#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc001aro.2		NA																	0				skin(1)	1						c.(886-888)TCG>TTG		castor homolog 1, zinc finger isoform a							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_uc001arp.1_Missense_Mutation_p.S296L|CASZ1_uc009vmx.2_Missense_Mutation_p.S320L|CASZ1_uc001arq.1_Missense_Mutation_p.S155L	p.S296L	NM_001079843	NP_001073312	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	1207	-	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	85	68				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000311066.5_Silent_p.A159A|PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000376048.5_Silent_p.A159A|PRDM2_ENST00000503842.1_5'UTR|PRDM2_ENST00000505823.1_5'UTR|PRDM2_ENST00000343137.4_5'UTR|PRDM2_ENST00000413440.1_5'UTR	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																																						uc001avi.2		NA																	0				ovary(1)	1						c.(475-477)GCC>GCA		retinoblastoma protein-binding zinc finger							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_uc001avg.2_Silent_p.A159A|PRDM2_uc001avh.2_Silent_p.A159A|PRDM2_uc001avj.2_RNA|PRDM2_uc009vod.1_5'UTR|PRDM2_uc001avk.2_5'UTR|PRDM2_uc009voe.2_RNA|PRDM2_uc009vof.2_RNA	p.A159A	NM_012231	NP_036363	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	A->V: Reduced histone methyltransferase activity.				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	2.18e-05	2.38e-05	8	13				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc010oho.1		NA																	0					0						c.(2080-2082)GCC>GCT		ring finger protein 19B isoform a							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_uc001bwm.3_3'UTR|RNF19B_uc010ohp.1_Silent_p.A693A	p.A694A	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN			9	2082	-		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	41	117				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc001dmt.2		NA																	0				ovary(1)|pancreas(1)	2						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_uc010oss.1_Translation_Start_Site|GBP3_uc001dmu.2_Translation_Start_Site|GBP3_uc001dmv.2_RNA	p.S73C	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN		all cancers(265;0.0103)|Epithelial(280;0.0293)	3	423	-		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	33	98				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc001doo.2		NA																	0				ovary(1)	1						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_uc010otc.1_RNA	p.Y265C	NM_183242	NP_899065	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	22	97				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc001dvx.2		NA																	0				ovary(1)|skin(1)	2						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_uc010ova.1_Missense_Mutation_p.C141R	p.C374R	NM_001144937	NP_001138409	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	1120	+		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	44	131				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000369359.4_Missense_Mutation_p.I368V|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.I231V|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.I394V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.I368V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.I231V|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.I297V|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.I18V|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.I394V|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.I231V			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																																	uc001elw.3		NA		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(691-693)ATA>GTA		phosphodiesterase 4D interacting protein isoform							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					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.I297V|PDE4DIP_uc001emc.1_Missense_Mutation_p.I231V|PDE4DIP_uc001emd.1_Missense_Mutation_p.I231V|PDE4DIP_uc001emb.1_Missense_Mutation_p.I394V|PDE4DIP_uc001eme.1_5'Flank|PDE4DIP_uc001emf.1_Missense_Mutation_p.I18V	p.I231V	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	6	982	-			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.691A>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	32	221				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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					uc001fff.1		NA																	0					0						c.(889-891)AGC>AGT		ubiquitin-conjugating enzyme E2Q		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	NP_060052	Q7Z7E8	UB2Q1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		8	982	-	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	18	98				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc001gsc.2		NA																	0				lung(2)|breast(1)	3						c.(1834-1836)TTT>ATT		cytosolic phospholipase A2, group IVA	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_uc010pos.1_Missense_Mutation_p.F552I	p.F612I	NM_024420	NP_077734	P47712	PA24A_HUMAN			16	2039	+			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	23	77				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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					uc001gtu.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(4)|central_nervous_system(2)	6						c.(3514-3516)ACG>ATG		asp (abnormal spindle)-like, microcephaly							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_uc001gtv.2_Missense_Mutation_p.T1172M|ASPM_uc001gtw.3_Intron	p.T1172M	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			14	3772	-			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	9	38				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc001hys.2		NA																	0					0						c.(85-87)GCC>ACC		gremlin 2 precursor							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	NP_071914	Q9H772	GREM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0123)		2	365	-		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	10	17				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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)	uc001iaz.1		NA																	0					0						c.(1405-1407)ATA>ACA		heterogeneous nuclear ribonucleoprotein U							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_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Missense_Mutation_p.I193T|HNRNPU_uc001iba.1_Missense_Mutation_p.I450T|HNRNPU_uc001ibb.1_Missense_Mutation_p.I157T	p.I469T	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		7	1624	-	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					O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	ENST00000283179.9	37	c.1406T>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	13	49				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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)																												uc001kfb.2		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.R55fs*1(4)|p.H93Y(3)|p.H93Q(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.H93D(1)|p.H93R(1)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F90_P95>L(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)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	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|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|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	NP_000305	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)	6	1309	+		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->A: 75% reduction in phosphatase activity towards PtdIns(3,4,5)P3. Modest reduction in phosphatase activity towards PtdIns(3,4)P2.	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	21	63				
TLL2	7093	broad.mit.edu	37	10	98155039	98155039	+	Missense_Mutation	SNP	G	G	A	rs140011074	byFrequency	TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr10:98155039G>A	ENST00000357947.3	-	13	1856	c.1631C>T	c.(1630-1632)cCg>cTg	p.P544L	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	544	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CACATCCTCCGGCTTCTCATA	0.507																																						uc001kml.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1630-1632)CCG>CTG		tolloid-like 2 precursor			LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	81.0	83.0	82.0		1631	5.3	1.0	10	dbSNP_134	82	0,8600		0,0,4300	yes	missense	TLL2	NM_012465.3	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	544/1016	98155039	1,13005	2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98155039G>A	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1631C>T	10.37:g.98155039G>A	ENSP00000350630:p.Pro544Leu					TLL2_uc009xvf.1_Missense_Mutation_p.P522L	p.P544L	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	13	1857	-		Colorectal(252;0.0846)	544			CUB 2.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.1631C>T	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048907	0.93740	2.27E-4	0.0	ENSG00000095587	ENST00000357947	T	0.39406	1.08	5.27	5.27	0.74061	CUB (5);	0.000000	0.45361	D	0.000371	T	0.73552	0.3601	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80236	-0.1466	10	0.87932	D	0	.	18.0523	0.89353	0.0:0.0:1.0:0.0	.	544	Q9Y6L7	TLL2_HUMAN	L	544	ENSP00000350630:P544L	ENSP00000350630:P544L	P	-	2	0	TLL2	98145029	1.000000	0.71417	0.965000	0.40720	0.707000	0.40811	9.598000	0.98277	2.746000	0.94184	0.561000	0.74099	CCG		0.507	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			4	87	0	0	0	0	4	87				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc001lvq.2		NA																	0					0						c.(346-348)CTC>CTT		tyrosine hydroxylase isoform a	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_uc001lvp.2_Silent_p.L112L|TH_uc001lvr.2_Silent_p.L85L|TH_uc010qxj.1_Silent_p.L89L|TH_uc001lvs.2_Silent_p.L85L|TH_uc001lvt.2_Silent_p.L89L|TH_uc009ydh.1_5'Flank	p.L116L	NM_199292	NP_954986	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	367	-		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	30	71				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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)	uc010qzy.1		NA																	0					0						c.(412-414)CTA>TTA		olfactory receptor, family 52, subfamily B,							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							p.L138L	NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	412	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	138			Cytoplasmic (Potential).		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	9	49				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc001mnc.2		NA																	0				ovary(1)	1						c.(3118-3120)GCC>ACC		ATP-binding cassette, sub-family C, 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						p.A1040T	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	25	3244	-			1040			ABC transmembrane type-1 2.|Extracellular (By similarity).		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.3118G>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	6	87				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc001mra.2		NA																	0				ovary(1)|skin(1)	2						c.(352-354)CGA>TGA		solute carrier family 5 (sodium/glucose							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_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Nonsense_Mutation_p.R118*	p.R118*	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN			2	665	-			118			Cytoplasmic (Potential).		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	60	189				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000299240.6_Missense_Mutation_p.A232S|TTC17_ENST00000526774.1_3'UTR|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																																						uc001mxi.2		NA																	0				ovary(5)	5						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_uc001mxh.2_Missense_Mutation_p.A232S|TTC17_uc010rfj.1_Missense_Mutation_p.A175S|TTC17_uc001mxj.2_Missense_Mutation_p.A2S	p.A232S	NM_018259	NP_060729	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	0.000330281	15	66				
FAT3	120114	broad.mit.edu	37	11	92613978	92613978	+	Missense_Mutation	SNP	G	G	A	rs201379307	byFrequency	TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr11:92613978G>A	ENST00000298047.6	+	22	12226	c.12209G>A	c.(12208-12210)cGg>cAg	p.R4070Q	FAT3_ENST00000409404.2_Missense_Mutation_p.R4070Q|FAT3_ENST00000533797.1_Missense_Mutation_p.R405Q|FAT3_ENST00000525166.1_Missense_Mutation_p.R3920Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4070	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AACCCCTGCCGGAATGGAGGA	0.478										TCGA Ovarian(4;0.039)			G|||	2	0.000399361	0.0008	0.0	5008	,	,		19409	0.0		0.001	False		,,,				2504	0.0					uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(12208-12210)CGG>CAG		FAT tumor suppressor homolog 3		G	GLN/ARG	2,3834		0,2,1916	187.0	190.0	189.0		12209	3.2	1.0	11		189	3,8227		0,3,4112	yes	missense	FAT3	NM_001008781.2	43	0,5,6028	AA,AG,GG		0.0365,0.0521,0.0414	benign	4070/4558	92613978	5,12061	1918	4115	6033	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92613978G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12209G>A	11.37:g.92613978G>A	ENSP00000298047:p.Arg4070Gln	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Missense_Mutation_p.R510Q	p.R4070Q	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			22	12226	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4070			EGF-like 3.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.12209G>A		.	.	.	.	.	.	.	.	.	.	G	12.93	2.086495	0.36855	5.21E-4	3.65E-4	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9	6.16	3.25	0.37280	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.89283	0.6671	N	0.00419	-1.52	0.80722	D	1	B;B	0.24618	0.107;0.015	B;B	0.18871	0.023;0.008	T	0.82991	-0.0182	9	0.24483	T	0.36	.	11.2195	0.48846	0.2025:0.0:0.7975:0.0	.	4070;4070	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	Q	4070;4070;3920;405	ENSP00000298047:R4070Q;ENSP00000387040:R4070Q;ENSP00000432586:R3920Q;ENSP00000436399:R405Q	ENSP00000298047:R4070Q	R	+	2	0	FAT3	92253626	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	2.534000	0.45676	0.452000	0.26830	-0.142000	0.14014	CGG		0.478	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		6	179	0	0	0	0	6	179				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc010sah.1		NA																	0				breast(1)|central_nervous_system(1)|pancreas(1)	3						c.(766-768)ACA>TCA		olfactory receptor, family 8, subfamily D,							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	NP_001002918	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	766	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	256			Helical; Name=6; (Potential).		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	37	81				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc001sro.1		NA																	0					0						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	NP_000697	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	2522	-			183			Helical; Name=4; (Potential).			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	29	50				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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	RP13-941N14.1_ENST00000541574.1_lincRNA|KDM2B_ENST00000536437.1_5'UTR|KDM2B_ENST00000377069.4_5'Flank|KDM2B_ENST00000538046.2_Missense_Mutation_p.P15S	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																																						uc001uat.2		NA																	0				ovary(1)|skin(1)	2						c.(43-45)CCA>TCA		F-box and leucine-rich repeat protein 10 isoform							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_uc001uas.2_5'Flank|KDM2B_uc001uau.2_5'UTR|KDM2B_uc001uav.3_Missense_Mutation_p.P15S	p.P15S	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN			1	147	-			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	32	135				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc001vpi.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						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						p.L712P	NM_003291	NP_003282	P29144	TPP2_HUMAN			17	2238	+	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	12	32				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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)																												uc001wvm.2		NA																	0				ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(1747-1749)GTA>GTT		leucine rich repeat and fibronectin type III							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_uc010ana.2_Intron	p.V583V	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	2947	+			583			Cytoplasmic (Potential).		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	22	48				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc001xmo.2		NA																	0				ovary(1)	1						c.(3733-3735)GAA>AAA		pecanex-like 1							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_uc010are.1_Missense_Mutation_p.E1134K|PCNX_uc010arf.1_Missense_Mutation_p.E105K	p.E1245K	NM_014982	NP_055797	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	35	87				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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*	TICRR_ENST00000560985.1_Nonsense_Mutation_p.R1573*|KIF7_ENST00000558928.1_Intron			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																																						uc002boe.2		NA																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(4720-4722)CGA>TGA		leucine-rich repeat kinase 1							68.0	70.0	69.0					15																	90168261		2200	4299	6499	SO:0001587	stop_gained	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	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*					C15orf42_uc010upv.1_RNA	p.R1574*	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		20	4720	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		1574					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	32	98				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000381039.3_Missense_Mutation_p.Y14C|RBBP6_ENST00000348022.2_Missense_Mutation_p.Y14C|RBBP6_ENST00000452655.2_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																																						uc002dmh.2		NA																	0				ovary(3)|pancreas(1)	4						c.(40-42)TAT>TGT		retinoblastoma-binding protein 6 isoform 1							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_uc010vcb.1_Intron|RBBP6_uc002dmg.2_Missense_Mutation_p.Y14C|RBBP6_uc002dmi.2_Missense_Mutation_p.Y14C|RBBP6_uc010bxr.2_Missense_Mutation_p.Y14C	p.Y14C	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	1	1081	+			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	20	72				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc010dht.2		NA																	0				ovary(3)	3						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_uc002jxm.3_Splice_Site_p.K727_splice|CCDC40_uc002jxn.3_Splice_Site_p.K340_splice	p.K944_splice	NM_017950	NP_060420	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	c.2832_splice	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	10	32				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000539785.1_Splice_Site_p.R404M|PIP5K1C_ENST00000587482.1_5'Flank	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)	uc002lyj.1		NA																	0				stomach(2)|skin(2)	4						c.(1210-1212)AGG>ATG		phosphatidylinositol-4-phosphate 5-kinase, type							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_uc010xhq.1_Missense_Mutation_p.R404M|PIP5K1C_uc010xhr.1_Missense_Mutation_p.R404M	p.R404M	NM_012398	NP_036530	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	1268	-		Hepatocellular(1079;0.137)	404			PIPK.		B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Missense_Mutation	SNP	ENST00000335312.3	37	c.1211G>T	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	5.39e-06	5.97e-06	15	57				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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)																										uc002lzv.3		NA																	0					0						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	NP_060544	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	750	+			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	14	37				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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					uc002mca.3		NA																	0				large_intestine(2)	2						c.(418-420)AAC>AAT		zinc and ring finger 4 precursor							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	NP_859061	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	497	+			140			Extracellular (Potential).|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	22	67				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(43183-43185)TTC>TCC		mucin 16							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_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.F1195S|MUC16_uc010xki.1_RNA	p.F14395S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			81	43388	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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	2	7				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc002poo.3		NA																	0				central_nervous_system(1)|pancreas(1)	2						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	NP_065770	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	2104	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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	14	20				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc002qoi.1		NA																	0				skin(1)|pancreas(1)	2						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	NP_998763	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	29	81				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc002rlr.2		NA																	0				lung(1)|kidney(1)|skin(1)	3						c.(247-249)GAT>AAT		brain and reproductive organ-expressed (TNFRSF1A							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_uc002rlp.1_Missense_Mutation_p.D83N|BRE_uc002rlq.2_Missense_Mutation_p.D83N|BRE_uc002rls.2_Missense_Mutation_p.D83N|BRE_uc002rlt.2_Missense_Mutation_p.D83N|BRE_uc002rlu.2_Missense_Mutation_p.D83N|BRE_uc002rlv.2_5'UTR	p.D83N	NM_199194	NP_954664	Q9NXR7	BRE_HUMAN			5	565	+	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	94	326				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000356214.7_Intron|RAB1A_ENST00000398529.3_Intron|RAB1A_ENST00000260638.8_Intron|RAB1A_ENST00000494188.1_Intron|RAB1A_ENST00000409751.1_Missense_Mutation_p.I56T	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																																						uc002sdm.2		NA																	0					0						c.(262-264)ATA>ACA		RAB1A, member RAS oncogene family isoform 1							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_uc002sdn.2_Intron|RAB1A_uc010yqe.1_Intron|RAB1A_uc002sdo.2_Intron	p.I88T	NM_004161	NP_004152	P62820	RAB1A_HUMAN			4	649	-			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	4	26				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000355812.3_Missense_Mutation_p.R1043G|ZNF638_ENST00000264447.4_Missense_Mutation_p.R1043G|ZNF638_ENST00000409407.1_5'Flank	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																																						uc002shx.2		NA																	0				pancreas(2)|ovary(1)|skin(1)	4						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_uc010yqw.1_Missense_Mutation_p.R622G|ZNF638_uc002shy.2_Missense_Mutation_p.R1043G|ZNF638_uc002shz.2_Missense_Mutation_p.R1043G|ZNF638_uc002sia.2_Missense_Mutation_p.R1043G|ZNF638_uc002sib.1_Missense_Mutation_p.R1043G|ZNF638_uc010fed.2_RNA|ZNF638_uc002sic.2_Missense_Mutation_p.R140G	p.R1043G	NM_014497	NP_055312	Q14966	ZN638_HUMAN			19	3446	+			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	14	40				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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	AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.A83P|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																																						uc002sod.1		NA																	0				skin(1)	1						c.(247-249)GCT>CCT		pancreatitis-associated protein precursor							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					REG3A_uc002soe.1_Missense_Mutation_p.A83P|REG3A_uc002sof.1_Missense_Mutation_p.A83P	p.A83P	NM_138938	NP_620355	Q06141	REG3A_HUMAN			3	502	-			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	12	67				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc002sur.2		NA																	0				ovary(1)	1						c.(436-438)GAG>AAG		fumarylacetoacetate hydrolase domain containing							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_uc002sus.2_Missense_Mutation_p.E146K	p.E146K	NM_016044	NP_057128	Q96GK7	FAH2A_HUMAN			3	615	+			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	18	88				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc002udf.2		NA																	0				ovary(3)|large_intestine(1)|skin(1)	5						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_uc002udg.2_Missense_Mutation_p.R217Q	p.R217Q	NM_024969	NP_079245	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	21	50				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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					uc010zlt.1		NA																	0				ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(3232-3234)GCC>ACC		alpha 4 type IV collagen precursor		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						p.A1078T	NM_000092	NP_000083	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	3886	-		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	12	21				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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)	uc002wei.2		NA																	0				ovary(2)	2						c.(133-135)TAC>GAC		angiopoietin 4 precursor							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_uc010zpn.1_Missense_Mutation_p.Y39D	p.Y45D	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN			1	236	-			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	19	65				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc010zue.1		NA																	0					0						c.(211-213)CCC>CCA		antimicrobial peptide RY2G5 precursor							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	NP_872325	P59827	LPLC4_HUMAN			3	228	+			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	7.05e-23	8.63e-23	39	113				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc002xhy.1		NA																	0				ovary(4)|pancreas(1)	5						c.(3478-3480)CGG>TGG		hypothetical protein LOC85449		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					KIAA1755_uc002xhv.1_Missense_Mutation_p.R224W|KIAA1755_uc002xhw.1_Missense_Mutation_p.R215W|KIAA1755_uc002xhx.1_Missense_Mutation_p.R438W	p.R1160W	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN			14	3750	-		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	17	74				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc002xje.2		NA																	0				upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3						c.(238-240)GAC>GAA		protein phosphatase 1 regulatory inhibitor							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_uc010ggc.2_Missense_Mutation_p.D80E	p.D80E	NM_015568	NP_056383	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	6.72e-11	7.83e-11	12	41				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc002xmt.2		NA																	0				kidney(2)|ovary(1)|breast(1)	4						c.(163-165)GGC>GGT		tyrosine 3-monooxygenase/tryptophan							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_uc002xmu.2_Silent_p.G55G	p.G55G	NM_003404	NP_003395	P31946	1433B_HUMAN			3	447	+		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	23	41				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc002zjo.2		NA																	0				ovary(2)	2						c.(3733-3735)TTC>TTG		disco-interacting protein 2A isoform a							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_uc011afz.1_Missense_Mutation_p.F1241L|DIP2A_uc002zjr.2_Missense_Mutation_p.F212L	p.F1245L	NM_015151	NP_055966	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	3918	+	Breast(49;0.0933)		1245					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.3735C>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	8	18				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000443011.1_Silent_p.T738T|SFI1_ENST00000414585.1_Silent_p.T738T|SFI1_ENST00000443326.1_Silent_p.T809T|SFI1_ENST00000400289.1_Silent_p.T809T|SFI1_ENST00000540643.1_Silent_p.T836T	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																																						uc003ale.2		NA																	0				central_nervous_system(1)	1						c.(2671-2673)ACG>ACT		spindle assembly associated Sfi1 homolog isoform							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_uc003alf.2_Silent_p.T860T|SFI1_uc003alg.2_Silent_p.T809T|SFI1_uc011alp.1_Silent_p.T797T|SFI1_uc011alq.1_Silent_p.T836T|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA|SFI1_uc003ali.2_5'Flank|SFI1_uc003alj.2_5'Flank	p.T891T	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN			26	3066	+			891					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Silent	SNP	ENST00000400288.2	37	c.2673G>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	2.01e-06	2.24e-06	7	23				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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	MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000348968.4_Missense_Mutation_p.I712V|DHX30_ENST00000457607.1_Missense_Mutation_p.I768V|DHX30_ENST00000446256.2_Missense_Mutation_p.I701V	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																																						uc003cru.2		NA																	0				ovary(2)|skin(2)	4						c.(2218-2220)ATC>GTC		DEAH (Asp-Glu-Ala-His) box polypeptide 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_uc003crt.2_Missense_Mutation_p.I701V|MIR1226_hsa-mir-1226|MI0006313_5'Flank	p.I740V	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	14	2644	+			740			Helicase C-terminal.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.2218A>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	23	39				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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	RN7SL751P_ENST00000473281.2_RNA|ROBO1_ENST00000495273.1_Missense_Mutation_p.T47P|ROBO1_ENST00000467549.1_Missense_Mutation_p.T47P|ROBO1_ENST00000436010.2_Missense_Mutation_p.T47P	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																																						uc003dqe.2		NA																	0				large_intestine(2)	2						c.(256-258)ACT>CCT		roundabout 1 isoform a							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_uc003dqb.2_Missense_Mutation_p.T47P|ROBO1_uc003dqc.2_Missense_Mutation_p.T47P|ROBO1_uc003dqd.2_Missense_Mutation_p.T47P	p.T86P	NM_002941	NP_002932	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)	4	464	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	86			Extracellular (Potential).|Ig-like C2-type 1.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.256A>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	21	55				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000466937.1_Nonsense_Mutation_p.C79*|ZPLD1_ENST00000306176.1_Nonsense_Mutation_p.C95*			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																																						uc003dvs.1		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(235-237)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_uc003dvt.1_Nonsense_Mutation_p.C95*|ZPLD1_uc011bhg.1_Nonsense_Mutation_p.C79*	p.C79*	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN			10	1119	+			79			ZP.|Extracellular (Potential).		Q49AS1|Q8WU36	Nonsense_Mutation	SNP	ENST00000491959.1	37	c.237C>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	4.09e-32	5.03e-32	74	36				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608465.1_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																																						uc003efa.1		NA																	0				ovary(3)	3						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	NP_061942	Q86VZ2	WDR5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0704)	1	977	-			157			WD 3.		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	22	81				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc003fqk.3		NA																	2	Substitution - Missense(2)		large_intestine(1)|prostate(1)		0						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_uc003fql.3_Missense_Mutation_p.A286T|AHSG_uc003fqm.3_Missense_Mutation_p.A284T|AHSG_uc010hyp.2_Missense_Mutation_p.A248T	p.A285T	NM_001622	NP_001613	P02765	FETUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)	7	934	+	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	126	83				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000436793.1_Missense_Mutation_p.S172C|WHSC1_ENST00000508803.1_Missense_Mutation_p.S172C|WHSC1_ENST00000382892.2_Missense_Mutation_p.S172C|WHSC1_ENST00000420906.2_Missense_Mutation_p.S172C|WHSC1_ENST00000382891.5_Missense_Mutation_p.S172C|WHSC1_ENST00000514045.1_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																																	uc003gdz.3		NA		Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(514-516)AGC>TGC		Wolf-Hirschhorn syndrome candidate 1 protein							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_uc003geb.3_Missense_Mutation_p.S172C|WHSC1_uc003gec.3_Missense_Mutation_p.S172C|WHSC1_uc003ged.3_Missense_Mutation_p.S172C|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Missense_Mutation_p.S172C|WHSC1_uc003gdy.1_Missense_Mutation_p.S172C|WHSC1_uc010icd.1_Missense_Mutation_p.S172C|WHSC1_uc003gea.1_Missense_Mutation_p.S172C|WHSC1_uc010ice.1_Missense_Mutation_p.S172C|WHSC1_uc003geg.1_Missense_Mutation_p.S172C|WHSC1_uc003geh.1_Missense_Mutation_p.S172C	p.S172C	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	2	690	+		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	12	22				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc003hju.1		NA																	1	Substitution - Missense(1)		endometrium(1)		0						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_uc011cbu.1_Missense_Mutation_p.P191H	p.P334H	NM_005506	NP_005497	Q14108	SCRB2_HUMAN	Lung(101;0.196)		8	1340	-			334			Lumenal (Potential).		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	4.1e-09	4.66e-09	5	107				
SEC31A	22872	broad.mit.edu	37	4	83748771	83748771	+	Silent	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr4:83748771G>A	ENST00000395310.2	-	24	3224	c.3042C>T	c.(3040-3042)ttC>ttT	p.F1014F	SEC31A_ENST00000311785.7_Silent_p.F900F|SEC31A_ENST00000505984.1_Silent_p.F960F|SEC31A_ENST00000432794.1_Silent_p.F1027F|SEC31A_ENST00000513858.1_Silent_p.F861F|SEC31A_ENST00000326950.5_Silent_p.F975F|SEC31A_ENST00000509142.1_Silent_p.F900F|SEC31A_ENST00000355196.2_Silent_p.F1014F|SEC31A_ENST00000500777.2_Silent_p.F861F|SEC31A_ENST00000508502.1_Silent_p.F999F|SEC31A_ENST00000348405.4_Silent_p.F975F|SEC31A_ENST00000264405.5_Silent_p.F763F|SEC31A_ENST00000443462.2_Silent_p.F994F|SEC31A_ENST00000505472.1_Silent_p.F1045F|SEC31A_ENST00000448323.1_Silent_p.F1014F	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1014	Interaction with PDCD6.|Pro-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				CAGGAGGCATGAAGTTTTCAG	0.433																																						uc003hnf.2		NA																SEC31A/JAK2(4)|SEC31A/ALK(3)	0				haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8						c.(3040-3042)TTC>TTT		SEC31 homolog A isoform 1							144.0	143.0	143.0					4																	83748771		2203	4300	6503	SO:0001819	synonymous_variant	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83748771G>A	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.3042C>T	4.37:g.83748771G>A						SEC31A_uc003hnd.2_Silent_p.F183F|SEC31A_uc003hne.2_Silent_p.F763F|SEC31A_uc011ccl.1_Silent_p.F960F|SEC31A_uc003hnl.2_Silent_p.F861F|SEC31A_uc003hng.2_Silent_p.F999F|SEC31A_uc003hnh.2_Silent_p.F1014F|SEC31A_uc003hni.2_Silent_p.F900F|SEC31A_uc003hnj.2_Silent_p.F975F|SEC31A_uc011ccm.1_Silent_p.F994F|SEC31A_uc011ccn.1_Silent_p.F999F|SEC31A_uc003hnk.2_Silent_p.F975F|SEC31A_uc003hnm.2_Silent_p.F1014F	p.F1014F	NM_001077207	NP_001070675	O94979	SC31A_HUMAN			24	3206	-		Hepatocellular(203;0.114)	1014			Interaction with PDCD6.|Pro-rich.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	37	c.3042C>T	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.675|8.675	0.903810|0.903810	0.17760|0.17760	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000511338|ENST00000503937	.|.	.|.	.|.	5.77|5.77	2.77|2.77	0.32553|0.32553	.|.	.|.	.|.	.|.	.|.	T|T	0.58552|0.58552	0.2130|0.2130	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.52873|0.52873	-0.8517|-0.8517	4|4	.|.	.|.	.|.	-11.9728|-11.9728	9.3283|9.3283	0.38005|0.38005	0.2516:0.0:0.7484:0.0|0.2516:0.0:0.7484:0.0	.|.	.|.	.|.	.|.	Y|L	111|177	.|.	.|.	H|S	-|-	1|2	0|0	SEC31A|SEC31A	83967795|83967795	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.870000|0.870000	0.49936|0.49936	4.003000|4.003000	0.57061|0.57061	0.625000|0.625000	0.30304|0.30304	0.655000|0.655000	0.94253|0.94253	CAT|TCA		0.433	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		7	181	0	0	0	0	7	181				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000506454.1_RNA|ADH6_ENST00000504257.1_5'Flank|ADH6_ENST00000407820.2_5'UTR|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_Silent_p.L96L|ADH6_ENST00000394899.2_Silent_p.L96L|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																																						uc003hup.3		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(286-288)CTG>TTG		class V alcohol dehydrogenase isoform 2	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						uc003hum.1_Intron|ADH6_uc003huo.2_Silent_p.L96L|ADH6_uc011cef.1_5'UTR|ADH6_uc010ile.2_Silent_p.L96L	p.L96L	NM_000672	NP_000663	P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	4	380	-			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	28	80				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000510413.1_Missense_Mutation_p.G970V|LRBA_ENST00000535741.1_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																																						uc010ipj.2		NA																	0				ovary(3)|breast(3)|skin(1)	7						c.(2908-2910)GGA>GTA		LPS-responsive vesicle trafficking, beach and							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_uc003ilu.3_Missense_Mutation_p.G970V	p.G970V	NM_006726	NP_006717	P50851	LRBA_HUMAN			23	3383	-	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	7.04e-09	7.94e-09	12	41				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc003iqg.3		NA																	0				lung(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(3019-3021)TTG>GTG		Rap guanine nucleotide exchange factor 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.L1007V	NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	18	3329	+	all_hematologic(180;0.24)		1007					D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.3019T>G	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	11	56				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc003ity.1		NA																	0				ovary(3)	3						c.(838-840)GAT>AAT		glycine receptor, alpha 3 isoform a	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_uc003itz.1_Missense_Mutation_p.D280N	p.D280N	NM_006529	NP_006520	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	1341	-		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	20	38				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc003jkl.3		NA																	0				ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(4351-4353)TTA>TGA		delangin isoform A							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_uc003jkk.3_Nonsense_Mutation_p.L1451*	p.L1451*	NM_133433	NP_597677	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	24	116				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc003jmj.3		NA																	0				ovary(6)|central_nervous_system(2)	8						c.(3565-3567)GTG>GTA		HEAT repeat family member 7B2							88.0	90.0	89.0					5																	41008749		2078	4206	6284	SO:0001819	synonymous_variant	133558						binding	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						HEATR7B2_uc003jmi.3_Silent_p.V744V	p.V1189V	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			33	4057	-			1189			HEAT 13.		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	34	51				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc003kqn.2		NA																	0				skin(2)|central_nervous_system(1)	3						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_uc010jce.1_Nonsense_Mutation_p.Q247*|YTHDC2_uc010jcf.1_5'UTR	p.Q247*	NM_022828	NP_073739	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	922	+		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	4	74				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc003ktk.2		NA																	0				ovary(1)	1						c.(619-621)CCA>CAA		coiled-coil domain containing 100							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_uc011cwq.1_Missense_Mutation_p.P16Q|CEP120_uc010jcz.1_Missense_Mutation_p.P181Q	p.P207Q	NM_153223	NP_694955	Q8N960	CE120_HUMAN			7	702	-			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	3.67e-16	4.4e-16	20	31				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000605315.1_5'UTR|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000419235.2_Silent_p.V96V|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																																						uc003msx.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						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_uc011dhn.1_Silent_p.V96V|DUSP22_uc003msy.1_Silent_p.V53V	p.V96V	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	6	727	+	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	50	280				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc003omu.2		NA																	0				ovary(1)	1						c.(214-216)CGA>CGG		peptidylprolyl isomerase-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							p.R72R	NM_016059	NP_057143	Q9Y3C6	PPIL1_HUMAN			3	468	-			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	12	45				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc003oph.1		NA																	0				ovary(2)|skin(1)	3						c.(1708-1710)GCG>ACG		leucine rich repeat and fibronectin type III							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	NP_065788	Q9ULH4	LRFN2_HUMAN			3	2173	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		570			Cytoplasmic (Potential).		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	7	41				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000354495.3_Silent_p.L2121L|RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Silent_p.L2203L	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																																						uc003ouk.2		NA																	0				ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(6691-6693)CTC>CTT		p53-associated parkin-like cytoplasmic protein							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_uc003oul.2_Silent_p.L2203L|CUL9_uc010jyk.2_Silent_p.L1383L|CUL9_uc003oun.2_Silent_p.L26L	p.L2231L	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			34	6768	+			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	12	39				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc010kab.2		NA																	0					0						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_uc003pdg.2_RNA	p.S55F	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN			3	750	+			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	55	209				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc010kjv.2		NA																	0				large_intestine(4)|ovary(3)|central_nervous_system(1)	8						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_uc010kjw.1_Missense_Mutation_p.D531G	p.D646G	NM_032532	NP_115921	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	9	50				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc003stz.2		NA																	0				ovary(1)	1						c.(310-312)CGG>CTG		phosphoribosyl pyrophosphate synthetase 1-like							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	NP_787082	P21108	PRPS3_HUMAN			1	392	-	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	6.91e-12	8.18e-12	36	110				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000388780.3_Missense_Mutation_p.N522S|LAMB4_ENST00000414450.2_Missense_Mutation_p.N522S|LAMB4_ENST00000205386.4_Missense_Mutation_p.N522S|LAMB4_ENST00000418464.1_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																																						uc010ljo.1		NA																	0				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(1564-1566)AAT>AGT		laminin, beta 4 precursor							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_uc003vey.2_Missense_Mutation_p.N522S	p.N522S	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			14	1649	-			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	18	69				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000474905.1_Missense_Mutation_p.P240L|CPA5_ENST00000461828.1_Missense_Mutation_p.P240L|CPA5_ENST00000466363.2_Missense_Mutation_p.P240L|CPA5_ENST00000431780.2_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																																						uc010lmd.1		NA																	0				ovary(2)	2						c.(718-720)CCT>CTT		carboxypeptidase A5 isoform 1							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_uc003vps.2_Missense_Mutation_p.P240L|CPA5_uc003vpt.2_Missense_Mutation_p.P240L|CPA5_uc010lme.1_Missense_Mutation_p.P240L|CPA5_uc003vpu.1_Missense_Mutation_p.P240L	p.P240L	NM_001127441	NP_001120913	Q8WXQ8	CBPA5_HUMAN			10	1339	+	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	3	41				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc003xqu.3		NA																	0				ovary(1)|pancreas(1)	2						c.(1648-1650)CAG>AAG		peroxidasin homolog-like precursor							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						p.Q550K	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			14	1749	-		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	7.04e-09	7.94e-09	12	43				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc003xqz.2		NA																	0				ovary(4)|skin(1)	5						c.(2533-2535)AAG>AAC		suppression of tumorigenicity 18							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					ST18_uc011ldq.1_Missense_Mutation_p.K492N|ST18_uc011ldr.1_Missense_Mutation_p.K810N|ST18_uc011lds.1_Missense_Mutation_p.K750N|ST18_uc003xra.2_Missense_Mutation_p.K845N	p.K845N	NM_014682	NP_055497	O60284	ST18_HUMAN			17	2691	-		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	14	60				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc003ydz.2		NA																	0				ovary(1)	1						c.(49-51)AAG>AAT		WD repeat domain 21C							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	NP_689631	Q8NA75	DC4L2_HUMAN			1	148	-			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	3.6e-14	4.28e-14	18	52				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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)	uc003ykr.1		NA																	0				lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(1093-1095)GAT>GGT		ubiquitin protein ligase E3 component n-recognin							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_uc003yks.1_Missense_Mutation_p.D365G	p.D365G	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		9	1127	-	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	81	88				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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	FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000329994.2_Silent_p.L133L|SLC52A2_ENST00000530047.1_Silent_p.L133L|SLC52A2_ENST00000526752.1_Intron|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000527078.1_Silent_p.L133L|SLC52A2_ENST00000526891.1_3'UTR|SLC52A2_ENST00000540505.1_Silent_p.L45L|SLC52A2_ENST00000402965.1_Silent_p.L133L|FBXL6_ENST00000455319.2_5'Flank			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																																						uc003zcc.1		NA																	0					0						c.(397-399)CTG>TTG		G protein-coupled receptor 172A precursor							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						FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Silent_p.L133L|GPR172A_uc003zce.1_Silent_p.L133L|GPR172A_uc010mfy.1_Silent_p.L133L|GPR172A_uc003zcf.1_Silent_p.L133L|GPR172A_uc011llc.1_Silent_p.L45L	p.L133L	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		3	554	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		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	65	281				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc003zhw.1		NA																	0				ovary(1)	1						c.(1105-1107)GTC>GCC		GLIS family zinc finger 3 isoform b							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_uc003zhx.1_Missense_Mutation_p.V524A|GLIS3_uc003zic.1_Missense_Mutation_p.V524A|GLIS3_uc003zie.1_Missense_Mutation_p.V524A|GLIS3_uc010mhh.1_Missense_Mutation_p.V399A|GLIS3_uc003zid.1_Missense_Mutation_p.V302A|GLIS3_uc010mhi.1_Missense_Mutation_p.V331A|GLIS3_uc003zif.1_Missense_Mutation_p.V302A|GLIS3_uc003zig.1_Missense_Mutation_p.V368A|GLIS3_uc003zih.1_Missense_Mutation_p.V302A|GLIS3_uc003zhy.1_Missense_Mutation_p.V302A|GLIS3_uc003zhz.1_Missense_Mutation_p.V302A|GLIS3_uc003zib.1_Missense_Mutation_p.V368A|GLIS3_uc010mhg.1_Missense_Mutation_p.V302A	p.V369A	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	3	1300	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	369			C2H2-type 1.		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	11	73				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc003zno.2		NA																	0				ovary(2)	2						c.(148-150)GCA>TCA		adipose differentiation-related protein							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_uc011lna.1_Missense_Mutation_p.A22S|PLIN2_uc011lnb.1_Missense_Mutation_p.A50S	p.A50S	NM_001122	NP_001113	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	1.59e-14	1.9e-14	39	82				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc004fbd.1		NA																	0				pancreas(1)	1						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	NP_005625	P41225	SOX3_HUMAN			1	552	-	Acute lymphoblastic leukemia(192;7.65e-05)		184			HMG box.		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	4	50				
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc001aro.2		NA																	0				skin(1)	1						c.(1660-1662)ATGfs		castor homolog 1, zinc finger isoform a																																				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_uc001arp.1_Frame_Shift_Ins_p.M554fs|CASZ1_uc009vmx.2_Frame_Shift_Ins_p.M578fs	p.M554fs	NM_001079843	NP_001073312	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	1981_1982	-	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			C2H2-type 1.		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	NA	NA	NA	NA	18	11	---	---	---	---
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc001vuz.1		NA																	0				ovary(1)	1						c.(127-129)GTGfs		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					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.V43fs	NM_001005356	NP_001005356	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	NA	NA	NA	NA	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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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																																						uc002jfe.2		NA																	0				ovary(2)|skin(2)	4						c.(1990-1992)GAAfs		regulator of G-protein signaling 9 isoform 1							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_uc002jfd.2_Frame_Shift_Del_p.E661fs|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Frame_Shift_Del_p.E435fs	p.E664fs	NM_003835	NP_003826	O75916	RGS9_HUMAN			19	2101	+			664					A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Frame_Shift_Del	DEL	ENST00000262406.9	37	c.1991delA	CCDS42373.1																																																																																				0.582	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		13	36	NA	NA	NA	NA	13	36	---	---	---	---
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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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	RP11-432B6.3_ENST00000483754.1_Frame_Shift_Del_p.I302fs|TRIM59_ENST00000543469.1_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																																						uc003fdm.2		NA																	0					0						c.(901-906)CTCATTfs		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					IFT80_uc003fda.2_RNA	p.L301fs	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		3	1098_1099	-			301_302					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	NA	NA	NA	NA	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	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	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_ENST00000398774.2_Frame_Shift_Ins_p.P327fs|PLEC_ENST00000357649.2_Frame_Shift_Ins_p.P363fs|PLEC_ENST00000436759.2_Frame_Shift_Ins_p.P386fs|PLEC_ENST00000527096.1_Frame_Shift_Ins_p.P382fs|PLEC_ENST00000354589.3_Frame_Shift_Ins_p.P359fs|PLEC_ENST00000345136.3_Frame_Shift_Ins_p.P359fs|PLEC_ENST00000354958.2_Frame_Shift_Ins_p.P337fs|PLEC_ENST00000356346.3_Frame_Shift_Ins_p.P345fs	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																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(1486-1488)CCTfs		plectin isoform 1																																				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|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_uc003zab.1_Frame_Shift_Ins_p.P359fs|PLEC_uc003zac.1_Frame_Shift_Ins_p.P363fs|PLEC_uc003zad.2_Frame_Shift_Ins_p.P359fs|PLEC_uc003zae.1_Frame_Shift_Ins_p.P327fs|PLEC_uc003zag.1_Frame_Shift_Ins_p.P337fs|PLEC_uc003zah.2_Frame_Shift_Ins_p.P345fs|PLEC_uc003zaj.2_Frame_Shift_Ins_p.P386fs	p.P496fs	NM_201380	NP_958782	Q15149	PLEC_HUMAN			11	1657_1658	-			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	NA	NA	NA	NA	35	73	---	---	---	---
