#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
GPR153	387509	broad.mit.edu	37	1	6314150	6314150	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:6314150G>A	ENST00000377893.2	-	3	673	c.414C>T	c.(412-414)tcC>tcT	p.S138S		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		ACAGGATGAAGGACACCATCC	0.622																																						uc001amp.1		NA																	0					0						c.(412-414)TCC>TCT		G protein-coupled receptor 153							96.0	98.0	97.0					1																	6314150		2203	4300	6503	SO:0001819	synonymous_variant	387509					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:6314150G>A	AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"""GPCR / Class A : Orphans"""	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.414C>T	1.37:g.6314150G>A							p.S138S	NM_207370	NP_997253	Q6NV75	GP153_HUMAN		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)	3	674	-	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	138			Helical; Name=4; (Potential).		Q5TGR5|Q6AHW8|Q86SP8	Silent	SNP	ENST00000377893.2	37	c.414C>T	CCDS64.1																																																																																				0.622	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003717.2			28	56	0	0	0	0	28	56				
ZBTB48	3104	broad.mit.edu	37	1	6646822	6646822	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:6646822C>G	ENST00000377674.4	+	5	1270	c.1112C>G	c.(1111-1113)tCt>tGt	p.S371C		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	371					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		CACATGGTGTCTCACACAGGG	0.632																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)	uc009vmc.1		NA																	0					0						c.(1111-1113)TCT>TGT		zinc finger and BTB domain containing 48							93.0	69.0	77.0					1																	6646822		2203	4300	6503	SO:0001583	missense	3104					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:6646822C>G	BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4930	protein-coding gene	gene with protein product		165270	"""GLI-Kruppel family member HKR3"""	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.1112C>G	1.37:g.6646822C>G	ENSP00000366902:p.Ser371Cys					ZBTB48_uc001anx.2_Missense_Mutation_p.S371C|ZBTB48_uc009vmd.1_Missense_Mutation_p.S371C|ZBTB48_uc001any.1_Missense_Mutation_p.S9C	p.S371C	NM_005341	NP_005332	P10074	ZBT48_HUMAN		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)	5	1235	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	371			C2H2-type 3.		Q5SY19	Missense_Mutation	SNP	ENST00000377674.4	37	c.1112C>G	CCDS84.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287838	0.80803	.	.	ENSG00000204859	ENST00000377674;ENST00000545645	T	0.18960	2.18	5.62	5.62	0.85841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.148877	0.64402	D	0.000006	T	0.32793	0.0841	N	0.21324	0.655	0.49130	D	0.999756	D	0.61697	0.99	P	0.62435	0.902	T	0.04723	-1.0931	10	0.72032	D	0.01	-36.1725	19.0188	0.92905	0.0:1.0:0.0:0.0	.	371	P10074	ZBT48_HUMAN	C	371;9	ENSP00000366902:S371C	ENSP00000366902:S371C	S	+	2	0	ZBTB48	6569409	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	3.972000	0.56838	2.826000	0.97356	0.561000	0.74099	TCT		0.632	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341		5	16	0	0	0	0	5	16				
MFN2	9927	broad.mit.edu	37	1	12062113	12062113	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:12062113G>A	ENST00000235329.5	+	11	1435	c.1113G>A	c.(1111-1113)gcG>gcA	p.A371A	MFN2_ENST00000444836.1_Silent_p.A371A	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	371					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TTGCAGAGGCGGTTCGACTCA	0.587																																						uc001atn.3		NA																	0				ovary(1)	1						c.(1111-1113)GCG>GCA		mitofusin 2							114.0	116.0	116.0					1																	12062113		2203	4300	6503	SO:0001819	synonymous_variant	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12062113G>A	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.1113G>A	1.37:g.12062113G>A						MFN2_uc009vni.2_Silent_p.A371A	p.A371A	NM_014874	NP_055689	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	11	1566	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	371			Cytoplasmic (Potential).		A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Silent	SNP	ENST00000235329.5	37	c.1113G>A	CCDS30587.1																																																																																				0.587	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		39	72	0	0	0	0	39	72				
CLCNKA	1187	broad.mit.edu	37	1	16355704	16355704	+	Silent	SNP	C	C	T	rs374291415		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:16355704C>T	ENST00000331433.4	+	12	1156	c.1137C>T	c.(1135-1137)ccC>ccT	p.P379P	CLCNKA_ENST00000420078.1_Silent_p.P379P|CLCNKA_ENST00000439316.2_Silent_p.P336P|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000375692.1_Silent_p.P379P			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	379					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CACCCTGGCCCGAGGAGCTCG	0.627																																						uc001axu.2		NA																	0				ovary(1)	1						c.(1135-1137)CCC>CCT		chloride channel Ka isoform 1	Niflumic Acid(DB04552)	C	,	0,4406		0,0,2203	71.0	72.0	72.0		1137,1137	-6.4	0.0	1		72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CLCNKA	NM_001042704.1,NM_004070.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	379/687,379/688	16355704	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1187				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16355704C>T		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1137C>T	1.37:g.16355704C>T						CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Silent_p.P379P|CLCNKA_uc010obw.1_Silent_p.P336P|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010obx.1_Silent_p.P26P|CLCNKA_uc010oby.1_Nonsense_Mutation_p.R109*	p.P379P	NM_004070	NP_004061	P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	12	1217	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	379					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Silent	SNP	ENST00000331433.4	37	c.1137C>T	CCDS167.1																																																																																				0.627	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			7	69	0	0	0	0	7	69				
UBR4	23352	broad.mit.edu	37	1	19447699	19447699	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:19447699T>A	ENST00000375254.3	-	68	10152	c.10125A>T	c.(10123-10125)aaA>aaT	p.K3375N	UBR4_ENST00000375217.2_Missense_Mutation_p.K3368N|UBR4_ENST00000375218.3_5'Flank|UBR4_ENST00000375226.2_Missense_Mutation_p.K3351N|UBR4_ENST00000375267.2_Missense_Mutation_p.K3375N	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3375					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTCCTTTTCTTTTTCTTCTT	0.453																																						uc001bbi.2		NA																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(10123-10125)AAA>AAT		retinoblastoma-associated factor 600							67.0	72.0	70.0					1																	19447699		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19447699T>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.10125A>T	1.37:g.19447699T>A	ENSP00000364403:p.Lys3375Asn					UBR4_uc001bbk.1_Missense_Mutation_p.K1022N	p.K3375N	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	68	10129	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3375					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.10125A>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.674343	0.47781	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413	T;T;T;T	0.25579	1.79;1.79;1.8;1.8	5.95	0.471	0.16752	.	0.044965	0.85682	D	0.000000	T	0.19846	0.0477	L	0.47716	1.5	0.80722	D	1	B	0.31318	0.319	B	0.32624	0.149	T	0.05354	-1.0890	10	0.25106	T	0.35	.	9.6093	0.39652	0.0:0.6083:0.0:0.3917	.	3375	Q5T4S7	UBR4_HUMAN	N	3375;3375;3368;3351;983	ENSP00000364403:K3375N;ENSP00000364416:K3375N;ENSP00000364365:K3368N;ENSP00000364374:K3351N	ENSP00000364365:K3368N	K	-	3	2	UBR4	19320286	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	1.123000	0.31308	0.053000	0.16036	-0.408000	0.06270	AAA		0.453	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		32	92	0	0	0	0	32	92				
PQLC2	54896	broad.mit.edu	37	1	19644172	19644172	+	Start_Codon_SNP	SNP	A	A	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:19644172A>G	ENST00000375153.3	+	2	641	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	RN7SL85P_ENST00000583604.1_RNA|PQLC2_ENST00000375155.3_Start_Codon_SNP_p.M1V|PQLC2_ENST00000400548.2_Intron	NM_001040125.1	NP_001035214.1	Q6ZP29	LAAT1_HUMAN	PQ loop repeat containing 2	1					amino acid homeostasis (GO:0080144)|arginine transport (GO:0015809)|lysine transport (GO:0015819)	integral component of organelle membrane (GO:0031301)|lysosomal membrane (GO:0005765)	arginine transmembrane transporter activity (GO:0015181)|basic amino acid transmembrane transporter activity (GO:0015174)|L-lysine transmembrane transporter activity (GO:0015189)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCACAGCCATGGTCTGGAA	0.647																																						uc001bby.2		NA																	0					0						c.(1-3)ATG>GTG		PQ loop repeat containing 2 isoform 1							85.0	87.0	86.0					1																	19644172		2203	4300	6503	SO:0001582	initiator_codon_variant	54896					integral to membrane		g.chr1:19644172A>G	BC015324	CCDS195.2, CCDS30618.1	1p36.13	2013-10-11			ENSG00000040487	ENSG00000040487			26001	protein-coding gene	gene with protein product		614760				23169667	Standard	XM_005245915		Approved	FLJ20320	uc001bby.3	Q6ZP29	OTTHUMG00000002521	ENST00000375153.3:c.1A>G	1.37:g.19644172A>G	ENSP00000364295:p.Met1Val					PQLC2_uc001bbz.2_Intron|PQLC2_uc001bca.2_Missense_Mutation_p.M1V|PQLC2_uc001bcb.2_Intron|PQLC2_uc001bcc.2_5'UTR	p.M1V	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	353	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	1			Extracellular (Potential).		B3KWQ5|Q6ZMJ3|Q6ZP27|Q9NXC7	Missense_Mutation	SNP	ENST00000375153.3	37	c.1A>G	CCDS195.2	.	.	.	.	.	.	.	.	.	.	A	16.32	3.091226	0.55968	.	.	ENSG00000040487	ENST00000375155;ENST00000375153	T;T	0.41400	1.0;1.0	5.39	5.39	0.77823	.	0.288000	0.38058	N	0.001831	T	0.36552	0.0971	.	.	.	0.80722	D	1	B	0.30914	0.3	B	0.29077	0.098	T	0.28996	-1.0026	9	0.66056	D	0.02	-10.2027	12.7759	0.57448	1.0:0.0:0.0:0.0	.	1	Q6ZP29	PQLC2_HUMAN	V	1	ENSP00000364297:M1V;ENSP00000364295:M1V	ENSP00000364295:M1V	M	+	1	0	PQLC2	19516759	0.965000	0.33210	1.000000	0.80357	0.644000	0.38419	1.725000	0.38074	2.054000	0.61138	0.391000	0.25812	ATG		0.647	PQLC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007255.1	NM_017765	Missense_Mutation	41	99	0	0	0	0	41	99				
PINK1	65018	broad.mit.edu	37	1	20971032	20971032	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:20971032C>T	ENST00000321556.4	+	4	920	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	PINK1-AS_ENST00000451424.1_RNA|PINK1_ENST00000492302.1_3'UTR	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	276	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.		R -> Q. {ECO:0000269|PubMed:18330912}.		activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAACATCATCCGGGTTCTCCG	0.592																																					Esophageal Squamous(145;853 1803 8146 34412 35011)	uc001bdm.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(826-828)CGG>TGG		PTEN induced putative kinase 1 precursor							130.0	120.0	123.0					1																	20971032		2203	4300	6503	SO:0001583	missense	65018				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding	g.chr1:20971032C>T	AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"""Parkinson disease"""	14581	protein-coding gene	gene with protein product		608309	"""Parkinson disease (autosomal recessive) 6"""	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.826C>T	1.37:g.20971032C>T	ENSP00000364204:p.Arg276Trp						p.R276W	NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	4	920	+		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	276		R -> Q.	Protein kinase.|Cytoplasmic (Potential).		Q8N6T9|Q8NBU3|Q96DE4	Missense_Mutation	SNP	ENST00000321556.4	37	c.826C>T	CCDS211.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651750	0.88056	.	.	ENSG00000158828	ENST00000321556	T	0.75938	-0.98	5.85	5.85	0.93711	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.169241	0.51477	D	0.000094	D	0.89188	0.6644	M	0.92784	3.345	0.47737	D	0.999502	D	0.89917	1.0	D	0.79108	0.992	D	0.91033	0.4865	10	0.72032	D	0.01	-12.5693	15.6578	0.77155	0.0:1.0:0.0:0.0	.	276	Q9BXM7	PINK1_HUMAN	W	276	ENSP00000364204:R276W	ENSP00000364204:R276W	R	+	1	2	PINK1	20843619	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.841000	0.39240	2.767000	0.95098	0.655000	0.94253	CGG		0.592	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007954.1	NM_032409		8	126	0	0	0	0	8	126				
MACF1	23499	broad.mit.edu	37	1	39920720	39920720	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:39920720C>A	ENST00000372915.3	+	88	20810	c.20723C>A	c.(20722-20724)cCa>cAa	p.P6908Q	MACF1_ENST00000545844.1_Missense_Mutation_p.P4950Q|MACF1_ENST00000289893.4_Missense_Mutation_p.P5452Q|MACF1_ENST00000361689.2_Missense_Mutation_p.P4950Q|MACF1_ENST00000564288.1_Missense_Mutation_p.P7009Q|MACF1_ENST00000317713.7_Missense_Mutation_p.P4950Q|MACF1_ENST00000567887.1_Missense_Mutation_p.P7046Q|MACF1_ENST00000539005.1_Missense_Mutation_p.P4820Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6908					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GATCAGGAGCCAATCCCGCAG	0.527																																						uc010oiu.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(16354-16356)CCA>CAA		microfilament and actin filament cross-linker							132.0	114.0	120.0					1																	39920720		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39920720C>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.20723C>A	1.37:g.39920720C>A	ENSP00000362006:p.Pro6908Gln					MACF1_uc010ois.1_Missense_Mutation_p.P4950Q	p.P5452Q	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		54	16486	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6908					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.16355C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.101157|4.101157	0.76983|0.76983	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000360115	T;T;T;T;T;T|.	0.54866|.	1.24;1.24;1.24;0.55;1.24;1.24|.	5.63|5.63	4.71|4.71	0.59529|0.59529	.|.	0.000000|.	0.64402|.	D|.	0.000011|.	T|T	0.72309|0.72309	0.3444|0.3444	M|M	0.66297|0.66297	2.02|2.02	0.80722|0.80722	D|D	1|1	D;P|.	0.76494|.	0.999;0.746|.	D;P|.	0.75484|.	0.986;0.661|.	T|T	0.72077|0.72077	-0.4399|-0.4399	10|5	0.39692|.	T|.	0.17|.	.|.	15.9245|15.9245	0.79606|0.79606	0.1362:0.8638:0.0:0.0|0.1362:0.8638:0.0:0.0	.|.	6908;4950|.	Q9UPN3;F8W8Q1|.	MACF1_HUMAN;.|.	Q|K	4950;6908;4950;4950;4820;5452|52	ENSP00000439537:P4950Q;ENSP00000362006:P6908Q;ENSP00000354573:P4950Q;ENSP00000313438:P4950Q;ENSP00000444364:P4820Q;ENSP00000289893:P5452Q|.	ENSP00000289893:P5452Q|.	P|Q	+|+	2|1	0|0	MACF1|MACF1	39693307|39693307	0.966000|0.966000	0.33281|0.33281	0.860000|0.860000	0.33809|0.33809	0.992000|0.992000	0.81027|0.81027	4.893000|4.893000	0.63199|0.63199	1.361000|1.361000	0.45981|0.45981	-0.182000|-0.182000	0.12963|0.12963	CCA|CAA		0.527	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		24	35	1	0	7.93e-12	9.19e-12	24	35				
KLF17	128209	broad.mit.edu	37	1	44595384	44595384	+	Silent	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:44595384C>T	ENST00000372299.3	+	2	499	c.441C>T	c.(439-441)ttC>ttT	p.F147F	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	147					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CCAGGCCCTTCGGTGGGAATC	0.562																																						uc001clp.2		NA																	0				ovary(1)|skin(1)	2						c.(439-441)TTC>TTT		zinc finger protein 393							39.0	42.0	41.0					1																	44595384		2203	4300	6503	SO:0001819	synonymous_variant	128209				regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:44595384C>T	BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	18830	protein-coding gene	gene with protein product		609602	"""zinc finger protein 393"""	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.441C>T	1.37:g.44595384C>T						KLF17_uc009vxf.1_Silent_p.F110F	p.F147F	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN			2	499	+	Acute lymphoblastic leukemia(166;0.155)		147					Q86VQ7|Q8N805	Silent	SNP	ENST00000372299.3	37	c.441C>T	CCDS508.1																																																																																				0.562	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484		5	50	0	0	0	0	5	50				
NFIA	4774	broad.mit.edu	37	1	61920976	61920976	+	Splice_Site	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:61920976C>T	ENST00000403491.3	+	11	1998	c.1514C>T	c.(1513-1515)tCc>tTc	p.S505F	NFIA_ENST00000371185.2_Splice_Site_p.S483F|NFIA_ENST00000485903.2_Splice_Site_p.S462F|NFIA_ENST00000371184.2_Splice_Site_p.S376F|NFIA_ENST00000357977.5_Splice_Site_p.S153F|NFIA_ENST00000407417.3_Splice_Site_p.S497F|NFIA_ENST00000371191.1_Splice_Site_p.S528F|NFIA_ENST00000371189.4_Splice_Site_p.S550F|NFIA_ENST00000371187.3_Splice_Site_p.I474I	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	505					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						GTCTTCCAGTCCTGGTACCTG	0.448																																						uc001czw.2		NA																	0				pancreas(1)|skin(1)	2						c.(1513-1515)TCC>TTC		nuclear factor I/A isoform 1							173.0	159.0	164.0					1																	61920976		2203	4300	6503	SO:0001630	splice_region_variant	4774				DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:61920976C>T	U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.1513-1C>T	1.37:g.61920976C>T						NFIA_uc001czy.2_Missense_Mutation_p.S497F|NFIA_uc010oos.1_Missense_Mutation_p.S550F|NFIA_uc001czv.2_Silent_p.I474I|NFIA_uc001czx.2_Missense_Mutation_p.S153F|NFIA_uc009wae.2_RNA	p.S505F	NM_001134673	NP_001128145	Q12857	NFIA_HUMAN			11	1998	+			505					B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	ENST00000403491.3	37	c.1514C>T	CCDS44156.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010510	0.35511	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000371185;ENST00000371184;ENST00000371187	T;T;T;T;T;T;T	0.58940	0.43;0.43;0.43;0.43;0.43;0.43;0.3	5.82	5.82	0.92795	.	0.472937	0.22107	N	0.064538	T	0.65439	0.2691	N	0.19112	0.55	0.41520	D	0.988391	P;P;P;P	0.48694	0.914;0.818;0.818;0.818	D;P;P;P	0.63703	0.917;0.788;0.788;0.788	T	0.68985	-0.5265	10	0.87932	D	0	.	20.1012	0.97876	0.0:1.0:0.0:0.0	.	550;528;483;505	F8W8W3;B1AKN8;B1AKN5;Q12857	.;.;.;NFIA_HUMAN	F	528;497;550;505;483;376;462	ENSP00000360233:S528F;ENSP00000384680:S497F;ENSP00000360231:S550F;ENSP00000384523:S505F;ENSP00000360227:S483F;ENSP00000360226:S376F;ENSP00000360229:S462F	ENSP00000360226:S376F	S	+	2	0	NFIA	61693564	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.359000	0.66074	2.754000	0.94517	0.650000	0.86243	TCC		0.448	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595	Missense_Mutation	4	81	0	0	0	0	4	81				
ERICH3	127254	broad.mit.edu	37	1	75072531	75072531	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:75072531C>A	ENST00000326665.5	-	10	1461	c.1243G>T	c.(1243-1245)Gaa>Taa	p.E415*	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Nonsense_Mutation_p.E218*	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		415	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTGCTCTTTTCTTTCCTAGAT	0.403																																						uc001dgg.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(1243-1245)GAA>TAA		hypothetical protein LOC127254							122.0	118.0	119.0					1																	75072531		2203	4299	6502	SO:0001587	stop_gained	127254							g.chr1:75072531C>A																												ENST00000326665.5:c.1243G>T	1.37:g.75072531C>A	ENSP00000322609:p.Glu415*					uc001dgh.2_Intron|C1orf173_uc001dgi.3_Nonsense_Mutation_p.E209*	p.E415*	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			10	1462	-			415			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Nonsense_Mutation	SNP	ENST00000326665.5	37	c.1243G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	31	5.100579	0.94245	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	.	.	.	4.62	2.71	0.32032	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-4.227	5.7519	0.18152	0.0:0.6172:0.2286:0.1542	.	.	.	.	X	415;218	.	ENSP00000322609:E415X	E	-	1	0	C1orf173	74845119	0.001000	0.12720	0.742000	0.31022	0.202000	0.24057	0.640000	0.24705	1.261000	0.44149	0.650000	0.86243	GAA		0.403	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			6	132	1	0	0.000157383	0.000168318	6	132				
CRABP2	1382	broad.mit.edu	37	1	156670775	156670775	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:156670775T>A	ENST00000368222.3	-	2	294	c.140A>T	c.(139-141)gAg>gTg	p.E47V	CRABP2_ENST00000368221.1_Missense_Mutation_p.E47V	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	47					epidermis development (GO:0008544)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)|Tretinoin(DB00755)	AGTGTCTCCCTCCTGTTTGAT	0.537																																						uc001fpr.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(139-141)GAG>GTG		cellular retinoic acid binding protein 2	Alitretinoin(DB00523)						140.0	119.0	126.0					1																	156670775		2203	4300	6503	SO:0001583	missense	1382				epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity	g.chr1:156670775T>A	BC001109	CCDS1152.1	1q21.3	2013-03-01	2001-11-28		ENSG00000143320	ENSG00000143320		"""Fatty acid binding protein family"""	2339	protein-coding gene	gene with protein product		180231	"""cellular retinoic acid-binding protein 2"""			1654334	Standard	NM_001878		Approved	CRABP-II	uc001fpr.3	P29373	OTTHUMG00000041300	ENST00000368222.3:c.140A>T	1.37:g.156670775T>A	ENSP00000357205:p.Glu47Val						p.E47V	NM_001878	NP_001869	P29373	RABP2_HUMAN			2	277	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		47					B2R4Z8|D3DVC5|F1T098|Q6ICN6	Missense_Mutation	SNP	ENST00000368222.3	37	c.140A>T	CCDS1152.1	.	.	.	.	.	.	.	.	.	.	T	17.91	3.503720	0.64298	.	.	ENSG00000143320	ENST00000368222;ENST00000368221;ENST00000368220	T;T;T	0.09163	3.01;3.01;3.01	4.86	4.86	0.63082	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.288222	0.37393	N	0.002104	T	0.05456	0.0144	L	0.45352	1.415	0.58432	D	0.999998	B	0.11235	0.004	B	0.17433	0.018	T	0.07462	-1.0771	10	0.72032	D	0.01	.	12.462	0.55736	0.0:0.0:0.0:1.0	.	47	P29373	RABP2_HUMAN	V	47	ENSP00000357205:E47V;ENSP00000357204:E47V;ENSP00000357203:E47V	ENSP00000357203:E47V	E	-	2	0	CRABP2	154937399	1.000000	0.71417	0.893000	0.35052	0.993000	0.82548	7.469000	0.80959	2.047000	0.60756	0.533000	0.62120	GAG		0.537	CRABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098966.1	NM_001878		28	37	0	0	0	0	28	37				
COPA	1314	broad.mit.edu	37	1	160312934	160312934	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:160312934G>A	ENST00000241704.7	-	1	256	c.27C>T	c.(25-27)agC>agT	p.S9S	COPA_ENST00000368069.3_Silent_p.S9S|NCSTN_ENST00000368063.1_5'Flank|NCSTN_ENST00000294785.5_5'Flank|NCSTN_ENST00000535857.1_5'Flank|NCSTN_ENST00000392212.4_5'Flank	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	9					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGACCCGCGCGCTCTTGGTCT	0.567																																						uc009wti.2		NA																	0				ovary(1)|skin(1)	2						c.(25-27)AGC>AGT		coatomer protein complex, subunit alpha isoform							184.0	195.0	191.0					1																	160312934		2203	4300	6503	SO:0001819	synonymous_variant	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160312934G>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.27C>T	1.37:g.160312934G>A						COPA_uc001fvv.3_Silent_p.S9S|COPA_uc009wtj.1_5'UTR|NCSTN_uc009wtk.1_5'Flank|NCSTN_uc001fvx.2_5'Flank|NCSTN_uc001fvy.2_5'Flank|NCSTN_uc010pjf.1_5'Flank	p.S9S	NM_004371	NP_004362	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		1	421	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		9			WD 1.		Q5T201|Q8IXZ9	Silent	SNP	ENST00000241704.7	37	c.27C>T	CCDS1202.1																																																																																				0.567	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		12	249	0	0	0	0	12	249				
RC3H1	149041	broad.mit.edu	37	1	173961928	173961928	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:173961928C>A	ENST00000367696.2	-	2	547	c.196G>T	c.(196-198)Gtg>Ttg	p.V66L	RC3H1_ENST00000258349.4_Missense_Mutation_p.V66L|RC3H1_ENST00000367694.2_Missense_Mutation_p.V66L			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	66					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GCTGAGTTCACAGGGAGGAGC	0.483																																						uc001gju.3		NA																	0				ovary(2)	2						c.(196-198)GTG>TTG		roquin							118.0	101.0	107.0					1																	173961928		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173961928C>A	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.196G>T	1.37:g.173961928C>A	ENSP00000356669:p.Val66Leu					RC3H1_uc010pms.1_Missense_Mutation_p.V66L|RC3H1_uc001gjv.2_Missense_Mutation_p.V66L|RC3H1_uc010pmt.1_Missense_Mutation_p.V66L	p.V66L	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN			1	283	-			66					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.196G>T	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116174	0.77323	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	D;D;D	0.94376	-3.41;-3.41;-3.41	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.94725	0.8298	M	0.67953	2.075	0.80722	D	1	P;P;P;B	0.52170	0.9;0.951;0.94;0.11	B;P;P;B	0.50440	0.438;0.622;0.641;0.083	D	0.94568	0.7768	10	0.56958	D	0.05	-13.1335	19.7923	0.96464	0.0:1.0:0.0:0.0	.	66;66;66;66	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	L	66	ENSP00000356669:V66L;ENSP00000258349:V66L;ENSP00000356667:V66L	ENSP00000258349:V66L	V	-	1	0	RC3H1	172228551	1.000000	0.71417	0.964000	0.40570	0.954000	0.61252	7.391000	0.79828	2.693000	0.91896	0.655000	0.94253	GTG		0.483	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		26	31	1	0	7.01e-11	8.08e-11	26	31				
CEP350	9857	broad.mit.edu	37	1	180010837	180010837	+	Missense_Mutation	SNP	G	G	A	rs138458512		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:180010837G>A	ENST00000367607.3	+	19	4680	c.4262G>A	c.(4261-4263)cGg>cAg	p.R1421Q		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1421					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAATCACAACGGGAAGTAACT	0.438																																						uc001gnt.2		NA																	0				ovary(4)	4						c.(4261-4263)CGG>CAG		centrosome-associated protein 350		G	GLN/ARG	0,4406		0,0,2203	59.0	52.0	55.0		4262	2.5	0.5	1	dbSNP_134	55	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CEP350	NM_014810.4	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	1421/3118	180010837	2,13004	2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180010837G>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.4262G>A	1.37:g.180010837G>A	ENSP00000356579:p.Arg1421Gln					CEP350_uc009wxl.2_Missense_Mutation_p.R1420Q	p.R1421Q	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			19	4645	+			1421					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.4262G>A	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711480	0.30322	0.0	2.33E-4	ENSG00000135837	ENST00000367607	T	0.54279	0.58	5.73	2.45	0.29901	.	0.391609	0.18487	N	0.139759	T	0.27098	0.0664	N	0.05124	-0.11	0.25653	N	0.98607	B;B	0.21452	0.056;0.032	B;B	0.10450	0.005;0.002	T	0.16482	-1.0401	9	.	.	.	.	9.8649	0.41136	0.34:0.0:0.66:0.0	.	1421;1421	E7EU22;Q5VT06	.;CE350_HUMAN	Q	1421	ENSP00000356579:R1421Q	.	R	+	2	0	CEP350	178277460	0.998000	0.40836	0.530000	0.27963	0.705000	0.40729	2.385000	0.44371	0.354000	0.24105	-1.094000	0.02160	CGG		0.438	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		8	19	0	0	0	0	8	19				
CACNA1S	779	broad.mit.edu	37	1	201022675	201022675	+	Missense_Mutation	SNP	C	C	T	rs540779685		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr1:201022675C>T	ENST00000362061.3	-	30	3933	c.3707G>A	c.(3706-3708)cGc>cAc	p.R1236H	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R1217H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1236					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACGGAACAGGCGGAAGAAGGC	0.622																																						uc001gvv.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3706-3708)CGC>CAC		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						60.0	60.0	60.0					1																	201022675		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201022675C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3707G>A	1.37:g.201022675C>T	ENSP00000355192:p.Arg1236His						p.R1236H	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			30	3934	-			1236			IV.|Helical; Name=S4 of repeat IV; (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.3707G>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	32	5.105602	0.94292	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98617	-5.03;-5.03	4.05	4.05	0.47172	Ion transport (1);	0.120578	0.56097	D	0.000029	D	0.99638	0.9867	H	0.99942	5.005	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.96794	0.9584	10	0.87932	D	0	.	16.8345	0.85953	0.0:1.0:0.0:0.0	.	1236	Q13698	CAC1S_HUMAN	H	1236;1217	ENSP00000355192:R1236H;ENSP00000356307:R1217H	ENSP00000355192:R1236H	R	-	2	0	CACNA1S	199289298	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.875000	0.69660	2.265000	0.75225	0.586000	0.80456	CGC		0.622	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		4	73	0	0	0	0	4	73				
UPF2	26019	broad.mit.edu	37	10	11994186	11994186	+	Silent	SNP	A	A	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:11994186A>G	ENST00000356352.2	-	14	3386	c.2913T>C	c.(2911-2913)gaT>gaC	p.D971D	UPF2_ENST00000397053.2_Silent_p.D971D|UPF2_ENST00000357604.5_Silent_p.D971D			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	971	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TGTAATCTATATCAATAGGAA	0.348																																						uc001ila.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(2911-2913)GAT>GAC		UPF2 regulator of nonsense transcripts homolog							132.0	131.0	131.0					10																	11994186		2203	4300	6503	SO:0001819	synonymous_variant	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:11994186A>G	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2913T>C	10.37:g.11994186A>G						UPF2_uc001ilb.2_Silent_p.D971D|UPF2_uc001ilc.2_Silent_p.D971D|UPF2_uc009xiz.1_Silent_p.D971D	p.D971D	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN			14	3387	-		Renal(717;0.228)	971			MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Silent	SNP	ENST00000356352.2	37	c.2913T>C	CCDS7086.1																																																																																				0.348	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			38	55	0	0	0	0	38	55				
CDC123	8872	broad.mit.edu	37	10	12238301	12238301	+	Silent	SNP	A	A	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:12238301A>T	ENST00000281141.4	+	1	337	c.57A>T	c.(55-57)cgA>cgT	p.R19R	CDC123_ENST00000455773.3_3'UTR|NUDT5_ENST00000378937.3_5'Flank|NUDT5_ENST00000378952.3_5'Flank|NUDT5_ENST00000491614.1_5'Flank|NUDT5_ENST00000378940.3_5'Flank|CDC123_ENST00000378900.2_Silent_p.R19R|NUDT5_ENST00000537776.1_5'Flank|NUDT5_ENST00000378927.3_5'Flank	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	19					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						CGTTCTTCCGAGGCGTTACCA	0.572																																						uc001ill.2		NA																	0				central_nervous_system(1)	1						c.(55-57)CGA>CGT		cell division cycle 123							108.0	92.0	97.0					10																	12238301		2203	4300	6503	SO:0001819	synonymous_variant	8872				cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm		g.chr10:12238301A>T	BC001600	CCDS7090.1	10p13	2013-01-17	2013-01-17	2006-11-06	ENSG00000151465	ENSG00000151465			16827	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 7"", ""cell division cycle 123 homolog (S. cerevisiae)"""	C10orf7		15319434	Standard	NM_006023		Approved	D123	uc001ill.3	O75794	OTTHUMG00000017680	ENST00000281141.4:c.57A>T	10.37:g.12238301A>T						NUDT5_uc001ilj.2_5'Flank|NUDT5_uc001ilk.2_5'Flank|CDC123_uc009xja.2_Silent_p.R19R|CDC123_uc001ilm.2_Silent_p.R19R	p.R19R	NM_006023	NP_006014	O75794	CD123_HUMAN			1	341	+			19					A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9	Silent	SNP	ENST00000281141.4	37	c.57A>T	CCDS7090.1																																																																																				0.572	CDC123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046801.1	NM_006023		22	48	0	0	0	0	22	48				
SPAG6	9576	broad.mit.edu	37	10	22699991	22699991	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:22699991T>A	ENST00000376624.3	+	10	1488	c.1346T>A	c.(1345-1347)cTt>cAt	p.L449H	RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376601.1_Missense_Mutation_p.L210H|SPAG6_ENST00000313311.6_Intron|SPAG6_ENST00000376603.2_Missense_Mutation_p.L525H|SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000538630.1_Missense_Mutation_p.L424H	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	449					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						GCTCGACGACTTTTTGTAACA	0.378																																						uc001iri.2		NA																	0				breast(1)	1						c.(1345-1347)CTT>CAT		sperm associated antigen 6 isoform 1							74.0	73.0	73.0					10																	22699991		2203	4300	6503	SO:0001583	missense	9576				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	g.chr10:22699991T>A	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.1346T>A	10.37:g.22699991T>A	ENSP00000365811:p.Leu449His					SPAG6_uc001irj.2_Intron|SPAG6_uc010qct.1_Missense_Mutation_p.L419H|SPAG6_uc009xkh.2_Missense_Mutation_p.L427H	p.L449H	NM_012443	NP_036575	O75602	SPAG6_HUMAN			10	1488	+			449					A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	37	c.1346T>A	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	T	13.83	2.354125	0.41700	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000376601;ENST00000538630	T;T;T;T	0.67698	-0.28;-0.28;0.61;-0.28	5.97	5.97	0.96955	Armadillo-like helical (1);Armadillo-type fold (1);	0.238833	0.43579	D	0.000553	T	0.65842	0.2730	M	0.72118	2.19	0.58432	D	0.999999	B;B;B	0.23540	0.012;0.087;0.007	B;B;B	0.23852	0.009;0.049;0.009	T	0.62229	-0.6898	10	0.15066	T	0.55	-13.8961	16.4383	0.83889	0.0:0.0:0.0:1.0	.	424;525;449	B4DXZ4;O75602-3;O75602	.;.;SPAG6_HUMAN	H	449;525;210;424	ENSP00000365811:L449H;ENSP00000365788:L525H;ENSP00000365786:L210H;ENSP00000441325:L424H	ENSP00000365786:L210H	L	+	2	0	SPAG6	22739997	1.000000	0.71417	0.832000	0.32986	0.480000	0.33159	7.967000	0.87967	2.287000	0.76781	0.482000	0.46254	CTT		0.378	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			25	32	0	0	0	0	25	32				
WAC	51322	broad.mit.edu	37	10	28872436	28872436	+	Splice_Site	SNP	T	T	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:28872436T>G	ENST00000354911.4	+	4	542		c.e4+2		WAC_ENST00000375646.1_Splice_Site|WAC_ENST00000347934.4_Splice_Site|WAC_ENST00000428935.1_Splice_Site|WAC_ENST00000375664.4_Splice_Site	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TCAGATGCAGTAAGTATTATA	0.313																																						uc001iuf.2		NA																	0				large_intestine(1)|ovary(1)	2						c.e4+2		WW domain-containing adapter with a coiled-coil							111.0	114.0	113.0					10																	28872436		2203	4299	6502	SO:0001630	splice_region_variant	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28872436T>G	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.381+2T>G	10.37:g.28872436T>G						WAC_uc001iud.2_Splice_Site_p.A82_splice|WAC_uc001iue.2_Intron|WAC_uc009xlb.2_Splice_Site_p.A82_splice|WAC_uc001iug.2_Splice_Site_p.A127_splice|WAC_uc001iuh.2_Splice_Site_p.A82_splice	p.A127_splice	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN			4	466	+								A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Splice_Site	SNP	ENST00000354911.4	37	c.381_splice	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.371242	0.82573	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935;ENST00000420266;ENST00000424454;ENST00000538000;ENST00000442148;ENST00000414108	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0817	0.81010	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	WAC	28912442	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.698000	0.84413	2.206000	0.71126	0.383000	0.25322	.		0.313	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264	Intron	49	84	0	0	0	0	49	84				
IPMK	253430	broad.mit.edu	37	10	60027245	60027245	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:60027245G>C	ENST00000373935.3	-	1	449	c.127C>G	c.(127-129)Ctc>Gtc	p.L43V	CISD1_ENST00000333926.5_5'Flank	NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	43					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						CAGCCGTTGAGGAAGCGGAGT	0.701																																						uc001jkb.2		NA																	0				ovary(1)	1						c.(127-129)CTC>GTC		inositol polyphosphate multikinase							26.0	26.0	26.0					10																	60027245		2189	4276	6465	SO:0001583	missense	253430					nucleus	ATP binding|inositol trisphosphate 6-kinase activity	g.chr10:60027245G>C	AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.127C>G	10.37:g.60027245G>C	ENSP00000363046:p.Leu43Val					CISD1_uc001jkc.3_5'Flank	p.L43V	NM_152230	NP_689416	Q8NFU5	IPMK_HUMAN			1	450	-			43						Missense_Mutation	SNP	ENST00000373935.3	37	c.127C>G	CCDS7250.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482992	0.44147	.	.	ENSG00000151151	ENST00000373935	T	0.20069	2.1	3.63	2.72	0.32119	.	0.000000	0.64402	D	0.000001	T	0.19846	0.0477	M	0.65975	2.015	0.32435	N	0.547473	P	0.39480	0.675	B	0.37047	0.24	T	0.20009	-1.0288	9	.	.	.	-5.618	7.1129	0.25401	0.1271:0.0:0.8729:0.0	.	43	Q8NFU5	IPMK_HUMAN	V	43	ENSP00000363046:L43V	.	L	-	1	0	IPMK	59697251	1.000000	0.71417	0.925000	0.36789	0.808000	0.45660	4.937000	0.63513	0.855000	0.35359	0.305000	0.20034	CTC		0.701	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230		12	17	0	0	0	0	12	17				
TSPAN14	81619	broad.mit.edu	37	10	82269158	82269158	+	Silent	SNP	C	C	T	rs145582053		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:82269158C>T	ENST00000429989.3	+	5	604	c.381C>T	c.(379-381)ttC>ttT	p.F127F	TSPAN14_ENST00000372158.1_Silent_p.F127F|TSPAN14_ENST00000341863.6_Intron|TSPAN14_ENST00000372156.1_Silent_p.F127F|TSPAN14_ENST00000372164.3_Silent_p.F110F|TSPAN14_ENST00000481124.1_Intron	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	127					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			GGGAGTTCTTCGAGAGCAACA	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		19378	0.0		0.001	False		,,,				2504	0.0					uc001kcj.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(379-381)TTC>TTT		tetraspanin 14 isoform 1		C	,	3,4403	6.2+/-15.9	0,3,2200	109.0	93.0	99.0		,381	-2.1	1.0	10	dbSNP_134	99	7,8593	5.7+/-21.5	0,7,4293	no	intron,coding-synonymous	TSPAN14	NM_001128309.1,NM_030927.2	,	0,10,6493	TT,TC,CC		0.0814,0.0681,0.0769	,	,127/271	82269158	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	81619					integral to membrane		g.chr10:82269158C>T	AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"""Tetraspanins"""	23303	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 14"""	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.381C>T	10.37:g.82269158C>T						TSPAN14_uc009xss.2_Intron|TSPAN14_uc001kci.3_Silent_p.F110F	p.F127F	NM_030927	NP_112189	Q8NG11	TSN14_HUMAN	Colorectal(32;0.229)		5	488	+			127					A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Silent	SNP	ENST00000429989.3	37	c.381C>T	CCDS7369.1																																																																																				0.582	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049081.2	NM_030927		6	51	0	0	0	0	6	51				
CCSER2	54462	broad.mit.edu	37	10	86237392	86237392	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:86237392A>G	ENST00000224756.8	+	9	2482	c.2297A>G	c.(2296-2298)tAt>tGt	p.Y766C	CCSER2_ENST00000494144.1_3'UTR|CCSER2_ENST00000543283.1_Missense_Mutation_p.Y193C|CCSER2_ENST00000372088.2_Missense_Mutation_p.Y766C	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	766					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											GCTGATAAATATACCCAAACA	0.338																																						uc001kdh.1		NA																	0				ovary(3)|skin(1)	4						c.(2296-2298)TAT>TGT		granule cell antiserum positive 14							103.0	98.0	100.0					10																	86237392		2203	4300	6503	SO:0001583	missense	54462							g.chr10:86237392A>G		CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.2297A>G	10.37:g.86237392A>G	ENSP00000224756:p.Tyr766Cys					FAM190B_uc010qmd.1_Missense_Mutation_p.Y766C|FAM190B_uc001kdi.1_Translation_Start_Site|FAM190B_uc010qme.1_Missense_Mutation_p.Y193C	p.Y766C	NM_018999	NP_061872	Q9H7U1	F190B_HUMAN			9	2491	+			766					B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	c.2297A>G	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.298163	0.60195	.	.	ENSG00000107771	ENST00000224756;ENST00000372088;ENST00000543283	T;T;T	0.23552	2.21;2.2;1.9	5.75	4.6	0.57074	.	0.367312	0.26122	N	0.026211	T	0.38665	0.1049	L	0.44542	1.39	0.37740	D	0.925593	D;D	0.71674	0.998;0.997	D;P	0.63877	0.919;0.875	T	0.36625	-0.9740	10	0.66056	D	0.02	-16.4156	10.871	0.46883	0.8592:0.0:0.0:0.1408	.	766;766	Q9H7U1-3;Q9H7U1	.;F190B_HUMAN	C	766;766;193	ENSP00000224756:Y766C;ENSP00000361160:Y766C;ENSP00000439944:Y193C	ENSP00000224756:Y766C	Y	+	2	0	FAM190B	86227372	0.932000	0.31603	0.998000	0.56505	0.997000	0.91878	1.762000	0.38451	1.077000	0.40990	0.467000	0.42956	TAT		0.338	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		8	22	0	0	0	0	8	22				
HTR7	3363	broad.mit.edu	37	10	92508650	92508650	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:92508650C>A	ENST00000336152.3	-	2	1267	c.1241G>T	c.(1240-1242)gGc>gTc	p.G414V	HTR7_ENST00000371719.2_Missense_Mutation_p.G414V|HTR7_ENST00000277874.6_Missense_Mutation_p.G414V|HTR7_ENST00000371721.3_Missense_Mutation_p.G414V	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	414					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TTCATGCATGCCTGCAGCTGA	0.498																																						uc001kha.2		NA																	0				ovary(1)	1						c.(1240-1242)GGC>GTC		5-hydroxytryptamine receptor 7 isoform d	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						112.0	119.0	116.0					10																	92508650		2203	4300	6503	SO:0001583	missense	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92508650C>A	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.1241G>T	10.37:g.92508650C>A	ENSP00000337949:p.Gly414Val					HTR7_uc001kgz.2_Missense_Mutation_p.G414V|HTR7_uc001khb.2_Missense_Mutation_p.G414V	p.G414V	NM_019859	NP_062873	P34969	5HT7R_HUMAN			2	1484	-			414			Cytoplasmic (By similarity).		B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	c.1241G>T	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023717	0.75390	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.67171	-0.23;-0.19;-0.14;-0.25	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.73125	0.3547	L	0.34521	1.04	0.80722	D	1	D;D	0.71674	0.998;0.997	P;D	0.65987	0.873;0.94	T	0.67356	-0.5691	10	0.22109	T	0.4	.	19.7046	0.96068	0.0:1.0:0.0:0.0	.	414;414	P34969;P34969-2	5HT7R_HUMAN;.	V	414	ENSP00000337949:G414V;ENSP00000277874:G414V;ENSP00000360784:G414V;ENSP00000360786:G414V	ENSP00000277874:G414V	G	-	2	0	HTR7	92498630	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	7.487000	0.81328	2.664000	0.90586	0.650000	0.86243	GGC		0.498	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		7	145	1	0	8.13e-05	8.74e-05	7	145				
RRP12	23223	broad.mit.edu	37	10	99123620	99123620	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:99123620G>A	ENST00000370992.4	-	30	3669	c.3558C>T	c.(3556-3558)atC>atT	p.I1186I	RRP12_ENST00000315563.6_Silent_p.I1086I|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000536831.1_Silent_p.I904I|RRP12_ENST00000414986.1_Silent_p.I1125I	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1186						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CATTCCTGATGATCACATCTT	0.542																																						uc001knf.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(3556-3558)ATC>ATT		ribosomal RNA processing 12 homolog isoform 1							225.0	190.0	202.0					10																	99123620		2203	4300	6503	SO:0001819	synonymous_variant	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99123620G>A		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3558C>T	10.37:g.99123620G>A						RRP12_uc001kne.2_Silent_p.I201I|RRP12_uc009xvl.2_Silent_p.I303I|RRP12_uc009xvm.2_Silent_p.I904I|RRP12_uc010qou.1_Silent_p.I1125I|RRP12_uc009xvn.2_Silent_p.I1086I	p.I1186I	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	30	3697	-		Colorectal(252;0.162)	1186					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	ENST00000370992.4	37	c.3558C>T	CCDS7457.1																																																																																				0.542	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		5	120	0	0	0	0	5	120				
HPSE2	60495	broad.mit.edu	37	10	100503694	100503694	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:100503694G>A	ENST00000370552.3	-	4	789	c.730C>T	c.(730-732)Ctg>Ttg	p.L244L	HPSE2_ENST00000370546.1_Silent_p.L244L|HPSE2_ENST00000404542.1_Intron|HPSE2_ENST00000370549.1_Intron	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	244					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TACTTCAACAGACTCAGGGCA	0.418																																						uc001kpn.1		NA																	0				ovary(1)	1						c.(730-732)CTG>TTG		heparanase 2							135.0	129.0	131.0					10																	100503694		2203	4300	6503	SO:0001819	synonymous_variant	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100503694G>A	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.730C>T	10.37:g.100503694G>A						HPSE2_uc009xwc.1_Silent_p.L234L|HPSE2_uc001kpo.1_Intron|HPSE2_uc009xwd.1_Intron	p.L244L	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	4	790	-			244					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Silent	SNP	ENST00000370552.3	37	c.730C>T	CCDS7477.1																																																																																				0.418	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		19	42	0	0	0	0	19	42				
FANK1	92565	broad.mit.edu	37	10	127677183	127677183	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr10:127677183G>A	ENST00000368693.1	+	3	359	c.255G>A	c.(253-255)ctG>ctA	p.L85L	FANK1_ENST00000449042.2_Silent_p.L79L|FANK1_ENST00000368695.1_Silent_p.L79L|FANK1_ENST00000368689.1_Silent_p.L79L			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	85	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GATTTCGCCTGAAGGTCACCA	0.517																																						uc001ljh.3		NA																	0				ovary(1)	1						c.(253-255)CTG>CTA		fibronectin type III and ankyrin repeat domains							225.0	201.0	209.0					10																	127677183		2203	4300	6503	SO:0001819	synonymous_variant	92565					cytoplasm|nucleus		g.chr10:127677183G>A	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.255G>A	10.37:g.127677183G>A						FANK1_uc010quk.1_Silent_p.L79L|FANK1_uc009yan.2_Silent_p.L85L|FANK1_uc001lji.2_Silent_p.L79L	p.L85L	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN			3	359	+		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)	85			Fibronectin type-III.		Q6UXY9|Q6X7T6	Silent	SNP	ENST00000368693.1	37	c.255G>A	CCDS31309.1																																																																																				0.517	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235		8	184	0	0	0	0	8	184				
DEAF1	10522	broad.mit.edu	37	11	688405	688405	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr11:688405A>C	ENST00000382409.3	-	3	927	c.443T>G	c.(442-444)cTg>cGg	p.L148R	DEAF1_ENST00000338675.6_Missense_Mutation_p.L148R	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	148					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GACGACAATCAGTGTCGCTTT	0.617																																						uc001lqq.1		NA																	0					0						c.(442-444)CTG>CGG		deformed epidermal autoregulatory factor 1							98.0	75.0	83.0					11																	688405		2203	4300	6503	SO:0001583	missense	10522				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	g.chr11:688405A>C	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.443T>G	11.37:g.688405A>C	ENSP00000371846:p.Leu148Arg					DEAF1_uc009ycf.1_5'Flank	p.L148R	NM_021008	NP_066288	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	3	1136	-		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	148					A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000382409.3	37	c.443T>G	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.159314	0.78226	.	.	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	T	0.69806	-0.43	3.99	3.99	0.46301	.	0.000000	0.64402	D	0.000018	T	0.71341	0.3328	L	0.29908	0.895	0.58432	D	0.999999	D	0.76494	0.999	D	0.87578	0.998	T	0.74870	-0.3517	10	0.87932	D	0	-17.2031	12.3371	0.55073	1.0:0.0:0.0:0.0	.	148	O75398	DEAF1_HUMAN	R	148;148;134;71	ENSP00000371846:L148R	ENSP00000341902:L148R	L	-	2	0	DEAF1	678405	1.000000	0.71417	0.994000	0.49952	0.884000	0.51177	8.909000	0.92647	1.811000	0.52892	0.459000	0.35465	CTG		0.617	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		3	50	0	0	0	0	3	50				
MUC6	4588	broad.mit.edu	37	11	1017190	1017190	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr11:1017190A>G	ENST00000421673.2	-	31	5661	c.5611T>C	c.(5611-5613)Tca>Cca	p.S1871P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1871	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTTGGCATTGAGTGGATGGAG	0.577																																						uc001lsw.2		NA																	0				ovary(1)	1						c.(5611-5613)TCA>CCA		mucin 6, gastric							463.0	441.0	448.0					11																	1017190		2200	4286	6486	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1017190A>G	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5611T>C	11.37:g.1017190A>G	ENSP00000406861:p.Ser1871Pro						p.S1871P	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	5662	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1871			Thr-rich.|2.|Approximate repeats.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.5611T>C	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.859268	0.32884	.	.	ENSG00000184956	ENST00000421673	T	0.23348	1.91	3.05	-6.11	0.02131	.	.	.	.	.	T	0.34193	0.0889	L	0.55990	1.75	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.28396	-1.0045	9	0.59425	D	0.04	.	2.4826	0.04591	0.1454:0.1074:0.14:0.6072	.	1871	Q6W4X9	MUC6_HUMAN	P	1871	ENSP00000406861:S1871P	ENSP00000406861:S1871P	S	-	1	0	MUC6	1007190	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-2.228000	0.01209	-2.484000	0.00521	0.260000	0.18958	TCA		0.577	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		20	508	0	0	0	0	20	508				
MUC5B	727897	broad.mit.edu	37	11	1261590	1261590	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr11:1261590C>T	ENST00000529681.1	+	30	4013	c.3955C>T	c.(3955-3957)Ccc>Tcc	p.P1319S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.P1322S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1319					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGCCTGGGTCCCCCACTCCAC	0.617																																						uc009ycr.1		NA																	0					0						c.(6034-6036)CCC>TCC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							86.0	95.0	92.0					11																	1261590		2080	4205	6285	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1261590C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.3955C>T	11.37:g.1261590C>T	ENSP00000436812:p.Pro1319Ser					MUC5B_uc001ltb.2_Missense_Mutation_p.P1322S|MUC5B_uc001lta.2_Missense_Mutation_p.P987S	p.P2012S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	46	6160	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1319					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.6034C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	8.977	0.974413	0.18736	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16897	2.31;2.5	4.5	1.12	0.20585	.	.	.	.	.	T	0.16428	0.0395	M	0.71581	2.175	0.09310	N	1	P;P	0.38078	0.617;0.617	B;B	0.34180	0.177;0.146	T	0.24512	-1.0158	9	0.87932	D	0	.	3.9273	0.09269	0.1428:0.3702:0.3918:0.0951	.	2012;1322	A7Y9J9;E9PBJ0	.;.	S	1319;1322;1320;1389	ENSP00000436812:P1319S;ENSP00000415793:P1322S	ENSP00000343037:P1320S	P	+	1	0	MUC5B	1218166	0.000000	0.05858	0.007000	0.13788	0.002000	0.02628	-0.216000	0.09266	0.843000	0.35070	0.462000	0.41574	CCC		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		22	37	0	0	0	0	22	37				
NLRP14	338323	broad.mit.edu	37	11	7081273	7081273	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr11:7081273A>T	ENST00000299481.4	+	9	3128	c.2782A>T	c.(2782-2784)Agc>Tgc	p.S928C		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	928					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TCGGCATCCAAGCTGTAATCT	0.433																																						uc001mfb.1		NA																	0				ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(2782-2784)AGC>TGC		NLR family, pyrin domain containing 14							211.0	201.0	204.0					11																	7081273		2201	4295	6496	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7081273A>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2782A>T	11.37:g.7081273A>T	ENSP00000299481:p.Ser928Cys						p.S928C	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	9	3105	+			928					Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.2782A>T	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.259938	0.59321	.	.	ENSG00000158077	ENST00000299481	T	0.50548	0.74	4.5	-2.61	0.06171	.	0.918499	0.09151	N	0.841548	T	0.39009	0.1062	L	0.43646	1.37	0.09310	N	0.999999	D	0.61080	0.989	P	0.49361	0.608	T	0.26121	-1.0112	10	0.51188	T	0.08	.	1.1697	0.01823	0.4943:0.1464:0.2168:0.1425	.	928	Q86W24	NAL14_HUMAN	C	928	ENSP00000299481:S928C	ENSP00000299481:S928C	S	+	1	0	NLRP14	7037849	0.000000	0.05858	0.007000	0.13788	0.997000	0.91878	-0.195000	0.09546	-0.585000	0.05905	0.533000	0.62120	AGC		0.433	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		60	115	0	0	0	0	60	115				
EIF4G2	1982	broad.mit.edu	37	11	10825924	10825924	+	Silent	SNP	C	C	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr11:10825924C>A	ENST00000526148.1	-	6	903	c.393G>T	c.(391-393)ctG>ctT	p.L131L	EIF4G2_ENST00000525995.1_5'Flank|EIF4G2_ENST00000339995.5_Silent_p.L131L|EIF4G2_ENST00000525681.1_Silent_p.L131L|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Silent_p.L131L|SNORD97_ENST00000459187.1_RNA	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GCTGAGCATACAGTGAGCTAT	0.443																																						uc001mjc.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(391-393)CTG>CTT		eukaryotic translation initiation factor 4							118.0	109.0	112.0					11																	10825924		2201	4294	6495	SO:0001819	synonymous_variant	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10825924C>A	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.393G>T	11.37:g.10825924C>A						EIF4G2_uc001mjb.2_5'UTR|EIF4G2_uc009ygf.2_5'UTR|EIF4G2_uc001mjd.2_Silent_p.L131L|EIF4G2_uc001mjf.1_5'UTR|SNORD97_uc009yge.2_5'Flank	p.L131L	NM_001418	NP_001409	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	6	810	-			131			MIF4G.			Silent	SNP	ENST00000526148.1	37	c.393G>T	CCDS31428.1																																																																																				0.443	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		37	76	1	0	3.21e-22	3.82e-22	37	76				
LRRC4C	57689	broad.mit.edu	37	11	40137567	40137567	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr11:40137567T>A	ENST00000278198.2	-	2	2239	c.276A>T	c.(274-276)aaA>aaT	p.K92N	LRRC4C_ENST00000527150.1_Missense_Mutation_p.K92N|LRRC4C_ENST00000528697.1_Missense_Mutation_p.K92N|LRRC4C_ENST00000530763.1_Missense_Mutation_p.K92N			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	92					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AGCTGTTCACTTTGATGATCT	0.473																																						uc001mxa.1		NA																	0				ovary(4)|skin(3)|central_nervous_system(1)	8						c.(274-276)AAA>AAT		netrin-G1 ligand precursor							104.0	96.0	99.0					11																	40137567		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137567T>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.276A>T	11.37:g.40137567T>A	ENSP00000278198:p.Lys92Asn					LRRC4C_uc001mxc.1_Missense_Mutation_p.K88N|LRRC4C_uc001mxd.1_Missense_Mutation_p.K88N|LRRC4C_uc001mxb.1_Missense_Mutation_p.K88N	p.K92N	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2240	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	92			LRR 1.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.276A>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	T	14.75	2.629006	0.46944	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82	5.76	1.77	0.24775	.	0.000000	0.85682	D	0.000000	T	0.81029	0.4738	N	0.12471	0.22	0.54753	D	0.999985	P	0.38020	0.615	B	0.40741	0.339	T	0.73802	-0.3868	10	0.27082	T	0.32	.	9.898	0.41331	0.0:0.2318:0.0:0.7682	.	92	Q9HCJ2	LRC4C_HUMAN	N	92	ENSP00000278198:K92N;ENSP00000436976:K92N;ENSP00000437132:K92N;ENSP00000434761:K92N	ENSP00000278198:K92N	K	-	3	2	LRRC4C	40094143	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.432000	0.21461	0.455000	0.26910	0.528000	0.53228	AAA		0.473	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		15	49	0	0	0	0	15	49				
SLC6A13	6540	broad.mit.edu	37	12	336790	336790	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:336790G>A	ENST00000343164.4	-	8	928	c.876C>T	c.(874-876)atC>atT	p.I292I	SLC6A13_ENST00000445055.2_Silent_p.I200I	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	292					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ACCCAAGACAGATGGCGAAGG	0.562																																						uc001qic.1		NA																	0					0						c.(874-876)ATC>ATT		solute carrier family 6 (neurotransmitter							127.0	97.0	108.0					12																	336790		2203	4300	6503	SO:0001819	synonymous_variant	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:336790G>A	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.876C>T	12.37:g.336790G>A						SLC6A13_uc009zdj.1_Silent_p.I292I|SLC6A13_uc010sdl.1_Silent_p.I200I|SLC6A13_uc010sdm.1_Silent_p.I173I	p.I292I	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		8	929	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		292			Helical; Name=6; (Potential).		B4DJL1|Q8TCC2|Q8WW56	Silent	SNP	ENST00000343164.4	37	c.876C>T	CCDS8502.1																																																																																				0.562	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		6	47	0	0	0	0	6	47				
NOP2	4839	broad.mit.edu	37	12	6666180	6666180	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:6666180G>C	ENST00000322166.5	-	16	2539	c.2418C>G	c.(2416-2418)aaC>aaG	p.N806K	IFFO1_ENST00000396840.2_5'Flank|NOP2_ENST00000541778.1_Missense_Mutation_p.N802K|NOP2_ENST00000382421.3_Missense_Mutation_p.N839K|NOP2_ENST00000545200.1_3'UTR|NOP2_ENST00000399466.2_Missense_Mutation_p.N802K|NOP2_ENST00000542015.1_5'Flank|NOP2_ENST00000537442.1_Missense_Mutation_p.N806K|IFFO1_ENST00000356896.4_5'Flank|IFFO1_ENST00000336604.4_5'Flank	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	806					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						GCAGCTGGCTGTTGCCCCTGG	0.557																																						uc001qph.1		NA																	0				ovary(2)	2						c.(2404-2406)AAC>AAG		nucleolar protein 1, 120kDa							48.0	51.0	50.0					12																	6666180		1912	4134	6046	SO:0001583	missense	4839				positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr12:6666180G>C		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.2418C>G	12.37:g.6666180G>C	ENSP00000313272:p.Asn806Lys					IFFO1_uc001qpe.1_5'Flank|IFFO1_uc010sfe.1_5'Flank|IFFO1_uc001qpf.1_5'Flank|IFFO1_uc001qpc.1_5'Flank|IFFO1_uc001qpd.1_5'Flank|NOP2_uc009zeq.1_3'UTR|NOP2_uc001qpi.1_Missense_Mutation_p.N802K|NOP2_uc001qpj.1_Missense_Mutation_p.N231K	p.N802K	NM_001033714	NP_001028886	P46087	NOP2_HUMAN			16	2586	-			806					A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	37	c.2406C>G	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	G	9.814	1.183867	0.21870	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000399466;ENST00000322166;ENST00000541778	T;T;T;T;T	0.14022	2.55;2.54;2.55;2.55;2.55	4.86	-0.982	0.10266	.	.	.	.	.	T	0.09379	0.0231	L	0.29908	0.895	0.09310	N	1	B;B	0.22003	0.063;0.034	B;B	0.25291	0.026;0.059	T	0.35051	-0.9804	9	0.49607	T	0.09	15.8039	5.4375	0.16490	0.4255:0.1457:0.4288:0.0	.	806;802	P46087;P46087-2	NOP2_HUMAN;.	K	806;839;802;806;802	ENSP00000444437:N806K;ENSP00000371858:N839K;ENSP00000382392:N802K;ENSP00000313272:N806K;ENSP00000443150:N802K	ENSP00000313272:N806K	N	-	3	2	NOP2	6536441	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.979000	0.03774	-0.292000	0.08999	-1.134000	0.01955	AAC		0.557	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170		18	32	0	0	0	0	18	32				
LPCAT3	10162	broad.mit.edu	37	12	7086775	7086775	+	Silent	SNP	A	A	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:7086775A>T	ENST00000261407.4	-	10	1258	c.1173T>A	c.(1171-1173)gtT>gtA	p.V391V	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_Intron	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	391					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						TTTCCACAATAACAATGAGGA	0.547																																						uc001qsi.2		NA																	0				ovary(1)	1						c.(1171-1173)GTT>GTA		lysophosphatidylcholine acyltransferase 3							96.0	101.0	99.0					12																	7086775		2203	4300	6503	SO:0001819	synonymous_variant	10162				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity	g.chr12:7086775A>T	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.1173T>A	12.37:g.7086775A>T						EMG1_uc010sfv.1_Intron|LPCAT3_uc010sfw.1_Silent_p.V285V|LPCAT3_uc009zfp.2_RNA|LPCAT3_uc010sfx.1_RNA|LPCAT3_uc009zfq.1_Silent_p.V249V	p.V391V	NM_005768	NP_005759	Q6P1A2	MBOA5_HUMAN			10	1287	-			391					B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Silent	SNP	ENST00000261407.4	37	c.1173T>A	CCDS8572.1																																																																																				0.547	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		47	63	0	0	0	0	47	63				
GALNT6	11226	broad.mit.edu	37	12	51773260	51773260	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:51773260G>A	ENST00000543196.2	-	2	511	c.306C>T	c.(304-306)ttC>ttT	p.F102F	GALNT6_ENST00000603203.1_5'Flank|GALNT6_ENST00000356317.3_Silent_p.F102F			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	102					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCCGTTCCCAGAAGGGCTTCA	0.567																																						uc001ryk.2		NA																	0				ovary(2)	2						c.(304-306)TTC>TTT		polypeptide N-acetylgalactosaminyltransferase 6							83.0	86.0	85.0					12																	51773260		2203	4300	6503	SO:0001819	synonymous_variant	11226				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:51773260G>A	Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.306C>T	12.37:g.51773260G>A						GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Silent_p.F102F|GALNT6_uc010snh.1_Silent_p.F102F	p.F102F	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN			2	531	-			102			Lumenal (Potential).		Q8IYH4|Q9H6G2|Q9UIV5	Silent	SNP	ENST00000543196.2	37	c.306C>T	CCDS8813.1																																																																																				0.567	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		5	118	0	0	0	0	5	118				
MBD6	114785	broad.mit.edu	37	12	57919712	57919712	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:57919712A>T	ENST00000355673.3	+	6	1317	c.961A>T	c.(961-963)Agc>Tgc	p.S321C	MBD6_ENST00000431731.2_Missense_Mutation_p.S321C	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	321	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CTTCCTTGCTAGCAGCCTACT	0.692																																						uc001soj.1		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(961-963)AGC>TGC		methyl-CpG binding domain protein 6							31.0	35.0	34.0					12																	57919712		2202	4299	6501	SO:0001583	missense	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57919712A>T	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.961A>T	12.37:g.57919712A>T	ENSP00000347896:p.Ser321Cys					MBD6_uc001sok.1_Missense_Mutation_p.S188C|MBD6_uc001sol.1_5'Flank	p.S321C	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN			6	1185	+			321			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	c.961A>T	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	a	14.45	2.538412	0.45176	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	3.7	3.7	0.42460	.	0.244651	0.28778	N	0.014179	T	0.48333	0.1494	N	0.08118	0	0.42193	D	0.991734	D;D	0.76494	0.999;0.999	D;D	0.79784	0.987;0.993	T	0.46105	-0.9215	8	.	.	.	-4.5116	10.7278	0.46079	1.0:0.0:0.0:0.0	.	321;321	Q6P0P0;Q96DN6	.;MBD6_HUMAN	C	321	.	.	S	+	1	0	MBD6	56205979	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.158000	0.58150	1.900000	0.55004	0.454000	0.30748	AGC		0.692	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			15	27	0	0	0	0	15	27				
ATXN2	6311	broad.mit.edu	37	12	111948230	111948230	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:111948230G>T	ENST00000377617.3	-	12	2356	c.2195C>A	c.(2194-2196)gCt>gAt	p.A732D	ATXN2_ENST00000535949.1_Missense_Mutation_p.A443D|ATXN2_ENST00000389153.4_Missense_Mutation_p.A467D|ATXN2_ENST00000542287.2_Missense_Mutation_p.A467D|ATXN2_ENST00000550104.1_Missense_Mutation_p.A732D|ATXN2_ENST00000608853.1_Missense_Mutation_p.A572D	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	732	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGCAGGACTAGCAGGCGTAGG	0.493																																						uc001tsj.2		NA																	0				ovary(1)|breast(1)	2						c.(2194-2196)GCT>GAT		ataxin 2							165.0	167.0	166.0					12																	111948230		2203	4300	6503	SO:0001583	missense	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111948230G>T	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.2195C>A	12.37:g.111948230G>T	ENSP00000366843:p.Ala732Asp					ATXN2_uc001tsh.2_Missense_Mutation_p.A467D|ATXN2_uc001tsi.2_Missense_Mutation_p.A443D|ATXN2_uc001tsk.2_RNA	p.A732D	NM_002973	NP_002964	Q99700	ATX2_HUMAN			12	2357	-			732			Pro-rich.		A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	c.2195C>A	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	G	36	5.644363	0.96704	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949;ENST00000546483	T;T	0.69435	-0.38;-0.4	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.81484	0.4832	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.996;0.996;0.999	T	0.78534	-0.2167	10	0.46703	T	0.11	-11.7794	20.8794	0.99867	0.0:0.0:1.0:0.0	.	732;443;467	Q99700;Q24JQ7;F8VQP2	ATX2_HUMAN;.;.	D	467;732;732;467;443;11	ENSP00000366843:A732D;ENSP00000446576:A732D	ENSP00000366843:A732D	A	-	2	0	ATXN2	110432613	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.313000	0.96297	2.941000	0.99782	0.655000	0.94253	GCT		0.493	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		12	214	1	0	0.00136819	0.00144179	12	214				
OAS1	4938	broad.mit.edu	37	12	113354483	113354483	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:113354483A>G	ENST00000202917.5	+	4	1087	c.824A>G	c.(823-825)tAt>tGt	p.Y275C	OAS1_ENST00000445409.2_Missense_Mutation_p.Y275C|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000452357.2_Missense_Mutation_p.Y275C|OAS1_ENST00000551241.1_Missense_Mutation_p.Y275C	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	275					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						TGGACAAAGTATTATGACTTT	0.443																																						uc001tud.2		NA																	0				ovary(2)	2						c.(823-825)TAT>TGT		2',5'-oligoadenylate synthetase 1 isoform 1							109.0	103.0	105.0					12																	113354483		2203	4300	6503	SO:0001583	missense	4938				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113354483A>G	X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"""2',5'-oligoadenylate synthetase 1 (40-46 kD)"""	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.824A>G	12.37:g.113354483A>G	ENSP00000202917:p.Tyr275Cys					OAS1_uc010syn.1_Missense_Mutation_p.Y274C|OAS1_uc010syo.1_3'UTR|OAS1_uc001tub.2_Missense_Mutation_p.Y275C|OAS1_uc001tuc.2_Missense_Mutation_p.Y275C|OAS1_uc009zwf.2_Missense_Mutation_p.Y274C	p.Y275C	NM_016816	NP_058132	P00973	OAS1_HUMAN			4	930	+			275					A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	ENST00000202917.5	37	c.824A>G	CCDS41838.1	.	.	.	.	.	.	.	.	.	.	A	14.20	2.465730	0.43839	.	.	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000551241;ENST00000377508;ENST00000550689;ENST00000553152	T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81	4.84	3.67	0.42095	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	0.000000	0.45867	D	0.000328	T	0.61085	0.2319	M	0.68952	2.095	0.23855	N	0.996655	D;D;D;D;D	0.89917	0.976;1.0;0.976;0.971;0.97	P;D;P;P;P	0.79784	0.783;0.993;0.783;0.694;0.677	T	0.50668	-0.8801	10	0.42905	T	0.14	-5.0901	7.6204	0.28181	0.8113:0.0:0.0:0.1887	.	275;275;275;275;275	E7EMI9;F8VXY3;P00973;P00973-3;P00973-2	.;.;OAS1_HUMAN;.;.	C	275;275;275;275;275;271;21	ENSP00000202917:Y275C;ENSP00000388001:Y275C;ENSP00000415721:Y275C;ENSP00000448790:Y275C;ENSP00000448348:Y271C;ENSP00000449053:Y21C	ENSP00000202917:Y275C	Y	+	2	0	OAS1	111838866	0.763000	0.28462	0.105000	0.21289	0.055000	0.15305	1.944000	0.40263	0.860000	0.35481	0.383000	0.25322	TAT		0.443	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2			39	46	0	0	0	0	39	46				
GLT1D1	144423	broad.mit.edu	37	12	129360459	129360459	+	Splice_Site	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:129360459G>A	ENST00000442111.2	+	2	157	c.69G>A	c.(67-69)cgG>cgA	p.R23R	GLT1D1_ENST00000537468.1_Splice_Site_p.L12L|GLT1D1_ENST00000281703.6_Splice_Site_p.R23R|GLT1D1_ENST00000542193.1_5'UTR			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	23					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TTTGATAAAGGGCCCATCTAG	0.418																																						uc010tbh.1		NA																	0					0						c.(34-36)CTG>CTA		glycosyltransferase 1 domain containing 1							114.0	123.0	120.0					12																	129360459		2203	4300	6503	SO:0001630	splice_region_variant	144423				biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	g.chr12:129360459G>A		CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.69-1G>A	12.37:g.129360459G>A						GLT1D1_uc001uhx.1_Silent_p.R23R|GLT1D1_uc001uhy.1_RNA	p.L12L	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	2	45	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		Error:Variant_position_missing_in_Q96MS3_after_alignment					Q86XG8	Silent	SNP	ENST00000442111.2	37	c.36G>A																																																																																					0.418	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	NM_144669	Silent	55	96	0	0	0	0	55	96				
EP400	57634	broad.mit.edu	37	12	132446187	132446187	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:132446187C>A	ENST00000333577.4	+	2	1132	c.1023C>A	c.(1021-1023)aaC>aaA	p.N341K	EP400_ENST00000332482.4_Missense_Mutation_p.N341K|EP400_ENST00000389561.2_Missense_Mutation_p.N341K|EP400_ENST00000389562.2_Missense_Mutation_p.N341K|EP400_ENST00000330386.6_Missense_Mutation_p.N341K			Q96L91	EP400_HUMAN	E1A binding protein p400	341					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTGTGGGGAACACGGGAATGA	0.612																																						uc001ujn.2		NA																	0				central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(1021-1023)AAC>AAA		E1A binding protein p400							18.0	16.0	17.0					12																	132446187		2196	4277	6473	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132446187C>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1023C>A	12.37:g.132446187C>A	ENSP00000333602:p.Asn341Lys					EP400_uc001ujl.2_Missense_Mutation_p.N341K|EP400_uc001ujm.2_Missense_Mutation_p.N341K|EP400_uc001ujj.1_Missense_Mutation_p.N341K|EP400_uc001ujk.2_Missense_Mutation_p.N341K	p.N341K	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	1	1058	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	341					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.1023C>A		.	.	.	.	.	.	.	.	.	.	C	0.593	-0.832035	0.02713	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5	5.44	-6.01	0.02199	.	0.237819	0.48767	D	0.000167	T	0.81098	0.4752	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.23249	0.082;0.082;0.082;0.071;0.082	B;B;B;B;B	0.32624	0.036;0.036;0.036;0.149;0.036	T	0.63637	-0.6592	10	0.54805	T	0.06	.	16.585	0.84725	0.0:0.3058:0.0:0.6942	.	341;341;341;341;341	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	K	341	ENSP00000333602:N341K;ENSP00000374212:N341K;ENSP00000374213:N341K;ENSP00000331737:N341K;ENSP00000330620:N341K	ENSP00000330620:N341K	N	+	3	2	EP400	131012140	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.681000	0.05191	-1.176000	0.02747	-0.258000	0.10820	AAC		0.612	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		8	10	1	0	1.59e-06	1.78e-06	8	10				
FNDC3A	22862	broad.mit.edu	37	13	49762701	49762701	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr13:49762701G>C	ENST00000492622.2	+	17	2181	c.1876G>C	c.(1876-1878)Gat>Cat	p.D626H	FNDC3A_ENST00000398316.3_Missense_Mutation_p.D570H|FNDC3A_ENST00000541916.1_Missense_Mutation_p.D626H	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	626	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ACATCTTTGTGATCGACTGAA	0.393																																						uc001vcm.2		NA																	0				lung(2)	2						c.(1876-1878)GAT>CAT		fibronectin type III domain containing 3A							356.0	311.0	326.0					13																	49762701		2203	4300	6503	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49762701G>C	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.1876G>C	13.37:g.49762701G>C	ENSP00000417257:p.Asp626His					FNDC3A_uc001vcn.2_Missense_Mutation_p.D626H|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.D552H|FNDC3A_uc001vcq.2_Missense_Mutation_p.D570H	p.D626H	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	17	2181	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	626			Fibronectin type-III 4.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.1876G>C	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666498	0.88251	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.57107	0.42;0.42;0.42	5.71	5.71	0.89125	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.77538	0.4145	M	0.89095	3.005	0.80722	D	1	D;B;D	0.76494	0.995;0.32;0.999	D;B;D	0.74348	0.94;0.269;0.983	T	0.78999	-0.1982	10	0.45353	T	0.12	-15.0657	18.8348	0.92157	0.0:0.0:1.0:0.0	.	570;626;626	Q9Y2H6-2;G5E9X3;Q9Y2H6	.;.;FND3A_HUMAN	H	626;562;626;570	ENSP00000417257:D626H;ENSP00000441831:D626H;ENSP00000381362:D570H	ENSP00000338579:D562H	D	+	1	0	FNDC3A	48660702	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.107000	0.94261	2.693000	0.91896	0.585000	0.79938	GAT		0.393	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		7	171	0	0	0	0	7	171				
ATP7B	540	broad.mit.edu	37	13	52536026	52536026	+	Silent	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr13:52536026C>T	ENST00000242839.4	-	6	2049	c.1893G>A	c.(1891-1893)ctG>ctA	p.L631L	ATP7B_ENST00000418097.2_Silent_p.L631L|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000417240.2_5'UTR|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000400366.3_Silent_p.L520L|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000448424.2_Silent_p.L631L	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	631	HMA 6. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TTCTCTGGGCCAGGGAAGCAT	0.433									Wilson disease																													uc001vfw.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1891-1893)CTG>CTA		ATPase, Cu++ transporting, beta polypeptide							177.0	166.0	170.0					13																	52536026		1877	4097	5974	SO:0001819	synonymous_variant	540	Wilson_disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52536026C>T	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.1893G>A	13.37:g.52536026C>T						ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Intron|ATP7B_uc001vfy.2_Silent_p.L520L|ATP7B_uc010tgt.1_Silent_p.L631L|ATP7B_uc010tgu.1_Silent_p.L631L|ATP7B_uc010tgv.1_Silent_p.L631L|ATP7B_uc001vfv.2_5'Flank|ATP7B_uc010tgs.1_5'UTR|ATP7B_uc010tgw.1_Intron	p.L631L	NM_000053	NP_000044	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	6	2050	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	631			HMA 6.|Cytoplasmic (Potential).		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	ENST00000242839.4	37	c.1893G>A	CCDS41892.1																																																																																				0.433	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		12	43	0	0	0	0	12	43				
SLITRK5	26050	broad.mit.edu	37	13	88329424	88329424	+	Missense_Mutation	SNP	C	C	T	rs201788229		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr13:88329424C>T	ENST00000325089.6	+	2	2000	c.1781C>T	c.(1780-1782)gCg>gTg	p.A594V	SLITRK5_ENST00000400028.3_Missense_Mutation_p.A353V	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	594	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ATCTGTAAGGCGCCCAAAAAA	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		17779	0.001		0.0	False		,,,				2504	0.0					uc001vln.2		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(1780-1782)GCG>GTG		SLIT and NTRK-like family, member 5 precursor							163.0	147.0	152.0					13																	88329424		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88329424C>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1781C>T	13.37:g.88329424C>T	ENSP00000366283:p.Ala594Val					SLITRK5_uc010tic.1_Missense_Mutation_p.A353V	p.A594V	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	2000	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		594			LRRCT 2.|Extracellular (Potential).		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1781C>T	CCDS9465.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.08	2.131263	0.37630	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.53206	0.63;0.66	5.26	5.26	0.73747	Cysteine-rich flanking region, C-terminal (1);	0.475430	0.21468	N	0.074054	T	0.39410	0.1077	L	0.38175	1.15	0.32530	N	0.535136	B;B	0.26775	0.159;0.116	B;B	0.23716	0.043;0.048	T	0.44952	-0.9294	9	.	.	.	-8.6561	16.3458	0.83132	0.0:1.0:0.0:0.0	.	353;594	B4DSH5;O94991	.;SLIK5_HUMAN	V	594;353	ENSP00000366283:A594V;ENSP00000442244:A353V	.	A	+	2	0	SLITRK5	87127425	0.996000	0.38824	1.000000	0.80357	0.980000	0.70556	4.899000	0.63245	2.443000	0.82685	0.555000	0.69702	GCG		0.532	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			23	136	0	0	0	0	23	136				
TMTC4	84899	broad.mit.edu	37	13	101287320	101287320	+	Silent	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr13:101287320C>T	ENST00000376234.3	-	10	1464	c.1275G>A	c.(1273-1275)ctG>ctA	p.L425L	TMTC4_ENST00000342624.5_Silent_p.L444L|TMTC4_ENST00000328767.5_Silent_p.L314L|TMTC4_ENST00000462211.1_5'UTR	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	425						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ATCCAAAAGTCAGCAGCACAC	0.527																																						uc001vou.2		NA																	0				ovary(2)|breast(1)	3						c.(1273-1275)CTG>CTA		transmembrane and tetratricopeptide repeat							81.0	76.0	78.0					13																	101287320		2203	4300	6503	SO:0001819	synonymous_variant	84899					integral to membrane	binding	g.chr13:101287320C>T		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1275G>A	13.37:g.101287320C>T						TMTC4_uc001vot.2_Silent_p.L444L|TMTC4_uc010tja.1_Silent_p.L314L|TMTC4_uc001vov.1_Silent_p.L170L|TMTC4_uc001vow.1_Silent_p.L208L	p.L425L	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN			10	1435	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		425			Helical; (Potential).		A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Silent	SNP	ENST00000376234.3	37	c.1275G>A	CCDS41904.1																																																																																				0.527	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		24	40	0	0	0	0	24	40				
AJUBA	84962	broad.mit.edu	37	14	23451169	23451169	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr14:23451169G>A	ENST00000262713.2	-	1	682	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.4_ENST00000557615.1_RNA|AJUBA_ENST00000361265.4_Nonsense_Mutation_p.Q103*|RP11-298I3.5_ENST00000555074.1_Intron|RP11-298I3.4_ENST00000555294.1_RNA	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	103	PreLIM.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										GGCAACGACTGAGGTAGAGGC	0.706																																						uc001whz.2		NA																	0					0						c.(307-309)CAG>TAG		ajuba isoform 1							5.0	7.0	7.0					14																	23451169		2112	4200	6312	SO:0001587	stop_gained	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23451169G>A	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.307C>T	14.37:g.23451169G>A	ENSP00000262713:p.Gln103*						p.Q103*	NM_032876	NP_116265	Q96IF1	JUB_HUMAN		GBM - Glioblastoma multiforme(265;0.0122)	1	683	-	all_cancers(95;4.6e-05)		103			PreLIM.		A8MX18|D3DS37	Nonsense_Mutation	SNP	ENST00000262713.2	37	c.307C>T	CCDS9581.1	.	.	.	.	.	.	.	.	.	.	G	33	5.247978	0.95305	.	.	ENSG00000129474	ENST00000262713;ENST00000361265	.	.	.	4.34	4.34	0.51931	.	2.500410	0.01505	N	0.017698	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	14.3598	0.66764	0.0:0.0:1.0:0.0	.	.	.	.	X	103	.	ENSP00000262713:Q103X	Q	-	1	0	JUB	22521009	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.998000	0.40796	2.253000	0.74438	0.561000	0.74099	CAG		0.706	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			7	1	0	0	0	0	7	1				
RALGAPA1	253959	broad.mit.edu	37	14	36103939	36103939	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr14:36103939C>A	ENST00000389698.3	-	32	4708	c.4318G>T	c.(4318-4320)Gct>Tct	p.A1440S	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.A1487S|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.A1453S|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.A1440S	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1440	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAACACTGAGCTCCATAAACA	0.343																																						uc001wti.2		NA																	0				ovary(3)|breast(1)	4						c.(4318-4320)GCT>TCT		Ral GTPase activating protein, alpha subunit 1							37.0	35.0	36.0					14																	36103939		2203	4300	6503	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36103939C>A	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.4318G>T	14.37:g.36103939C>A	ENSP00000374348:p.Ala1440Ser					RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Missense_Mutation_p.A1440S|RALGAPA1_uc010tpv.1_Missense_Mutation_p.A1453S|RALGAPA1_uc010tpw.1_Missense_Mutation_p.A1487S	p.A1440S	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN			32	4709	-			1440			Minimal domain that binds to TCF3/E12 (By similarity).		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.4318G>T	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	C	4.558	0.103652	0.08731	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53	5.48	4.59	0.56863	.	0.107337	0.64402	D	0.000005	T	0.13586	0.0329	N	0.03608	-0.345	0.43647	D	0.996052	B;B;B;B	0.12013	0.005;0.0;0.001;0.0	B;B;B;B	0.21708	0.036;0.005;0.009;0.002	T	0.08351	-1.0726	10	0.07813	T	0.8	-11.0622	13.0981	0.59204	0.4349:0.5651:0.0:0.0	.	1487;1453;1440;1440	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	S	1440;1440;1440;1487;78;1453;1487	ENSP00000374348:A1440S;ENSP00000302647:A1440S;ENSP00000258840:A1487S;ENSP00000451133:A78S;ENSP00000371803:A1453S;ENSP00000451877:A1487S	ENSP00000258840:A1487S	A	-	1	0	RALGAPA1	35173690	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.263000	0.33004	1.442000	0.47568	0.650000	0.86243	GCT		0.343	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		7	45	1	0	5.18e-06	5.71e-06	7	45				
PSMC6	5706	broad.mit.edu	37	14	53177865	53177865	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr14:53177865T>A	ENST00000606149.1	+	5	321	c.305T>A	c.(304-306)aTg>aAg	p.M102K	PSMC6_ENST00000445930.2_Missense_Mutation_p.M116K	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	102					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					GCTTTGGATATGACTACACTA	0.328																																						uc010tqx.1		NA																	0				lung(1)	1						c.(346-348)ATG>AAG		proteasome 26S ATPase subunit 6							104.0	99.0	101.0					14																	53177865		2203	4300	6503	SO:0001583	missense	5706				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging	g.chr14:53177865T>A		CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.305T>A	14.37:g.53177865T>A	ENSP00000475721:p.Met102Lys					PSMC6_uc010tqw.1_Missense_Mutation_p.M82K	p.M116K	NM_002806	NP_002797	P62333	PRS10_HUMAN			5	347	+	Breast(41;0.176)		102					B2R975|P49719|Q6IBU3|Q92524	Missense_Mutation	SNP	ENST00000606149.1	37	c.347T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.6|21.6	4.174879|4.174879	0.78564|0.78564	.|.	.|.	ENSG00000100519|ENSG00000100519	ENST00000445930|ENST00000555339;ENST00000556813	D|.	0.92911|.	-3.13|.	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	0.111811|.	0.85682|.	D|.	0.000000|.	T|.	0.68586|.	0.3017|.	L|L	0.55213|0.55213	1.73|1.73	0.80722|0.80722	D|D	1|1	B;B|.	0.27498|.	0.029;0.18|.	B;B|.	0.25987|.	0.01;0.065|.	T|.	0.67333|.	-0.5697|.	10|.	0.37606|.	T|.	0.19|.	.|.	15.0458|15.0458	0.71827|0.71827	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	102;82|.	P62333;B4DR91|.	PRS10_HUMAN;.|.	K|X	116|62;101	ENSP00000401802:M116K|.	ENSP00000401802:M116K|.	M|Y	+|+	2|3	0|2	PSMC6|PSMC6	52247615|52247615	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.600000|7.600000	0.82769|0.82769	2.022000|2.022000	0.59522|0.59522	0.529000|0.529000	0.55759|0.55759	ATG|TAT		0.328	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470741.1	NM_002806		49	31	0	0	0	0	49	31				
TRIP11	9321	broad.mit.edu	37	14	92471192	92471192	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr14:92471192G>C	ENST00000267622.4	-	11	3501	c.3128C>G	c.(3127-3129)aCt>aGt	p.T1043S		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1043					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AATCTGTTTAGTTAAAGATAT	0.318			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NA		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(3127-3129)ACT>AGT		thyroid hormone receptor interactor 11							51.0	53.0	53.0					14																	92471192		2203	4298	6501	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92471192G>C	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3128C>G	14.37:g.92471192G>C	ENSP00000267622:p.Thr1043Ser					TRIP11_uc010auf.1_Missense_Mutation_p.T779S	p.T1043S	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	3916	-			1043			Potential.		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.3128C>G	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.23|10.23	1.293770|1.293770	0.23564|0.23564	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000554357|ENST00000267622;ENST00000542257	.|T	.|0.04809	.|3.55	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	.|0.242513	.|0.40554	.|N	.|0.001072	T|T	0.03871|0.03871	0.0109|0.0109	N|N	0.12746|0.12746	0.255|0.255	0.25844|0.25844	N|N	0.984025|0.984025	.|B;P	.|0.36577	.|0.319;0.558	.|B;B	.|0.39935	.|0.187;0.314	T|T	0.46303|0.46303	-0.9201|-0.9201	5|10	.|0.08837	.|T	.|0.75	.|.	15.6662|15.6662	0.77230|0.77230	0.0:0.1752:0.8248:0.0|0.0:0.1752:0.8248:0.0	.|.	.|779;1043	.|F5H1Z0;Q15643	.|.;TRIPB_HUMAN	K|S	758|1043;779	.|ENSP00000267622:T1043S	.|ENSP00000267622:T1043S	N|T	-|-	3|2	2|0	TRIP11|TRIP11	91540945|91540945	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.989000|0.989000	0.77384|0.77384	5.512000|5.512000	0.67030|0.67030	2.695000|2.695000	0.91970|0.91970	0.558000|0.558000	0.71614|0.71614	AAC|ACT		0.318	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			23	35	0	0	0	0	23	35				
CEP152	22995	broad.mit.edu	37	15	49083442	49083442	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr15:49083442C>T	ENST00000380950.2	-	8	1151	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	CEP152_ENST00000399334.3_Missense_Mutation_p.E322K|CEP152_ENST00000325747.5_Missense_Mutation_p.E229K	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	322					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		ACCTGTTCTTCATTGACTTTT	0.299																																						uc001zwy.2		NA																	0				lung(2)	2						c.(964-966)GAA>AAA		centrosomal protein 152kDa							139.0	121.0	127.0					15																	49083442		1802	4076	5878	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49083442C>T	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.964G>A	15.37:g.49083442C>T	ENSP00000370337:p.Glu322Lys					CEP152_uc001zwz.2_Missense_Mutation_p.E322K|CEP152_uc001zxa.1_Missense_Mutation_p.E229K	p.E322K	NM_014985	NP_055800	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	8	998	-		all_lung(180;0.0428)	322			Potential.		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.964G>A	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787248	0.90367	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	D;D;D	0.83837	-1.77;-1.77;-1.77	5.56	5.56	0.83823	.	0.095035	0.64402	D	0.000001	D	0.89894	0.6847	M	0.64404	1.975	0.58432	D	0.999992	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.87578	0.991;0.998;0.997	D	0.87198	0.2239	10	0.28530	T	0.3	-22.6568	19.534	0.95242	0.0:1.0:0.0:0.0	.	229;322;322	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	K	322;229;322;322	ENSP00000370337:E322K;ENSP00000321000:E229K;ENSP00000382271:E322K	ENSP00000321000:E229K	E	-	1	0	CEP152	46870734	1.000000	0.71417	0.990000	0.47175	0.989000	0.77384	6.278000	0.72614	2.613000	0.88420	0.655000	0.94253	GAA		0.299	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		17	41	0	0	0	0	17	41				
WDR72	256764	broad.mit.edu	37	15	53889439	53889439	+	Silent	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr15:53889439C>T	ENST00000396328.1	-	18	3224	c.2985G>A	c.(2983-2985)gcG>gcA	p.A995A	WDR72_ENST00000360509.5_Silent_p.A995A|WDR72_ENST00000557913.1_Silent_p.A992A|WDR72_ENST00000559418.1_Silent_p.A1005A	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	995										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GTTGAACTTCCGCCAAGAGAA	0.378																																						uc002acj.2		NA																	0				lung(1)|skin(1)	2						c.(2983-2985)GCG>GCA		WD repeat domain 72							207.0	192.0	197.0					15																	53889439		2194	4293	6487	SO:0001819	synonymous_variant	256764							g.chr15:53889439C>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2985G>A	15.37:g.53889439C>T							p.A995A	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	18	3027	-			995					Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	c.2985G>A	CCDS10151.1																																																																																				0.378	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		9	148	0	0	0	0	9	148				
IQCH	64799	broad.mit.edu	37	15	67757466	67757466	+	Splice_Site	SNP	T	T	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr15:67757466T>C	ENST00000335894.4	+	17	2573	c.2507T>C	c.(2506-2508)gTg>gCg	p.V836A	IQCH_ENST00000546225.1_Splice_Site_p.V493A|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000360277.4_Splice_Site_p.V497A|IQCH_ENST00000358767.3_Splice_Site_p.V572A	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	836										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TTTAATCAGGTGTGGGCAACC	0.517																																						uc002aqo.1		NA																	0				skin(3)|ovary(1)	4						c.(2506-2508)GTG>GCG		IQ motif containing H isoform 1							82.0	72.0	76.0					15																	67757466		2201	4299	6500	SO:0001630	splice_region_variant	64799							g.chr15:67757466T>C	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.2506-1T>C	15.37:g.67757466T>C						IQCH_uc002aqq.1_Missense_Mutation_p.V493A|IQCH_uc002aqp.1_Missense_Mutation_p.V497A|uc002aqr.1_Intron	p.V836A	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	17	2554	+			836					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	c.2507T>C	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.801499	0.90538	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	T;T;T;T	0.47528	0.85;0.86;0.84;0.84	5.95	5.95	0.96441	.	0.060447	0.64402	D	0.000004	T	0.60470	0.2271	M	0.76574	2.34	0.80722	D	1	P;P;P	0.48764	0.915;0.915;0.887	P;P;P	0.50314	0.469;0.602;0.637	T	0.65541	-0.6143	10	0.72032	D	0.01	-6.5539	15.5971	0.76595	0.0:0.0:0.0:1.0	.	493;497;836	Q86VS3-2;Q86VS3-4;Q86VS3	.;.;IQCH_HUMAN	A	572;493;836;497	ENSP00000351617:V572A;ENSP00000444118:V493A;ENSP00000336861:V836A;ENSP00000353419:V497A	ENSP00000336861:V836A	V	+	2	0	IQCH	65544520	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.528000	0.73807	2.279000	0.76181	0.533000	0.62120	GTG		0.517	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784	Missense_Mutation	5	80	0	0	0	0	5	80				
AKAP13	11214	broad.mit.edu	37	15	86201776	86201776	+	Missense_Mutation	SNP	G	G	T	rs181593659	byFrequency	TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr15:86201776G>T	ENST00000394518.2	+	12	4849	c.4754G>T	c.(4753-4755)cGa>cTa	p.R1585L	AKAP13_ENST00000361243.2_Intron|AKAP13_ENST00000560579.1_3'UTR|RP11-815J21.4_ENST00000558980.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1585					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGTTCAATGCGAGTTCTTGGG	0.433																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1		NA																	0				central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(4753-4755)CGA>CTA		A-kinase anchor protein 13 isoform 2							219.0	174.0	189.0					15																	86201776		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86201776G>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.4754G>T	15.37:g.86201776G>T	ENSP00000378026:p.Arg1585Leu					AKAP13_uc002blt.1_Intron|AKAP13_uc002blu.1_Intron|AKAP13_uc010bnf.1_Intron|AKAP13_uc002blw.1_Intron|AKAP13_uc010bne.1_Missense_Mutation_p.R238L	p.R1585L	NM_007200	NP_009131	Q12802	AKP13_HUMAN			12	4924	+			1585					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.4754G>T	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867828	0.51588	.	.	ENSG00000170776	ENST00000394518	T	0.11604	2.76	5.5	4.57	0.56435	.	.	.	.	.	T	0.08802	0.0218	L	0.44542	1.39	0.80722	D	1	B	0.32203	0.36	B	0.22601	0.04	T	0.12811	-1.0533	9	0.10636	T	0.68	.	14.0911	0.64990	0.0734:0.0:0.9266:0.0	.	1585	Q12802	AKP13_HUMAN	L	1585	ENSP00000378026:R1585L	ENSP00000378026:R1585L	R	+	2	0	AKAP13	84002780	1.000000	0.71417	0.998000	0.56505	0.863000	0.49368	3.206000	0.51098	1.433000	0.47394	0.655000	0.94253	CGA		0.433	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		6	131	1	0	0.00307968	0.0032217	6	131				
NOXO1	124056	broad.mit.edu	37	16	2030459	2030459	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr16:2030459C>T	ENST00000397280.4	-	4	328	c.325G>A	c.(325-327)Gcg>Acg	p.A109T	NOXO1_ENST00000354249.4_Missense_Mutation_p.A103T|TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000566005.1_Missense_Mutation_p.A108T|AC005606.1_ENST00000598236.1_5'Flank|NOXO1_ENST00000356120.4_Missense_Mutation_p.A104T			Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	109	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				extracellular matrix disassembly (GO:0022617)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|phospholipid binding (GO:0005543)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			lung(2)	2					Ecabet(DB05265)	TCTGCAGTCGCCAGCAGCCTC	0.682																																					Pancreas(104;2811 2841 4129)|Esophageal Squamous(25;910 1225 43728)	uc002cnx.2		NA																	0					0						c.(325-327)GCG>ACG		NADPH oxidase organizer 1 isoform c							19.0	27.0	24.0					16																	2030459		2190	4288	6478	SO:0001583	missense	124056				cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity	g.chr16:2030459C>T	AF532985	CCDS10454.1, CCDS10455.1, CCDS42101.1, CCDS58406.1	16p13.3	2008-02-05			ENSG00000196408	ENSG00000196408			19404	protein-coding gene	gene with protein product		611256					Standard	NM_144603		Approved	P41NOXA, P41NOXB, P41NOXC, SH3PXD5, SNX28	uc002cnx.4	Q8NFA2	OTTHUMG00000128707	ENST00000397280.4:c.325G>A	16.37:g.2030459C>T	ENSP00000380450:p.Ala109Thr					NOXO1_uc002cnz.2_Missense_Mutation_p.A103T|NOXO1_uc002coa.2_Missense_Mutation_p.A108T|NOXO1_uc002cny.2_Missense_Mutation_p.A104T	p.A109T	NM_172168	NP_751908	Q8NFA2	NOXO1_HUMAN			4	329	-			109			PX.		Q86YM1|Q8NFA3|Q96B73	Missense_Mutation	SNP	ENST00000397280.4	37	c.325G>A	CCDS42101.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687541	0.29962	.	.	ENSG00000196408	ENST00000354249;ENST00000356120;ENST00000397280	T;T;T	0.69685	-0.42;1.16;1.16	4.88	0.27	0.15635	Phox homologous domain (4);	0.761329	0.13262	N	0.401249	T	0.59649	0.2209	M	0.70903	2.155	0.23700	N	0.997077	P;P;P;P	0.41080	0.692;0.692;0.692;0.737	B;B;B;B	0.43052	0.374;0.374;0.284;0.406	T	0.48917	-0.8992	10	0.26408	T	0.33	-5.2179	1.4923	0.02459	0.1619:0.3337:0.3155:0.1889	.	108;103;104;109	Q8NFA2-2;Q8NFA2-4;Q8NFA2-3;Q8NFA2	.;.;.;NOXO1_HUMAN	T	103;104;109	ENSP00000346195:A103T;ENSP00000348435:A104T;ENSP00000380450:A109T	ENSP00000346195:A103T	A	-	1	0	NOXO1	1970460	0.105000	0.21958	0.203000	0.23512	0.027000	0.11550	0.538000	0.23160	0.103000	0.17682	0.561000	0.74099	GCG		0.682	NOXO1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250612.1			14	24	0	0	0	0	14	24				
MMP25	64386	broad.mit.edu	37	16	3100445	3100445	+	Missense_Mutation	SNP	G	G	A	rs202155408		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr16:3100445G>A	ENST00000336577.4	+	4	796	c.559G>A	c.(559-561)Ggg>Agg	p.G187R	MMP25_ENST00000570755.1_3'UTR|RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	200					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	CCCCTTCGACGGGTTGGGGGG	0.612																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	uc002cth.2		NA																	0					0						c.(559-561)GGG>AGG		matrix metalloproteinase 25 preproprotein							46.0	46.0	46.0					16																	3100445		2197	4300	6497	SO:0001583	missense	64386				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr16:3100445G>A	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.559G>A	16.37:g.3100445G>A	ENSP00000337816:p.Gly187Arg					MMP25_uc002cti.1_Missense_Mutation_p.G123R	p.G187R	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN			4	796	+			187					Q96F04|Q96TE2	Missense_Mutation	SNP	ENST00000336577.4	37	c.559G>A	CCDS10492.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282884	0.59867	.	.	ENSG00000008516	ENST00000336577;ENST00000325800	T	0.28666	1.6	4.96	4.96	0.65561	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.49916	D	0.000131	T	0.70037	0.3178	H	0.97265	3.97	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82096	-0.0626	10	0.87932	D	0	.	15.6704	0.77270	0.0:0.0:1.0:0.0	.	111;187	O43923;Q9NPA2	.;MMP25_HUMAN	R	187;114	ENSP00000337816:G187R	ENSP00000324953:G114R	G	+	1	0	MMP25	3040446	1.000000	0.71417	0.786000	0.31890	0.099000	0.18886	9.684000	0.98659	2.299000	0.77371	0.655000	0.94253	GGG		0.612	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468		8	41	0	0	0	0	8	41				
ACSM3	6296	broad.mit.edu	37	16	20781491	20781491	+	Silent	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr16:20781491C>T	ENST00000289416.5	+	2	610	c.135C>T	c.(133-135)tcC>tcT	p.S45S	ACSM3_ENST00000450120.2_5'UTR|ACSM3_ENST00000440284.2_Silent_p.S45S	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	45					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						ACTATGAATCCATGAAACAGG	0.443																																						uc002dhr.2		NA																	0				ovary(1)	1						c.(133-135)TCC>TCT		SA hypertension-associated homolog isoform 1							81.0	78.0	79.0					16																	20781491		2201	4300	6501	SO:0001819	synonymous_variant	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20781491C>T	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.135C>T	16.37:g.20781491C>T						ACSM3_uc002dhq.2_Silent_p.S45S|ACSM3_uc010vba.1_Silent_p.S37S	p.S45S	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN			2	322	+			45					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Silent	SNP	ENST00000289416.5	37	c.135C>T	CCDS10589.1																																																																																				0.443	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		31	49	0	0	0	0	31	49				
LYRM1	57149	broad.mit.edu	37	16	20927015	20927015	+	Silent	SNP	G	G	A	rs138841536	byFrequency	TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr16:20927015G>A	ENST00000396052.2	+	4	538	c.138G>A	c.(136-138)acG>acA	p.T46T	LYRM1_ENST00000412082.2_Intron|LYRM1_ENST00000569023.1_Silent_p.T46T|LYRM1_ENST00000568663.1_Silent_p.T46T|LYRM1_ENST00000219168.4_Silent_p.T46T|LYRM1_ENST00000567954.1_Silent_p.T46T|LYRM1_ENST00000439021.1_Silent_p.T46T|LYRM1_ENST00000562740.1_Intron			O43325	LYRM1_HUMAN	LYR motif containing 1	46						mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|prostate(1)	2						AAGCCAGAACGCTGTTCCGGA	0.423													G|||	2	0.000399361	0.0	0.0	5008	,	,		19938	0.001		0.001	False		,,,				2504	0.0					uc010bwj.2		NA																	0					0						c.(136-138)ACG>ACA		LYR motif containing 1		G	,,	0,4402		0,0,2201	77.0	71.0	73.0		138,138,138	-9.3	0.9	16	dbSNP_134	73	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	LYRM1	NM_001128301.1,NM_001128302.1,NM_020424.3	,,	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	,,	46/123,46/123,46/123	20927015	2,13000	2201	4300	6501	SO:0001819	synonymous_variant	57149					nucleus		g.chr16:20927015G>A		CCDS10593.1	16p12.2	2008-02-05			ENSG00000102897	ENSG00000102897		"""LYR motif containing"""	25074	protein-coding gene	gene with protein product		614709				10493829	Standard	NM_020424		Approved	A211C6.1	uc010bwl.3	O43325	OTTHUMG00000131554	ENST00000396052.2:c.138G>A	16.37:g.20927015G>A						LYRM1_uc010bwi.1_RNA|LYRM1_uc010bwk.2_Intron|LYRM1_uc002dia.3_Silent_p.T46T|LYRM1_uc010bwl.2_Silent_p.T46T|LYRM1_uc010bwm.2_Intron|LYRM1_uc002dib.2_Silent_p.T46T	p.T46T	NM_020424	NP_065157	O43325	LYRM1_HUMAN			2	439	+			46					B2R4M5	Silent	SNP	ENST00000396052.2	37	c.138G>A	CCDS10593.1																																																																																				0.423	LYRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254416.1	NM_020424		26	43	0	0	0	0	26	43				
GTF3C1	2975	broad.mit.edu	37	16	27476145	27476145	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr16:27476145G>A	ENST00000356183.4	-	34	5383	c.5368C>T	c.(5368-5370)Cag>Tag	p.Q1790*	GTF3C1_ENST00000561623.1_Nonsense_Mutation_p.Q1790*	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1790					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ACCTGATGCTGCTCCAGGAGG	0.677																																						uc002dov.1		NA																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(5368-5370)CAG>TAG		general transcription factor IIIC, polypeptide							13.0	13.0	13.0					16																	27476145		1898	3652	5550	SO:0001587	stop_gained	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27476145G>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.5368C>T	16.37:g.27476145G>A	ENSP00000348510:p.Gln1790*					GTF3C1_uc002dou.2_Nonsense_Mutation_p.Q1790*	p.Q1790*	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			34	5408	-			1790					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Nonsense_Mutation	SNP	ENST00000356183.4	37	c.5368C>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	44	10.672427	0.99447	.	.	ENSG00000077235	ENST00000356183	.	.	.	4.99	1.97	0.26223	.	0.853756	0.10510	N	0.666299	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-0.2944	7.4805	0.27402	0.2755:0.0:0.7245:0.0	.	.	.	.	X	1790	.	ENSP00000348510:Q1790X	Q	-	1	0	GTF3C1	27383646	0.000000	0.05858	0.319000	0.25293	0.763000	0.43281	0.240000	0.18042	0.533000	0.28675	0.561000	0.74099	CAG		0.677	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		9	17	0	0	0	0	9	17				
CHST5	23563	broad.mit.edu	37	16	75564112	75564112	+	Silent	SNP	G	G	A	rs372652437		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr16:75564112G>A	ENST00000336257.3	-	3	1565	c.171C>T	c.(169-171)gcC>gcT	p.A57A	CHST5_ENST00000541075.1_Silent_p.A63A|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	57					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CCTCGCCGCCGGCTGGGGATG	0.647																																						uc002fei.2		NA																	0					0						c.(169-171)GCC>GCT		carbohydrate (N-acetylglucosamine 6-O)		G		1,4393	2.1+/-5.4	0,1,2196	31.0	28.0	29.0		171	-4.3	0.0	16		29	0,8600		0,0,4300	no	coding-synonymous	CHST5	NM_024533.4		0,1,6496	AA,AG,GG		0.0,0.0228,0.0077		57/412	75564112	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75564112G>A	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.171C>T	16.37:g.75564112G>A						CHST5_uc002fej.1_Silent_p.A63A	p.A57A	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN			3	1566	-			57			Lumenal (Potential).		B2RV23|Q7LCN3|Q9UBY3	Silent	SNP	ENST00000336257.3	37	c.171C>T	CCDS10919.1																																																																																				0.647	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		8	16	0	0	0	0	8	16				
GSG2	83903	broad.mit.edu	37	17	3627636	3627636	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:3627636C>T	ENST00000325418.4	+	1	426	c.407C>T	c.(406-408)cCg>cTg	p.P136L	ITGAE_ENST00000263087.4_Intron|CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000571185.1_5'UTR	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	136					histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										CTCCGACTTCCGCCCTTCCCC	0.726																																						uc002fwp.2		NA																	0					0						c.(406-408)CCG>CTG		haspin							7.0	9.0	8.0					17																	3627636		2152	4199	6351	SO:0001583	missense	83903				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3627636C>T	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.407C>T	17.37:g.3627636C>T	ENSP00000325290:p.Pro136Leu					ITGAE_uc002fwo.3_Intron|ITGAE_uc002fwn.3_5'Flank	p.P136L	NM_031965	NP_114171	Q8TF76	HASP_HUMAN			1	440	+			136					Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	c.407C>T	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413432	0.42817	.	.	ENSG00000177602	ENST00000325418	T	0.16743	2.32	4.39	3.42	0.39159	.	0.000000	0.42964	D	0.000639	T	0.12092	0.0294	L	0.29908	0.895	0.09310	N	0.999999	B	0.22604	0.072	B	0.10450	0.005	T	0.20009	-1.0288	10	0.87932	D	0	-19.8256	8.7838	0.34807	0.0:0.81:0.0:0.19	.	136	Q8TF76	HASP_HUMAN	L	136	ENSP00000325290:P136L	ENSP00000325290:P136L	P	+	2	0	GSG2	3574385	0.500000	0.26091	0.643000	0.29450	0.212000	0.24457	0.463000	0.21972	1.137000	0.42214	0.467000	0.42956	CCG		0.726	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		3	5	0	0	0	0	3	5				
TP53	7157	broad.mit.edu	37	17	7577572	7577572	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:7577572T>C	ENST00000269305.4	-	7	898	c.709A>G	c.(709-711)Atg>Gtg	p.M237V	TP53_ENST00000413465.2_Missense_Mutation_p.M237V|TP53_ENST00000445888.2_Missense_Mutation_p.M237V|TP53_ENST00000420246.2_Missense_Mutation_p.M237V|TP53_ENST00000455263.2_Missense_Mutation_p.M237V|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.M237V	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	237	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.M237V(6)|p.?(5)|p.M237L(5)|p.M237fs*10(2)|p.Y236_M237delYM(1)|p.Y236_M237insXX(1)|p.H233fs*6(1)|p.M144L(1)|p.M237_N239delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.M237fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTGTTACACATGTAGTTGTAG	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		36	Substitution - Missense(12)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Deletion - In frame(4)|Insertion - In frame(1)|Complex - compound substitution(1)	p.M237I(97)|p.M237K(8)|p.0?(7)|p.M237V(6)|p.M237fs*10(4)|p.M237R(3)|p.M237T(2)|p.M237L(2)|p.Y236_M237delYM(1)|p.Y236_M237insXX(1)|p.M237_N239delMCN(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.M237fs*1(1)	haematopoietic_and_lymphoid_tissue(6)|breast(6)|biliary_tract(5)|upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(2)|urinary_tract(2)|ovary(2)|cervix(1)|stomach(1)|large_intestine(1)|lung(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(709-711)ATG>GTG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							128.0	101.0	110.0					17																	7577572		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577572T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.709A>G	17.37:g.7577572T>C	ENSP00000269305:p.Met237Val	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.M237V|TP53_uc002gih.2_Missense_Mutation_p.M237V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.M105V|TP53_uc010cng.1_Missense_Mutation_p.M105V|TP53_uc002gii.1_Missense_Mutation_p.M105V|TP53_uc010cnh.1_Missense_Mutation_p.M237V|TP53_uc010cni.1_Missense_Mutation_p.M237V|TP53_uc002gij.2_Missense_Mutation_p.M237V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.M144V|TP53_uc002gio.2_Missense_Mutation_p.M105V	p.M237V	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	903	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	237		M -> L (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.709A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111049	0.77210	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	M	0.64997	1.995	0.58432	D	0.999992	D;D;D;D;D;D	0.89917	0.999;0.989;1.0;0.999;0.997;0.999	D;P;D;D;D;D	0.91635	0.997;0.749;0.999;0.999;0.997;0.997	D	0.97551	1.0092	10	0.87932	D	0	-32.6033	11.6823	0.51466	0.0:0.0:0.0:1.0	.	237;237;144;237;237;237	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	V	237;237;237;237;237;237;226;144;105;144	ENSP00000410739:M237V;ENSP00000352610:M237V;ENSP00000269305:M237V;ENSP00000398846:M237V;ENSP00000391127:M237V;ENSP00000391478:M237V;ENSP00000425104:M105V;ENSP00000423862:M144V	ENSP00000269305:M237V	M	-	1	0	TP53	7518297	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.770000	0.85390	2.074000	0.62210	0.379000	0.24179	ATG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	54	0	0	0	0	31	54				
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H179R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAGCGCTCATGGTGGGGGCA	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(535-537)CAT>CGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							47.0	47.0	47.0					17																	7578394		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578394T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.2_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.1_Missense_Mutation_p.H140R	p.H179R	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	730	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.536A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	39	0	0	0	0	16	39				
PFAS	5198	broad.mit.edu	37	17	8170154	8170154	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:8170154C>G	ENST00000314666.6	+	23	3038	c.2905C>G	c.(2905-2907)Cgg>Ggg	p.R969G	PFAS_ENST00000545834.1_Missense_Mutation_p.R545G	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	969					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GAAGCGTTACCGGGATGCTGG	0.662																																						uc002gkr.2		NA																	0				ovary(2)|central_nervous_system(2)|pancreas(1)	5						c.(2905-2907)CGG>GGG		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						51.0	45.0	47.0					17																	8170154		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8170154C>G	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2905C>G	17.37:g.8170154C>G	ENSP00000313490:p.Arg969Gly					PFAS_uc010vuv.1_Missense_Mutation_p.R545G|PFAS_uc002gks.2_Missense_Mutation_p.R48G	p.R969G	NM_012393	NP_036525	O15067	PUR4_HUMAN			23	3046	+			969					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.2905C>G	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	C	2.777	-0.254289	0.05829	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.30714	1.52;1.52	5.24	-6.02	0.02192	AIR synthase-related protein, C-terminal (2);	1.554640	0.03298	N	0.188580	T	0.22820	0.0551	L	0.48218	1.51	0.09310	N	0.999999	B;B	0.27166	0.17;0.17	B;B	0.28232	0.087;0.087	T	0.29027	-1.0025	10	0.56958	D	0.05	-0.1427	1.8525	0.03172	0.1898:0.342:0.281:0.1871	.	969;969	A8K8N7;O15067	.;PUR4_HUMAN	G	545;969;378	ENSP00000441706:R545G;ENSP00000313490:R969G	ENSP00000313490:R969G	R	+	1	2	PFAS	8110879	0.000000	0.05858	0.000000	0.03702	0.282000	0.26991	-0.682000	0.05185	-0.814000	0.04352	-2.398000	0.00225	CGG		0.662	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			15	28	0	0	0	0	15	28				
DNAH9	1770	broad.mit.edu	37	17	11648369	11648369	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:11648369A>T	ENST00000262442.4	+	31	6435	c.6367A>T	c.(6367-6369)Aag>Tag	p.K2123*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.K2123*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2123	AAA 2. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGTGGATCTGAAGCTCCAGGC	0.512																																						uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(6367-6369)AAG>TAG		dynein, axonemal, heavy chain 9 isoform 2							118.0	121.0	120.0					17																	11648369		2203	4300	6503	SO:0001587	stop_gained	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11648369A>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6367A>T	17.37:g.11648369A>T	ENSP00000262442:p.Lys2123*					DNAH9_uc010coo.2_Nonsense_Mutation_p.K1417*	p.K2123*	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	31	6435	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2123			AAA 2 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	ENST00000262442.4	37	c.6367A>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	48	14.092548	0.99779	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	.	.	.	5.28	4.18	0.49190	.	0.331689	0.27219	N	0.020367	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1199	0.53885	0.7121:0.2879:0.0:0.0	.	.	.	.	X	2123;2123;705	.	ENSP00000262442:K2123X	K	+	1	0	DNAH9	11589094	1.000000	0.71417	0.991000	0.47740	0.990000	0.78478	4.141000	0.58038	0.819000	0.34492	0.529000	0.55759	AAG		0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		39	73	0	0	0	0	39	73				
GOSR1	9527	broad.mit.edu	37	17	28808253	28808253	+	Missense_Mutation	SNP	A	A	T	rs200418642	byFrequency	TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:28808253A>T	ENST00000225724.5	+	2	196	c.124A>T	c.(124-126)Acc>Tcc	p.T42S	GOSR1_ENST00000451249.2_Missense_Mutation_p.T42S|GOSR1_ENST00000467337.2_5'UTR|GOSR1_ENST00000579905.1_3'UTR|GOSR1_ENST00000581721.1_Missense_Mutation_p.T42S	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	42					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						TCATAGCAGTACCCGAGATGG	0.373																																						uc002hfe.2		NA																	0					0						c.(124-126)ACC>TCC		golgi SNAP receptor complex member 1 isoform 1							110.0	109.0	109.0					17																	28808253		2203	4300	6503	SO:0001583	missense	9527				intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity	g.chr17:28808253A>T	AF047438	CCDS11258.1, CCDS45643.1, CCDS45644.1	17q11	2011-04-15			ENSG00000108587	ENSG00000108587			4430	protein-coding gene	gene with protein product	"""golgi integral membrane protein 2"""	604026				8638159, 9653160, 15004235	Standard	XM_005258072		Approved	GOS28, P28, GS28, GOS-28, GOLIM2	uc002hfe.3	O95249	OTTHUMG00000132796	ENST00000225724.5:c.124A>T	17.37:g.28808253A>T	ENSP00000225724:p.Thr42Ser					GOSR1_uc002hfd.2_Missense_Mutation_p.T42S|GOSR1_uc002hff.2_5'UTR|GOSR1_uc002hfc.1_Missense_Mutation_p.T42S	p.T42S	NM_004871	NP_004862	O95249	GOSR1_HUMAN			2	150	+			42			Cytoplasmic (Potential).		J3KST5|O75392	Missense_Mutation	SNP	ENST00000225724.5	37	c.124A>T	CCDS11258.1	.	.	.	.	.	.	.	.	.	.	A	6.117	0.389894	0.11581	.	.	ENSG00000108587	ENST00000225724;ENST00000451249;ENST00000427274;ENST00000537788	.	.	.	5.83	-4.92	0.03075	.	0.568309	0.20480	N	0.091509	T	0.05593	0.0147	N	0.00879	-1.12	0.21604	N	0.999629	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.01281	0.0;0.0;0.0	T	0.29701	-1.0003	9	0.06757	T	0.87	0.0278	5.1674	0.15092	0.4462:0.0:0.2491:0.3047	.	42;42;42	O95249;E9PCW1;Q96QI9	GOSR1_HUMAN;.;.	S	42	.	ENSP00000225724:T42S	T	+	1	0	GOSR1	25832379	0.153000	0.22777	0.351000	0.25721	0.966000	0.64601	-0.082000	0.11304	-1.109000	0.02996	-0.337000	0.08149	ACC		0.373	GOSR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256208.2			27	47	0	0	0	0	27	47				
RAD51D	5892	broad.mit.edu	37	17	33445520	33445520	+	Splice_Site	SNP	C	C	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:33445520C>A	ENST00000345365.6	-	3	518	c.263G>T	c.(262-264)aGt>aTt	p.S88I	RAD51L3-RFFL_ENST00000593039.1_Intron|RAD51D_ENST00000335858.7_Intron|RAD51D_ENST00000357906.3_Splice_Site_p.R88I|RAD51D_ENST00000460118.2_De_novo_Start_OutOfFrame|RAD51D_ENST00000360276.3_Splice_Site_p.S88I|RAD51D_ENST00000394589.4_Splice_Site_p.S88I|RAD51D_ENST00000590016.1_Intron|RAD51D_ENST00000590380.1_Intron	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	88					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|reciprocal meiotic recombination (GO:0007131)|strand invasion (GO:0042148)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|gamma-tubulin binding (GO:0043015)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ACACACAAACCTGCCAATGCC	0.557								Direct reversal of damage																														uc002hir.2		NA																	0					0						c.(262-264)AGT>ATT	Direct_reversal_of_damage|Homologous_recombination	RAD51-like 3 isoform 1							79.0	82.0	81.0					17																	33445520		2203	4300	6503	SO:0001630	splice_region_variant	5892				DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	g.chr17:33445520C>A	AF034956	CCDS11287.1, CCDS11288.1, CCDS45646.1	17q11	2014-09-17	2013-07-02	2011-07-01	ENSG00000185379	ENSG00000185379			9823	protein-coding gene	gene with protein product	"""recombination repair protein"", ""DNA repair protein RAD51 homolog 4"""	602954	"""RAD51 (S. cerevisiae)-like 3"", ""RAD51-like 3 (S. cerevisiae)"", ""RAD51 homolog D (S. cerevisiae)"""	RAD51L3		9570954	Standard	NM_001142571		Approved	R51H3, Trad, HsTRAD	uc010ctj.2	O75771	OTTHUMG00000132930	ENST00000345365.6:c.263+1G>T	17.37:g.33445520C>A						RFFL_uc002hiq.2_Intron|RAD51L3_uc010wcd.1_Intron|RAD51L3_uc002his.2_Intron|RAD51L3_uc010ctk.2_Translation_Start_Site|RAD51L3_uc010wce.1_5'UTR|RAD51L3_uc002hit.2_Intron|RAD51L3_uc002hiu.2_Intron|RAD51L3_uc010wcf.1_RNA|RAD51L3_uc002hiw.1_RNA|RAD51L3_uc002hiv.1_RNA|RAD51L3_uc010ctl.1_RNA|RAD51L3_uc010ctm.1_RNA	p.S88I	NM_002878	NP_002869	O75771	RA51D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	3	519	-		Ovarian(249;0.17)	88					B4DJU7|E1P637|O43537|O60355|O75196|O75847|O75848|O76073|O76085|O94908|Q9UFU5	Missense_Mutation	SNP	ENST00000345365.6	37	c.263G>T	CCDS11287.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	5.982722|5.982722	0.97173|0.97173	.|.	.|.	ENSG00000185379|ENSG00000185379	ENST00000335858;ENST00000357906|ENST00000345365;ENST00000360276;ENST00000418935;ENST00000415064	T|T;T	0.50813|0.65549	0.73|1.03;-0.16	4.79|4.79	4.79|4.79	0.61399|0.61399	.|DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);DNA recombination and repair protein Rad51, C-terminal (1);	.|0.299640	.|0.45361	.|D	.|0.000370	T|T	0.76499|0.76499	0.3996|0.3996	M|M	0.76170|0.76170	2.325|2.325	0.51233|0.51233	D|D	0.999913|0.999913	.|P	.|0.52463	.|0.953	.|D	.|0.64144	.|0.922	T|T	0.77186|0.77186	-0.2680|-0.2680	6|9	.|.	.|.	.|.	.|.	14.6952|14.6952	0.69115|0.69115	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|88	.|O75771	.|RA51D_HUMAN	I|I	88|88;88;88;91	ENSP00000350581:R88I|ENSP00000338790:S88I;ENSP00000353417:S88I	.|.	R|S	-|-	2|2	0|0	RAD51D|RAD51D	30469633|30469633	1.000000|1.000000	0.71417|0.71417	0.741000|0.741000	0.31004|0.31004	0.980000|0.980000	0.70556|0.70556	6.232000|6.232000	0.72313|0.72313	2.499000|2.499000	0.84300|0.84300	0.555000|0.555000	0.69702|0.69702	AGA|AGT		0.557	RAD51D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256446.1	NM_002878	Missense_Mutation	13	93	1	0	6.72e-11	7.77e-11	13	93				
SLC35G3	146861	broad.mit.edu	37	17	33521249	33521249	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:33521249G>A	ENST00000297307.5	-	1	163	c.78C>T	c.(76-78)cgC>cgT	p.R26R	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	26						integral component of membrane (GO:0016021)											GCTGGTACCAGCGGAGGCTGG	0.652																																						uc002hjd.2		NA																	0					0						c.(76-78)CGC>CGT		acyl-malonyl condensing enzyme 1							54.0	57.0	56.0					17																	33521249		2203	4299	6502	SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33521249G>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.78C>T	17.37:g.33521249G>A							p.R26R	NM_152462	NP_689675	Q8N808	AMAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	1	164	-			26					B9EGE9	Silent	SNP	ENST00000297307.5	37	c.78C>T	CCDS11293.1																																																																																				0.652	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		33	41	0	0	0	0	33	41				
RPL23	9349	broad.mit.edu	37	17	37008939	37008939	+	Silent	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:37008939C>T	ENST00000479035.2	-	3	276	c.144G>A	c.(142-144)cgG>cgA	p.R48R	RPL23_ENST00000394333.1_Silent_p.R48R|RPL23_ENST00000245857.5_5'UTR|SNORA21_ENST00000362423.1_RNA|RPL23_ENST00000394332.1_Silent_p.R48R|RPL23_ENST00000577407.1_Silent_p.R48R|SNORA21_ENST00000516890.1_RNA	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN	ribosomal protein L23	48					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal protein import into nucleus (GO:0006610)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)	3						GTCTGTTCAGCCGTCCCTTGA	0.473																																						uc002hqx.1		NA																	0					0						c.(142-144)CGG>CGA		ribosomal protein L23							91.0	82.0	85.0					17																	37008939		2203	4300	6503	SO:0001819	synonymous_variant	9349				endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome	g.chr17:37008939C>T	X52839	CCDS11330.1	17q12	2011-04-06			ENSG00000125691	ENSG00000125691		"""L ribosomal proteins"""	10316	protein-coding gene	gene with protein product		603662				1861993	Standard	NM_000978		Approved	rpL17, L23	uc002hqx.1	P62829	OTTHUMG00000133118	ENST00000479035.2:c.144G>A	17.37:g.37008939C>T						RPL23_uc002hqw.1_5'UTR|RPL23_uc002hqy.1_Silent_p.R48R	p.R48R	NM_000978	NP_000969	P62829	RL23_HUMAN			3	234	-			48					P23131|P24048|Q29246|Q3SWV7|Q6P5S1	Silent	SNP	ENST00000479035.2	37	c.144G>A	CCDS11330.1																																																																																				0.473	RPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256785.3	NM_000978		38	49	0	0	0	0	38	49				
HEXIM1	10614	broad.mit.edu	37	17	43227082	43227082	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:43227082G>A	ENST00000332499.2	+	1	2399	c.525G>A	c.(523-525)aaG>aaA	p.K175K	AC002117.1_ENST00000452741.1_RNA|AC002117.1_ENST00000589950.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	175	Basic region; mediates nuclear localization and interaction with 7SK snRNA and NR3C1.				heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGGAAGAGAAGAAAAAGTTCG	0.547											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002iig.2		NA																	0				ovary(1)	1						c.(523-525)AAG>AAA		hexamethylene bis-acetamide inducible 1							77.0	86.0	83.0					17																	43227082		2203	4300	6503	SO:0001819	synonymous_variant	10614				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43227082G>A	AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.525G>A	17.37:g.43227082G>A			OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	914		p.K175K	NM_006460	NP_006451	O94992	HEXI1_HUMAN			1	2399	+			175			Basic region; mediates nuclear localization and interaction with 7SK snRNA and NR3C1.		B2R8Y5	Silent	SNP	ENST00000332499.2	37	c.525G>A	CCDS11495.1																																																																																				0.547	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2	NM_006460		32	63	0	0	0	0	32	63				
SNX11	29916	broad.mit.edu	37	17	46196402	46196402	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr17:46196402G>A	ENST00000393405.2	+	7	747	c.393G>A	c.(391-393)tcG>tcA	p.S131S	SNX11_ENST00000452859.2_De_novo_Start_InFrame|SNX11_ENST00000359238.2_Silent_p.S131S|SNX11_ENST00000439357.2_Silent_p.S70S|SNX11_ENST00000580219.1_Silent_p.S123S|SNX11_ENST00000582104.1_Silent_p.S123S	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	131	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|vesicle organization (GO:0016050)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol phosphate binding (GO:1901981)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						GCCAGCTCTCGGTGCCTGAGA	0.532																																						uc002inf.1		NA																	0					0						c.(391-393)TCG>TCA		sorting nexin 11							150.0	120.0	130.0					17																	46196402		2203	4300	6503	SO:0001819	synonymous_variant	29916				cell communication|protein transport	membrane	phosphatidylinositol binding	g.chr17:46196402G>A	AF121861	CCDS11526.1	17q21.32	2011-05-03			ENSG00000002919	ENSG00000002919		"""Sorting nexins"""	14975	protein-coding gene	gene with protein product		614906					Standard	NM_013323		Approved		uc002ing.1	Q9Y5W9		ENST00000393405.2:c.393G>A	17.37:g.46196402G>A						SNX11_uc010wlg.1_Silent_p.S123S|SNX11_uc010wlh.1_Silent_p.S123S|SNX11_uc010wli.1_Silent_p.S70S|SNX11_uc010wlj.1_5'UTR|SNX11_uc002ing.1_Silent_p.S131S|SNX11_uc002inh.1_Silent_p.S131S	p.S131S	NM_152244	NP_689450	Q9Y5W9	SNX11_HUMAN			7	747	+			131			PX.		B3KRL6|B4DPY5|D3DTV0|Q53YC0|Q9H885	Silent	SNP	ENST00000393405.2	37	c.393G>A	CCDS11526.1																																																																																				0.532	SNX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443423.1			15	116	0	0	0	0	15	116				
SLC39A6	25800	broad.mit.edu	37	18	33706965	33706965	+	Silent	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr18:33706965C>T	ENST00000590986.1	-	2	295	c.6G>A	c.(4-6)gcG>gcA	p.A2A	ELP2_ENST00000351393.6_5'Flank|ELP2_ENST00000542824.1_5'Flank|SLC39A6_ENST00000440549.2_Intron|ELP2_ENST00000350494.6_5'Flank|ELP2_ENST00000442325.2_5'Flank|ELP2_ENST00000358232.6_5'Flank|SLC39A6_ENST00000269187.5_Silent_p.A2A|ELP2_ENST00000423854.2_5'Flank			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	2					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.A2A(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						ATAACTTCCTCGCCATTGCGC	0.383																																						uc010dmy.2		NA																	1	Substitution - coding silent(1)		breast(1)	ovary(1)|pancreas(1)	2						c.(4-6)GCG>GCA		solute carrier family 39 (zinc transporter),							61.0	58.0	59.0					18																	33706965		1849	4091	5940	SO:0001819	synonymous_variant	25800					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	g.chr18:33706965C>T	U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.6G>A	18.37:g.33706965C>T						SLC39A6_uc002kzj.2_Intron|ELP2_uc002kzk.1_5'Flank|ELP2_uc010xcg.1_5'Flank|ELP2_uc002kzl.1_5'Flank|ELP2_uc002kzm.1_5'Flank|ELP2_uc010xch.1_5'Flank|ELP2_uc002kzn.1_5'Flank|ELP2_uc002kzo.1_5'Flank	p.A2A	NM_012319	NP_036451	Q13433	S39A6_HUMAN			2	296	-			2					B4DR49|B4E224|Q8IXR3|Q96HP5	Silent	SNP	ENST00000590986.1	37	c.6G>A	CCDS42428.1																																																																																				0.383	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1			21	44	0	0	0	0	21	44				
RDH8	50700	broad.mit.edu	37	19	10127887	10127887	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:10127887G>A	ENST00000171214.1	+	2	507	c.258G>A	c.(256-258)gtG>gtA	p.V86V	RDH8_ENST00000591589.1_Silent_p.V106V	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	86					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	AAGTGGACGTGCTGGGTGAGA	0.587																																						uc002mmr.2		NA																	0				ovary(3)|pancreas(1)	4						c.(256-258)GTG>GTA		retinol dehydrogenase 8 (all-trans)	Vitamin A(DB00162)						72.0	64.0	67.0					19																	10127887		2203	4300	6503	SO:0001819	synonymous_variant	50700				estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr19:10127887G>A	AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	14423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 28C, member 2"""	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.258G>A	19.37:g.10127887G>A							p.V86V	NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)		2	507	+			86			Helical; (Potential).		Q9H838	Silent	SNP	ENST00000171214.1	37	c.258G>A																																																																																					0.587	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				7	13	0	0	0	0	7	13				
ZNF440	126070	broad.mit.edu	37	19	11942884	11942884	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:11942884A>G	ENST00000304060.5	+	4	1057	c.893A>G	c.(892-894)tAt>tGt	p.Y298C		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	298					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(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGTCCCCGTTATGTTCGTATA	0.398																																						uc002msp.1		NA																	0					0						c.(892-894)TAT>TGT		zinc finger protein 440							101.0	101.0	101.0					19																	11942884		2201	4300	6501	SO:0001583	missense	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11942884A>G	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.893A>G	19.37:g.11942884A>G	ENSP00000305373:p.Tyr298Cys						p.Y298C	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN			4	1049	+			298			C2H2-type 6.		Q8N1R9	Missense_Mutation	SNP	ENST00000304060.5	37	c.893A>G	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	a	8.358	0.832518	0.16820	.	.	ENSG00000171295	ENST00000304060	T	0.15372	2.43	1.04	-2.08	0.07254	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17023	0.0409	N	0.21583	0.68	0.09310	N	1	D	0.55800	0.973	P	0.59115	0.852	T	0.11842	-1.0571	9	0.42905	T	0.14	.	3.8872	0.09103	0.4062:0.4399:0.1539:0.0	.	298	Q8IYI8	ZN440_HUMAN	C	298	ENSP00000305373:Y298C	ENSP00000305373:Y298C	Y	+	2	0	ZNF440	11803884	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.279000	0.08479	-1.055000	0.03209	-1.231000	0.01572	TAT		0.398	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		21	60	0	0	0	0	21	60				
URI1	8725	broad.mit.edu	37	19	30496290	30496290	+	Silent	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:30496290C>T	ENST00000542441.2	+	5	687	c.390C>T	c.(388-390)gaC>gaT	p.D130D	URI1_ENST00000392271.1_Silent_p.D54D|URI1_ENST00000574176.1_3'UTR|URI1_ENST00000312051.6_Silent_p.D90D|URI1_ENST00000360605.4_Silent_p.D112D			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	130					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										CAATAGATGACTTAAAAAAAG	0.299																																						uc002nsr.2		NA																	0				ovary(1)|kidney(1)	2						c.(388-390)GAC>GAT		RPB5-mediating protein isoform a							47.0	50.0	49.0					19																	30496290		2203	4283	6486	SO:0001819	synonymous_variant	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30496290C>T	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.390C>T	19.37:g.30496290C>T						C19orf2_uc002nsq.2_Silent_p.D112D|C19orf2_uc002nss.2_Silent_p.D90D|C19orf2_uc002nst.2_Silent_p.D54D	p.D130D	NM_003796	NP_003787	O94763	RMP_HUMAN	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)	5	420	+	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	130					A8K805|H7BY42|Q8TC23|Q9UNU3	Silent	SNP	ENST00000542441.2	37	c.390C>T	CCDS12420.1																																																																																				0.299	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		5	16	0	0	0	0	5	16				
ZNF585A	199704	broad.mit.edu	37	19	37643886	37643886	+	Silent	SNP	T	T	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:37643886T>C	ENST00000356958.4	-	5	1173	c.915A>G	c.(913-915)aaA>aaG	p.K305K	ZNF585A_ENST00000392157.2_Silent_p.K250K|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Silent_p.K250K|ZNF585A_ENST00000292841.5_Silent_p.K250K			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAATGAAGGATTTGCCACAGT	0.418																																						uc002ofo.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(913-915)AAA>AAG		zinc finger protein 585A							262.0	237.0	245.0					19																	37643886		2203	4300	6503	SO:0001819	synonymous_variant	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37643886T>C	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.915A>G	19.37:g.37643886T>C						ZNF585A_uc002ofm.1_Silent_p.K250K|ZNF585A_uc002ofn.1_Silent_p.K250K	p.K305K	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1146	-			305			C2H2-type 6.		Q8TE95|Q96MV3	Silent	SNP	ENST00000356958.4	37	c.915A>G																																																																																					0.418	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		92	142	0	0	0	0	92	142				
ZNF569	148266	broad.mit.edu	37	19	37903627	37903627	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:37903627G>C	ENST00000316950.6	-	6	2490	c.1933C>G	c.(1933-1935)Caa>Gaa	p.Q645E	ZNF569_ENST00000392150.2_Missense_Mutation_p.Q486E|ZNF569_ENST00000392149.2_Missense_Mutation_p.Q645E	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	645					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(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATGAGATTTGAGAGAAGGCT	0.433																																						uc002ogi.2		NA																	0				breast(2)|skin(1)	3						c.(1933-1935)CAA>GAA		zinc finger protein 569							125.0	125.0	125.0					19																	37903627		2203	4300	6503	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37903627G>C	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1933C>G	19.37:g.37903627G>C	ENSP00000325018:p.Gln645Glu					ZNF569_uc002ogh.2_Missense_Mutation_p.Q486E|ZNF569_uc002ogj.2_Missense_Mutation_p.Q669E	p.Q645E	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	2491	-			645			C2H2-type 17.		A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.1933C>G	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879002	0.33162	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	T;T	0.28895	1.59;2.38	4.09	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32106	N	0.006564	T	0.16128	0.0388	N	0.17872	0.535	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.12837	0.008;0.008	T	0.12630	-1.0540	10	0.36615	T	0.2	.	5.816	0.18492	0.1944:0.1639:0.6417:0.0	.	486;645	Q17RR6;Q5MCW4	.;ZN569_HUMAN	E	645;301;486	ENSP00000325018:Q645E;ENSP00000375993:Q486E	ENSP00000325018:Q645E	Q	-	1	0	ZNF569	42595467	0.000000	0.05858	0.765000	0.31456	0.997000	0.91878	0.530000	0.23036	1.053000	0.40415	0.563000	0.77884	CAA		0.433	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		7	115	0	0	0	0	7	115				
IFNL3	282617	broad.mit.edu	37	19	39735130	39735130	+	Missense_Mutation	SNP	T	T	A	rs199677823		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:39735130T>A	ENST00000413851.2	-	2	223	c.185A>T	c.(184-186)gAg>gTg	p.E62V	IFNL4_ENST00000606380.1_RNA	NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	62					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											CAGAAGCGACTCTTCCTAGAC	0.617																																						uc010xut.1		NA																	0					0						c.(184-186)GAG>GTG		interleukin 28B							24.0	32.0	29.0					19																	39735130		2201	4298	6499	SO:0001583	missense	282617				response to virus	extracellular space	cytokine activity	g.chr19:39735130T>A	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"""Interferons"""	18365	protein-coding gene	gene with protein product		607402	"""interleukin 28B"", ""interleukin 28B (interferon, lambda 3)"""	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.185A>T	19.37:g.39735130T>A	ENSP00000409000:p.Glu62Val					IL28B_uc010xuu.1_Missense_Mutation_p.E62V	p.E62V	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		2	189	-	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		62					A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	c.185A>T	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.841941	0.51057	.	.	ENSG00000197110	ENST00000413851	T	0.37058	1.22	3.01	3.01	0.34805	.	0.775606	0.11634	N	0.544460	T	0.55625	0.1932	M	0.81239	2.535	0.09310	N	1	D	0.59357	0.985	P	0.61201	0.885	T	0.41270	-0.9518	10	0.87932	D	0	-10.0409	7.6568	0.28379	0.0:0.0:0.0:1.0	.	62	Q8IZI9	IL28B_HUMAN	V	62	ENSP00000409000:E62V	ENSP00000409000:E62V	E	-	2	0	IL28B	44426970	0.007000	0.16637	0.052000	0.19188	0.307000	0.27823	1.388000	0.34442	1.388000	0.46506	0.172000	0.16884	GAG		0.617	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139		3	12	0	0	0	0	3	12				
MAP3K10	4294	broad.mit.edu	37	19	40698536	40698536	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:40698536G>A	ENST00000253055.3	+	1	886	c.598G>A	c.(598-600)Gct>Act	p.A200T	MAP3K10_ENST00000593906.1_Intron	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	200	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGTCAACTGGGCTGTGCAGGT	0.622																																						uc002ona.2		NA																	0				ovary(2)|lung(2)|skin(1)|pancreas(1)	6						c.(598-600)GCT>ACT		mitogen-activated protein kinase kinase kinase							48.0	42.0	44.0					19																	40698536		2203	4300	6503	SO:0001583	missense	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40698536G>A	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.598G>A	19.37:g.40698536G>A	ENSP00000253055:p.Ala200Thr						p.A200T	NM_002446	NP_002437	Q02779	M3K10_HUMAN			1	886	+			200			Protein kinase.		Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	c.598G>A	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	G	32	5.179497	0.94846	.	.	ENSG00000130758	ENST00000253055	D	0.94376	-3.41	4.93	4.93	0.64822	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95191	0.8441	L	0.46741	1.465	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95477	0.8557	10	0.72032	D	0.01	.	15.6819	0.77376	0.0:0.0:1.0:0.0	.	200	Q02779	M3K10_HUMAN	T	200	ENSP00000253055:A200T	ENSP00000253055:A200T	A	+	1	0	MAP3K10	45390376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.646000	0.98474	2.565000	0.86533	0.561000	0.74099	GCT		0.622	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		14	15	0	0	0	0	14	15				
ADCK4	79934	broad.mit.edu	37	19	41198104	41198105	+	Nonsense_Mutation	DNP	TG	TG	AA			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:41198104_41198105TG>AA	ENST00000324464.3	-	15	1771_1772	c.1470_1471CA>TT	c.(1468-1473)cgCAag>cgTTag	p.K491*	NUMBL_ENST00000252891.4_5'Flank|ADCK4_ENST00000243583.6_Nonsense_Mutation_p.K450*|NUMBL_ENST00000598779.1_5'Flank|NUMBL_ENST00000599594.1_5'Flank|ADCK4_ENST00000450541.1_Nonsense_Mutation_p.K450*|NUMBL_ENST00000540131.1_5'Flank	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	491						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CCTGCCAGCTTGCGGTGCAGGG	0.683																																						uc002oor.2		NA																	0					0						c.(1468-1473)CGCAAG>CGTTAG		aarF domain containing kinase 4 isoform a																																				SO:0001587	stop_gained	79934					integral to membrane	protein serine/threonine kinase activity	g.chr19:41198104_41198105TG>AA	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.1470_1471delinsAA	19.37:g.41198104_41198105delinsAA	ENSP00000315118:p.Lys491*					NUMBL_uc010xvq.1_5'Flank|NUMBL_uc002oon.2_5'Flank|NUMBL_uc002ooo.2_5'Flank|NUMBL_uc010xvr.1_5'Flank|ADCK4_uc002oop.1_Nonsense_Mutation_p.K168*|ADCK4_uc002ooq.1_Nonsense_Mutation_p.K450*	p.K491*	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		15	1772_1773	-			491					Q8TAJ1|Q9HA52	Nonsense_Mutation	DNP	ENST00000324464.3	37	c.1470_1471CA>TT	CCDS12562.1																																																																																				0.683	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		5	8	0	0	0	0	5	8				
DEDD2	162989	broad.mit.edu	37	19	42720875	42720875	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:42720875G>A	ENST00000595337.1	-	2	372	c.285C>T	c.(283-285)cgC>cgT	p.R95R	DEDD2_ENST00000598727.1_Silent_p.R95R|DEDD2_ENST00000336034.4_Silent_p.R95R|DEDD2_ENST00000593804.1_Intron|DEDD2_ENST00000596251.1_Silent_p.R95R	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	95	DED. {ECO:0000255|PROSITE- ProRule:PRU00065}.				apoptotic nuclear changes (GO:0030262)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|RNA processing (GO:0006396)|rRNA catabolic process (GO:0016075)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				GCAGGTCGTGGCGGGCCAGCA	0.716																																						uc002osu.1		NA																	0					0						c.(283-285)CGC>CGT		death effector domain-containing  DNA binding							5.0	6.0	6.0					19																	42720875		1767	3632	5399	SO:0001819	synonymous_variant	162989				activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity	g.chr19:42720875G>A	AY125488	CCDS12597.1, CCDS59391.1	19q13.31	2008-02-05				ENSG00000160570			24450	protein-coding gene	gene with protein product						11965497, 12235123	Standard	NM_133328		Approved	FLAME-3	uc031rkv.1	Q8WXF8		ENST00000595337.1:c.285C>T	19.37:g.42720875G>A						DEDD2_uc002osv.1_Intron|DEDD2_uc002osw.1_Silent_p.R95R|DEDD2_uc002osx.1_Intron|DEDD2_uc002osy.1_Silent_p.R95R	p.R95R	NM_133328	NP_579874	Q8WXF8	DEDD2_HUMAN			2	353	-		Prostate(69;0.0704)	95			DED.		Q8NBR2|Q8NES1|Q8TAA8|Q96D35	Silent	SNP	ENST00000595337.1	37	c.285C>T	CCDS12597.1																																																																																				0.716	DEDD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463508.1	NM_133328		10	11	0	0	0	0	10	11				
NAPA	8775	broad.mit.edu	37	19	47996260	47996260	+	Silent	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:47996260C>T	ENST00000263354.3	-	7	818	c.519G>A	c.(517-519)gcG>gcA	p.A173A	NAPA-AS1_ENST00000593284.1_RNA|NAPA_ENST00000593785.1_5'Flank|NAPA_ENST00000595227.1_Silent_p.A134A|NAPA-AS1_ENST00000594367.1_RNA	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	173					apical protein localization (GO:0045176)|brain development (GO:0007420)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron differentiation (GO:0030182)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		GCTCCAGCAGCGCAGCGTAAC	0.642																																					Ovarian(185;1135 2042 27703 31345 42493)	uc002pha.1		NA																	0					0						c.(517-519)GCG>GCA		N-ethylmaleimide-sensitive factor attachment							120.0	108.0	112.0					19																	47996260		2203	4300	6503	SO:0001819	synonymous_variant	8775				cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol		g.chr19:47996260C>T	U39412	CCDS12702.1	19q13.33	2012-08-16			ENSG00000105402	ENSG00000105402			7641	protein-coding gene	gene with protein product	"""alpha SNAP"""	603215				9269766	Standard	NM_003827		Approved		uc002pha.2	P54920		ENST00000263354.3:c.519G>A	19.37:g.47996260C>T						uc002pgz.1_Intron|NAPA_uc002phb.1_Silent_p.A134A|NAPA_uc002phc.1_Silent_p.A60A|NAPA_uc002phd.1_Silent_p.A173A|NAPA_uc010elf.1_Silent_p.A67A	p.A173A	NM_003827	NP_003818	P54920	SNAA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)	7	819	-		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	173					A8K879|Q96IK3|Q9BVJ3	Silent	SNP	ENST00000263354.3	37	c.519G>A	CCDS12702.1																																																																																				0.642	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466048.2	NM_003827		7	87	0	0	0	0	7	87				
SIGLEC9	27180	broad.mit.edu	37	19	51628589	51628589	+	Missense_Mutation	SNP	C	C	T	rs147625837	byFrequency	TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:51628589C>T	ENST00000250360.3	+	1	425	c.358C>T	c.(358-360)Cgt>Tgt	p.R120C	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.R120C	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	120	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ATACTTCTTTCGTATGGAGAA	0.498																																						uc002pvu.2		NA																	0				skin(1)	1						c.(358-360)CGT>TGT		sialic acid binding Ig-like lectin 9 precursor		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	76.0	73.0	74.0		358,358	-5.4	0.0	19	dbSNP_134	74	1,8599		0,1,4299	no	missense,missense	SIGLEC9	NM_001198558.1,NM_014441.2	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	120/480,120/464	51628589	1,13005	2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51628589C>T	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.358C>T	19.37:g.51628589C>T	ENSP00000250360:p.Arg120Cys					SIGLEC9_uc010yct.1_Missense_Mutation_p.R120C	p.R120C	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	1	425	+		all_neural(266;0.0529)	120	R->K: Loss of sialic acid binding.		Extracellular (Potential).|Ig-like V-type.	Sialic acid (By similarity).	Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.358C>T	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	13.39	2.223804	0.39300	0.0	1.16E-4	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.66638	-0.22;-0.22	3.03	-5.36	0.02689	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.042900	0.07698	N	0.939906	T	0.79890	0.4524	M	0.92122	3.275	0.09310	N	0.999996	D	0.89917	1.0	D	0.69142	0.962	T	0.71217	-0.4658	10	0.87932	D	0	.	3.4103	0.07356	0.4947:0.2722:0.0:0.2331	.	120	Q9Y336	SIGL9_HUMAN	C	120	ENSP00000413861:R120C;ENSP00000250360:R120C	ENSP00000250360:R120C	R	+	1	0	SIGLEC9	56320401	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-2.305000	0.01133	-0.726000	0.04895	0.514000	0.50259	CGT		0.498	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		24	64	0	0	0	0	24	64				
ZNF530	348327	broad.mit.edu	37	19	58117075	58117075	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr19:58117075A>G	ENST00000332854.6	+	3	402	c.182A>G	c.(181-183)gAt>gGt	p.D61G	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	61	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGAGCAGTAGATGAGGGGACG	0.463																																						uc002qpk.2		NA																	0					0						c.(181-183)GAT>GGT		zinc finger protein 530							62.0	64.0	63.0					19																	58117075		2203	4300	6503	SO:0001583	missense	348327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58117075A>G	AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.182A>G	19.37:g.58117075A>G	ENSP00000332861:p.Asp61Gly					ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA	p.D61G	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	402	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)	61			KRAB.		O43340|Q9P220	Missense_Mutation	SNP	ENST00000332854.6	37	c.182A>G	CCDS12955.1	.	.	.	.	.	.	.	.	.	.	A	10.14	1.268199	0.23136	.	.	ENSG00000183647	ENST00000332854	T	0.06768	3.26	2.33	-0.0421	0.13865	Krueppel-associated box (3);	.	.	.	.	T	0.08358	0.0208	L	0.49571	1.57	0.09310	N	1	B	0.21606	0.058	B	0.24006	0.05	T	0.38499	-0.9658	9	0.25751	T	0.34	.	8.5419	0.33397	0.352:0.648:0.0:0.0	.	61	Q6P9A1	ZN530_HUMAN	G	61	ENSP00000332861:D61G	ENSP00000332861:D61G	D	+	2	0	ZNF530	62808887	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.310000	0.08135	-0.076000	0.12775	-0.387000	0.06579	GAT		0.463	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880		33	54	0	0	0	0	33	54				
OTOF	9381	broad.mit.edu	37	2	26700047	26700047	+	Missense_Mutation	SNP	G	G	A	rs201246660	byFrequency	TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:26700047G>A	ENST00000272371.2	-	21	2642	c.2516C>T	c.(2515-2517)gCg>gTg	p.A839V	OTOF_ENST00000338581.6_Missense_Mutation_p.A92V|OTOF_ENST00000403946.3_Missense_Mutation_p.A839V|OTOF_ENST00000402415.3_Missense_Mutation_p.A149V|OTOF_ENST00000339598.3_Missense_Mutation_p.A92V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	839					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTCGTCCGCCAGGAAGCG	0.682													G|||	2	0.000399361	0.0015	0.0	5008	,	,		11509	0.0		0.0	False		,,,				2504	0.0				GBM(102;732 1451 20652 24062 31372)	uc002rhk.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(2515-2517)GCG>GTG		otoferlin isoform a							24.0	28.0	26.0					2																	26700047		2184	4292	6476	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26700047G>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2516C>T	2.37:g.26700047G>A	ENSP00000272371:p.Ala839Val					OTOF_uc002rhh.2_Missense_Mutation_p.A92V|OTOF_uc002rhi.2_Missense_Mutation_p.A149V|OTOF_uc002rhj.2_Missense_Mutation_p.A92V	p.A839V	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			21	2643	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		839			Cytoplasmic (Potential).		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.2516C>T	CCDS1725.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.60	1.987896	0.35036	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.80824	-1.17;-1.17;-1.14;-1.42;-1.42	5.0	5.0	0.66597	.	0.047637	0.85682	D	0.000000	T	0.69415	0.3108	L	0.38733	1.17	0.80722	D	1	P;B;P;B	0.42161	0.772;0.28;0.769;0.141	B;B;B;B	0.32022	0.078;0.084;0.139;0.056	T	0.69928	-0.5012	10	0.23891	T	0.37	-8.264	16.8705	0.86039	0.0:0.0:1.0:0.0	.	839;92;149;92	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	V	92;92;149;839;839	ENSP00000345137:A92V;ENSP00000344521:A92V;ENSP00000383906:A149V;ENSP00000272371:A839V;ENSP00000385255:A839V	ENSP00000272371:A839V	A	-	2	0	OTOF	26553551	1.000000	0.71417	0.952000	0.39060	0.340000	0.28889	6.392000	0.73213	2.318000	0.78349	0.511000	0.50034	GCG		0.682	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			3	18	0	0	0	0	3	18				
QPCT	25797	broad.mit.edu	37	2	37586939	37586939	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:37586939G>A	ENST00000338415.3	+	3	642	c.484G>A	c.(484-486)Gtg>Atg	p.V162M	QPCT_ENST00000537448.1_Missense_Mutation_p.V113M	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	162					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				TGATTCAGCCGTGCCATGTGC	0.443																																						uc002rqg.2		NA																	0				central_nervous_system(1)	1						c.(484-486)GTG>ATG		glutaminyl-peptide cyclotransferase precursor							158.0	150.0	152.0					2																	37586939		2203	4300	6503	SO:0001583	missense	25797				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding	g.chr2:37586939G>A	X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"""glutaminyl cyclase"""	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.484G>A	2.37:g.37586939G>A	ENSP00000344829:p.Val162Met					QPCT_uc002rqh.2_Missense_Mutation_p.V113M	p.V162M	NM_012413	NP_036545	Q16769	QPCT_HUMAN			3	606	+		Ovarian(717;0.051)|all_hematologic(82;0.21)	162					Q16770|Q3KRG6|Q53TR4	Missense_Mutation	SNP	ENST00000338415.3	37	c.484G>A	CCDS1790.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.499286	0.85069	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448	T;T;T	0.22743	1.94;1.94;1.94	5.53	5.53	0.82687	Peptidase M28 (1);	0.000000	0.85682	D	0.000000	T	0.55146	0.1902	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62305	-0.6882	10	0.87932	D	0	-0.1405	19.4608	0.94916	0.0:0.0:1.0:0.0	.	113;162	Q16769-2;Q16769	.;QPCT_HUMAN	M	162;113;113	ENSP00000344829:V162M;ENSP00000385391:V113M;ENSP00000441606:V113M	ENSP00000344829:V162M	V	+	1	0	QPCT	37440443	1.000000	0.71417	0.979000	0.43373	0.882000	0.50991	9.675000	0.98638	2.587000	0.87381	0.655000	0.94253	GTG		0.443	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2			39	96	0	0	0	0	39	96				
BCL11A	53335	broad.mit.edu	37	2	60688292	60688292	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:60688292G>C	ENST00000335712.6	-	4	1982	c.1755C>G	c.(1753-1755)tgC>tgG	p.C585W	BCL11A_ENST00000356842.4_Missense_Mutation_p.C585W|BCL11A_ENST00000538214.1_Missense_Mutation_p.C551W|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Missense_Mutation_p.C254W|BCL11A_ENST00000358510.4_Missense_Mutation_p.C551W	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	585					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AGTCTTCGTCGCAAGTGTCCC	0.682			T	IGH@	B-CLL																																	uc002sae.1		NA		Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(1753-1755)TGC>TGG		B-cell CLL/lymphoma 11A isoform 1							23.0	26.0	25.0					2																	60688292		2191	4275	6466	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688292G>C	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1755C>G	2.37:g.60688292G>C	ENSP00000338774:p.Cys585Trp					BCL11A_uc002sab.2_Missense_Mutation_p.C585W|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.C254W|BCL11A_uc010ypj.1_Missense_Mutation_p.C551W|BCL11A_uc002sad.1_Missense_Mutation_p.C433W|BCL11A_uc002saf.1_Missense_Mutation_p.C551W	p.C585W	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1983	-			585					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1755C>G	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	G	7.086	0.571206	0.13623	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.08546	3.08;3.37;3.25;3.38;3.31	6.01	3.25	0.37280	.	0.101956	0.56097	D	0.000024	T	0.14527	0.0351	N	0.22421	0.69	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.999;0.999;0.99;0.999	D;D;D;P;D	0.68621	0.919;0.91;0.959;0.873;0.914	T	0.01298	-1.1392	10	0.87932	D	0	-2.8599	10.977	0.47472	0.3069:0.0:0.6931:0.0	.	551;254;551;585;585	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	W	585;610;551;254;585;551	ENSP00000349300:C585W;ENSP00000438303:C551W;ENSP00000443712:C254W;ENSP00000338774:C585W;ENSP00000351307:C551W	ENSP00000338774:C585W	C	-	3	2	BCL11A	60541796	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	0.385000	0.20685	0.430000	0.26230	-0.143000	0.13931	TGC		0.682	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		12	30	0	0	0	0	12	30				
MTHFD2	10797	broad.mit.edu	37	2	74441326	74441326	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:74441326G>A	ENST00000394053.2	+	8	1090	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q	SLC4A5_ENST00000483195.1_5'Flank|MTHFD2_ENST00000394050.3_Missense_Mutation_p.R173Q|MTHFD2_ENST00000409804.1_Missense_Mutation_p.R209Q|RP11-287D1.3_ENST00000451608.2_Intron|MTHFD2_ENST00000264090.4_Missense_Mutation_p.R235Q|MTHFD2_ENST00000409601.1_Missense_Mutation_p.R254Q	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	337					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	CTTGAAGAGCGAGAAGTGCTG	0.468																																						uc002skk.2		NA																	0					0						c.(1009-1011)CGA>CAA		methylenetetrahydrofolate dehydrogenase 2	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						100.0	104.0	103.0					2																	74441326		1971	4154	6125	SO:0001583	missense	10797				folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding	g.chr2:74441326G>A	X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.1010G>A	2.37:g.74441326G>A	ENSP00000377617:p.Arg337Gln					SLC4A5_uc002skl.2_Intron|MTHFD2_uc002skj.2_Missense_Mutation_p.R235Q|MTHFD2_uc010yro.1_Missense_Mutation_p.R235Q|MTHFD2_uc010ffb.2_Missense_Mutation_p.R254Q|MTHFD2_uc010yrp.1_Missense_Mutation_p.R173Q	p.R337Q	NM_006636	NP_006627	P13995	MTDC_HUMAN			8	1089	+			337					Q53G90|Q53GV5|Q53S36|Q7Z650	Missense_Mutation	SNP	ENST00000394053.2	37	c.1010G>A	CCDS1935.2	.	.	.	.	.	.	.	.	.	.	G	11.51	1.661100	0.29515	.	.	ENSG00000065911	ENST00000394053;ENST00000409804;ENST00000264090;ENST00000394050;ENST00000409601	T;T;T;T;T	0.42513	1.96;0.97;1.96;1.55;1.99	5.58	-2.56	0.06268	.	1.327270	0.04545	N	0.388865	T	0.20536	0.0494	N	0.14661	0.345	0.09310	N	1	B;B	0.13594	0.008;0.001	B;B	0.04013	0.001;0.001	T	0.09378	-1.0677	10	0.23891	T	0.37	.	0.9042	0.01281	0.2505:0.109:0.2328:0.4077	.	254;337	B8ZZU9;P13995	.;MTDC_HUMAN	Q	337;209;235;173;254	ENSP00000377617:R337Q;ENSP00000386536:R209Q;ENSP00000264090:R235Q;ENSP00000377614:R173Q;ENSP00000386542:R254Q	ENSP00000264090:R235Q	R	+	2	0	MTHFD2	74294834	0.032000	0.19561	0.738000	0.30950	0.924000	0.55760	-0.080000	0.11339	-0.307000	0.08804	0.655000	0.94253	CGA		0.468	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252045.2			35	64	0	0	0	0	35	64				
CHN1	1123	broad.mit.edu	37	2	175779816	175779816	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:175779816C>T	ENST00000409900.3	-	5	543	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	CHN1_ENST00000409156.3_Missense_Mutation_p.R77Q|CHN1_ENST00000488080.1_5'UTR	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	77	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			CCCTGGCTGCCGCTGGCTCTC	0.463			T	TAF15	extraskeletal myxoid chondrosarcoma																																	uc002uji.2		NA		Dom	yes		2	2q31-q32.1	1123	T	chimerin (chimaerin) 1			M	TAF15		extraskeletal myxoid chondrosarcoma		0				ovary(2)|skin(1)	3						c.(229-231)CGG>CAG		chimerin (chimaerin) 1 isoform a							32.0	34.0	33.0					2																	175779816		1903	4116	6019	SO:0001583	missense	1123				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr2:175779816C>T		CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.230G>A	2.37:g.175779816C>T	ENSP00000386741:p.Arg77Gln					CHN1_uc010zeq.1_Missense_Mutation_p.R77Q|CHN1_uc002ujj.2_5'UTR	p.R77Q	NM_001822	NP_001813	P15882	CHIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.226)		5	760	-			77			SH2.		A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	ENST00000409900.3	37	c.230G>A	CCDS46455.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504286	0.85176	.	.	ENSG00000128656	ENST00000409900;ENST00000409156	T;T	0.63580	-0.05;-0.05	5.72	5.72	0.89469	SH2 motif (4);	0.000000	0.85682	D	0.000000	T	0.70316	0.3210	M	0.69463	2.115	0.80722	D	1	B;B	0.30605	0.131;0.287	B;B	0.42138	0.142;0.377	T	0.66208	-0.5981	10	0.37606	T	0.19	.	18.8071	0.92041	0.0:1.0:0.0:0.0	.	77;77	B4DV19;P15882	.;CHIN_HUMAN	Q	77	ENSP00000386741:R77Q;ENSP00000386470:R77Q	ENSP00000386470:R77Q	R	-	2	0	CHN1	175488062	1.000000	0.71417	0.987000	0.45799	0.973000	0.67179	7.217000	0.77982	2.865000	0.98341	0.655000	0.94253	CGG		0.463	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1	NM_001822		3	16	0	0	0	0	3	16				
CERKL	375298	broad.mit.edu	37	2	182403829	182403829	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:182403829C>T	ENST00000339098.5	-	13	1605	c.1606G>A	c.(1606-1608)Gtc>Atc	p.V536I	CERKL_ENST00000410087.3_Missense_Mutation_p.V510I|CERKL_ENST00000409440.3_Missense_Mutation_p.V492I|CERKL_ENST00000374970.2_Missense_Mutation_p.V441I|CERKL_ENST00000374969.2_Missense_Mutation_p.V397I			Q49MI3	CERKL_HUMAN	ceramide kinase-like	536					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.V510I(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTAATATGGACCTCTGATGCA	0.373																																						uc002unx.2		NA																	1	Substitution - Missense(1)		ovary(1)	ovary(2)|kidney(1)|skin(1)	4						c.(1606-1608)GTC>ATC		ceramide kinase-like isoform b							138.0	133.0	135.0					2																	182403829		2203	4300	6503	SO:0001583	missense	375298				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity	g.chr2:182403829C>T	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.1606G>A	2.37:g.182403829C>T	ENSP00000341159:p.Val536Ile					CERKL_uc002uny.2_Missense_Mutation_p.V510I|CERKL_uc010zfm.1_Missense_Mutation_p.V492I|CERKL_uc002unz.2_Missense_Mutation_p.V258I|CERKL_uc002uoa.2_Missense_Mutation_p.V441I|CERKL_uc002uob.2_Missense_Mutation_p.V258I|CERKL_uc002uoc.2_Missense_Mutation_p.V397I|CERKL_uc010frk.2_RNA|CERKL_uc002unw.2_Missense_Mutation_p.V106I	p.V536I	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		13	1707	-			536					B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	c.1606G>A	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.584325	0.28268	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.14399	0.0348	L	0.52759	1.655	0.37065	D	0.898277	P;P;P;P;P	0.48230	0.907;0.778;0.859;0.793;0.818	P;B;P;B;B	0.45794	0.493;0.262;0.487;0.235;0.408	T	0.02893	-1.1097	10	0.02654	T	1	.	13.0238	0.58804	0.0:0.926:0.0:0.074	.	492;397;441;510;536	B4DEY1;Q49MI3-4;Q49MI3-3;Q49MI3-2;Q49MI3	.;.;.;.;CERKL_HUMAN	I	510;492;397;536;441	ENSP00000386725:V510I;ENSP00000387080:V492I;ENSP00000364108:V397I;ENSP00000341159:V536I;ENSP00000364109:V441I	ENSP00000341159:V536I	V	-	1	0	CERKL	182112074	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.773000	0.47686	2.736000	0.93811	0.655000	0.94253	GTC		0.373	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			27	45	0	0	0	0	27	45				
GULP1	51454	broad.mit.edu	37	2	189434779	189434779	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:189434779A>G	ENST00000409580.1	+	10	1255	c.541A>G	c.(541-543)Atg>Gtg	p.M181V	GULP1_ENST00000359135.3_Missense_Mutation_p.M181V|GULP1_ENST00000409843.1_Missense_Mutation_p.M181V|GULP1_ENST00000409830.1_Missense_Mutation_p.M181V|GULP1_ENST00000409609.1_Missense_Mutation_p.M181V|GULP1_ENST00000409805.1_Missense_Mutation_p.M78V			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	181					apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			AACAGAAAATATGGAACTTAA	0.289																																					Pancreas(178;563 2065 20199 42378 52815)	uc010fru.2		NA																	0				ovary(1)	1						c.(541-543)ATG>GTG		GULP, engulfment adaptor PTB domain containing							50.0	56.0	54.0					2																	189434779		2194	4280	6474	SO:0001583	missense	51454				apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity	g.chr2:189434779A>G	AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.541A>G	2.37:g.189434779A>G	ENSP00000386289:p.Met181Val					GULP1_uc002uqd.2_Missense_Mutation_p.M181V|GULP1_uc010zfw.1_Missense_Mutation_p.M78V|GULP1_uc002uqf.2_Missense_Mutation_p.M181V|GULP1_uc002uqg.2_Missense_Mutation_p.M181V|GULP1_uc002uqh.1_Missense_Mutation_p.M1V	p.M181V	NM_016315	NP_057399	Q9UBP9	GULP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)		9	1002	+			181			Potential.		B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Missense_Mutation	SNP	ENST00000409580.1	37	c.541A>G	CCDS2295.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.496|0.496	-0.872964|-0.872964	0.02570|0.02570	.|.	.|.	ENSG00000144366|ENSG00000144366	ENST00000451191|ENST00000409843;ENST00000409830;ENST00000409805;ENST00000359135;ENST00000409580;ENST00000409609	.|T;T;T;T;T	.|0.40225	.|1.04;1.04;1.04;1.04;1.04	5.86|5.86	-0.567|-0.567	0.11763|0.11763	.|.	.|0.605612	.|0.19955	.|N	.|0.102321	T|T	0.28134|0.28134	0.0694|0.0694	L|L	0.34521|0.34521	1.04|1.04	0.21105|0.21105	N|N	0.999783|0.999783	.|B;B;B;B	.|0.06786	.|0.0;0.001;0.0;0.0	.|B;B;B;B	.|0.06405	.|0.001;0.002;0.0;0.0	T|T	0.19614|0.19614	-1.0300|-1.0300	5|10	.|0.29301	.|T	.|0.29	-4.2179|-4.2179	11.2465|11.2465	0.49000|0.49000	0.6013:0.0:0.3987:0.0|0.6013:0.0:0.3987:0.0	.|.	.|78;5;181;181	.|E9PB86;Q59EC1;Q9UBP9;B8ZZ72	.|.;.;GULP1_HUMAN;.	M|V	5|181;181;78;181;181;181	.|ENSP00000387144:M181V;ENSP00000386732:M181V;ENSP00000352047:M181V;ENSP00000386289:M181V;ENSP00000386867:M181V	.|ENSP00000352047:M181V	I|M	+|+	3|1	3|0	GULP1|GULP1	189143024|189143024	0.002000|0.002000	0.14202|0.14202	0.971000|0.971000	0.41717|0.41717	0.993000|0.993000	0.82548|0.82548	0.698000|0.698000	0.25571|0.25571	-0.031000|-0.031000	0.13781|0.13781	0.528000|0.528000	0.53228|0.53228	ATA|ATG		0.289	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335722.1	NM_016315		14	24	0	0	0	0	14	24				
SATB2	23314	broad.mit.edu	37	2	200173524	200173524	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:200173524G>A	ENST00000417098.1	-	10	2515	c.1699C>T	c.(1699-1701)Cgc>Tgc	p.R567C	SATB2_ENST00000428695.1_Missense_Mutation_p.R449C|SATB2_ENST00000260926.5_Missense_Mutation_p.R567C|SATB2_ENST00000443023.1_Missense_Mutation_p.R508C|SATB2_ENST00000457245.1_Missense_Mutation_p.R567C	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	567					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTTGCATGCGTTCGCTGTGG	0.597																																					Colon(30;262 767 11040 24421 36230)	uc002uuy.1		NA																	0				ovary(1)	1						c.(1699-1701)CGC>TGC		SATB homeobox 2							172.0	141.0	151.0					2																	200173524		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200173524G>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1699C>T	2.37:g.200173524G>A	ENSP00000401112:p.Arg567Cys					SATB2_uc010fsq.1_Missense_Mutation_p.R449C|SATB2_uc002uuz.1_Missense_Mutation_p.R567C|SATB2_uc002uva.1_Missense_Mutation_p.R567C	p.R567C	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			10	2516	-			567					A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.1699C>T	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645800	0.87958	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.57752	0.38;0.44;0.38;0.47;0.38	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	N	0.08118	0	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	P;P	0.58928	0.848;0.848	T	0.61955	-0.6956	10	0.72032	D	0.01	-15.7857	19.6142	0.95626	0.0:0.0:1.0:0.0	.	449;567	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	C	567;508;567;449;567	ENSP00000401112:R567C;ENSP00000388764:R508C;ENSP00000260926:R567C;ENSP00000388581:R449C;ENSP00000405420:R567C	ENSP00000260926:R567C	R	-	1	0	SATB2	199881769	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.785000	0.68998	2.941000	0.99782	0.655000	0.94253	CGC		0.597	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		20	75	0	0	0	0	20	75				
FN1	2335	broad.mit.edu	37	2	216284069	216284069	+	Missense_Mutation	SNP	A	A	T	rs150405747	byFrequency	TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:216284069A>T	ENST00000359671.1	-	12	1980	c.1715T>A	c.(1714-1716)aTt>aAt	p.I572N	FN1_ENST00000357009.2_Missense_Mutation_p.I572N|FN1_ENST00000354785.4_Missense_Mutation_p.I572N|FN1_ENST00000443816.1_Missense_Mutation_p.I572N|FN1_ENST00000426059.1_Missense_Mutation_p.I572N|FN1_ENST00000346544.3_Missense_Mutation_p.I572N|FN1_ENST00000323926.6_Missense_Mutation_p.I572N|FN1_ENST00000345488.5_Missense_Mutation_p.I572N|FN1_ENST00000432072.2_Missense_Mutation_p.I572N|FN1_ENST00000336916.4_Missense_Mutation_p.I572N|FN1_ENST00000421182.1_Missense_Mutation_p.I572N|FN1_ENST00000356005.4_Missense_Mutation_p.I572N|FN1_ENST00000357867.4_Missense_Mutation_p.I572N|FN1_ENST00000446046.1_Missense_Mutation_p.I572N			P02751	FINC_HUMAN	fibronectin 1	572	Collagen-binding.|Fibronectin type-I 9. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TGAATCTCCAATTTGATAAAA	0.418																																						uc002vfa.2		NA																	0				central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(1714-1716)ATT>AAT		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						122.0	109.0	113.0					2																	216284069		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216284069A>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1715T>A	2.37:g.216284069A>T	ENSP00000352696:p.Ile572Asn					FN1_uc002vfb.2_Missense_Mutation_p.I572N|FN1_uc002vfc.2_Missense_Mutation_p.I572N|FN1_uc002vfd.2_Missense_Mutation_p.I572N|FN1_uc002vfe.2_Missense_Mutation_p.I572N|FN1_uc002vff.2_Missense_Mutation_p.I572N|FN1_uc002vfg.2_Missense_Mutation_p.I572N|FN1_uc002vfh.2_Missense_Mutation_p.I572N|FN1_uc002vfi.2_Missense_Mutation_p.I572N|FN1_uc002vfj.2_Missense_Mutation_p.I572N|FN1_uc002vfl.2_Missense_Mutation_p.I572N	p.I572N	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	12	1981	-		Renal(323;0.127)	572			Fibronectin type-I 9.|Collagen-binding.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.1715T>A		.	.	.	.	.	.	.	.	.	.	A	32	5.123732	0.94429	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	6.06	6.06	0.98353	.	0.080063	0.52532	D	0.000076	T	0.68696	0.3029	M	0.72894	2.215	0.80722	D	1	D;D;D;B;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.046;0.999;0.999;1.0;0.999;0.998;0.998;0.998	D;D;D;B;D;D;D;D;D;D;D	0.97110	1.0;0.996;1.0;0.011;0.967;0.958;1.0;0.998;0.93;0.93;0.997	T	0.69562	-0.5112	10	0.51188	T	0.08	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	572;572;572;572;572;572;572;572;572;572;572	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	N	572	ENSP00000394423:I572N;ENSP00000323534:I572N;ENSP00000338200:I572N;ENSP00000350534:I572N;ENSP00000346839:I572N;ENSP00000352696:I572N;ENSP00000265312:I572N;ENSP00000273049:I572N;ENSP00000349509:I572N;ENSP00000410422:I572N;ENSP00000415018:I572N;ENSP00000399538:I572N;ENSP00000348285:I572N;ENSP00000398907:I572N	ENSP00000265313:I572N	I	-	2	0	FN1	215992314	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.324000	0.78689	0.533000	0.62120	ATT		0.418	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		14	34	0	0	0	0	14	34				
STK36	27148	broad.mit.edu	37	2	219540848	219540848	+	Silent	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:219540848C>T	ENST00000295709.3	+	6	810	c.531C>T	c.(529-531)taC>taT	p.Y177Y	STK36_ENST00000392106.2_Silent_p.Y177Y|STK36_ENST00000392105.3_Silent_p.Y177Y|STK36_ENST00000440309.1_Silent_p.Y177Y	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		AGCGACCATACGACCACACAG	0.532																																						uc002viu.2		NA																	0				ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11						c.(529-531)TAC>TAT		serine/threonine kinase 36							126.0	119.0	122.0					2																	219540848		2203	4300	6503	SO:0001819	synonymous_variant	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219540848C>T	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.531C>T	2.37:g.219540848C>T						STK36_uc002viv.2_Silent_p.Y177Y	p.Y177Y	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	6	797	+		Renal(207;0.0915)	177			Protein kinase.			Silent	SNP	ENST00000295709.3	37	c.531C>T	CCDS2421.1																																																																																				0.532	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			7	132	0	0	0	0	7	132				
UGT1A5	54579	broad.mit.edu	37	2	234621836	234621836	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:234621836A>G	ENST00000373414.3	+	1	199	c.199A>G	c.(199-201)Atg>Gtg	p.M67V	UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000608381.1_Missense_Mutation_p.M67V|UGT1A10_ENST00000373445.1_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	67						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		GGAGGTGAATATGTACATCAA	0.547																																						uc002vuw.2		NA																	0				skin(1)	1						c.(199-201)ATG>GTG		UDP glycosyltransferase 1 family, polypeptide A5							87.0	80.0	82.0					2																	234621836		2203	4300	6503	SO:0001583	missense	54579				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr2:234621836A>G	M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"""UDP glucuronosyltransferases"""	12537	other	complex locus constituent		606430	"""UDP glycosyltransferase 1 family, polypeptide A5"""			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.199A>G	2.37:g.234621836A>G	ENSP00000362513:p.Met67Val					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Missense_Mutation_p.M67V	p.M67V	NM_019078	NP_061951	P35504	UD15_HUMAN		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	1	199	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	67					B8K294	Missense_Mutation	SNP	ENST00000373414.3	37	c.199A>G	CCDS33404.1	.	.	.	.	.	.	.	.	.	.	A	2.515	-0.312038	0.05422	.	.	ENSG00000240224	ENST00000373414	T	0.57436	0.4	4.83	-9.66	0.00534	.	0.954771	0.08799	N	0.892057	T	0.23054	0.0557	N	0.16130	0.375	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.08911	-1.0699	10	0.24483	T	0.36	.	2.6946	0.05130	0.2193:0.1986:0.3785:0.2037	.	67;67	Q5DSZ9;P35504	.;UD15_HUMAN	V	67	ENSP00000362513:M67V	ENSP00000362513:M67V	M	+	1	0	UGT1A5	234286575	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-7.973000	0.00027	-3.104000	0.00243	0.449000	0.29647	ATG		0.547	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1	NM_019078		23	49	0	0	0	0	23	49				
COL6A3	1293	broad.mit.edu	37	2	238303780	238303780	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr2:238303780T>A	ENST00000295550.4	-	3	611	c.159A>T	c.(157-159)gaA>gaT	p.E53D	COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.E53D|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.E53D|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000353578.4_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	53	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTTGGAAATGTTCCTCTCCAA	0.368																																						uc002vwl.2		NA																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(157-159)GAA>GAT		alpha 3 type VI collagen isoform 1 precursor							37.0	39.0	38.0					2																	238303780		2203	4299	6502	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238303780T>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.159A>T	2.37:g.238303780T>A	ENSP00000295550:p.Glu53Asp					COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Intron|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.E53D	p.E53D	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	3	444	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	53			VWFA 1.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.159A>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	T	10.88	1.476299	0.26511	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000346358;ENST00000433762	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	4.63	-9.27	0.00659	von Willebrand factor, type A (3);	0.299159	0.22998	U	0.053101	T	0.52108	0.1714	N	0.20445	0.575	0.09310	N	1	B;B	0.15930	0.015;0.009	B;B	0.17433	0.018;0.018	T	0.37641	-0.9697	10	0.12766	T	0.61	.	10.7322	0.46104	0.0:0.4953:0.1938:0.3108	.	53;53	E9PCV6;P12111	.;CO6A3_HUMAN	D	53	ENSP00000295550:E53D;ENSP00000315609:E53D;ENSP00000295546:E53D;ENSP00000389539:E53D	ENSP00000295550:E53D	E	-	3	2	COL6A3	237968519	0.363000	0.24989	0.041000	0.18516	0.963000	0.63663	-0.344000	0.07780	-2.974000	0.00285	-0.486000	0.04755	GAA		0.368	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		15	23	0	0	0	0	15	23				
SLC23A2	9962	broad.mit.edu	37	20	4864369	4864369	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr20:4864369G>A	ENST00000379333.1	-	9	1135	c.743C>T	c.(742-744)aCa>aTa	p.T248I	SLC23A2_ENST00000338244.1_Missense_Mutation_p.T248I|SLC23A2_ENST00000424750.2_Intron|SLC23A2_ENST00000468355.1_5'UTR|snoU13_ENST00000516249.1_RNA	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	248					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CACCGTGGGTGTAATGGTCAA	0.582																																						uc002wlg.1		NA																	0				ovary(2)	2						c.(742-744)ACA>ATA		solute carrier family 23 (nucleobase							92.0	87.0	89.0					20																	4864369		2203	4300	6503	SO:0001583	missense	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4864369G>A	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.743C>T	20.37:g.4864369G>A	ENSP00000368637:p.Thr248Ile					SLC23A2_uc010zqr.1_Intron|SLC23A2_uc002wlh.1_Missense_Mutation_p.T248I|SLC23A2_uc002wli.2_Missense_Mutation_p.T247I	p.T248I	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN			9	1118	-			248			Helical; (Potential).		B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	ENST00000379333.1	37	c.743C>T	CCDS13085.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746075	0.69418	.	.	ENSG00000089057	ENST00000379333;ENST00000338244	T;T	0.16743	2.32;2.32	5.43	5.43	0.79202	.	0.088868	0.85682	D	0.000000	T	0.33760	0.0874	L	0.52905	1.665	0.80722	D	1	D;D	0.56035	0.974;0.974	P;P	0.56398	0.797;0.797	T	0.01256	-1.1404	10	0.87932	D	0	-17.4172	17.9771	0.89130	0.0:0.0:1.0:0.0	.	248;248	A0MSJ5;Q9UGH3	.;S23A2_HUMAN	I	248	ENSP00000368637:T248I;ENSP00000344322:T248I	ENSP00000344322:T248I	T	-	2	0	SLC23A2	4812369	1.000000	0.71417	0.952000	0.39060	0.121000	0.20230	9.629000	0.98417	2.826000	0.97356	0.655000	0.94253	ACA		0.582	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			4	78	0	0	0	0	4	78				
GNAS	2778	broad.mit.edu	37	20	57428562	57428562	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr20:57428562T>A	ENST00000371100.4	+	1	794	c.242T>A	c.(241-243)cTc>cAc	p.L81H	GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.L81H|GNAS_ENST00000371099.2_Missense_Mutation_p.L81H|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.S18T|GNAS-AS1_ENST00000424094.2_RNA	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TTTCAGGTCCTCAACCCGGCA	0.612			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	uc002xzw.2		NA		Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	McCune-Albright syndrome; pseudohypoparathyroidism|type IA	E			pituitary adenoma		0				pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292						c.(241-243)CTC>CAC		GNAS complex locus XLas							24.0	27.0	26.0					20																	57428562		1922	4133	6055	SO:0001583	missense	2778	3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome			activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57428562T>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.242T>A	20.37:g.57428562T>A	ENSP00000360141:p.Leu81His	TSP Lung(22;0.16)				GNASAS_uc002xzs.1_5'Flank|GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	p.L81H	NM_080425	NP_536350	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	527	+	all_lung(29;0.0104)		Error:Variant_position_missing_in_P63092_after_alignment					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	c.242T>A	CCDS46622.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.953|4.953	0.177078|0.177078	0.09443|0.09443	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102|ENST00000306120	D;D|.	0.89810|.	-2.57;-2.57|.	4.55|4.55	1.1|1.1	0.20463|0.20463	.|.	.|.	.|.	.|.	.|.	T|T	0.34542|0.34542	0.0901|0.0901	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	D|.	0.63046|.	0.992|.	P|.	0.51355|.	0.667|.	T|T	0.28364|0.28364	-1.0046|-1.0046	9|6	0.52906|0.15499	T|T	0.07|0.54	.|.	5.7021|5.7021	0.17887|0.17887	0.0:0.3446:0.0:0.6554|0.0:0.3446:0.0:0.6554	.|.	81|.	Q5JWF2|.	GNAS1_HUMAN|.	H|T	81|18	ENSP00000360141:L81H;ENSP00000360143:L81H|.	ENSP00000360140:L81H|ENSP00000302237:S18T	L|S	+|+	2|1	0|0	GNAS|GNAS	56861957|56861957	0.000000|0.000000	0.05858|0.05858	0.009000|0.009000	0.14445|0.14445	0.035000|0.035000	0.12851|0.12851	0.117000|0.117000	0.15583|0.15583	0.340000|0.340000	0.23745|0.23745	0.455000|0.455000	0.32223|0.32223	CTC|TCA		0.612	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		3	22	0	0	0	0	3	22				
DSCAM	1826	broad.mit.edu	37	21	41385184	41385184	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr21:41385184C>T	ENST00000400454.1	-	33	6293	c.5816G>A	c.(5815-5817)cGc>cAc	p.R1939H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1939				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GACCGTGGGGCGCTTCAGGGT	0.612																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(5815-5817)CGC>CAC		Down syndrome cell adhesion molecule isoform							39.0	42.0	41.0					21																	41385184		1963	4146	6109	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41385184C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5816G>A	21.37:g.41385184C>T	ENSP00000383303:p.Arg1939His					DSCAM_uc002yyr.1_RNA	p.R1939H	NM_001389	NP_001380	O60469	DSCAM_HUMAN			33	6268	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1939	HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).		Cytoplasmic (Potential).		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.5816G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	.	24.3	4.515604	0.85389	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.64085	0.02;-0.08	5.29	5.29	0.74685	.	0.054053	0.85682	D	0.000000	T	0.59321	0.2185	N	0.24115	0.695	0.45621	D	0.998553	D	0.67145	0.996	P	0.49502	0.613	T	0.64347	-0.6429	10	0.56958	D	0.05	.	18.9499	0.92637	0.0:1.0:0.0:0.0	.	1939	O60469	DSCAM_HUMAN	H	1939;1673	ENSP00000383303:R1939H;ENSP00000385342:R1673H	ENSP00000383303:R1939H	R	-	2	0	DSCAM	40307054	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.290000	0.78711	2.464000	0.83262	0.557000	0.71058	CGC		0.612	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		11	21	0	0	0	0	11	21				
COL6A2	1292	broad.mit.edu	37	21	47532166	47532166	+	Missense_Mutation	SNP	G	G	A	rs200387819		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr21:47532166G>A	ENST00000300527.4	+	3	493	c.389G>A	c.(388-390)cGc>cAc	p.R130H	COL6A2_ENST00000357838.4_Missense_Mutation_p.R130H|COL6A2_ENST00000310645.5_Missense_Mutation_p.R130H|COL6A2_ENST00000397763.1_Missense_Mutation_p.R130H|COL6A2_ENST00000409416.1_Missense_Mutation_p.R130H	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	130	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TCCTTCCGCCGCGGCACCTTC	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		13455	0.0		0.001	False		,,,				2504	0.0					uc002zia.1		NA																	0				central_nervous_system(7)|ovary(1)	8						c.(388-390)CGC>CAC		alpha 2 type VI collagen isoform 2C2 precursor		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	32.0	34.0	33.0		389,389,389	4.3	0.9	21		33	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	COL6A2	NM_001849.3,NM_058174.2,NM_058175.2	29,29,29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	130/1020,130/919,130/829	47532166	1,13003	2203	4299	6502	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47532166G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.389G>A	21.37:g.47532166G>A	ENSP00000300527:p.Arg130His					COL6A2_uc002zhy.1_Missense_Mutation_p.R130H|COL6A2_uc002zhz.1_Missense_Mutation_p.R130H|COL6A2_uc002zib.1_Intron	p.R130H	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	3	471	+	Breast(49;0.245)		130			VWFA 1.|Nonhelical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.389G>A	CCDS13728.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	2	0.002638522427440633	G	16.63	3.176345	0.57692	0.0	1.16E-4	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000436769;ENST00000409416;ENST00000397763	T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	4.34	4.34	0.51931	von Willebrand factor, type A (3);	0.123193	0.51477	D	0.000084	D	0.82972	0.5153	L	0.40543	1.245	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.73380	0.98;0.956;0.949	T	0.82938	-0.0209	10	0.39692	T	0.17	-15.2804	17.2361	0.86999	0.0:0.0:1.0:0.0	.	130;130;130	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	H	130	ENSP00000300527:R130H;ENSP00000350497:R130H;ENSP00000312529:R130H;ENSP00000390418:R130H;ENSP00000387115:R130H;ENSP00000380870:R130H	ENSP00000300527:R130H	R	+	2	0	COL6A2	46356594	0.992000	0.36948	0.936000	0.37596	0.930000	0.56654	3.686000	0.54685	2.142000	0.66516	0.467000	0.42956	CGC		0.672	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			18	28	0	0	0	0	18	28				
BCR	613	broad.mit.edu	37	22	23523321	23523321	+	Silent	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr22:23523321C>T	ENST00000305877.8	+	1	925	c.174C>T	c.(172-174)taC>taT	p.Y58Y	BCR_ENST00000359540.3_Silent_p.Y58Y|BCR_ENST00000398512.5_Silent_p.Y58Y	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	58	Kinase.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	GCATGATCTACCTGCAGACGT	0.677			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																	uc002zww.2		NA		Dom	yes		22	22q11.21	613	T	breakpoint cluster region			L	ABL1| FGFR1|JAK2 		CML|ALL|AML	BCR/JAK2(6)	0				haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						c.(172-174)TAC>TAT		breakpoint cluster region isoform 1							21.0	22.0	22.0					22																	23523321		2185	4279	6464	SO:0001819	synonymous_variant	613				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr22:23523321C>T		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.174C>T	22.37:g.23523321C>T						BCR_uc002zwx.2_Silent_p.Y58Y	p.Y58Y	NM_004327	NP_004318	P11274	BCR_HUMAN			1	770	+			58			Kinase.		P78501|Q12842|Q4LE80|Q6NZI3	Silent	SNP	ENST00000305877.8	37	c.174C>T	CCDS13806.1																																																																																				0.677	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		3	8	0	0	0	0	3	8				
TRMU	55687	broad.mit.edu	37	22	46748195	46748195	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr22:46748195T>C	ENST00000290846.4	+	7	1080	c.740T>C	c.(739-741)aTa>aCa	p.I247T	TRMU_ENST00000424260.2_3'UTR|TRMU_ENST00000381019.3_Missense_Mutation_p.I247T	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	247					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		TTTATTTCCATAGAAGACAAT	0.502																																						uc003bhp.2		NA																	0				ovary(1)	1						c.(739-741)ATA>ACA		tRNA 5-methylaminomethyl-2-thiouridylate							166.0	169.0	168.0					22																	46748195		2203	4300	6503	SO:0001583	missense	55687					mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding	g.chr22:46748195T>C	AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"""tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase """	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.740T>C	22.37:g.46748195T>C	ENSP00000290846:p.Ile247Thr					TRMU_uc011arb.1_Missense_Mutation_p.I247T|TRMU_uc003bhq.2_Missense_Mutation_p.I29T|TRMU_uc003bhs.2_Missense_Mutation_p.I247T|TRMU_uc003bhr.2_Missense_Mutation_p.I133T|TRMU_uc003bht.2_Missense_Mutation_p.I100T|TRMU_uc003bhu.2_Missense_Mutation_p.I29T|TRMU_uc003bhv.2_Missense_Mutation_p.I100T	p.I247T	NM_018006	NP_060476	O75648	MTU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)	7	1104	+		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)	247					A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Missense_Mutation	SNP	ENST00000290846.4	37	c.740T>C	CCDS14075.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.398720	0.62177	.	.	ENSG00000100416	ENST00000290846;ENST00000381019	T;T	0.73047	-0.71;-0.71	5.38	5.38	0.77491	Adenine nucleotide alpha hydrolase-like domains (1);	0.195954	0.51477	D	0.000099	T	0.70736	0.3258	L	0.43152	1.355	0.58432	D	0.999996	P;D;D;P;P	0.57899	0.936;0.981;0.962;0.804;0.866	P;P;P;B;P	0.54965	0.52;0.74;0.765;0.386;0.67	T	0.68409	-0.5416	10	0.29301	T	0.29	-13.0076	9.5942	0.39565	0.0:0.0793:0.0:0.9207	.	247;93;93;247;247	B4DHM1;O75648-3;O75648-4;O75648-2;O75648	.;.;.;.;MTU1_HUMAN	T	247	ENSP00000290846:I247T;ENSP00000370407:I247T	ENSP00000290846:I247T	I	+	2	0	TRMU	45126859	1.000000	0.71417	0.168000	0.22838	0.845000	0.48019	5.331000	0.65905	2.036000	0.60181	0.533000	0.62120	ATA		0.502	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318042.2	NM_018006		85	133	0	0	0	0	85	133				
NUP210	23225	broad.mit.edu	37	3	13377046	13377046	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:13377046T>C	ENST00000254508.5	-	28	3833	c.3751A>G	c.(3751-3753)Acc>Gcc	p.T1251A	NUP210_ENST00000485755.1_5'Flank	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1251					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTCAGCCCGGTCCGGCCTTTT	0.592																																						uc003bxv.1		NA																	0				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11						c.(3751-3753)ACC>GCC		nucleoporin 210 precursor							83.0	78.0	80.0					3																	13377046		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13377046T>C	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3751A>G	3.37:g.13377046T>C	ENSP00000254508:p.Thr1251Ala						p.T1251A	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			28	3834	-	all_neural(104;0.187)		1251			Lumenal (Probable).		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.3751A>G	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	T	18.29	3.592452	0.66219	.	.	ENSG00000132182	ENST00000254508	T	0.07216	3.21	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.23766	0.0575	L	0.50333	1.59	0.58432	D	0.999996	D	0.89917	1.0	D	0.80764	0.994	T	0.00357	-1.1792	10	0.54805	T	0.06	.	15.5104	0.75776	0.0:0.0:0.0:1.0	.	1251	Q8TEM1	PO210_HUMAN	A	1251	ENSP00000254508:T1251A	ENSP00000254508:T1251A	T	-	1	0	NUP210	13352046	1.000000	0.71417	0.986000	0.45419	0.276000	0.26787	5.851000	0.69481	2.111000	0.64477	0.533000	0.62120	ACC		0.592	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		8	37	0	0	0	0	8	37				
FBLN2	2199	broad.mit.edu	37	3	13679190	13679190	+	Missense_Mutation	SNP	C	C	T	rs112412824	byFrequency	TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:13679190C>T	ENST00000295760.7	+	17	3395	c.3326C>T	c.(3325-3327)gCg>gTg	p.A1109V	FBLN2_ENST00000492059.1_Missense_Mutation_p.A1156V|FBLN2_ENST00000535798.1_Missense_Mutation_p.A1135V|FBLN2_ENST00000404922.3_Missense_Mutation_p.A1156V	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1109	Domain III.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ATTGGCCCCGCGCCAGCCTTC	0.622													C|||	5	0.000998403	0.0023	0.0014	5008	,	,		19829	0.001		0.0	False		,,,				2504	0.0					uc011avb.1		NA																	0				ovary(1)	1						c.(3325-3327)GCG>GTG		fibulin 2 isoform b precursor		C	VAL/ALA,VAL/ALA,VAL/ALA	5,4301		0,5,2148	43.0	48.0	46.0		3467,3467,3326	3.6	0.8	3	dbSNP_132	46	0,8486		0,0,4243	yes	missense,missense,missense	FBLN2	NM_001004019.1,NM_001165035.1,NM_001998.2	64,64,64	0,5,6391	TT,TC,CC		0.0,0.1161,0.0391	benign,benign,benign	1156/1232,1156/1232,1109/1185	13679190	5,12787	2153	4243	6396	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13679190C>T	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.3326C>T	3.37:g.13679190C>T	ENSP00000295760:p.Ala1109Val					FBLN2_uc011auz.1_Missense_Mutation_p.A1135V|FBLN2_uc011ava.1_Missense_Mutation_p.A1156V|FBLN2_uc011avc.1_Missense_Mutation_p.A1156V	p.A1109V	NM_001998	NP_001989	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		17	3451	+			1109			Domain III.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.3326C>T	CCDS46762.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	13.10	2.136551	0.37728	0.001161	0.0	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.79554	-1.28;-1.22;-1.19;-1.22	4.6	3.64	0.41730	.	0.194173	0.46442	N	0.000286	T	0.55970	0.1954	N	0.03608	-0.345	0.38616	D	0.951017	B;B;B	0.19331	0.003;0.035;0.016	B;B;B	0.13407	0.003;0.009;0.007	T	0.49762	-0.8905	10	0.21540	T	0.41	.	8.2578	0.31766	0.0:0.8658:0.0:0.1342	.	1109;1156;1135	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	V	1135;1156;1109;1156	ENSP00000445705:A1135V;ENSP00000384169:A1156V;ENSP00000295760:A1109V;ENSP00000420042:A1156V	ENSP00000295760:A1109V	A	+	2	0	FBLN2	13654191	0.992000	0.36948	0.758000	0.31321	0.605000	0.37080	3.932000	0.56537	0.998000	0.38996	0.462000	0.41574	GCG		0.622	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		9	0	0	0	0	0	9	0				
ANKRD28	23243	broad.mit.edu	37	3	15731669	15731669	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:15731669T>C	ENST00000399451.2	-	18	2097	c.1730A>G	c.(1729-1731)gAt>gGt	p.D577G	ANKRD28_ENST00000383777.1_Missense_Mutation_p.D610G|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	577						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						ATTTCTGACATCAAGATCTAA	0.363																																						uc003caj.1		NA																	0				breast(1)	1						c.(1729-1731)GAT>GGT		ankyrin repeat domain 28							96.0	91.0	92.0					3																	15731669		1886	4125	6011	SO:0001583	missense	23243					nucleoplasm	protein binding	g.chr3:15731669T>C	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1730A>G	3.37:g.15731669T>C	ENSP00000382379:p.Asp577Gly					ANKRD28_uc003cai.1_Missense_Mutation_p.D423G|ANKRD28_uc011avz.1_Missense_Mutation_p.D423G|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.D607G|ANKRD28_uc003cam.2_Missense_Mutation_p.D610G	p.D577G	NM_015199	NP_056014	O15084	ANR28_HUMAN			18	1873	-			577			ANK 16.		B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	c.1730A>G	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.689559	0.88735	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.55413	1.25;0.52;1.25	5.63	5.63	0.86233	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.72479	0.3465	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	0.984;1.0;0.999	D;D;D	0.79108	0.918;0.992;0.992	T	0.75602	-0.3261	10	0.62326	D	0.03	.	15.8476	0.78903	0.0:0.0:0.0:1.0	.	610;607;577	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	G	577;610;577	ENSP00000382379:D577G;ENSP00000373287:D610G;ENSP00000397341:D577G	ENSP00000373287:D610G	D	-	2	0	ANKRD28	15706673	1.000000	0.71417	0.995000	0.50966	0.853000	0.48598	7.691000	0.84191	2.132000	0.65825	0.528000	0.53228	GAT		0.363	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		2	5	0	0	0	0	2	5				
IFRD2	7866	broad.mit.edu	37	3	50326350	50326350	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:50326350C>A	ENST00000429673.2	-	9	1095	c.1096G>T	c.(1096-1098)Gac>Tac	p.D366Y	IFRD2_ENST00000436390.1_Missense_Mutation_p.D302Y|IFRD2_ENST00000417626.2_Missense_Mutation_p.D302Y|IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000336089.4_Missense_Mutation_p.D468Y			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	366						nucleus (GO:0005634)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCCTCCATGTCCTCGTAAACA	0.587																																						uc011bdp.1		NA																	0				lung(2)|ovary(1)	3						c.(1096-1098)GAC>TAC		interferon-related developmental regulator 2							41.0	45.0	44.0					3																	50326350		2118	4239	6357	SO:0001583	missense	7866						binding	g.chr3:50326350C>A	U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"""interferon-related protein"""	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.1096G>T	3.37:g.50326350C>A	ENSP00000398971:p.Asp366Tyr					IFRD2_uc003czb.2_Missense_Mutation_p.D468Y	p.D366Y	NM_006764	NP_006755	Q12894	IFRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	9	1225	-			366					Q9BVB4|Q9UJ88	Missense_Mutation	SNP	ENST00000429673.2	37	c.1096G>T	CCDS46831.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037771	0.54896	.	.	ENSG00000214706	ENST00000417626;ENST00000436390;ENST00000336089;ENST00000429673	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.73	5.73	0.89815	Interferon-related developmental regulator, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78207	0.4247	M	0.70787	2.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75204	-0.3400	10	0.33940	T	0.23	-30.2606	17.3963	0.87446	0.0:1.0:0.0:0.0	.	366;468	Q12894;Q9UJ88	IFRD2_HUMAN;.	Y	302;302;468;366	ENSP00000402849:D302Y;ENSP00000392316:D302Y;ENSP00000336936:D468Y;ENSP00000398971:D366Y	ENSP00000336936:D468Y	D	-	1	0	IFRD2	50301354	1.000000	0.71417	1.000000	0.80357	0.364000	0.29643	5.529000	0.67135	2.722000	0.93159	0.655000	0.94253	GAC		0.587	IFRD2-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006764		8	3	1	0	0.000157383	0.000168318	8	3				
FLNB	2317	broad.mit.edu	37	3	58104676	58104676	+	Silent	SNP	G	G	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:58104676G>T	ENST00000295956.4	+	19	2988	c.2823G>T	c.(2821-2823)ccG>ccT	p.P941P	FLNB_ENST00000357272.4_Silent_p.P941P|FLNB_ENST00000419752.2_Silent_p.P772P|FLNB_ENST00000348383.5_Silent_p.P941P|FLNB_ENST00000490882.1_Silent_p.P941P|FLNB_ENST00000493452.1_Silent_p.P772P|FLNB_ENST00000429972.2_Silent_p.P941P|FLNB_ENST00000358537.3_Silent_p.P941P	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	941					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TTGCTGCACCGCTGGATCTGA	0.517																																						uc003djj.2		NA																	0				breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19						c.(2821-2823)CCG>CCT		filamin B isoform 2							143.0	122.0	129.0					3																	58104676		2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58104676G>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.2823G>T	3.37:g.58104676G>T						FLNB_uc010hne.2_Silent_p.P941P|FLNB_uc003djk.2_Silent_p.P941P|FLNB_uc010hnf.2_Silent_p.P941P|FLNB_uc003djl.2_Silent_p.P772P|FLNB_uc003djm.2_Silent_p.P772P	p.P941P	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	19	2988	+			941			Filamin 8.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.2823G>T	CCDS2885.1																																																																																				0.517	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		6	47	1	0	0.00116845	0.00123431	6	47				
FLNB	2317	broad.mit.edu	37	3	58111419	58111419	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:58111419G>T	ENST00000295956.4	+	23	4175	c.4010G>T	c.(4009-4011)gGa>gTa	p.G1337V	FLNB_ENST00000357272.4_Missense_Mutation_p.G1337V|FLNB_ENST00000419752.2_Missense_Mutation_p.G1168V|FLNB_ENST00000348383.5_Missense_Mutation_p.G1337V|FLNB_ENST00000490882.1_Missense_Mutation_p.G1337V|FLNB_ENST00000493452.1_Missense_Mutation_p.G1168V|FLNB_ENST00000429972.2_Missense_Mutation_p.G1337V|FLNB_ENST00000358537.3_Missense_Mutation_p.G1337V	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1337	Interaction with FBLP1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CAAGGACCTGGATTGAAAGAG	0.522																																						uc003djj.2		NA																	0				breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19						c.(4009-4011)GGA>GTA		filamin B isoform 2							175.0	140.0	152.0					3																	58111419		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58111419G>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.4010G>T	3.37:g.58111419G>T	ENSP00000295956:p.Gly1337Val					FLNB_uc010hne.2_Missense_Mutation_p.G1337V|FLNB_uc003djk.2_Missense_Mutation_p.G1337V|FLNB_uc010hnf.2_Missense_Mutation_p.G1337V|FLNB_uc003djl.2_Missense_Mutation_p.G1168V|FLNB_uc003djm.2_Missense_Mutation_p.G1168V	p.G1337V	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	23	4175	+			1337			Filamin 12.|Interaction with FBLP1.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.4010G>T	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	31	5.086985	0.94100	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;-3.02	6.06	6.06	0.98353	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97964	0.9330	H	0.97962	4.115	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.98442	1.0587	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1337;1337;1168;1168;1337;1337	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	V	1337;1337;1337;1337;1337;1337;1168;1168	ENSP00000295956:G1337V;ENSP00000420213:G1337V;ENSP00000351339:G1337V;ENSP00000415599:G1337V;ENSP00000232447:G1337V;ENSP00000349819:G1337V;ENSP00000418510:G1168V;ENSP00000414532:G1168V	ENSP00000295956:G1337V	G	+	2	0	FLNB	58086459	1.000000	0.71417	0.976000	0.42696	0.889000	0.51656	9.858000	0.99539	2.882000	0.98803	0.655000	0.94253	GGA		0.522	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		36	34	1	0	9.04e-19	1.07e-18	36	34				
KPNA1	3836	broad.mit.edu	37	3	122145937	122145937	+	Silent	SNP	G	G	A	rs143005503		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:122145937G>A	ENST00000344337.6	-	14	1688	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F	KPNA1_ENST00000466923.1_5'UTR|RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	504					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		CTTCGGTCCCGAAGTAATGCT	0.438													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18268	0.0		0.0	False		,,,				2504	0.0				Melanoma(12;340 801 11196 19797)	uc003efd.1		NA																	0					0						c.(1510-1512)TTC>TTT		karyopherin alpha 1		G		0,4406		0,0,2203	171.0	147.0	155.0		1512	-3.9	1.0	3	dbSNP_134	155	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KPNA1	NM_002264.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		504/539	122145937	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3836				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr3:122145937G>A	S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.1512C>T	3.37:g.122145937G>A						KPNA1_uc003efb.1_Silent_p.F303F|KPNA1_uc003efc.1_Silent_p.F303F|KPNA1_uc011bjr.1_Silent_p.F303F|KPNA1_uc010hrh.2_Silent_p.F303F|KPNA1_uc003efe.2_Silent_p.F504F	p.F504F	NM_002264	NP_002255	P52294	IMA1_HUMAN		GBM - Glioblastoma multiforme(114;0.0898)	14	1548	-			504			ARM 10; atypical.		D3DN93|Q6IBQ9|Q9BQ56	Silent	SNP	ENST00000344337.6	37	c.1512C>T	CCDS3013.1																																																																																				0.438	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1	NM_002264		3	57	0	0	0	0	3	57				
MSL2	55167	broad.mit.edu	37	3	135870380	135870380	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:135870380G>C	ENST00000309993.2	-	2	2075	c.1343C>G	c.(1342-1344)cCt>cGt	p.P448R	MSL2_ENST00000434835.2_Missense_Mutation_p.P374R	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	448	Lys-rich.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						AGTCTTGGTAGGACTTCCTGG	0.423																																						uc003eqx.1		NA																	0				central_nervous_system(1)	1						c.(1342-1344)CCT>CGT		ring finger protein 184 isoform 1							89.0	92.0	91.0					3																	135870380		2203	4300	6503	SO:0001583	missense	55167				histone H4-K16 acetylation	MSL complex	zinc ion binding	g.chr3:135870380G>C	AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.1343C>G	3.37:g.135870380G>C	ENSP00000311827:p.Pro448Arg					MSL2_uc011bmb.1_Missense_Mutation_p.P374R	p.P448R	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN			2	2076	-			448			Lys-rich.		B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Missense_Mutation	SNP	ENST00000309993.2	37	c.1343C>G	CCDS33861.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.119970	0.56613	.	.	ENSG00000174579	ENST00000309993;ENST00000434835	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.78997	0.4372	M	0.68317	2.08	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.79470	-0.1790	9	0.72032	D	0.01	-9.0004	19.1813	0.93625	0.0:0.0:1.0:0.0	.	448	Q9HCI7	MSL2_HUMAN	R	448;374	.	ENSP00000311827:P448R	P	-	2	0	MSL2	137353070	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.473000	0.97714	2.771000	0.95319	0.563000	0.77884	CCT		0.423	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1	NM_018133		37	96	0	0	0	0	37	96				
PLSCR1	5359	broad.mit.edu	37	3	146251283	146251283	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:146251283G>C	ENST00000342435.4	-	3	478	c.68C>G	c.(67-69)cCt>cGt	p.P23R	PLSCR1_ENST00000487389.1_Missense_Mutation_p.P16R|PLSCR1_ENST00000448205.1_5'UTR|PLSCR1_ENST00000448787.2_Missense_Mutation_p.L15V	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	23	Proline-rich domain (PRD).				acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						TGGATACTGAGGAGGATACCC	0.408																																						uc003evx.3		NA																	0				ovary(2)	2						c.(67-69)CCT>CGT		phospholipid scramblase 1							111.0	113.0	112.0					3																	146251283		2203	4300	6503	SO:0001583	missense	5359				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:146251283G>C	AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.68C>G	3.37:g.146251283G>C	ENSP00000345494:p.Pro23Arg					PLSCR1_uc003evy.3_Missense_Mutation_p.P16R|PLSCR1_uc011bnn.1_Missense_Mutation_p.L15V|PLSCR1_uc003evz.3_RNA|PLSCR1_uc003ewa.2_Missense_Mutation_p.P23R	p.P23R	NM_021105	NP_066928	O15162	PLS1_HUMAN			3	456	-			23			Cytoplasmic.|SH3-binding 1 (Potential).|WW-binding 1 (Potential).		B2R8H8|B4DTE8	Missense_Mutation	SNP	ENST00000342435.4	37	c.68C>G	CCDS3135.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.60|12.60	1.987995|1.987995	0.35036|0.35036	.|.	.|.	ENSG00000188313|ENSG00000188313	ENST00000448787;ENST00000486631|ENST00000342435;ENST00000487389;ENST00000462666;ENST00000472349	T;T|T;T;T;T	0.30182|0.26518	1.97;1.54|2.08;2.06;2.11;1.73	3.58|3.58	1.78|1.78	0.24846|0.24846	.|.	.|.	.|.	.|.	.|.	T|T	0.39036|0.39036	0.1063|0.1063	M|M	0.67397|0.67397	2.05|2.05	0.18873|0.18873	N|N	0.999989|0.999989	P|D;P	0.41784|0.55385	0.762|0.971;0.952	B|P;P	0.39562|0.58454	0.303|0.839;0.521	T|T	0.13388|0.13388	-1.0511|-1.0511	9|9	0.62326|0.66056	D|D	0.03|0.02	.|.	5.9585|5.9585	0.19287|0.19287	0.2386:0.0:0.7614:0.0|0.2386:0.0:0.7614:0.0	.|.	15|23;23	B4DTE8|Q8WVK1;O15162	.|.;PLS1_HUMAN	V|R	15|23;16;23;23	ENSP00000411675:L15V;ENSP00000418550:L15V|ENSP00000345494:P23R;ENSP00000417792:P16R;ENSP00000418103:P23R;ENSP00000420523:P23R	ENSP00000411675:L15V|ENSP00000345494:P23R	L|P	-|-	1|2	0|0	PLSCR1|PLSCR1	147733973|147733973	0.506000|0.506000	0.26139|0.26139	0.010000|0.010000	0.14722|0.14722	0.032000|0.032000	0.12392|0.12392	1.382000|1.382000	0.34374|0.34374	0.513000|0.513000	0.28278|0.28278	0.650000|0.650000	0.86243|0.86243	CTC|CCT		0.408	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355257.2	NM_021105		46	68	0	0	0	0	46	68				
AGTR1	185	broad.mit.edu	37	3	148458873	148458873	+	Silent	SNP	T	T	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:148458873T>C	ENST00000497524.1	+	2	442	c.51T>C	c.(49-51)gaT>gaC	p.D17D	AGTR1_ENST00000404754.2_Silent_p.D17D|AGTR1_ENST00000349243.3_Silent_p.D17D|AGTR1_ENST00000542281.1_Silent_p.D17D|AGTR1_ENST00000461609.1_Silent_p.D17D|AGTR1_ENST00000418473.2_Silent_p.D17D|AGTR1_ENST00000475347.1_Silent_p.D17D|AGTR1_ENST00000402260.1_Silent_p.D17D|AGTR1_ENST00000474935.1_Silent_p.D17D	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	17					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TCCAAGATGATTGTCCCAAAG	0.363																																						uc003ewg.2		NA																	0					0						c.(49-51)GAT>GAC		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						84.0	85.0	84.0					3																	148458873		2203	4300	6503	SO:0001819	synonymous_variant	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148458873T>C	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.51T>C	3.37:g.148458873T>C						AGTR1_uc003ewh.2_Silent_p.D17D|AGTR1_uc003ewi.2_Silent_p.D17D|AGTR1_uc003ewj.2_Silent_p.D17D|AGTR1_uc003ewk.2_Silent_p.D17D	p.D17D	NM_031850	NP_114038	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	497	+			17			Extracellular (Potential).		Q13725|Q8TBK4	Silent	SNP	ENST00000497524.1	37	c.51T>C	CCDS3137.1																																																																																				0.363	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			28	32	0	0	0	0	28	32				
IGSF10	285313	broad.mit.edu	37	3	151166715	151166715	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:151166715T>C	ENST00000282466.3	-	4	1053	c.1054A>G	c.(1054-1056)Atc>Gtc	p.I352V		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	352					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTAGCACGATGTAGTCATTT	0.398																																						uc011bod.1		NA																	0				skin(7)|ovary(5)|central_nervous_system(1)	13						c.(1054-1056)ATC>GTC		immunoglobulin superfamily, member 10 precursor							107.0	104.0	105.0					3																	151166715		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151166715T>C	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1054A>G	3.37:g.151166715T>C	ENSP00000282466:p.Ile352Val						p.I352V	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	1054	-			352					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.1054A>G	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	T	1.926	-0.447264	0.04572	.	.	ENSG00000152580	ENST00000282466	T	0.70749	-0.51	5.37	1.42	0.22433	.	0.295363	0.24213	N	0.040517	T	0.56963	0.2021	L	0.50333	1.59	0.09310	N	1	B	0.25441	0.126	B	0.22753	0.041	T	0.49322	-0.8952	10	0.46703	T	0.11	.	3.984	0.09507	0.2511:0.1479:0.0:0.6009	.	352	Q6WRI0	IGS10_HUMAN	V	352	ENSP00000282466:I352V	ENSP00000282466:I352V	I	-	1	0	IGSF10	152649405	0.035000	0.19736	0.009000	0.14445	0.024000	0.10985	0.507000	0.22675	0.904000	0.36572	0.528000	0.53228	ATC		0.398	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		26	52	0	0	0	0	26	52				
NLGN1	22871	broad.mit.edu	37	3	173998698	173998698	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:173998698G>T	ENST00000457714.1	+	7	2506	c.2077G>T	c.(2077-2079)Gcc>Tcc	p.A693S	NLGN1_ENST00000361589.4_Missense_Mutation_p.A693S|NLGN1_ENST00000545397.1_Missense_Mutation_p.A693S|NLGN1_ENST00000401917.3_Missense_Mutation_p.A733S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	710					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GAACATCTTGGCCTTTGCAGC	0.463																																						uc003fio.1		NA																	0				lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(2077-2079)GCC>TCC		neuroligin 1							93.0	93.0	93.0					3																	173998698		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173998698G>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.2077G>T	3.37:g.173998698G>T	ENSP00000392500:p.Ala693Ser					NLGN1_uc003fip.1_Missense_Mutation_p.A693S	p.A693S	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2500	+	Ovarian(172;0.0025)		710			Helical; (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.2077G>T	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	32	5.182244	0.94885	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.87204	0.6119	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.87321	0.2318	10	0.66056	D	0.02	.	20.181	0.98201	0.0:0.0:1.0:0.0	.	693	Q8N2Q7-2	.	S	693;693;693;733	ENSP00000392500:A693S;ENSP00000354541:A693S;ENSP00000441108:A693S;ENSP00000385750:A733S	ENSP00000354541:A693S	A	+	1	0	NLGN1	175481392	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.813000	0.99286	2.840000	0.97914	0.655000	0.94253	GCC		0.463	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		50	68	1	0	2.28e-18	2.69e-18	50	68				
MUC4	4585	broad.mit.edu	37	3	195515017	195515017	+	Missense_Mutation	SNP	A	A	G	rs199883835		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:195515017A>G	ENST00000463781.3	-	2	3893	c.3434T>C	c.(3433-3435)gTa>gCa	p.V1145A	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V1145A	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	619					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V1145A(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATACTGAGGAAGT	0.562																																						uc011bto.1		NA																	2	Substitution - Missense(2)		stomach(2)		0						c.(3433-3435)GTA>GCA		mucin 4 isoform a							12.0	7.0	8.0					3																	195515017		680	1501	2181	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515017A>G	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3434T>C	3.37:g.195515017A>G	ENSP00000417498:p.Val1145Ala					MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	p.V1145A	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3894	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.3434T>C	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	1.557	-0.537621	0.04082	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32272	1.47;1.46	0.814	-1.63	0.08345	.	.	.	.	.	T	0.14527	0.0351	N	0.19112	0.55	0.80722	P	0.0	B	0.06786	0.001	B	0.01281	0.0	T	0.29941	-0.9995	7	.	.	.	.	3.4865	0.07622	0.2163:0.2632:0.5205:0.0	.	1145	E7ESK3	.	A	1145	ENSP00000417498:V1145A;ENSP00000420243:V1145A	.	V	-	2	0	MUC4	196999412	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	-1.901000	0.01597	-0.707000	0.05022	0.055000	0.15244	GTA		0.562	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		2	1	0	0	0	0	2	1				
HTT	3064	broad.mit.edu	37	4	3101073	3101073	+	Silent	SNP	G	G	A	rs372355130		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr4:3101073G>A	ENST00000355072.5	+	3	565	c.420G>A	c.(418-420)gaG>gaA	p.E140E		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	140					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ATGACGCAGAGTCAGATGTCA	0.428																																						uc011bvq.1		NA																	0				skin(2)|ovary(1)|lung(1)	4						c.(424-426)GAG>GAA		huntingtin							139.0	139.0	139.0					4																	3101073		2074	4223	6297	SO:0001819	synonymous_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3101073G>A	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.420G>A	4.37:g.3101073G>A							p.E142E	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	4	571	+		all_epithelial(65;0.18)	140					Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.426G>A	CCDS43206.1																																																																																				0.428	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		4	59	0	0	0	0	4	59				
TLR6	10333	broad.mit.edu	37	4	38830188	38830188	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr4:38830188T>C	ENST00000381950.1	-	1	972	c.907A>G	c.(907-909)Aca>Gca	p.T303A	TLR6_ENST00000436693.2_Missense_Mutation_p.T303A			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	303					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCTTTCAATGTCGTTTTAGAA	0.318																																						uc003gtm.2		NA																	0				ovary(2)	2						c.(907-909)ACA>GCA		toll-like receptor 6 precursor							62.0	66.0	65.0					4																	38830188		2203	4300	6503	SO:0001583	missense	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38830188T>C		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.907A>G	4.37:g.38830188T>C	ENSP00000371376:p.Thr303Ala					TLR6_uc010ifg.1_Missense_Mutation_p.T303A	p.T303A	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN			1	973	-			303			Extracellular (Potential).		B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	c.907A>G	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	T	2.549	-0.304620	0.05495	.	.	ENSG00000174130	ENST00000436693;ENST00000381950;ENST00000508542	T;T	0.07688	3.17;3.17	5.5	-8.28	0.01013	.	1.315740	0.05098	N	0.486573	T	0.02418	0.0074	N	0.02830	-0.485	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41502	-0.9505	10	0.25106	T	0.35	.	2.0724	0.03616	0.3235:0.1357:0.0876:0.4532	.	303	Q9Y2C9	TLR6_HUMAN	A	303	ENSP00000389600:T303A;ENSP00000371376:T303A	ENSP00000371376:T303A	T	-	1	0	TLR6	38506583	0.000000	0.05858	0.000000	0.03702	0.413000	0.31143	-2.293000	0.01145	-1.415000	0.02022	-0.415000	0.06103	ACA		0.318	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			10	11	0	0	0	0	10	11				
KIT	3815	broad.mit.edu	37	4	55594178	55594178	+	Splice_Site	SNP	G	G	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr4:55594178G>T	ENST00000288135.5	+	13	1978	c.1881G>T	c.(1879-1881)ccG>ccT	p.P627P		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	627	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAATTTTAGCGAGTGCCCATT	0.433		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													uc010igr.2		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	Mis|O	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma		0		p.P627L(1)		soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118						c.(1879-1881)CCG>CCT		v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						146.0	134.0	138.0					4																	55594178		2203	4300	6503	SO:0001630	splice_region_variant	3815	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55594178G>T	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1880-1G>T	4.37:g.55594178G>T						KIT_uc010igs.2_Silent_p.P623P|KIT_uc010igt.1_Silent_p.P76P	p.P627P	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	13	1968	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		627			Protein kinase.|Cytoplasmic (Potential).		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	ENST00000288135.5	37	c.1881G>T	CCDS3496.1																																																																																				0.433	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		Silent	36	48	1	0	3.21e-22	3.82e-22	36	48				
EPHA5	2044	broad.mit.edu	37	4	66467472	66467472	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr4:66467472G>C	ENST00000273854.3	-	3	1397	c.797C>G	c.(796-798)tCt>tGt	p.S266C	EPHA5_ENST00000432638.2_Missense_Mutation_p.S266C|EPHA5_ENST00000354839.4_Missense_Mutation_p.S266C|EPHA5_ENST00000511294.1_Missense_Mutation_p.S266C	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	266	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATCGGTCACAGAATGGTTGAC	0.527										TSP Lung(17;0.13)																												uc003hcy.2		NA																	0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(796-798)TCT>TGT		ephrin receptor EphA5 isoform a precursor							80.0	76.0	77.0					4																	66467472		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66467472G>C	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.797C>G	4.37:g.66467472G>C	ENSP00000273854:p.Ser266Cys	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.S197C|EPHA5_uc003hcz.2_Missense_Mutation_p.S266C|EPHA5_uc011cah.1_Missense_Mutation_p.S266C|EPHA5_uc011cai.1_Missense_Mutation_p.S266C|EPHA5_uc003hda.2_Missense_Mutation_p.S266C	p.S266C	NM_004439	NP_004430	P54756	EPHA5_HUMAN			3	990	-			266			Extracellular (Potential).|Cys-rich.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.797C>G	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353041	0.82132	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.76060	-0.9;-0.99;-0.87;-0.88	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000018	D	0.88897	0.6562	M	0.86805	2.84	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.947;0.999;0.962	D	0.89788	0.3966	10	0.87932	D	0	.	20.1208	0.97960	0.0:0.0:1.0:0.0	.	266;266;266;266	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	C	266	ENSP00000273854:S266C;ENSP00000389208:S266C;ENSP00000346899:S266C;ENSP00000427638:S266C	ENSP00000273854:S266C	S	-	2	0	EPHA5	66150067	1.000000	0.71417	0.981000	0.43875	0.922000	0.55478	9.869000	0.99810	2.758000	0.94735	0.655000	0.94253	TCT		0.527	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		23	32	0	0	0	0	23	32				
TMPRSS11F	389208	broad.mit.edu	37	4	68934384	68934384	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr4:68934384C>G	ENST00000356291.2	-	7	766	c.707G>C	c.(706-708)aGc>aCc	p.S236T	UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	236	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						ACTGATGAGGCTGGCTCCACA	0.522																																						uc003hdt.1		NA																	0				ovary(1)	1						c.(706-708)AGC>ACC		transmembrane protease, serine 11F							98.0	84.0	89.0					4																	68934384		2203	4300	6503	SO:0001583	missense	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68934384C>G	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.707G>C	4.37:g.68934384C>G	ENSP00000348639:p.Ser236Thr					LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron	p.S236T	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN			7	756	-			236			Peptidase S1.|Extracellular (Potential).		A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	c.707G>C	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	C	1.705	-0.500585	0.04291	.	.	ENSG00000198092	ENST00000356291	D	0.93133	-3.17	5.73	2.86	0.33363	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.182176	0.39544	N	0.001329	D	0.86756	0.6009	L	0.28192	0.835	0.23366	N	0.997825	B	0.13594	0.008	B	0.14578	0.011	T	0.66085	-0.6011	10	0.10111	T	0.7	.	14.3919	0.66986	0.0:0.4573:0.5427:0.0	.	236	Q6ZWK6	TM11F_HUMAN	T	236	ENSP00000348639:S236T	ENSP00000348639:S236T	S	-	2	0	TMPRSS11F	68616979	0.941000	0.31946	0.995000	0.50966	0.699000	0.40488	1.165000	0.31822	0.223000	0.20920	0.655000	0.94253	AGC		0.522	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		5	71	0	0	0	0	5	71				
SLC4A4	8671	broad.mit.edu	37	4	72425949	72425949	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr4:72425949G>T	ENST00000264485.5	+	23	3194	c.3077G>T	c.(3076-3078)aGt>aTt	p.S1026I	SLC4A4_ENST00000351898.6_Missense_Mutation_p.S942I|SLC4A4_ENST00000340595.3_Missense_Mutation_p.S982I|SLC4A4_ENST00000425175.1_Missense_Mutation_p.S1026I	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	1026					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	aagaagGGAAGTCTGGACAGT	0.388																																						uc003hfy.2		NA																	0				ovary(3)|kidney(1)|skin(1)	5						c.(3076-3078)AGT>ATT		solute carrier family 4, sodium bicarbonate							46.0	44.0	45.0					4																	72425949		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72425949G>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.3077G>T	4.37:g.72425949G>T	ENSP00000264485:p.Ser1026Ile					SLC4A4_uc010iic.2_Missense_Mutation_p.S1026I|SLC4A4_uc010iib.2_Missense_Mutation_p.S942I|SLC4A4_uc003hfz.2_Missense_Mutation_p.S1026I|SLC4A4_uc003hgc.3_Missense_Mutation_p.S982I|SLC4A4_uc010iid.2_Missense_Mutation_p.S230I	p.S1026I	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		23	3194	+			1026	S->D: Loss of regulation by cAMP of the transporter stoichiometry. Shifts transporter stoichiometry from 3:1 to 2:1.|S->A: Prevents phosphorylation by PKA. Loss of regulation by cAMP of the transporter stoichiometry.		Cytoplasmic (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.3077G>T	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024316	0.75390	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	T;T;T;T	0.78481	-1.16;-1.18;-0.8;-1.17	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.81074	0.4747	M	0.62723	1.935	0.80722	D	1	B;B;B;B	0.33857	0.112;0.127;0.365;0.429	B;B;B;B	0.41619	0.08;0.076;0.361;0.288	T	0.77419	-0.2595	10	0.34782	T	0.22	.	20.0912	0.97820	0.0:0.0:1.0:0.0	.	1026;942;982;1026	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;.;S4A4_HUMAN	I	1026;1026;942;982	ENSP00000264485:S1026I;ENSP00000393557:S1026I;ENSP00000307349:S942I;ENSP00000344272:S982I	ENSP00000264485:S1026I	S	+	2	0	SLC4A4	72644813	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.746000	0.94184	0.591000	0.81541	AGT		0.388	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		16	25	1	0	4.75e-09	5.42e-09	16	25				
UNC5C	8633	broad.mit.edu	37	4	96141148	96141148	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr4:96141148C>T	ENST00000453304.1	-	8	1636	c.1288G>A	c.(1288-1290)Gca>Aca	p.A430T	UNC5C_ENST00000506749.1_Missense_Mutation_p.A449T	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	430					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGTCTTGCTGCCTTGATGTTC	0.428																																						uc003htp.1		NA																	0				ovary(3)|pancreas(1)	4						c.(1288-1290)GCA>ACA		unc5C precursor							143.0	130.0	134.0					4																	96141148		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96141148C>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1288G>A	4.37:g.96141148C>T	ENSP00000406022:p.Ala430Thr					UNC5C_uc010ilc.1_Missense_Mutation_p.A449T|UNC5C_uc003htq.2_Missense_Mutation_p.A449T	p.A430T	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	8	1442	-		Hepatocellular(203;0.114)	430			Cytoplasmic (Potential).		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.1288G>A	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	C	6.134	0.392953	0.11638	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	T;T;T	0.54071	0.92;0.59;0.64	5.59	5.59	0.84812	.	0.100518	0.64402	D	0.000002	T	0.27384	0.0672	N	0.02286	-0.61	0.80722	D	1	B;B;B	0.14438	0.0;0.01;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.33828	-0.9853	10	0.02654	T	1	.	19.5953	0.95535	0.0:1.0:0.0:0.0	.	430;449;430	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	T	430;389;449;449	ENSP00000406022:A430T;ENSP00000426924:A449T;ENSP00000426153:A449T	ENSP00000328673:A389T	A	-	1	0	UNC5C	96360171	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.790000	0.55461	2.643000	0.89663	0.655000	0.94253	GCA		0.428	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		33	79	0	0	0	0	33	79				
C4orf3	401152	broad.mit.edu	37	4	120221571	120221571	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr4:120221571G>A	ENST00000504110.1	-	1	505	c.120C>T	c.(118-120)ccC>ccT	p.P40P	C4orf3_ENST00000399075.4_Silent_p.P173P	NM_001001701.3	NP_001001701.2	Q8WVX3	CD003_HUMAN	chromosome 4 open reading frame 3	40						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						AGGAGTGTTTGGGAAGCCCAT	0.517																																						uc003icv.3		NA																	0					0						c.(118-120)CCC>CCT		hypothetical protein LOC401152							155.0	163.0	161.0					4																	120221571		1970	4158	6128	SO:0001819	synonymous_variant	401152					integral to membrane		g.chr4:120221571G>A		CCDS43266.1, CCDS54798.1	4q26	2012-02-24			ENSG00000164096	ENSG00000164096			19225	protein-coding gene	gene with protein product	"""HCV F-transactivated protein 1"""						Standard	NM_001001701		Approved		uc021xrf.1	Q8WVX3	OTTHUMG00000161333	ENST00000504110.1:c.120C>T	4.37:g.120221571G>A							p.P40P	NM_001001701	NP_001001701	Q8WVX3	CD003_HUMAN			1	398	-			40					Q6J203	Silent	SNP	ENST00000504110.1	37	c.120C>T	CCDS43266.1																																																																																				0.517	C4orf3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364576.3	NM_001001701		47	71	0	0	0	0	47	71				
SLC6A19	340024	broad.mit.edu	37	5	1219624	1219624	+	Silent	SNP	C	C	T	rs200312665		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr5:1219624C>T	ENST00000304460.10	+	10	1439	c.1383C>T	c.(1381-1383)ctC>ctT	p.L461L		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	461					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTGCAGGCCTCATCTGCCTGG	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		18329	0.001		0.0	False		,,,				2504	0.0					uc003jbw.3		NA																	0					0						c.(1381-1383)CTC>CTT		solute carrier family 6, member 19							119.0	101.0	107.0					5																	1219624		2203	4300	6503	SO:0001819	synonymous_variant	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1219624C>T	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1383C>T	5.37:g.1219624C>T							p.L461L	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		10	1439	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		461			Helical; Name=9; (Potential).		A8K446	Silent	SNP	ENST00000304460.10	37	c.1383C>T	CCDS34130.1																																																																																				0.637	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		14	19	0	0	0	0	14	19				
SREK1	140890	broad.mit.edu	37	5	65458371	65458371	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr5:65458371C>T	ENST00000380918.3	+	6	1018	c.358C>T	c.(358-360)Cca>Tca	p.P120S	SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000334121.6_Missense_Mutation_p.P236S	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	120	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						AAATTCTGTACCAAGGGCCCT	0.378																																					GBM(10;31 347 27684 38976 41583)	uc003juo.2		NA																	0					0						c.(358-360)CCA>TCA		splicing factor, arginine/serine-rich 12 isoform							85.0	92.0	89.0					5																	65458371		2203	4300	6503	SO:0001583	missense	140890				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding	g.chr5:65458371C>T	AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"""RNA binding motif (RRM) containing"""	17882	protein-coding gene	gene with protein product	"""serine-arginine-rich splicing regulatory protein 508"""	609268	"""splicing factor, arginine/serine-rich 12"""	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809	ENST00000380918.3:c.358C>T	5.37:g.65458371C>T	ENSP00000370305:p.Pro120Ser					SFRS12_uc003jun.2_Missense_Mutation_p.P236S|SFRS12_uc010iwy.2_Missense_Mutation_p.P120S	p.P120S	NM_139168	NP_631907	Q8WXA9	SREK1_HUMAN		Lung(70;0.00449)	6	1018	+		Lung NSC(167;9.34e-06)|Prostate(74;0.00187)|Ovarian(174;0.0545)|Breast(144;0.0928)|Colorectal(97;0.234)	120			RRM.		A4FTW3|Q2M1J0|Q86X37	Missense_Mutation	SNP	ENST00000380918.3	37	c.358C>T	CCDS3991.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270355	0.40194	.	.	ENSG00000153914	ENST00000334121;ENST00000537482;ENST00000380918	T;T	0.06294	3.32;3.32	5.33	5.33	0.75918	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.097077	0.64402	D	0.000001	T	0.03915	0.0110	N	0.02973	-0.45	0.37568	D	0.919309	P;P;P	0.43885	0.82;0.82;0.642	B;B;B	0.44224	0.444;0.444;0.199	T	0.60672	-0.7217	10	0.19590	T	0.45	.	14.2472	0.65995	0.1491:0.8509:0.0:0.0	.	120;120;236	Q69YM5;Q8WXA9;Q8WXA9-2	.;SREK1_HUMAN;.	S	236;236;120	ENSP00000334538:P236S;ENSP00000370305:P120S	ENSP00000334538:P236S	P	+	1	0	SREK1	65494127	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.771000	0.47670	2.654000	0.90174	0.655000	0.94253	CCA		0.378	SREK1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381118.1	NM_001077199		9	62	0	0	0	0	9	62				
EFNA5	1946	broad.mit.edu	37	5	106723440	106723440	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr5:106723440A>G	ENST00000333274.6	-	3	732	c.451T>C	c.(451-453)Tgt>Cgt	p.C151R	EFNA5_ENST00000510359.1_5'UTR|EFNA5_ENST00000509503.1_Missense_Mutation_p.C151R	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	151	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell-cell adhesion (GO:0022407)|regulation of focal adhesion assembly (GO:0051893)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rho GTPase activity (GO:0032319)|retinal ganglion cell axon guidance (GO:0031290)	anchored component of external side of plasma membrane (GO:0031362)|plasma membrane (GO:0005886)	chemorepellent activity (GO:0045499)|ephrin receptor binding (GO:0046875)			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		AGCTTTAGACAGGACCTTCTT	0.438																																						uc003kol.2		NA																	0					0						c.(451-453)TGT>CGT		ephrin-A5 precursor							162.0	152.0	155.0					5																	106723440		2202	4300	6502	SO:0001583	missense	1946				cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding	g.chr5:106723440A>G	U26403	CCDS4097.1	5q21	2011-03-09			ENSG00000184349	ENSG00000184349		"""Ephrins"""	3225	protein-coding gene	gene with protein product		601535		EPLG7		8661153, 9245480	Standard	NM_001962		Approved	AF1, LERK7	uc003kol.3	P52803	OTTHUMG00000128741	ENST00000333274.6:c.451T>C	5.37:g.106723440A>G	ENSP00000328777:p.Cys151Arg						p.C151R	NM_001962	NP_001953	P52803	EFNA5_HUMAN		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)	3	733	-		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)	151						Missense_Mutation	SNP	ENST00000333274.6	37	c.451T>C	CCDS4097.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.403211	0.62288	.	.	ENSG00000184349	ENST00000333274;ENST00000509503	D;D	0.98075	-4.7;-4.7	5.56	5.56	0.83823	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.98940	0.9640	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99640	1.0988	10	0.62326	D	0.03	-14.7237	15.7093	0.77612	1.0:0.0:0.0:0.0	.	151	P52803	EFNA5_HUMAN	R	151	ENSP00000328777:C151R;ENSP00000426989:C151R	ENSP00000328777:C151R	C	-	1	0	EFNA5	106751339	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.923000	0.92808	2.101000	0.63845	0.533000	0.62120	TGT		0.438	EFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250652.1	NM_001962		10	144	0	0	0	0	10	144				
DPYSL3	1809	broad.mit.edu	37	5	146778660	146778660	+	Silent	SNP	G	G	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr5:146778660G>T	ENST00000398514.3	-	11	1637	c.1266C>A	c.(1264-1266)gcC>gcA	p.A422A	CTB-108O6.2_ENST00000607270.1_RNA|DPYSL3_ENST00000343218.5_Silent_p.A536A|DPYSL3_ENST00000534907.1_Silent_p.A48A	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	422					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGTTCTTGGCAGAGACGA	0.512																																						uc003lon.1		NA																	0				ovary(1)	1						c.(1264-1266)GCC>GCA		dihydropyrimidinase-like 3							110.0	110.0	110.0					5																	146778660		1957	4154	6111	SO:0001819	synonymous_variant	1809				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity	g.chr5:146778660G>T	D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.1266C>A	5.37:g.146778660G>T						DPYSL3_uc003loo.2_Silent_p.A536A	p.A422A	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	1376	-			422					B3SXQ8|Q93012	Silent	SNP	ENST00000398514.3	37	c.1266C>A	CCDS43381.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.321399	0.23994	.	.	ENSG00000113657	ENST00000520473	.	.	.	5.47	2.63	0.31362	.	.	.	.	.	T	0.46034	0.1372	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32771	-0.9894	4	.	.	.	-12.2484	3.1311	0.06424	0.2833:0.0:0.3703:0.3464	.	.	.	.	K	121	.	.	Q	-	1	0	DPYSL3	146758853	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.070000	0.30653	0.760000	0.33108	0.655000	0.94253	CAA		0.512	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387		7	90	1	0	9.7e-10	1.11e-09	7	90				
GFPT2	9945	broad.mit.edu	37	5	179751887	179751887	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr5:179751887C>A	ENST00000253778.8	-	8	774	c.605G>T	c.(604-606)aGc>aTc	p.S202I	GFPT2_ENST00000520165.1_5'Flank	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	202	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GAGCAGGGGGCTGCCTCTCCT	0.527																																						uc003mlw.1		NA																	0				ovary(1)|skin(1)	2						c.(604-606)AGC>ATC		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						79.0	84.0	83.0					5																	179751887		1951	4151	6102	SO:0001583	missense	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179751887C>A	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.605G>T	5.37:g.179751887C>A	ENSP00000253778:p.Ser202Ile						p.S202I	NM_005110	NP_005101	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	703	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	202			Glutamine amidotransferase type-2.		Q53XM2|Q9BWS4	Missense_Mutation	SNP	ENST00000253778.8	37	c.605G>T	CCDS43411.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787236	0.90367	.	.	ENSG00000131459	ENST00000253778;ENST00000518906	T;T	0.78246	-1.16;-1.16	5.25	5.25	0.73442	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.000000	0.85682	D	0.000000	D	0.91928	0.7444	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94224	0.7470	9	.	.	.	-37.234	18.8325	0.92145	0.0:1.0:0.0:0.0	.	202	O94808	GFPT2_HUMAN	I	202;104	ENSP00000253778:S202I;ENSP00000431125:S104I	.	S	-	2	0	GFPT2	179684493	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.518000	0.81795	2.450000	0.82876	0.462000	0.41574	AGC		0.527	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		36	64	1	0	9.81e-26	1.17e-25	36	64				
HIST1H2AL	8332	broad.mit.edu	37	6	27833150	27833150	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr6:27833150G>C	ENST00000357320.2	+	1	117	c.18G>C	c.(16-18)aaG>aaC	p.K6N		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	6						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						GACGCGGCAAGCAGGGAGGCA	0.582																																						uc003njw.2		NA																	0					0						c.(16-18)AAG>AAC		histone cluster 1, H2al							83.0	93.0	90.0					6																	27833150		2203	4300	6503	SO:0001583	missense	8332				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27833150G>C	X83549	CCDS4634.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198374	ENSG00000276903		"""Histones / Replication-dependent"""	4730	protein-coding gene	gene with protein product		602793	"""H2A histone family, member I"", ""histone 1, H2al"""	H2AFI		9439656, 9031620, 12408966	Standard	NM_003511		Approved	H2A/i, dJ193B12.9	uc003njw.3	P0C0S8	OTTHUMG00000014492	ENST00000357320.2:c.18G>C	6.37:g.27833150G>C	ENSP00000349873:p.Lys6Asn						p.K6N	NM_003511	NP_003502	P0C0S8	H2A1_HUMAN			1	44	+			6					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000357320.2	37	c.18G>C	CCDS4634.1	.	.	.	.	.	.	.	.	.	.	.	4.033	0.003614	0.07866	.	.	ENSG00000198374	ENST00000357320	T	0.46063	0.88	4.89	0.818	0.18778	.	0.000000	0.31936	U	0.006836	T	0.18425	0.0442	.	.	.	0.26560	N	0.973752	.	.	.	.	.	.	T	0.16958	-1.0385	7	0.87932	D	0	.	2.5539	0.04756	0.221:0.1299:0.516:0.1331	.	.	.	.	N	6	ENSP00000349873:K6N	ENSP00000349873:K6N	K	+	3	2	HIST1H2AL	27941129	0.979000	0.34478	0.058000	0.19502	0.007000	0.05969	0.137000	0.15995	0.175000	0.19841	-0.150000	0.13652	AAG		0.582	HIST1H2AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040160.1	NM_003511		10	122	0	0	0	0	10	122				
SYNGAP1	8831	broad.mit.edu	37	6	33400552	33400552	+	Silent	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr6:33400552C>T	ENST00000418600.2	+	5	579	c.478C>T	c.(478-480)Ctg>Ttg	p.L160L	SYNGAP1_ENST00000428982.2_Silent_p.L101L|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Silent_p.L160L	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	160	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TCGCCAGATCCTGCCTCGCTT	0.557																																						uc011dri.1		NA																	0				ovary(4)	4						c.(478-480)CTG>TTG		synaptic Ras GTPase activating protein 1							79.0	66.0	71.0					6																	33400552		2203	4300	6503	SO:0001819	synonymous_variant	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33400552C>T	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.478C>T	6.37:g.33400552C>T						SYNGAP1_uc003oeo.1_Silent_p.L145L|SYNGAP1_uc010juy.2_Silent_p.L145L	p.L160L	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN			5	673	+			160			PH.		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Silent	SNP	ENST00000418600.2	37	c.478C>T	CCDS34434.2																																																																																				0.557	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		20	29	0	0	0	0	20	29				
PI16	221476	broad.mit.edu	37	6	36930912	36930912	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr6:36930912C>T	ENST00000373674.3	+	5	1122	c.794C>T	c.(793-795)cCa>cTa	p.P265L	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	265					negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACCCAGGCCCCAACTTCCTTA	0.577																																						uc003ona.2		NA																	0					0						c.(793-795)CCA>CTA		protease inhibitor 16 precursor							100.0	92.0	95.0					6																	36930912		2203	4300	6503	SO:0001583	missense	221476					extracellular region|integral to membrane	peptidase inhibitor activity	g.chr6:36930912C>T		CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"""microseminoprotein, beta-binding protein"""		"""protease inhibitor 16"""				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.794C>T	6.37:g.36930912C>T	ENSP00000362778:p.Pro265Leu					PI16_uc003omz.1_Intron|PI16_uc003onb.2_Intron|PI16_uc011dts.1_Missense_Mutation_p.P36L	p.P265L	NM_153370	NP_699201	Q6UXB8	PI16_HUMAN			5	1122	+			265			Extracellular (Potential).		Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Missense_Mutation	SNP	ENST00000373674.3	37	c.794C>T	CCDS34440.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543819	0.65198	.	.	ENSG00000164530	ENST00000373674;ENST00000539035	T	0.09073	3.02	5.27	4.4	0.53042	.	0.277806	0.26293	N	0.025215	T	0.04137	0.0115	L	0.60455	1.87	0.48975	D	0.999737	B	0.20368	0.044	B	0.20384	0.029	T	0.08785	-1.0705	10	0.87932	D	0	.	6.8786	0.24160	0.172:0.7401:0.0:0.0879	.	265	Q6UXB8	PI16_HUMAN	L	265;117	ENSP00000362778:P265L	ENSP00000362778:P265L	P	+	2	0	PI16	37038890	0.452000	0.25713	0.617000	0.29091	0.840000	0.47671	1.798000	0.38814	1.448000	0.47680	0.655000	0.94253	CCA		0.577	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1	NM_153370		8	89	0	0	0	0	8	89				
ABCC10	89845	broad.mit.edu	37	6	43406408	43406408	+	Silent	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr6:43406408C>T	ENST00000372530.4	+	8	2217	c.2002C>T	c.(2002-2004)Ctg>Ttg	p.L668L	ABCC10_ENST00000244533.3_Silent_p.L640L	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	668	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GGGCTTTGGCCTGGCCACCCA	0.592																																						uc003ouy.1		NA																	0				ovary(6)|central_nervous_system(1)	7						c.(2002-2004)CTG>TTG		ATP-binding cassette, sub-family C, member 10							99.0	94.0	96.0					6																	43406408		2203	4300	6503	SO:0001819	synonymous_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43406408C>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.2002C>T	6.37:g.43406408C>T						ABCC10_uc003ouz.1_Silent_p.L640L|ABCC10_uc010jyo.1_5'UTR	p.L668L	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		8	2217	+	all_lung(25;0.00536)		668			ABC transporter 1.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	c.2002C>T	CCDS56430.1																																																																																				0.592	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		32	47	0	0	0	0	32	47				
KCNQ5	56479	broad.mit.edu	37	6	73904678	73904678	+	Silent	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr6:73904678C>T	ENST00000370398.1	+	14	2449	c.2340C>T	c.(2338-2340)gtC>gtT	p.V780V	KCNQ5_ENST00000355194.4_Silent_p.V780V|KCNQ5_ENST00000414165.2_Silent_p.V670V|KCNQ5_ENST00000342056.2_Silent_p.V799V|KCNQ5_ENST00000402622.2_Silent_p.V790V|KCNQ5_ENST00000403813.2_Silent_p.V771V|KCNQ5_ENST00000355635.3_Silent_p.V781V	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	780					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TTTCTGACGTCACCACCTGCC	0.507																																					GBM(142;1375 1859 14391 23261 44706)	uc003pgk.2		NA																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(2338-2340)GTC>GTT		potassium voltage-gated channel, KQT-like							117.0	101.0	106.0					6																	73904678		2203	4300	6503	SO:0001819	synonymous_variant	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73904678C>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.2340C>T	6.37:g.73904678C>T						KCNQ5_uc011dyh.1_Silent_p.V799V|KCNQ5_uc011dyi.1_Silent_p.V790V|KCNQ5_uc010kat.2_Silent_p.V771V|KCNQ5_uc011dyj.1_Silent_p.V670V|KCNQ5_uc011dyk.1_Silent_p.V530V	p.V780V	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	14	2687	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	780					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP	ENST00000370398.1	37	c.2340C>T	CCDS4976.1																																																																																				0.507	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		7	39	0	0	0	0	7	39				
MYO6	4646	broad.mit.edu	37	6	76602328	76602328	+	Missense_Mutation	SNP	C	C	T	rs148245729		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr6:76602328C>T	ENST00000369977.3	+	28	3167	c.3028C>T	c.(3028-3030)Cgg>Tgg	p.R1010W	MYO6_ENST00000369975.1_Missense_Mutation_p.R1010W|MYO6_ENST00000369981.3_Missense_Mutation_p.R1010W|MYO6_ENST00000369985.4_Missense_Mutation_p.R1010W	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	1010	Glu-rich.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GCGCAGGGACCGGGAGCTGGC	0.647																																						uc003pih.1		NA																	0				kidney(1)|pancreas(1)	2						c.(3028-3030)CGG>TGG		myosin VI		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	69.0	74.0	72.0		3028	1.7	1.0	6	dbSNP_134	72	0,8600		0,0,4300	no	missense	MYO6	NM_004999.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1010/1286	76602328	1,13005	2203	4300	6503	SO:0001583	missense	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76602328C>T	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.3028C>T	6.37:g.76602328C>T	ENSP00000358994:p.Arg1010Trp					MYO6_uc003pig.1_Missense_Mutation_p.R1010W|MYO6_uc003pii.1_Missense_Mutation_p.R1010W|MYO6_uc003pij.1_5'Flank	p.R1010W	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	28	3307	+		all_hematologic(105;0.189)	1010			Glu-rich.|Potential.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.3028C>T	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480177	0.63849	2.27E-4	0.0	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975;ENST00000430435	T;T;T;T;T	0.68181	2.16;2.5;2.57;-0.31;0.82	5.65	1.7	0.24286	.	0.055842	0.64402	D	0.000001	T	0.71745	0.3376	M	0.79475	2.455	0.51233	D	0.999917	P;D	0.89917	0.894;1.0	B;D	0.83275	0.406;0.996	T	0.73418	-0.3989	10	0.66056	D	0.02	.	9.1081	0.36710	0.3829:0.5506:0.0:0.0665	.	1010;1010	Q9UM54-2;Q9UM54-1	.;.	W	1010;1010;1010;1010;1010;73	ENSP00000358998:R1010W;ENSP00000359002:R1010W;ENSP00000358994:R1010W;ENSP00000358992:R1010W;ENSP00000399406:R73W	ENSP00000358992:R1010W	R	+	1	2	MYO6	76659048	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.419000	0.44671	0.275000	0.22094	0.491000	0.48974	CGG		0.647	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		23	19	0	0	0	0	23	19				
SYNE1	23345	broad.mit.edu	37	6	152639352	152639352	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr6:152639352A>T	ENST00000367255.5	-	86	17037	c.16436T>A	c.(16435-16437)tTa>tAa	p.L5479*	SYNE1_ENST00000448038.1_Nonsense_Mutation_p.L5408*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.L5479*|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.L5408*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.L3*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5479					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCTGCATCTAATTCCATTAA	0.403										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(16435-16437)TTA>TAA		spectrin repeat containing, nuclear envelope 1							143.0	128.0	133.0					6																	152639352		2203	4300	6503	SO:0001587	stop_gained	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152639352A>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16436T>A	6.37:g.152639352A>T	ENSP00000356224:p.Leu5479*	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Nonsense_Mutation_p.L3*|SYNE1_uc003qos.3_Nonsense_Mutation_p.L3*|SYNE1_uc003qot.3_Nonsense_Mutation_p.L5408*|SYNE1_uc003qou.3_Nonsense_Mutation_p.L5479*|SYNE1_uc010kiz.2_Nonsense_Mutation_p.L1234*	p.L5479*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	86	17038	-		Ovarian(120;0.0955)	5479			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.16436T>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	38	6.925315	0.97940	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000356820	.	.	.	5.76	5.76	0.90799	.	0.000000	0.48286	D	0.000190	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0676	0.80897	1.0:0.0:0.0:0.0	.	.	.	.	X	5479;5408;5479;5408;3	.	ENSP00000265368:L5479X	L	-	2	0	SYNE1	152681045	1.000000	0.71417	0.936000	0.37596	0.996000	0.88848	8.344000	0.90055	2.201000	0.70794	0.533000	0.62120	TTA		0.403	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		27	19	0	0	0	0	27	19				
GLCCI1	113263	broad.mit.edu	37	7	8125840	8125840	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr7:8125840C>T	ENST00000223145.5	+	8	1873	c.1316C>T	c.(1315-1317)tCg>tTg	p.S439L		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	439						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CAGCCTATCTCGGCCCCTCTC	0.388																																						uc003srk.2		NA																	0					0						c.(1315-1317)TCG>TTG		glucocorticoid induced transcript 1							103.0	116.0	111.0					7																	8125840		2203	4300	6503	SO:0001583	missense	113263							g.chr7:8125840C>T	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1316C>T	7.37:g.8125840C>T	ENSP00000223145:p.Ser439Leu						p.S439L	NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	8	1875	+		Ovarian(82;0.0608)	439					A4D103|Q96FD0	Missense_Mutation	SNP	ENST00000223145.5	37	c.1316C>T	CCDS34601.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332293	0.60853	.	.	ENSG00000106415	ENST00000223145	.	.	.	4.99	4.99	0.66335	.	0.419415	0.26407	N	0.024552	T	0.45377	0.1339	L	0.38531	1.155	0.58432	D	0.999997	D	0.56287	0.975	B	0.41946	0.371	T	0.34675	-0.9819	9	0.24483	T	0.36	-19.1503	18.8545	0.92246	0.0:1.0:0.0:0.0	.	439	Q86VQ1	GLCI1_HUMAN	L	439	.	ENSP00000223145:S439L	S	+	2	0	GLCCI1	8092365	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.409000	0.66374	2.760000	0.94817	0.655000	0.94253	TCG		0.388	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		13	221	0	0	0	0	13	221				
DNAH11	8701	broad.mit.edu	37	7	21627788	21627788	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr7:21627788G>A	ENST00000409508.3	+	10	1848	c.1817G>A	c.(1816-1818)tGt>tAt	p.C606Y	DNAH11_ENST00000328843.6_Missense_Mutation_p.C606Y	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	606	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTGGATGTGTGTAAGCAACTG	0.368									Kartagener syndrome																													uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(1816-1818)TGT>TAT		dynein, axonemal, heavy chain 11							105.0	102.0	103.0					7																	21627788		1895	4124	6019	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21627788G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.1817G>A	7.37:g.21627788G>A	ENSP00000475939:p.Cys606Tyr						p.C606Y	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			10	1848	+			606			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.1817G>A		.	.	.	.	.	.	.	.	.	.	G	15.76	2.929427	0.52759	.	.	ENSG00000105877	ENST00000328843	T	0.54866	0.55	5.87	5.87	0.94306	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.75882	0.3910	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.77247	-0.2658	9	0.87932	D	0	.	19.3531	0.94398	0.0:0.0:1.0:0.0	.	606	Q96DT5	DYH11_HUMAN	Y	606	ENSP00000330671:C606Y	ENSP00000330671:C606Y	C	+	2	0	DNAH11	21594313	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	5.269000	0.65542	2.941000	0.99782	0.655000	0.94253	TGT		0.368	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		5	37	0	0	0	0	5	37				
URGCP	55665	broad.mit.edu	37	7	43918683	43918683	+	Missense_Mutation	SNP	C	C	A	rs369639108		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr7:43918683C>A	ENST00000453200.1	-	6	872	c.379G>T	c.(379-381)Gct>Tct	p.A127S	URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Missense_Mutation_p.A84S|URGCP_ENST00000447717.3_Missense_Mutation_p.A84S|URGCP_ENST00000402306.3_Missense_Mutation_p.A118S|URGCP_ENST00000336086.6_Missense_Mutation_p.A84S|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_Missense_Mutation_p.A84S			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	127					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGGCATCAGCATTGAGGGCC	0.547																																						uc003tiw.2		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(379-381)GCT>TCT		up-regulated gene 4 isoform 3							82.0	86.0	85.0					7																	43918683		1962	4149	6111	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43918683C>A		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.379G>T	7.37:g.43918683C>A	ENSP00000396918:p.Ala127Ser					URGCP_uc003tiu.2_Missense_Mutation_p.A84S|URGCP_uc003tiv.2_Missense_Mutation_p.A52S|URGCP_uc003tix.2_Missense_Mutation_p.A118S|URGCP_uc003tiy.2_Missense_Mutation_p.A84S|URGCP_uc003tiz.2_Missense_Mutation_p.A84S|URGCP_uc011kbj.1_Missense_Mutation_p.A84S	p.A127S	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN			6	436	-			127					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.379G>T	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	C	4.062	0.009264	0.07912	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717;ENST00000426198;ENST00000455877	T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.6	1.31	0.21738	.	0.821174	0.11177	N	0.591433	T	0.23014	0.0556	L	0.27053	0.805	0.09310	N	1	B;B	0.16802	0.019;0.019	B;B	0.15484	0.013;0.013	T	0.29640	-1.0005	10	0.07325	T	0.83	-7.5021	5.2865	0.15704	0.1539:0.5849:0.0:0.2611	.	118;127	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	S	84;84;118;84;127;84;84;84	ENSP00000223341:A84S;ENSP00000336872:A84S;ENSP00000384955:A118S;ENSP00000392136:A84S;ENSP00000396918:A127S;ENSP00000402803:A84S;ENSP00000389990:A84S	ENSP00000223341:A84S	A	-	1	0	URGCP	43885208	0.000000	0.05858	0.023000	0.16930	0.932000	0.56968	-0.346000	0.07760	0.323000	0.23307	0.655000	0.94253	GCT		0.547	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		40	70	1	0	4.05e-12	4.7e-12	40	70				
GCK	2645	broad.mit.edu	37	7	44187278	44187278	+	Silent	SNP	G	G	A	rs200071687		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr7:44187278G>A	ENST00000403799.3	-	7	1303	c.834C>T	c.(832-834)gaC>gaT	p.D278D	GCK_ENST00000395796.3_Silent_p.D277D|GCK_ENST00000345378.2_Silent_p.D279D|GCK_ENST00000437084.1_Silent_p.D261D	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	278	Hexokinase type-2.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CAGAGCTCTCGTCCACCAGGC	0.687													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15925	0.0		0.0	False		,,,				2504	0.0					uc003tkl.2		NA																	0				skin(3)|lung(1)	4	GRCh37	CM032916	GCK	M		c.(832-834)GAC>GAT		glucokinase isoform 1							64.0	66.0	65.0					7																	44187278		2203	4300	6503	SO:0001819	synonymous_variant	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44187278G>A	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.834C>T	7.37:g.44187278G>A						GCK_uc003tkh.1_5'Flank|GCK_uc003tki.1_5'Flank|GCK_uc003tkj.1_Silent_p.D277D|GCK_uc003tkk.1_Silent_p.D279D	p.D278D	NM_000162	NP_000153	P35557	HXK4_HUMAN			7	1304	-			278					A4D2J2|A4D2J3|Q05810	Silent	SNP	ENST00000403799.3	37	c.834C>T	CCDS5479.1																																																																																				0.687	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2			36	38	0	0	0	0	36	38				
ZNF716	441234	broad.mit.edu	37	7	57522865	57522865	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr7:57522865A>C	ENST00000420713.1	+	3	365	c.253A>C	c.(253-255)Aaa>Caa	p.K85Q		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	85	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						GATGGTAGCCAAACACCCAGG	0.443																																						uc011kdi.1		NA																	0				ovary(2)	2						c.(253-255)AAA>CAA		zinc finger protein 716							90.0	72.0	77.0					7																	57522865		692	1591	2283	SO:0001583	missense	441234							g.chr7:57522865A>C	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.253A>C	7.37:g.57522865A>C	ENSP00000394248:p.Lys85Gln						p.K85Q	NM_001159279	NP_001152751					3	365	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.253A>C	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.813887	0.50527	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.05139	3.49	0.793	0.793	0.18632	Krueppel-associated box (1);	.	.	.	.	T	0.09992	0.0245	N	0.24115	0.695	0.21147	N	0.999774	D	0.71674	0.998	D	0.76071	0.987	T	0.29336	-1.0015	9	0.44086	T	0.13	.	3.8266	0.08856	1.0:0.0:0.0:0.0	.	73	A6NP11	ZN716_HUMAN	Q	85;73	ENSP00000394248:K85Q	ENSP00000387687:K73Q	K	+	1	0	ZNF716	57526807	0.000000	0.05858	0.736000	0.30914	0.740000	0.42216	-0.320000	0.08028	0.243000	0.21327	0.240000	0.17902	AAA		0.443	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		7	113	0	0	0	0	7	113				
BAZ1B	9031	broad.mit.edu	37	7	72856543	72856543	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr7:72856543G>A	ENST00000339594.4	-	19	4773	c.4435C>T	c.(4435-4437)Cga>Tga	p.R1479*	BAZ1B_ENST00000404251.1_Nonsense_Mutation_p.R1479*	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1479					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCTGTCTTCGTCCCCTGGAC	0.597																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	uc003tyc.2		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7						c.(4435-4437)CGA>TGA		bromodomain adjacent to zinc finger domain, 1B							145.0	148.0	147.0					7																	72856543		2203	4300	6503	SO:0001587	stop_gained	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72856543G>A	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.4435C>T	7.37:g.72856543G>A	ENSP00000342434:p.Arg1479*						p.R1479*	NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN			19	4780	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	1479					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Nonsense_Mutation	SNP	ENST00000339594.4	37	c.4435C>T	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	G	45	11.725945	0.99596	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	.	.	.	5.51	5.51	0.81932	.	0.140854	0.44285	D	0.000474	.	.	.	.	.	.	0.46222	D	0.998935	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0207	18.3973	0.90502	0.0:0.0:1.0:0.0	.	.	.	.	X	1479	.	ENSP00000342434:R1479X	R	-	1	2	BAZ1B	72494479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.143000	0.58051	2.575000	0.86900	0.643000	0.83706	CGA		0.597	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		8	187	0	0	0	0	8	187				
CYP3A5	1577	broad.mit.edu	37	7	99264261	99264261	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr7:99264261G>A	ENST00000222982.4	-	6	583	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	CYP3A5_ENST00000343703.5_Missense_Mutation_p.R152W|CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000480723.1_5'Flank	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	162					alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TCTGCTTCCCGCCTCAAGTTT	0.493																																						uc003urq.2		NA																	0					0						c.(484-486)CGG>TGG		cytochrome P450, family 3, subfamily A,	Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541)						170.0	146.0	154.0					7																	99264261		2203	4300	6503	SO:0001583	missense	1577				alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99264261G>A	L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"""Cytochrome P450s"""	2638	protein-coding gene	gene with protein product		605325	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"""				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.484C>T	7.37:g.99264261G>A	ENSP00000222982:p.Arg162Trp					ZNF498_uc003urn.2_Intron|CYP3A5_uc003urp.2_Intron|CYP3A5_uc003urr.2_Missense_Mutation_p.R49W|CYP3A5_uc011kiy.1_Missense_Mutation_p.R152W|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	p.R162W	NM_000777	NP_000768	P20815	CP3A5_HUMAN			6	571	-	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)		162					A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Missense_Mutation	SNP	ENST00000222982.4	37	c.484C>T	CCDS5672.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794591	0.50102	.	.	ENSG00000106258	ENST00000222982;ENST00000343703	T;T	0.69561	-0.41;-0.41	3.74	1.57	0.23409	.	0.403906	0.29015	N	0.013419	T	0.72399	0.3455	M	0.86864	2.845	0.24747	N	0.993005	D;D	0.71674	0.998;0.997	P;P	0.51385	0.539;0.668	T	0.65821	-0.6075	10	0.87932	D	0	.	5.2711	0.15624	0.0:0.1406:0.3115:0.5479	.	152;162	F5H4S0;P20815	.;CP3A5_HUMAN	W	162;152	ENSP00000222982:R162W;ENSP00000342969:R152W	ENSP00000222982:R162W	R	-	1	2	CYP3A5	99102197	0.093000	0.21703	0.052000	0.19188	0.779000	0.44077	1.608000	0.36847	0.148000	0.19059	0.655000	0.94253	CGG		0.493	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1			11	191	0	0	0	0	11	191				
TES	26136	broad.mit.edu	37	7	115892374	115892374	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr7:115892374G>A	ENST00000358204.4	+	6	1136	c.921G>A	c.(919-921)ctG>ctA	p.L307L	TES_ENST00000393481.2_Silent_p.L298L|AC073130.3_ENST00000444244.1_RNA|AC002066.1_ENST00000446355.2_RNA|TES_ENST00000537767.1_Silent_p.L65L	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	307	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			CTTCCTAGCTGATATTCAGCA	0.348																																						uc003vho.2		NA																	0					0						c.(919-921)CTG>CTA		testin isoform 1							58.0	57.0	57.0					7																	115892374		2203	4300	6503	SO:0001819	synonymous_variant	26136				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding	g.chr7:115892374G>A	AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.921G>A	7.37:g.115892374G>A						TES_uc011kmy.1_Silent_p.L65L|TES_uc003vhp.2_Silent_p.L298L|uc003vhq.1_5'Flank	p.L307L	NM_015641	NP_056456	Q9UGI8	TES_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		6	1102	+	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	307			LIM zinc-binding 2.		A4D0U6|Q9GZQ1|Q9HAJ9	Silent	SNP	ENST00000358204.4	37	c.921G>A	CCDS5763.1																																																																																				0.348	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059413.2	NM_015641		8	58	0	0	0	0	8	58				
PTPRZ1	5803	broad.mit.edu	37	7	121616905	121616905	+	Splice_Site	SNP	G	G	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr7:121616905G>T	ENST00000393386.2	+	6	1030	c.619G>T	c.(619-621)Ggg>Tgg	p.G207W	PTPRZ1_ENST00000449182.1_Splice_Site_p.G207W	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	207	Alpha-carbonic anhydrase.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TAGTCGTTTTGGTAAGCTACT	0.353																																						uc003vjy.2		NA																	0				ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(619-621)GGG>TGG		protein tyrosine phosphatase, receptor-type,							165.0	161.0	162.0					7																	121616905		2203	4300	6503	SO:0001630	splice_region_variant	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121616905G>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.619+1G>T	7.37:g.121616905G>T						PTPRZ1_uc003vjz.2_Missense_Mutation_p.G207W	p.G207W	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			6	1014	+			207			Extracellular (Potential).|Alpha-carbonic anhydrase.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.619G>T	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863144	0.91511	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.59638	0.25;0.25	5.77	5.77	0.91146	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.64402	D	0.000001	T	0.81922	0.4925	M	0.90650	3.135	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84681	0.0717	10	0.72032	D	0.01	.	19.981	0.97324	0.0:0.0:1.0:0.0	.	207;207	C9JFM0;P23471	.;PTPRZ_HUMAN	W	207	ENSP00000377047:G207W;ENSP00000410000:G207W	ENSP00000377047:G207W	G	+	1	0	PTPRZ1	121404141	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.509000	0.90529	2.723000	0.93209	0.543000	0.68304	GGG		0.353	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851	Missense_Mutation	7	57	1	0	1.13e-05	1.24e-05	7	57				
KMT2C	58508	broad.mit.edu	37	7	151874275	151874275	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr7:151874275C>G	ENST00000262189.6	-	38	8481	c.8263G>C	c.(8263-8265)Gat>Cat	p.D2755H	KMT2C_ENST00000355193.2_Missense_Mutation_p.D2755H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2755	Asp-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GCAATGATATCAAACTCTCCT	0.358																																						uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(8263-8265)GAT>CAT		myeloid/lymphoid or mixed-lineage leukemia 3							111.0	111.0	111.0					7																	151874275		2203	4299	6502	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151874275C>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8263G>C	7.37:g.151874275C>G	ENSP00000262189:p.Asp2755His					MLL3_uc003wkz.2_Missense_Mutation_p.D1816H|MLL3_uc003wky.2_Missense_Mutation_p.D264H	p.D2755H	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	38	8482	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	2755			Asp-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.8263G>C	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.82|16.82	3.229764|3.229764	0.58777|0.58777	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000360104	D;D|.	0.96011|.	-3.88;-3.82|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.000000|.	0.47852|.	D|.	0.000217|.	T|.	0.78240|.	0.4252|.	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.998;0.999;0.999|.	T|.	0.77705|.	-0.2488|.	10|.	0.87932|.	D|.	0|.	.|.	19.4777|19.4777	0.94995|0.94995	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2755;1816;2755|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	H|S	2755|260	ENSP00000262189:D2755H;ENSP00000347325:D2755H|.	ENSP00000262189:D2755H|.	D|X	-|-	1|2	0|2	MLL3|MLL3	151505208|151505208	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.592000|2.592000	0.87571|0.87571	0.650000|0.650000	0.86243|0.86243	GAT|TGA		0.358	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			9	64	0	0	0	0	9	64				
C8orf58	541565	broad.mit.edu	37	8	22460089	22460089	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr8:22460089A>G	ENST00000289989.5	+	6	993	c.919A>G	c.(919-921)Aac>Gac	p.N307D	C8orf58_ENST00000409586.3_Missense_Mutation_p.N299D|CCAR2_ENST00000389279.3_5'Flank|CCAR2_ENST00000521301.1_5'Flank|CCAR2_ENST00000308511.4_5'Flank			Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	307										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GGTCCTGCTCAACCGGATCTG	0.662																																						uc003xce.2		NA																	0				skin(1)	1						c.(919-921)AAC>GAC		hypothetical protein LOC541565							76.0	74.0	75.0					8																	22460089		2203	4300	6503	SO:0001583	missense	541565							g.chr8:22460089A>G	BC012750	CCDS34862.1, CCDS56527.1, CCDS75708.1	8p21.3	2010-08-17			ENSG00000241852	ENSG00000241852			32233	protein-coding gene	gene with protein product							Standard	NM_001013842		Approved	FLJ34715	uc003xce.3	Q8NAV2	OTTHUMG00000154160	ENST00000289989.5:c.919A>G	8.37:g.22460089A>G	ENSP00000289989:p.Asn307Asp					C8orf58_uc011kzl.1_Missense_Mutation_p.N299D|C8orf58_uc003xcf.2_Intron|KIAA1967_uc003xch.2_5'Flank|KIAA1967_uc003xci.2_5'Flank	p.N307D	NM_001013842	NP_001013864	Q8NAV2	CH058_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	6	1031	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	307					B4DI44	Missense_Mutation	SNP	ENST00000289989.5	37	c.919A>G	CCDS34862.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.7|23.7	4.450659|4.450659	0.84101|0.84101	.|.	.|.	ENSG00000241852|ENSG00000241852	ENST00000409586;ENST00000289989;ENST00000381191|ENST00000495957	.|.	.|.	.|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.128250|.	0.35436|.	N|.	0.003216|.	T|T	0.62804|0.62804	0.2458|0.2458	M|M	0.70595|0.70595	2.14|2.14	0.32450|0.32450	N|N	0.545562|0.545562	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.85130|.	0.997;0.997|.	T|T	0.71810|0.71810	-0.4480|-0.4480	9|5	0.59425|.	D|.	0.04|.	-12.8371|-12.8371	12.0334|12.0334	0.53410|0.53410	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	299;307|.	Q8NAV2-2;Q8NAV2|.	.;CH058_HUMAN|.	D|R	299;307;235|152	.|.	ENSP00000289989:N307D|.	N|Q	+|+	1|2	0|0	C8orf58|C8orf58	22516034|22516034	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.861000|0.861000	0.49209|0.49209	4.694000|4.694000	0.61760|0.61760	2.093000|2.093000	0.63338|0.63338	0.368000|0.368000	0.22195|0.22195	AAC|CAA		0.662	C8orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334183.1	NM_001013842		12	27	0	0	0	0	12	27				
EPHX2	2053	broad.mit.edu	37	8	27401308	27401308	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr8:27401308G>A	ENST00000521400.1	+	17	1922	c.1492G>A	c.(1492-1494)Gtg>Atg	p.V498M	EPHX2_ENST00000517536.1_Missense_Mutation_p.V315M|EPHX2_ENST00000518379.1_Missense_Mutation_p.V466M|EPHX2_ENST00000380476.3_Missense_Mutation_p.V445M|EPHX2_ENST00000521780.1_Missense_Mutation_p.V432M	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	498	Epoxide hydrolase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		GAAGGACTTCGTGCTCGTTCC	0.612																																						uc003xfu.2		NA																	0				ovary(1)	1						c.(1492-1494)GTG>ATG		epoxide hydrolase 2, cytoplasmic	Tamoxifen(DB00675)						106.0	89.0	94.0					8																	27401308		2203	4300	6503	SO:0001583	missense	2053				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	g.chr8:27401308G>A	L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.1492G>A	8.37:g.27401308G>A	ENSP00000430269:p.Val498Met					EPHX2_uc010luu.2_Missense_Mutation_p.V466M|EPHX2_uc010luv.2_Missense_Mutation_p.V432M|EPHX2_uc003xfv.2_Missense_Mutation_p.V445M|EPHX2_uc010luw.2_Missense_Mutation_p.V432M	p.V498M	NM_001979	NP_001970	P34913	HYES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	17	1573	+		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)	498			Epoxide hydrolase.		B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Missense_Mutation	SNP	ENST00000521400.1	37	c.1492G>A	CCDS6060.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712620	0.48517	.	.	ENSG00000120915	ENST00000521400;ENST00000517536;ENST00000521780;ENST00000380476;ENST00000415449;ENST00000518379	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	5.15	4.26	0.50523	Alpha/beta hydrolase fold-1 (1);	0.060811	0.64402	D	0.000004	T	0.81688	0.4875	M	0.94021	3.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.84379	0.0548	10	0.87932	D	0	0.5165	8.916	0.35581	0.1001:0.0:0.8999:0.0	.	466;498	E5RFU2;P34913	.;HYES_HUMAN	M	498;315;432;445;445;466	ENSP00000430269:V498M;ENSP00000428875:V315M;ENSP00000430302:V432M;ENSP00000369843:V445M;ENSP00000427956:V466M	ENSP00000369843:V445M	V	+	1	0	EPHX2	27457225	1.000000	0.71417	0.899000	0.35326	0.213000	0.24496	3.733000	0.55029	2.571000	0.86741	0.561000	0.74099	GTG		0.612	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4			6	54	0	0	0	0	6	54				
ELP3	55140	broad.mit.edu	37	8	27964292	27964292	+	Silent	SNP	T	T	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr8:27964292T>C	ENST00000256398.8	+	4	698	c.321T>C	c.(319-321)aaT>aaC	p.N107N	ELP3_ENST00000521015.1_Silent_p.N93N|ELP3_ENST00000524103.1_Silent_p.N35N|ELP3_ENST00000380353.4_Silent_p.N15N|ELP3_ENST00000542181.1_5'UTR|ELP3_ENST00000523760.1_3'UTR|ELP3_ENST00000537665.1_Missense_Mutation_p.Y10H	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	107					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		TTACAGGAAATATATGTGTGT	0.343																																						uc003xgo.3		NA																	0					0						c.(319-321)AAT>AAC		elongation protein 3 homolog							102.0	99.0	100.0					8																	27964292		2203	4300	6503	SO:0001819	synonymous_variant	55140				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding	g.chr8:27964292T>C		CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Elongator acetyltransferase complex subunits"""	20696	protein-coding gene	gene with protein product		612722	"""elongation protein 3 homolog (S. cerevisiae)"""			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.321T>C	8.37:g.27964292T>C						ELP3_uc003xgn.3_Silent_p.N92N|ELP3_uc011laq.1_Silent_p.N35N|ELP3_uc011lar.1_Silent_p.N15N|ELP3_uc011las.1_Missense_Mutation_p.Y10H|ELP3_uc011lat.1_Missense_Mutation_p.Y10H	p.N107N	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)	4	469	+		Ovarian(32;0.0218)	107					B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Silent	SNP	ENST00000256398.8	37	c.321T>C	CCDS6065.1	.	.	.	.	.	.	.	.	.	.	T	14.91	2.677439	0.47886	.	.	ENSG00000134014	ENST00000537665	.	.	.	5.62	-2.23	0.06930	.	.	.	.	.	T	0.49253	0.1546	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35649	-0.9780	7	0.49607	T	0.09	-30.4996	11.7439	0.51809	0.0:0.5649:0.0:0.4351	.	10	B4DE19	.	H	10	.	ENSP00000445558:Y10H	Y	+	1	0	ELP3	28020211	1.000000	0.71417	0.993000	0.49108	0.972000	0.66771	1.900000	0.39828	-0.299000	0.08909	-0.911000	0.02809	TAT		0.343	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	NM_018091		24	48	0	0	0	0	24	48				
PKHD1L1	93035	broad.mit.edu	37	8	110476920	110476920	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr8:110476920G>T	ENST00000378402.5	+	49	7963	c.7859G>T	c.(7858-7860)gGt>gTt	p.G2620V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2620					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CATTCTCAAGGTTGGTTTGGA	0.418										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(7858-7860)GGT>GTT		fibrocystin L precursor							134.0	132.0	132.0					8																	110476920		1862	4101	5963	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110476920G>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7859G>T	8.37:g.110476920G>T	ENSP00000367655:p.Gly2620Val	HNSCC(38;0.096)					p.G2620V	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	7963	+			2620			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.7859G>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131462	0.77549	.	.	ENSG00000205038	ENST00000378402	T	0.78816	-1.21	5.79	5.79	0.91817	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	D	0.89072	0.6611	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.90047	0.4146	10	0.87932	D	0	.	17.516	0.87773	0.0:0.0:1.0:0.0	.	2620	Q86WI1	PKHL1_HUMAN	V	2620	ENSP00000367655:G2620V	ENSP00000367655:G2620V	G	+	2	0	PKHD1L1	110546096	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.071000	0.89494	2.726000	0.93360	0.655000	0.94253	GGT		0.418	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		112	133	1	0	2.56e-62	3.07e-62	112	133				
MED30	90390	broad.mit.edu	37	8	118552171	118552171	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr8:118552171G>A	ENST00000297347.3	+	4	655	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	MED30_ENST00000522839.1_Missense_Mutation_p.R129Q	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	164					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			GATCAATTACGAAATCTCATC	0.318																																					Melanoma(81;817 1341 9674 26244 29255)	uc003yoj.2		NA																	0					0						c.(490-492)CGA>CAA		TRAP/Mediator complex component TRAP25							65.0	65.0	65.0					8																	118552171		2203	4297	6500	SO:0001583	missense	90390				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr8:118552171G>A	AY083305	CCDS6323.1, CCDS64959.1	8q24.11	2007-07-30	2007-07-30	2007-07-30	ENSG00000164758	ENSG00000164758			23032	protein-coding gene	gene with protein product		610237	"""thyroid hormone receptor associated protein 6"""	THRAP6			Standard	NM_080651		Approved	TRAP25	uc003yoj.3	Q96HR3	OTTHUMG00000164920	ENST00000297347.3:c.491G>A	8.37:g.118552171G>A	ENSP00000297347:p.Arg164Gln					MED30_uc011lib.1_Missense_Mutation_p.R129Q	p.R164Q	NM_080651	NP_542382	Q96HR3	MED30_HUMAN	STAD - Stomach adenocarcinoma(47;0.0266)		4	642	+	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		164			Potential.		C6GKU9	Missense_Mutation	SNP	ENST00000297347.3	37	c.491G>A	CCDS6323.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360277	0.95877	.	.	ENSG00000164758	ENST00000297347;ENST00000522839	.	.	.	5.89	5.89	0.94794	Mediator complex, subunit Med30, metazoa (1);	0.117883	0.53938	D	0.000055	T	0.80019	0.4547	M	0.73962	2.25	0.80722	D	1	B;D	0.89917	0.008;1.0	B;D	0.78314	0.004;0.991	T	0.80388	-0.1403	9	0.62326	D	0.03	-4.2686	18.8398	0.92177	0.0:0.0:1.0:0.0	.	129;164	C6GKU9;Q96HR3	.;MED30_HUMAN	Q	164;129	.	ENSP00000297347:R164Q	R	+	2	0	MED30	118621352	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.279000	0.95777	2.793000	0.96121	0.655000	0.94253	CGA		0.318	MED30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380923.1	NM_080651		4	41	0	0	0	0	4	41				
KCNQ3	3786	broad.mit.edu	37	8	133150233	133150233	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr8:133150233T>A	ENST00000388996.4	-	12	2019	c.1599A>T	c.(1597-1599)aaA>aaT	p.K533N	KCNQ3_ENST00000521134.1_Missense_Mutation_p.K413N|KCNQ3_ENST00000519445.1_Missense_Mutation_p.K533N	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	533					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCTCCTTGAATTTTTTTTTAT	0.453																																						uc003ytj.2		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(1597-1599)AAA>AAT		potassium voltage-gated channel KQT-like protein							103.0	101.0	102.0					8																	133150233		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133150233T>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1599A>T	8.37:g.133150233T>A	ENSP00000373648:p.Lys533Asn					KCNQ3_uc010mdt.2_Missense_Mutation_p.K533N	p.K533N	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		12	1824	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		533					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.1599A>T	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	T	17.84	3.488133	0.64074	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99867	-7.31;-7.31;-7.31	5.46	-5.87	0.02297	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.170858	0.48767	D	0.000176	D	0.99426	0.9797	L	0.51914	1.62	0.40093	D	0.976279	D;D	0.54772	0.968;0.968	P;P	0.53224	0.721;0.721	D	0.97794	1.0240	10	0.87932	D	0	-17.1484	13.9654	0.64205	0.0:0.4798:0.0:0.5202	.	533;533	E7ET42;O43525	.;KCNQ3_HUMAN	N	533;413;533;522;412	ENSP00000373648:K533N;ENSP00000429799:K413N;ENSP00000428790:K533N	ENSP00000373648:K533N	K	-	3	2	KCNQ3	133219415	0.116000	0.22171	0.897000	0.35233	0.998000	0.95712	-0.567000	0.05916	-1.079000	0.03113	0.533000	0.62120	AAA		0.453	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		55	107	0	0	0	0	55	107				
COL22A1	169044	broad.mit.edu	37	8	139601575	139601575	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr8:139601575G>A	ENST00000303045.6	-	65	5248	c.4802C>T	c.(4801-4803)cCc>cTc	p.P1601L	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1581L|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1601	Collagen-like 16.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTGGCCTGGGGGACCGGGAGG	0.617										HNSCC(7;0.00092)																												uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(4801-4803)CCC>CTC		collagen, type XXII, alpha 1							50.0	47.0	48.0					8																	139601575		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139601575G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4802C>T	8.37:g.139601575G>A	ENSP00000303153:p.Pro1601Leu	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.P881L	p.P1601L	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		65	5249	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1601			Pro-rich.|Gly-rich.|Collagen-like 16.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4802C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426623	0.43020	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93366	-3.21;-3.21	5.52	5.52	0.82312	.	0.136311	0.33534	N	0.004812	D	0.94918	0.8357	M	0.62016	1.91	0.58432	D	0.999999	B;D	0.71674	0.196;0.998	B;D	0.69824	0.21;0.966	D	0.92027	0.5630	10	0.12103	T	0.63	.	13.7236	0.62745	0.0:0.0:0.8462:0.1538	.	1581;1601	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	L	1601;1581;1294	ENSP00000303153:P1601L;ENSP00000387655:P1581L	ENSP00000303153:P1601L	P	-	2	0	COL22A1	139670757	1.000000	0.71417	0.997000	0.53966	0.193000	0.23685	5.890000	0.69774	2.752000	0.94435	0.655000	0.94253	CCC		0.617	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		8	39	0	0	0	0	8	39				
IFNA6	3443	broad.mit.edu	37	9	21350758	21350758	+	Silent	SNP	T	T	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr9:21350758T>C	ENST00000380210.1	-	1	619	c.129A>G	c.(127-129)caA>caG	p.Q43Q		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	43					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TTCTCCTCATTTGTGCCAGGA	0.537																																						uc011lni.1		NA																	0					0						c.(127-129)CAA>CAG		interferon, alpha 6 precursor							105.0	105.0	105.0					9																	21350758		2203	4300	6503	SO:0001819	synonymous_variant	3443				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21350758T>C		CCDS6504.1	9p22	2010-12-10			ENSG00000120235	ENSG00000120235		"""Interferons"""	5427	protein-coding gene	gene with protein product		147566				1385305	Standard	NM_021002		Approved	IFN-alphaK	uc011lni.2	P05013	OTTHUMG00000019676	ENST00000380210.1:c.129A>G	9.37:g.21350758T>C							p.Q43Q	NM_021002	NP_066282	P05013	IFNA6_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	129	-			43					Q5VYQ1	Silent	SNP	ENST00000380210.1	37	c.129A>G	CCDS6504.1																																																																																				0.537	IFNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051905.1	NM_021002		67	30	0	0	0	0	67	30				
POLR1E	64425	broad.mit.edu	37	9	37486777	37486777	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr9:37486777C>T	ENST00000377798.4	+	2	267	c.154C>T	c.(154-156)Ccc>Tcc	p.P52S	POLR1E_ENST00000442009.2_5'UTR|POLR1E_ENST00000377792.3_Missense_Mutation_p.P114S	NM_022490.1	NP_071935.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	0					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		TTCCACCAACCCCAGGAAGAG	0.537																																					Ovarian(116;843 1620 18506 32459 34463)	uc003zzz.1		NA																	0					0						c.(340-342)CCC>TCC		RNA polymerase I associated factor 53							126.0	113.0	117.0					9																	37486777		2203	4300	6503	SO:0001583	missense	64425				rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr9:37486777C>T	AK091294	CCDS6611.1	9p13.1	2013-01-21	2006-03-09	2006-03-09	ENSG00000137054	ENSG00000137054		"""RNA polymerase subunits"""	17631	protein-coding gene	gene with protein product	"""RNA polymerase I associated factor 53"""		"""polymerase (RNA) I associated factor 1"""	PRAF1		8641287	Standard	XM_005251547		Approved	FLJ13390, PAF53, FLJ13970	uc003zzy.1	Q9GZS1	OTTHUMG00000019920	ENST00000377798.4:c.154C>T	9.37:g.37486777C>T	ENSP00000367029:p.Pro52Ser					POLR1E_uc011lqj.1_Missense_Mutation_p.P52S|POLR1E_uc003zzy.1_Missense_Mutation_p.P52S|POLR1E_uc011lqk.1_5'UTR	p.P114S	NM_022490	NP_071935	Q9GZS1	RPA49_HUMAN		GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)	1	628	+			114					O75395|Q5JTE3	Missense_Mutation	SNP	ENST00000377798.4	37	c.340C>T	CCDS6611.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272516	0.80580	.	.	ENSG00000137054	ENST00000377798;ENST00000421959;ENST00000377792	T;T	0.21543	2.0;2.0	5.34	5.34	0.76211	.	0.051883	0.85682	D	0.000000	T	0.44726	0.1307	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.99;1.0	T	0.18304	-1.0341	10	0.20046	T	0.44	-20.4635	16.5447	0.84426	0.0:1.0:0.0:0.0	.	52;114;52	B4DW33;Q9GZS1;Q9GZS1-2	.;RPA49_HUMAN;.	S	52;52;114	ENSP00000367029:P52S;ENSP00000367023:P114S	ENSP00000367023:P114S	P	+	1	0	POLR1E	37476777	1.000000	0.71417	0.999000	0.59377	0.527000	0.34593	6.102000	0.71486	2.510000	0.84645	0.555000	0.69702	CCC		0.537	POLR1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052464.1	NM_022490		6	47	0	0	0	0	6	47				
CORO2A	7464	broad.mit.edu	37	9	100899882	100899882	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr9:100899882T>A	ENST00000343933.5	-	3	547	c.290A>T	c.(289-291)gAg>gTg	p.E97V	CORO2A_ENST00000375077.4_Missense_Mutation_p.E97V	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	97					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GGAGGCGATCTCAAAATCATC	0.542																																						uc004ayl.2		NA																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(289-291)GAG>GTG		coronin, actin binding protein, 2A							133.0	128.0	130.0					9																	100899882		2203	4300	6503	SO:0001583	missense	7464				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	g.chr9:100899882T>A	U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.290A>T	9.37:g.100899882T>A	ENSP00000343746:p.Glu97Val					CORO2A_uc004aym.2_Missense_Mutation_p.E97V	p.E97V	NM_003389	NP_003380	Q92828	COR2A_HUMAN			3	556	-		Acute lymphoblastic leukemia(62;0.0559)	97			WD 1.		Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	ENST00000343933.5	37	c.290A>T	CCDS6735.1	.	.	.	.	.	.	.	.	.	.	T	2.815	-0.246100	0.05906	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	T;T	0.58060	0.36;0.36	4.58	3.35	0.38373	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.171732	0.51477	D	0.000097	T	0.18045	0.0433	N	0.01515	-0.825	0.30174	N	0.801063	B	0.02656	0.0	B	0.06405	0.002	T	0.29366	-1.0014	10	0.02654	T	1	-18.7126	7.3996	0.26956	0.3397:0.0:0.0:0.6603	.	97	Q92828	COR2A_HUMAN	V	97	ENSP00000343746:E97V;ENSP00000364218:E97V	ENSP00000343746:E97V	E	-	2	0	CORO2A	99939703	0.968000	0.33430	0.998000	0.56505	0.836000	0.47400	1.676000	0.37565	2.053000	0.61076	0.459000	0.35465	GAG		0.542	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389		51	122	0	0	0	0	51	122				
COL27A1	85301	broad.mit.edu	37	9	116918294	116918294	+	Splice_Site	SNP	T	T	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr9:116918294T>G	ENST00000356083.3	+	1	453		c.e1+2			NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1						extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						gcgcggggggTGAGTACGAAC	0.751																																						uc011lxl.1		NA																	0				ovary(3)|skin(1)	4						c.e1+2		collagen, type XXVII, alpha 1 precursor							10.0	15.0	13.0					9																	116918294		1558	3600	5158	SO:0001630	splice_region_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116918294T>G	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.62+2T>G	9.37:g.116918294T>G							p.G21_splice	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			1	62	+								Q66K43|Q96JF7	Splice_Site	SNP	ENST00000356083.3	37	c.62_splice	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.732135	0.48939	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	.	.	.	3.31	3.31	0.37934	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2048	0.31446	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL27A1	115958115	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	1.850000	0.39328	1.496000	0.48567	0.240000	0.17902	.		0.751	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	Intron	5	24	0	0	0	0	5	24				
OR1N2	138882	broad.mit.edu	37	9	125315629	125315629	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr9:125315629C>T	ENST00000373688.2	+	1	239	c.181C>T	c.(181-183)Ctc>Ttc	p.L61F		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GGGGAACCTGCTCATTATCCT	0.522																																						uc011lyx.1		NA																	0				ovary(2)|skin(2)	4						c.(181-183)CTC>TTC		olfactory receptor, family 1, subfamily N,							229.0	204.0	212.0					9																	125315629		2203	4300	6503	SO:0001583	missense	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125315629C>T		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.181C>T	9.37:g.125315629C>T	ENSP00000362792:p.Leu61Phe						p.L61F	NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN			1	181	+			61			Helical; Name=1; (Potential).		A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	c.181C>T	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	C	5.640	0.302823	0.10678	.	.	ENSG00000171501	ENST00000373688	T	0.02787	4.16	4.37	2.45	0.29901	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000719	T	0.04770	0.0129	M	0.77616	2.38	0.09310	N	1	B	0.22414	0.069	B	0.27076	0.076	T	0.27502	-1.0072	10	0.62326	D	0.03	.	4.0718	0.09885	0.3435:0.4921:0.0:0.1644	.	61	Q8NGR9	OR1N2_HUMAN	F	61	ENSP00000362792:L61F	ENSP00000362792:L61F	L	+	1	0	OR1N2	124355450	0.000000	0.05858	0.981000	0.43875	0.195000	0.23768	-1.809000	0.01731	1.035000	0.39972	0.650000	0.86243	CTC		0.522	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			11	167	0	0	0	0	11	167				
PBX3	5090	broad.mit.edu	37	9	128723127	128723127	+	Splice_Site	SNP	C	C	T	rs200644689		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr9:128723127C>T	ENST00000373489.5	+	6	1024	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000373487.4_Splice_Site_p.S357S|PBX3_ENST00000342287.5_Splice_Site_p.S336S|PBX3_ENST00000447726.2_Splice_Site_p.S261S|PBX3_ENST00000373483.2_Splice_Site_p.S155S	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	336					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						CACCAAATTCCGGTGCGTACT	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		20035	0.001		0.0	False		,,,				2504	0.0					uc004bqb.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1006-1008)TCC>TCT		pre-B-cell leukemia homeobox 3 isoform 1		C	,	0,4406		0,0,2203	55.0	40.0	45.0		783,1008	-1.9	1.0	9		45	3,8597	3.0+/-9.4	0,3,4297	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	PBX3	NM_001134778.1,NM_006195.5	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	261/360,336/435	128723127	3,13003	2203	4300	6503	SO:0001630	splice_region_variant	5090				anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity	g.chr9:128723127C>T		CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"""Homeoboxes / TALE class"""	8634	protein-coding gene	gene with protein product		176312	"""pre-B-cell leukemia transcription factor 3"""			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.1009+1C>T	9.37:g.128723127C>T						PBX3_uc004bqc.2_Silent_p.S155S|PBX3_uc004bqd.2_Silent_p.S155S|PBX3_uc011lzw.1_Silent_p.S261S|PBX3_uc011lzx.1_Silent_p.S247S|PBX3_uc004bqe.2_Silent_p.S244S	p.S336S	NM_006195	NP_006186	P40426	PBX3_HUMAN			6	1124	+			336					E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Silent	SNP	ENST00000373489.5	37	c.1008C>T	CCDS6865.1																																																																																				0.587	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417765.1		Silent	3	19	0	0	0	0	3	19				
ZMYM3	9203	broad.mit.edu	37	X	70463731	70463732	+	Missense_Mutation	DNP	CC	CC	TA			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chrX:70463731_70463732CC>TA	ENST00000353904.2	-	21	3566_3567	c.3379_3380GG>TA	c.(3379-3381)GGt>TAt	p.G1127Y	ZMYM3_ENST00000373984.3_Missense_Mutation_p.G1122Y|ZMYM3_ENST00000373988.1_Missense_Mutation_p.G1129Y|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373998.1_Missense_Mutation_p.G1115Y|ZMYM3_ENST00000314425.5_Missense_Mutation_p.G1127Y	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1127					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ATATCGTTCACCATTGGGCCGA	0.5																																						uc004dzh.1		NA																	0				ovary(1)	1						c.(3379-3381)GGT>TAT		zinc finger protein 261																																				SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70463731_70463732CC>TA	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3379_3380delinsTA	X.37:g.70463731_70463732delinsTA	ENSP00000343909:p.Gly1127Tyr					BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.G1127Y|ZMYM3_uc004dzj.1_Missense_Mutation_p.G1115Y	p.G1127Y	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			21	3466_3467	-	Renal(35;0.156)		1127					D3DVV3|O15089|Q96E26	Missense_Mutation	DNP	ENST00000353904.2	37	c.3379_3380GG>TA	CCDS14409.1																																																																																				0.500	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		6	53	0	0	0	0	6	53				
THOC2	57187	broad.mit.edu	37	X	122765598	122765598	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chrX:122765598G>C	ENST00000245838.8	-	22	2453	c.2422C>G	c.(2422-2424)Cat>Gat	p.H808D	THOC2_ENST00000355725.4_Missense_Mutation_p.H808D|THOC2_ENST00000491737.1_Missense_Mutation_p.H693D	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	808					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.H729Y(1)|p.H808Y(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TGGGGTGTATGAAATTCATTA	0.418																																						uc004etu.2		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(2)	ovary(3)	3						c.(2422-2424)CAT>GAT		THO complex 2							183.0	169.0	174.0					X																	122765598		1868	4099	5967	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122765598G>C	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.2422C>G	X.37:g.122765598G>C	ENSP00000245838:p.His808Asp					THOC2_uc011muh.1_Missense_Mutation_p.H733D	p.H808D	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			22	2454	-			808					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.2422C>G	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025767	0.93518	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000001	T	0.79191	0.4404	M	0.80028	2.48	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.65684	0.937;0.922	T	0.75271	-0.3376	9	0.21014	T	0.42	-14.3997	19.371	0.94484	0.0:0.0:1.0:0.0	.	733;808	B4DKZ6;Q8NI27	.;THOC2_HUMAN	D	808;808;693;733	.	ENSP00000245838:H808D	H	-	1	0	THOC2	122593279	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.848000	0.99507	2.527000	0.85204	0.600000	0.82982	CAT		0.418	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			5	144	0	0	0	0	5	144				
TMEM187	8269	broad.mit.edu	37	X	153248203	153248203	+	Silent	SNP	G	G	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chrX:153248203G>A	ENST00000369982.4	+	2	1437	c.690G>A	c.(688-690)aaG>aaA	p.K230K	MIR3202-1_ENST00000580198.1_RNA	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	230						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTGGTCCAAGGTCTGTGACG	0.562																																						uc004fjq.2		NA																	0					0						c.(688-690)AAG>AAA		transmembrane protein 187							115.0	99.0	104.0					X																	153248203		2203	4300	6503	SO:0001819	synonymous_variant	8269					integral to membrane|transport vesicle		g.chrX:153248203G>A	X92475	CCDS14739.1	Xq28	2007-03-14	2007-03-14	2007-03-14	ENSG00000177854	ENSG00000177854			13705	protein-coding gene	gene with protein product		300059	"""chromosome X open reading frame 12"""	CXorf12		8661027	Standard	NM_003492		Approved	ITBA1, DXS9878E	uc004fjq.2	Q14656	OTTHUMG00000024220	ENST00000369982.4:c.690G>A	X.37:g.153248203G>A						hsa-mir-3202-2|MI0014253_5'Flank	p.K230K	NM_003492	NP_003483	Q14656	TM187_HUMAN			2	1224	+	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		230					B2RC47|Q6IAV7	Silent	SNP	ENST00000369982.4	37	c.690G>A	CCDS14739.1																																																																																				0.562	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061093.1	NM_003492		42	16	0	0	0	0	42	16				
NAV2	89797	broad.mit.edu	37	11	20117234	20117237	+	Frame_Shift_Del	DEL	TCTT	TCTT	-	rs34775480	byFrequency	TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr11:20117234_20117237delTCTT	ENST00000396087.3	+	33	6209_6212	c.6110_6113delTCTT	c.(6109-6114)ctctttfs	p.LF2037fs	NAV2_ENST00000349880.4_Frame_Shift_Del_p.LF1978fs|NAV2_ENST00000311043.8_Frame_Shift_Del_p.LF1042fs|NAV2_ENST00000396085.1_Frame_Shift_Del_p.LF1981fs|NAV2_ENST00000527559.2_Frame_Shift_Del_p.LF1966fs|NAV2_ENST00000533917.1_Frame_Shift_Del_p.LF1042fs|NAV2_ENST00000540292.1_Frame_Shift_Del_p.LF1968fs|NAV2_ENST00000360655.4_Frame_Shift_Del_p.LF1914fs	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2037					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGACCACATCTCTTTCTTATTGGC	0.461																																						uc001mpr.3		NA																	0				skin(4)|ovary(1)|pancreas(1)	6						c.(5941-5946)CTCTTTfs		neuron navigator 2 isoform 1																																				SO:0001589	frameshift_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:20117234_20117237delTCTT	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.6110_6113delTCTT	11.37:g.20117238_20117241delTCTT	ENSP00000379396:p.Leu2037fs					NAV2_uc001mpp.2_Frame_Shift_Del_p.L1914fs|NAV2_uc009yhx.2_Frame_Shift_Del_p.L1042fs|NAV2_uc009yhz.2_Frame_Shift_Del_p.L623fs|NAV2_uc001mpu.2_Frame_Shift_Del_p.L416fs	p.L1981fs	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN			30	6303_6306	+			2037_2038					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Frame_Shift_Del	DEL	ENST00000396087.3	37	c.5942_5945delTCTT	CCDS58126.1																																																																																				0.461	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		72	151	NA	NA	NA	NA	72	151	---	---	---	---
ESYT1	23344	broad.mit.edu	37	12	56532256	56532257	+	In_Frame_Ins	INS	-	-	TATATGGAG			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr12:56532256_56532257insTATATGGAG	ENST00000394048.5	+	22	2670_2671	c.2406_2407insTATATGGAG	c.(2407-2409)tat>TATATGGAGtat	p.803_803Y>YMEY	ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000541590.1_In_Frame_Ins_p.813_813Y>YMEY|ESYT1_ENST00000267113.4_In_Frame_Ins_p.813_813Y>YMEY	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	803	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGCTATCCATCTATATGGAGCG	0.609																																						uc001sjq.2		NA																	0		p.E805E(1)		ovary(4)|skin(1)	5						c.(2404-2409)insTATATGGAG		extended synaptotagmin-like protein 1																																				SO:0001652	inframe_insertion	23344					integral to membrane		g.chr12:56532256_56532257insTATATGGAG	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2407_2415dupTATATGGAG	12.37:g.56532257_56532265dupTATATGGAG	Exception_encountered					ESYT1_uc001sjr.2_In_Frame_Ins_p.815_816insYME	p.805_806insYME	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN			22	2456_2457	+			805_806			C2 4.		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	In_Frame_Ins	INS	ENST00000394048.5	37	c.2406_2407insTATATGGAG	CCDS8904.1																																																																																				0.609	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		5	7	NA	NA	NA	NA	5	7	---	---	---	---
TMCO3	55002	broad.mit.edu	37	13	114152804	114152804	+	Frame_Shift_Del	DEL	A	A	-	rs143854308		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr13:114152804delA	ENST00000434316.2	+	3	951	c.592delA	c.(592-594)atafs	p.I198fs	TMCO3_ENST00000375391.1_Frame_Shift_Del_p.I198fs|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	198						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GGAGGAAGAGATAGAGGAACA	0.418																																						uc001vtu.3		NA																	0					0						c.(592-594)ATAfs		transmembrane and coiled-coil domains 3							130.0	126.0	127.0					13																	114152804		2203	4300	6503	SO:0001589	frameshift_variant	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114152804delA	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.592delA	13.37:g.114152804delA	ENSP00000389399:p.Ile198fs					TMCO3_uc001vtt.3_Frame_Shift_Del_p.I198fs	p.I198fs	NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		3	953	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	198			Potential.		Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Frame_Shift_Del	DEL	ENST00000434316.2	37	c.592delA	CCDS9537.1																																																																																				0.418	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		31	66	NA	NA	NA	NA	31	66	---	---	---	---
ANGEL1	23357	broad.mit.edu	37	14	77257651	77257652	+	Frame_Shift_Ins	INS	-	-	GGCT			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr14:77257651_77257652insGGCT	ENST00000251089.2	-	8	1788_1789	c.1676_1677insAGCC	c.(1675-1677)cctfs	p.-560fs	ANGEL1_ENST00000557179.1_Frame_Shift_Ins_p.-125fs	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TGGAGAAGGCAGGCTCAAGCTC	0.505																																						uc001xsv.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1675-1677)CCTfs		angel homolog 1																																				SO:0001589	frameshift_variant	23357							g.chr14:77257651_77257652insGGCT	AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.1673_1676dupAGCC	14.37:g.77257652_77257655dupGGCT	ENSP00000251089:p.Ala560fs					ANGEL1_uc010tvf.1_Intron	p.P559fs	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)	8	1789_1790	-			559					B4DWL7|O94859|Q8NCS9	Frame_Shift_Ins	INS	ENST00000251089.2	37	c.1676_1677insAGCC	CCDS9852.1																																																																																				0.505	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305		28	65	NA	NA	NA	NA	28	65	---	---	---	---
XIRP1	165904	broad.mit.edu	37	3	39227515	39227530	+	Frame_Shift_Del	DEL	CCATCCTGAATTGTCA	CCATCCTGAATTGTCA	-	rs372736374		TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr3:39227515_39227530delCCATCCTGAATTGTCA	ENST00000340369.3	-	2	3635_3650	c.3407_3422delTGACAATTCAGGATGG	c.(3406-3423)gtgacaattcaggatggcfs	p.VTIQDG1136fs	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1136					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGTGTAGATGCCATCCTGAATTGTCACCCACCCCCC	0.606																																						uc003cjk.1		NA																	0				ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(3406-3423)GTGACAATTCAGGATGGCfs		xin actin-binding repeat containing 1																																				SO:0001589	frameshift_variant	165904						actin binding	g.chr3:39227515_39227530delCCATCCTGAATTGTCA	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.3407_3422delTGACAATTCAGGATGG	3.37:g.39227515_39227530delCCATCCTGAATTGTCA	ENSP00000343140:p.Val1136fs					XIRP1_uc003cji.2_Intron|XIRP1_uc003cjj.2_Intron	p.V1136fs	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	3628_3643	-			1136_1141					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Frame_Shift_Del	DEL	ENST00000340369.3	37	c.3407_3422delTGACAATTCAGGATGG	CCDS2683.1																																																																																				0.606	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		15	30	NA	NA	NA	NA	15	30	---	---	---	---
TFAP2A	7020	broad.mit.edu	37	6	10410525	10410526	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr6:10410525_10410526insG	ENST00000482890.1	-	3	440_441	c.88_89insC	c.(88-90)cagfs	p.Q30fs	TFAP2A_ENST00000379608.3_Frame_Shift_Ins_p.Q24fs|TFAP2A_ENST00000379604.2_Frame_Shift_Ins_p.Q30fs|TFAP2A-AS1_ENST00000420777.1_RNA|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379613.3_Frame_Shift_Ins_p.Q32fs|TFAP2A_ENST00000319516.4_Frame_Shift_Ins_p.Q26fs			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	30	Gln/Pro-rich (transactivation domain).				anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				AGTGCCCAGCTGGGGCAACCGT	0.614																																						uc003myr.2		NA																	0				ovary(1)	1						c.(88-90)CAGfs		transcription factor AP-2 alpha isoform a																																				SO:0001589	frameshift_variant	7020				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr6:10410525_10410526insG	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.89dupC	6.37:g.10410529_10410529dupG	ENSP00000418541:p.Gln30fs					TFAP2A_uc003myq.2_Frame_Shift_Ins_p.Q24fs|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_Frame_Shift_Ins_p.Q30fs|TFAP2A_uc003myt.2_Frame_Shift_Ins_p.Q26fs|TFAP2A_uc003myu.1_Frame_Shift_Ins_p.Q30fs|TFAP2A_uc003myv.1_Frame_Shift_Ins_p.Q16fs|TFAP2A_uc011dii.1_Frame_Shift_Ins_p.Q26fs|uc003myw.2_5'Flank	p.Q30fs	NM_003220	NP_003211	P05549	AP2A_HUMAN			2	340_341	-	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)	30			Gln/Pro-rich (transactivation domain).		Q13777|Q5TAV5|Q8N1C6	Frame_Shift_Ins	INS	ENST00000482890.1	37	c.88_89insC	CCDS4510.1																																																																																				0.614	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220		10	22	NA	NA	NA	NA	10	22	---	---	---	---
TTI2	80185	broad.mit.edu	37	8	33364791	33364792	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-6491-01A-11D-1870-08	TCGA-CR-6491-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a32853ad-b6a3-4147-ae5a-f48fad71581e	a69cfaac-983d-43bd-87c4-1ae89072749e	g.chr8:33364791_33364792insA	ENST00000431156.2	-	4	1500_1501	c.882_883insT	c.(880-885)catgccfs	p.A295fs	TTI2_ENST00000520636.1_Intron|TTI2_ENST00000519356.1_5'UTR|TTI2_ENST00000360742.5_Frame_Shift_Ins_p.A295fs	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	295																	TTGGAAATGGCATGGTATAGGA	0.436																																						uc003xjl.3		NA																	0					0						c.(880-885)CATGCCfs		hypothetical protein LOC80185																																				SO:0001589	frameshift_variant	80185						binding	g.chr8:33364791_33364792insA	AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"""chromosome 8 open reading frame 41"", ""Tel2 interacting protein 2 homolog (S. pombe)"""	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.883dupT	8.37:g.33364792_33364792dupA	ENSP00000411169:p.Ala295fs					C8orf41_uc003xjk.3_Intron|C8orf41_uc010lvv.2_Frame_Shift_Ins_p.H294fs|C8orf41_uc003xjm.3_Frame_Shift_Ins_p.H294fs|C8orf41_uc003xjn.1_Frame_Shift_Ins_p.H294fs	p.H294fs	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)	3	1407_1408	-			294_295					D3DSV7|Q96IM2|Q9H5N4	Frame_Shift_Ins	INS	ENST00000431156.2	37	c.882_883insT	CCDS6090.1																																																																																				0.436	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115		17	30	NA	NA	NA	NA	17	30	---	---	---	---
