	ZC3HF_HUMAN	S	33	ENSP00000338788:N33S	ENSP00000338788:N33S	N	+	2	0	ZC3H15	187068227	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.272000	0.95707	2.191000	0.70037	0.533000	0.62120	AAT		0.323	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	NM_018471		12	18	0	0	0	1	0	12	18				
ABL2	27	broad.mit.edu	37	1	179077872	179077872	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr1:179077872T>A	ENST00000502732.1	-	12	2733	c.2530A>T	c.(2530-2532)Agc>Tgc	p.S844C	ABL2_ENST00000507173.1_Missense_Mutation_p.S720C|ABL2_ENST00000408940.3_Missense_Mutation_p.S808C|ABL2_ENST00000511413.1_Missense_Mutation_p.S741C|ABL2_ENST00000504405.1_Missense_Mutation_p.S705C|ABL2_ENST00000367623.4_Missense_Mutation_p.S823C|ABL2_ENST00000344730.3_Missense_Mutation_p.S726C|ABL2_ENST00000512653.1_Missense_Mutation_p.S829C	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	844	F-actin-binding. {ECO:0000250}.|Pro-rich.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CTCTCCCTGCTTGGAGCAGCA	0.522			T	ETV6	AML																																	ENST00000502732.1				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(2530-2532)Agc>Tgc		c-abl oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						88.0	89.0	89.0					1																	179077872		2203	4300	6503	SO:0001583	missense	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179077872T>A	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.2530A>T	1.37:g.179077872T>A	ENSP00000427562:p.Ser844Cys					ABL2_ENST00000504405.1_Missense_Mutation_p.S705C|ABL2_ENST00000408940.3_Missense_Mutation_p.S808C|ABL2_ENST00000512653.1_Missense_Mutation_p.S829C|ABL2_ENST00000367623.4_Missense_Mutation_p.S823C|ABL2_ENST00000344730.3_Missense_Mutation_p.S726C|ABL2_ENST00000511413.1_Missense_Mutation_p.S741C|ABL2_ENST00000507173.1_Missense_Mutation_p.S720C	p.S844C	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN			12	2733	-			844			F-actin-binding (By similarity).|Pro-rich.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.2530A>T	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	T	11.51	1.661702	0.29515	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413	T;T;T;T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46	4.92	-9.09	0.00717	.	1.506800	0.04303	N	0.347599	T	0.08626	0.0214	N	0.08118	0	0.09310	N	0.999995	B;B;B;B;B;B;B;B	0.32939	0.199;0.216;0.071;0.25;0.126;0.199;0.391;0.25	B;B;B;B;B;B;B;B	0.39379	0.133;0.117;0.117;0.298;0.063;0.229;0.155;0.194	T	0.40384	-0.9566	10	0.56958	D	0.05	.	5.1184	0.14847	0.1917:0.49:0.1074:0.211	.	823;720;741;705;844;829;808;726	P42684-6;P42684-7;P42684-5;P42684-4;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;ABL2_HUMAN;.;.;.	C	844;808;726;829;705;823;720;741	ENSP00000427562:S844C;ENSP00000386152:S808C;ENSP00000339209:S726C;ENSP00000423578:S829C;ENSP00000426831:S705C;ENSP00000356595:S823C;ENSP00000423413:S720C;ENSP00000424697:S741C	ENSP00000339209:S726C	S	-	1	0	ABL2	177344495	0.946000	0.32159	0.498000	0.27564	0.935000	0.57460	0.035000	0.13797	-1.388000	0.02092	-0.496000	0.04628	AGC		0.522	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		53	57	0	0	0	1	0	53	57				
OR2AG2	338755	broad.mit.edu	37	11	6789862	6789862	+	Silent	SNP	G	G	A	rs145583606	byFrequency	TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr11:6789862G>A	ENST00000338569.2	-	1	424	c.327C>T	c.(325-327)agC>agT	p.S109S		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S109S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGTCCTCAGCGCTACCCATTG	0.522													A|||	6	0.00119808	0.0	0.0	5008	,	,		21854	0.006		0.0	False		,,,				2504	0.0					ENST00000338569.2																			1	Substitution - coding silent(1)	p.S109S(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28						c.(325-327)agC>agT		olfactory receptor, family 2, subfamily AG, member 2		A		0,4402		0,0,2201	92.0	79.0	83.0		327	-0.5	0.1	11	dbSNP_134	83	1,8591		0,1,4295	no	coding-synonymous	OR2AG2	NM_001004490.1		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		109/317	6789862	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	338755				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6789862G>A	AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"""GPCR / Class A : Olfactory receptors"""	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.327C>T	11.37:g.6789862G>A							p.S109S	NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	424	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	109						Silent	SNP	ENST00000338569.2	37	c.327C>T	CCDS31413.1																																																																																				0.522	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		18	43	0	0	0	1	0	18	43				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																						ENST00000565869.1																			0																																																			645752							g.chr15:78211548T>C																													15.37:g.78211548T>C						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	125	0	0	0	1	0	4	125				
MTRR	4552	broad.mit.edu	37	5	7892899	7892899	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr5:7892899C>G	ENST00000264668.2	+	11	1541	c.1511C>G	c.(1510-1512)tCt>tGt	p.S504C	MTRR_ENST00000440940.2_Missense_Mutation_p.S477C	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	504	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|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)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)	p.S504F(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	GAATTTCTGTCTACTGCCACA	0.438																																						ENST00000264668.2																			1	Substitution - Missense(1)	p.S504F(1)	prostate(1)	NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31						c.(1510-1512)tCt>tGt		5-methyltetrahydrofolate-homocysteine methyltransferase reductase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						182.0	159.0	167.0					5																	7892899		2203	4300	6503	SO:0001583	missense	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7892899C>G	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.1511C>G	5.37:g.7892899C>G	ENSP00000264668:p.Ser504Cys					MTRR_ENST00000440940.2_Missense_Mutation_p.S477C	p.S504C	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN			11	1541	+			504			FAD-binding FR-type.		O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	c.1511C>G	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485195	0.63962	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	T;T	0.66995	-0.24;-0.24	4.77	4.77	0.60923	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.289399	0.38663	N	0.001620	T	0.76593	0.4009	L	0.55743	1.74	0.80722	D	1	D	0.76494	0.999	D	0.65443	0.935	T	0.78445	-0.2201	10	0.56958	D	0.05	-3.5676	14.9693	0.71220	0.0:1.0:0.0:0.0	.	504	Q9UBK8	MTRR_HUMAN	C	504;477	ENSP00000264668:S504C;ENSP00000402510:S477C	ENSP00000264668:S504C	S	+	2	0	MTRR	7945899	0.827000	0.29292	0.010000	0.14722	0.029000	0.11900	3.520000	0.53465	2.190000	0.69967	0.655000	0.94253	TCT		0.438	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			5	132	0	0	0	1	0	5	132				
ADAM21P1	145241	broad.mit.edu	37	14	70713010	70713010	+	RNA	SNP	T	T	C	rs538523566		TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr14:70713010T>C	ENST00000530196.1	-	0	1508					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		ATGGCATGAATTTGCAGTCTT	0.478													t|||	1	0.000199681	0.0	0.0	5008	,	,		23277	0.0		0.0	False		,,,				2504	0.001					ENST00000530196.1																			0																																																			145241							g.chr14:70713010T>C			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713010T>C								NR_003951.1						0	1508	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.478	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		8	48	0	0	0	1	0	8	48				
DHX36	170506	broad.mit.edu	37	3	154022739	154022739	+	Missense_Mutation	SNP	T	T	A	rs371491624		TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr3:154022739T>A	ENST00000496811.1	-	8	1071	c.991A>T	c.(991-993)Atc>Ttc	p.I331F	DHX36_ENST00000329463.5_Missense_Mutation_p.I331F|DHX36_ENST00000308361.6_Missense_Mutation_p.I331F|DHX36_ENST00000544526.1_Missense_Mutation_p.I331F	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	331	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCAAGTACGATATGACTAACA	0.294																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(991-993)Atc>Ttc		DEAH (Asp-Glu-Ala-His) box polypeptide 36							47.0	48.0	47.0					3																	154022739		2203	4297	6500	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154022739T>A	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.991A>T	3.37:g.154022739T>A	ENSP00000417078:p.Ile331Phe					DHX36_ENST00000308361.6_Missense_Mutation_p.I331F|DHX36_ENST00000329463.5_Missense_Mutation_p.I331F|DHX36_ENST00000544526.1_Missense_Mutation_p.I331F	p.I331F	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		8	1071	-			331			Helicase ATP-binding.		B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.991A>T	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.629162	0.67015	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	5.9	3.57	0.40892	DEAD-like helicase (2);DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.261155	0.38778	N	0.001566	T	0.36908	0.0984	M	0.92649	3.33	0.43913	D	0.996556	P;P;P	0.44877	0.745;0.845;0.785	P;P;P	0.45794	0.462;0.462;0.493	T	0.38628	-0.9652	10	0.87932	D	0	.	7.1913	0.25826	0.0:0.2981:0.0:0.7019	.	331;331;331	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	F	331;331;331;331;245	ENSP00000417078:I331F;ENSP00000309296:I331F;ENSP00000444247:I331F;ENSP00000330113:I331F;ENSP00000419862:I245F	ENSP00000309296:I331F	I	-	1	0	DHX36	155505433	0.891000	0.30450	0.939000	0.37840	0.931000	0.56810	1.089000	0.30890	1.072000	0.40860	0.533000	0.62120	ATC		0.294	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		18	18	0	0	0	1	0	18	18				
PAQR7	164091	broad.mit.edu	37	1	26189386	26189386	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr1:26189386A>C	ENST00000374296.3	-	2	1611	c.945T>G	c.(943-945)ttT>ttG	p.F315L	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	315					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGGCCAGAAAAGTTGTGAG	0.592																																					Esophageal Squamous(111;1206 1556 18433 19151 38418)	ENST00000374296.3																			0				breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(943-945)ttT>ttG		progestin and adipoQ receptor family member VII							79.0	79.0	79.0					1																	26189386		2203	4300	6503	SO:0001583	missense	164091				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr1:26189386A>C		CCDS267.1	1p35.3	2012-08-10			ENSG00000182749	ENSG00000182749			23146	protein-coding gene	gene with protein product	"""membrane progestin receptor alpha"""	607779					Standard	NM_178422		Approved	mSR, MPRA	uc001bkx.3	Q86WK9	OTTHUMG00000007373	ENST00000374296.3:c.945T>G	1.37:g.26189386A>C	ENSP00000363414:p.Phe315Leu					RP1-125I3.2_ENST00000455431.1_RNA	p.F315L	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)	2	1611	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	315					A2A2D3|Q5XKF9|Q86VE4	Missense_Mutation	SNP	ENST00000374296.3	37	c.945T>G	CCDS267.1	.	.	.	.	.	.	.	.	.	.	A	10.67	1.415722	0.25552	.	.	ENSG00000182749	ENST00000374296	T	0.20738	2.05	4.81	2.84	0.33178	.	0.131595	0.52532	D	0.000068	T	0.11537	0.0281	N	0.24115	0.695	0.32818	D	0.502307	P	0.43788	0.817	B	0.39339	0.297	T	0.18429	-1.0337	10	0.12766	T	0.61	-20.5296	9.0095	0.36133	0.1758:0.0:0.8242:0.0	.	315	Q86WK9	MPRA_HUMAN	L	315	ENSP00000363414:F315L	ENSP00000363414:F315L	F	-	3	2	PAQR7	26061973	1.000000	0.71417	0.761000	0.31378	0.158000	0.22134	2.661000	0.46758	0.608000	0.30000	-0.313000	0.08912	TTT		0.592	PAQR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019312.1	NM_178422		35	63	0	0	0	1	0	35	63				
FAM21C	253725	broad.mit.edu	37	10	46250521	46250521	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr10:46250521G>A	ENST00000336378.4	+	15	1496	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N	FAM21C_ENST00000374362.2_Missense_Mutation_p.D460N|FAM21C_ENST00000540872.1_Missense_Mutation_p.D460N|FAM21C_ENST00000359860.4_Missense_Mutation_p.D404N|FAM21C_ENST00000537517.1_Missense_Mutation_p.D436N	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	460	Poly-Asp.				retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						tgatgatgatgacgaCTTTTT	0.498																																						ENST00000336378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1378-1380)Gac>Aac		family with sequence similarity 21, member C							32.0	36.0	35.0					10																	46250521		1859	4099	5958	SO:0001583	missense	253725							g.chr10:46250521G>A		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1378G>A	10.37:g.46250521G>A	ENSP00000337541:p.Asp460Asn					FAM21C_ENST00000537517.1_Missense_Mutation_p.D436N|FAM21C_ENST00000540872.1_Missense_Mutation_p.D460N|FAM21C_ENST00000359860.4_Missense_Mutation_p.D404N|FAM21C_ENST00000374362.2_Missense_Mutation_p.D460N	p.D460N	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN			15	1496	+			460					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37	c.1378G>A		.	.	.	.	.	.	.	.	.	.	G	6.200	0.405024	0.11754	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.18	2.24	0.28232	.	0.055857	0.64402	D	0.000002	T	0.55114	0.1900	L	0.60845	1.875	0.32349	N	0.558698	B;D;D;D	0.76494	0.021;0.999;0.999;0.993	B;D;D;D	0.70227	0.027;0.968;0.968;0.951	T	0.58624	-0.7604	9	0.27785	T	0.31	-6.9624	5.4316	0.16456	0.1683:0.0:0.8317:0.0	.	436;460;460;405	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	N	460;460;436;460;460;404;372	.	ENSP00000337541:D460N	D	+	1	0	FAM21C	45570527	0.854000	0.29725	0.143000	0.22291	0.412000	0.31113	2.952000	0.49097	0.637000	0.30526	0.603000	0.83216	GAC		0.498	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				3	18	0	0	0	1	0	3	18				
ACTR1A	10121	broad.mit.edu	37	10	104250323	104250323	+	Silent	SNP	T	T	C			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr10:104250323T>C	ENST00000369905.4	-	2	159	c.96A>G	c.(94-96)aaA>aaG	p.K32K	ACTR1A_ENST00000487599.1_Silent_p.K32K|ACTR1A_ENST00000446605.2_Intron|ACTR1A_ENST00000545684.1_5'UTR	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	32					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|microtubule associated complex (GO:0005875)	ATP binding (GO:0005524)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GAAAGCAGTATTTGGGGATCT	0.458																																						ENST00000369905.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13						c.(94-96)aaA>aaG		ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)							91.0	83.0	86.0					10																	104250323		2203	4300	6503	SO:0001819	synonymous_variant	10121				G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding	g.chr10:104250323T>C	X82206	CCDS7536.1	10q24	2008-07-08	2001-11-28		ENSG00000138107	ENSG00000138107			167	protein-coding gene	gene with protein product		605143	"""ARP1 (actin-related protein 1, yeast) homolog A (centractin alpha)"""			1528266	Standard	NM_005736		Approved	ARP1	uc001kvv.3	P61163	OTTHUMG00000018956	ENST00000369905.4:c.96A>G	10.37:g.104250323T>C						ACTR1A_ENST00000446605.2_Intron|ACTR1A_ENST00000545684.1_5'UTR|ACTR1A_ENST00000487599.1_Silent_p.K32K	p.K32K	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)	2	159	-		Colorectal(252;0.122)	32					B2R6B0|P42024	Silent	SNP	ENST00000369905.4	37	c.96A>G	CCDS7536.1																																																																																				0.458	ACTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050053.1			15	41	0	0	0	1	0	15	41				
ZBED1	9189	broad.mit.edu	37	X	2408368	2408368	+	Silent	SNP	C	C	T			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chrX:2408368C>T	ENST00000381223.4	-	2	596	c.393G>A	c.(391-393)ctG>ctA	p.L131L	ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381222.2_Silent_p.L131L|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Silent_p.L131L	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	131					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGATGAGGCCCAGCACGGCGG	0.697																																						ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(391-393)ctG>ctA		zinc finger, BED-type containing 1							48.0	51.0	50.0					X																	2408368		2203	4296	6499	SO:0001819	synonymous_variant	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2408368C>T	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.393G>A	X.37:g.2408368C>T						ZBED1_ENST00000381218.3_Silent_p.L131L|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Silent_p.L131L	p.L131L	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	596	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	131					Q96BY4	Silent	SNP	ENST00000381223.4	37	c.393G>A	CCDS14118.1																																																																																				0.697	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		39	19	0	0	0	1	0	39	19				
PREX2	80243	broad.mit.edu	37	8	68999986	68999986	+	Silent	SNP	T	T	C			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr8:68999986T>C	ENST00000288368.4	+	19	2332	c.2055T>C	c.(2053-2055)gaT>gaC	p.D685D	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	685	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATTCAGCTGATGGACTTGGCT	0.438																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(2053-2055)gaT>gaC		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							200.0	188.0	192.0					8																	68999986		2203	4300	6503	SO:0001819	synonymous_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68999986T>C	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2055T>C	8.37:g.68999986T>C						PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	p.D685D	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			19	2332	+			685			PDZ 2.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	c.2055T>C	CCDS6201.1																																																																																				0.438	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		52	110	0	0	0	1	0	52	110				
DGCR14	8220	broad.mit.edu	37	22	19127410	19127410	+	Silent	SNP	T	T	C			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr22:19127410T>C	ENST00000252137.6	-	4	571	c.528A>G	c.(526-528)gcA>gcG	p.A176A		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	176					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					AAGCGTGGCGTGCCCGGCTTC	0.602																																						ENST00000252137.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16						c.(526-528)gcA>gcG		DiGeorge syndrome critical region gene 14							151.0	145.0	147.0					22																	19127410		2203	4300	6503	SO:0001819	synonymous_variant	8220				nervous system development	catalytic step 2 spliceosome		g.chr22:19127410T>C	L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.528A>G	22.37:g.19127410T>C							p.A176A	NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN			4	571	-	Colorectal(54;0.0993)		176					Q49AH7|Q9BTZ4	Silent	SNP	ENST00000252137.6	37	c.528A>G	CCDS13756.1																																																																																				0.602	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2			83	123	0	0	0	1	0	83	123				
SCAP	22937	broad.mit.edu	37	3	47455799	47455799	+	Silent	SNP	A	A	G			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr3:47455799A>G	ENST00000265565.5	-	22	3877	c.3465T>C	c.(3463-3465)caT>caC	p.H1155H	SCAP_ENST00000545718.1_Silent_p.H762H|SCAP_ENST00000441517.2_Silent_p.H899H	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1155	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GAGCAAACACATGGCTGACCC	0.602																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(3463-3465)caT>caC		SREBF chaperone							93.0	79.0	84.0					3																	47455799		2203	4300	6503	SO:0001819	synonymous_variant	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47455799A>G	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.3465T>C	3.37:g.47455799A>G						SCAP_ENST00000441517.2_Silent_p.H899H|SCAP_ENST00000545718.1_Silent_p.H762H	p.H1155H	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	22	3877	-			1155			Interaction with SREBF2 (By similarity).		Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	37	c.3465T>C	CCDS2755.2																																																																																				0.602	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		34	13	0	0	0	1	0	34	13				
KRTAP15-1	254950	broad.mit.edu	37	21	31812774	31812774	+	Silent	SNP	G	G	T			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr21:31812774G>T	ENST00000334067.3	+	1	178	c.129G>T	c.(127-129)ctG>ctT	p.L43L		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	43			L -> M (in dbSNP:rs2832873). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.			intermediate filament (GO:0005882)		p.L43L(1)		kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						CCTGCCAACTGGGCTCCTCTC	0.488																																						ENST00000334067.3																			1	Substitution - coding silent(1)	p.L43L(1)	large_intestine(1)	kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						c.(127-129)ctG>ctT		keratin associated protein 15-1							86.0	86.0	86.0					21																	31812774		2203	4300	6503	SO:0001819	synonymous_variant	254950					intermediate filament		g.chr21:31812774G>T	AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"""Keratin associated proteins"""	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.129G>T	21.37:g.31812774G>T							p.L43L	NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN			1	178	+			43		L -> M (in dbSNP:rs2832873).			Q2M3F4	Silent	SNP	ENST00000334067.3	37	c.129G>T	CCDS13593.1																																																																																				0.488	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128236.1			38	34	1	0	1.57351e-24	1	1.79347e-24	38	34				
OR5AS1	219447	broad.mit.edu	37	11	55798145	55798145	+	Missense_Mutation	SNP	A	A	T	rs202043963		TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr11:55798145A>T	ENST00000313555.1	+	1	251	c.251A>T	c.(250-252)aAc>aTc	p.N84I		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ATGCTGGCAAACTTCTTGGCA	0.398																																						ENST00000313555.1																			0				endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(250-252)aAc>aTc		olfactory receptor, family 5, subfamily AS, member 1							83.0	74.0	77.0					11																	55798145		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798145A>T	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.251A>T	11.37:g.55798145A>T	ENSP00000324111:p.Asn84Ile						p.N84I	NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN			1	251	+	Esophageal squamous(21;0.00693)		84					Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.251A>T	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	A	14.81	2.645602	0.47258	.	.	ENSG00000181785	ENST00000313555	T	0.00473	7.18	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.434137	0.16737	U	0.201581	T	0.00637	0.0021	L	0.39326	1.205	0.09310	N	1	D	0.57899	0.981	P	0.52267	0.694	T	0.61337	-0.7083	10	0.66056	D	0.02	.	11.9038	0.52699	1.0:0.0:0.0:0.0	.	84	Q8N127	O5AS1_HUMAN	I	84	ENSP00000324111:N84I	ENSP00000324111:N84I	N	+	2	0	OR5AS1	55554721	0.000000	0.05858	0.779000	0.31741	0.712000	0.41017	0.726000	0.25984	2.067000	0.61834	0.523000	0.50628	AAC		0.398	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		15	18	0	0	0	1	0	15	18				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			220729							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	172	0	0	0	1	0	4	172				
USP3	9960	broad.mit.edu	37	15	63866570	63866570	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr15:63866570A>T	ENST00000380324.3	+	11	1193	c.1064A>T	c.(1063-1065)aAt>aTt	p.N355I	USP3_ENST00000268049.7_Missense_Mutation_p.N333I|USP3_ENST00000536001.1_3'UTR|USP3-AS1_ENST00000560350.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000539772.1_Missense_Mutation_p.N106I|USP3_ENST00000540797.1_Missense_Mutation_p.N311I|USP3_ENST00000559711.1_Missense_Mutation_p.N266I|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000558285.1_Missense_Mutation_p.N338I	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	355	USP.				DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		CGCTCTAAGAATCAAGAAAAT	0.323																																						ENST00000268049.7																			0				endometrium(3)|large_intestine(7)|lung(4)	14						c.(997-999)aAt>aTt		ubiquitin specific peptidase 3							101.0	99.0	100.0					15																	63866570		2203	4300	6503	SO:0001583	missense	9960				DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr15:63866570A>T	AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"""Ubiquitin-specific peptidases"""	12626	protein-coding gene	gene with protein product		604728	"""ubiquitin specific protease 3"""			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.1064A>T	15.37:g.63866570A>T	ENSP00000369681:p.Asn355Ile					USP3_ENST00000558285.1_Missense_Mutation_p.N338I|USP3_ENST00000539772.1_Missense_Mutation_p.N106I|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000380324.3_Missense_Mutation_p.N355I|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000559711.1_Missense_Mutation_p.N266I|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000540797.1_Missense_Mutation_p.N311I|USP3_ENST00000536001.1_3'UTR	p.N333I			Q9Y6I4	UBP3_HUMAN		GBM - Glioblastoma multiforme(80;0.0187)	12	1322	+			355					B4DVU5|F5H1A6|Q8WVD0	Missense_Mutation	SNP	ENST00000380324.3	37	c.998A>T	CCDS32265.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.011886	0.93346	.	.	ENSG00000140455	ENST00000540797;ENST00000380324;ENST00000268049;ENST00000539772;ENST00000536848;ENST00000538686	T;T;T;T	0.32753	1.94;2.03;2.13;1.44	5.98	5.98	0.97165	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.040122	0.85682	D	0.000000	T	0.41282	0.1152	L	0.39245	1.2	0.58432	D	0.999995	P;P;D;D	0.55800	0.875;0.942;0.973;0.973	B;P;P;P	0.54815	0.446;0.581;0.761;0.683	T	0.12889	-1.0530	10	0.48119	T	0.1	.	16.4696	0.84102	1.0:0.0:0.0:0.0	.	311;311;333;355	F5H1A6;B4DVU5;Q6JHV3;Q9Y6I4	.;.;.;UBP3_HUMAN	I	311;355;333;106;270;186	ENSP00000445828:N311I;ENSP00000369681:N355I;ENSP00000268049:N333I;ENSP00000445642:N106I	ENSP00000268049:N333I	N	+	2	0	USP3	61653623	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.289000	0.77006	0.482000	0.46254	AAT		0.323	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1			15	29	0	0	0	1	0	15	29				
MLLT3	4300	broad.mit.edu	37	9	20414373	20414373	+	Silent	SNP	G	G	A			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr9:20414373G>A	ENST00000380338.4	-	5	757	c.471C>T	c.(469-471)agC>agT	p.S157S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	157	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S157S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S157S(5)	endometrium(3)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(469-471)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	14.0	12.0					9																	20414373		1757	3647	5404	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414373G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.471C>T	9.37:g.20414373G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000355930.6_5'UTR	p.S157S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	757	-			157			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.471C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		3	27	0	0	0	1	0	3	27				
AMER3	205147	broad.mit.edu	37	2	131519912	131519912	+	Silent	SNP	G	G	A			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr2:131519912G>A	ENST00000423981.1	+	2	377	c.267G>A	c.(265-267)gtG>gtA	p.V89V	AMER3_ENST00000321420.4_Silent_p.V89V	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	89					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										TCAAACCGGTGCGAAAGTGCA	0.662																																						ENST00000423981.1																			0											c.(265-267)gtG>gtA		APC membrane recruitment protein 3							16.0	22.0	20.0					2																	131519912		2200	4297	6497	SO:0001819	synonymous_variant	205147							g.chr2:131519912G>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.267G>A	2.37:g.131519912G>A						AMER3_ENST00000321420.4_Silent_p.V89V	p.V89V	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	377	+								B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.267G>A	CCDS2164.1																																																																																				0.662	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		8	19	0	0	0	1	0	8	19				
BMP2	650	broad.mit.edu	37	20	6751021	6751021	+	Missense_Mutation	SNP	A	A	G	rs79417223		TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr20:6751021A>G	ENST00000378827.4	+	2	1467	c.248A>G	c.(247-249)tAt>tGt	p.Y83C		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	83					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						CTAGACCTGTATCGCAGGCAC	0.647																																						ENST00000378827.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						c.(247-249)tAt>tGt		bone morphogenetic protein 2	Simvastatin(DB00641)						24.0	26.0	25.0					20																	6751021		2201	4297	6498	SO:0001583	missense	650				BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding	g.chr20:6751021A>G		CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.248A>G	20.37:g.6751021A>G	ENSP00000368104:p.Tyr83Cys						p.Y83C	NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN			2	1467	+			83						Missense_Mutation	SNP	ENST00000378827.4	37	c.248A>G	CCDS13099.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.010111	0.75046	.	.	ENSG00000125845	ENST00000378827	D	0.86956	-2.19	5.14	5.14	0.70334	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95245	0.8458	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96554	0.9410	10	0.87932	D	0	.	15.2679	0.73678	1.0:0.0:0.0:0.0	.	83	P12643	BMP2_HUMAN	C	83	ENSP00000368104:Y83C	ENSP00000368104:Y83C	Y	+	2	0	BMP2	6699021	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	7.047000	0.76599	2.047000	0.60756	0.455000	0.32223	TAT		0.647	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077918.3			13	33	0	0	0	1	0	13	33				
TCF20	6942	broad.mit.edu	37	22	42605671	42605671	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr22:42605671T>C	ENST00000359486.3	-	1	5777	c.5641A>G	c.(5641-5643)Ata>Gta	p.I1881V	TCF20_ENST00000404876.1_Missense_Mutation_p.I182V|TCF20_ENST00000335626.4_Missense_Mutation_p.I1881V	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1881					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCTCTGGCTATTTCCAGCGCT	0.433																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(5641-5643)Ata>Gta		transcription factor 20 (AR1)							89.0	96.0	93.0					22																	42605671		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42605671T>C	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5641A>G	22.37:g.42605671T>C	ENSP00000352463:p.Ile1881Val					TCF20_ENST00000335626.4_Missense_Mutation_p.I1881V|TCF20_ENST00000404876.1_Missense_Mutation_p.I182V	p.I1881V	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	5777	-			1881					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.5641A>G	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	T	0.342	-0.949645	0.02304	.	.	ENSG00000100207	ENST00000359486;ENST00000335626;ENST00000404876	T;T;T	0.70399	-0.48;-0.48;-0.48	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.61714	0.2369	N	0.11560	0.145	0.38498	D	0.948151	P;P	0.45212	0.823;0.853	P;P	0.50617	0.646;0.584	T	0.61623	-0.7025	10	0.12430	T	0.62	-7.5838	16.4504	0.83984	0.0:0.0:0.0:1.0	.	1881;1881	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	V	1881;1881;182	ENSP00000352463:I1881V;ENSP00000335561:I1881V;ENSP00000385531:I182V	ENSP00000335561:I1881V	I	-	1	0	TCF20	40935615	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.694000	0.61760	2.288000	0.76882	0.533000	0.62120	ATA		0.433	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		72	99	0	0	0	1	0	72	99				
FAM21C	253725	broad.mit.edu	37	10	46250493	46250493	+	Silent	SNP	C	C	G	rs5029704	byFrequency	TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr10:46250493C>G	ENST00000336378.4	+	15	1468	c.1350C>G	c.(1348-1350)ctC>ctG	p.L450L	FAM21C_ENST00000374362.2_Silent_p.L450L|FAM21C_ENST00000540872.1_Silent_p.L450L|FAM21C_ENST00000359860.4_Silent_p.L394L|FAM21C_ENST00000537517.1_Silent_p.L426L	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	450					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CCACTGGCCTCTTtgatgatg	0.522													.|||	2	0.000399361	0.0	0.0014	5008	,	,		15679	0.0		0.0	False		,,,				2504	0.001					ENST00000336378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1348-1350)ctC>ctG		family with sequence similarity 21, member C							20.0	22.0	22.0					10																	46250493		1804	4054	5858	SO:0001819	synonymous_variant	253725							g.chr10:46250493C>G		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1350C>G	10.37:g.46250493C>G						FAM21C_ENST00000537517.1_Silent_p.L426L|FAM21C_ENST00000540872.1_Silent_p.L450L|FAM21C_ENST00000359860.4_Silent_p.L394L|FAM21C_ENST00000374362.2_Silent_p.L450L	p.L450L	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN			15	1468	+			450					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Silent	SNP	ENST00000336378.4	37	c.1350C>G																																																																																					0.522	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				8	25	0	0	0	1	0	8	25				
SMCHD1	23347	broad.mit.edu	37	18	2732289	2732289	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr18:2732289G>T	ENST00000320876.6	+	25	3413	c.3075G>T	c.(3073-3075)gaG>gaT	p.E1025D	SMCHD1_ENST00000261598.8_Missense_Mutation_p.E1025D|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1025					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CACCTGTGGAGAAGACTATTA	0.373																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(3073-3075)gaG>gaT		structural maintenance of chromosomes flexible hinge domain containing 1							146.0	131.0	136.0					18																	2732289		1858	4103	5961	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2732289G>T	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3075G>T	18.37:g.2732289G>T	ENSP00000326603:p.Glu1025Asp					SMCHD1_ENST00000261598.8_Missense_Mutation_p.E1025D|RP11-703M24.5_ENST00000583546.1_RNA	p.E1025D	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			25	3413	+			1025					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.3075G>T	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936301	0.52972	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.27557	1.66;1.67	5.27	0.699	0.18093	.	0.136731	0.47852	D	0.000206	T	0.45776	0.1359	L	0.59436	1.845	0.29281	N	0.870049	D	0.69078	0.997	D	0.72625	0.978	T	0.41680	-0.9495	10	0.66056	D	0.02	-18.207	10.0154	0.42011	0.508:0.0:0.492:0.0	.	1025	A6NHR9	SMHD1_HUMAN	D	1025	ENSP00000326603:E1025D;ENSP00000261598:E1025D	ENSP00000261598:E1025D	E	+	3	2	SMCHD1	2722289	0.979000	0.34478	0.998000	0.56505	0.998000	0.95712	0.080000	0.14802	0.056000	0.16144	0.655000	0.94253	GAG		0.373	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			28	49	1	0	1.32003e-05	1	1.42779e-05	28	49				
KIF15	56992	broad.mit.edu	37	3	44856411	44856411	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr3:44856411A>G	ENST00000326047.4	+	20	2541	c.2392A>G	c.(2392-2394)Agt>Ggt	p.S798G	KIF15_ENST00000425755.1_Missense_Mutation_p.S433G	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	798					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AGTTTTGAAAAGTGAGGTACA	0.353																																						ENST00000326047.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.(2392-2394)Agt>Ggt		kinesin family member 15							91.0	91.0	91.0					3																	44856411		2203	4300	6503	SO:0001583	missense	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44856411A>G	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.2392A>G	3.37:g.44856411A>G	ENSP00000324020:p.Ser798Gly					KIF15_ENST00000425755.1_Missense_Mutation_p.S433G	p.S798G	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	20	2541	+			798					Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	c.2392A>G	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	A	10.67	1.415492	0.25552	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031;ENST00000425755	T;T;T	0.55052	0.54;0.54;0.54	5.46	4.27	0.50696	.	0.098590	0.44688	D	0.000422	T	0.46560	0.1399	L	0.53249	1.67	0.32078	N	0.593584	B	0.18310	0.027	B	0.16289	0.015	T	0.52510	-0.8566	10	0.36615	T	0.2	.	11.33	0.49470	0.8595:0.0:0.0:0.1405	.	798	Q9NS87	KIF15_HUMAN	G	798;570;797;433	ENSP00000324020:S798G;ENSP00000425499:S570G;ENSP00000389982:S433G	ENSP00000324020:S798G	S	+	1	0	KIF15	44831415	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.533000	0.67160	0.968000	0.38212	0.482000	0.46254	AGT		0.353	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			30	11	0	0	0	1	0	30	11				
PLEKHG7	440107	broad.mit.edu	37	12	93150134	93150134	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr12:93150134C>G	ENST00000344636.3	+	8	851	c.667C>G	c.(667-669)Cac>Gac	p.H223D		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	223	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						AACCAGCAGACACCTTCTCTA	0.368																																						ENST00000344636.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						c.(667-669)Cac>Gac		pleckstrin homology domain containing, family G (with RhoGef domain) member 7							91.0	91.0	91.0					12																	93150134		2203	4300	6503	SO:0001583	missense	440107				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr12:93150134C>G	AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"""Pleckstrin homology (PH) domain containing"""	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.667C>G	12.37:g.93150134C>G	ENSP00000344961:p.His223Asp						p.H223D	NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN			8	851	+			223			PH.		B2RNR7	Missense_Mutation	SNP	ENST00000344636.3	37	c.667C>G	CCDS31873.1	.	.	.	.	.	.	.	.	.	.	C	6.157	0.397226	0.11638	.	.	ENSG00000187510	ENST00000344636	T	0.62639	0.01	4.92	4.0	0.46444	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.201503	0.52532	D	0.000078	T	0.42675	0.1213	N	0.22421	0.69	0.22851	N	0.998659	B	0.02656	0.0	B	0.06405	0.002	T	0.29088	-1.0023	10	0.48119	T	0.1	-21.1837	4.5689	0.12200	0.1593:0.6031:0.1542:0.0835	.	223	Q6ZR37	PKHG7_HUMAN	D	223	ENSP00000344961:H223D	ENSP00000344961:H223D	H	+	1	0	PLEKHG7	91674265	0.655000	0.27376	1.000000	0.80357	0.985000	0.73830	0.164000	0.16542	0.998000	0.38996	0.555000	0.69702	CAC		0.368	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407288.1	NM_001004330		13	47	0	0	0	1	0	13	47				
FRMD4A	55691	broad.mit.edu	37	10	13701485	13701485	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr10:13701485T>C	ENST00000357447.2	-	21	2272	c.1904A>G	c.(1903-1905)cAc>cGc	p.H635R	FRMD4A_ENST00000358621.4_Missense_Mutation_p.H620R|FRMD4A_ENST00000378503.1_Missense_Mutation_p.H635R	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	635	Ser-rich.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GAAGCGCTTGTGGCTGCTGCA	0.632																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(1903-1905)cAc>cGc		FERM domain containing 4A							36.0	37.0	37.0					10																	13701485		2202	4300	6502	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13701485T>C	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1904A>G	10.37:g.13701485T>C	ENSP00000350032:p.His635Arg					FRMD4A_ENST00000358621.4_Missense_Mutation_p.H620R|FRMD4A_ENST00000378503.1_Missense_Mutation_p.H635R	p.H635R	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			21	2272	-			635			Ser-rich.		A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.1904A>G	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.337262	0.60963	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.82984	-1.67;-1.67;-1.67	5.74	5.74	0.90152	.	0.048132	0.85682	N	0.000000	T	0.69070	0.3070	N	0.04203	-0.255	0.80722	D	1	B	0.21520	0.057	B	0.19946	0.027	T	0.67968	-0.5533	10	0.72032	D	0.01	-30.2687	16.042	0.80691	0.0:0.0:0.0:1.0	.	635	Q9P2Q2	FRM4A_HUMAN	R	620;635;635	ENSP00000351438:H620R;ENSP00000350032:H635R;ENSP00000367764:H635R	ENSP00000350032:H635R	H	-	2	0	FRMD4A	13741491	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.186000	0.72026	2.188000	0.69820	0.459000	0.35465	CAC		0.632	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		17	58	0	0	0	1	0	17	58				
SPEG	10290	broad.mit.edu	37	2	220354174	220354174	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr2:220354174C>A	ENST00000312358.7	+	36	8566	c.8434C>A	c.(8434-8436)Ccc>Acc	p.P2812T	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2812	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCCTGCTGCCCCCACACCCCC	0.672																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(8434-8436)Ccc>Acc		SPEG complex locus							29.0	32.0	31.0					2																	220354174		1884	4089	5973	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220354174C>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8434C>A	2.37:g.220354174C>A	ENSP00000311684:p.Pro2812Thr					AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	p.P2812T	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	36	8566	+		Renal(207;0.0183)	2812			Pro-rich.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.8434C>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	0.059	-1.228084	0.01518	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.66280	-0.2	4.3	0.072	0.14385	.	1.026460	0.07818	N	0.959271	T	0.46308	0.1386	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27905	-1.0060	10	0.28530	T	0.3	.	5.4205	0.16398	0.1349:0.5286:0.2612:0.0753	.	2812	Q15772	SPEG_HUMAN	T	2812	ENSP00000311684:P2812T	ENSP00000265327:P2812T	P	+	1	0	SPEG	220062418	0.000000	0.05858	0.106000	0.21319	0.150000	0.21749	-0.221000	0.09202	0.112000	0.17975	0.456000	0.33151	CCC		0.672	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		59	61	1	0	1.93748e-29	1	2.25684e-29	59	61				
MFSD3	113655	broad.mit.edu	37	8	145734848	145734848	+	Silent	SNP	G	G	A			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr8:145734848G>A	ENST00000301327.4	+	1	392	c.132G>A	c.(130-132)aaG>aaA	p.K44K	RECQL4_ENST00000532237.1_5'Flank	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	44	Leu-rich.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGCTGGCCAAGGTTCTGTACG	0.736																																						ENST00000301327.4																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8						c.(130-132)aaG>aaA		major facilitator superfamily domain containing 3							4.0	3.0	3.0					8																	145734848		1797	3667	5464	SO:0001819	synonymous_variant	113655				transmembrane transport	integral to membrane		g.chr8:145734848G>A		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177	ENST00000301327.4:c.132G>A	8.37:g.145734848G>A							p.K44K	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		1	392	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		44			Leu-rich.			Silent	SNP	ENST00000301327.4	37	c.132G>A	CCDS6431.1																																																																																				0.736	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		3	4	0	0	0	1	0	3	4				
NCOR2	9612	broad.mit.edu	37	12	124859003	124859003	+	Missense_Mutation	SNP	T	T	C	rs376775457		TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr12:124859003T>C	ENST00000405201.1	-	19	2174	c.2174A>G	c.(2173-2175)cAt>cGt	p.H725R	NCOR2_ENST00000404121.2_Intron|NCOR2_ENST00000356219.3_Missense_Mutation_p.H725R|NCOR2_ENST00000397355.1_Intron|NCOR2_ENST00000404621.1_Intron|NCOR2_ENST00000429285.2_Intron			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	725					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)		cccagaggcatgtaaggctgg	0.647																																						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.(2173-2175)cAt>cGt		nuclear receptor corepressor 2		T	ARG/HIS,,	1,4069		0,1,2034	28.0	32.0	31.0		2174,,	1.9	1.0	12		31	0,8344		0,0,4172	no	missense,intron,intron	NCOR2	NM_006312.5,NM_001077261.3,NM_001206654.1	29,,	0,1,6206	CC,CT,TT		0.0,0.0246,0.0081	possibly-damaging,,	725/2515,,	124859003	1,12413	2035	4172	6207	SO:0001583	missense	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.chr12:124859003T>C	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.2174A>G	12.37:g.124859003T>C	ENSP00000384018:p.His725Arg					NCOR2_ENST00000397355.1_Intron|NCOR2_ENST00000404621.1_Intron|NCOR2_ENST00000405201.1_Missense_Mutation_p.H725R|NCOR2_ENST00000429285.2_Intron|NCOR2_ENST00000404121.2_Intron	p.H725R	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)	20	2329	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		725					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.2174A>G	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	T	8.432	0.848903	0.17034	2.46E-4	0.0	ENSG00000196498	ENST00000405201;ENST00000356219;ENST00000447011;ENST00000458234	T;T;T	0.49432	2.33;2.34;0.78	1.87	1.87	0.25490	.	1.559480	0.04002	N	0.296590	T	0.46347	0.1388	N	0.08118	0	0.80722	D	1	P	0.47106	0.89	D	0.64237	0.923	T	0.52997	-0.8500	10	0.25106	T	0.35	-1.1337	7.7263	0.28761	0.0:0.0:0.0:1.0	.	725	C9JFD3	.	R	725	ENSP00000384018:H725R;ENSP00000348551:H725R;ENSP00000402808:H725R	ENSP00000348551:H725R	H	-	2	0	NCOR2	123424956	0.964000	0.33143	0.991000	0.47740	0.988000	0.76386	0.313000	0.19415	1.115000	0.41800	0.459000	0.35465	CAT		0.647	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		18	11	0	0	0	1	0	18	11				
GTF3C3	9330	broad.mit.edu	37	2	197641346	197641346	+	Silent	SNP	T	T	C			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr2:197641346T>C	ENST00000263956.3	-	11	1487	c.1398A>G	c.(1396-1398)ttA>ttG	p.L466L		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	466					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTAAGGCCTTTAAACATTCTA	0.378																																						ENST00000263956.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(1396-1398)ttA>ttG		general transcription factor IIIC, polypeptide 3, 102kDa							64.0	68.0	66.0					2																	197641346		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197641346T>C	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.1398A>G	2.37:g.197641346T>C							p.L466L	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			11	1487	-			466					Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.1398A>G	CCDS2316.1																																																																																				0.378	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			8	75	0	0	0	1	0	8	75				
TMEM132D	121256	broad.mit.edu	37	12	130185052	130185052	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr12:130185052G>A	ENST00000422113.2	-	2	597	c.271C>T	c.(271-273)Cct>Tct	p.P91S	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	91					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.P91S(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTGAGGACAGGCAGCCTCCTG	0.512																																						ENST00000422113.2																			1	Substitution - Missense(1)	p.P91S(1)	large_intestine(1)	NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(271-273)Cct>Tct		transmembrane protein 132D							67.0	65.0	66.0					12																	130185052		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130185052G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.271C>T	12.37:g.130185052G>A	ENSP00000408581:p.Pro91Ser						p.P91S	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	597	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	91					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.271C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105439	0.77096	.	.	ENSG00000151952	ENST00000422113	T	0.13901	2.55	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000014	T	0.46619	0.1402	M	0.88105	2.93	0.54753	D	0.999986	D	0.89917	1.0	D	0.97110	1.0	T	0.53606	-0.8415	9	.	.	.	-31.6898	19.0288	0.92946	0.0:0.0:1.0:0.0	.	91	Q14C87	T132D_HUMAN	S	91	ENSP00000408581:P91S	.	P	-	1	0	TMEM132D	128751005	1.000000	0.71417	0.086000	0.20670	0.622000	0.37654	9.623000	0.98386	2.472000	0.83506	0.555000	0.69702	CCT		0.512	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		17	37	0	0	0	1	0	17	37				
IGKV3D-11	28876	broad.mit.edu	37	2	90212076	90212076	+	RNA	SNP	C	C	A	rs373135775		TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr2:90212076C>A	ENST00000390277.2	+	0	265									immunoglobulin kappa variable 3D-11																		TAGCCTGGTACCAGCAGAAAC	0.597																																						ENST00000390277.2																			0															C		0,3638		0,0,1819	44.0	58.0	54.0			1.0	0.7	2		54	1,8175		0,1,4087	no	intergenic				0,1,5906	AA,AC,CC		0.0122,0.0,0.0085			90212076	1,11813	1819	4088	5907			28876							g.chr2:90212076C>A	X17264		2p11.2	2012-02-08			ENSG00000211632	ENSG00000211632		"""Immunoglobulins / IGK locus"""	5823	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151563		2.37:g.90212076C>A														0	265	+									RNA	SNP	ENST00000390277.2	37																																																																																						0.597	IGKV3D-11-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323138.2	NG_000833		50	99	1	0	2.68985e-26	1	3.09918e-26	50	99				
CYP4A11	1579	broad.mit.edu	37	1	47398680	47398680	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr1:47398680T>C	ENST00000310638.4	-	10	1293	c.1262A>G	c.(1261-1263)aAc>aGc	p.N421S	CYP4A11_ENST00000462347.1_Missense_Mutation_p.N323S|CYP4A11_ENST00000371904.4_Missense_Mutation_p.N422S|CYP4A11_ENST00000496519.1_5'Flank|CYP4A11_ENST00000371905.1_Missense_Mutation_p.N421S	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	421					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	CACTTTTGGGTTGTGGTGAAG	0.517																																						ENST00000310638.4																			0				endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36						c.(1261-1263)aAc>aGc		cytochrome P450, family 4, subfamily A, polypeptide 11	NADH(DB00157)						323.0	308.0	313.0					1																	47398680		2203	4300	6503	SO:0001583	missense	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47398680T>C	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1262A>G	1.37:g.47398680T>C	ENSP00000311095:p.Asn421Ser					CYP4A11_ENST00000475477.1_Intron|CYP4A11_ENST00000371904.4_Missense_Mutation_p.N422S|CYP4A11_ENST00000371905.1_Missense_Mutation_p.N421S	p.N421S	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN			10	1293	-			421					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	c.1262A>G	CCDS543.1	.	.	.	.	.	.	.	.	.	.	a	21.1	4.094872	0.76870	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905	T;T;T	0.69306	-0.39;-0.39;-0.39	5.13	3.98	0.46160	.	0.000000	0.85682	D	0.000000	T	0.75715	0.3887	M	0.67625	2.065	0.80722	D	1	P	0.40000	0.698	P	0.54924	0.764	T	0.76266	-0.3022	10	0.66056	D	0.02	.	11.285	0.49216	0.1369:0.0:0.0:0.8631	.	421	Q02928	CP4AB_HUMAN	S	421;422;421	ENSP00000311095:N421S;ENSP00000360971:N422S;ENSP00000360972:N421S	ENSP00000311095:N421S	N	-	2	0	CYP4A11	47171267	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	5.236000	0.65354	0.882000	0.36016	0.528000	0.53228	AAC		0.517	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		12	391	0	0	0	1	0	12	391				
PDE10A	10846	broad.mit.edu	37	6	165792844	165792844	+	Missense_Mutation	SNP	G	G	C	rs540735117	byFrequency	TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr6:165792844G>C	ENST00000366882.1	-	19	1948	c.1794C>G	c.(1792-1794)caC>caG	p.H598Q	PDE10A_ENST00000539869.2_Missense_Mutation_p.H608Q|PDE10A_ENST00000354448.4_Missense_Mutation_p.H598Q			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	598					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	AGAAGATATTGTGCCCTTCCA	0.378																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1792-1794)caC>caG		phosphodiesterase 10A	Dipyridamole(DB00975)						95.0	88.0	90.0					6																	165792844		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165792844G>C	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1794C>G	6.37:g.165792844G>C	ENSP00000355847:p.His598Gln					PDE10A_ENST00000354448.4_Missense_Mutation_p.H598Q|PDE10A_ENST00000539869.2_Missense_Mutation_p.H608Q	p.H598Q			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	19	1948	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	598					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.1794C>G		.	.	.	.	.	.	.	.	.	.	G	20.6	4.021976	0.75275	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.80909	-1.43;-1.43	5.95	5.09	0.68999	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	M	0.63843	1.955	0.80722	D	1	D;P	0.89917	1.0;0.533	D;P	0.97110	1.0;0.781	T	0.82849	-0.0254	10	0.29301	T	0.29	.	15.1981	0.73112	0.0672:0.0:0.9328:0.0	.	608;598	Q9ULW9;Q9Y233	.;PDE10_HUMAN	Q	598;626;608;598;597	ENSP00000355847:H598Q;ENSP00000346435:H598Q	ENSP00000341187:H608Q	H	-	3	2	PDE10A	165712834	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.311000	0.78958	1.531000	0.49152	-0.140000	0.14226	CAC		0.378	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			20	33	0	0	0	1	0	20	33				
TSPAN3	10099	broad.mit.edu	37	15	77346572	77346572	+	Missense_Mutation	SNP	T	T	C	rs370307435		TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr15:77346572T>C	ENST00000267970.4	-	4	653	c.380A>G	c.(379-381)aAt>aGt	p.N127S	TSPAN3_ENST00000424443.3_Missense_Mutation_p.N63S|TSPAN3_ENST00000559494.1_Missense_Mutation_p.N38S|TSPAN3_ENST00000558394.1_5'UTR|TSPAN3_ENST00000346495.2_Missense_Mutation_p.N102S|TSPAN3_ENST00000561277.1_5'UTR|TSPAN3_ENST00000558745.1_5'UTR	NM_001168412.1|NM_005724.5|NM_198902.2	NP_001161884.1|NP_005715.1|NP_944492.1	O60637	TSN3_HUMAN	tetraspanin 3	127						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	10				all cancers(203;1.14e-19)		GTTGGTTCCATTGTAGGTCTT	0.413																																						ENST00000267970.4																			0				kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	10						c.(379-381)aAt>aGt		tetraspanin 3		T	SER/ASN,SER/ASN,SER/ASN	0,4392		0,0,2196	168.0	145.0	153.0		188,380,305	6.2	1.0	15		153	1,8587	1.2+/-3.3	0,1,4293	no	missense,missense,missense	TSPAN3	NM_001168412.1,NM_005724.5,NM_198902.2	46,46,46	0,1,6489	CC,CT,TT		0.0116,0.0,0.0077	benign,benign,benign	63/190,127/254,102/229	77346572	1,12979	2196	4294	6490	SO:0001583	missense	10099					integral to membrane		g.chr15:77346572T>C		CCDS10292.1, CCDS10293.1, CCDS53963.1	15q23	2013-02-14	2005-03-21	2005-03-21	ENSG00000140391	ENSG00000140391		"""Tetraspanins"""	17752	protein-coding gene	gene with protein product		613134	"""transmembrane 4 superfamily member 8"""	TM4SF8			Standard	NM_005724		Approved	TM4-A, TSPAN-3	uc002bcj.3	O60637	OTTHUMG00000143728	ENST00000267970.4:c.380A>G	15.37:g.77346572T>C	ENSP00000267970:p.Asn127Ser					TSPAN3_ENST00000558394.1_5'UTR|TSPAN3_ENST00000559494.1_Missense_Mutation_p.N38S|TSPAN3_ENST00000424443.3_Missense_Mutation_p.N63S|TSPAN3_ENST00000346495.2_Missense_Mutation_p.N102S|TSPAN3_ENST00000558745.1_5'UTR|TSPAN3_ENST00000561277.1_5'UTR	p.N127S	NM_001168412.1|NM_005724.5|NM_198902.2	NP_001161884.1|NP_005715.1|NP_944492.1	O60637	TSN3_HUMAN		all cancers(203;1.14e-19)	4	653	-			127					A6NEH4|B3KQQ2|B4DP19|Q9BW22|Q9NVX9	Missense_Mutation	SNP	ENST00000267970.4	37	c.380A>G	CCDS10292.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.028309	0.75390	0.0	1.16E-4	ENSG00000140391	ENST00000267970;ENST00000424443;ENST00000423920;ENST00000346495	T;T;T	0.78707	-1.2;-1.2;-1.2	6.17	6.17	0.99709	Tetraspanin, EC2 domain (1);	0.041178	0.85682	D	0.000000	T	0.80138	0.4568	L	0.51853	1.615	0.80722	D	1	P;B;B;B	0.48407	0.91;0.118;0.067;0.013	P;B;B;B	0.50082	0.63;0.111;0.1;0.1	T	0.78974	-0.1992	10	0.38643	T	0.18	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	63;89;102;127	B4DP19;B4DEK8;A6NEH4;O60637	.;.;.;TSN3_HUMAN	S	127;63;89;102	ENSP00000267970:N127S;ENSP00000407243:N63S;ENSP00000341329:N102S	ENSP00000267970:N127S	N	-	2	0	TSPAN3	75133627	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.961000	0.70356	2.371000	0.80710	0.533000	0.62120	AAT		0.413	TSPAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289792.3	NM_005724		24	32	0	0	0	1	0	24	32				
UST	10090	broad.mit.edu	37	6	149395184	149395184	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr6:149395184A>G	ENST00000367463.4	+	8	1256	c.1153A>G	c.(1153-1155)Acc>Gcc	p.T385A	UST_ENST00000466695.1_3'UTR	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	385					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		TCCACTGGAAACCGAGGAGCC	0.488																																						ENST00000367463.4																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12						c.(1153-1155)Acc>Gcc		uronyl-2-sulfotransferase							97.0	96.0	97.0					6																	149395184		2203	4300	6503	SO:0001583	missense	10090				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity	g.chr6:149395184A>G	AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"""Sulfotransferases, membrane-bound"""	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.1153A>G	6.37:g.149395184A>G	ENSP00000356433:p.Thr385Ala					UST_ENST00000466695.1_3'UTR	p.T385A	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)	8	1256	+		Ovarian(120;0.0907)	385					B2RCX6	Missense_Mutation	SNP	ENST00000367463.4	37	c.1153A>G	CCDS5213.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.613862	0.87359	.	.	ENSG00000111962	ENST00000367463	T	0.52754	0.65	5.3	5.3	0.74995	.	0.153394	0.64402	D	0.000018	T	0.45478	0.1344	N	0.24115	0.695	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	T	0.53034	-0.8495	10	0.59425	D	0.04	-18.537	15.5377	0.76016	1.0:0.0:0.0:0.0	.	385	Q9Y2C2	UST_HUMAN	A	385	ENSP00000356433:T385A	ENSP00000356433:T385A	T	+	1	0	UST	149436877	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	6.743000	0.74848	2.127000	0.65507	0.460000	0.39030	ACC		0.488	UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043363.1	NM_005715		5	75	0	0	0	1	0	5	75				
ACTN4	81	broad.mit.edu	37	19	39214357	39214357	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr19:39214357C>A	ENST00000252699.2	+	13	1622	c.1546C>A	c.(1546-1548)Ctg>Atg	p.L516M	ACTN4_ENST00000424234.2_Missense_Mutation_p.L126M|ACTN4_ENST00000390009.3_Missense_Mutation_p.L297M	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	516					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGGGAAGCCCTGGAGGTGAG	0.627																																					Colon(168;199 1940 10254 46213 46384)	ENST00000252699.2																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30						c.(1546-1548)Ctg>Atg		actinin, alpha 4							34.0	30.0	32.0					19																	39214357		2202	4300	6502	SO:0001583	missense	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39214357C>A	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.1546C>A	19.37:g.39214357C>A	ENSP00000252699:p.Leu516Met					ACTN4_ENST00000424234.2_Missense_Mutation_p.L126M|ACTN4_ENST00000390009.3_Missense_Mutation_p.L297M	p.L516M	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		13	1622	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		516					A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	c.1546C>A	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351131	0.41599	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009	T;D;T	0.83419	-1.41;-1.72;-1.41	3.73	0.72	0.18214	.	0.000000	0.64402	D	0.000020	D	0.90817	0.7116	M	0.92412	3.305	0.45452	D	0.998424	D	0.76494	0.999	D	0.81914	0.995	D	0.88415	0.3024	10	0.87932	D	0	.	7.1613	0.25664	0.0:0.6804:0.0:0.3196	.	516	O43707	ACTN4_HUMAN	M	516;126;297	ENSP00000252699:L516M;ENSP00000411187:L126M;ENSP00000439497:L297M	ENSP00000252699:L516M	L	+	1	2	ACTN4	43906197	0.038000	0.19896	0.990000	0.47175	0.992000	0.81027	0.359000	0.20233	0.080000	0.16959	0.561000	0.74099	CTG		0.627	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			6	8	1	0	0.00116845	1	0.00121427	6	8				
ANKHD1	54882	broad.mit.edu	37	5	139819838	139819838	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr5:139819838A>G	ENST00000360839.2	+	4	906	c.752A>G	c.(751-753)tAt>tGt	p.Y251C	ANKHD1_ENST00000297183.6_Missense_Mutation_p.Y251C|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.Y251C|ANKHD1_ENST00000394723.3_Missense_Mutation_p.Y251C|ANKHD1_ENST00000394722.3_Missense_Mutation_p.Y240C	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	251						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGGTATTATGAATTAGCA	0.323																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(751-753)tAt>tGt		ankyrin repeat and KH domain containing 1							118.0	120.0	119.0					5																	139819838		2203	4300	6503	SO:0001583	missense	54882							g.chr5:139819838A>G	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.752A>G	5.37:g.139819838A>G	ENSP00000354085:p.Tyr251Cys					ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.Y251C|ANKHD1_ENST00000360839.2_Missense_Mutation_p.Y251C|ANKHD1_ENST00000394722.3_Missense_Mutation_p.Y240C|ANKHD1_ENST00000394723.3_Missense_Mutation_p.Y251C	p.Y251C	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	876	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.752A>G	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.156159	0.78114	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000394723;ENST00000511151;ENST00000394722;ENST00000532219	T;T;T;T;T;T;T	0.71698	-0.59;-0.59;2.39;2.39;0.61;2.39;-0.59	5.44	5.44	0.79542	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.76941	0.4058	L	0.28649	0.875	0.80722	D	1	B;D;D;B;B	0.89917	0.005;1.0;1.0;0.002;0.002	B;D;D;B;B	0.91635	0.018;0.999;0.998;0.013;0.008	T	0.79636	-0.1721	10	0.66056	D	0.02	.	15.7727	0.78184	1.0:0.0:0.0:0.0	.	251;251;251;240;251	Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.;.;ANKH1_HUMAN;.;.	C	251;265;251;251;251;251;237;240;251	ENSP00000354085:Y251C;ENSP00000297183:Y251C;ENSP00000394489:Y251C;ENSP00000378212:Y251C;ENSP00000421069:Y237C;ENSP00000378211:Y240C;ENSP00000432016:Y251C	ENSP00000432016:Y251C	Y	+	2	0	ANKHD1-EIF4EBP3;ANKHD1	139800022	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.822000	0.92013	2.186000	0.69663	0.477000	0.44152	TAT		0.323	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		42	23	0	0	0	1	0	42	23				
ZNF343	79175	broad.mit.edu	37	20	2463924	2463924	+	Silent	SNP	T	T	C			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr20:2463924T>C	ENST00000278772.4	-	6	2170	c.1683A>G	c.(1681-1683)aaA>aaG	p.K561K	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	561					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GGAGGAGTGATTTCCGGCTAA	0.502																																						ENST00000278772.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						c.(1681-1683)aaA>aaG		zinc finger protein 343							107.0	91.0	97.0					20																	2463924		2203	4300	6503	SO:0001819	synonymous_variant	79175				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:2463924T>C	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1683A>G	20.37:g.2463924T>C						RP4-734P14.4_ENST00000461548.1_Intron	p.K561K	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN			6	2170	-			561					Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Silent	SNP	ENST00000278772.4	37	c.1683A>G	CCDS13028.1																																																																																				0.502	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		29	47	0	0	0	1	0	29	47				
FAM45A	404636	broad.mit.edu	37	10	120889085	120889085	+	Silent	SNP	G	G	A			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr10:120889085G>A	ENST00000361432.2	+	7	779	c.753G>A	c.(751-753)gtG>gtA	p.V251V	FAM45A_ENST00000489988.1_3'UTR|FAM45A_ENST00000544016.1_Silent_p.V100V|FAM45A_ENST00000535029.1_3'UTR	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	251										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		TCTATGATGTGTTTGTGAATC	0.433																																						ENST00000361432.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14						c.(751-753)gtG>gtA		family with sequence similarity 45, member A							244.0	191.0	209.0					10																	120889085		2203	4297	6500	SO:0001819	synonymous_variant	404636							g.chr10:120889085G>A	AF168713	CCDS7609.1	10q25	2008-09-04			ENSG00000119979	ENSG00000119979			31793	protein-coding gene	gene with protein product							Standard	NM_207009		Approved			Q8TCE6	OTTHUMG00000019143	ENST00000361432.2:c.753G>A	10.37:g.120889085G>A						FAM45A_ENST00000544016.1_Silent_p.V100V|FAM45A_ENST00000489988.1_3'UTR|FAM45A_ENST00000535029.1_3'UTR	p.V251V	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN		all cancers(201;0.0293)	7	779	+		Lung NSC(174;0.094)|all_lung(145;0.123)	251					B1AMV6|B4DDC3|D3DRC8|Q9NXW4	Silent	SNP	ENST00000361432.2	37	c.753G>A	CCDS7609.1																																																																																				0.433	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050623.1	NM_207009		13	30	0	0	0	1	0	13	30				
RGPD4	285190	broad.mit.edu	37	2	108488115	108488115	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr2:108488115G>T	ENST00000408999.3	+	20	3732	c.3655G>T	c.(3655-3657)Gaa>Taa	p.E1219*	RGPD4_ENST00000354986.4_Nonsense_Mutation_p.E1219*	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1219					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AGTCACTGAGGAAGAAAATAA	0.423																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(3655-3657)Gaa>Taa		RANBP2-like and GRIP domain containing 4							4.0	3.0	4.0					2																	108488115		649	1476	2125	SO:0001587	stop_gained	285190				intracellular transport		binding	g.chr2:108488115G>T	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.3655G>T	2.37:g.108488115G>T	ENSP00000386810:p.Glu1219*					RGPD4_ENST00000354986.4_Nonsense_Mutation_p.E1219*	p.E1219*	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			20	3732	+			1219					B9A029	Nonsense_Mutation	SNP	ENST00000408999.3	37	c.3655G>T	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	36	5.613031	0.96637	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	.	.	.	2.33	1.42	0.22433	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-13.0478	7.9286	0.29889	0.136:0.0:0.864:0.0	.	.	.	.	X	1219	.	ENSP00000347081:E1219X	E	+	1	0	RGPD4	107854547	1.000000	0.71417	0.004000	0.12327	0.073000	0.16967	3.936000	0.56568	0.311000	0.23014	0.162000	0.16502	GAA		0.423	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		7	185	1	0	1.58986e-06	1	1.75547e-06	7	185				
GPR128	84873	broad.mit.edu	37	3	100413810	100413810	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr3:100413810C>G	ENST00000273352.3	+	16	2627	c.2359C>G	c.(2359-2361)Ctc>Gtc	p.L787V	GPR128_ENST00000475887.1_Missense_Mutation_p.L492V|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	787					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GGAAATCACACTCTCTGAAAG	0.413																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(2359-2361)Ctc>Gtc		G protein-coupled receptor 128							121.0	116.0	118.0					3																	100413810		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100413810C>G	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.2359C>G	3.37:g.100413810C>G	ENSP00000273352:p.Leu787Val					GPR128_ENST00000475887.1_Missense_Mutation_p.L492V|GPR128_ENST00000481506.1_3'UTR	p.L787V	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			16	2627	+			787					Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.2359C>G	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.457604	0.26161	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.49432	0.78;1.25	5.47	-10.9	0.00192	.	2.183260	0.02407	N	0.081256	T	0.34424	0.0897	M	0.64997	1.995	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.22556	-1.0213	10	0.36615	T	0.2	.	0.4743	0.00537	0.2745:0.1649:0.1805:0.3801	.	492;787	E9PHI0;Q96K78	.;GP128_HUMAN	V	787;492	ENSP00000273352:L787V;ENSP00000419788:L492V	ENSP00000273352:L787V	L	+	1	0	GPR128	101896500	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-8.560000	0.00019	-3.311000	0.00190	-0.825000	0.03093	CTC		0.413	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			25	53	0	0	0	1	0	25	53				
AKR1D1	6718	broad.mit.edu	37	7	137801398	137801398	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr7:137801398A>T	ENST00000242375.3	+	9	1013	c.971A>T	c.(970-972)gAt>gTt	p.D324V	AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Missense_Mutation_p.D283V|AKR1D1_ENST00000432161.1_3'UTR	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	324					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	CCATTTCATGATGAATACTGA	0.448																																						ENST00000242375.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(970-972)gAt>gTt		aldo-keto reductase family 1, member D1							129.0	128.0	129.0					7																	137801398		2203	4300	6503	SO:0001583	missense	6718				androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	g.chr7:137801398A>T	Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"""Aldo-keto reductases"""	388	protein-coding gene	gene with protein product	"""delta 4-3-ketosteroid-5-beta-reductase"""	604741	"""aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"""	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.971A>T	7.37:g.137801398A>T	ENSP00000242375:p.Asp324Val					AKR1D1_ENST00000411726.2_Missense_Mutation_p.D283V|AKR1D1_ENST00000432161.1_3'UTR|AKR1D1_ENST00000468877.2_3'UTR	p.D324V	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN			9	1013	+			324					A1L4P6|A8K060|B4DPN3|B4DPN8	Missense_Mutation	SNP	ENST00000242375.3	37	c.971A>T	CCDS5846.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.053776	0.55218	.	.	ENSG00000122787	ENST00000411726;ENST00000242375	T;T	0.41758	0.99;1.38	4.88	4.88	0.63580	NADP-dependent oxidoreductase domain (1);	0.153842	0.56097	D	0.000028	T	0.49983	0.1589	L	0.54323	1.7	0.80722	D	1	P;B	0.45634	0.863;0.18	P;B	0.51582	0.674;0.415	T	0.53885	-0.8375	10	0.87932	D	0	.	12.4762	0.55814	1.0:0.0:0.0:0.0	.	283;324	B4DPN8;P51857	.;AK1D1_HUMAN	V	283;324	ENSP00000402374:D283V;ENSP00000242375:D324V	ENSP00000242375:D324V	D	+	2	0	AKR1D1	137451938	1.000000	0.71417	0.846000	0.33378	0.066000	0.16364	7.943000	0.87716	2.052000	0.61016	0.533000	0.62120	GAT		0.448	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341637.1	NM_005989		30	33	0	0	0	1	0	30	33				
ULK1	8408	broad.mit.edu	37	12	132393211	132393211	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr12:132393211C>A	ENST00000321867.4	+	6	690	c.339C>A	c.(337-339)gaC>gaA	p.D113E		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	113	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TGAGCGAGGACACCATCAGGC	0.677																																						ENST00000321867.4																			0				breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29						c.(337-339)gaC>gaA		unc-51 like autophagy activating kinase 1							15.0	16.0	16.0					12																	132393211		2189	4286	6475	SO:0001583	missense	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132393211C>A	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.339C>A	12.37:g.132393211C>A	ENSP00000324560:p.Asp113Glu						p.D113E	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	6	690	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		113			Protein kinase.		Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	c.339C>A	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234677	0.39498	.	.	ENSG00000177169	ENST00000321867;ENST00000537421;ENST00000542313	T;T;T	0.64085	-0.08;-0.08;-0.08	5.51	4.63	0.57726	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.46983	0.1421	N	0.01576	-0.805	0.80722	D	1	P	0.36683	0.565	P	0.49953	0.627	T	0.58544	-0.7618	10	0.48119	T	0.1	-54.0598	11.3471	0.49567	0.0:0.8541:0.0:0.1459	.	113	O75385	ULK1_HUMAN	E	113;30;7	ENSP00000324560:D113E;ENSP00000438953:D30E;ENSP00000444983:D7E	ENSP00000324560:D113E	D	+	3	2	ULK1	130959164	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.712000	0.37940	1.336000	0.45506	0.455000	0.32223	GAC		0.677	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			6	13	1	0	0.00116845	1	0.00121427	6	13				
ZNF546	339327	broad.mit.edu	37	19	40504315	40504315	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr19:40504315A>G	ENST00000347077.4	+	3	298	c.82A>G	c.(82-84)Atg>Gtg	p.M28V	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	28					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACTTTCTATAATGGTAGAGAA	0.388																																						ENST00000347077.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34						c.(82-84)Atg>Gtg		zinc finger protein 546							77.0	76.0	76.0					19																	40504315		2203	4300	6503	SO:0001583	missense	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40504315A>G	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.82A>G	19.37:g.40504315A>G	ENSP00000339823:p.Met28Val					ZNF546_ENST00000600094.1_Intron|ZNF546_ENST00000596894.1_Intron	p.M28V	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN			3	298	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		28					A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	c.82A>G	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	a	5.941	0.357693	0.11239	.	.	ENSG00000187187	ENST00000347077	T	0.05925	3.37	2.01	-0.207	0.13189	.	.	.	.	.	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47156	-0.9139	9	0.21014	T	0.42	.	1.7761	0.03022	0.545:0.0:0.1749:0.2801	.	28	Q86UE3	ZN546_HUMAN	V	28	ENSP00000339823:M28V	ENSP00000339823:M28V	M	+	1	0	ZNF546	45196155	0.001000	0.12720	0.004000	0.12327	0.085000	0.17905	0.188000	0.17018	-0.132000	0.11557	0.528000	0.53228	ATG		0.388	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		5	28	0	0	0	1	0	5	28				
CSMD3	114788	broad.mit.edu	37	8	113516155	113516155	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr8:113516155G>T	ENST00000297405.5	-	30	5191	c.4947C>A	c.(4945-4947)gaC>gaA	p.D1649E	CSMD3_ENST00000343508.3_Missense_Mutation_p.D1609E|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1545E|CSMD3_ENST00000352409.3_Missense_Mutation_p.D1649E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1649	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCTATTACTGTCTGGTCCAT	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(4945-4947)gaC>gaA		CUB and Sushi multiple domains 3							152.0	141.0	144.0					8																	113516155		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113516155G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4947C>A	8.37:g.113516155G>T	ENSP00000297405:p.Asp1649Glu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Missense_Mutation_p.D1545E|CSMD3_ENST00000343508.3_Missense_Mutation_p.D1609E|CSMD3_ENST00000352409.3_Missense_Mutation_p.D1649E	p.D1649E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			30	5191	-			1649			CUB 9.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4947C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201032	0.58234	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	4.96	3.01	0.34805	CUB (5);	0.000000	0.64402	D	0.000001	T	0.27798	0.0684	L	0.49350	1.555	0.23720	N	0.997024	P;P;D	0.60160	0.928;0.942;0.987	P;P;D	0.66716	0.778;0.858;0.946	T	0.03403	-1.1040	10	0.28530	T	0.3	.	7.5852	0.27989	0.3259:0.0:0.6741:0.0	.	1545;1649;1609	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	E	1609;1649;989;1545;1649	ENSP00000345799:D1609E;ENSP00000297405:D1649E;ENSP00000341558:D989E;ENSP00000412263:D1545E;ENSP00000343124:D1649E	ENSP00000297405:D1649E	D	-	3	2	CSMD3	113585331	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.894000	0.28350	1.306000	0.44926	0.557000	0.71058	GAC		0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		22	37	1	0	5.26018e-13	1	5.93169e-13	22	37				
TMEM200A	114801	broad.mit.edu	37	6	130762093	130762093	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr6:130762093A>C	ENST00000296978.3	+	3	1397	c.526A>C	c.(526-528)Aag>Cag	p.K176Q	TMEM200A_ENST00000545622.1_Missense_Mutation_p.K176Q|TMEM200A_ENST00000392429.1_Missense_Mutation_p.K176Q	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	176						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GCTAAGAATCAAGGAGCAAAG	0.428																																						ENST00000392429.1																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(526-528)Aag>Cag		transmembrane protein 200A							103.0	94.0	97.0					6																	130762093		2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130762093A>C	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.526A>C	6.37:g.130762093A>C	ENSP00000296978:p.Lys176Gln					TMEM200A_ENST00000545622.1_Missense_Mutation_p.K176Q|TMEM200A_ENST00000296978.3_Missense_Mutation_p.K176Q	p.K176Q	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	2	2904	+			176					Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.526A>C	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	A	13.39	2.224032	0.39300	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.6	4.42	0.53409	.	0.098651	0.64402	D	0.000003	T	0.45135	0.1327	M	0.61703	1.905	0.44719	D	0.997718	B	0.09022	0.002	B	0.09377	0.004	T	0.50947	-0.8767	9	0.72032	D	0.01	.	12.8949	0.58093	0.8642:0.1358:0.0:0.0	.	176	Q86VY9	T200A_HUMAN	Q	176	.	ENSP00000296978:K176Q	K	+	1	0	TMEM200A	130803786	1.000000	0.71417	0.999000	0.59377	0.811000	0.45836	5.866000	0.69590	0.936000	0.37367	0.533000	0.62120	AAG		0.428	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		27	51	0	0	0	1	0	27	51				
HUWE1	10075	broad.mit.edu	37	X	53600715	53600715	+	Nonsense_Mutation	SNP	T	T	A			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chrX:53600715T>A	ENST00000342160.3	-	46	6764	c.6307A>T	c.(6307-6309)Aaa>Taa	p.K2103*	HUWE1_ENST00000262854.6_Nonsense_Mutation_p.K2103*			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2103					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATTACCTCTTTGATCAGTTCA	0.458																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(6307-6309)Aaa>Taa		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							125.0	101.0	109.0					X																	53600715		2203	4300	6503	SO:0001587	stop_gained	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53600715T>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.6307A>T	X.37:g.53600715T>A	ENSP00000340648:p.Lys2103*					HUWE1_ENST00000262854.6_Nonsense_Mutation_p.K2103*	p.K2103*			Q7Z6Z7	HUWE1_HUMAN			46	6764	-			2103					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Nonsense_Mutation	SNP	ENST00000342160.3	37	c.6307A>T	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	51|51	17.841252|17.841252	0.99894|0.99894	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.65450	.|0.2692	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70901	.|-0.4746	.|3	0.02654|.	T|.	1|.	.|.	13.8699|13.8699	0.63612|0.63612	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	X|L	2103|1136	.|.	ENSP00000262854:K2103X|.	K|Q	-|-	1|2	0|0	HUWE1|HUWE1	53617440|53617440	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	7.639000|7.639000	0.83342|0.83342	1.920000|1.920000	0.55613|0.55613	0.345000|0.345000	0.21793|0.21793	AAA|CAA		0.458	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		16	29	0	0	0	1	0	16	29				
HERC6	55008	broad.mit.edu	37	4	89314703	89314703	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr4:89314703G>A	ENST00000264346.7	+	5	787	c.728G>A	c.(727-729)tGt>tAt	p.C243Y	HERC6_ENST00000380265.5_Missense_Mutation_p.C243Y|HERC6_ENST00000273960.3_Missense_Mutation_p.C243Y	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	243					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TATATCAGCTGTGGTGATGCA	0.403																																						ENST00000380265.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11						c.(727-729)tGt>tAt		HECT and RLD domain containing E3 ubiquitin protein ligase family member 6							107.0	104.0	105.0					4																	89314703		1889	4128	6017	SO:0001583	missense	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89314703G>A	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.728G>A	4.37:g.89314703G>A	ENSP00000264346:p.Cys243Tyr					HERC6_ENST00000264346.7_Missense_Mutation_p.C243Y|HERC6_ENST00000273960.3_Missense_Mutation_p.C243Y	p.C243Y	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	5	911	+		Hepatocellular(203;0.114)	243					B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	c.728G>A	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673654	0.47781	.	.	ENSG00000138642	ENST00000380265;ENST00000438983;ENST00000511939;ENST00000273960;ENST00000264346	D;D;D	0.90069	-2.61;-1.63;-2.61	4.49	4.49	0.54785	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.96253	0.8778	H	0.96547	3.84	0.45979	D	0.998797	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97631	1.0142	10	0.87932	D	0	.	16.1496	0.81605	0.0:0.0:1.0:0.0	.	243;243	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	Y	243	ENSP00000369617:C243Y;ENSP00000273960:C243Y;ENSP00000264346:C243Y	ENSP00000264346:C243Y	C	+	2	0	HERC6	89533726	1.000000	0.71417	0.999000	0.59377	0.079000	0.17450	8.767000	0.91732	2.345000	0.79718	0.585000	0.79938	TGT		0.403	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			5	13	0	0	0	1	0	5	13				
GDF3	9573	broad.mit.edu	37	12	7842783	7842783	+	Silent	SNP	G	G	A			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr12:7842783G>A	ENST00000329913.3	-	2	833	c.786C>T	c.(784-786)aaC>aaT	p.N262N		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	262					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGTGGCAGAGGTTCTTACAAG	0.537																																						ENST00000329913.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(784-786)aaC>aaT		growth differentiation factor 3							82.0	75.0	78.0					12																	7842783		2203	4300	6503	SO:0001819	synonymous_variant	9573				eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:7842783G>A	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"""Endogenous ligands"""	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.786C>T	12.37:g.7842783G>A							p.N262N	NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN			2	833	-			262					Q8NEJ4	Silent	SNP	ENST00000329913.3	37	c.786C>T	CCDS8581.1																																																																																				0.537	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			42	58	0	0	0	1	0	42	58				
SLAMF1	6504	broad.mit.edu	37	1	160589601	160589601	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr1:160589601delT	ENST00000302035.6	-	5	1178	c.829delA	c.(829-831)agcfs	p.S277fs	SLAMF1_ENST00000355199.3_Frame_Shift_Del_p.S277fs|SLAMF1_ENST00000538290.1_Intron|SLAMF1_ENST00000235739.5_Frame_Shift_Del_p.S247fs	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	277					lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATCGTAAGGCTTTTTTTTTCC	0.433																																						ENST00000302035.6																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(829-831)gcfs		signaling lymphocytic activation molecule family member 1							265.0	264.0	264.0					1																	160589601		2203	4300	6503	SO:0001589	frameshift_variant	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160589601delT	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.829delA	1.37:g.160589601delT	ENSP00000306190:p.Ser277fs					SLAMF1_ENST00000235739.5_Frame_Shift_Del_p.S247fs|SLAMF1_ENST00000355199.3_Frame_Shift_Del_p.S277fs|SLAMF1_ENST00000538290.1_Intron	p.S277fs	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		5	1178	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		277					Q5W172|Q9HBE8	Frame_Shift_Del	DEL	ENST00000302035.6	37	c.829delA	CCDS1207.1																																																																																				0.433	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			8	155						8	155	---	---	---	---
COL26A1	136227	broad.mit.edu	37	7	101183401	101183401	+	RNA	DEL	C	C	-			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr7:101183401delC	ENST00000397927.3	+	0	817				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000313669.7_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											CCCAGGGCCTCCCTAGAGAGG	0.557																																						ENST00000313669.7																			0													collagen, type XXVI, alpha 1																																						136227							g.chr7:101183401delC	AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"""Collagens"", ""EMI domain containing"""	18038	protein-coding gene	gene with protein product	"""Emu2 gene"""	608927	"""EMI domain containing 2"""	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101183401delC						COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA		NM_133457.2	NP_597714.2					0	796	+								Q32M90	RNA	DEL	ENST00000397927.3	37																																																																																						0.557	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457		8	9						8	9	---	---	---	---
P4HA1	5033	broad.mit.edu	37	10	74813231	74813232	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr10:74813231_74813232delAG	ENST00000307116.2	-	6	696_697	c.580_581delCT	c.(580-582)ctgfs	p.L194fs	P4HA1_ENST00000440381.1_Frame_Shift_Del_p.L194fs|P4HA1_ENST00000412021.2_Frame_Shift_Del_p.L194fs|P4HA1_ENST00000394890.2_Frame_Shift_Del_p.L194fs|P4HA1_ENST00000263556.3_Frame_Shift_Del_p.L194fs|P4HA1_ENST00000373008.2_Frame_Shift_Del_p.L194fs			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	194					collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GCCTTCATCCAGTTGCCTTAGG	0.446																																					Colon(147;367 2405 2662 52127)	ENST00000412021.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(580-582)gfs		prolyl 4-hydroxylase, alpha polypeptide I	Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)																																			SO:0001589	frameshift_variant	5033					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr10:74813231_74813232delAG		CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(I)"""	176710	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"""	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.580_581delCT	10.37:g.74813231_74813232delAG	ENSP00000307318:p.Leu194fs					P4HA1_ENST00000307116.2_Frame_Shift_Del_p.L194fs|P4HA1_ENST00000440381.1_Frame_Shift_Del_p.L194fs|P4HA1_ENST00000373008.2_Frame_Shift_Del_p.L194fs|P4HA1_ENST00000394890.2_Frame_Shift_Del_p.L194fs|P4HA1_ENST00000263556.3_Frame_Shift_Del_p.L194fs	p.L194fs	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN			7	913_914	-	Prostate(51;0.0198)		194					C9JL12|Q15082|Q15083|Q5VSQ5	Frame_Shift_Del	DEL	ENST00000307116.2	37	c.580_581delCT																																																																																					0.446	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917		49	71						49	71	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49447385	49447385	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr12:49447385delA	ENST00000301067.7	-	6	712	c.713delT	c.(712-714)ttgfs	p.L238fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	238	Cys-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CAGGTCACACAACTCCCCTGG	0.597																																						ENST00000301067.7																			0											c.(712-714)tgfs		lysine (K)-specific methyltransferase 2D							39.0	42.0	41.0					12																	49447385		2128	4229	6357	SO:0001589	frameshift_variant	8085							g.chr12:49447385delA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.713delT	12.37:g.49447385delA	ENSP00000301067:p.Leu238fs						p.L238fs	NM_003482.3	NP_003473.3					6	712	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.713delT	CCDS44873.1																																																																																				0.597	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			9	4						9	4	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7576862	7576863	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A61W-01A-11D-A28R-08	TCGA-F7-A61W-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed0da491-dc84-4ed1-8339-e12bf5c9503f	ac306330-1113-45d8-bb1f-029bc54aff50	g.chr17:7576862_7576863insA	ENST00000269305.4	-	9	1172_1173	c.983_984insT	c.(982-984)ttcfs	p.F328fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.F328fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Ins_p.F328fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.F328fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Frame_Shift_Ins_p.F328fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	328	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.T329fs*8(3)|p.F328F(1)|p.T329fs*21(1)|p.F328S(1)|p.?(1)|p.F328fs*9(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTGAAGGGTGAAATATTCTCC	0.441		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		16	Whole gene deletion(8)|Insertion - Frameshift(5)|Substitution - Missense(1)|Unknown(1)|Substitution - coding silent(1)	p.0?(8)|p.T329fs*8(3)|p.F328F(1)|p.T329fs*21(1)|p.F328S(1)|p.?(1)|p.F328fs*9(1)	bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|stomach(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(982-984)tacfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576862_7576863insA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.984dupT	17.37:g.7576865_7576865dupA	ENSP00000269305:p.Phe328fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Frame_Shift_Ins_p.Y328fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.Y328fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Y328fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.Y328fs	p.Y328fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1115_1116	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	328		F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.983_984insT	CCDS11118.1																																																																																				0.441	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		90	22						90	22	---	---	---	---
