#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
CCDC94	55702	broad.mit.edu	37	19	4267629	4267629	+	Silent	SNP	G	G	A	rs144896215	byFrequency	TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr19:4267629G>A	ENST00000262962.7	+	7	785	c.717G>A	c.(715-717)aaG>aaA	p.K239K		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	239										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		AGGCCCCAAAGCCCAAGAGGA	0.687											OREG0025164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262962.7																			0				NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7						c.(715-717)aaG>aaA		coiled-coil domain containing 94		G		0,4406		0,0,2203	33.0	34.0	33.0		717	-3.2	0.0	19	dbSNP_134	33	5,8595	3.7+/-12.6	0,5,4295	no	coding-synonymous	CCDC94	NM_018074.4		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		239/324	4267629	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	55702							g.chr19:4267629G>A	AK001236	CCDS12124.1	19p13.3	2008-02-05				ENSG00000105248			25518	protein-coding gene	gene with protein product						12477932	Standard	NM_018074		Approved	FLJ10374	uc002lzv.4	Q9BW85		ENST00000262962.7:c.717G>A	19.37:g.4267629G>A			OREG0025164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	617		p.K239K	NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)	7	785	+			239					O75270|Q9H862|Q9NW16	Silent	SNP	ENST00000262962.7	37	c.717G>A	CCDS12124.1																																																																																				0.687	CCDC94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458007.2	NM_018074		14	37	0	0	0	0.024245	0	14	37				
GLIS3	169792	broad.mit.edu	37	9	4117907	4117907	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr9:4117907A>G	ENST00000324333.10	-	3	1299	c.1106T>C	c.(1105-1107)gTc>gCc	p.V369A	GLIS3_ENST00000381971.3_Missense_Mutation_p.V524A	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	369					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GTCGATGTGGACCTTCTCGAT	0.612																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(1105-1107)gTc>gCc		GLIS family zinc finger 3							118.0	104.0	109.0					9																	4117907		2203	4300	6503	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4117907A>G	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1106T>C	9.37:g.4117907A>G	ENSP00000325494:p.Val369Ala					GLIS3_ENST00000381971.3_Missense_Mutation_p.V524A	p.V369A	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	3	1299	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	369					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.1106T>C	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	A	12.04	1.817906	0.32145	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	D;D	0.86366	-2.11;-2.03	5.51	5.51	0.81932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.46442	D	0.000283	T	0.81837	0.4907	L	0.41027	1.25	0.35017	D	0.757442	B;B;B;P;P	0.41131	0.136;0.131;0.425;0.739;0.476	B;B;B;B;B	0.39185	0.105;0.102;0.229;0.293;0.159	D	0.83678	0.0170	10	0.15952	T	0.53	.	15.6315	0.76912	1.0:0.0:0.0:0.0	.	32;37;37;524;369	Q1PHK4;Q1PHK2;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;.;GLIS3_HUMAN	A	369;524	ENSP00000325494:V369A;ENSP00000371398:V524A	ENSP00000325494:V369A	V	-	2	0	GLIS3	4107907	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.128000	0.64733	2.098000	0.63641	0.533000	0.62120	GTC		0.612	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		11	73	0	0	0	0.010729	0	11	73				
CEP120	153241	broad.mit.edu	37	5	122729184	122729184	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr5:122729184G>T	ENST00000306467.5	-	6	924	c.620C>A	c.(619-621)cCa>cAa	p.P207Q	CEP120_ENST00000395431.2_Missense_Mutation_p.P207Q|CEP120_ENST00000328236.5_Missense_Mutation_p.P207Q|CEP120_ENST00000306481.6_Missense_Mutation_p.P181Q			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	207					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						CATGGTACATGGAATTAACTA	0.303																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(619-621)cCa>cAa		centrosomal protein 120kDa							80.0	78.0	78.0					5																	122729184		1808	4074	5882	SO:0001583	missense	153241					centrosome		g.chr5:122729184G>T	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.620C>A	5.37:g.122729184G>T	ENSP00000303058:p.Pro207Gln					CEP120_ENST00000306481.6_Missense_Mutation_p.P181Q|CEP120_ENST00000395431.2_Missense_Mutation_p.P207Q|CEP120_ENST00000328236.5_Missense_Mutation_p.P207Q	p.P207Q			Q8N960	CE120_HUMAN			6	924	-			207					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.620C>A	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498085	0.85069	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442;ENST00000395431	T;T;T;T	0.59083	1.6;1.6;1.6;0.29	5.69	5.69	0.88448	.	0.190831	0.45126	D	0.000391	T	0.76630	0.4014	M	0.70275	2.135	0.58432	D	0.999996	D	0.76494	0.999	D	0.73380	0.98	T	0.77781	-0.2459	10	0.72032	D	0.01	-15.1391	19.8051	0.96529	0.0:0.0:1.0:0.0	.	207	Q8N960	CE120_HUMAN	Q	207;207;181;181;207	ENSP00000303058:P207Q;ENSP00000327504:P207Q;ENSP00000307419:P181Q;ENSP00000421620:P181Q	ENSP00000303058:P207Q	P	-	2	0	CEP120	122757083	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.727000	0.98787	2.702000	0.92279	0.591000	0.81541	CCA		0.303	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		20	31	1	0	3.6726e-16	0.021523	4.39024e-16	20	31				
GREM2	64388	broad.mit.edu	37	1	240656691	240656691	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:240656691C>T	ENST00000318160.4	-	2	351	c.85G>A	c.(85-87)Gcc>Acc	p.A29T		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	29					BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			GAGGGGATGGCGCCCGCCGGC	0.622																																						ENST00000318160.4																			0				endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10						c.(85-87)Gcc>Acc		gremlin 2, DAN family BMP antagonist							15.0	17.0	16.0					1																	240656691		2193	4284	6477	SO:0001583	missense	64388				BMP signaling pathway	extracellular space	cytokine activity	g.chr1:240656691C>T	AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"""protein related to DAN and cerberus"""	608832	"""gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 2"""			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.85G>A	1.37:g.240656691C>T	ENSP00000318650:p.Ala29Thr						p.A29T	NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0123)		2	351	-		all_cancers(173;0.0196)	29					Q86UD9	Missense_Mutation	SNP	ENST00000318160.4	37	c.85G>A	CCDS31070.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722671	0.89298	.	.	ENSG00000180875	ENST00000318160	T	0.34859	1.34	4.87	4.87	0.63330	.	0.071009	0.64402	U	0.000019	T	0.42698	0.1214	L	0.50333	1.59	0.49213	D	0.999768	D	0.54964	0.969	P	0.47075	0.536	T	0.46665	-0.9175	10	0.66056	D	0.02	-20.4726	18.0383	0.89312	0.0:1.0:0.0:0.0	.	29	Q9H772	GREM2_HUMAN	T	29	ENSP00000318650:A29T	ENSP00000318650:A29T	A	-	1	0	GREM2	238723314	0.997000	0.39634	0.998000	0.56505	0.990000	0.78478	4.004000	0.57068	2.251000	0.74343	0.557000	0.71058	GCC		0.622	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096286.1	NM_022469		10	17	0	0	0	0.008291	0	10	17				
LRFN5	145581	broad.mit.edu	37	14	42360816	42360816	+	Silent	SNP	A	A	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr14:42360816A>T	ENST00000298119.4	+	4	2938	c.1749A>T	c.(1747-1749)gtA>gtT	p.V583V	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	583						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCTGTAGTGTAACGCTGCCCC	0.453										HNSCC(30;0.082)																												ENST00000298119.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(1747-1749)gtA>gtT		leucine rich repeat and fibronectin type III domain containing 5							109.0	96.0	100.0					14																	42360816		2203	4300	6503	SO:0001819	synonymous_variant	145581					integral to membrane		g.chr14:42360816A>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1749A>T	14.37:g.42360816A>T		HNSCC(30;0.082)				LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	p.V583V	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	2938	+			583					B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	c.1749A>T	CCDS9678.1																																																																																				0.453	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		22	48	0	0	0	0.010504	0	22	48				
SCARB2	950	broad.mit.edu	37	4	77091132	77091132	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr4:77091132G>T	ENST00000264896.2	-	8	1350	c.1001C>A	c.(1000-1002)cCc>cAc	p.P334H	SCARB2_ENST00000452464.2_Missense_Mutation_p.P191H	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	334					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)	p.P334H(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			CATAATGATGGGTGCACCTGC	0.413																																						ENST00000264896.2																			1	Substitution - Missense(1)	p.P334H(1)	endometrium(1)	breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22						c.(1000-1002)cCc>cAc		scavenger receptor class B, member 2							134.0	126.0	129.0					4																	77091132		2203	4300	6503	SO:0001583	missense	950				cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity	g.chr4:77091132G>T	D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"""	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.1001C>A	4.37:g.77091132G>T	ENSP00000264896:p.Pro334His					SCARB2_ENST00000452464.2_Missense_Mutation_p.P191H	p.P334H	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	Lung(101;0.196)		8	1350	-			334					B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	ENST00000264896.2	37	c.1001C>A	CCDS3577.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144160	0.77888	.	.	ENSG00000138760	ENST00000264896;ENST00000452464	D;D	0.86956	-2.19;-2.19	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.95554	0.8555	H	0.95780	3.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96940	0.9687	10	0.87932	D	0	.	17.1465	0.86767	0.0:0.0:1.0:0.0	.	191;334	E7EM68;Q14108	.;SCRB2_HUMAN	H	334;191	ENSP00000264896:P334H;ENSP00000399154:P191H	ENSP00000264896:P334H	P	-	2	0	SCARB2	77310156	1.000000	0.71417	0.995000	0.50966	0.845000	0.48019	8.790000	0.91844	2.406000	0.81754	0.460000	0.39030	CCC		0.413	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1	NM_005506		5	107	1	0	4.096e-09	0.021553	4.58047e-09	5	107				
PRR12	57479	broad.mit.edu	37	19	50099696	50099696	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr19:50099696A>T	ENST00000418929.2	+	4	2116	c.2104A>T	c.(2104-2106)Agt>Tgt	p.S702C		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCACCTGCAGAGTGTCATCCG	0.657																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(2104-2106)Agt>Tgt		proline rich 12							17.0	20.0	19.0					19																	50099696		1981	4159	6140	SO:0001583	missense	57479						DNA binding	g.chr19:50099696A>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.2104A>T	19.37:g.50099696A>T	ENSP00000394510:p.Ser702Cys						p.S702C	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	2116	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	431			Pro-rich.		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.2104A>T	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	A	10.70	1.425293	0.25639	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.92	2.85	0.33270	.	.	.	.	.	T	0.72985	0.3529	.	.	.	0.36391	D	0.862529	D	0.89917	1.0	D	0.83275	0.996	T	0.77289	-0.2643	7	0.87932	D	0	.	9.4441	0.38686	0.8202:0.1798:0.0:0.0	.	702	Q9ULL5-3	.	C	702	.	ENSP00000394510:S702C	S	+	1	0	PRR12	54791508	1.000000	0.71417	0.986000	0.45419	0.937000	0.57800	5.015000	0.64035	0.468000	0.27243	0.260000	0.18958	AGT		0.657	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		14	20	0	0	0	0.016723	0	14	20				
PCSK5	5125	broad.mit.edu	37	9	78911648	78911648	+	Silent	SNP	C	C	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr9:78911648C>A	ENST00000545128.1	+	27	3928	c.3390C>A	c.(3388-3390)tcC>tcA	p.S1130S		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1130	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AATGTGAGTCCTGCCACCGAG	0.552																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(3388-3390)tcC>tcA		proprotein convertase subtilisin/kexin type 5							86.0	77.0	80.0					9																	78911648		876	1991	2867	SO:0001819	synonymous_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78911648C>A		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.3390C>A	9.37:g.78911648C>A							p.S1130S	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			27	3928	+			837					F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	c.3390C>A	CCDS55320.1																																																																																				0.552	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				14	36	1	0	4.3838e-07	0.016723	4.74912e-07	14	36				
BPIFB4	149954	broad.mit.edu	37	20	31671216	31671216	+	Silent	SNP	C	C	A	rs145261889		TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr20:31671216C>A	ENST00000375483.3	+	3	213	c.213C>A	c.(211-213)ccC>ccA	p.P71P		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	71						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										TCCGAGGACCCCCCCCAGTAT	0.488																																						ENST00000375483.3																			0											c.(211-213)ccC>ccA		BPI fold containing family B, member 4							87.0	85.0	86.0					20																	31671216		2203	4300	6503	SO:0001819	synonymous_variant	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31671216C>A	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.213C>A	20.37:g.31671216C>A							p.P71P	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			3	213	+			71					Q5TDX6	Silent	SNP	ENST00000375483.3	37	c.213C>A	CCDS13213.2																																																																																				0.488	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		39	113	1	0	7.05121e-23	0.039052	8.62737e-23	39	113				
PCNX	22990	broad.mit.edu	37	14	71500712	71500712	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr14:71500712G>A	ENST00000304743.2	+	18	4179	c.3733G>A	c.(3733-3735)Gaa>Aaa	p.E1245K	PCNX_ENST00000238570.5_Missense_Mutation_p.E1245K|PCNX_ENST00000439984.3_Missense_Mutation_p.E1134K	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1245						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CCCTCTATCTGAAGTAAAAGA	0.308																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(3733-3735)Gaa>Aaa		pecanex homolog (Drosophila)							54.0	60.0	58.0					14																	71500712		2202	4293	6495	SO:0001583	missense	22990					integral to membrane		g.chr14:71500712G>A	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3733G>A	14.37:g.71500712G>A	ENSP00000304192:p.Glu1245Lys					PCNX_ENST00000439984.3_Missense_Mutation_p.E1134K|PCNX_ENST00000238570.5_Missense_Mutation_p.E1245K	p.E1245K	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	18	4179	+			1245					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.3733G>A	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742152	0.89573	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.10477	3.28;3.25;2.87	5.2	5.2	0.72013	.	0.099300	0.64402	D	0.000002	T	0.33323	0.0859	M	0.69358	2.11	0.80722	D	1	D;P;D	0.67145	0.996;0.949;0.996	D;P;P	0.76071	0.987;0.771;0.874	T	0.02226	-1.1192	10	0.52906	T	0.07	.	18.7492	0.91807	0.0:0.0:1.0:0.0	.	1245;1134;1245	Q96RV3-3;B2RTR6;Q96RV3	.;.;PCX1_HUMAN	K	1245;1245;1134	ENSP00000304192:E1245K;ENSP00000238570:E1245K;ENSP00000396617:E1134K	ENSP00000238570:E1245K	E	+	1	0	PCNX	70570465	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.954000	0.93051	2.420000	0.82092	0.650000	0.86243	GAA		0.308	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		35	87	0	0	0	0.023175	0	35	87				
UBE2Q1	55585	broad.mit.edu	37	1	154524644	154524644	+	Silent	SNP	G	G	A	rs367889852	byFrequency	TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:154524644G>A	ENST00000292211.4	-	8	970	c.891C>T	c.(889-891)agC>agT	p.S297S	UBE2Q1-AS1_ENST00000441613.1_RNA|UBE2Q1_ENST00000497453.1_5'Flank	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	297					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGTGCAAAGCGCTGTCCTGGT	0.493													G|||	5	0.000998403	0.0	0.0072	5008	,	,		19477	0.0		0.0	False		,,,				2504	0.0					ENST00000292211.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16						c.(889-891)agC>agT		ubiquitin-conjugating enzyme E2Q family member 1		G		0,4406		0,0,2203	82.0	88.0	86.0		891	3.1	1.0	1		86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	UBE2Q1	NM_017582.6		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		297/423	154524644	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55585						ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr1:154524644G>A	AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"""Ubiquitin-conjugating enzymes E2"""	15698	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2Q (putative)"""	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.891C>T	1.37:g.154524644G>A							p.S297S	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		8	970	-	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		297					B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Silent	SNP	ENST00000292211.4	37	c.891C>T	CCDS1069.1																																																																																				0.493	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090704.1	NM_017582		18	98	0	0	0	0.043863	0	18	98				
UBR5	51366	broad.mit.edu	37	8	103354705	103354705	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr8:103354705T>C	ENST00000520539.1	-	9	1700	c.1094A>G	c.(1093-1095)gAt>gGt	p.D365G	UBR5_ENST00000521922.1_Missense_Mutation_p.D359G|UBR5_ENST00000220959.4_Missense_Mutation_p.D365G	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	365					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AAATACCTTATCAGGCCACCA	0.408																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(1093-1095)gAt>gGt		ubiquitin protein ligase E3 component n-recognin 5							142.0	138.0	139.0					8																	103354705		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103354705T>C	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1094A>G	8.37:g.103354705T>C	ENSP00000429084:p.Asp365Gly					UBR5_ENST00000521922.1_Missense_Mutation_p.D359G|UBR5_ENST00000220959.4_Missense_Mutation_p.D365G	p.D365G	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		9	1700	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		365					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.1094A>G	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	T	18.79	3.698067	0.68386	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.79653	-1.29;-1.29;-1.29	5.25	5.25	0.73442	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.000000	0.85682	D	0.000000	T	0.76456	0.3990	L	0.52011	1.625	0.80722	D	1	P;P	0.38535	0.635;0.635	B;B	0.35813	0.211;0.211	T	0.79838	-0.1634	10	0.72032	D	0.01	.	15.4455	0.75225	0.0:0.0:0.0:1.0	.	359;365	E7EMW7;O95071	.;UBR5_HUMAN	G	365;365;359	ENSP00000429084:D365G;ENSP00000220959:D365G;ENSP00000427819:D359G	ENSP00000220959:D365G	D	-	2	0	UBR5	103423881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.110000	0.64415	0.533000	0.62120	GAT		0.408	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		81	88	0	0	0	0.014410	0	81	88				
GLRA3	8001	broad.mit.edu	37	4	175598318	175598318	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr4:175598318C>T	ENST00000274093.3	-	7	1340	c.838G>A	c.(838-840)Gat>Aat	p.D280N	GLRA3_ENST00000340217.5_Missense_Mutation_p.D280N	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	280					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	GGTGCTGCATCCATGTTGATC	0.473																																						ENST00000274093.3																			0				endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35						c.(838-840)Gat>Aat		glycine receptor, alpha 3	Glycine(DB00145)						116.0	99.0	105.0					4																	175598318		2203	4300	6503	SO:0001583	missense	8001				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chr4:175598318C>T	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.838G>A	4.37:g.175598318C>T	ENSP00000274093:p.Asp280Asn					GLRA3_ENST00000340217.5_Missense_Mutation_p.D280N	p.D280N	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	7	1340	-		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)	280					D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	ENST00000274093.3	37	c.838G>A	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990430	0.74589	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	D;D	0.87256	-2.23;-2.23	5.42	5.42	0.78866	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.85750	0.5769	L	0.38838	1.175	0.80722	D	1	B;B	0.33477	0.36;0.413	B;B	0.39590	0.131;0.304	D	0.85873	0.1417	10	0.72032	D	0.01	.	19.1952	0.93684	0.0:1.0:0.0:0.0	.	280;280	O75311-2;O75311	.;GLRA3_HUMAN	N	280	ENSP00000274093:D280N;ENSP00000345284:D280N	ENSP00000274093:D280N	D	-	1	0	GLRA3	175834893	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	7.701000	0.84566	2.530000	0.85305	0.655000	0.94253	GAT		0.473	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			20	38	0	0	0	0.010504	0	20	38				
FNDC7	163479	broad.mit.edu	37	1	109270438	109270438	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:109270438T>C	ENST00000370017.3	+	7	1397	c.1120T>C	c.(1120-1122)Tgt>Cgt	p.C374R	FNDC7_ENST00000271311.2_Missense_Mutation_p.C375R	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	374	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		AGCTCCCTGTTGTCCTAGTGA	0.547																																						ENST00000370017.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20						c.(1120-1122)Tgt>Cgt		fibronectin type III domain containing 7							236.0	212.0	220.0					1																	109270438		2203	4300	6503	SO:0001583	missense	163479					extracellular region		g.chr1:109270438T>C		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"""Fibronectin type III domain containing"""	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.1120T>C	1.37:g.109270438T>C	ENSP00000359034:p.Cys374Arg					FNDC7_ENST00000271311.2_Missense_Mutation_p.C375R	p.C374R	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	7	1397	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	375					A1L468|E9PAZ5|Q6PF16|Q8NA51	Missense_Mutation	SNP	ENST00000370017.3	37	c.1120T>C	CCDS44185.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.2|21.2	4.118215|4.118215	0.77323|0.77323	.|.	.|.	ENSG00000143107|ENSG00000143107	ENST00000370017;ENST00000271311|ENST00000445274	T;T|.	0.21543|.	2.0;2.0|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Fibronectin, type III (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67822|0.67822	0.2934|0.2934	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.998|.	T|T	0.68838|0.68838	-0.5303|-0.5303	10|5	0.17369|.	T|.	0.5|.	-15.1213|-15.1213	16.0261|16.0261	0.80545|0.80545	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	375;374|.	Q5VTL7;E9PAZ5|.	FNDC7_HUMAN;.|.	R|S	374;375|149	ENSP00000359034:C374R;ENSP00000271311:C375R|.	ENSP00000271311:C375R|.	C|L	+|+	1|2	0|0	FNDC7|FNDC7	109071961|109071961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.907000|0.907000	0.53573|0.53573	7.376000|7.376000	0.79658|0.79658	2.188000|2.188000	0.69820|0.69820	0.459000|0.459000	0.35465|0.35465	TGT|TTG		0.547	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		44	131	0	0	0	0.014410	0	44	131				
TICRR	90381	broad.mit.edu	37	15	90168261	90168261	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr15:90168261C>T	ENST00000268138.7	+	20	4825	c.4720C>T	c.(4720-4722)Cga>Tga	p.R1574*	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Nonsense_Mutation_p.R1573*			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1574					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										TCCCAAACTTCGAATTAAGAA	0.537																																						ENST00000268138.7																			0											c.(4720-4722)Cga>Tga		TOPBP1-interacting checkpoint and replication regulator							68.0	70.0	69.0					15																	90168261		2200	4299	6499	SO:0001587	stop_gained	90381							g.chr15:90168261C>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.4720C>T	15.37:g.90168261C>T	ENSP00000268138:p.Arg1574*					KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Nonsense_Mutation_p.R1573*	p.R1574*							20	4825	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Nonsense_Mutation	SNP	ENST00000268138.7	37	c.4720C>T	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	C	43	10.294418	0.99377	.	.	ENSG00000140534	ENST00000268138	.	.	.	5.36	3.45	0.39498	.	0.246814	0.33161	N	0.005216	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7418	10.4342	0.44426	0.1349:0.7949:0.0:0.0702	.	.	.	.	X	1574	.	ENSP00000268138:R1574X	R	+	1	2	C15orf42	87969265	0.971000	0.33674	0.752000	0.31206	0.642000	0.38348	2.523000	0.45580	0.702000	0.31825	0.655000	0.94253	CGA		0.537	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		32	98	0	0	0	0.019004	0	32	98				
DHX30	22907	broad.mit.edu	37	3	47889378	47889378	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr3:47889378A>G	ENST00000445061.1	+	14	2625	c.2218A>G	c.(2218-2220)Atc>Gtc	p.I740V	DHX30_ENST00000446256.2_Missense_Mutation_p.I701V|DHX30_ENST00000348968.4_Missense_Mutation_p.I712V|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Missense_Mutation_p.I768V	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	740	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TTCCATCACAATCAATGACAT	0.547																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(2101-2103)Atc>Gtc		DEAH (Asp-Glu-Ala-His) box helicase 30							145.0	120.0	128.0					3																	47889378		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47889378A>G	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.2218A>G	3.37:g.47889378A>G	ENSP00000405620:p.Ile740Val					DHX30_ENST00000457607.1_Missense_Mutation_p.I768V|DHX30_ENST00000348968.4_Missense_Mutation_p.I712V|DHX30_ENST00000445061.1_Missense_Mutation_p.I740V	p.I701V	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	15	2673	+			740			Helicase C-terminal.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.2101A>G	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	A	9.002	0.980341	0.18812	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.73	1.24	0.21308	Helicase, C-terminal (3);	0.258038	0.36101	N	0.002782	T	0.64875	0.2638	L	0.48642	1.525	0.32884	D	0.51091	B;B	0.27416	0.011;0.178	B;B	0.32724	0.028;0.151	T	0.61623	-0.7025	10	0.23302	T	0.38	.	9.6474	0.39877	0.6279:0.0:0.3721:0.0	.	740;701	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	V	701;740;712;768	ENSP00000392601:I701V;ENSP00000405620:I740V;ENSP00000343442:I712V;ENSP00000394682:I768V	ENSP00000343442:I712V	I	+	1	0	DHX30	47864382	0.934000	0.31675	0.027000	0.17364	0.744000	0.42396	1.923000	0.40055	0.008000	0.14787	-0.468000	0.05107	ATC		0.547	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		23	39	0	0	0	0.014323	0	23	39				
GBP3	2635	broad.mit.edu	37	1	89481070	89481070	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:89481070G>C	ENST00000370481.4	-	3	438	c.218C>G	c.(217-219)tCt>tGt	p.S73C	GBP3_ENST00000475853.2_5'UTR	NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	118	GB1/RHD3-type G.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TTTGGTGTGAGATTTCACTGT	0.483																																						ENST00000370481.4																			0				breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26						c.(217-219)tCt>tGt		guanylate binding protein 3							129.0	123.0	125.0					1																	89481070		2203	4300	6503	SO:0001583	missense	2635					integral to membrane	GTP binding|GTPase activity	g.chr1:89481070G>C	BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.218C>G	1.37:g.89481070G>C	ENSP00000359512:p.Ser73Cys					GBP3_ENST00000475853.2_5'UTR	p.S73C	NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN		all cancers(265;0.0103)|Epithelial(280;0.0293)	3	438	-		Lung NSC(277;0.123)	73					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	ENST00000370481.4	37	c.218C>G	CCDS717.2	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838360	0.51057	.	.	ENSG00000117226	ENST00000370482;ENST00000370481;ENST00000235878	T;T	0.64260	-0.09;-0.09	3.27	3.27	0.37495	Guanylate-binding protein, N-terminal (1);	0.319066	0.29424	N	0.012181	T	0.81168	0.4766	H	0.97315	3.98	0.30600	N	0.760648	D	0.89917	1.0	D	0.74348	0.983	T	0.79907	-0.1605	10	0.87932	D	0	.	12.3834	0.55320	0.0:0.0:1.0:0.0	.	73	Q9H0R5	GBP3_HUMAN	C	73	ENSP00000359512:S73C;ENSP00000235878:S73C	ENSP00000235878:S73C	S	-	2	0	GBP3	89253658	1.000000	0.71417	0.979000	0.43373	0.443000	0.32047	7.349000	0.79376	1.835000	0.53391	0.404000	0.27445	TCT		0.483	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284		33	98	0	0	0	0.017118	0	33	98				
SFI1	9814	broad.mit.edu	37	22	32009447	32009447	+	Silent	SNP	G	G	T	rs200582124	byFrequency	TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr22:32009447G>T	ENST00000400288.2	+	26	2778	c.2673G>T	c.(2671-2673)acG>acT	p.T891T	SFI1_ENST00000432498.1_Silent_p.T860T|SFI1_ENST00000443326.1_Silent_p.T809T|SFI1_ENST00000400289.1_Silent_p.T809T|SFI1_ENST00000443011.1_Silent_p.T738T|SFI1_ENST00000540643.1_Silent_p.T836T|SFI1_ENST00000414585.1_Silent_p.T738T	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	891					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						AGGGTGCCACGCGGCTCCTGC	0.682																																						ENST00000432498.1																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.(2578-2580)acG>acT		Sfi1 homolog, spindle assembly associated (yeast)							16.0	20.0	19.0					22																	32009447		1987	4170	6157	SO:0001819	synonymous_variant	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:32009447G>T	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.2673G>T	22.37:g.32009447G>T						SFI1_ENST00000443011.1_Silent_p.T738T|SFI1_ENST00000400288.2_Silent_p.T891T|SFI1_ENST00000540643.1_Silent_p.T836T|SFI1_ENST00000414585.1_Silent_p.T738T|SFI1_ENST00000400289.1_Silent_p.T809T|SFI1_ENST00000443326.1_Silent_p.T809T	p.T860T	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN			25	2973	+			891					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Silent	SNP	ENST00000400288.2	37	c.2580G>T	CCDS43004.1																																																																																				0.682	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		7	23	1	0	2.0095e-06	0.029380	2.15451e-06	7	23				
AVPR1A	552	broad.mit.edu	37	12	63544069	63544069	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr12:63544069G>A	ENST00000299178.2	-	1	653	c.548C>T	c.(547-549)aCg>aTg	p.T183M		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	183					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GTACTGCGGCGTGCTCAGCAC	0.642																																						ENST00000299178.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(547-549)aCg>aTg		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						52.0	54.0	53.0					12																	63544069		2202	4299	6501	SO:0001583	missense	552				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63544069G>A	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.548C>T	12.37:g.63544069G>A	ENSP00000299178:p.Thr183Met						p.T183M	NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	653	-			183						Missense_Mutation	SNP	ENST00000299178.2	37	c.548C>T	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286603	0.40494	.	.	ENSG00000166148	ENST00000299178	T	0.71698	-0.59	5.19	3.32	0.38043	GPCR, rhodopsin-like superfamily (1);	0.404855	0.28538	N	0.014999	T	0.67183	0.2866	L	0.58925	1.835	0.32243	N	0.572451	P	0.38455	0.632	B	0.43103	0.408	T	0.71248	-0.4649	9	.	.	.	-5.8524	8.1891	0.31357	0.2459:0.0:0.7541:0.0	.	183	P37288	V1AR_HUMAN	M	183	ENSP00000299178:T183M	.	T	-	2	0	AVPR1A	61830336	0.000000	0.05858	1.000000	0.80357	0.728000	0.41692	0.061000	0.14366	1.151000	0.42436	0.455000	0.32223	ACG		0.642	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			29	50	0	0	0	0.037714	0	29	50				
PLXNA4	91584	broad.mit.edu	37	7	132070014	132070014	+	Intron	SNP	G	G	A	rs183271681	byFrequency	TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr7:132070014G>A	ENST00000359827.3	-	4	2334				PLXNA4_ENST00000423507.2_Missense_Mutation_p.T471M|PLXNA4_ENST00000321063.4_Intron			Q9HCM2	PLXA4_HUMAN	plexin A4						anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCGGGGTCCCGTCTGTAGCTC	0.493													G|||	9	0.00179712	0.0	0.0043	5008	,	,		18729	0.001		0.005	False		,,,				2504	0.0					ENST00000423507.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(1411-1413)aCg>aTg		plexin A4		G	MET/THR,	6,3842		0,6,1918	78.0	79.0	79.0		1412,	-0.5	0.0	7		79	61,8215		1,59,4078	yes	missense,intron	PLXNA4	NM_001105543.1,NM_020911.1	81,	1,65,5996	AA,AG,GG		0.7371,0.1559,0.5526	,	471/493,	132070014	67,12057	1924	4138	6062	SO:0001627	intron_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132070014G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1372-87033C>T	7.37:g.132070014G>A						PLXNA4_ENST00000359827.3_Intron|PLXNA4_ENST00000321063.4_Intron	p.T471M	NM_001105543.1	NP_001099013.1	Q9HCM2	PLXA4_HUMAN			4	1546	-			1019			Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.1412C>T	CCDS43646.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	2	0.002638522427440633	G	14.55	2.567923	0.45798	0.001559	0.007371	ENSG00000221866	ENST00000423507	T	0.02498	4.27	5.11	-0.499	0.12015	.	.	.	.	.	T	0.03915	0.0110	.	.	.	0.09310	N	1	D	0.69078	0.997	P	0.57324	0.818	T	0.34976	-0.9807	8	0.36615	T	0.2	.	4.6755	0.12710	0.5162:0.3101:0.1738:0.0	.	471	Q9HCM2-2	.	M	471	ENSP00000392772:T471M	ENSP00000392772:T471M	T	-	2	0	PLXNA4	131720554	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.689000	0.05144	-0.328000	0.08539	-0.339000	0.08088	ACG		0.493	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		3	36	0	0	0	0.004672	0	3	36				
ERCC1	2067	broad.mit.edu	37	19	45916913	45916913	+	Intron	SNP	G	G	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr19:45916913G>T	ENST00000300853.3	-	9	1435				ERCC1_ENST00000423698.2_Intron|ERCC1_ENST00000013807.5_Missense_Mutation_p.P289T|ERCC1_ENST00000589165.1_Intron|ERCC1_ENST00000588738.1_Intron|ERCC1_ENST00000340192.7_Intron|ERCC1_ENST00000591636.1_Intron	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1						cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CAACTCCTTGGGTTCTTTCCC	0.512								Nucleotide excision repair (NER)																														ENST00000013807.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15						c.(865-867)Cca>Aca	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)							117.0	124.0	122.0					19																	45916913		2203	4300	6503	SO:0001627	intron_variant	2067				mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding	g.chr19:45916913G>T		CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"""excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"""			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.843+21C>A	19.37:g.45916913G>T						ERCC1_ENST00000340192.7_Intron|ERCC1_ENST00000591636.1_Intron|ERCC1_ENST00000588738.1_Intron|ERCC1_ENST00000300853.3_Intron|ERCC1_ENST00000423698.2_Intron|ERCC1_ENST00000589165.1_Intron	p.P289T	NM_202001.2	NP_973730.1	P07992	ERCC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0247)	8	1056	-		Ovarian(192;0.051)|all_neural(266;0.112)	0					B2RC01|B3KRR0|Q7Z7F5|Q96S40	Missense_Mutation	SNP	ENST00000300853.3	37	c.865C>A	CCDS12662.1	.	.	.	.	.	.	.	.	.	.	G	7.027	0.559794	0.13436	.	.	ENSG00000012061	ENST00000013807	T	0.41758	0.99	3.16	-3.15	0.05233	.	.	.	.	.	T	0.25901	0.0631	.	.	.	0.09310	N	1	B	0.26400	0.148	B	0.21360	0.034	T	0.21690	-1.0238	8	0.72032	D	0.01	.	4.694	0.12795	0.314:0.0:0.5013:0.1847	.	289	Q7Z7F5	.	T	289	ENSP00000013807:P289T	ENSP00000013807:P289T	P	-	1	0	ERCC1	50608753	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-0.182000	0.09726	-0.675000	0.05246	-0.300000	0.09419	CCA		0.512	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1	NM_001983		44	124	1	0	5.34276e-22	0.014410	6.46101e-22	44	124				
ST18	9705	broad.mit.edu	37	8	53044649	53044649	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr8:53044649C>G	ENST00000276480.7	-	22	3218	c.2535G>C	c.(2533-2535)aaG>aaC	p.K845N		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	845					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCTTCTGTCTCTTGGCAGCCA	0.522																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(2533-2535)aaG>aaC		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							123.0	107.0	113.0					8																	53044649		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53044649C>G	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2535G>C	8.37:g.53044649C>G	ENSP00000276480:p.Lys845Asn						p.K845N	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			22	3218	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	845					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.2535G>C	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657375	0.67586	.	.	ENSG00000147488	ENST00000276480	T	0.56444	0.46	5.37	0.346	0.16017	.	0.000000	0.85682	D	0.000000	T	0.68348	0.2991	M	0.78285	2.405	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.68473	-0.5399	10	0.62326	D	0.03	-23.2574	10.7564	0.46239	0.0:0.6667:0.0:0.3333	.	845	O60284	ST18_HUMAN	N	845	ENSP00000276480:K845N	ENSP00000276480:K845N	K	-	3	2	ST18	53207202	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	0.807000	0.27140	0.056000	0.16144	0.591000	0.81541	AAG		0.522	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			14	60	0	0	0	0.016723	0	14	60				
CASZ1	54897	broad.mit.edu	37	1	10720212	10720212	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:10720212G>A	ENST00000377022.3	-	6	1204	c.887C>T	c.(886-888)tCg>tTg	p.S296L	CASZ1_ENST00000478728.2_5'Flank|CASZ1_ENST00000344008.5_Missense_Mutation_p.S296L	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	296					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		ACTGCTGTGCGACGGCAGGGG	0.657																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(886-888)tCg>tTg		castor zinc finger 1							54.0	61.0	59.0					1																	10720212		2203	4300	6503	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10720212G>A	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.887C>T	1.37:g.10720212G>A	ENSP00000366221:p.Ser296Leu					CASZ1_ENST00000344008.5_Missense_Mutation_p.S296L	p.S296L	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	6	1204	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	296					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.887C>T	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250020	0.39797	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.52	4.52	0.55395	.	0.276731	0.36972	N	0.002310	T	0.45836	0.1362	L	0.27053	0.805	0.35064	D	0.761842	D;D;D;P	0.57899	0.981;0.959;0.959;0.948	P;B;B;B	0.44518	0.452;0.321;0.321;0.32	T	0.64032	-0.6502	9	0.87932	D	0	-11.382	17.6417	0.88138	0.0:0.0:1.0:0.0	.	320;296;296;296	B7Z1S3;B3KRV8;Q86V15-2;Q86V15	.;.;.;CASZ1_HUMAN	L	296	.	ENSP00000339445:S296L	S	-	2	0	CASZ1	10642799	1.000000	0.71417	0.397000	0.26308	0.247000	0.25773	9.078000	0.94023	2.242000	0.73789	0.491000	0.48974	TCG		0.657	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		85	68	0	0	0	0.014410	0	85	68				
PXDNL	137902	broad.mit.edu	37	8	52336282	52336282	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr8:52336282G>T	ENST00000356297.4	-	14	1748	c.1648C>A	c.(1648-1650)Cag>Aag	p.Q550K	PXDNL_ENST00000543296.1_Missense_Mutation_p.Q550K	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	550	Ig-like C2-type 4.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCAGTAATCTGCACACCTTCC	0.418																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(1648-1650)Cag>Aag		peroxidasin homolog (Drosophila)-like							92.0	100.0	97.0					8																	52336282		2147	4263	6410	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52336282G>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1648C>A	8.37:g.52336282G>T	ENSP00000348645:p.Gln550Lys					PXDNL_ENST00000543296.1_Missense_Mutation_p.Q550K	p.Q550K	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			14	1748	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	550			Ig-like C2-type 4.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.1648C>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	5.870	0.344590	0.11126	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.65732	-0.17;-0.17	4.37	2.54	0.30619	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44074	0.1276	N	0.20610	0.595	0.35811	D	0.823893	B	0.34290	0.447	B	0.40329	0.326	T	0.37979	-0.9682	9	0.09084	T	0.74	.	7.1449	0.25577	0.217:0.0:0.783:0.0	.	550	A1KZ92	PXDNL_HUMAN	K	550	ENSP00000348645:Q550K;ENSP00000444865:Q550K	ENSP00000348645:Q550K	Q	-	1	0	PXDNL	52498835	1.000000	0.71417	0.003000	0.11579	0.052000	0.14988	4.490000	0.60319	0.380000	0.24823	0.650000	0.86243	CAG		0.418	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		12	43	1	0	7.03913e-09	0.013537	7.70599e-09	12	43				
RBBP6	5930	broad.mit.edu	37	16	24551988	24551988	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr16:24551988A>G	ENST00000319715.4	+	1	473	c.41A>G	c.(40-42)tAt>tGt	p.Y14C	RBBP6_ENST00000348022.2_Missense_Mutation_p.Y14C|RBBP6_ENST00000452655.2_Missense_Mutation_p.Y14C|RBBP6_ENST00000381039.3_Missense_Mutation_p.Y14C	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	14	DWNN. {ECO:0000255|PROSITE- ProRule:PRU00612}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAACTCAACTATGATACCGTC	0.473																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(40-42)tAt>tGt		retinoblastoma binding protein 6							133.0	120.0	125.0					16																	24551988		2197	4300	6497	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24551988A>G		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.41A>G	16.37:g.24551988A>G	ENSP00000317872:p.Tyr14Cys					RBBP6_ENST00000381039.3_Missense_Mutation_p.Y14C|RBBP6_ENST00000452655.2_Missense_Mutation_p.Y14C|RBBP6_ENST00000348022.2_Missense_Mutation_p.Y14C	p.Y14C	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	1	473	+			14			DWNN.		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.41A>G	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.355317	0.61293	.	.	ENSG00000122257	ENST00000381039;ENST00000452655;ENST00000319715;ENST00000348022	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.44	5.44	0.79542	DWNN domain (2);	0.000000	0.85682	D	0.000000	T	0.68007	0.2954	M	0.85859	2.78	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.83275	0.994;0.994;0.996;0.971	T	0.73911	-0.3833	10	0.72032	D	0.01	-12.4293	14.3191	0.66473	1.0:0.0:0.0:0.0	.	14;14;14;14	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9;Q7Z6E9-3	.;.;RBBP6_HUMAN;.	C	14	ENSP00000370427:Y14C;ENSP00000390537:Y14C;ENSP00000317872:Y14C;ENSP00000316291:Y14C	ENSP00000317872:Y14C	Y	+	2	0	RBBP6	24459489	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.623000	0.61247	2.063000	0.61619	0.533000	0.62120	TAT		0.473	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		20	72	0	0	0	0.012319	0	20	72				
ZPLD1	131368	broad.mit.edu	37	3	102171893	102171893	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr3:102171893C>A	ENST00000491959.1	+	10	1119	c.237C>A	c.(235-237)tgC>tgA	p.C79*	ZPLD1_ENST00000306176.1_Nonsense_Mutation_p.C95*|ZPLD1_ENST00000466937.1_Nonsense_Mutation_p.C79*			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	79	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ACTCCCACTGCAGAGGGTTCA	0.453																																						ENST00000306176.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						c.(283-285)tgC>tgA		zona pellucida-like domain containing 1							100.0	94.0	96.0					3																	102171893		2203	4300	6503	SO:0001587	stop_gained	131368					integral to membrane		g.chr3:102171893C>A	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.237C>A	3.37:g.102171893C>A	ENSP00000420265:p.Cys79*					ZPLD1_ENST00000466937.1_Nonsense_Mutation_p.C79*|ZPLD1_ENST00000491959.1_Nonsense_Mutation_p.C79*	p.C95*	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN			3	385	+			79			ZP.		Q49AS1|Q8WU36	Nonsense_Mutation	SNP	ENST00000491959.1	37	c.285C>A		.	.	.	.	.	.	.	.	.	.	C	38	7.112505	0.98070	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	.	.	.	5.99	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.4336	15.2099	0.73214	0.0:0.933:0.0:0.067	.	.	.	.	X	79;95;79	.	ENSP00000307801:C95X	C	+	3	2	ZPLD1	103654583	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.840000	0.48215	1.549000	0.49425	-0.136000	0.14681	TGC		0.453	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		74	36	1	0	4.09166e-32	0.014410	5.06586e-32	74	36				
ZNRF4	148066	broad.mit.edu	37	19	5455922	5455922	+	Silent	SNP	C	C	T	rs201137254		TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr19:5455922C>T	ENST00000222033.4	+	1	497	c.420C>T	c.(418-420)aaC>aaT	p.N140N		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	140	PA.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		AGCCAGCCAACGCGTGCCATC	0.672													C|||	1	0.000199681	0.0	0.0014	5008	,	,		8432	0.0		0.0	False		,,,				2504	0.0					ENST00000222033.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(418-420)aaC>aaT		zinc and ring finger 4							42.0	50.0	47.0					19																	5455922		2120	4227	6347	SO:0001819	synonymous_variant	148066					integral to membrane	zinc ion binding	g.chr19:5455922C>T	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.420C>T	19.37:g.5455922C>T							p.N140N	NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	497	+			140			PA.		A8K886|O75866	Silent	SNP	ENST00000222033.4	37	c.420C>T	CCDS42475.1																																																																																				0.672	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		22	67	0	0	0	0.027356	0	22	67				
BEND6	221336	broad.mit.edu	37	6	56857219	56857219	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr6:56857219C>T	ENST00000370746.3	+	3	433	c.164C>T	c.(163-165)tCc>tTc	p.S55F	BEND6_ENST00000370748.3_Missense_Mutation_p.S55F|BEND6_ENST00000370750.2_Missense_Mutation_p.S55F|BEND6_ENST00000370745.1_Missense_Mutation_p.S55F	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	55					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						GGTGAAAGCTCCAGTGAGGAT	0.403																																						ENST00000370748.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						c.(163-165)tCc>tTc		BEN domain containing 6							168.0	168.0	168.0					6																	56857219		1830	4078	5908	SO:0001583	missense	221336							g.chr6:56857219C>T	AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.164C>T	6.37:g.56857219C>T	ENSP00000359782:p.Ser55Phe					BEND6_ENST00000370750.2_Missense_Mutation_p.S55F|BEND6_ENST00000370745.1_Missense_Mutation_p.S55F|BEND6_ENST00000370746.3_Missense_Mutation_p.S55F	p.S55F			Q5SZJ8	BEND6_HUMAN			3	599	+			55					Q4G0W8|Q8N662|Q96NS6	Missense_Mutation	SNP	ENST00000370746.3	37	c.164C>T	CCDS43476.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.710273	0.68730	.	.	ENSG00000151917	ENST00000322055;ENST00000370750;ENST00000370748;ENST00000370746;ENST00000370745	.	.	.	4.95	4.01	0.46588	.	0.214204	0.31472	N	0.007592	T	0.53012	0.1770	L	0.27053	0.805	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.59332	-0.7474	9	0.87932	D	0	-2.3509	10.9037	0.47067	0.0:0.6973:0.3027:0.0	.	55	Q5SZJ8	BEND6_HUMAN	F	55	.	ENSP00000322773:S55F	S	+	2	0	BEND6	56965178	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.218000	0.51192	2.456000	0.83038	0.655000	0.94253	TCC		0.403	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	NM_152731		55	209	0	0	0	0.014410	0	55	209				
WDR5B	54554	broad.mit.edu	37	3	122133906	122133906	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr3:122133906C>T	ENST00000330689.4	-	1	976	c.470G>A	c.(469-471)gGa>gAa	p.G157E	RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	157										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		GAGACACTTTCCTGTTTTCAC	0.403																																						ENST00000330689.4																			0				kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13						c.(469-471)gGa>gAa		WD repeat domain 5B							80.0	75.0	77.0					3																	122133906		2203	4300	6503	SO:0001583	missense	54554							g.chr3:122133906C>T	AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"""WD repeat domain containing"""	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.470G>A	3.37:g.122133906C>T	ENSP00000330381:p.Gly157Glu						p.G157E	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0704)	1	976	-			157					B2RCM9|Q9NUL4	Missense_Mutation	SNP	ENST00000330689.4	37	c.470G>A	CCDS3012.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057274	0.76074	.	.	ENSG00000196981	ENST00000330689	T	0.63096	-0.02	4.58	4.58	0.56647	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80742	0.4681	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83931	0.0306	10	0.72032	D	0.01	.	15.2729	0.73720	0.0:1.0:0.0:0.0	.	157	Q86VZ2	WDR5B_HUMAN	E	157	ENSP00000330381:G157E	ENSP00000330381:G157E	G	-	2	0	WDR5B	123616596	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	5.032000	0.64140	2.540000	0.85666	0.462000	0.41574	GGA		0.403	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	NM_019069		22	81	0	0	0	0.010504	0	22	81				
ZNF543	125919	broad.mit.edu	37	19	57839395	57839395	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr19:57839395G>A	ENST00000321545.4	+	4	910	c.565G>A	c.(565-567)Gat>Aat	p.D189N		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	189					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)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ACCAGTTACAGATGCCTTGAT	0.403																																						ENST00000321545.4																			0				breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(565-567)Gat>Aat		zinc finger protein 543							100.0	98.0	99.0					19																	57839395		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57839395G>A	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.565G>A	19.37:g.57839395G>A	ENSP00000322545:p.Asp189Asn						p.D189N	NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	910	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	189					Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.565G>A	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	G	6.557	0.471073	0.12461	.	.	ENSG00000178229	ENST00000321545	T	0.06768	3.26	2.49	-0.959	0.10343	.	.	.	.	.	T	0.06872	0.0175	L	0.39898	1.24	0.09310	N	1	B	0.13145	0.007	B	0.14023	0.01	T	0.36311	-0.9753	9	0.39692	T	0.17	.	6.5589	0.22476	0.3878:0.0:0.6122:0.0	.	189	Q08ER8	ZN543_HUMAN	N	189	ENSP00000322545:D189N	ENSP00000322545:D189N	D	+	1	0	ZNF543	62531207	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.363000	0.07593	-0.124000	0.11724	0.561000	0.74099	GAT		0.403	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		29	81	0	0	0	0.045705	0	29	81				
CCDC40	55036	broad.mit.edu	37	17	78063685	78063685	+	Splice_Site	SNP	T	T	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr17:78063685T>G	ENST00000397545.4	+	17	2859		c.e17+2		CCDC40_ENST00000573903.1_Splice_Site|CCDC40_ENST00000374877.3_Splice_Site	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40						axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGATGAAGGTGAGGGGAGGA	0.627																																						ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.e17+2		coiled-coil domain containing 40							30.0	32.0	31.0					17																	78063685		1979	4149	6128	SO:0001630	splice_region_variant	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78063685T>G	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.2832+2T>G	17.37:g.78063685T>G						CCDC40_ENST00000374877.3_Splice_Site|CCDC40_ENST00000573903.1_Splice_Site		NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		17	2859	+	all_neural(118;0.167)							A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Splice_Site	SNP	ENST00000397545.4	37		CCDS42395.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.582046	0.65992	.	.	ENSG00000141519	ENST00000374877;ENST00000397545	.	.	.	4.35	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7972	0.63177	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC40	75678280	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	6.577000	0.74027	1.741000	0.51731	0.421000	0.28195	.		0.627	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082	Intron	10	32	0	0	0	0.006214	0	10	32				
AHSG	197	broad.mit.edu	37	3	186338468	186338468	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr3:186338468G>A	ENST00000273784.5	+	7	932	c.856G>A	c.(856-858)Gca>Aca	p.A286T	AHSG_ENST00000411641.2_Missense_Mutation_p.A285T	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	285					acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)	p.A285T(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TCCACTTGGCGCACCTGGACT	0.642																																						ENST00000411641.2																			2	Substitution - Missense(2)	p.A285T(2)	large_intestine(1)|prostate(1)	central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22						c.(853-855)Gca>Aca		alpha-2-HS-glycoprotein							110.0	114.0	113.0					3																	186338468		2203	4300	6503	SO:0001583	missense	197				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr3:186338468G>A	D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.856G>A	3.37:g.186338468G>A	ENSP00000273784:p.Ala286Thr					AHSG_ENST00000273784.5_Missense_Mutation_p.A286T	p.A285T			P02765	FETUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)	7	1072	+	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		285					A8K9N6|B2R7G1|O14961|O14962|Q9P152	Missense_Mutation	SNP	ENST00000273784.5	37	c.853G>A		.	.	.	.	.	.	.	.	.	.	g	8.418	0.845807	0.16963	.	.	ENSG00000145192	ENST00000411641;ENST00000541510;ENST00000273784	T;T	0.05199	3.48;3.48	5.32	-4.37	0.03633	.	0.939020	0.08935	N	0.872506	T	0.03095	0.0091	N	0.08118	0	0.09310	N	1	B;B;B	0.18166	0.026;0.0;0.001	B;B;B	0.10450	0.005;0.0;0.0	T	0.47674	-0.9099	10	0.21014	T	0.42	-0.2865	11.5864	0.50920	0.2477:0.1865:0.5658:0.0	.	351;285;286	F5H0Q5;P02765;C9JV77	.;FETUA_HUMAN;.	T	285;351;286	ENSP00000393887:A285T;ENSP00000273784:A286T	ENSP00000273784:A286T	A	+	1	0	AHSG	187821162	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.463000	0.02361	-0.270000	0.09285	-1.467000	0.01014	GCA		0.642	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	NM_001622		126	83	0	0	0	0.014410	0	126	83				
YTHDC2	64848	broad.mit.edu	37	5	112868639	112868639	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr5:112868639C>T	ENST00000161863.4	+	5	952	c.739C>T	c.(739-741)Caa>Taa	p.Q247*	YTHDC2_ENST00000515883.1_Nonsense_Mutation_p.Q247*	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	247	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		ATTTTGTACTCAACCAAGACG	0.398																																						ENST00000161863.4																			0				NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(739-741)Caa>Taa		YTH domain containing 2							104.0	111.0	108.0					5																	112868639		2202	4300	6502	SO:0001587	stop_gained	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112868639C>T	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.739C>T	5.37:g.112868639C>T	ENSP00000161863:p.Gln247*					YTHDC2_ENST00000515883.1_Nonsense_Mutation_p.Q247*	p.Q247*	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	5	952	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	247			Helicase ATP-binding.		B2RP66	Nonsense_Mutation	SNP	ENST00000161863.4	37	c.739C>T	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	C	39	7.421815	0.98275	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	.	.	.	5.64	5.64	0.86602	.	0.057118	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.878	0.88830	0.0:1.0:0.0:0.0	.	.	.	.	X	247;247;157	.	ENSP00000161863:Q247X	Q	+	1	0	YTHDC2	112896538	1.000000	0.71417	0.993000	0.49108	0.950000	0.60333	7.746000	0.85057	2.660000	0.90430	0.467000	0.42956	CAA		0.398	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		4	74	0	0	0	0.014758	0	4	74				
BRE	9577	broad.mit.edu	37	2	28210901	28210901	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr2:28210901G>A	ENST00000342045.2	+	5	388	c.247G>A	c.(247-249)Gat>Aat	p.D83N	BRE_ENST00000379624.1_Missense_Mutation_p.D83N|BRE_ENST00000603461.1_3'UTR|BRE_ENST00000361704.2_Missense_Mutation_p.D83N|BRE_ENST00000379632.2_Missense_Mutation_p.D83N|BRE_ENST00000344773.2_Missense_Mutation_p.D83N	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					ACTGCCTCCCGATTTTATCTT	0.398																																						ENST00000344773.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23						c.(247-249)Gat>Aat		brain and reproductive organ-expressed (TNFRSF1A modulator)							221.0	242.0	235.0					2																	28210901		2203	4300	6503	SO:0001583	missense	9577				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	g.chr2:28210901G>A	AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.247G>A	2.37:g.28210901G>A	ENSP00000339371:p.Asp83Asn					BRE_ENST00000603461.1_3'UTR|BRE_ENST00000379624.1_Missense_Mutation_p.D83N|BRE_ENST00000379632.2_Missense_Mutation_p.D83N|BRE_ENST00000361704.2_Missense_Mutation_p.D83N|BRE_ENST00000342045.2_Missense_Mutation_p.D83N	p.D83N	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN			4	385	+	Acute lymphoblastic leukemia(172;0.155)		83			UEV-like 1.			Missense_Mutation	SNP	ENST00000342045.2	37	c.247G>A	CCDS1763.1	.	.	.	.	.	.	.	.	.	.	G	32	5.152248	0.94645	.	.	ENSG00000158019	ENST00000436924;ENST00000344773;ENST00000379624;ENST00000342045;ENST00000379632;ENST00000361704;ENST00000379629	T	0.41065	1.01	5.7	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.63988	0.2558	M	0.76170	2.325	0.58432	D	0.999998	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.87578	0.988;0.998;0.997;0.982	T	0.68522	-0.5386	10	0.87932	D	0	-21.1124	13.4684	0.61268	0.0762:0.0:0.9238:0.0	.	83;83;83;83	Q9NXR7-1;Q9NXR7;Q9NXR7-4;Q9NXR7-3	.;BRE_HUMAN;.;.	N	83	ENSP00000368950:D83N	ENSP00000339371:D83N	D	+	1	0	BRE	28064405	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	8.836000	0.92105	1.415000	0.47037	0.591000	0.81541	GAT		0.398	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215114.1			94	326	0	0	0	0.014410	0	94	326				
ABCC8	6833	broad.mit.edu	37	11	17428479	17428479	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr11:17428479C>T	ENST00000389817.3	-	25	3186	c.3118G>A	c.(3118-3120)Gcc>Acc	p.A1040T	ABCC8_ENST00000302539.4_Missense_Mutation_p.A1041T			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1040	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	AGGGTCAGGGCGCTGTCGGTC	0.652																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(3121-3123)Gcc>Acc		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						59.0	62.0	61.0					11																	17428479		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17428479C>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3118G>A	11.37:g.17428479C>T	ENSP00000374467:p.Ala1040Thr					ABCC8_ENST00000389817.3_Missense_Mutation_p.A1040T	p.A1041T	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	25	3246	-			1040			ABC transmembrane type-1 2.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.3121G>A	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238797	0.22711	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.94758	-3.51;-3.51	5.67	4.62	0.57501	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.203234	0.43579	N	0.000560	D	0.88258	0.6388	N	0.25485	0.75	0.24694	N	0.993299	B	0.24258	0.1	B	0.20384	0.029	T	0.74677	-0.3585	10	0.15499	T	0.54	.	10.9534	0.47343	0.0:0.8938:0.0:0.1062	.	1040	Q09428	ABCC8_HUMAN	T	1040;1041	ENSP00000374467:A1040T;ENSP00000303960:A1041T	ENSP00000303960:A1041T	A	-	1	0	ABCC8	17385055	0.103000	0.21917	0.968000	0.41197	0.493000	0.33554	0.440000	0.21592	1.265000	0.44215	0.655000	0.94253	GCC		0.652	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		6	87	0	0	0	0.021553	0	6	87				
FNDC1	84624	broad.mit.edu	37	6	159653481	159653481	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr6:159653481A>G	ENST00000297267.9	+	11	2137	c.1937A>G	c.(1936-1938)gAc>gGc	p.D646G	FNDC1_ENST00000340366.6_Missense_Mutation_p.D583G	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	646					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GACTTGGTGGACTCAGACGAA	0.697																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(1936-1938)gAc>gGc		fibronectin type III domain containing 1							35.0	40.0	38.0					6																	159653481		2068	4177	6245	SO:0001583	missense	84624					extracellular region		g.chr6:159653481A>G	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1937A>G	6.37:g.159653481A>G	ENSP00000297267:p.Asp646Gly					FNDC1_ENST00000340366.6_Missense_Mutation_p.D583G	p.D646G	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2137	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	646					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.1937A>G	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	A	9.259	1.042821	0.19748	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.10005	2.92;3.51	5.21	-1.11	0.09840	.	1.093910	0.06854	N	0.797796	T	0.00998	0.0033	N	0.02916	-0.46	0.09310	N	1	B;B	0.13594	0.008;0.005	B;B	0.14578	0.011;0.005	T	0.48091	-0.9065	10	0.21014	T	0.42	-5.053	3.1172	0.06379	0.5257:0.0:0.189:0.2853	.	583;646	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	G	646;583	ENSP00000297267:D646G;ENSP00000342460:D583G	ENSP00000297267:D646G	D	+	2	0	FNDC1	159573471	0.003000	0.15002	0.000000	0.03702	0.011000	0.07611	-0.190000	0.09615	-0.101000	0.12219	0.533000	0.62120	GAC		0.697	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		9	50	0	0	0	0.006214	0	9	50				
CPA5	93979	broad.mit.edu	37	7	130002807	130002807	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr7:130002807C>T	ENST00000485477.1	+	8	1848	c.719C>T	c.(718-720)cCt>cTt	p.P240L	CPA5_ENST00000355388.3_Missense_Mutation_p.P240L|CPA5_ENST00000466363.2_Missense_Mutation_p.P240L|CPA5_ENST00000461828.1_Missense_Mutation_p.P240L|CPA5_ENST00000431780.2_Missense_Mutation_p.P240L|CPA5_ENST00000474905.1_Missense_Mutation_p.P240L|CPA5_ENST00000393213.3_Missense_Mutation_p.P240L			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	240						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GTCACAAACCCTGATGGGTTT	0.502																																						ENST00000485477.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23						c.(718-720)cCt>cTt		carboxypeptidase A5							76.0	69.0	72.0					7																	130002807		2203	4300	6503	SO:0001583	missense	93979				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130002807C>T	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.719C>T	7.37:g.130002807C>T	ENSP00000420237:p.Pro240Leu					CPA5_ENST00000466363.2_Missense_Mutation_p.P240L|CPA5_ENST00000461828.1_Missense_Mutation_p.P240L|CPA5_ENST00000431780.2_Missense_Mutation_p.P240L|CPA5_ENST00000355388.3_Missense_Mutation_p.P240L|CPA5_ENST00000474905.1_Missense_Mutation_p.P240L|CPA5_ENST00000393213.3_Missense_Mutation_p.P240L	p.P240L			Q8WXQ8	CBPA5_HUMAN			8	1848	+	Melanoma(18;0.0435)		240					G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	37	c.719C>T	CCDS5819.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093657	0.76870	.	.	ENSG00000158525	ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000431780;ENST00000474905;ENST00000393213	T;T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86	5.63	5.63	0.86233	Peptidase M14, carboxypeptidase A (2);	0.000000	0.64402	D	0.000011	T	0.66626	0.2808	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77935	-0.2401	9	.	.	.	.	18.6978	0.91607	0.0:1.0:0.0:0.0	.	240;240	G3V0G8;Q8WXQ8	.;CBPA5_HUMAN	L	240	ENSP00000347549:P240L;ENSP00000418183:P240L;ENSP00000419025:P240L;ENSP00000420237:P240L;ENSP00000393045:P240L;ENSP00000417314:P240L;ENSP00000376907:P240L	.	P	+	2	0	CPA5	129790043	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	6.000000	0.70678	2.652000	0.90054	0.655000	0.94253	CCT		0.502	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		3	41	0	0	0	0.009096	0	3	41				
RAB1A	5861	broad.mit.edu	37	2	65318142	65318142	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr2:65318142A>G	ENST00000409784.3	-	4	453	c.263T>C	c.(262-264)aTa>aCa	p.I88T	RAB1A_ENST00000409892.1_Intron|RAB1A_ENST00000398529.3_Intron|RAB1A_ENST00000260638.8_Intron|RAB1A_ENST00000494188.1_Intron|RAB1A_ENST00000409751.1_Missense_Mutation_p.I56T|RAB1A_ENST00000356214.7_Intron	NM_004161.4	NP_004152.1	P62820	RAB1A_HUMAN	RAB1A, member RAS oncogene family	88					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cargo loading into COPII-coated vesicle (GO:0090110)|cell migration (GO:0016477)|defense response to bacterium (GO:0042742)|endocytosis (GO:0006897)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|growth hormone secretion (GO:0030252)|GTP catabolic process (GO:0006184)|interleukin-8 secretion (GO:0072606)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|positive regulation of glycoprotein metabolic process (GO:1903020)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle transport along microtubule (GO:0047496)|vesicle-mediated transport (GO:0016192)|virion assembly (GO:0019068)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|melanosome (GO:0042470)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|lung(3)|prostate(1)	6						ATACACAACTATGATGCCATG	0.398																																						ENST00000409784.3																			0				endometrium(1)|kidney(1)|lung(3)|prostate(1)	6						c.(262-264)aTa>aCa		RAB1A, member RAS oncogene family							101.0	96.0	98.0					2																	65318142		1903	4136	6039	SO:0001583	missense	5861				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	GTP binding|GTPase activity	g.chr2:65318142A>G	M28209	CCDS46305.1, CCDS46306.1	2p14	2008-02-05		2002-03-17	ENSG00000138069	ENSG00000138069		"""RAB, member RAS oncogene"""	9758	protein-coding gene	gene with protein product	"""Rab GTPase YPT1 homolog (yeast)"""	179508		RAB1		2501306	Standard	NM_004161		Approved	YPT1	uc002sdm.3	P62820	OTTHUMG00000152725	ENST00000409784.3:c.263T>C	2.37:g.65318142A>G	ENSP00000387286:p.Ile88Thr					RAB1A_ENST00000398529.3_Intron|RAB1A_ENST00000494188.1_Intron|RAB1A_ENST00000260638.8_Intron|RAB1A_ENST00000409892.1_Intron|RAB1A_ENST00000356214.7_Intron|RAB1A_ENST00000409751.1_Missense_Mutation_p.I56T	p.I88T	NM_004161.4	NP_004152.1	P62820	RAB1A_HUMAN			4	453	-			88					P11476|Q6FIE7|Q96N61|Q9Y3T2	Missense_Mutation	SNP	ENST00000409784.3	37	c.263T>C	CCDS46306.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.785860	0.90282	.	.	ENSG00000138069	ENST00000409784;ENST00000409751	D;D	0.83163	-1.69;-1.69	5.38	5.38	0.77491	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92662	0.7668	M	0.91406	3.205	0.80722	D	1	D	0.62365	0.991	D	0.81914	0.995	D	0.93675	0.6993	10	0.52906	T	0.07	.	15.6846	0.77400	1.0:0.0:0.0:0.0	.	88	P62820	RAB1A_HUMAN	T	88;56	ENSP00000387286:I88T;ENSP00000386672:I56T	ENSP00000386672:I56T	I	-	2	0	RAB1A	65171646	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.161000	0.67846	0.454000	0.30748	ATA		0.398	RAB1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327572.1	NM_004161		4	26	0	0	0	0.021553	0	4	26				
DCAF4L2	138009	broad.mit.edu	37	8	88886149	88886149	+	Missense_Mutation	SNP	C	C	A	rs541689052		TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr8:88886149C>A	ENST00000319675.3	-	1	147	c.51G>T	c.(49-51)aaG>aaT	p.K17N		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	17										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CTCTGACTGTCTTTTTCTGCT	0.537																																						ENST00000319675.3																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(49-51)aaG>aaT		DDB1 and CUL4 associated factor 4-like 2							66.0	63.0	64.0					8																	88886149		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88886149C>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.51G>T	8.37:g.88886149C>A	ENSP00000316496:p.Lys17Asn						p.K17N	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	147	-			17						Missense_Mutation	SNP	ENST00000319675.3	37	c.51G>T	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	8.258	0.810466	0.16537	.	.	ENSG00000176566	ENST00000319675	T	0.69806	-0.43	1.92	-0.289	0.12851	WD40 repeat-like-containing domain (1);	0.091394	0.64402	D	0.000001	T	0.67692	0.2920	M	0.66939	2.045	0.09310	N	1	P	0.51653	0.947	P	0.52823	0.71	T	0.60994	-0.7152	10	0.72032	D	0.01	.	6.6354	0.22879	0.0:0.6736:0.0:0.3264	.	17	Q8NA75	DC4L2_HUMAN	N	17	ENSP00000316496:K17N	ENSP00000316496:K17N	K	-	3	2	DCAF4L2	88955265	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	-0.374000	0.07484	-0.061000	0.13110	-0.444000	0.05651	AAG		0.537	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		18	52	1	0	3.5997e-14	0.014323	4.20639e-14	18	52				
PRDM2	7799	broad.mit.edu	37	1	14075948	14075948	+	Silent	SNP	C	C	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:14075948C>A	ENST00000235372.7	+	6	1333	c.477C>A	c.(475-477)gcC>gcA	p.A159A	PRDM2_ENST00000343137.4_5'UTR|PRDM2_ENST00000505823.1_5'UTR|PRDM2_ENST00000503842.1_5'UTR|PRDM2_ENST00000413440.1_5'UTR|PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000311066.5_Silent_p.A159A|PRDM2_ENST00000376048.5_Silent_p.A159A	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAGCCAGCGCCCGGAGCAAGC	0.731																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(475-477)gcC>gcA		PR domain containing 2, with ZNF domain							14.0	17.0	16.0					1																	14075948		2195	4286	6481	SO:0001819	synonymous_variant	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14075948C>A	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.477C>A	1.37:g.14075948C>A						PRDM2_ENST00000505823.1_5'UTR|PRDM2_ENST00000503842.1_5'UTR|PRDM2_ENST00000343137.4_5'UTR|PRDM2_ENST00000311066.5_Silent_p.A159A|PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000376048.5_Silent_p.A159A|PRDM2_ENST00000413440.1_5'UTR	p.A159A	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	6	1333	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	159					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	c.477C>A	CCDS150.1																																																																																				0.731	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		8	13	1	0	2.17888e-05	0.006214	2.26603e-05	8	13				
PLIN2	123	broad.mit.edu	37	9	19126190	19126190	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr9:19126190C>A	ENST00000276914.2	-	3	327	c.148G>T	c.(148-150)Gca>Tca	p.A50S	PLIN2_ENST00000380465.3_Missense_Mutation_p.A50S|PLIN2_ENST00000411567.1_Missense_Mutation_p.A50S|PLIN2_ENST00000380464.3_Missense_Mutation_p.A50S	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	50					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						CCGTTCTCTGCCATCTCACAC	0.517																																						ENST00000276914.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						c.(148-150)Gca>Tca		perilipin 2							188.0	137.0	154.0					9																	19126190		2203	4300	6503	SO:0001583	missense	123				cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		g.chr9:19126190C>A	X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.148G>T	9.37:g.19126190C>A	ENSP00000276914:p.Ala50Ser					PLIN2_ENST00000411567.1_Missense_Mutation_p.A50S|PLIN2_ENST00000380464.3_Missense_Mutation_p.A50S|PLIN2_ENST00000380465.3_Missense_Mutation_p.A50S	p.A50S	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN			3	327	-			50					Q9BSC3	Missense_Mutation	SNP	ENST00000276914.2	37	c.148G>T	CCDS6490.1	.	.	.	.	.	.	.	.	.	.	C	36	5.739345	0.96873	.	.	ENSG00000147872	ENST00000411567;ENST00000276914;ENST00000434144;ENST00000380465;ENST00000380464	T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89	5.54	5.54	0.83059	.	0.047005	0.85682	D	0.000000	T	0.43765	0.1262	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	T	0.51356	-0.8716	10	0.62326	D	0.03	.	19.4898	0.95046	0.0:1.0:0.0:0.0	.	50;50	E9PG83;Q99541	.;PLIN2_HUMAN	S	50	ENSP00000415270:A50S;ENSP00000276914:A50S;ENSP00000403421:A50S;ENSP00000369832:A50S;ENSP00000369831:A50S	ENSP00000276914:A50S	A	-	1	0	PLIN2	19116190	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.667000	0.83888	2.585000	0.87301	0.561000	0.74099	GCA		0.517	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1	NM_001122		39	82	1	0	1.59361e-14	0.027894	1.88336e-14	39	82				
PIP5K1C	23396	broad.mit.edu	37	19	3648623	3648623	+	Splice_Site	SNP	C	C	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr19:3648623C>A	ENST00000335312.3	-	9	1299	c.1211G>T	c.(1210-1212)aGg>aTg	p.R404M	PIP5K1C_ENST00000589578.1_Splice_Site_p.R404M|PIP5K1C_ENST00000537021.1_Splice_Site_p.R404M|PIP5K1C_ENST00000587482.1_5'Flank|PIP5K1C_ENST00000539785.1_Splice_Site_p.R404M	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	404	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GGGCACCCACCTGTAGGACTG	0.706																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	ENST00000335312.3																			0				large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9						c.e9+1		phosphatidylinositol-4-phosphate 5-kinase, type I, gamma							40.0	41.0	40.0					19																	3648623		2203	4299	6502	SO:0001630	splice_region_variant	23396				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr19:3648623C>A	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.1211+1G>T	19.37:g.3648623C>A						PIP5K1C_ENST00000589578.1_Splice_Site_p.R404_splice|PIP5K1C_ENST00000539785.1_Splice_Site_p.R404_splice|PIP5K1C_ENST00000537021.1_Splice_Site_p.R404_splice	p.R404_splice	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)	9	1299	-		Hepatocellular(1079;0.137)	404			PIPK.		B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Splice_Site	SNP	ENST00000335312.3	37	c.1211_splice	CCDS32872.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200076	0.58126	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	T;T;T	0.31769	1.48;1.48;1.48	4.04	4.04	0.47022	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.045522	0.85682	D	0.000000	T	0.62720	0.2451	M	0.91612	3.225	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72075	0.96;0.976	T	0.73754	-0.3883	9	.	.	.	-42.6139	15.1514	0.72703	0.0:1.0:0.0:0.0	.	404;404	O60331-3;O60331	.;PI51C_HUMAN	M	404	ENSP00000335333:R404M;ENSP00000445992:R404M;ENSP00000444779:R404M	.	R	-	2	0	PIP5K1C	3599623	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	7.735000	0.84939	1.795000	0.52594	0.297000	0.19635	AGG		0.706	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398	Missense_Mutation	15	57	1	0	5.3912e-06	0.038395	5.72128e-06	15	57				
LAMB4	22798	broad.mit.edu	37	7	107732207	107732207	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr7:107732207T>C	ENST00000388781.3	-	14	1648	c.1565A>G	c.(1564-1566)aAt>aGt	p.N522S	LAMB4_ENST00000418464.1_Missense_Mutation_p.N522S|LAMB4_ENST00000388780.3_Missense_Mutation_p.N522S|LAMB4_ENST00000414450.2_Missense_Mutation_p.N522S|LAMB4_ENST00000205386.4_Missense_Mutation_p.N522S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	522	Laminin EGF-like 5; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ACACTGCCCATTCTTGGGTGA	0.502																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(1564-1566)aAt>aGt		laminin, beta 4							76.0	74.0	75.0					7																	107732207		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107732207T>C	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1565A>G	7.37:g.107732207T>C	ENSP00000373433:p.Asn522Ser					LAMB4_ENST00000414450.2_Missense_Mutation_p.N522S|LAMB4_ENST00000388780.3_Missense_Mutation_p.N522S|LAMB4_ENST00000205386.4_Missense_Mutation_p.N522S	p.N522S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			14	1648	-			522			Laminin EGF-like 5; truncated.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.1565A>G	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.041551	0.00402	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17	4.37	1.8	0.24995	EGF-like, laminin (3);	0.597409	0.14444	N	0.319209	T	0.22513	0.0543	N	0.01800	-0.715	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.27938	-1.0059	10	0.06099	T	0.92	.	5.2609	0.15573	0.0:0.1687:0.1519:0.6793	.	522	A4D0S4	LAMB4_HUMAN	S	522	ENSP00000205386:N522S;ENSP00000373433:N522S;ENSP00000373432:N522S;ENSP00000402353:N522S;ENSP00000402265:N522S	ENSP00000205386:N522S	N	-	2	0	LAMB4	107519443	0.000000	0.05858	0.006000	0.13384	0.316000	0.28119	0.570000	0.23653	0.170000	0.19704	0.533000	0.62120	AAT		0.502	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		18	69	0	0	0	0.043863	0	18	69				
OR8D2	283160	broad.mit.edu	37	11	124189328	124189328	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr11:124189328T>A	ENST00000357438.2	-	1	856	c.766A>T	c.(766-768)Aca>Tca	p.T256S		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TACATGAATGTTATAGACCCA	0.438																																						ENST00000357438.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(766-768)Aca>Tca		olfactory receptor, family 8, subfamily D, member 2							119.0	126.0	123.0					11																	124189328		2201	4299	6500	SO:0001583	missense	283160				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124189328T>A	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.766A>T	11.37:g.124189328T>A	ENSP00000350022:p.Thr256Ser						p.T256S	NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	856	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	256					B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	37	c.766A>T	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	t	14.29	2.491428	0.44249	.	.	ENSG00000197263	ENST00000357438	T	0.37058	1.22	3.34	0.943	0.19531	GPCR, rhodopsin-like superfamily (1);	0.133396	0.34200	N	0.004179	T	0.22898	0.0553	N	0.05414	-0.055	0.09310	N	1	D	0.56746	0.977	P	0.54431	0.752	T	0.07083	-1.0791	10	0.51188	T	0.08	.	2.1064	0.03692	0.1428:0.0941:0.2918:0.4713	.	256	Q9GZM6	OR8D2_HUMAN	S	256	ENSP00000350022:T256S	ENSP00000350022:T256S	T	-	1	0	OR8D2	123694538	0.000000	0.05858	0.008000	0.14137	0.984000	0.73092	-3.869000	0.00346	0.202000	0.20498	0.432000	0.28606	ACA		0.438	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		37	81	0	0	0	0.021022	0	37	81				
ROBO1	6091	broad.mit.edu	37	3	78987994	78987994	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr3:78987994T>G	ENST00000464233.1	-	4	369	c.256A>C	c.(256-258)Act>Cct	p.T86P	ROBO1_ENST00000467549.1_Missense_Mutation_p.T47P|ROBO1_ENST00000495273.1_Missense_Mutation_p.T47P|ROBO1_ENST00000436010.2_Missense_Mutation_p.T47P|RN7SL751P_ENST00000473281.2_RNA	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	86	Ig-like C2-type 1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CAGTTCAAAGTTGCAGGTTCT	0.507																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(139-141)Act>Cct		roundabout, axon guidance receptor, homolog 1 (Drosophila)							110.0	104.0	106.0					3																	78987994		1870	4105	5975	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78987994T>G	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.256A>C	3.37:g.78987994T>G	ENSP00000420321:p.Thr86Pro					ROBO1_ENST00000495273.1_Missense_Mutation_p.T47P|ROBO1_ENST00000464233.1_Missense_Mutation_p.T86P|ROBO1_ENST00000467549.1_Missense_Mutation_p.T47P	p.T47P			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	2	1136	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	86					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.139A>C	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.325878	0.81580	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.69	4.51	0.55191	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71719	0.3373	M	0.88241	2.94	0.53688	D	0.99997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.996	T	0.75619	-0.3255	9	.	.	.	.	12.0862	0.53698	0.129:0.0:0.0:0.871	.	86;47;47;47	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	P	47;47;86;47;47;86	ENSP00000406043:T47P;ENSP00000420321:T86P;ENSP00000420637:T47P;ENSP00000417992:T47P	.	T	-	1	0	ROBO1	79070684	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	8.013000	0.88655	0.961000	0.38030	0.379000	0.24179	ACT		0.507	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		21	55	0	0	0	0.014323	0	21	55				
ADH6	130	broad.mit.edu	37	4	100131636	100131636	+	Silent	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr4:100131636G>A	ENST00000237653.7	-	4	670	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000407820.2_5'UTR|ADH6_ENST00000394899.2_Silent_p.L96L|ADH6_ENST00000394897.1_Silent_p.L96L|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000504257.1_5'Flank|RP11-696N14.1_ENST00000500358.2_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	96					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	CACTGTGGCAGAAAGAGTGTG	0.303																																						ENST00000394897.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20						c.(286-288)Ctg>Ttg		alcohol dehydrogenase 6 (class V)	Abacavir(DB01048)|NADH(DB00157)						69.0	72.0	71.0					4																	100131636		2203	4297	6500	SO:0001819	synonymous_variant	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100131636G>A	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.286C>T	4.37:g.100131636G>A						RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_5'UTR|ADH6_ENST00000394899.2_Silent_p.L96L|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000237653.7_Silent_p.L96L|RP11-696N14.1_ENST00000506160.1_RNA	p.L96L			P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	4	368	-			96					B3KS45|Q58F53	Silent	SNP	ENST00000237653.7	37	c.286C>T	CCDS3647.1																																																																																				0.303	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		28	80	0	0	0	0.012213	0	28	80				
CUL9	23113	broad.mit.edu	37	6	43189000	43189000	+	Silent	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr6:43189000C>T	ENST00000252050.4	+	34	6777	c.6693C>T	c.(6691-6693)ctC>ctT	p.L2231L	CUL9_ENST00000372647.2_Silent_p.L2203L|RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000354495.3_Silent_p.L2121L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2231					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGGCCAAGCTCATCTCCAAGC	0.612																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(6691-6693)ctC>ctT		cullin 9							83.0	65.0	71.0					6																	43189000		2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43189000C>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.6693C>T	6.37:g.43189000C>T						CUL9_ENST00000354495.3_Silent_p.L2121L|CUL9_ENST00000372647.2_Silent_p.L2203L|RP3-330M21.5_ENST00000500590.1_RNA	p.L2231L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			34	6777	+			2231					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.6693C>T	CCDS4890.1																																																																																				0.612	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		12	39	0	0	0	0.013537	0	12	39				
KDM2B	84678	broad.mit.edu	37	12	122018774	122018774	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr12:122018774G>A	ENST00000377071.4	-	1	115	c.43C>T	c.(43-45)Cca>Tca	p.P15S	KDM2B_ENST00000538046.2_Missense_Mutation_p.P15S|KDM2B_ENST00000377069.4_5'Flank|KDM2B_ENST00000536437.1_5'UTR|RP13-941N14.1_ENST00000541574.1_lincRNA	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	15					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTTTTTCGTGGGGGGTGATCC	0.483																																						ENST00000377071.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(43-45)Cca>Tca		lysine (K)-specific demethylase 2B							127.0	127.0	127.0					12																	122018774		1840	4084	5924	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:122018774G>A	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.43C>T	12.37:g.122018774G>A	ENSP00000366271:p.Pro15Ser					KDM2B_ENST00000536437.1_5'UTR|KDM2B_ENST00000538046.2_Missense_Mutation_p.P15S|RP13-941N14.1_ENST00000541574.1_lincRNA	p.P15S	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN			1	115	-			15					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.43C>T	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	G	0.342	-0.949893	0.02285	.	.	ENSG00000089094	ENST00000397480;ENST00000377071;ENST00000397478;ENST00000261824	T	0.20881	2.04	2.57	1.66	0.24008	.	3.283940	0.01080	N	0.004978	T	0.12774	0.0310	N	0.08118	0	0.22803	N	0.998713	B;B	0.12630	0.0;0.006	B;B	0.08055	0.001;0.003	T	0.24404	-1.0161	10	0.25751	T	0.34	0.0347	8.3512	0.32303	0.1365:0.0:0.8635:0.0	.	15;15	E7EML5;Q8NHM5	.;KDM2B_HUMAN	S	15	ENSP00000366271:P15S	ENSP00000261824:P15S	P	-	1	0	KDM2B	120503157	0.582000	0.26749	0.023000	0.16930	0.175000	0.22909	0.423000	0.21313	0.195000	0.20347	-1.598000	0.00824	CCA		0.483	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		32	135	0	0	0	0.045705	0	32	135				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			6	63	0	0	0	0.021553	0	6	63				
PI4KAP1	728233	broad.mit.edu	37	22	20386794	20386794	+	RNA	SNP	A	A	C			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr22:20386794A>C	ENST00000430523.3	-	0	1718					NR_003563.1		Q8N8J0	PI4P1_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1						phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)												CCACCCCCAAAAGGCAGGTTG	0.597																																						ENST00000430523.3																			0																																																			728233							g.chr22:20386794A>C			22q11.21	2007-08-14	2007-08-14			ENSG00000274602			33576	pseudogene	pseudogene							Standard	NR_003563		Approved		uc010gsg.2	Q8N8J0			22.37:g.20386794A>C								NR_003563.1						0	1718	-									RNA	SNP	ENST00000430523.3	37																																																																																						0.597	PI4KAP1-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319534.5			5	15	0	0	0	0.014758	0	5	15				
SLC52A2	79581	broad.mit.edu	37	8	145583549	145583549	+	Silent	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr8:145583549C>T	ENST00000532887.1	+	3	980	c.397C>T	c.(397-399)Ctg>Ttg	p.L133L	SLC52A2_ENST00000402965.1_Silent_p.L133L|FBXL6_ENST00000455319.2_5'Flank|FBXL6_ENST00000331890.5_5'Flank|FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000526891.1_3'UTR|SLC52A2_ENST00000530047.1_Silent_p.L133L|SLC52A2_ENST00000329994.2_Silent_p.L133L|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000540505.1_Silent_p.L45L|SLC52A2_ENST00000527078.1_Silent_p.L133L			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	133					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	TGTCACTTTCCTGCCCTTCTT	0.602																																						ENST00000532887.1																			0											c.(397-399)Ctg>Ttg		solute carrier family 52 (riboflavin transporter), member 2							170.0	164.0	166.0					8																	145583549		2203	4300	6503	SO:0001819	synonymous_variant	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145583549C>T	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.397C>T	8.37:g.145583549C>T						SLC52A2_ENST00000329994.2_Silent_p.L133L|SLC52A2_ENST00000402965.1_Silent_p.L133L|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Silent_p.L133L|SLC52A2_ENST00000527078.1_Silent_p.L133L|SLC52A2_ENST00000540505.1_Silent_p.L45L|SLC52A2_ENST00000526891.1_3'UTR	p.L133L			Q9HAB3	RFT3_HUMAN			3	980	+			133					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Silent	SNP	ENST00000532887.1	37	c.397C>T	CCDS6423.1																																																																																				0.602	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		65	281	0	0	0	0.014410	0	65	281				
REG3A	5068	broad.mit.edu	37	2	79385538	79385538	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr2:79385538C>G	ENST00000409839.3	-	4	283	c.247G>C	c.(247-249)Gct>Cct	p.A83P	REG3A_ENST00000305165.2_Missense_Mutation_p.A83P|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000393878.1_Missense_Mutation_p.A83P	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	83	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GATCCCTCAGCCCCACTGAGC	0.572																																						ENST00000393878.1																			0				breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						c.(247-249)Gct>Cct		regenerating islet-derived 3 alpha							132.0	110.0	118.0					2																	79385538		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79385538C>G	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.247G>C	2.37:g.79385538C>G	ENSP00000386630:p.Ala83Pro					AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.A83P|REG3A_ENST00000409839.3_Missense_Mutation_p.A83P	p.A83P	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN			3	501	-			83			C-type lectin.			Missense_Mutation	SNP	ENST00000409839.3	37	c.247G>C	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638032	0.29157	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.19532	2.14;2.14;2.14	4.02	-1.95	0.07548	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.348330	0.05000	N	0.468905	T	0.25494	0.0620	M	0.85777	2.775	0.09310	N	1	B	0.10296	0.003	B	0.14023	0.01	T	0.43426	-0.9392	10	0.62326	D	0.03	.	0.7956	0.01065	0.3714:0.2913:0.1434:0.1939	.	83	Q06141	REG3A_HUMAN	P	83	ENSP00000386630:A83P;ENSP00000377456:A83P;ENSP00000304311:A83P	ENSP00000304311:A83P	A	-	1	0	REG3A	79239046	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-2.034000	0.01424	-0.390000	0.07774	0.603000	0.83216	GCT		0.572	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		12	67	0	0	0	0.013537	0	12	67				
SOX3	6658	broad.mit.edu	37	X	139586674	139586674	+	Silent	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chrX:139586674C>T	ENST00000370536.2	-	1	551	c.552G>A	c.(550-552)gaG>gaA	p.E184E		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	184					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					ATGGTCGCTTCTCGGCGTCGG	0.612																																						ENST00000370536.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10						c.(550-552)gaG>gaA		SRY (sex determining region Y)-box 3							79.0	72.0	75.0					X																	139586674		2203	4300	6503	SO:0001819	synonymous_variant	6658				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	g.chrX:139586674C>T		CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"""SRY (sex determining region Y)-boxes"""	11199	protein-coding gene	gene with protein product		313430	"""panhypopituitarism"""	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.552G>A	X.37:g.139586674C>T							p.E184E	NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN			1	551	-	Acute lymphoblastic leukemia(192;7.65e-05)		184					P35714|Q5JWI3|Q9NP49	Silent	SNP	ENST00000370536.2	37	c.552G>A	CCDS14669.1																																																																																				0.612	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058577.1			4	50	0	0	0	0.009096	0	4	50				
PTEN	5728	broad.mit.edu	37	10	89692794	89692794	+	Missense_Mutation	SNP	A	A	G	rs121909238		TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr10:89692794A>G	ENST00000371953.3	+	5	1635	c.278A>G	c.(277-279)cAt>cGt	p.H93R		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	93	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		H -> R (in MCEPHAS). {ECO:0000269|PubMed:15805158}.|H -> Y (in CWS1).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.H93R(3)|p.Y27fs*1(2)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTGAAGACCATAACCCACCA	0.338		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		55	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Substitution - Missense(3)|Deletion - In frame(2)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.H93R(3)|p.Y27fs*1(2)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(12)|lung(6)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|endometrium(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM051214	PTEN	M	rs121909238	c.(277-279)cAt>cGt		phosphatase and tensin homolog							111.0	102.0	105.0					10																	89692794		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692794A>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.278A>G	10.37:g.89692794A>G	ENSP00000361021:p.His93Arg	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.H93R	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1635	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	93		H -> R (in MCEPHAS).|H -> Y (in CD).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.278A>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.387346	0.82902	.	.	ENSG00000171862	ENST00000371953	D	0.98792	-5.14	5.07	5.07	0.68467	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99190	0.9719	M	0.89287	3.02	0.80722	A	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99331	1.0909	8	.	.	.	-6.7727	14.8406	0.70220	1.0:0.0:0.0:0.0	.	93	P60484	PTEN_HUMAN	R	93	ENSP00000361021:H93R	.	H	+	2	0	PTEN	89682774	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.914000	0.92735	1.880000	0.54463	0.533000	0.62120	CAT		0.338	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		21	63	0	0	0	0.018920	0	21	63				
DIP2A	23181	broad.mit.edu	37	21	47977603	47977603	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr21:47977603C>G	ENST00000417564.2	+	31	3756	c.3735C>G	c.(3733-3735)ttC>ttG	p.F1245L	DIP2A_ENST00000318711.7_Missense_Mutation_p.F1246L|DIP2A_ENST00000400274.1_Missense_Mutation_p.F1241L			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1245					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GCGTCACCTTCTGCTCCTACT	0.637																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3736-3738)ttC>ttG		DIP2 disco-interacting protein 2 homolog A (Drosophila)							35.0	42.0	40.0					21																	47977603		2100	4252	6352	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47977603C>G	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.3735C>G	21.37:g.47977603C>G	ENSP00000392066:p.Phe1245Leu					DIP2A_ENST00000417564.2_Missense_Mutation_p.F1245L|DIP2A_ENST00000400274.1_Missense_Mutation_p.F1241L	p.F1246L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	31	3921	+	Breast(49;0.0933)		1245					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.3738C>G	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706109	0.89018	.	.	ENSG00000160305	ENST00000400274;ENST00000318711;ENST00000417564	T;T;T	0.10668	2.85;2.85;2.85	5.81	5.81	0.92471	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	M	0.69823	2.125	0.80722	D	1	P;D;B	0.63046	0.744;0.992;0.268	B;D;B	0.76071	0.396;0.987;0.347	T	0.01608	-1.1313	10	0.17369	T	0.5	-27.5363	19.051	0.93046	0.0:1.0:0.0:0.0	.	1246;36;1245	E9PER1;Q9NSX6;Q14689	.;.;DIP2A_HUMAN	L	1241;1246;1245	ENSP00000383133:F1241L;ENSP00000323633:F1246L;ENSP00000392066:F1245L	ENSP00000323633:F1246L	F	+	3	2	DIP2A	46802031	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.880000	0.69698	2.745000	0.94114	0.655000	0.94253	TTC		0.637	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		8	18	0	0	0	0.006214	0	8	18				
TTC17	55761	broad.mit.edu	37	11	43418289	43418289	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr11:43418289G>T	ENST00000039989.4	+	6	708	c.694G>T	c.(694-696)Gct>Tct	p.A232S	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.A232S|RP11-484D2.4_ENST00000394183.2_RNA	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	232					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GTATAACATGGCTTCATTTTA	0.388																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(694-696)Gct>Tct		tetratricopeptide repeat domain 17							131.0	125.0	127.0					11																	43418289		2202	4300	6502	SO:0001583	missense	55761						binding	g.chr11:43418289G>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.694G>T	11.37:g.43418289G>T	ENSP00000039989:p.Ala232Ser					TTC17_ENST00000299240.6_Missense_Mutation_p.A232S|TTC17_ENST00000526774.1_3'UTR	p.A232S	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			6	708	+			232					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.694G>T	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	35	5.512314	0.96402	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.57273	0.41;0.41	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.72479	0.3465	M	0.68952	2.095	0.80722	D	1	D;P;D	0.89917	1.0;0.879;1.0	D;P;D	0.91635	0.998;0.76;0.999	T	0.69939	-0.5009	10	0.44086	T	0.13	-12.1418	19.9855	0.97347	0.0:0.0:1.0:0.0	.	232;232;232	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	S	232	ENSP00000299240:A232S;ENSP00000039989:A232S	ENSP00000039989:A232S	A	+	1	0	TTC17	43374865	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.813000	0.99286	2.806000	0.96561	0.655000	0.94253	GCT		0.388	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		15	66	1	0	0.000308642	0.024245	0.000314694	15	66				
ANGPT4	51378	broad.mit.edu	37	20	896725	896725	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr20:896725A>C	ENST00000381922.3	-	1	235	c.133T>G	c.(133-135)Tac>Gac	p.Y45D	ANGPT4_ENST00000546022.1_Missense_Mutation_p.Y45D	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	45					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						AAGAAGGTGTAGCTACAGTGG	0.607																																					Pancreas(181;481 2077 3259 31286 49856)	ENST00000381922.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(133-135)Tac>Gac		angiopoietin 4							116.0	110.0	112.0					20																	896725		2203	4300	6503	SO:0001583	missense	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:896725A>C	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.133T>G	20.37:g.896725A>C	ENSP00000371347:p.Tyr45Asp					ANGPT4_ENST00000546022.1_Missense_Mutation_p.Y45D	p.Y45D	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN			1	235	-			45					B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	c.133T>G	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.051379	0.55218	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.14022	2.54;2.54	4.57	4.57	0.56435	.	0.000000	0.41294	D	0.000910	T	0.34890	0.0913	M	0.75615	2.305	0.49130	D	0.999758	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.10474	-1.0628	10	0.87932	D	0	.	10.2469	0.43345	1.0:0.0:0.0:0.0	.	45;45	B4E3J9;Q9Y264	.;ANGP4_HUMAN	D	45	ENSP00000371347:Y45D;ENSP00000439605:Y45D	ENSP00000371347:Y45D	Y	-	1	0	ANGPT4	844725	1.000000	0.71417	1.000000	0.80357	0.461000	0.32589	7.059000	0.76684	1.925000	0.55765	0.254000	0.18369	TAC		0.607	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		19	65	0	0	0	0.038395	0	19	65				
CSRNP3	80034	broad.mit.edu	37	2	166533063	166533063	+	Missense_Mutation	SNP	G	G	A	rs369735548		TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr2:166533063G>A	ENST00000342316.4	+	4	922	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	CSRNP3_ENST00000409420.1_Missense_Mutation_p.R249Q|CSRNP3_ENST00000314499.7_Missense_Mutation_p.R217Q	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	217	Cys-rich.				apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TGTGACTGCCGAGTGTTCTGT	0.542																																						ENST00000314499.7																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						c.(649-651)cGa>cAa		cysteine-serine-rich nuclear protein 3		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	67.0	64.0	65.0		650,650	5.8	1.0	2		65	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CSRNP3	NM_001172173.1,NM_024969.3	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	217/586,217/586	166533063	1,13005	2203	4300	6503	SO:0001583	missense	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166533063G>A	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.650G>A	2.37:g.166533063G>A	ENSP00000344042:p.Arg217Gln					CSRNP3_ENST00000342316.4_Missense_Mutation_p.R217Q|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R249Q	p.R217Q	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN			6	1026	+			217			Cys-rich.		B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	c.650G>A	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	G	35	5.468891	0.96274	0.0	1.16E-4	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.47710	0.1460	N	0.12887	0.27	0.51012	D	0.999904	D	0.89917	1.0	D	0.81914	0.995	T	0.41910	-0.9482	10	0.25106	T	0.35	-12.2647	19.3504	0.94381	0.0:0.0:1.0:0.0	.	217	Q8WYN3	CSRN3_HUMAN	Q	217;224;217;217;249	ENSP00000412081:R217Q;ENSP00000318258:R217Q;ENSP00000344042:R217Q;ENSP00000387195:R249Q	ENSP00000318258:R217Q	R	+	2	0	CSRNP3	166241309	1.000000	0.71417	0.979000	0.43373	0.995000	0.86356	7.965000	0.87945	2.885000	0.99019	0.655000	0.94253	CGA		0.542	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		21	50	0	0	0	0.010504	0	21	50				
MROH2B	133558	broad.mit.edu	37	5	41008749	41008749	+	Silent	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr5:41008749C>T	ENST00000399564.4	-	33	4017	c.3567G>A	c.(3565-3567)gtG>gtA	p.V1189V	MROH2B_ENST00000506092.2_Silent_p.V744V	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1189																	CCTGCTGCATCACATGCCGCC	0.567																																						ENST00000399564.4																			0											c.(3565-3567)gtG>gtA		maestro heat-like repeat family member 2B							88.0	90.0	89.0					5																	41008749		2078	4206	6284	SO:0001819	synonymous_variant	133558							g.chr5:41008749C>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3567G>A	5.37:g.41008749C>T						MROH2B_ENST00000506092.2_Silent_p.V744V	p.V1189V	NM_173489.4	NP_775760.3					33	4017	-								Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	c.3567G>A	CCDS47202.1																																																																																				0.567	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		34	51	0	0	0	0.015359	0	34	51				
KGFLP2	654466	broad.mit.edu	37	9	41962521	41962521	+	lincRNA	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr9:41962521G>A	ENST00000454645.1	-	0	983					NR_003670.1																						AAATCTCCCTGCTGGAACTGG	0.328																																						ENST00000454645.1																			0																																																			654466							g.chr9:41962521G>A																													9.37:g.41962521G>A								NR_003670.1						0	983	-									RNA	SNP	ENST00000454645.1	37																																																																																						0.328	RP11-204M4.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143738.1			3	10	0	0	0	0.004672	0	3	10				
PRPS1L1	221823	broad.mit.edu	37	7	18067095	18067095	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr7:18067095C>A	ENST00000506618.2	-	1	391	c.311G>T	c.(310-312)cGg>cTg	p.R104L		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	104					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					GATTGGGGACCGGCTCTTATC	0.468																																						ENST00000506618.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(310-312)cGg>cTg		phosphoribosyl pyrophosphate synthetase 1-like 1							148.0	151.0	150.0					7																	18067095		2203	4300	6503	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18067095C>A	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.311G>T	7.37:g.18067095C>A	ENSP00000424595:p.Arg104Leu						p.R104L	NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN			1	391	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		104					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.311G>T	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474237	0.63737	.	.	ENSG00000229937	ENST00000506618	D	0.92299	-3.01	4.47	2.66	0.31614	.	.	.	.	.	D	0.96500	0.8858	H	0.98407	4.225	.	.	.	P	0.39696	0.683	P	0.51355	0.667	D	0.97718	1.0195	8	0.87932	D	0	.	8.9745	0.35928	0.0:0.8158:0.0:0.1842	.	104	P21108	PRPS3_HUMAN	L	104	ENSP00000424595:R104L	ENSP00000424595:R104L	R	-	2	0	PRPS1L1	18033620	1.000000	0.71417	0.794000	0.32065	0.904000	0.53231	3.264000	0.51553	0.635000	0.30488	0.650000	0.86243	CGG		0.468	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		36	110	1	0	6.90743e-12	0.017118	7.98191e-12	36	110				
OR52B2	255725	broad.mit.edu	37	11	6191145	6191145	+	Silent	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr11:6191145G>A	ENST00000530810.1	-	1	493	c.412C>T	c.(412-414)Cta>Tta	p.L138L	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATGTTAGCACTGTTGTA	0.512																																					NSCLC(5;186 261 1778 7098 14207)	ENST00000530810.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21						c.(412-414)Cta>Tta		olfactory receptor, family 52, subfamily B, member 2							59.0	60.0	60.0					11																	6191145		2174	4277	6451	SO:0001819	synonymous_variant	255725				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6191145G>A	AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"""GPCR / Class A : Olfactory receptors"""	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.412C>T	11.37:g.6191145G>A						RP11-290F24.3_ENST00000529961.1_RNA	p.L138L	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	493	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	138					Q8NGM7	Silent	SNP	ENST00000530810.1	37	c.412C>T	CCDS53598.1																																																																																				0.512	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385977.1	NM_001004052		9	49	0	0	0	0.006214	0	9	49				
COL4A4	1286	broad.mit.edu	37	2	227912248	227912248	+	Missense_Mutation	SNP	C	C	T	rs77277077	byFrequency	TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr2:227912248C>T	ENST00000396625.3	-	35	3439	c.3232G>A	c.(3232-3234)Gcc>Acc	p.A1078T	COL4A4_ENST00000329662.7_Missense_Mutation_p.A1078T	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1078	Triple-helical region.				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)		AAGTGACTGGCAGGGTCACCT	0.398													C|||	29	0.00579073	0.0212	0.0014	5008	,	,		17051	0.0		0.0	False		,,,				2504	0.0					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						c.(3232-3234)Gcc>Acc		collagen, type IV, alpha 4		C	THR/ALA	67,3625		1,65,1780	52.0	53.0	53.0		3232	4.1	1.0	2	dbSNP_131	53	0,8180		0,0,4090	yes	missense	COL4A4	NM_000092.4	58	1,65,5870	TT,TC,CC		0.0,1.8147,0.5644	probably-damaging	1078/1691	227912248	67,11805	1846	4090	5936	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227912248C>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	ENST00000396625.3:c.3232G>A	2.37:g.227912248C>T	ENSP00000379866:p.Ala1078Thr					COL4A4_ENST00000329662.7_Missense_Mutation_p.A1078T	p.A1078T	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)	35	3439	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1078			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.3232G>A	CCDS42828.1	13	0.005952380952380952	12	0.024390243902439025	1	0.0027624309392265192	0	0.0	0	0.0	C	16.00	2.998692	0.54147	0.018147	0.0	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.93488	-3.23;-3.23	5.89	4.08	0.47627	.	.	.	.	.	D	0.84906	0.5576	N	0.14661	0.345	0.28200	N	0.927399	D	0.60575	0.988	P	0.60473	0.875	T	0.80211	-0.1476	9	0.31617	T	0.26	.	8.976	0.35935	0.0:0.7704:0.1505:0.0791	.	1078	P53420	CO4A4_HUMAN	T	1078	ENSP00000379866:A1078T;ENSP00000328553:A1078T	ENSP00000328553:A1078T	A	-	1	0	COL4A4	227620492	0.984000	0.35163	0.994000	0.49952	0.990000	0.78478	0.862000	0.27899	1.491000	0.48482	0.561000	0.74099	GCC		0.398	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		12	21	0	0	0	0.013537	0	12	21				
WHSC1	7468	broad.mit.edu	37	4	1902895	1902895	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr4:1902895A>T	ENST00000382895.3	+	4	945	c.514A>T	c.(514-516)Agc>Tgc	p.S172C	WHSC1_ENST00000398261.1_Missense_Mutation_p.S172C|WHSC1_ENST00000420906.2_Missense_Mutation_p.S172C|WHSC1_ENST00000514045.1_Missense_Mutation_p.S172C|WHSC1_ENST00000382891.5_Missense_Mutation_p.S172C|WHSC1_ENST00000436793.1_Missense_Mutation_p.S172C|WHSC1_ENST00000382892.2_Missense_Mutation_p.S172C|WHSC1_ENST00000508803.1_Missense_Mutation_p.S172C|WHSC1_ENST00000503128.1_Missense_Mutation_p.S172C	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	172					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CAGGAAGAGGAGCATAAAATA	0.438			T	IGH@	MM																																	ENST00000503128.1				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(514-516)Agc>Tgc		Wolf-Hirschhorn syndrome candidate 1							73.0	66.0	68.0					4																	1902895		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1902895A>T	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.514A>T	4.37:g.1902895A>T	ENSP00000372351:p.Ser172Cys					WHSC1_ENST00000436793.1_Missense_Mutation_p.S172C|WHSC1_ENST00000420906.2_Missense_Mutation_p.S172C|WHSC1_ENST00000508803.1_Missense_Mutation_p.S172C|WHSC1_ENST00000514045.1_Missense_Mutation_p.S172C|WHSC1_ENST00000382891.5_Missense_Mutation_p.S172C|WHSC1_ENST00000382892.2_Missense_Mutation_p.S172C|WHSC1_ENST00000398261.1_Missense_Mutation_p.S172C|WHSC1_ENST00000382895.3_Missense_Mutation_p.S172C	p.S172C			O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	2	721	+		all_epithelial(65;1.34e-05)	172					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.514A>T	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.419733	0.62622	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000515806;ENST00000382891;ENST00000382892;ENST00000436793;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	D;T;T;D;D;T;T;D;T;T;T	0.96365	-3.99;0.84;0.64;-3.99;-3.99;0.6;0.84;-3.99;0.83;0.91;0.83	4.94	2.54	0.30619	.	0.000000	0.64402	D	0.000002	D	0.96463	0.8846	L	0.50333	1.59	0.36831	D	0.886882	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;P;D;D	0.75484	0.979;0.979;0.885;0.986;0.979	D	0.95832	0.8859	10	0.72032	D	0.01	.	7.9177	0.29827	0.8387:0.0:0.1613:0.0	.	172;172;172;172;172	O96028-3;O96028-7;O96028;O96028-5;O96028-6	.;.;NSD2_HUMAN;.;.	C	172	ENSP00000423972:S172C;ENSP00000421681:S172C;ENSP00000427434:S172C;ENSP00000372347:S172C;ENSP00000372348:S172C;ENSP00000416725:S172C;ENSP00000399251:S172C;ENSP00000372351:S172C;ENSP00000425761:S172C;ENSP00000422878:S172C;ENSP00000381311:S172C	ENSP00000308780:S172C	S	+	1	0	WHSC1	1872693	1.000000	0.71417	0.698000	0.30274	0.989000	0.77384	4.836000	0.62789	0.386000	0.24997	0.533000	0.62120	AGC		0.438	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		12	22	0	0	0	0.010729	0	12	22				
RAPGEF2	9693	broad.mit.edu	37	4	160266481	160266481	+	Splice_Site	SNP	T	T	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr4:160266481T>G	ENST00000264431.4	+	18	3438	c.3019T>G	c.(3019-3021)Ttg>Gtg	p.L1007V		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1007					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AACCAACACATGTGAGTTTTT	0.463																																						ENST00000264431.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.e18+1		Rap guanine nucleotide exchange factor (GEF) 2							66.0	66.0	66.0					4																	160266481		1949	4156	6105	SO:0001630	splice_region_variant	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160266481T>G	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.3019+1T>G	4.37:g.160266481T>G							p.L1007_splice	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	18	3438	+	all_hematologic(180;0.24)		1007					D3DP27	Splice_Site	SNP	ENST00000264431.4	37	c.3019_splice	CCDS43277.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	13.23|13.23|13.23	2.175554|2.175554|2.175554	0.38413|0.38413|0.38413	.|.|.	.|.|.	ENSG00000109756|ENSG00000109756|ENSG00000109756	ENST00000510253|ENST00000502485|ENST00000264431	.|.|T	.|.|0.31247	.|.|1.5	6.07|6.07|6.07	-0.498|-0.498|-0.498	0.12019|0.12019|0.12019	.|.|Ras guanine nucleotide exchange factor, domain (1);	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.25158|0.25158|0.25158	0.0611|0.0611|0.0611	L|L|L	0.55834|0.55834|0.55834	1.745|1.745|1.745	0.51767|0.51767|0.51767	D|D|D	0.99993|0.99993|0.99993	.|.|B	.|.|0.24426	.|.|0.103	.|.|B	.|.|0.22152	.|.|0.038	T|T|T	0.05666|0.05666|0.05666	-1.0871|-1.0871|-1.0871	5|5|10	.|.|0.36615	.|.|T	.|.|0.2	.|.|.	10.0565|10.0565|10.0565	0.42248|0.42248|0.42248	0.0:0.3404:0.0:0.6596|0.0:0.3404:0.0:0.6596|0.0:0.3404:0.0:0.6596	.|.|.	.|.|1007	.|.|Q9Y4G8	.|.|RPGF2_HUMAN	Q|S|V	38|112|1007	.|.|ENSP00000264431:L1007V	.|.|ENSP00000264431:L1007V	H|I|L	+|+|+	3|2|1	2|0|2	RAPGEF2|RAPGEF2|RAPGEF2	160485931|160485931|160485931	0.020000|0.020000|0.020000	0.18652|0.18652|0.18652	0.838000|0.838000|0.838000	0.33150|0.33150|0.33150	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	0.044000|0.044000|0.044000	0.13992|0.13992|0.13992	-0.269000|-0.269000|-0.269000	0.09298|0.09298|0.09298	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	CAT|ATT|TTG		0.463	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247	Missense_Mutation	11	56	0	0	0	0.010729	0	11	56				
DUSP22	56940	broad.mit.edu	37	6	348127	348127	+	Silent	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr6:348127G>A	ENST00000344450.5	+	6	731	c.288G>A	c.(286-288)gtG>gtA	p.V96V	DUSP22_ENST00000419235.2_Silent_p.V96V|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605863.1_5'UTR	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	96	Tyrosine-protein phosphatase.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CCAGGAGCGTGACACTGGTGA	0.612																																						ENST00000419235.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26						c.(286-288)gtG>gtA		dual specificity phosphatase 22							177.0	165.0	169.0					6																	348127		2203	4300	6503	SO:0001819	synonymous_variant	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:348127G>A	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.288G>A	6.37:g.348127G>A						DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000344450.5_Silent_p.V96V|DUSP22_ENST00000605035.1_5'UTR	p.V96V			Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	6	366	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	96			Tyrosine-protein phosphatase.		B4DK56|Q59GW2|Q5VWR2|Q96AR1	Silent	SNP	ENST00000344450.5	37	c.288G>A	CCDS4468.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.514501	0.27123	.	.	ENSG00000112679	ENST00000419235	.	.	.	5.82	4.94	0.65067	.	.	.	.	.	T	0.42108	0.1188	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47497	-0.9113	4	.	.	.	.	5.8301	0.18577	0.1603:0.3205:0.5192:0.0	.	.	.	.	N	34	.	.	D	+	1	0	DUSP22	293127	0.890000	0.30428	0.999000	0.59377	0.957000	0.61999	-0.017000	0.12590	1.430000	0.47334	0.655000	0.94253	GAC		0.612	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		50	280	0	0	0	0.014410	0	50	280				
LRBA	987	broad.mit.edu	37	4	151773953	151773953	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr4:151773953C>A	ENST00000357115.3	-	23	3152	c.2909G>T	c.(2908-2910)gGa>gTa	p.G970V	LRBA_ENST00000535741.1_Missense_Mutation_p.G970V|LRBA_ENST00000510413.1_Missense_Mutation_p.G970V|LRBA_ENST00000507224.1_Missense_Mutation_p.G970V	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	970						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTGCTGGGATCCTACTGAAAC	0.403																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(2908-2910)gGa>gTa		LPS-responsive vesicle trafficking, beach and anchor containing							113.0	106.0	109.0					4																	151773953		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151773953C>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.2909G>T	4.37:g.151773953C>A	ENSP00000349629:p.Gly970Val					LRBA_ENST00000510413.1_Missense_Mutation_p.G970V|LRBA_ENST00000507224.1_Missense_Mutation_p.G970V|LRBA_ENST00000357115.3_Missense_Mutation_p.G970V	p.G970V			P50851	LRBA_HUMAN			23	3382	-	all_hematologic(180;0.151)		970					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.2909G>T	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	0.734	-0.778897	0.02929	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.55052	0.96;1.11;0.96;0.54	5.77	2.85	0.33270	.	0.631512	0.16557	N	0.209236	T	0.29524	0.0736	N	0.08118	0	0.09310	N	0.999996	B;B	0.26845	0.04;0.161	B;B	0.26202	0.06;0.067	T	0.16808	-1.0390	10	0.27785	T	0.31	.	8.8212	0.35027	0.0:0.4316:0.4447:0.1237	.	970;970	P50851;P50851-2	LRBA_HUMAN;.	V	970	ENSP00000446299:G970V;ENSP00000421552:G970V;ENSP00000349629:G970V;ENSP00000422180:G970V	ENSP00000349629:G970V	G	-	2	0	LRBA	151993403	0.000000	0.05858	0.010000	0.14722	0.042000	0.13812	-0.030000	0.12308	0.280000	0.22209	0.655000	0.94253	GGA		0.403	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			12	41	1	0	7.03913e-09	0.013537	7.70599e-09	12	41				
SLC5A12	159963	broad.mit.edu	37	11	26734241	26734241	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr11:26734241G>A	ENST00000396005.3	-	2	661	c.352C>T	c.(352-354)Cga>Tga	p.R118*	SLC5A12_ENST00000280467.6_Nonsense_Mutation_p.R118*	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	118					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						TTGTTGAATCGTAGTTGTAAG	0.418																																						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.(352-354)Cga>Tga		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12							293.0	252.0	266.0					11																	26734241		2203	4299	6502	SO:0001587	stop_gained	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26734241G>A	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.352C>T	11.37:g.26734241G>A	ENSP00000379326:p.Arg118*					SLC5A12_ENST00000280467.6_Nonsense_Mutation_p.R118*	p.R118*	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN			2	661	-			118					Q86UC7	Nonsense_Mutation	SNP	ENST00000396005.3	37	c.352C>T	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	G	38	7.051641	0.98029	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	.	.	.	5.13	2.86	0.33363	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.9722	0.30134	0.0843:0.0:0.5233:0.3924	.	.	.	.	X	118	.	ENSP00000280467:R118X	R	-	1	2	SLC5A12	26690817	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.493000	0.45320	1.214000	0.43395	0.655000	0.94253	CGA		0.418	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		60	189	0	0	0	0.014410	0	60	189				
KIAA1755	85449	broad.mit.edu	37	20	36841569	36841569	+	Missense_Mutation	SNP	G	G	A	rs376293680		TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr20:36841569G>A	ENST00000279024.4	-	14	3749	c.3478C>T	c.(3478-3480)Cgg>Tgg	p.R1160W		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1160										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGCTGCTGCCGGAAGAAGGTG	0.647																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(3478-3480)Cgg>Tgg		KIAA1755		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	41.0	44.0	43.0		3478	0.8	0.8	20		43	0,8600		0,0,4300	no	missense	KIAA1755	NM_001029864.1	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1160/1201	36841569	1,13005	2203	4300	6503	SO:0001583	missense	85449							g.chr20:36841569G>A	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.3478C>T	20.37:g.36841569G>A	ENSP00000279024:p.Arg1160Trp						p.R1160W	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			14	3749	-		Myeloproliferative disorder(115;0.00874)	1160					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.3478C>T	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.367468	0.24771	2.27E-4	0.0	ENSG00000149633	ENST00000279024	T	0.05855	3.38	4.87	0.831	0.18860	.	0.481917	0.17854	N	0.159746	T	0.01254	0.0041	N	0.00321	-1.65	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46289	-0.9202	10	0.02654	T	1	.	6.6607	0.23012	0.6299:0.0:0.3701:0.0	.	1160	Q5JYT7	K1755_HUMAN	W	1160	ENSP00000279024:R1160W	ENSP00000279024:R1160W	R	-	1	2	KIAA1755	36274983	0.950000	0.32346	0.841000	0.33234	0.130000	0.20726	0.239000	0.18023	-0.009000	0.14296	-0.416000	0.06073	CGG		0.647	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		17	74	0	0	0	0.014323	0	17	74				
ZNF638	27332	broad.mit.edu	37	2	71633384	71633384	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr2:71633384A>G	ENST00000409544.1	+	19	3757	c.3127A>G	c.(3127-3129)Aga>Gga	p.R1043G	ZNF638_ENST00000264447.4_Missense_Mutation_p.R1043G|ZNF638_ENST00000409407.1_5'Flank|ZNF638_ENST00000355812.3_Missense_Mutation_p.R1043G	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1043					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CATAAGTAATAGAAACAAGGT	0.343																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(3127-3129)Aga>Gga		zinc finger protein 638							121.0	109.0	113.0					2																	71633384		2202	4300	6502	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71633384A>G	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.3127A>G	2.37:g.71633384A>G	ENSP00000386433:p.Arg1043Gly					ZNF638_ENST00000355812.3_Missense_Mutation_p.R1043G|ZNF638_ENST00000264447.4_Missense_Mutation_p.R1043G	p.R1043G	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			19	3757	+			1043					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.3127A>G	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.743987	0.49151	.	.	ENSG00000075292	ENST00000394137;ENST00000355812;ENST00000264447;ENST00000409544	T;T;T	0.59083	0.29;1.36;1.36	5.47	5.47	0.80525	.	0.339199	0.25610	N	0.029481	T	0.44953	0.1318	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.26547	0.039;0.152;0.019;0.058	B;B;B;B	0.24394	0.01;0.053;0.022;0.014	T	0.44997	-0.9291	10	0.66056	D	0.02	-10.4142	13.4987	0.61440	1.0:0.0:0.0:0.0	.	1043;1043;1043;1043	A8K583;Q14966-4;Q14966-3;Q14966	.;.;.;ZN638_HUMAN	G	622;1043;1043;1043	ENSP00000348066:R1043G;ENSP00000264447:R1043G;ENSP00000386433:R1043G	ENSP00000264447:R1043G	R	+	1	2	ZNF638	71486892	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	5.314000	0.65804	2.073000	0.62155	0.377000	0.23210	AGA		0.343	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		14	40	0	0	0	0.024245	0	14	40				
BTBD8	284697	broad.mit.edu	37	1	92604948	92604948	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:92604948A>G	ENST00000342818.3	+	6	1030	c.794A>G	c.(793-795)tAt>tGt	p.Y265C	BTBD8_ENST00000540648.1_Missense_Mutation_p.Y265C|BTBD8_ENST00000370382.3_Missense_Mutation_p.Y265C	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	265	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)		CATTTTATATATGGAGGAACT	0.294																																						ENST00000370382.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16						c.(793-795)tAt>tGt		BTB (POZ) domain containing 8							114.0	123.0	120.0					1																	92604948		2203	4291	6494	SO:0001583	missense	284697					nucleus		g.chr1:92604948A>G	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.794A>G	1.37:g.92604948A>G	ENSP00000343686:p.Tyr265Cys					BTBD8_ENST00000540648.1_Missense_Mutation_p.Y265C|BTBD8_ENST00000342818.3_Missense_Mutation_p.Y265C	p.Y265C			Q5XKL5	BTBD8_HUMAN		all cancers(265;0.0153)|Epithelial(280;0.0982)	6	1061	+		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)	265			BTB 2.		Q6V9S5	Missense_Mutation	SNP	ENST00000342818.3	37	c.794A>G	CCDS737.1	.	.	.	.	.	.	.	.	.	.	A	18.60	3.659208	0.67586	.	.	ENSG00000189195	ENST00000370382;ENST00000342818;ENST00000540648	D;D;D	0.89343	-2.5;-2.5;-2.5	5.21	5.21	0.72293	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.50627	D	0.000108	D	0.95698	0.8601	H	0.96333	3.805	0.46678	D	0.999158	D	0.89917	1.0	D	0.85130	0.997	D	0.96914	0.9669	10	0.87932	D	0	-14.3324	13.607	0.62052	1.0:0.0:0.0:0.0	.	265	Q5XKL5	BTBD8_HUMAN	C	265	ENSP00000359408:Y265C;ENSP00000343686:Y265C;ENSP00000443397:Y265C	ENSP00000343686:Y265C	Y	+	2	0	BTBD8	92377536	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.616000	0.74205	2.100000	0.63781	0.533000	0.62120	TAT		0.294	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028372.1	NM_183242		22	97	0	0	0	0.018920	0	22	97				
HNRNPU	3192	broad.mit.edu	37	1	245021401	245021401	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:245021401A>G	ENST00000283179.9	-	7	1569	c.1406T>C	c.(1405-1407)aTa>aCa	p.I469T	HNRNPU_ENST00000444376.2_Missense_Mutation_p.I450T|HNRNPU-AS1_ENST00000475997.1_RNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	469					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CTCTTCAGGTATTGGAAAATA	0.438																																					NSCLC(33;911 1010 3329 23631 49995)	ENST00000444376.2																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1348-1350)aTa>aCa		heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)							74.0	70.0	71.0					1																	245021401		2203	4300	6503	SO:0001583	missense	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245021401A>G	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1406T>C	1.37:g.245021401A>G	ENSP00000283179:p.Ile469Thr					HNRNPU_ENST00000283179.9_Missense_Mutation_p.I469T	p.I450T	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		7	1583	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		469			B30.2/SPRY.		O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	ENST00000283179.9	37	c.1349T>C	CCDS41479.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.399780	0.42512	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948	T;T	0.47869	0.83;0.83	6.03	6.03	0.97812	.	0.260596	0.44483	D	0.000455	T	0.42359	0.1199	L	0.36672	1.1	0.39958	D	0.974621	P;P;P;B	0.49185	0.478;0.866;0.92;0.003	B;P;B;B	0.44811	0.056;0.461;0.379;0.004	T	0.27640	-1.0068	10	0.13853	T	0.58	-14.2151	16.5724	0.84622	1.0:0.0:0.0:0.0	.	394;450;469;193	B3KX72;Q00839-2;Q00839;Q5RI19	.;.;HNRPU_HUMAN;.	T	450;469;394	ENSP00000393151:I450T;ENSP00000283179:I469T	ENSP00000283179:I469T	I	-	2	0	HNRNPU	243088024	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.774000	0.62339	2.313000	0.78055	0.455000	0.32223	ATA		0.438	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		13	49	0	0	0	0.013537	0	13	49				
LRFN2	57497	broad.mit.edu	37	6	40360344	40360344	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr6:40360344C>T	ENST00000338305.6	-	3	2250	c.1708G>A	c.(1708-1710)Gcg>Acg	p.A570T		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	570						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTCACGGCCGCTGCCATCTTG	0.677																																						ENST00000338305.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1708-1710)Gcg>Acg		leucine rich repeat and fibronectin type III domain containing 2							46.0	41.0	43.0					6																	40360344		2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40360344C>T	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1708G>A	6.37:g.40360344C>T	ENSP00000345985:p.Ala570Thr						p.A570T	NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN			3	2250	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		570					A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.1708G>A	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	c	0.010	-1.777153	0.00640	.	.	ENSG00000156564	ENST00000338305	T	0.55930	0.49	4.88	4.01	0.46588	.	0.351137	0.32416	N	0.006134	T	0.11537	0.0281	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.28776	-1.0033	10	0.02654	T	1	.	8.9135	0.35568	0.0:0.8985:0.0:0.1015	.	570	Q9ULH4	LRFN2_HUMAN	T	570	ENSP00000345985:A570T	ENSP00000345985:A570T	A	-	1	0	LRFN2	40468322	0.452000	0.25713	0.008000	0.14137	0.179000	0.23085	1.942000	0.40243	1.267000	0.44247	0.651000	0.88453	GCG		0.677	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		7	41	0	0	0	0.004482	0	7	41				
RNF19B	127544	broad.mit.edu	37	1	33402524	33402524	+	Silent	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:33402524G>A	ENST00000373456.7	-	9	2081	c.2082C>T	c.(2080-2082)gcC>gcT	p.A694A	RNF19B_ENST00000356990.5_3'UTR|RNF19B_ENST00000235150.4_Silent_p.A693A	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	694					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TCGAGGGGCAGGCTGCAGTAT	0.587																																						ENST00000373456.7																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13						c.(2080-2082)gcC>gcT		ring finger protein 19B							83.0	87.0	86.0					1																	33402524		2203	4300	6503	SO:0001819	synonymous_variant	127544					integral to membrane	ligase activity|protein binding|zinc ion binding	g.chr1:33402524G>A	AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"""RING-type (C3HC4) zinc fingers"""	26886	protein-coding gene	gene with protein product		610872	"""IBR domain containing 3"""	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.2082C>T	1.37:g.33402524G>A						RNF19B_ENST00000235150.4_Silent_p.A693A|RNF19B_ENST00000356990.5_3'UTR	p.A694A	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN			9	2081	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	694					B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Silent	SNP	ENST00000373456.7	37	c.2082C>T	CCDS372.2																																																																																				0.587	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3	NM_153341		41	117	0	0	0	0.025465	0	41	117				
PLA2G4A	5321	broad.mit.edu	37	1	186946794	186946794	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:186946794T>A	ENST00000367466.3	+	16	1986	c.1834T>A	c.(1834-1836)Ttt>Att	p.F612I	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.F552I	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	612	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	TCCTTATGTGTTTGATCGGGA	0.418																																						ENST00000367466.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53						c.(1834-1836)Ttt>Att		phospholipase A2, group IVA (cytosolic, calcium-dependent)	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						126.0	114.0	118.0					1																	186946794		2203	4300	6503	SO:0001583	missense	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186946794T>A	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1834T>A	1.37:g.186946794T>A	ENSP00000356436:p.Phe612Ile					PLA2G4A_ENST00000442353.2_Missense_Mutation_p.F552I	p.F612I	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN			16	1986	+			612			PLA2c.		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	c.1834T>A	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.022882	0.93462	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.04862	3.54;3.54	5.76	5.76	0.90799	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.090949	0.85682	D	0.000000	T	0.16514	0.0397	L	0.42245	1.32	0.80722	D	1	D;D	0.71674	0.987;0.998	D;D	0.68621	0.935;0.959	T	0.07673	-1.0760	10	0.22109	T	0.4	-21.2317	15.2448	0.73499	0.0:0.0:0.0:1.0	.	552;612	E7EU42;P47712	.;PA24A_HUMAN	I	612;552	ENSP00000356436:F612I;ENSP00000406892:F552I	ENSP00000356436:F612I	F	+	1	0	PLA2G4A	185213417	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.587000	0.82613	2.197000	0.70478	0.533000	0.62120	TTT		0.418	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		23	77	0	0	0	0.018920	0	23	77				
PPP1R16B	26051	broad.mit.edu	37	20	37464808	37464808	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr20:37464808C>A	ENST00000299824.1	+	2	429	c.240C>A	c.(238-240)gaC>gaA	p.D80E	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.D80E|PPP1R16B_ENST00000468265.1_3'UTR	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	80					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				TGAGGAACGACGCCGAGGAAG	0.652																																						ENST00000299824.1																			0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(238-240)gaC>gaA		protein phosphatase 1, regulatory subunit 16B							26.0	28.0	28.0					20																	37464808		2188	4292	6480	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37464808C>A	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.240C>A	20.37:g.37464808C>A	ENSP00000299824:p.Asp80Glu					PPP1R16B_ENST00000468265.1_3'UTR|PPP1R16B_ENST00000373331.2_Missense_Mutation_p.D80E	p.D80E	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN			2	429	+		Myeloproliferative disorder(115;0.00878)	80					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.240C>A	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.23|18.23	3.577811|3.577811	0.65878|0.65878	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000299824;ENST00000373331|ENST00000438192	T;T|.	0.66995|.	-0.24;-0.24|.	5.09|5.09	1.6|1.6	0.23607|0.23607	Ankyrin repeat-containing domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58221|0.58221	0.2107|0.2107	L|L	0.54908|0.54908	1.71|1.71	0.50171|0.50171	D|D	0.99985|0.99985	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.53251|0.53251	-0.8465|-0.8465	10|5	0.66056|.	D|.	0.02|.	.|.	9.7236|9.7236	0.40317|0.40317	0.0:0.6787:0.0:0.3213|0.0:0.6787:0.0:0.3213	.|.	80;80|.	E9PFS8;Q96T49|.	.;PP16B_HUMAN|.	E|K	80|23	ENSP00000299824:D80E;ENSP00000362428:D80E|.	ENSP00000299824:D80E|.	D|T	+|+	3|2	2|0	PPP1R16B|PPP1R16B	36898222|36898222	0.001000|0.001000	0.12720|0.12720	1.000000|1.000000	0.80357|0.80357	0.904000|0.904000	0.53231|0.53231	-0.269000|-0.269000	0.08596|0.08596	0.547000|0.547000	0.28938|0.28938	-0.258000|-0.258000	0.10820|0.10820	GAC|ACG		0.652	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		12	41	1	0	6.72482e-11	0.024245	7.68551e-11	12	41				
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs377377382		TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532																																						ENST00000418868.1																			0																																																			220729							g.chr3:197348646T>C																													3.37:g.197348646T>C								NR_003266.2						0	613	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.532	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			5	80	0	0	0	0.029380	0	5	80				
NIPBL	25836	broad.mit.edu	37	5	37008756	37008756	+	Nonsense_Mutation	SNP	T	T	G	rs201882678		TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr5:37008756T>G	ENST00000282516.8	+	20	4851	c.4352T>G	c.(4351-4353)tTa>tGa	p.L1451*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.L1451*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1451					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CATAGGCAGTTAATTTTGGAA	0.279																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(4351-4353)tTa>tGa		Nipped-B homolog (Drosophila)							61.0	76.0	71.0					5																	37008756		2198	4286	6484	SO:0001587	stop_gained	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37008756T>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.4352T>G	5.37:g.37008756T>G	ENSP00000282516:p.Leu1451*					NIPBL_ENST00000448238.2_Nonsense_Mutation_p.L1451*	p.L1451*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		20	4851	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1451					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Nonsense_Mutation	SNP	ENST00000282516.8	37	c.4352T>G	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	T	43	10.349135	0.99388	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.01	3.81	0.43845	.	0.289563	0.28815	N	0.014042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0649	0.53581	0.0:0.0:0.1445:0.8555	.	.	.	.	X	1451	.	ENSP00000282516:L1451X	L	+	2	0	NIPBL	37044513	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	7.626000	0.83164	0.816000	0.34421	-0.435000	0.05868	TTA		0.279	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		24	116	0	0	0	0.037714	0	24	116				
ASPM	259266	broad.mit.edu	37	1	197091601	197091601	+	Missense_Mutation	SNP	G	G	A	rs201067420		TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:197091601G>A	ENST00000367409.4	-	14	3771	c.3515C>T	c.(3514-3516)aCg>aTg	p.T1172M	ASPM_ENST00000367408.1_Missense_Mutation_p.T422M|ASPM_ENST00000294732.7_Missense_Mutation_p.T1172M	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1172	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.T1172M(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACCAGTTTGCGTACATTCCAC	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		19208	0.001		0.0	False		,,,				2504	0.0					ENST00000367409.4																			1	Substitution - Missense(1)	p.T1172M(1)	endometrium(1)	breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(3514-3516)aCg>aTg		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							108.0	94.0	99.0					1																	197091601		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197091601G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3515C>T	1.37:g.197091601G>A	ENSP00000356379:p.Thr1172Met					ASPM_ENST00000294732.7_Missense_Mutation_p.T1172M|ASPM_ENST00000367408.1_Missense_Mutation_p.T422M	p.T1172M	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			14	3771	-			1172			CH 2.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.3515C>T	CCDS1389.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.69	1.420472	0.25639	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.58652	0.32;1.59;1.31	5.96	4.11	0.48088	Calmodulin-regulated spectrin-associated protein, CH domain (1);Calponin homology domain (3);	0.648225	0.15474	N	0.260459	T	0.39410	0.1077	L	0.29908	0.895	0.09310	N	1	B;P	0.40660	0.161;0.726	B;B	0.31495	0.058;0.131	T	0.21348	-1.0248	10	0.52906	T	0.07	.	8.5021	0.33163	0.1337:0.1258:0.7405:0.0	.	1172;1172	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	M	1172;1172;422	ENSP00000356379:T1172M;ENSP00000294732:T1172M;ENSP00000356378:T422M	ENSP00000294732:T1172M	T	-	2	0	ASPM	195358224	0.697000	0.27767	0.003000	0.11579	0.874000	0.50279	3.915000	0.56409	0.877000	0.35895	-0.224000	0.12420	ACG		0.413	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		9	38	0	0	0	0.010729	0	9	38				
TPP2	7174	broad.mit.edu	37	13	103295686	103295686	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr13:103295686T>C	ENST00000376065.4	+	17	2171	c.2135T>C	c.(2134-2136)cTt>cCt	p.L712P	TPP2_ENST00000376052.3_Missense_Mutation_p.L712P	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	712					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTTGTTCTCTTCCAGAGAAA	0.373																																						ENST00000376052.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52						c.(2134-2136)cTt>cCt		tripeptidyl peptidase II							95.0	87.0	89.0					13																	103295686		2203	4300	6503	SO:0001583	missense	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103295686T>C	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.2135T>C	13.37:g.103295686T>C	ENSP00000365233:p.Leu712Pro					TPP2_ENST00000376065.4_Missense_Mutation_p.L712P	p.L712P			P29144	TPP2_HUMAN			17	2151	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		712					Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	c.2135T>C	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	T	18.49	3.636348	0.67130	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.76976	0.4063	M	0.70275	2.135	0.80722	D	1	D	0.71674	0.998	D	0.62955	0.909	T	0.79736	-0.1678	9	0.87932	D	0	.	16.3892	0.83528	0.0:0.0:0.0:1.0	.	712	P29144	TPP2_HUMAN	P	712	.	ENSP00000365220:L712P	L	+	2	0	TPP2	102093687	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.598000	0.82745	2.330000	0.79161	0.477000	0.44152	CTT		0.373	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			12	32	0	0	0	0.016723	0	12	32				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522727	95522727	+	RNA	SNP	C	C	A	rs201214605		TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr2:95522727C>A	ENST00000432432.2	-	0	300					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.R64L(2)									CTGCTTGTCCCGGGCGTCCAG	0.731																																						ENST00000432432.2																			2	Substitution - Missense(2)	p.R64L(2)	lung(1)|kidney(1)																																																729171							g.chr2:95522727C>A			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522727C>A								NR_040113.1						0	300	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.731	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	39	1	0	8.12818e-05	0.029380	8.36962e-05	3	39				
YWHAB	7529	broad.mit.edu	37	20	43530339	43530339	+	Silent	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr20:43530339C>T	ENST00000372839.3	+	3	439	c.165C>T	c.(163-165)ggC>ggT	p.G55G	YWHAB_ENST00000479421.1_3'UTR|YWHAB_ENST00000353703.4_Silent_p.G55G	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta	55					activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cytoplasmic sequestering of protein (GO:0051220)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|MAPK cascade (GO:0000165)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of catalytic activity (GO:0043085)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein heterooligomerization (GO:0051291)|protein targeting (GO:0006605)|Ras protein signal transduction (GO:0007265)|RNA metabolic process (GO:0016070)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				ATGTGGTAGGCGCCCGCCGCT	0.512																																						ENST00000372839.3																			0				breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12						c.(163-165)ggC>ggT		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide							57.0	55.0	56.0					20																	43530339		2203	4300	6503	SO:0001819	synonymous_variant	7529				activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding	g.chr20:43530339C>T	X57346	CCDS13339.1	20q13.1	2013-12-03	2013-12-03		ENSG00000166913	ENSG00000166913			12849	protein-coding gene	gene with protein product	"""14-3-3 beta"", ""14-3-3 alpha"""	601289	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide"""	YWHAA		8617504, 7890696	Standard	NM_003404		Approved		uc002xmu.3	P31946	OTTHUMG00000032549	ENST00000372839.3:c.165C>T	20.37:g.43530339C>T						YWHAB_ENST00000479421.1_3'UTR|YWHAB_ENST00000353703.4_Silent_p.G55G	p.G55G	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN			3	439	+		Myeloproliferative disorder(115;0.0122)	55					A8K9K2|E1P616	Silent	SNP	ENST00000372839.3	37	c.165C>T	CCDS13339.1																																																																																				0.512	YWHAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079386.3	NM_003404		23	41	0	0	0	0.016522	0	23	41				
MUC16	94025	broad.mit.edu	37	19	8966769	8966769	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr19:8966769A>G	ENST00000397910.4	-	81	43387	c.43184T>C	c.(43183-43185)tTc>tCc	p.F14395S	MUC16_ENST00000380951.5_Missense_Mutation_p.F1036S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14493				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTGGCGAGAAGTTACACAG	0.527																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(43183-43185)tTc>tCc		mucin 16, cell surface associated							28.0	31.0	30.0					19																	8966769		1955	4132	6087	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8966769A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.43184T>C	19.37:g.8966769A>G	ENSP00000381008:p.Phe14395Ser					MUC16_ENST00000380951.5_Missense_Mutation_p.F1036S	p.F14395S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			81	43387	-			14493	Missing (in Ref. 3; AAK74120).				Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.43184T>C	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	10.46|10.46	1.355882|1.355882	0.24598|0.24598	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.58358|.	0.34;0.34|.	4.22|4.22	3.19|3.19	0.36642|0.36642	SEA (2);|.	.|1.724340	.|0.03366	.|N	.|0.198180	T|T	0.33235|0.33235	0.0856|0.0856	N|N	0.24115|0.24115	0.695|0.695	.|.	.|.	.|.	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.81914|.	0.992;0.995|.	T|T	0.30880|0.30880	-0.9963|-0.9963	8|5	0.62326|.	D|.	0.03|.	.|.	7.0143|7.0143	0.24879|0.24879	0.7976:0.0:0.0:0.2024|0.7976:0.0:0.0:0.2024	.|.	22040;14395|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	S|P	14395;1036|1218	ENSP00000381008:F14395S;ENSP00000370338:F1036S|.	ENSP00000370338:F1036S|.	F|S	-|-	2|1	0|0	MUC16|MUC16	8827769|8827769	0.998000|0.998000	0.40836|0.40836	0.184000|0.184000	0.23157|0.23157	0.018000|0.018000	0.09664|0.09664	1.475000|1.475000	0.35409|0.35409	0.758000|0.758000	0.33059|0.33059	-0.340000|-0.340000	0.08031|0.08031	TTC|TCT		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		2	7	0	0	0	0.004672	0	2	7				
FAHD2A	51011	broad.mit.edu	37	2	96072879	96072879	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr2:96072879G>A	ENST00000233379.4	+	3	589	c.436G>A	c.(436-438)Gag>Aag	p.E146K	FAHD2A_ENST00000447036.1_Missense_Mutation_p.E146K	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	146							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						GCCCTATGATGAGGTGGTCCT	0.562																																						ENST00000233379.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						c.(436-438)Gag>Aag		fumarylacetoacetate hydrolase domain containing 2A							86.0	85.0	85.0					2																	96072879		2203	4300	6503	SO:0001583	missense	51011						hydrolase activity|metal ion binding	g.chr2:96072879G>A	AF151863	CCDS2014.1	2q11.2	2008-02-05			ENSG00000115042	ENSG00000115042			24252	protein-coding gene	gene with protein product							Standard	NM_016044		Approved	CGI-105	uc002sur.3	Q96GK7	OTTHUMG00000130397	ENST00000233379.4:c.436G>A	2.37:g.96072879G>A	ENSP00000233379:p.Glu146Lys					FAHD2A_ENST00000447036.1_Missense_Mutation_p.E146K	p.E146K	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN			3	589	+			146					Q9Y3B0	Missense_Mutation	SNP	ENST00000233379.4	37	c.436G>A	CCDS2014.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607790	0.28623	.	.	ENSG00000115042	ENST00000447036;ENST00000233379	D;D	0.95001	-3.58;-3.58	3.35	1.45	0.22620	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.895501	0.09699	N	0.767293	D	0.85296	0.5664	N	0.11673	0.155	0.09310	N	0.999998	B	0.06786	0.001	B	0.12156	0.007	T	0.73385	-0.3999	10	0.31617	T	0.26	.	4.0393	0.09743	0.2356:0.1952:0.5691:0.0	.	146	Q96GK7	FAH2A_HUMAN	K	146	ENSP00000406424:E146K;ENSP00000233379:E146K	ENSP00000233379:E146K	E	+	1	0	FAHD2A	95436606	0.968000	0.33430	0.003000	0.11579	0.856000	0.48823	2.653000	0.46691	0.208000	0.20626	0.561000	0.74099	GAG		0.562	FAHD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252778.1	NM_016044		18	88	0	0	0	0.012319	0	18	88				
PIEZO2	63895	broad.mit.edu	37	18	10691302	10691302	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr18:10691302G>A	ENST00000503781.3	-	44	6930	c.6931C>T	c.(6931-6933)Cgt>Tgt	p.R2311C	PIEZO2_ENST00000580640.1_Missense_Mutation_p.R2336C|PIEZO2_ENST00000302079.6_Missense_Mutation_p.R2311C|PIEZO2_ENST00000538948.1_Missense_Mutation_p.R268C|PIEZO2_ENST00000285141.4_Missense_Mutation_p.R166C	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2311					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										TAGCCACAACGGATCTGGTAA	0.468																																						ENST00000302079.6																			0											c.(6931-6933)Cgt>Tgt		piezo-type mechanosensitive ion channel component 2							115.0	99.0	105.0					18																	10691302		2203	4300	6503	SO:0001583	missense	63895					integral to membrane	ion channel activity	g.chr18:10691302G>A	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.6931C>T	18.37:g.10691302G>A	ENSP00000421377:p.Arg2311Cys					PIEZO2_ENST00000503781.3_Missense_Mutation_p.R2311C|PIEZO2_ENST00000538948.1_Missense_Mutation_p.R268C|PIEZO2_ENST00000580640.1_Missense_Mutation_p.R2336C|PIEZO2_ENST00000285141.4_Missense_Mutation_p.R166C	p.R2311C			Q9H5I5	PIEZ2_HUMAN			44	6930	-			2311					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	ENST00000503781.3	37	c.6931C>T		.	.	.	.	.	.	.	.	.	.	G	26.3	4.721729	0.89298	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	T;T;T	0.79033	-1.23;-1.23;-1.03	5.62	4.69	0.59074	.	0.146541	0.48286	D	0.000189	D	0.87042	0.6079	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	D	0.85894	0.1430	10	0.36615	T	0.2	.	15.6653	0.77225	0.0:0.0:0.8624:0.1376	.	268	D6RFZ0	.	C	268;2311;268;166	ENSP00000303316:R2311C;ENSP00000443129:R268C;ENSP00000285141:R166C	ENSP00000285141:R166C	R	-	1	0	FAM38B	10681302	1.000000	0.71417	0.999000	0.59377	0.861000	0.49209	6.518000	0.73764	2.804000	0.96469	0.655000	0.94253	CGT		0.468	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		28	69	0	0	0	0.027356	0	28	69				
PPIL1	51645	broad.mit.edu	37	6	36824426	36824426	+	Silent	SNP	T	T	C			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr6:36824426T>C	ENST00000373699.5	-	3	467	c.216A>G	c.(214-216)cgA>cgG	p.R72R	PPIL1_ENST00000483552.1_5'UTR	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1	72	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			lung(1)|ovary(1)	2						ATGCACCACCTCGACCTGCCC	0.458																																						ENST00000373699.5																			0				lung(1)|ovary(1)	2						c.(214-216)cgA>cgG		peptidylprolyl isomerase (cyclophilin)-like 1							105.0	93.0	97.0					6																	36824426		2203	4300	6503	SO:0001819	synonymous_variant	51645				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr6:36824426T>C	AF090992	CCDS4826.1	6p21.1	2008-08-29			ENSG00000137168	ENSG00000137168			9260	protein-coding gene	gene with protein product		601301				10072585, 8978786	Standard	NM_016059		Approved	CYPL1	uc003omu.2	Q9Y3C6	OTTHUMG00000014612	ENST00000373699.5:c.216A>G	6.37:g.36824426T>C						PPIL1_ENST00000483552.1_5'UTR	p.R72R	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN			3	467	-			72			PPIase cyclophilin-type.		O15001|Q5TDC9	Silent	SNP	ENST00000373699.5	37	c.216A>G	CCDS4826.1																																																																																				0.458	PPIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040382.1			12	45	0	0	0	0.013537	0	12	45				
PDE4DIP	9659	broad.mit.edu	37	1	144923767	144923767	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:144923767T>C	ENST00000369354.3	-	6	880	c.691A>G	c.(691-693)Ata>Gta	p.I231V	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.I368V|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.I394V|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.I231V|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.I297V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.I231V|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.I18V|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.I231V|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.I394V|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.I368V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	231					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCTGAGTTATAGTGGTCTCA	0.448			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(1180-1182)Ata>Gta		phosphodiesterase 4D interacting protein							318.0	282.0	294.0					1																	144923767		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144923767T>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.691A>G	1.37:g.144923767T>C	ENSP00000358360:p.Ile231Val					PDE4DIP_ENST00000479408.2_Missense_Mutation_p.I18V|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.I231V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.I368V|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.I394V|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.I368V|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.I231V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.I231V|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.I231V|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.I297V	p.I394V			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	2	1619	-			231					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.1180A>G	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	1.437	-0.568631	0.03910	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.10668	4.82;4.94;4.91;4.91;4.91;3.94;3.94;2.87;2.87;2.85	6.03	-0.273	0.12915	.	.	.	.	.	T	0.01835	0.0058	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B	0.16166	0.004;0.0;0.001;0.016;0.001	B;B;B;B;B	0.13407	0.006;0.0;0.002;0.009;0.0	T	0.48210	-0.9055	9	0.07482	T	0.82	.	6.0862	0.19968	0.0:0.454:0.1635:0.3825	.	394;231;394;297;231	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	V	297;231;231;394;368;368;231;231;394;394;18	ENSP00000327209:I297V;ENSP00000358360:I231V;ENSP00000358363:I231V;ENSP00000435654:I368V;ENSP00000358366:I368V;ENSP00000358357:I231V;ENSP00000358355:I231V;ENSP00000316434:I394V;ENSP00000433392:I394V;ENSP00000436791:I18V	ENSP00000327209:I297V	I	-	1	0	PDE4DIP	143635124	0.000000	0.05858	0.000000	0.03702	0.872000	0.50106	-0.155000	0.10115	-0.062000	0.13088	0.533000	0.62120	ATA		0.448	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		32	221	0	0	0	0.045705	0	32	221				
TH	7054	broad.mit.edu	37	11	2190937	2190937	+	Silent	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr11:2190937G>A	ENST00000381178.1	-	3	366	c.348C>T	c.(346-348)ctC>ctT	p.L116L	TH_ENST00000333684.5_Silent_p.L89L|TH_ENST00000352909.3_Silent_p.L85L|TH_ENST00000381175.1_Silent_p.L112L	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	116					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	TCGGGGAGAAGAGCAGGTTTA	0.672																																						ENST00000381178.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11						c.(346-348)ctC>ctT		tyrosine hydroxylase	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)						63.0	67.0	65.0					11																	2190937		2202	4299	6501	SO:0001819	synonymous_variant	7054				dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	g.chr11:2190937G>A	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.348C>T	11.37:g.2190937G>A						TH_ENST00000381175.1_Silent_p.L112L|TH_ENST00000333684.5_Silent_p.L89L|TH_ENST00000352909.3_Silent_p.L85L	p.L116L	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	3	366	-		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	116					B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Silent	SNP	ENST00000381178.1	37	c.348C>T	CCDS7731.1																																																																																				0.672	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		30	71	0	0	0	0.017118	0	30	71				
TFAP2A	7020	broad.mit.edu	37	6	10415240	10415240	+	De_novo_Start_InFrame	SNP	G	G	C			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr6:10415240G>C	ENST00000482890.1	-	0	331				TFAP2A-AS1_ENST00000420777.1_RNA|TFAP2A-AS1_ENST00000443546.1_RNA|TFAP2A_ENST00000319516.4_Intron|TFAP2A_ENST00000379608.3_5'Flank|TFAP2A_ENST00000379613.3_De_novo_Start_InFrame|TFAP2A_ENST00000379604.2_De_novo_Start_InFrame			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)						anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GGCGTGAACGGATATGCCCCT	0.592											OREG0017182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000379613.3																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13								transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)							127.0	104.0	112.0					6																	10415240		2203	4300	6503			7020				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr6:10415240G>C	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235		6.37:g.10415240G>C			OREG0017182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	664	TFAP2A_ENST00000319516.4_Intron|TFAP2A_ENST00000379604.2_De_novo_Start_InFrame|RP1-290I10.6_ENST00000443546.1_RNA|RP1-290I10.6_ENST00000420777.1_RNA|TFAP2A_ENST00000482890.1_De_novo_Start_InFrame				P05549	AP2A_HUMAN			0	241	-	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)						Q13777|Q5TAV5|Q8N1C6	Translation_Start_Site	SNP	ENST00000482890.1	37		CCDS4510.1																																																																																				0.592	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220		14	66	0	0	0	0.020292	0	14	66				
CASZ1	54897	broad.mit.edu	37	1	10715709	10715710	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:10715709_10715710insA	ENST00000377022.3	-	9	1978_1979	c.1661_1662insT	c.(1660-1662)atgfs	p.M554fs	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Frame_Shift_Ins_p.M554fs	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	554					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GAGGCACCTGCATGCAGTGATA	0.678																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(1660-1662)acafs		castor zinc finger 1																																				SO:0001589	frameshift_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10715709_10715710insA	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1662dupT	1.37:g.10715710_10715710dupA	ENSP00000366221:p.Met554fs					CASZ1_ENST00000344008.5_Frame_Shift_Ins_p.T554fs	p.T554fs	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	9	1978_1979	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	554					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Frame_Shift_Ins	INS	ENST00000377022.3	37	c.1661_1662insT	CCDS41246.1																																																																																				0.678	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		18	11						18	11	---	---	---	---
A3GALT2	127550	broad.mit.edu	37	1	33772519	33772519	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:33772519delC	ENST00000442999.3	-	5	870	c.871delG	c.(871-873)gagfs	p.E291fs	RP11-415J8.3_ENST00000457957.2_RNA|A3GALT2_ENST00000330379.5_Frame_Shift_Del_p.E236fs|RP11-415J8.3_ENST00000588828.1_RNA	NM_001080438.1	NP_001073907.1			alpha 1,3-galactosyltransferase 2														Myeloproliferative disorder(586;0.0393)				AGGTGGCTCTCGTCGTGCCAG	0.736																																						ENST00000442999.3																			0											c.(871-873)agfs		alpha 1,3-galactosyltransferase 2							5.0	6.0	5.0					1																	33772519		1782	3827	5609	SO:0001589	frameshift_variant	127550							g.chr1:33772519delC		CCDS60080.1	1p35.1	2013-09-05	2013-03-11	2013-03-11	ENSG00000184389	ENSG00000184389		"""Glycosyltransferase family 6 domain containing"""	30005	protein-coding gene	gene with protein product	"""iGb3 synthase"", ""isoglobotriaosylceramide synthase"""		"""alpha 1,3-galactosyltransferase 2, pseudogene"""	A3GALT2P		10854427, 18630988	Standard	NM_001080438		Approved	IGBS3S	uc031plq.1		OTTHUMG00000004125	ENST00000442999.3:c.871delG	1.37:g.33772519delC	ENSP00000475261:p.Glu291fs					A3GALT2_ENST00000330379.5_Frame_Shift_Del_p.E236fs	p.E291fs	NM_001080438.1	NP_001073907.1					5	870	-		Myeloproliferative disorder(586;0.0393)							Frame_Shift_Del	DEL	ENST00000442999.3	37	c.871delG																																																																																					0.736	A3GALT2-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000011861.3	NM_001080438		2	4						2	4	---	---	---	---
TRIM59	286827	broad.mit.edu	37	3	160156068	160156069	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr3:160156068_160156069delTG	ENST00000309784.4	-	3	1088_1089	c.903_904delCA	c.(901-906)ctcattfs	p.I302fs	TRIM59_ENST00000543469.1_Frame_Shift_Del_p.I302fs|RP11-432B6.3_ENST00000483754.1_Frame_Shift_Del_p.I302fs	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	302					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATTTTGGGAATGAGAACGTTCT	0.342																																						ENST00000543469.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15						c.(901-906)ctttfs		tripartite motif containing 59																																				SO:0001589	frameshift_variant	286827					integral to membrane|intracellular	zinc ion binding	g.chr3:160156068_160156069delTG	AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	30834	protein-coding gene	gene with protein product			"""tripartite motif-containing 57"", ""tripartite motif-containing 59"""	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.903_904delCA	3.37:g.160156068_160156069delTG	ENSP00000311219:p.Ile302fs					TRIM59_ENST00000309784.4_Frame_Shift_Del_p.LI301fs|RP11-432B6.3_ENST00000483754.1_Frame_Shift_Del_p.LI301fs	p.LI301fs			Q8IWR1	TRI59_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		2	1117_1118	-			301					A8K5G9|D3DNL9	Frame_Shift_Del	DEL	ENST00000309784.4	37	c.903_904delCA	CCDS3190.1																																																																																				0.342	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1	NM_173084		27	110						27	110	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145008578	145008579	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr8:145008578_145008579insG	ENST00000322810.4	-	11	1656_1657	c.1487_1488insC	c.(1486-1488)cctfs	p.P496fs	PLEC_ENST00000345136.3_Frame_Shift_Ins_p.P359fs|PLEC_ENST00000356346.3_Frame_Shift_Ins_p.P345fs|PLEC_ENST00000527096.1_Frame_Shift_Ins_p.P382fs|PLEC_ENST00000354958.2_Frame_Shift_Ins_p.P337fs|PLEC_ENST00000436759.2_Frame_Shift_Ins_p.P386fs|PLEC_ENST00000354589.3_Frame_Shift_Ins_p.P359fs|PLEC_ENST00000357649.2_Frame_Shift_Ins_p.P363fs|PLEC_ENST00000398774.2_Frame_Shift_Ins_p.P327fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	496	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGTGGTAGCCAGGGGGCACCTT	0.673																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(1486-1488)cggfs		plectin																																				SO:0001589	frameshift_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145008578_145008579insG	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.1488dupC	8.37:g.145008583_145008583dupG	ENSP00000323856:p.Pro496fs					PLEC_ENST00000398774.2_Frame_Shift_Ins_p.R327fs|PLEC_ENST00000356346.3_Frame_Shift_Ins_p.R345fs|PLEC_ENST00000354958.2_Frame_Shift_Ins_p.R337fs|PLEC_ENST00000436759.2_Frame_Shift_Ins_p.R386fs|PLEC_ENST00000354589.3_Frame_Shift_Ins_p.R359fs|PLEC_ENST00000345136.3_Frame_Shift_Ins_p.R359fs|PLEC_ENST00000357649.2_Frame_Shift_Ins_p.R363fs|PLEC_ENST00000527096.1_Frame_Shift_Ins_p.R382fs	p.R496fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			11	1656_1657	-			496			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Frame_Shift_Ins	INS	ENST00000322810.4	37	c.1487_1488insC	CCDS43772.1																																																																																				0.673	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		35	73						35	73	---	---	---	---
POTEG	404785	broad.mit.edu	37	14	19553545	19553545	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr14:19553545delG	ENST00000409832.3	+	1	181	c.129delG	c.(127-129)gtgfs	p.V43fs		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	43										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGAGCAACGTGGGCACTTCTG	0.602																																						ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(127-129)gtfs		POTE ankyrin domain family, member G							33.0	48.0	43.0					14																	19553545		1699	3512	5211	SO:0001589	frameshift_variant	404785							g.chr14:19553545delG		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.129delG	14.37:g.19553545delG	ENSP00000386971:p.Val43fs						p.V43fs	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			1	181	+			43					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Frame_Shift_Del	DEL	ENST00000409832.3	37	c.129delG	CCDS32018.1																																																																																				0.602	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		48	619						48	619	---	---	---	---
RGS9	8787	broad.mit.edu	37	17	63223491	63223491	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr17:63223491delA	ENST00000262406.9	+	19	2058	c.1991delA	c.(1990-1992)gaafs	p.E664fs	RGS9_ENST00000449996.3_Frame_Shift_Del_p.E661fs	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	664					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CGGGCCACAGAAAAGGAGGTC	0.582																																						ENST00000449996.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						c.(1981-1983)gafs		regulator of G-protein signaling 9							44.0	48.0	47.0					17																	63223491		1953	4160	6113	SO:0001589	frameshift_variant	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63223491delA	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1991delA	17.37:g.63223491delA	ENSP00000262406:p.Glu664fs					RGS9_ENST00000262406.9_Frame_Shift_Del_p.E664fs	p.E661fs	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN			19	2054	+			664					A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Frame_Shift_Del	DEL	ENST00000262406.9	37	c.1982delA	CCDS42373.1																																																																																				0.582	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		13	36						13	36	---	---	---	---
CTC-513N18.6	0	broad.mit.edu	37	19	20635101	20635102	+	lincRNA	INS	-	-	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr19:20635101_20635102insT	ENST00000598131.1	+	0	256																											ACAGGTAGGTGTTTTTTTTGCT	0.416																																						ENST00000598131.1																			0																																																			0							g.chr19:20635101_20635102insT																													19.37:g.20635109_20635109dupT														0	256	+									RNA	INS	ENST00000598131.1	37																																																																																						0.416	CTC-513N18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000463072.1			3	4						3	4	---	---	---	---
