#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
PLEKHN1	84069	broad.mit.edu	37	1	906212	906212	+	Silent	SNP	G	G	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:906212G>T	ENST00000379409.2	+	5	588	c.558G>T	c.(556-558)ctG>ctT	p.L186L	PLEKHN1_ENST00000379410.3_Intron|PLEKHN1_ENST00000379407.3_Intron			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	186	PH 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CCCTGTGGCTGCGGAGCACGT	0.692																																						uc001ace.2		NA																	0					0						c.(556-558)CTG>CTT		pleckstrin homology domain containing, family N							21.0	25.0	23.0					1																	906212		2202	4298	6500	SO:0001819	synonymous_variant	84069							g.chr1:906212G>T	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.558G>T	1.37:g.906212G>T						PLEKHN1_uc001acd.2_Intron|PLEKHN1_uc001acf.2_Intron	p.L186L	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	5	593	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	186			PH 1.		Q494U2|Q5SV98|Q9H0M7	Silent	SNP	ENST00000379409.2	37	c.558G>T																																																																																					0.692	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		13	23	1	0	9.31e-06	1.04e-05	13	23				
CHD5	26038	broad.mit.edu	37	1	6209356	6209356	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:6209356C>G	ENST00000262450.3	-	8	1210	c.1111G>C	c.(1111-1113)Gac>Cac	p.D371H	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGCTCTGGGTCCAGGCATACG	0.657																																						uc001amb.1		NA																	0				central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(1111-1113)GAC>CAC		chromodomain helicase DNA binding protein 5							58.0	49.0	52.0					1																	6209356		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6209356C>G	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.1111G>C	1.37:g.6209356C>G	ENSP00000262450:p.Asp371His					CHD5_uc001amc.1_5'Flank	p.D371H	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	8	1211	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	371			PHD-type 1.		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.1111G>C	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363295	0.82353	.	.	ENSG00000116254	ENST00000262450	D	0.85556	-2.0	4.03	4.03	0.46877	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.071853	0.53938	U	0.000060	D	0.90916	0.7145	M	0.74467	2.265	0.80722	D	1	D	0.56746	0.977	P	0.61477	0.889	D	0.92595	0.6086	10	0.87932	D	0	-30.5119	16.5458	0.84445	0.0:1.0:0.0:0.0	.	371	Q8TDI0	CHD5_HUMAN	H	371	ENSP00000262450:D371H	ENSP00000262450:D371H	D	-	1	0	CHD5	6131943	1.000000	0.71417	0.998000	0.56505	0.861000	0.49209	5.896000	0.69822	1.995000	0.58328	0.313000	0.20887	GAC		0.657	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		3	21	0	0	0	0	3	21				
CAMTA1	23261	broad.mit.edu	37	1	7724545	7724545	+	Silent	SNP	G	G	C	rs142993717		TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:7724545G>C	ENST00000303635.7	+	9	2145	c.1938G>C	c.(1936-1938)acG>acC	p.T646T	CAMTA1_ENST00000439411.2_Silent_p.T646T	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	646					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TGATGCCCACGGTGAAAACGG	0.637			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.2		NA		Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					0				ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(1936-1938)ACG>ACC		calmodulin-binding transcription activator 1		G		6,4400	9.9+/-24.2	0,6,2197	110.0	117.0	114.0		1938	-3.8	1.0	1	dbSNP_134	114	0,8600		0,0,4300	no	coding-synonymous	CAMTA1	NM_015215.2		0,6,6497	CC,CG,GG		0.0,0.1362,0.0461		646/1674	7724545	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7724545G>C	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1938G>C	1.37:g.7724545G>C							p.T646T	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	2145	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	646					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.1938G>C	CCDS30576.1																																																																																				0.637	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		54	167	0	0	0	0	54	167				
KIF1B	23095	broad.mit.edu	37	1	10318626	10318626	+	Missense_Mutation	SNP	G	G	C	rs561371619		TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:10318626G>C	ENST00000377086.1	+	4	461	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	KIF1B_ENST00000377083.1_Missense_Mutation_p.E87Q|KIF1B_ENST00000377081.1_Missense_Mutation_p.E87Q|KIF1B_ENST00000377093.4_Missense_Mutation_p.E87Q|KIF1B_ENST00000263934.6_Missense_Mutation_p.E87Q			O60333	KIF1B_HUMAN	kinesin family member 1B	87	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.			E -> G (in Ref. 8; BAA25517). {ECO:0000305}.	anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ACACGCCTTTGAGGGATATAA	0.418													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18239	0.0		0.0	False		,,,				2504	0.0					uc001aqx.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(259-261)GAG>CAG		kinesin family member 1B isoform b							158.0	148.0	152.0					1																	10318626		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10318626G>C	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.259G>C	1.37:g.10318626G>C	ENSP00000366290:p.Glu87Gln					KIF1B_uc001aqv.3_Missense_Mutation_p.E87Q|KIF1B_uc001aqw.3_Missense_Mutation_p.E87Q|KIF1B_uc001aqy.2_Missense_Mutation_p.E87Q|KIF1B_uc001aqz.2_Missense_Mutation_p.E87Q|KIF1B_uc001ara.2_Missense_Mutation_p.E87Q|KIF1B_uc001arb.2_Missense_Mutation_p.E87Q|KIF1B_uc009vmt.2_RNA	p.E87Q	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	4	461	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	87	E -> G (in Ref. 7; BAA25517).		Kinesin-motor.		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.259G>C		.	.	.	.	.	.	.	.	.	.	G	23.5	4.421583	0.83559	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97	5.69	5.69	0.88448	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.76307	0.3969	N	0.21097	0.63	0.80722	D	1	P;P;P;P;B;D;P	0.61080	0.932;0.832;0.911;0.857;0.158;0.989;0.492	P;P;P;P;B;P;B	0.62649	0.783;0.691;0.795;0.67;0.114;0.905;0.2	T	0.70223	-0.4931	10	0.14656	T	0.56	.	19.8093	0.96541	0.0:0.0:1.0:0.0	.	87;87;87;87;87;87;87	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	Q	87	ENSP00000263934:E87Q;ENSP00000366297:E87Q;ENSP00000366290:E87Q;ENSP00000366287:E87Q;ENSP00000366284:E87Q	ENSP00000263934:E87Q	E	+	1	0	KIF1B	10241213	1.000000	0.71417	0.981000	0.43875	0.962000	0.63368	9.776000	0.99001	2.688000	0.91661	0.460000	0.39030	GAG		0.418	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			21	47	0	0	0	0	21	47				
VPS13D	55187	broad.mit.edu	37	1	12443180	12443180	+	Missense_Mutation	SNP	G	G	C	rs140461198		TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:12443180G>C	ENST00000358136.3	+	58	11466	c.11336G>C	c.(11335-11337)aGa>aCa	p.R3779T	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.R3754T	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTATCCATCAGAGTCATCCCA	0.433																																						uc001atv.2		NA																	0				ovary(4)|pancreas(1)	5						c.(11335-11337)AGA>ACA		vacuolar protein sorting 13D isoform 1							76.0	73.0	74.0					1																	12443180		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12443180G>C	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.11336G>C	1.37:g.12443180G>C	ENSP00000350854:p.Arg3779Thr					VPS13D_uc001atw.2_Missense_Mutation_p.R3754T|VPS13D_uc001atx.2_Missense_Mutation_p.R2966T|VPS13D_uc009vnl.2_RNA	p.R3779T	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	58	11477	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3778						Missense_Mutation	SNP	ENST00000358136.3	37	c.11336G>C	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.11|15.11	2.737348|2.737348	0.49045|0.49045	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.52057	.|0.68;0.68	5.85|5.85	3.66|3.66	0.41972|0.41972	.|.	.|0.095769	.|0.64402	.|D	.|0.000001	T|T	0.37945|0.37945	0.1022|0.1022	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|B;B	.|0.15141	.|0.007;0.012	.|B;B	.|0.15870	.|0.012;0.014	T|T	0.18618|0.18618	-1.0331|-1.0331	5|10	.|0.10377	.|T	.|0.69	.|.	13.4829|13.4829	0.61348|0.61348	0.1475:0.0:0.8525:0.0|0.1475:0.0:0.8525:0.0	.|.	.|3754;3778	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	Q|T	2601|3754;3779	.|ENSP00000348666:R3754T;ENSP00000350854:R3779T	.|ENSP00000348666:R3754T	E|R	+|+	1|2	0|0	VPS13D|VPS13D	12365767|12365767	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.854000|4.854000	0.62918|0.62918	1.482000|1.482000	0.48325|0.48325	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.433	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		9	45	0	0	0	0	9	45				
HTR6	3362	broad.mit.edu	37	1	19992252	19992252	+	Silent	SNP	C	C	A	rs201464687	byFrequency	TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:19992252C>A	ENST00000289753.1	+	1	473	c.6C>A	c.(4-6)gtC>gtA	p.V2V		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	2					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	TCCTCATGGTCCCAGAGCCGG	0.751																																					Esophageal Squamous(168;1879 2619 6848 21062)	uc001bcl.2		NA																	0				ovary(1)	1						c.(4-6)GTC>GTA		5-hydroxytryptamine (serotonin) receptor 6	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						11.0	15.0	14.0					1																	19992252		1324	2867	4191	SO:0001819	synonymous_variant	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:19992252C>A	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.6C>A	1.37:g.19992252C>A							p.V2V	NM_000871	NP_000862	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	1	473	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	2			Extracellular (By similarity).		Q13640|Q5TGZ1	Silent	SNP	ENST00000289753.1	37	c.6C>A	CCDS197.1																																																																																				0.751	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		4	13	1	0	0.00024832	0.00026653	4	13				
STPG1	90529	broad.mit.edu	37	1	24706250	24706250	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:24706250C>G	ENST00000374409.1	-	5	609	c.355G>C	c.(355-357)Gat>Cat	p.D119H	STPG1_ENST00000440416.1_Missense_Mutation_p.D72H|STPG1_ENST00000337248.4_Missense_Mutation_p.D119H|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000003583.8_Missense_Mutation_p.D72H	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	119					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GAAATAAAATCCGATGGGATA	0.428																																						uc001bjc.2		NA																	0				ovary(1)|breast(1)	2						c.(355-357)GAT>CAT		RecName: Full=UPF0490 protein C1orf201;							104.0	105.0	105.0					1																	24706250		2203	4300	6503	SO:0001583	missense	90529							g.chr1:24706250C>G	BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 2"""	615826	"""chromosome 1 open reading frame 201"""	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.355G>C	1.37:g.24706250C>G	ENSP00000363530:p.Asp119His					C1orf201_uc001bja.2_Missense_Mutation_p.D72H|C1orf201_uc001bjb.2_Missense_Mutation_p.D27H|C1orf201_uc001bjd.2_Missense_Mutation_p.D119H|C1orf201_uc001bje.1_Missense_Mutation_p.D72H|C1orf201_uc001bjf.2_5'UTR	p.D119H			Q5TH74	CA201_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145)	5	490	-		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056)	119					Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Missense_Mutation	SNP	ENST00000374409.1	37	c.355G>C	CCDS55581.1	.	.	.	.	.	.	.	.	.	.	C	6.893	0.534194	0.13188	.	.	ENSG00000001460	ENST00000374409;ENST00000440416;ENST00000003583;ENST00000337248;ENST00000437986;ENST00000438866;ENST00000374404	.	.	.	5.9	-4.11	0.03928	.	1.817080	0.02164	N	0.059088	T	0.27559	0.0677	L	0.33485	1.01	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.13176	-1.0519	9	0.41790	T	0.15	-41.6297	1.6189	0.02709	0.2493:0.3806:0.1902:0.1799	.	119;72	Q5TH74;Q5TH74-3	CA201_HUMAN;.	H	119;72;72;119;119;22;23	.	ENSP00000003583:D72H	D	-	1	0	C1orf201	24578837	0.000000	0.05858	0.000000	0.03702	0.315000	0.28087	-0.846000	0.04336	-0.392000	0.07751	0.563000	0.77884	GAT		0.428	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009172.1	NM_178122		6	35	0	0	0	0	6	35				
GRIK3	2899	broad.mit.edu	37	1	37291332	37291332	+	Silent	SNP	G	G	T	rs377113712		TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:37291332G>T	ENST00000373091.3	-	11	1642	c.1626C>A	c.(1624-1626)atC>atA	p.I542I	GRIK3_ENST00000373093.4_Silent_p.I542I	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	542					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				TTCGATACAGGATGCTCACAC	0.572																																						uc001caz.2		NA																	0				ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(1624-1626)ATC>ATA		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						141.0	134.0	136.0					1																	37291332		2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37291332G>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1626C>A	1.37:g.37291332G>T						GRIK3_uc001cba.1_Silent_p.I542I	p.I542I	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			11	1761	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	542			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.1626C>A	CCDS416.1																																																																																				0.572	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		22	34	1	0	1.28e-07	1.47e-07	22	34				
MTF1	4520	broad.mit.edu	37	1	38280845	38280845	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:38280845T>C	ENST00000373036.4	-	11	2365	c.2225A>G	c.(2224-2226)gAg>gGg	p.E742G		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	742					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CATCTCCTCCTCCCCCTGCAG	0.547																																						uc001cce.1		NA																	0				ovary(1)|pancreas(1)	2						c.(2224-2226)GAG>GGG		metal-regulatory transcription factor 1							68.0	65.0	66.0					1																	38280845		2203	4300	6503	SO:0001583	missense	4520					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr1:38280845T>C	BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.2225A>G	1.37:g.38280845T>C	ENSP00000362127:p.Glu742Gly						p.E742G	NM_005955	NP_005946	Q14872	MTF1_HUMAN			11	2366	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	742					B2RAK6|Q96CB1	Missense_Mutation	SNP	ENST00000373036.4	37	c.2225A>G	CCDS30676.1	.	.	.	.	.	.	.	.	.	.	T	13.30	2.195945	0.38806	.	.	ENSG00000188786	ENST00000373036	T	0.10477	2.87	5.95	3.61	0.41365	.	0.120250	0.56097	D	0.000034	T	0.10165	0.0249	L	0.57536	1.79	0.35033	D	0.758978	B	0.24186	0.099	B	0.16722	0.016	T	0.12915	-1.0529	10	0.56958	D	0.05	.	3.5761	0.07936	0.1333:0.0709:0.1395:0.6563	.	742	Q14872	MTF1_HUMAN	G	742	ENSP00000362127:E742G	ENSP00000362127:E742G	E	-	2	0	MTF1	38053432	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.759000	0.47573	0.491000	0.27793	-0.460000	0.05396	GAG		0.547	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012984.2	NM_005955		7	77	0	0	0	0	7	77				
EFCAB14	9813	broad.mit.edu	37	1	47183657	47183657	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:47183657C>G	ENST00000371933.3	-	1	1079	c.103G>C	c.(103-105)Gag>Cag	p.E35Q	EFCAB14_ENST00000544071.1_Missense_Mutation_p.E35Q	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	35							calcium ion binding (GO:0005509)										TCGGGAGGCTCAGTGCGAAGC	0.542																																						uc001cqk.3		NA																	0					0						c.(103-105)GAG>CAG		hypothetical protein LOC9813							80.0	77.0	78.0					1																	47183657		2203	4300	6503	SO:0001583	missense	9813						calcium ion binding	g.chr1:47183657C>G	AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"""EF-hand domain containing"""	29051	protein-coding gene	gene with protein product			"""KIAA0494"""	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.103G>C	1.37:g.47183657C>G	ENSP00000361001:p.Glu35Gln					KIAA0494_uc010omh.1_Missense_Mutation_p.E35Q|KIAA0494_uc001cql.1_Missense_Mutation_p.E35Q	p.E35Q	NM_014774	NP_055589	O75071	K0494_HUMAN			1	1080	-	Acute lymphoblastic leukemia(166;0.155)		35					D3DQ23|Q5SXB8	Missense_Mutation	SNP	ENST00000371933.3	37	c.103G>C	CCDS30706.1	.	.	.	.	.	.	.	.	.	.	C	33	5.252542	0.95336	.	.	ENSG00000159658	ENST00000544071;ENST00000371933	T;T	0.52295	0.67;1.56	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	L	0.55481	1.735	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.66822	-0.5826	10	0.66056	D	0.02	-2.1879	19.1736	0.93590	0.0:1.0:0.0:0.0	.	35;35;35	F5H7K3;B7Z444;O75071	.;.;K0494_HUMAN	Q	35	ENSP00000442465:E35Q;ENSP00000361001:E35Q	ENSP00000361001:E35Q	E	-	1	0	KIAA0494	46956244	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.304000	0.72800	2.836000	0.97738	0.655000	0.94253	GAG		0.542	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021931.1	NM_014774		20	49	0	0	0	0	20	49				
GBP7	388646	broad.mit.edu	37	1	89616257	89616257	+	Splice_Site	SNP	G	G	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:89616257G>A	ENST00000294671.2	-	6	765	c.627C>T	c.(625-627)ggC>ggT	p.G209G		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	209	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GGGGATTCTTGCCTGCAGAAT	0.403																																						uc001dna.2		NA																	0				ovary(1)|skin(1)	2						c.(625-627)GGC>GGT		guanylate binding protein 4-like							81.0	81.0	81.0					1																	89616257		2203	4300	6503	SO:0001630	splice_region_variant	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89616257G>A	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.626-1C>T	1.37:g.89616257G>A						GBP2_uc001dmy.1_RNA	p.G209G	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	6	766	-		Lung NSC(277;0.0908)	209						Silent	SNP	ENST00000294671.2	37	c.627C>T	CCDS720.1																																																																																				0.403	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398	Silent	11	67	0	0	0	0	11	67				
CELSR2	1952	broad.mit.edu	37	1	109810498	109810498	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:109810498C>G	ENST00000271332.3	+	17	6195	c.6134C>G	c.(6133-6135)tCa>tGa	p.S2045*		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2045					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGGAATGAGTCAGGCCTAGAC	0.632																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NA																	0				ovary(4)|lung(3)|skin(1)	8						c.(6133-6135)TCA>TGA		cadherin EGF LAG seven-pass G-type receptor 2							24.0	26.0	25.0					1																	109810498		2203	4300	6503	SO:0001587	stop_gained	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109810498C>G	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.6134C>G	1.37:g.109810498C>G	ENSP00000271332:p.Ser2045*						p.S2045*	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	17	6195	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2045			Extracellular (Potential).		Q5T2Y7|Q92566	Nonsense_Mutation	SNP	ENST00000271332.3	37	c.6134C>G	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	47	13.343128	0.99736	.	.	ENSG00000143126	ENST00000271332	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	17.1264	0.86715	0.0:1.0:0.0:0.0	.	.	.	.	X	2045	.	ENSP00000271332:S2045X	S	+	2	0	CELSR2	109612021	1.000000	0.71417	0.991000	0.47740	0.776000	0.43924	7.097000	0.76967	2.272000	0.75746	0.591000	0.81541	TCA		0.632	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		3	31	0	0	0	0	3	31				
SORT1	6272	broad.mit.edu	37	1	109897086	109897086	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:109897086G>A	ENST00000256637.6	-	5	669	c.611C>T	c.(610-612)gCg>gTg	p.A204V	SORT1_ENST00000538502.1_Missense_Mutation_p.A68V|SORT1_ENST00000482236.1_5'Flank	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	204					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		AAAATTCTTCGCAAAATCTGA	0.418																																						uc001dxm.1		NA																	0				ovary(1)	1						c.(610-612)GCG>GTG		sortilin 1 preproprotein							155.0	147.0	150.0					1																	109897086		2203	4300	6503	SO:0001583	missense	6272				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	g.chr1:109897086G>A	BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.611C>T	1.37:g.109897086G>A	ENSP00000256637:p.Ala204Val					SORT1_uc010ovi.1_Missense_Mutation_p.A68V|SORT1_uc009wfb.2_Missense_Mutation_p.A68V	p.A204V	NM_002959	NP_002950	Q99523	SORT_HUMAN		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)	5	660	-		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	204			Extracellular (Potential).|BNR 2.		B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	ENST00000256637.6	37	c.611C>T	CCDS798.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.823376	0.90873	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.22743	1.94;1.94	5.11	5.11	0.69529	VPS10 (1);	0.053759	0.64402	D	0.000001	T	0.22898	0.0553	L	0.34521	1.04	0.45979	D	0.998792	D;D	0.89917	0.999;1.0	P;P	0.57283	0.743;0.817	T	0.01670	-1.1299	10	0.72032	D	0.01	-15.893	17.6652	0.88201	0.0:0.0:1.0:0.0	.	68;204	B4DWI3;Q99523	.;SORT_HUMAN	V	204;68	ENSP00000256637:A204V;ENSP00000438597:A68V	ENSP00000256637:A204V	A	-	2	0	SORT1	109698609	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.370000	0.66144	2.515000	0.84797	0.655000	0.94253	GCG		0.418	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		30	77	0	0	0	0	30	77				
ATP8B2	57198	broad.mit.edu	37	1	154306629	154306629	+	Silent	SNP	C	C	T	rs142408071		TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:154306629C>T	ENST00000368489.3	+	10	735	c.735C>T	c.(733-735)agC>agT	p.S245S	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Silent_p.S231S|ATP8B2_ENST00000368487.3_Silent_p.S212S	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	231					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACAAATTCAGCGGAACCCTCT	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		19152	0.001		0.0	False		,,,				2504	0.0					uc001fey.1		NA																	0				ovary(1)|skin(1)	2						c.(691-693)AGC>AGT		ATPase, class I, type 8B, member 2 isoform b							229.0	240.0	236.0					1																	154306629		2203	4300	6503	SO:0001819	synonymous_variant	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154306629C>T	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.735C>T	1.37:g.154306629C>T						ATP8B2_uc001few.2_Silent_p.S212S|ATP8B2_uc001fex.2_Silent_p.S245S	p.S231S	NM_001005855	NP_001005855	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		9	882	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		231			Cytoplasmic (Potential).		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Silent	SNP	ENST00000368489.3	37	c.693C>T	CCDS1066.1																																																																																				0.517	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		104	167	0	0	0	0	104	167				
PIK3C2B	5287	broad.mit.edu	37	1	204413526	204413526	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:204413526A>T	ENST00000367187.3	-	18	3261	c.2705T>A	c.(2704-2706)aTg>aAg	p.M902K	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.M874K	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	902	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CTGCACAGCCATACGACGCAC	0.587																																						uc001haw.2		NA																	0				lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7						c.(2704-2706)ATG>AAG		phosphoinositide-3-kinase, class 2 beta							77.0	63.0	68.0					1																	204413526		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204413526A>T	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.2705T>A	1.37:g.204413526A>T	ENSP00000356155:p.Met902Lys					PIK3C2B_uc010pqv.1_Missense_Mutation_p.M874K	p.M902K	NM_002646	NP_002637	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		18	3184	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		902					O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.2705T>A	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	A	12.42	1.932097	0.34096	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.62941	-0.01;-0.01	5.98	5.98	0.97165	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.098880	0.85682	D	0.000000	T	0.43322	0.1242	N	0.21545	0.675	0.37149	D	0.902076	B;P	0.35226	0.001;0.491	B;B	0.31495	0.007;0.131	T	0.50457	-0.8826	10	0.23302	T	0.38	.	9.2471	0.37532	0.8898:0.0:0.1102:0.0	.	874;902	F5GWN5;O00750	.;P3C2B_HUMAN	K	902;874	ENSP00000356155:M902K;ENSP00000400561:M874K	ENSP00000356155:M902K	M	-	2	0	PIK3C2B	202680149	1.000000	0.71417	0.995000	0.50966	0.890000	0.51754	5.417000	0.66423	2.288000	0.76882	0.482000	0.46254	ATG		0.587	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		4	15	0	0	0	0	4	15				
NLRP3	114548	broad.mit.edu	37	1	247587937	247587937	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr1:247587937C>G	ENST00000336119.3	+	3	1938	c.1192C>G	c.(1192-1194)Ctg>Gtg	p.L398V	NLRP3_ENST00000366497.2_Missense_Mutation_p.L398V|NLRP3_ENST00000348069.2_Missense_Mutation_p.L398V|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.L398V|NLRP3_ENST00000391827.2_Missense_Mutation_p.L398V|NLRP3_ENST00000366496.2_Missense_Mutation_p.L398V	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	398	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGCCTTCAGTCTGATTCAGGA	0.537																																						uc001icr.2		NA																	0				lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(1192-1194)CTG>GTG		NLR family, pyrin domain containing 3 isoform a							89.0	71.0	77.0					1																	247587937		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587937C>G	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1192C>G	1.37:g.247587937C>G	ENSP00000337383:p.Leu398Val					NLRP3_uc001ics.2_Missense_Mutation_p.L398V|NLRP3_uc001icu.2_Missense_Mutation_p.L398V|NLRP3_uc001icw.2_Missense_Mutation_p.L398V|NLRP3_uc001icv.2_Missense_Mutation_p.L398V|NLRP3_uc010pyw.1_Missense_Mutation_p.L396V|NLRP3_uc001ict.1_Missense_Mutation_p.L396V	p.L398V	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	1330	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	398			NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1192C>G	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	5.296	0.240044	0.10023	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	4.17	1.94	0.25998	NACHT nucleoside triphosphatase (1);	0.000000	0.41194	D	0.000930	T	0.73931	0.3650	L	0.41415	1.275	0.29531	N	0.852783	B;P;P;B;B	0.46578	0.323;0.88;0.544;0.357;0.125	B;P;B;B;B	0.46275	0.099;0.51;0.236;0.236;0.186	T	0.65825	-0.6074	10	0.19147	T	0.46	.	5.0246	0.14378	0.0:0.6347:0.0:0.3653	.	398;398;398;398;398	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	V	398	ENSP00000375704:L398V;ENSP00000355453:L398V;ENSP00000337383:L398V;ENSP00000294752:L398V;ENSP00000355452:L398V;ENSP00000375703:L398V	ENSP00000337383:L398V	L	+	1	2	NLRP3	245654560	0.265000	0.24102	0.682000	0.30024	0.186000	0.23388	1.229000	0.32600	0.489000	0.27749	0.655000	0.94253	CTG		0.537	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		23	42	0	0	0	0	23	42				
CUBN	8029	broad.mit.edu	37	10	16873286	16873286	+	Missense_Mutation	SNP	C	C	T	rs143300012	byFrequency	TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr10:16873286C>T	ENST00000377833.4	-	65	10558	c.10493G>A	c.(10492-10494)cGt>cAt	p.R3498H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3498	CUB 26. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTCATATCCACGATCAGAAGT	0.393																																						uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(10492-10494)CGT>CAT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	C	HIS/ARG	0,4406		0,0,2203	123.0	111.0	115.0		10493	-9.5	0.0	10	dbSNP_134	115	2,8598	2.2+/-6.3	0,2,4298	no	missense	CUBN	NM_001081.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	3498/3624	16873286	2,13004	2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16873286C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10493G>A	10.37:g.16873286C>T	ENSP00000367064:p.Arg3498His						p.R3498H	NM_001081	NP_001072	O60494	CUBN_HUMAN			65	10545	-			3498			CUB 26.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10493G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	3.307	-0.141612	0.06669	0.0	2.33E-4	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.19669	2.13	4.75	-9.5	0.00584	CUB (5);	1.287600	0.05633	N	0.582065	T	0.12220	0.0297	L	0.35487	1.065	0.09310	N	0.999998	B	0.15141	0.012	B	0.08055	0.003	T	0.14783	-1.0460	10	0.27082	T	0.32	.	7.6113	0.28131	0.1023:0.5499:0.1047:0.2431	.	3498	O60494	CUBN_HUMAN	H	3498;339	ENSP00000367064:R3498H	ENSP00000367064:R3498H	R	-	2	0	CUBN	16913292	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.623000	0.05546	-2.795000	0.00354	-0.367000	0.07326	CGT		0.393	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		20	24	0	0	0	0	20	24				
ARMC4	55130	broad.mit.edu	37	10	28272787	28272787	+	Silent	SNP	T	T	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr10:28272787T>A	ENST00000305242.5	-	6	896	c.804A>T	c.(802-804)ggA>ggT	p.G268G	ARMC4_ENST00000545014.1_5'Flank|ARMC4_ENST00000480504.1_5'Flank|ARMC4_ENST00000537576.1_5'Flank|ARMC4_ENST00000239715.3_Silent_p.G125G	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	268					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTAAAAATACTCCTCCTGCAC	0.433																																						uc009xky.2		NA																	0				ovary(4)|skin(2)	6						c.(802-804)GGA>GGT		armadillo repeat containing 4							62.0	57.0	58.0					10																	28272787		2203	4300	6503	SO:0001819	synonymous_variant	55130						binding	g.chr10:28272787T>A	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.804A>T	10.37:g.28272787T>A						ARMC4_uc010qds.1_5'Flank|ARMC4_uc010qdt.1_5'Flank|ARMC4_uc001itz.2_Silent_p.G268G|ARMC4_uc010qdu.1_5'Flank	p.G268G	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			6	902	-			268					A8K906|B7Z7I1|Q9H0C0	Silent	SNP	ENST00000305242.5	37	c.804A>T	CCDS7157.1																																																																																				0.433	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		12	26	0	0	0	0	12	26				
OR13A1	79290	broad.mit.edu	37	10	45799323	45799323	+	Missense_Mutation	SNP	C	C	G	rs116633831	byFrequency	TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr10:45799323C>G	ENST00000553795.1	-	4	856	c.548G>C	c.(547-549)cGc>cCc	p.R183P	OR13A1_ENST00000536058.1_Missense_Mutation_p.R183P|OR13A1_ENST00000374401.2_Missense_Mutation_p.R183P	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GAAATCCAAGCGCAGCATCAG	0.592																																						uc001jcc.1		NA																	0					0						c.(547-549)CGC>CCC		olfactory receptor, family 13, subfamily A,							48.0	50.0	50.0					10																	45799323		2203	4298	6501	SO:0001583	missense	79290				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr10:45799323C>G	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.548G>C	10.37:g.45799323C>G	ENSP00000451950:p.Arg183Pro					OR13A1_uc001jcd.1_Missense_Mutation_p.R179P	p.R183P	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN			4	857	-			183			Extracellular (Potential).		Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	ENST00000553795.1	37	c.548G>C	CCDS31188.1	.	.	.	.	.	.	.	.	.	.	c	10.47	1.360580	0.24598	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.00091	8.74;8.74;8.74	5.78	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.337003	0.21928	N	0.067072	T	0.00178	0.0005	M	0.63428	1.95	0.09310	N	1	B	0.21309	0.054	B	0.31337	0.128	T	0.39761	-0.9598	10	0.66056	D	0.02	-11.6422	4.3697	0.11242	0.1471:0.5436:0.0:0.3094	.	183	Q8NGR1	O13A1_HUMAN	P	183	ENSP00000451950:R183P;ENSP00000438657:R183P;ENSP00000363522:R183P	ENSP00000311379:R183P	R	-	2	0	OR13A1	45119329	0.000000	0.05858	0.000000	0.03702	0.754000	0.42855	-1.628000	0.02031	0.095000	0.17434	0.650000	0.86243	CGC		0.592	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297		20	48	0	0	0	0	20	48				
MYPN	84665	broad.mit.edu	37	10	69881386	69881386	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr10:69881386C>T	ENST00000358913.5	+	2	679	c.191C>T	c.(190-192)tCa>tTa	p.S64L	MYPN_ENST00000540630.1_Missense_Mutation_p.S64L|MYPN_ENST00000373675.3_Missense_Mutation_p.S64L|MYPN_ENST00000354393.2_Intron	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	64	Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CCAGATCTTTCAGCCTTTCTG	0.527																																						uc001jnm.3		NA																	0				ovary(3)|skin(2)	5						c.(190-192)TCA>TTA		myopalladin							53.0	53.0	53.0					10																	69881386		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69881386C>T	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.191C>T	10.37:g.69881386C>T	ENSP00000351790:p.Ser64Leu					MYPN_uc001jnl.1_Missense_Mutation_p.S64L|MYPN_uc001jnn.3_Intron|MYPN_uc001jno.3_Missense_Mutation_p.S64L|MYPN_uc001jnp.1_Missense_Mutation_p.S64L|MYPN_uc009xps.2_Missense_Mutation_p.S64L|MYPN_uc009xpt.2_Missense_Mutation_p.S64L|MYPN_uc010qit.1_5'UTR|MYPN_uc010qiu.1_RNA	p.S64L	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			3	376	+			64			Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.191C>T	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888103	0.91814	.	.	ENSG00000138347	ENST00000358913;ENST00000540630;ENST00000373675	T;T;T	0.74632	-0.44;-0.46;-0.86	5.5	5.5	0.81552	.	0.137067	0.51477	D	0.000095	D	0.85557	0.5724	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	D	0.84007	0.0346	9	.	.	.	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	64;64	Q86TC9-3;Q86TC9	.;MYPN_HUMAN	L	64	ENSP00000351790:S64L;ENSP00000441668:S64L;ENSP00000362779:S64L	.	S	+	2	0	MYPN	69551392	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.063000	0.76714	2.861000	0.98227	0.655000	0.94253	TCA		0.527	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		19	53	0	0	0	0	19	53				
CALHM2	51063	broad.mit.edu	37	10	105207026	105207026	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr10:105207026G>C	ENST00000260743.5	-	4	1378	c.855C>G	c.(853-855)taC>taG	p.Y285*	CALHM2_ENST00000494180.1_5'Flank|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000369788.3_Nonsense_Mutation_p.Y285*	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	285					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CACGGTACAAGTAGACGCCGG	0.617																																						uc001kwz.2		NA																	0				skin(1)	1						c.(853-855)TAC>TAG		calcium homeostasis modulator 2							84.0	72.0	76.0					10																	105207026		2203	4300	6503	SO:0001587	stop_gained	51063					integral to membrane		g.chr10:105207026G>C	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"""family with sequence similarity 26, member B"""	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.855C>G	10.37:g.105207026G>C	ENSP00000260743:p.Tyr285*					CALHM2_uc001kxa.2_Nonsense_Mutation_p.Y285*|CALHM2_uc001kxc.2_3'UTR|CALHM2_uc001kxb.2_Nonsense_Mutation_p.Y285*	p.Y285*	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN			3	1241	-			285					D3DR94|O95893|Q6ZUV9	Nonsense_Mutation	SNP	ENST00000260743.5	37	c.855C>G	CCDS7549.1	.	.	.	.	.	.	.	.	.	.	G	33	5.233777	0.95207	.	.	ENSG00000138172	ENST00000369788;ENST00000260743	.	.	.	5.37	-0.633	0.11519	.	0.065652	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.5012	12.1458	0.54022	0.3283:0.0:0.6717:0.0	.	.	.	.	X	285	.	ENSP00000260743:Y285X	Y	-	3	2	CALHM2	105197016	0.955000	0.32602	0.048000	0.18961	0.384000	0.30261	1.131000	0.31406	-0.464000	0.06963	-0.367000	0.07326	TAC		0.617	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		19	43	0	0	0	0	19	43				
TIMM10B	26515	broad.mit.edu	37	11	6503307	6503307	+	Silent	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:6503307G>C	ENST00000254616.6	+	3	238	c.168G>C	c.(166-168)ctG>ctC	p.L56L	TIMM10B_ENST00000472836.1_Silent_p.L56L|ARFIP2_ENST00000525235.1_5'Flank|ARFIP2_ENST00000445086.2_5'Flank|ARFIP2_ENST00000254584.2_5'Flank|TIMM10B_ENST00000530751.1_Silent_p.L24L|ARFIP2_ENST00000423813.2_5'Flank|ARFIP2_ENST00000396777.3_5'Flank	NM_012192.3	NP_036324.1	Q9Y5J6	T10B_HUMAN	translocase of inner mitochondrial membrane 10 homolog B (yeast)	56					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial intermembrane space protein transporter complex (GO:0042719)	metal ion binding (GO:0046872)										CTGGGAAGCTGATCCATTCCA	0.602																																						uc001mdn.3		NA																	0					0						c.(166-168)CTG>CTC		mitochondrial import inner membrane translocase							112.0	108.0	109.0					11																	6503307		2201	4296	6497	SO:0001819	synonymous_variant	26515				cell-matrix adhesion|protein import into mitochondrial inner membrane|transmembrane transport	mitochondrial inner membrane|mitochondrial intermembrane space protein transporter complex	metal ion binding	g.chr11:6503307G>C	AF150105	CCDS7766.1	11p15.4	2012-12-07	2012-12-07	2012-12-07	ENSG00000132286	ENSG00000132286			4022	protein-coding gene	gene with protein product		607388	"""fracture callus 1 (rat) homolog"", ""fracture callus 1 homolog (rat)"""	FXC1		10552927	Standard	NM_012192		Approved	Tim9b, TIM10B	uc001mdn.4	Q9Y5J6	OTTHUMG00000133400	ENST00000254616.6:c.168G>C	11.37:g.6503307G>C						ARFIP2_uc001mdk.2_5'Flank|ARFIP2_uc001mdl.2_5'Flank|ARFIP2_uc010ral.1_5'Flank|ARFIP2_uc010ram.1_5'Flank|ARFIP2_uc010ran.1_5'Flank|ARFIP2_uc001mdm.2_5'Flank|ARFIP2_uc009yfe.1_5'Flank|FXC1_uc001mdo.3_RNA	p.L56L	NM_012192	NP_036324	Q9Y5J6	TIM9B_HUMAN		Epithelial(150;3.26e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	3	238	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	56					Q96FF3	Silent	SNP	ENST00000254616.6	37	c.168G>C	CCDS7766.1																																																																																				0.602	TIMM10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257257.2	NM_012192		21	58	0	0	0	0	21	58				
FIBIN	387758	broad.mit.edu	37	11	27016191	27016191	+	Missense_Mutation	SNP	G	G	C	rs144159497		TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:27016191G>C	ENST00000318627.2	+	1	564	c.118G>C	c.(118-120)Gat>Cat	p.D40H		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	40						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						CTTCGTGCCCGATGGGGACTA	0.592																																						uc001mrd.2		NA																	0					0						c.(118-120)GAT>CAT		fin bud initiation factor homolog precursor		G	HIS/ASP	1,4405		0,1,2202	70.0	67.0	68.0		118	6.1	0.9	11	dbSNP_134	68	0,8598		0,0,4299	no	missense	FIBIN	NM_203371.1	81	0,1,6501	CC,CG,GG		0.0,0.0227,0.0077	probably-damaging	40/212	27016191	1,13003	2203	4299	6502	SO:0001583	missense	387758					extracellular region|Golgi apparatus		g.chr11:27016191G>C	BC026873	CCDS7861.1	11p14.2	2008-12-03				ENSG00000176971			33747	protein-coding gene	gene with protein product						17196583	Standard	NM_203371		Approved	MGC24932	uc001mrd.3	Q8TAL6		ENST00000318627.2:c.118G>C	11.37:g.27016191G>C	ENSP00000321962:p.Asp40His						p.D40H	NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN			1	564	+			40						Missense_Mutation	SNP	ENST00000318627.2	37	c.118G>C	CCDS7861.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326578	0.81690	2.27E-4	0.0	ENSG00000176971	ENST00000318627	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.67627	0.2913	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	D	0.64776	0.929	T	0.68557	-0.5377	9	0.87932	D	0	-6.7785	19.2077	0.93739	0.0:0.0:1.0:0.0	.	40	Q8TAL6	FIBIN_HUMAN	H	40	.	ENSP00000321962:D40H	D	+	1	0	FIBIN	26972767	1.000000	0.71417	0.914000	0.36105	0.682000	0.39822	9.164000	0.94755	2.890000	0.99128	0.650000	0.86243	GAT		0.592	FIBIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387945.1	NM_203371		18	17	0	0	0	0	18	17				
PDHX	8050	broad.mit.edu	37	11	34978997	34978997	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:34978997G>C	ENST00000227868.4	+	4	493	c.409G>C	c.(409-411)Gat>Cat	p.D137H	PDHX_ENST00000430469.2_Intron|PDHX_ENST00000448838.3_Missense_Mutation_p.D122H			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	137					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			AGAAGGAGAAGATTGGAAACA	0.403																																						uc001mvt.2		NA																	0				kidney(1)	1						c.(409-411)GAT>CAT		pyruvate dehydrogenase complex, component X							85.0	84.0	84.0					11																	34978997		2202	4298	6500	SO:0001583	missense	8050				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity	g.chr11:34978997G>C	U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.409G>C	11.37:g.34978997G>C	ENSP00000227868:p.Asp137His					PDHX_uc010rep.1_Missense_Mutation_p.D122H|PDHX_uc010req.1_Intron	p.D137H	NM_003477	NP_003468	O00330	ODPX_HUMAN	STAD - Stomach adenocarcinoma(6;0.00113)		4	935	+	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	137					B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	ENST00000227868.4	37	c.409G>C	CCDS7896.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378580	0.82682	.	.	ENSG00000110435	ENST00000533550;ENST00000448838;ENST00000227868;ENST00000533262	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.93	5.93	0.95920	Single hybrid motif (1);	0.000000	0.85682	D	0.000000	T	0.34861	0.0912	N	0.24115	0.695	0.80722	D	1	D;D	0.64830	0.994;0.98	P;P	0.57152	0.708;0.814	T	0.07158	-1.0787	10	0.87932	D	0	-26.3043	19.118	0.93350	0.0:0.0:1.0:0.0	.	122;137	E9PB14;O00330	.;ODPX_HUMAN	H	77;122;137;110	ENSP00000431281:D77H;ENSP00000389404:D122H;ENSP00000227868:D137H;ENSP00000432277:D110H	ENSP00000227868:D137H	D	+	1	0	PDHX	34935573	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	5.720000	0.68470	2.798000	0.96311	0.655000	0.94253	GAT		0.403	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390017.1	NM_003477		20	55	0	0	0	0	20	55				
RAG1	5896	broad.mit.edu	37	11	36595094	36595094	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:36595094G>C	ENST00000299440.5	+	2	352	c.240G>C	c.(238-240)ttG>ttC	p.L80F		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	80	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CTCAGCCATTGTTAAAAGCCC	0.488									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3		NA																	0				ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5						c.(238-240)TTG>TTC		recombination activating gene 1							75.0	82.0	80.0					11																	36595094		2202	4298	6500	SO:0001583	missense	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595094G>C	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.240G>C	11.37:g.36595094G>C	ENSP00000299440:p.Leu80Phe					RAG1_uc001mwt.2_RNA	p.L80F	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	364	+	all_lung(20;0.226)	all_hematologic(20;0.107)	80			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.240G>C	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	3.345	-0.133775	0.06711	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.71222	-0.55;-0.54	6.14	-4.51	0.03483	.	0.495154	0.22383	N	0.060786	T	0.48926	0.1527	L	0.36672	1.1	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.28618	-1.0038	10	0.87932	D	0	.	1.8989	0.03264	0.1995:0.3857:0.127:0.2879	.	80	P15918	RAG1_HUMAN	F	80	ENSP00000434610:L80F;ENSP00000299440:L80F	ENSP00000299440:L80F	L	+	3	2	RAG1	36551670	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.994000	0.03716	-1.115000	0.02973	-1.246000	0.01523	TTG		0.488	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		17	108	0	0	0	0	17	108				
AHNAK	79026	broad.mit.edu	37	11	62291028	62291028	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:62291028C>T	ENST00000378024.4	-	5	11135	c.10861G>A	c.(10861-10863)Gaa>Aaa	p.E3621K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3621					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACATCGACTTCAGGGCCTTCT	0.483																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(10861-10863)GAA>AAA		AHNAK nucleoprotein isoform 1							201.0	206.0	204.0					11																	62291028		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62291028C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10861G>A	11.37:g.62291028C>T	ENSP00000367263:p.Glu3621Lys					AHNAK_uc001ntk.1_Intron	p.E3621K	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	11161	-		Melanoma(852;0.155)	3621					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.10861G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	N	12.48	1.951228	0.34471	.	.	ENSG00000124942	ENST00000378024	T	0.01034	5.42	4.41	4.41	0.53225	.	0.500652	0.20579	N	0.089561	T	0.01627	0.0052	M	0.69823	2.125	0.44668	D	0.997658	P	0.42692	0.787	B	0.36134	0.218	T	0.70008	-0.4990	10	0.24483	T	0.36	-23.3516	15.2472	0.73513	0.0:1.0:0.0:0.0	.	3621	Q09666	AHNK_HUMAN	K	3621	ENSP00000367263:E3621K	ENSP00000367263:E3621K	E	-	1	0	AHNAK	62047604	0.966000	0.33281	0.553000	0.28255	0.160000	0.22226	2.611000	0.46334	2.201000	0.70794	0.447000	0.29281	GAA		0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		78	81	0	0	0	0	78	81				
AHNAK	79026	broad.mit.edu	37	11	62291184	62291184	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:62291184C>T	ENST00000378024.4	-	5	10979	c.10705G>A	c.(10705-10707)Gaa>Aaa	p.E3569K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3569					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGATCCCCTTCAAGTTTGGGA	0.458																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(10705-10707)GAA>AAA		AHNAK nucleoprotein isoform 1							149.0	156.0	154.0					11																	62291184		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62291184C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10705G>A	11.37:g.62291184C>T	ENSP00000367263:p.Glu3569Lys					AHNAK_uc001ntk.1_Intron	p.E3569K	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	11005	-		Melanoma(852;0.155)	3569					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.10705G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	15.89	2.966813	0.53507	.	.	ENSG00000124942	ENST00000378024	T	0.01725	4.67	4.6	3.67	0.42095	.	0.061574	0.64402	D	0.000005	T	0.06781	0.0173	L	0.54965	1.715	0.37336	D	0.91016	D	0.61697	0.99	D	0.72982	0.979	T	0.40384	-0.9566	10	0.33940	T	0.23	-16.4032	12.7702	0.57417	0.0:0.8353:0.1647:0.0	.	3569	Q09666	AHNK_HUMAN	K	3569	ENSP00000367263:E3569K	ENSP00000367263:E3569K	E	-	1	0	AHNAK	62047760	0.997000	0.39634	0.255000	0.24374	0.963000	0.63663	3.538000	0.53597	0.913000	0.36797	0.453000	0.30009	GAA		0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		83	55	0	0	0	0	83	55				
AHNAK	79026	broad.mit.edu	37	11	62292529	62292529	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:62292529C>T	ENST00000378024.4	-	5	9634	c.9360G>A	c.(9358-9360)atG>atA	p.M3120I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3120					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGGAACTTTCATGTCACCTT	0.468																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(9358-9360)ATG>ATA		AHNAK nucleoprotein isoform 1							218.0	235.0	229.0					11																	62292529		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62292529C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.9360G>A	11.37:g.62292529C>T	ENSP00000367263:p.Met3120Ile					AHNAK_uc001ntk.1_Intron	p.M3120I	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	9660	-		Melanoma(852;0.155)	3120					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.9360G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.441801	0.00180	.	.	ENSG00000124942	ENST00000378024	T	0.00653	5.96	3.79	-7.58	0.01313	.	.	.	.	.	T	0.00271	0.0008	N	0.02802	-0.49	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43702	-0.9375	9	0.06891	T	0.86	0.0853	3.8772	0.09062	0.421:0.1957:0.308:0.0753	.	3120	Q09666	AHNK_HUMAN	I	3120	ENSP00000367263:M3120I	ENSP00000367263:M3120I	M	-	3	0	AHNAK	62049105	0.003000	0.15002	0.000000	0.03702	0.005000	0.04900	-2.171000	0.01267	-4.077000	0.00076	-0.676000	0.03789	ATG		0.468	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		92	99	0	0	0	0	92	99				
AHNAK	79026	broad.mit.edu	37	11	62292958	62292958	+	Silent	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:62292958C>T	ENST00000378024.4	-	5	9205	c.8931G>A	c.(8929-8931)gtG>gtA	p.V2977V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2977					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CATCGCCCTTCACCTTGGGAC	0.507																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(8929-8931)GTG>GTA		AHNAK nucleoprotein isoform 1							160.0	170.0	166.0					11																	62292958		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62292958C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8931G>A	11.37:g.62292958C>T						AHNAK_uc001ntk.1_Intron	p.V2977V	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	9231	-		Melanoma(852;0.155)	2977					A1A586	Silent	SNP	ENST00000378024.4	37	c.8931G>A	CCDS31584.1																																																																																				0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		66	67	0	0	0	0	66	67				
AHNAK	79026	broad.mit.edu	37	11	62294979	62294979	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:62294979C>G	ENST00000378024.4	-	5	7184	c.6910G>C	c.(6910-6912)Gag>Cag	p.E2304Q	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2304					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAGTGCATCTCAGGCATCTTA	0.478																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(6910-6912)GAG>CAG		AHNAK nucleoprotein isoform 1							157.0	165.0	162.0					11																	62294979		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62294979C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6910G>C	11.37:g.62294979C>G	ENSP00000367263:p.Glu2304Gln					AHNAK_uc001ntk.1_Intron	p.E2304Q	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	7210	-		Melanoma(852;0.155)	2304					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6910G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862805	0.32884	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.03035	4.07	3.91	2.99	0.34606	.	0.400647	0.18103	U	0.151613	T	0.07369	0.0186	M	0.85630	2.765	0.09310	N	1	P	0.43352	0.804	B	0.40375	0.327	T	0.18587	-1.0332	10	0.42905	T	0.14	-12.4663	6.7778	0.23628	0.1736:0.7328:0.0:0.0936	.	2304	Q09666	AHNK_HUMAN	Q	393;2304	ENSP00000367263:E2304Q	ENSP00000244934:E393Q	E	-	1	0	AHNAK	62051555	0.137000	0.22531	0.760000	0.31359	0.772000	0.43724	1.853000	0.39358	0.768000	0.33290	0.291000	0.19559	GAG		0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		80	87	0	0	0	0	80	87				
AHNAK	79026	broad.mit.edu	37	11	62295736	62295736	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:62295736C>A	ENST00000378024.4	-	5	6427	c.6153G>T	c.(6151-6153)atG>atT	p.M2051I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2051					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGCATTTTCATCTTGGGCA	0.512																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(6151-6153)ATG>ATT		AHNAK nucleoprotein isoform 1							284.0	290.0	288.0					11																	62295736		2202	4297	6499	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62295736C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6153G>T	11.37:g.62295736C>A	ENSP00000367263:p.Met2051Ile					AHNAK_uc001ntk.1_Intron	p.M2051I	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	6453	-		Melanoma(852;0.155)	2051					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6153G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	2.623	-0.288073	0.05605	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.15718	2.4	4.05	1.07	0.20283	.	1.498210	0.04582	N	0.395195	T	0.12092	0.0294	L	0.38838	1.175	0.23254	N	0.998033	B	0.02656	0.0	B	0.01281	0.0	T	0.31971	-0.9924	10	0.15066	T	0.55	.	2.236	0.04008	0.1333:0.3421:0.3429:0.1816	.	2051	Q09666	AHNK_HUMAN	I	140;2051	ENSP00000367263:M2051I	ENSP00000244934:M140I	M	-	3	0	AHNAK	62052312	0.002000	0.14202	0.969000	0.41365	0.838000	0.47535	-1.533000	0.02215	-0.069000	0.12931	0.298000	0.19748	ATG		0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		137	127	1	0	7.45e-56	8.85e-56	137	127				
AHNAK	79026	broad.mit.edu	37	11	62296638	62296638	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:62296638C>T	ENST00000378024.4	-	5	5525	c.5251G>A	c.(5251-5253)Gat>Aat	p.D1751N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1751					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAGGAGCATCAGTGTCCACA	0.483																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(5251-5253)GAT>AAT		AHNAK nucleoprotein isoform 1							124.0	135.0	131.0					11																	62296638		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62296638C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5251G>A	11.37:g.62296638C>T	ENSP00000367263:p.Asp1751Asn					AHNAK_uc001ntk.1_Intron	p.D1751N	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	5551	-		Melanoma(852;0.155)	1751					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.5251G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	1.133	-0.651742	0.03506	.	.	ENSG00000124942	ENST00000378024	T	0.05382	3.45	3.9	0.917	0.19380	.	.	.	.	.	T	0.05686	0.0149	L	0.39085	1.19	0.09310	N	1	B	0.26547	0.152	B	0.30495	0.116	T	0.46569	-0.9182	9	0.19590	T	0.45	.	7.5397	0.27731	0.0:0.6392:0.0:0.3608	.	1751	Q09666	AHNK_HUMAN	N	1751	ENSP00000367263:D1751N	ENSP00000367263:D1751N	D	-	1	0	AHNAK	62053214	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.063000	0.14410	-0.032000	0.13758	-0.679000	0.03777	GAT		0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		76	62	0	0	0	0	76	62				
FAT3	120114	broad.mit.edu	37	11	92523229	92523229	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:92523229G>C	ENST00000298047.6	+	7	4473	c.4456G>C	c.(4456-4458)Gat>Cat	p.D1486H	FAT3_ENST00000525166.1_Missense_Mutation_p.D1336H|FAT3_ENST00000409404.2_Missense_Mutation_p.D1486H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1486	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAAGCCACAGATAGAGATGA	0.468										TCGA Ovarian(4;0.039)																												uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(4456-4458)GAT>CAT		FAT tumor suppressor homolog 3							182.0	177.0	178.0					11																	92523229		2080	4228	6308	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92523229G>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4456G>C	11.37:g.92523229G>C	ENSP00000298047:p.Asp1486His	TCGA Ovarian(4;0.039)					p.D1486H	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			7	4473	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1486			Cadherin 14.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4456G>C		.	.	.	.	.	.	.	.	.	.	G	29.2	4.988105	0.93106	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.62105	0.05;0.05;0.05	6.17	6.17	0.99709	.	.	.	.	.	D	0.89959	0.6866	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93496	0.6840	9	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1486	Q8TDW7-3	.	H	1486;1486;1336	ENSP00000298047:D1486H;ENSP00000387040:D1486H;ENSP00000432586:D1336H	ENSP00000298047:D1486H	D	+	1	0	FAT3	92162877	1.000000	0.71417	0.958000	0.39756	0.861000	0.49209	9.787000	0.99055	2.941000	0.99782	0.655000	0.94253	GAT		0.468	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		41	44	0	0	0	0	41	44				
SLC6A13	6540	broad.mit.edu	37	12	332337	332337	+	Missense_Mutation	SNP	C	C	A	rs202217743		TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr12:332337C>A	ENST00000343164.4	-	12	1427	c.1375G>T	c.(1375-1377)Gtg>Ttg	p.V459L	SLC6A13_ENST00000539668.1_5'UTR|SLC6A13_ENST00000445055.2_Missense_Mutation_p.V367L	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	459					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)			AAGATGGCCACGAACAGGAGG	0.522																																						uc001qic.1		NA																	0					0						c.(1375-1377)GTG>TTG		solute carrier family 6 (neurotransmitter							150.0	121.0	131.0					12																	332337		2203	4300	6503	SO:0001583	missense	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:332337C>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.1375G>T	12.37:g.332337C>A	ENSP00000339260:p.Val459Leu					SLC6A13_uc009zdj.1_Missense_Mutation_p.V449L|SLC6A13_uc010sdl.1_Missense_Mutation_p.V367L	p.V459L	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		12	1428	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		459			Helical; Name=10; (Potential).		B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	c.1375G>T	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	C	6.239	0.412183	0.11812	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	T;T	0.73681	-0.77;-0.77	4.8	4.8	0.61643	.	0.057476	0.64402	D	0.000002	T	0.60117	0.2244	N	0.12746	0.255	0.54753	D	0.999983	B;B;B	0.21381	0.029;0.055;0.055	B;B;B	0.33750	0.063;0.169;0.169	T	0.55768	-0.8089	10	0.06365	T	0.9	.	17.8565	0.88765	0.0:1.0:0.0:0.0	.	367;438;459	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	L	367;438;459	ENSP00000407104:V367L;ENSP00000339260:V459L	ENSP00000318097:V438L	V	-	1	0	SLC6A13	202598	0.999000	0.42202	0.998000	0.56505	0.922000	0.55478	3.795000	0.55499	2.212000	0.71576	0.561000	0.74099	GTG		0.522	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		7	22	1	0	7.48e-07	8.39e-07	7	22				
B4GALNT3	283358	broad.mit.edu	37	12	675268	675268	+	IGR	SNP	A	A	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr12:675268A>G	ENST00000266383.5	+	0	5068				NINJ2_ENST00000305108.4_Missense_Mutation_p.M83T|NINJ2_ENST00000397265.3_Missense_Mutation_p.M30T|NINJ2_ENST00000433832.2_Start_Codon_SNP_p.M1T|NINJ2_ENST00000537416.1_Intron|NINJ2_ENST00000542920.1_Start_Codon_SNP_p.M1T	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3						metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CACGTCCAGCATGCTCTCCGC	0.602																																						uc001qil.2		NA																	0				ovary(2)	2						c.(247-249)ATG>ACG		ninjurin 2							121.0	83.0	96.0					12																	675268		2203	4300	6503	SO:0001628	intergenic_variant	4815				nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane		g.chr12:675268A>G	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283		12.37:g.675268A>G						NINJ2_uc010sdr.1_Missense_Mutation_p.M1T|NINJ2_uc010sds.1_Missense_Mutation_p.M83T	p.M83T	NM_016533	NP_057617	Q9NZG7	NINJ2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)		2	339	-	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		37			Extracellular (Potential).		Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.248T>C	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.580929	0.86748	.	.	ENSG00000171840	ENST00000305108;ENST00000397265;ENST00000542920;ENST00000433832	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	4.83	4.83	0.62350	.	0.048744	0.85682	D	0.000000	T	0.74535	0.3729	M	0.92604	3.325	0.51767	D	0.999938	D;D	0.71674	0.998;0.997	D;D	0.69824	0.966;0.939	T	0.82055	-0.0647	10	0.87932	D	0	-22.0062	14.4144	0.67139	1.0:0.0:0.0:0.0	.	83;37	B4DJC1;Q9NZG7	.;NINJ2_HUMAN	T	83;30;1;1	ENSP00000307552:M83T;ENSP00000380435:M30T;ENSP00000438831:M1T;ENSP00000415158:M1T	ENSP00000307552:M83T	M	-	2	0	NINJ2	545529	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.103000	0.94232	1.797000	0.52628	0.402000	0.26972	ATG		0.602	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		11	34	0	0	0	0	11	34				
LALBA	3906	broad.mit.edu	37	12	48962875	48962875	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr12:48962875G>C	ENST00000301046.2	-	2	307	c.282C>G	c.(280-282)atC>atG	p.I94M	LALBA_ENST00000549817.1_Missense_Mutation_p.I94M	NM_002289.2	NP_002280.1	P00709	LALBA_HUMAN	lactalbumin, alpha-	94					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|lactose biosynthetic process (GO:0005989)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|lactose synthase activity (GO:0004461)			large_intestine(1)|stomach(2)	3						TGTCACAGGAGATGTCACAGA	0.468																																						uc001rrt.2		NA																	0					0						c.(280-282)ATC>ATG		lactalbumin, alpha- precursor							214.0	192.0	200.0					12																	48962875		2203	4300	6503	SO:0001583	missense	3906				cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity	g.chr12:48962875G>C		CCDS8765.1	12q13	2012-10-02				ENSG00000167531			6480	protein-coding gene	gene with protein product		149750					Standard	XM_006719395		Approved	LYZL7	uc001rrt.3	P00709	OTTHUMG00000170391	ENST00000301046.2:c.282C>G	12.37:g.48962875G>C	ENSP00000301046:p.Ile94Met						p.I94M	NM_002289	NP_002280	P00709	LALBA_HUMAN			2	308	-			94					Q6FGX0|Q9UDK4	Missense_Mutation	SNP	ENST00000301046.2	37	c.282C>G	CCDS8765.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199718	0.38905	.	.	ENSG00000167531	ENST00000301046;ENST00000549817	T;T	0.74632	-0.86;-0.86	5.58	1.19	0.21007	Lysozyme-like domain (1);Glycoside hydrolase, family 22, conserved site (1);	0.287034	0.32624	N	0.005854	T	0.76364	0.3977	L	0.60012	1.86	0.09310	N	1	P	0.46656	0.882	P	0.54544	0.755	T	0.67317	-0.5701	10	0.87932	D	0	-3.1434	8.0092	0.30342	0.3865:0.0:0.6135:0.0	.	94	P00709	LALBA_HUMAN	M	94	ENSP00000301046:I94M;ENSP00000449780:I94M	ENSP00000301046:I94M	I	-	3	3	LALBA	47249142	0.995000	0.38212	0.131000	0.22000	0.684000	0.39900	1.101000	0.31037	0.323000	0.23307	0.460000	0.39030	ATC		0.468	LALBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408836.1	NM_002289		19	76	0	0	0	0	19	76				
KMT2D	8085	broad.mit.edu	37	12	49443703	49443703	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr12:49443703G>C	ENST00000301067.7	-	11	3667	c.3668C>G	c.(3667-3669)tCa>tGa	p.S1223*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1223					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GAGGGGCTCTGAGCCAGGAAA	0.612																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(3667-3669)TCA>TGA		myeloid/lymphoid or mixed-lineage leukemia 2							42.0	46.0	45.0					12																	49443703		1894	4122	6016	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49443703G>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3668C>G	12.37:g.49443703G>C	ENSP00000301067:p.Ser1223*	HNSCC(34;0.089)					p.S1223*	NM_003482	NP_003473	O14686	MLL2_HUMAN			11	3668	-			1223					O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.3668C>G	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	42	9.302003	0.99130	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.53	5.53	0.82687	.	0.000000	0.31636	N	0.007306	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.261	0.90035	0.0:0.0:1.0:0.0	.	.	.	.	X	1223	.	ENSP00000301067:S1223X	S	-	2	0	MLL2	47729970	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.279000	0.65597	2.596000	0.87737	0.655000	0.94253	TCA		0.612	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			29	42	0	0	0	0	29	42				
OAS2	4939	broad.mit.edu	37	12	113442855	113442855	+	Silent	SNP	C	C	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr12:113442855C>A	ENST00000342315.4	+	7	1510	c.1296C>A	c.(1294-1296)gtC>gtA	p.V432V	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Silent_p.V432V	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	432	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	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)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ACAAAATCGTCAAGGAAATCC	0.507																																					Pancreas(199;709 2232 18410 33584 35052)	uc001tuj.2		NA																	0				ovary(1)	1						c.(1294-1296)GTC>GTA		2'-5'-oligoadenylate synthetase 2 isoform 1							82.0	77.0	79.0					12																	113442855		2203	4300	6503	SO:0001819	synonymous_variant	4939				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113442855C>A	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1296C>A	12.37:g.113442855C>A						OAS2_uc001tui.1_Silent_p.V432V	p.V432V	NM_016817	NP_058197	P29728	OAS2_HUMAN			7	1436	+			432			OAS domain 2.		A8K9T1|Q6PJ33|Q86XX8	Silent	SNP	ENST00000342315.4	37	c.1296C>A	CCDS31906.1																																																																																				0.507	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			4	27	1	0	0.00024832	0.00026653	4	27				
BRCA2	675	broad.mit.edu	37	13	32903578	32903578	+	Splice_Site	SNP	A	A	C	rs397507842		TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr13:32903578A>C	ENST00000380152.3	+	8	864		c.e8-1		BRCA2_ENST00000544455.1_Splice_Site			P51587	BRCA2_HUMAN	breast cancer 2, early onset						brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.?(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTTATCTTACAGTCAGAAATG	0.284			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NA	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		1	Unknown(1)	p.?(1)	lung(1)	ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.e8-2	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							52.0	51.0	51.0					13																	32903578		2196	4281	6477	SO:0001630	splice_region_variant	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32903578A>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.632-1A>C	13.37:g.32903578A>C		TCGA Ovarian(8;0.087)				BRCA2_uc001uua.1_Splice_Site_p.V88_splice	p.V211_splice	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	8	859	+		Lung SC(185;0.0262)						O00183|O15008|Q13879|Q5TBJ7	Splice_Site	SNP	ENST00000380152.3	37	c.632_splice	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	11.50	1.656450	0.29425	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3502	0.55144	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BRCA2	31801578	0.993000	0.37304	0.998000	0.56505	0.202000	0.24057	4.097000	0.57741	2.234000	0.73211	0.459000	0.35465	.		0.284	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	Intron	5	2	0	0	0	0	5	2				
PROSER1	80209	broad.mit.edu	37	13	39587551	39587551	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr13:39587551C>A	ENST00000352251.3	-	11	2671	c.1838G>T	c.(1837-1839)aGt>aTt	p.S613I	PROSER1_ENST00000350125.3_Missense_Mutation_p.S591I|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	613	Ser-rich.																GGGAGTAGGACTTGTGGGCTC	0.502																																						uc001uwy.2		NA																	0				ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5						c.(1837-1839)AGT>ATT		hypothetical protein LOC80209 isoform 1							156.0	165.0	162.0					13																	39587551		2203	4300	6503	SO:0001583	missense	80209							g.chr13:39587551C>A	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.1838G>T	13.37:g.39587551C>A	ENSP00000332034:p.Ser613Ile					C13orf23_uc001uwz.2_Missense_Mutation_p.S591I	p.S613I	NM_025138	NP_079414	Q86XN7	CM023_HUMAN		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)	11	2711	-		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	613			Ser-rich.		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	c.1838G>T	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035696	0.75617	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.53640	0.61;0.61	5.01	4.16	0.48862	.	.	.	.	.	T	0.55449	0.1921	L	0.34521	1.04	0.52501	D	0.999959	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.52200	-0.8607	8	.	.	.	-13.3114	12.7376	0.57234	0.0:0.92:0.0:0.08	.	591;613	A6NJ97;Q86XN7	.;PRSR1_HUMAN	I	613;591	ENSP00000332034:S613I;ENSP00000339123:S591I	.	S	-	2	0	PROSER1	38485551	1.000000	0.71417	0.057000	0.19452	0.938000	0.57974	3.749000	0.55150	1.233000	0.43693	0.561000	0.74099	AGT		0.502	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		37	50	1	0	1.31e-17	1.55e-17	37	50				
PCDH8	5100	broad.mit.edu	37	13	53419750	53419750	+	Silent	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr13:53419750C>T	ENST00000377942.3	-	2	2852	c.2649G>A	c.(2647-2649)ccG>ccA	p.P883P	PCDH8_ENST00000338862.4_Silent_p.P786P	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	883					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TTCCAAAACCCGGGGAGGCAC	0.557																																					GBM(36;25 841 9273 49207)	uc001vhi.2		NA																	0				breast(1)	1						c.(2647-2649)CCG>CCA		protocadherin 8 isoform 1 precursor							31.0	31.0	31.0					13																	53419750		2202	4300	6502	SO:0001819	synonymous_variant	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53419750C>T	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2649G>A	13.37:g.53419750C>T						PCDH8_uc001vhj.2_Silent_p.P786P	p.P883P	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	2	2852	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	883			Cytoplasmic (Potential).		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Silent	SNP	ENST00000377942.3	37	c.2649G>A	CCDS9438.1																																																																																				0.557	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		4	32	0	0	0	0	4	32				
GPC5	2262	broad.mit.edu	37	13	92051386	92051386	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr13:92051386C>T	ENST00000377067.3	+	1	458	c.86C>T	c.(85-87)aCc>aTc	p.T29I		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	29					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GGCGTGCAGACCTGCGAAGAA	0.672																																						uc010tif.1		NA																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(85-87)ACC>ATC		glypican 5 precursor							27.0	27.0	27.0					13																	92051386		2199	4299	6498	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92051386C>T	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.86C>T	13.37:g.92051386C>T	ENSP00000366267:p.Thr29Ile						p.T29I	NM_004466	NP_004457	P78333	GPC5_HUMAN			1	452	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	29					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.86C>T	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517550	0.44763	.	.	ENSG00000179399	ENST00000377067	T	0.51574	0.7	4.2	1.32	0.21799	.	0.264682	0.41823	D	0.000807	T	0.32315	0.0825	L	0.27053	0.805	0.23896	N	0.996533	P	0.38642	0.641	B	0.39258	0.295	T	0.17592	-1.0364	10	0.72032	D	0.01	.	7.7565	0.28927	0.1225:0.2257:0.6518:0.0	.	29	P78333	GPC5_HUMAN	I	29	ENSP00000366267:T29I	ENSP00000366267:T29I	T	+	2	0	GPC5	90849387	0.915000	0.31059	0.954000	0.39281	0.890000	0.51754	0.046000	0.14035	0.094000	0.17404	-0.553000	0.04205	ACC		0.672	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		14	5	0	0	0	0	14	5				
SPG11	80208	broad.mit.edu	37	15	44862786	44862786	+	Silent	SNP	G	G	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr15:44862786G>A	ENST00000261866.7	-	34	6430	c.6414C>T	c.(6412-6414)gtC>gtT	p.V2138V	SPG11_ENST00000427534.2_Silent_p.V2138V|SPG11_ENST00000535302.2_Silent_p.V2025V	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2138					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CGGCCTGTAGGACTCGGATGA	0.592																																						uc001ztx.2		NA																	0				ovary(4)|skin(1)	5						c.(6412-6414)GTC>GTT		spatacsin isoform 1							85.0	71.0	76.0					15																	44862786		2198	4298	6496	SO:0001819	synonymous_variant	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44862786G>A		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.6414C>T	15.37:g.44862786G>A						SPG11_uc010bdw.2_Silent_p.V268V|SPG11_uc010ueh.1_Silent_p.V2025V|SPG11_uc010uei.1_Silent_p.V2138V	p.V2138V	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	34	6445	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	2138			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	c.6414C>T	CCDS10112.1																																																																																				0.592	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			4	20	0	0	0	0	4	20				
SEMA6D	80031	broad.mit.edu	37	15	48060877	48060877	+	Missense_Mutation	SNP	G	G	A	rs545257336		TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr15:48060877G>A	ENST00000316364.5	+	18	2304	c.1865G>A	c.(1864-1866)cGg>cAg	p.R622Q	SEMA6D_ENST00000389432.2_Intron|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R603Q|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000537942.1_Intron|SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000358066.4_Intron|SEMA6D_ENST00000536845.2_Missense_Mutation_p.R622Q|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000389428.3_Intron	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	622					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R622L(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ACAAGCTCTCGGAAATTTGTA	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18713	0.0		0.0	False		,,,				2504	0.0					uc010bek.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|breast(1)	4						c.(1864-1866)CGG>CAG		semaphorin 6D isoform 4 precursor							120.0	113.0	115.0					15																	48060877		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48060877G>A	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1865G>A	15.37:g.48060877G>A	ENSP00000324857:p.Arg622Gln					SEMA6D_uc001zvw.2_Intron|SEMA6D_uc001zvy.2_Missense_Mutation_p.R622Q|SEMA6D_uc001zvz.2_Intron|SEMA6D_uc001zwa.2_Intron|SEMA6D_uc001zwb.2_Intron|SEMA6D_uc001zwc.2_Intron	p.R622Q	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	18	2225	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	622			Extracellular (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.1865G>A	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558165	0.86231	.	.	ENSG00000137872	ENST00000536845;ENST00000316364;ENST00000389433	T;T;T	0.17213	2.32;2.32;2.29	5.49	5.49	0.81192	.	0.000000	0.51477	D	0.000085	T	0.11707	0.0285	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.16041	-1.0416	10	0.37606	T	0.19	.	19.7433	0.96241	0.0:0.0:1.0:0.0	.	622	Q8NFY4	SEM6D_HUMAN	Q	622;622;603	ENSP00000446152:R622Q;ENSP00000324857:R622Q;ENSP00000374084:R603Q	ENSP00000324857:R622Q	R	+	2	0	SEMA6D	45848169	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.029000	0.76477	2.733000	0.93635	0.655000	0.94253	CGG		0.428	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		13	60	0	0	0	0	13	60				
TEX9	374618	broad.mit.edu	37	15	56719843	56719843	+	Missense_Mutation	SNP	A	A	T	rs367652405		TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr15:56719843A>T	ENST00000352903.2	+	11	1028	c.1004A>T	c.(1003-1005)aAa>aTa	p.K335I	MNS1_ENST00000566386.1_Intron|TEX9_ENST00000560582.1_Intron|TEX9_ENST00000537232.1_Missense_Mutation_p.K260I	NM_198524.1	NP_940926.1	Q8N6V9	TEX9_HUMAN	testis expressed 9	335										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		GAAGTGTTAAAATCAGAAAAC	0.279																																						uc002adp.2		NA																	0					0						c.(1003-1005)AAA>ATA		testis expressed 9							56.0	63.0	61.0					15																	56719843		2182	4256	6438	SO:0001583	missense	374618							g.chr15:56719843A>T	BC028119	CCDS10157.1, CCDS66776.1	15q21.3	2007-03-13	2007-03-13		ENSG00000151575	ENSG00000151575			29585	protein-coding gene	gene with protein product			"""testis expressed sequence 9"""				Standard	XM_005254361		Approved		uc002adp.3	Q8N6V9	OTTHUMG00000132035	ENST00000352903.2:c.1004A>T	15.37:g.56719843A>T	ENSP00000342169:p.Lys335Ile					TEX9_uc010ugl.1_Missense_Mutation_p.K260I	p.K335I	NM_198524	NP_940926	Q8N6V9	TEX9_HUMAN		all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)	11	1009	+			335			Potential.		B4DH73	Missense_Mutation	SNP	ENST00000352903.2	37	c.1004A>T	CCDS10157.1	.	.	.	.	.	.	.	.	.	.	A	15.54	2.864356	0.51482	.	.	ENSG00000151575	ENST00000352903;ENST00000537232	T;T	0.78707	-1.2;-1.2	5.2	4.07	0.47477	.	0.254898	0.46442	D	0.000290	T	0.79759	0.4501	L	0.60455	1.87	0.80722	D	1	D	0.61080	0.989	P	0.55260	0.772	T	0.78899	-0.2022	10	0.59425	D	0.04	-16.1835	7.6047	0.28095	0.8309:0.0:0.1691:0.0	.	335	Q8N6V9	TEX9_HUMAN	I	335;260	ENSP00000342169:K335I;ENSP00000438745:K260I	ENSP00000342169:K335I	K	+	2	0	TEX9	54507135	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.543000	0.53633	0.920000	0.36970	0.477000	0.44152	AAA		0.279	TEX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255048.2	NM_198524		10	42	0	0	0	0	10	42				
ALDH1A2	8854	broad.mit.edu	37	15	58306120	58306120	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr15:58306120G>C	ENST00000249750.4	-	3	1066	c.299C>G	c.(298-300)tCa>tGa	p.S100*	ALDH1A2_ENST00000559517.1_Nonsense_Mutation_p.S4*|ALDH1A2_ENST00000537372.1_Nonsense_Mutation_p.S79*|ALDH1A2_ENST00000558231.1_Nonsense_Mutation_p.S71*|ALDH1A2_ENST00000347587.3_Nonsense_Mutation_p.S100*	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	100					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	TCCCCTTTCTGAAGCATCCAT	0.488																																						uc002aex.2		NA																	0				central_nervous_system(1)	1						c.(298-300)TCA>TGA		aldehyde dehydrogenase 1A2 isoform 1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						256.0	270.0	265.0					15																	58306120		2192	4292	6484	SO:0001587	stop_gained	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58306120G>C	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.299C>G	15.37:g.58306120G>C	ENSP00000249750:p.Ser100*					ALDH1A2_uc002aey.2_Nonsense_Mutation_p.S100*|ALDH1A2_uc010ugv.1_Nonsense_Mutation_p.S79*|ALDH1A2_uc010ugw.1_Nonsense_Mutation_p.S71*|ALDH1A2_uc002aew.2_Nonsense_Mutation_p.S4*	p.S100*	NM_003888	NP_003879	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	3	357	-			100					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Nonsense_Mutation	SNP	ENST00000249750.4	37	c.299C>G	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025204	0.93518	.	.	ENSG00000128918	ENST00000249750;ENST00000430119;ENST00000543386;ENST00000347587;ENST00000537372	.	.	.	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.798	0.88579	0.0:0.0:1.0:0.0	.	.	.	.	X	100;4;71;100;79	.	ENSP00000249750:S100X	S	-	2	0	ALDH1A2	56093412	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	9.263000	0.95617	2.423000	0.82170	0.650000	0.86243	TCA		0.488	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			47	149	0	0	0	0	47	149				
CSNK1G1	53944	broad.mit.edu	37	15	64495283	64495283	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr15:64495283G>C	ENST00000303052.7	-	10	1528	c.1105C>G	c.(1105-1107)Cag>Gag	p.Q369E	CSNK1G1_ENST00000303032.6_Missense_Mutation_p.Q369E|CSNK1G1_ENST00000607537.1_Missense_Mutation_p.Q369E|CTD-2116N17.1_ENST00000606793.1_Missense_Mutation_p.Q351E	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	369					Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						ACACATACCTGATTTCGAAGA	0.443																																						uc002anf.2		NA																	0					0						c.(1105-1107)CAG>GAG		casein kinase 1, gamma 1							202.0	160.0	174.0					15																	64495283		2203	4300	6503	SO:0001583	missense	53944				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:64495283G>C	AB042562	CCDS10192.2	15q22.1-q22.31	2013-01-17			ENSG00000169118	ENSG00000169118			2454	protein-coding gene	gene with protein product		606274				11124537	Standard	NM_022048		Approved	CK1gamma1	uc002anf.3	Q9HCP0	OTTHUMG00000133019	ENST00000303052.7:c.1105C>G	15.37:g.64495283G>C	ENSP00000305777:p.Gln369Glu					CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Missense_Mutation_p.Q369E|CSNK1G1_uc002anh.1_Missense_Mutation_p.Q369E|CSNK1G1_uc002anj.2_Missense_Mutation_p.Q351E	p.Q369E	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN			10	1585	-			369					Q5JPH1|Q96AE9|Q9HCP1	Missense_Mutation	SNP	ENST00000303052.7	37	c.1105C>G	CCDS10192.2	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600837	0.87055	.	.	ENSG00000169118	ENST00000303052;ENST00000447727;ENST00000303032	T;T	0.08102	3.13;3.13	5.14	5.14	0.70334	Casein kinase 1 gamma C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.28267	0.0698	M	0.73962	2.25	0.80722	D	1	P;P;B;P	0.50156	0.932;0.486;0.318;0.454	D;B;B;B	0.64506	0.926;0.268;0.297;0.41	T	0.00609	-1.1646	10	0.30078	T	0.28	.	17.9636	0.89093	0.0:0.0:1.0:0.0	.	227;369;369;369	Q9H5M4;Q9HCP0-2;Q8IXA3;Q9HCP0	.;.;.;KC1G1_HUMAN	E	369;325;369	ENSP00000305777:Q369E;ENSP00000307753:Q369E	ENSP00000307753:Q369E	Q	-	1	0	CSNK1G1	62282336	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.283000	0.95860	2.561000	0.86390	0.563000	0.77884	CAG		0.443	CSNK1G1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256605.1	NM_022048		6	10	0	0	0	0	6	10				
AEN	64782	broad.mit.edu	37	15	89169569	89169569	+	Silent	SNP	G	G	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr15:89169569G>A	ENST00000332810.3	+	2	280	c.129G>A	c.(127-129)cgG>cgA	p.R43R	AEN_ENST00000379231.3_Silent_p.R43R	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	43					intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						TCATGGCCCGGAAGGCCTTGC	0.627																																						uc002bmt.2		NA																	0					0						c.(127-129)CGG>CGA		interferon stimulated exonuclease gene							30.0	26.0	27.0					15																	89169569		2200	4299	6499	SO:0001819	synonymous_variant	64782				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding	g.chr15:89169569G>A	BC020988	CCDS10344.1	15q26.1	2008-07-15	2008-07-15	2008-07-15	ENSG00000181026	ENSG00000181026			25722	protein-coding gene	gene with protein product		610177	"""interferon stimulated exonuclease gene 20kDa-like 1"""	ISG20L1		18264133, 16171785	Standard	NM_022767		Approved	FLJ12484, FLJ12562	uc002bmt.2	Q8WTP8	OTTHUMG00000148681	ENST00000332810.3:c.129G>A	15.37:g.89169569G>A						AEN_uc010bnl.2_Silent_p.R43R|AEN_uc010bnm.1_Silent_p.R43R	p.R43R	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN			2	280	+			43					C9J571|Q9BSA5|Q9H9X7	Silent	SNP	ENST00000332810.3	37	c.129G>A	CCDS10344.1																																																																																				0.627	AEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309071.1	NM_022767		22	5	0	0	0	0	22	5				
CIB1	10519	broad.mit.edu	37	15	90771754	90771754	+	IGR	SNP	G	G	C	rs202026369		TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr15:90771754G>C	ENST00000328649.6	-	0	1247				SEMA4B_ENST00000411539.2_Missense_Mutation_p.R798P|SEMA4B_ENST00000332496.6_Missense_Mutation_p.R798P|SEMA4B_ENST00000379122.3_Intron	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCGGGGTCCCGAGTCTTCACT	0.677																																						uc002boy.2		NA																	0				ovary(1)|breast(1)|kidney(1)	3						c.(2392-2394)CGA>CCA		semaphorin 4B precursor							20.0	24.0	23.0					15																	90771754		1927	4120	6047	SO:0001628	intergenic_variant	10509							g.chr15:90771754G>C	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"""EF-hand domain containing"""	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808		15.37:g.90771754G>C						SEMA4B_uc002boz.2_Missense_Mutation_p.R798P|SEMA4B_uc010uqd.1_Missense_Mutation_p.R636P|SEMA4B_uc002bpa.2_Missense_Mutation_p.R636P|SEMA4B_uc010bnv.1_Intron	p.R798P	NM_020210	NP_064595			BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		15	2676	+	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)							B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	ENST00000328649.6	37	c.2393G>C	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365580	0.61513	.	.	ENSG00000185033	ENST00000332496;ENST00000411539	T;T	0.22945	1.93;1.93	4.75	3.84	0.44239	.	0.379906	0.25117	N	0.033017	T	0.18841	0.0452	N	0.19112	0.55	0.80722	D	1	P;P	0.51791	0.948;0.948	B;B	0.43301	0.415;0.415	T	0.03463	-1.1034	10	0.66056	D	0.02	.	12.4339	0.55588	0.0819:0.0:0.9181:0.0	.	798;793	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	P	798	ENSP00000332204:R798P;ENSP00000394720:R798P	ENSP00000332204:R798P	R	+	2	0	SEMA4B	88572758	0.653000	0.27358	0.967000	0.41034	0.641000	0.38312	2.151000	0.42263	1.355000	0.45865	0.561000	0.74099	CGA		0.677	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1			10	12	0	0	0	0	10	12				
ABCA3	21	broad.mit.edu	37	16	2333284	2333284	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr16:2333284G>C	ENST00000301732.5	-	26	4638	c.3938C>G	c.(3937-3939)tCa>tGa	p.S1313*	ABCA3_ENST00000382381.3_Nonsense_Mutation_p.S1255*	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1313					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GGCGCACCCTGAGGCGGCCAT	0.647																																						uc002cpy.1		NA																	0				breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16						c.(3937-3939)TCA>TGA		ATP-binding cassette, sub-family A member 3							48.0	57.0	54.0					16																	2333284		2198	4300	6498	SO:0001587	stop_gained	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2333284G>C	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.3938C>G	16.37:g.2333284G>C	ENSP00000301732:p.Ser1313*					ABCA3_uc010bsk.1_Nonsense_Mutation_p.S1255*	p.S1313*	NM_001089	NP_001080	Q99758	ABCA3_HUMAN			26	4650	-		Ovarian(90;0.17)	1313			Helical; (Potential).		B2RU09|Q54A95|Q6P5P9|Q92473	Nonsense_Mutation	SNP	ENST00000301732.5	37	c.3938C>G	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	G	46	12.352386	0.99660	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	.	.	.	5.78	3.71	0.42584	.	0.132745	0.50627	D	0.000103	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	7.0725	0.25187	0.0832:0.0:0.6301:0.2867	.	.	.	.	X	1313;1317	.	ENSP00000301732:S1313X	S	-	2	0	ABCA3	2273285	1.000000	0.71417	0.051000	0.19133	0.017000	0.09413	6.472000	0.73567	1.441000	0.47550	0.563000	0.77884	TCA		0.647	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		12	27	0	0	0	0	12	27				
ACSM1	116285	broad.mit.edu	37	16	20673130	20673130	+	Silent	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr16:20673130C>T	ENST00000307493.4	-	6	1045	c.978G>A	c.(976-978)caG>caA	p.Q326Q	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.Q326Q	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	326					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TGAAATCCTGCTGCAGAATCA	0.368																																						uc002dhm.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(976-978)CAG>CAA		acyl-CoA synthetase medium-chain family member							87.0	84.0	85.0					16																	20673130		2201	4300	6501	SO:0001819	synonymous_variant	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20673130C>T	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.978G>A	16.37:g.20673130C>T						ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Silent_p.Q326Q	p.Q326Q	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN			6	1046	-			326					Q08AH2|Q96A20	Silent	SNP	ENST00000307493.4	37	c.978G>A	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	C	0.045	-1.268727	0.01433	.	.	ENSG00000166743	ENST00000524149	.	.	.	4.8	2.82	0.32997	.	.	.	.	.	T	0.59074	0.2167	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54200	-0.8329	4	.	.	.	.	9.8759	0.41202	0.1578:0.6904:0.1519:0.0	.	.	.	.	N	32	.	.	S	-	2	0	ACSM1	20580631	0.817000	0.29147	0.290000	0.24890	0.144000	0.21451	0.771000	0.26633	0.726000	0.32339	-0.988000	0.02552	AGC		0.368	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		18	26	0	0	0	0	18	26				
ITGAX	3687	broad.mit.edu	37	16	31374532	31374532	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr16:31374532A>T	ENST00000268296.4	+	14	1668	c.1547A>T	c.(1546-1548)cAc>cTc	p.H516L	ITGAX_ENST00000562522.1_Missense_Mutation_p.H516L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	516					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GAGCAGGGCCACCCCTGGGGT	0.632																																						uc002ebu.1		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1546-1548)CAC>CTC		integrin alpha X precursor							101.0	110.0	107.0					16																	31374532		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31374532A>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1547A>T	16.37:g.31374532A>T	ENSP00000268296:p.His516Leu					ITGAX_uc002ebt.2_Missense_Mutation_p.H516L|ITGAX_uc010vfk.1_Missense_Mutation_p.H166L	p.H516L	NM_000887	NP_000878	P20702	ITAX_HUMAN			14	1614	+			516			Extracellular (Potential).|FG-GAP 6.		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.1547A>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	A	18.16	3.561774	0.65538	.	.	ENSG00000140678	ENST00000268296	T	0.10668	2.85	4.03	4.03	0.46877	.	.	.	.	.	T	0.28067	0.0692	M	0.72624	2.21	0.29129	N	0.879764	D	0.76494	0.999	P	0.62813	0.907	T	0.05468	-1.0883	9	0.87932	D	0	.	10.7789	0.46367	1.0:0.0:0.0:0.0	.	516	P20702	ITAX_HUMAN	L	516	ENSP00000268296:H516L	ENSP00000268296:H516L	H	+	2	0	ITGAX	31282033	0.538000	0.26394	1.000000	0.80357	0.943000	0.58893	1.727000	0.38095	1.589000	0.49982	0.377000	0.23210	CAC		0.632	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		19	80	0	0	0	0	19	80				
ZNF319	57567	broad.mit.edu	37	16	58031375	58031375	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr16:58031375C>A	ENST00000299237.2	-	2	1417	c.795G>T	c.(793-795)aaG>aaT	p.K265N	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GCTTGAAGGTCTTCTCGCAGA	0.612																																						uc002emx.1		NA																	0					0						c.(793-795)AAG>AAT		zinc finger protein 319							82.0	77.0	79.0					16																	58031375		2198	4300	6498	SO:0001583	missense	57567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58031375C>A	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.795G>T	16.37:g.58031375C>A	ENSP00000299237:p.Lys265Asn						p.K265N	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN			2	1418	-			265			C2H2-type 6.		Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	c.795G>T	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581926	0.46006	.	.	ENSG00000166188	ENST00000299237	T	0.61158	0.13	5.13	5.13	0.70059	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.75635	0.3876	M	0.82630	2.6	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	T	0.79085	-0.1948	10	0.87932	D	0	-21.485	11.1136	0.48247	0.0:0.9154:0.0:0.0846	.	265	Q9P2F9	ZN319_HUMAN	N	265	ENSP00000299237:K265N	ENSP00000299237:K265N	K	-	3	2	ZNF319	56588876	1.000000	0.71417	1.000000	0.80357	0.174000	0.22865	4.926000	0.63433	2.399000	0.81585	0.655000	0.94253	AAG		0.612	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			9	37	1	0	3.1e-07	3.53e-07	9	37				
HYDIN	54768	broad.mit.edu	37	16	70843707	70843707	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr16:70843707C>G	ENST00000393567.2	-	85	15012	c.14862G>C	c.(14860-14862)caG>caC	p.Q4954H		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4954					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATTCTGTCCTCTGCCGTGTGT	0.517																																						uc002ezr.2		NA																	0				ovary(1)|skin(1)	2						c.(14857-14859)CAG>CAC		hydrocephalus inducing isoform a							168.0	170.0	169.0					16																	70843707		1959	4145	6104	SO:0001583	missense	54768							g.chr16:70843707C>G	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.14862G>C	16.37:g.70843707C>G	ENSP00000377197:p.Gln4954His					HYDIN_uc010cfy.2_RNA	p.Q4953H	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			85	14987	-		Ovarian(137;0.0654)	4954					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.14859G>C	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336580	0.60963	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00966	5.49	5.91	5.91	0.95273	.	0.313373	0.16058	U	0.231615	T	0.05227	0.0139	M	0.77820	2.39	0.80722	D	1	D	0.61080	0.989	D	0.64410	0.925	T	0.28396	-1.0045	10	0.44086	T	0.13	.	14.4569	0.67423	0.0:0.9284:0.0:0.0716	.	4953	F8WD23	.	H	4954;4953	ENSP00000377197:Q4954H	ENSP00000313052:Q4953H	Q	-	3	2	HYDIN	69401208	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	1.970000	0.40520	2.793000	0.96121	0.655000	0.94253	CAG		0.517	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			58	94	0	0	0	0	58	94				
TP53	7157	broad.mit.edu	37	17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T	rs121912657		TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:7577124C>T	ENST00000269305.4	-	8	1003	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000420246.2_Missense_Mutation_p.V272M|TP53_ENST00000445888.2_Missense_Mutation_p.V272M|TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron	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	272	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1737852}.|V -> M (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.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	CAAACACGCACCTCAAAGCTG	0.527		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		133	Substitution - Missense(108)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)	p.V272M(67)|p.V272L(24)|p.V272E(8)|p.0?(7)|p.V272A(7)|p.V272G(4)|p.V272fs*73(4)|p.V272V(3)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(23)|ovary(16)|lung(14)|breast(14)|oesophagus(11)|upper_aerodigestive_tract(9)|haematopoietic_and_lymphoid_tissue(9)|central_nervous_system(7)|bone(5)|stomach(4)|pancreas(4)|liver(4)|kidney(3)|urinary_tract(3)|endometrium(2)|thyroid(1)|vulva(1)|soft_tissue(1)|testis(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	GRCh37	CM920676	TP53	M	rs121912657	c.(814-816)GTG>ATG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							62.0	54.0	57.0					17																	7577124		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.chr17:7577124C>T	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.814G>A	17.37:g.7577124C>T	ENSP00000269305:p.Val272Met	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_Intron|TP53_uc002gih.2_Missense_Mutation_p.V272M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V140M|TP53_uc010cng.1_Missense_Mutation_p.V140M|TP53_uc002gii.1_Missense_Mutation_p.V140M|TP53_uc010cnh.1_Missense_Mutation_p.V272M|TP53_uc010cni.1_Missense_Mutation_p.V272M|TP53_uc002gij.2_Missense_Mutation_p.V272M	p.V272M	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1008	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	272		V -> M (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|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.814G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318455	0.81469	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99833	-7.03;-7.03;-7.03;-7.03;-7.03;-7.03	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057604	0.64402	D	0.000002	D	0.99843	0.9928	M	0.90309	3.105	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.96721	0.9532	10	0.87932	D	0	-27.8222	16.1198	0.81342	0.0:1.0:0.0:0.0	.	272;272;272;272	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	M	272;272;272;272;272;261;140	ENSP00000352610:V272M;ENSP00000269305:V272M;ENSP00000398846:V272M;ENSP00000391127:V272M;ENSP00000391478:V272M;ENSP00000425104:V140M	ENSP00000269305:V272M	V	-	1	0	TP53	7517849	1.000000	0.71417	0.986000	0.45419	0.849000	0.48306	5.871000	0.69628	2.667000	0.90743	0.462000	0.41574	GTG		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	8	0	0	0	0	19	8				
ALOXE3	59344	broad.mit.edu	37	17	8017844	8017844	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:8017844G>C	ENST00000448843.2	-	6	978	c.638C>G	c.(637-639)tCa>tGa	p.S213*	ALOXE3_ENST00000318227.3_Nonsense_Mutation_p.S345*|ALOXE3_ENST00000380149.1_Nonsense_Mutation_p.S369*	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	213	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CTTGGTGGCTGAGTATCGAAC	0.552																																						uc010cnr.2		NA																	0				skin(3)|lung(1)|central_nervous_system(1)	5						c.(637-639)TCA>TGA		arachidonate lipoxygenase 3 isoform 2							187.0	146.0	160.0					17																	8017844		2203	4300	6503	SO:0001587	stop_gained	59344				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity	g.chr17:8017844G>C	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.638C>G	17.37:g.8017844G>C	ENSP00000400581:p.Ser213*					ALOXE3_uc002gka.2_Nonsense_Mutation_p.S369*|ALOXE3_uc010vuo.1_Nonsense_Mutation_p.S345*|ALOXE3_uc010vup.1_RNA	p.S213*	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN			6	1008	-			213			Lipoxygenase.		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Nonsense_Mutation	SNP	ENST00000448843.2	37	c.638C>G	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	G	40	8.393155	0.98791	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	.	.	.	5.22	5.22	0.72569	.	0.288077	0.40222	N	0.001147	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-11.0416	16.6356	0.85058	0.0:0.0:1.0:0.0	.	.	.	.	X	369;345;213	.	ENSP00000314879:S345X	S	-	2	0	ALOXE3	7958569	1.000000	0.71417	0.986000	0.45419	0.942000	0.58702	5.450000	0.66626	2.578000	0.87016	0.655000	0.94253	TCA		0.552	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			21	44	0	0	0	0	21	44				
MYOCD	93649	broad.mit.edu	37	17	12655998	12655998	+	Silent	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:12655998C>T	ENST00000343344.4	+	10	1393	c.1393C>T	c.(1393-1395)Ctg>Ttg	p.L465L	MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000425538.1_Silent_p.L465L|AC005358.1_ENST00000609971.1_Silent_p.L369L			Q8IZQ8	MYCD_HUMAN	myocardin	465	Ser-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTCCTCTGACCTGTCAGTCGC	0.612																																						uc002gnn.2		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)	5						c.(1393-1395)CTG>TTG		myocardin isoform 2							76.0	71.0	73.0					17																	12655998		2203	4300	6503	SO:0001819	synonymous_variant	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12655998C>T	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1393C>T	17.37:g.12655998C>T						MYOCD_uc002gno.2_Silent_p.L465L|MYOCD_uc002gnp.1_Silent_p.L369L|MYOCD_uc002gnq.2_Silent_p.L184L	p.L465L	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	1692	+			465			Ser-rich.		Q5UBU5|Q8N7Q1	Silent	SNP	ENST00000343344.4	37	c.1393C>T	CCDS11163.1																																																																																				0.612	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		18	79	0	0	0	0	18	79				
ULK2	9706	broad.mit.edu	37	17	19698941	19698941	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:19698941C>G	ENST00000395544.4	-	20	2594	c.2095G>C	c.(2095-2097)Gat>Cat	p.D699H	ULK2_ENST00000580130.1_5'Flank|ULK2_ENST00000361658.2_Missense_Mutation_p.D699H	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	699					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TTACCTATATCCATTGGTCGT	0.383																																						uc002gwm.3		NA																	0				skin(2)|large_intestine(1)|stomach(1)	4						c.(2095-2097)GAT>CAT		unc-51-like kinase 2							220.0	215.0	217.0					17																	19698941		2203	4300	6503	SO:0001583	missense	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19698941C>G	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.2095G>C	17.37:g.19698941C>G	ENSP00000378914:p.Asp699His					ULK2_uc002gwn.2_Missense_Mutation_p.D699H	p.D699H	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN			20	2604	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		699					A8MY69|O75119	Missense_Mutation	SNP	ENST00000395544.4	37	c.2095G>C	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705764	0.89018	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.44083	0.93;0.93	5.66	5.66	0.87406	.	0.141907	0.64402	D	0.000006	T	0.62780	0.2456	M	0.64997	1.995	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.55786	-0.8086	10	0.29301	T	0.29	-1.668	18.7488	0.91806	0.0:1.0:0.0:0.0	.	699	Q8IYT8	ULK2_HUMAN	H	699	ENSP00000354877:D699H;ENSP00000378914:D699H	ENSP00000354877:D699H	D	-	1	0	ULK2	19639533	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.205000	0.77881	2.685000	0.91497	0.655000	0.94253	GAT		0.383	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683		43	65	0	0	0	0	43	65				
ULK2	9706	broad.mit.edu	37	17	19699443	19699443	+	Silent	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:19699443C>T	ENST00000395544.4	-	19	2461	c.1962G>A	c.(1960-1962)caG>caA	p.Q654Q	ULK2_ENST00000580130.1_5'Flank|ULK2_ENST00000361658.2_Silent_p.Q654Q	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	654					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GCTCGGCCCGCTGCCTCTCAC	0.473																																						uc002gwm.3		NA																	0				skin(2)|large_intestine(1)|stomach(1)	4						c.(1960-1962)CAG>CAA		unc-51-like kinase 2							108.0	101.0	104.0					17																	19699443		2203	4300	6503	SO:0001819	synonymous_variant	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19699443C>T	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.1962G>A	17.37:g.19699443C>T						ULK2_uc002gwn.2_Silent_p.Q654Q	p.Q654Q	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN			19	2471	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		654					A8MY69|O75119	Silent	SNP	ENST00000395544.4	37	c.1962G>A	CCDS11213.1																																																																																				0.473	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683		37	47	0	0	0	0	37	47				
DHRS13	147015	broad.mit.edu	37	17	27228113	27228113	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:27228113C>A	ENST00000378895.4	-	4	703	c.577G>T	c.(577-579)Gag>Tag	p.E193*	DHRS13_ENST00000394901.3_Nonsense_Mutation_p.E143*|DHRS13_ENST00000426464.2_Nonsense_Mutation_p.E112*|DHRS13_ENST00000581974.1_5'Flank|RP11-20B24.4_ENST00000579187.1_RNA|RP11-20B24.4_ENST00000580603.1_RNA	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	193						extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GCCCGCAGCTCCTGCCGCCAG	0.632																																						uc002hde.3		NA																	0					0						c.(577-579)GAG>TAG		dehydrogenase/reductase (SDR family) member 13							57.0	64.0	61.0					17																	27228113		2203	4300	6503	SO:0001587	stop_gained	147015					extracellular region	binding|oxidoreductase activity	g.chr17:27228113C>A	BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	28326	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 5"""					12975309, 19027726	Standard	NM_144683		Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000378895.4:c.577G>T	17.37:g.27228113C>A	ENSP00000368173:p.Glu193*					DHRS13_uc002hdd.3_Nonsense_Mutation_p.E143*|DHRS13_uc010wba.1_Nonsense_Mutation_p.E112*	p.E193*	NM_144683	NP_653284	Q6UX07	DHR13_HUMAN	Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		4	704	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		193					Q96BH7	Nonsense_Mutation	SNP	ENST00000378895.4	37	c.577G>T	CCDS11246.2	.	.	.	.	.	.	.	.	.	.	C	15.69	2.909072	0.52439	.	.	ENSG00000167536	ENST00000378895;ENST00000394901;ENST00000426464	.	.	.	5.33	5.33	0.75918	.	0.513142	0.21541	N	0.072891	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	9.7431	0.40431	0.0:0.8421:0.0:0.1579	.	.	.	.	X	193;143;112	.	ENSP00000368173:E193X	E	-	1	0	DHRS13	24252239	0.086000	0.21541	1.000000	0.80357	0.973000	0.67179	1.353000	0.34045	2.487000	0.83934	0.462000	0.41574	GAG		0.632	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255952.1	NM_144683		18	39	1	0	4.35e-09	5.06e-09	18	39				
C17orf50	146853	broad.mit.edu	37	17	34093598	34093598	+	IGR	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:34093598G>C	ENST00000285023.4	+	0	1018					NM_145272.3	NP_660315.2	Q8WW18	CQ050_HUMAN	chromosome 17 open reading frame 50														Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGAGGTGGTTGCCTGCAGTTT	0.662																																						uc002hjy.1		NA																	0				skin(1)	1						c.(1483-1485)GCA>GGA		matrix metalloproteinase 28 isoform 1							19.0	21.0	20.0					17																	34093598		1979	4139	6118	SO:0001628	intergenic_variant	79148				proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr17:34093598G>C	BC021727	CCDS42298.1	17q12	2014-05-06			ENSG00000154768	ENSG00000270806			29581	protein-coding gene	gene with protein product							Standard	NM_145272		Approved		uc002hjx.3	Q8WW18	OTTHUMG00000188389		17.37:g.34093598G>C						MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA	p.A495G	NM_024302	NP_077278	Q9H239	MMP28_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	10	1743	-		Ovarian(249;0.17)	495			Hemopexin-like 4.		Q6Q621	Missense_Mutation	SNP	ENST00000285023.4	37	c.1484C>G	CCDS42298.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.257213	0.39896	.	.	ENSG00000129270	ENST00000338839	.	.	.	5.26	-5.72	0.02406	Hemopexin/matrixin (2);	0.586746	0.18948	N	0.126780	T	0.24160	0.0585	N	0.14661	0.345	0.09310	N	1	B	0.25007	0.116	B	0.20767	0.031	T	0.06679	-1.0813	9	0.87932	D	0	.	17.6586	0.88185	0.899:0.0:0.101:0.0	.	495	Q9H239	MMP28_HUMAN	G	494	.	ENSP00000340652:A494G	A	-	2	0	MMP28	31117711	0.119000	0.22226	0.001000	0.08648	0.748000	0.42578	1.082000	0.30803	-0.914000	0.03827	-0.367000	0.07326	GCA		0.662	C17orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449132.1	NM_145272		3	12	0	0	0	0	3	12				
DDX52	11056	broad.mit.edu	37	17	35986901	35986901	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:35986901G>C	ENST00000349699.2	-	7	908	c.865C>G	c.(865-867)Ctt>Gtt	p.L289V	DDX52_ENST00000394367.3_Missense_Mutation_p.L181V	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	289	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				GTAGTCACAAGAATATCTATA	0.358																																						uc002hoi.1		NA																	0				ovary(1)|skin(1)	2						c.(865-867)CTT>GTT		ATP-dependent RNA helicase ROK1 isoform a							64.0	70.0	68.0					17																	35986901		2203	4300	6503	SO:0001583	missense	11056					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr17:35986901G>C	AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"""DEAD-boxes"""	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.865C>G	17.37:g.35986901G>C	ENSP00000268854:p.Leu289Val					DDX52_uc002hoh.1_Missense_Mutation_p.L181V	p.L289V	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN			7	903	-		Breast(25;0.00637)|Ovarian(249;0.15)	289			Helicase ATP-binding.		Q86YG1|Q8N213|Q9NVE0|Q9Y482	Missense_Mutation	SNP	ENST00000349699.2	37	c.865C>G	CCDS11323.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791818	0.90453	.	.	ENSG00000141141	ENST00000349699;ENST00000394367	T;T	0.12774	2.65;2.65	5.93	5.93	0.95920	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.062736	0.64402	D	0.000004	T	0.28167	0.0695	L	0.31804	0.96	0.80722	D	1	D	0.65815	0.995	D	0.68943	0.961	T	0.00458	-1.1727	10	0.56958	D	0.05	.	19.3421	0.94347	0.0:0.0:1.0:0.0	.	289	Q9Y2R4	DDX52_HUMAN	V	289;181	ENSP00000268854:L289V;ENSP00000377893:L181V	ENSP00000268854:L289V	L	-	1	0	DDX52	33061014	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.164000	0.71885	2.826000	0.97356	0.655000	0.94253	CTT		0.358	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1	NM_152300		9	34	0	0	0	0	9	34				
ZPBP2	124626	broad.mit.edu	37	17	38032946	38032946	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:38032946C>G	ENST00000348931.4	+	8	1092	c.901C>G	c.(901-903)Cct>Gct	p.P301A	ZPBP2_ENST00000584588.1_Missense_Mutation_p.P228A|ZPBP2_ENST00000377940.3_Missense_Mutation_p.P279A	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	301					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGTTTGTAGTCCTGCGACTTT	0.373																																						uc002hte.2		NA																	0				ovary(1)	1						c.(901-903)CCT>GCT		zona pellucida binding protein 2 isoform 2							182.0	174.0	177.0					17																	38032946		2203	4300	6503	SO:0001583	missense	124626				binding of sperm to zona pellucida	extracellular region		g.chr17:38032946C>G	BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.901C>G	17.37:g.38032946C>G	ENSP00000335384:p.Pro301Ala					ZPBP2_uc002htf.2_Missense_Mutation_p.P279A	p.P301A	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)		8	1054	+	Colorectal(19;0.000442)		301					A8K8L8|Q6X783|Q86XL5	Missense_Mutation	SNP	ENST00000348931.4	37	c.901C>G	CCDS11352.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267748	0.40095	.	.	ENSG00000186075	ENST00000348931;ENST00000377940	T;T	0.67523	-0.27;-0.27	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000006	D	0.82884	0.5134	M	0.77313	2.365	0.45791	D	0.998672	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83960	0.0321	10	0.87932	D	0	-15.2584	18.189	0.89800	0.0:1.0:0.0:0.0	.	279;301	Q6X784-2;Q6X784	.;ZPBP2_HUMAN	A	301;279	ENSP00000335384:P301A;ENSP00000367174:P279A	ENSP00000335384:P301A	P	+	1	0	ZPBP2	35286472	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.583000	0.60964	2.826000	0.97356	0.655000	0.94253	CCT		0.373	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256609.2	NM_198844		24	89	0	0	0	0	24	89				
KRT10	3858	broad.mit.edu	37	17	38976763	38976763	+	Splice_Site	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:38976763C>G	ENST00000269576.5	-	3	876	c.867G>C	c.(865-867)gaG>gaC	p.E289D	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	289	Coil 1B.|Gly-rich.|Rod.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				TTTGTGTCACCTCCTCGTGGT	0.468																																						uc002hvi.2		NA																	0					0						c.(865-867)GAG>GAC		keratin 10							147.0	150.0	149.0					17																	38976763		2203	4300	6503	SO:0001630	splice_region_variant	3858				epidermis development		protein binding|structural constituent of epidermis	g.chr17:38976763C>G	J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.867+1G>C	17.37:g.38976763C>G						KRT10_uc010cxd.2_5'Flank|TMEM99_uc002hvj.1_Intron	p.E289D	NM_000421	NP_000412	P13645	K1C10_HUMAN			3	893	-		Breast(137;0.000301)	289			Coil 1B.|Rod.|Gly-rich.		Q14664|Q8N175	Missense_Mutation	SNP	ENST00000269576.5	37	c.867G>C	CCDS11377.1	.	.	.	.	.	.	.	.	.	.	C	35	5.595092	0.96602	.	.	ENSG00000186395	ENST00000269576	D	0.86865	-2.18	5.84	5.84	0.93424	Filament (1);	0.000000	0.36740	N	0.002426	D	0.95046	0.8396	M	0.90650	3.135	0.80722	D	1	P	0.35433	0.501	P	0.57548	0.823	D	0.93486	0.6831	9	.	.	.	.	20.1533	0.98095	0.0:1.0:0.0:0.0	.	289	P13645	K1C10_HUMAN	D	289	ENSP00000269576:E289D	.	E	-	3	2	KRT10	36230289	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.773000	0.85462	2.758000	0.94735	0.655000	0.94253	GAG		0.468	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421	Missense_Mutation	9	67	0	0	0	0	9	67				
FZD2	2535	broad.mit.edu	37	17	42636331	42636331	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:42636331C>G	ENST00000315323.3	+	1	1407	c.1275C>G	c.(1273-1275)ttC>ttG	p.F425L		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	425					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGTACCTGTTCATCGGCACGT	0.637																																						uc002igx.1		NA																	0				ovary(2)|lung(1)	3						c.(1273-1275)TTC>TTG		frizzled 2 precursor							102.0	95.0	98.0					17																	42636331		2203	4300	6503	SO:0001583	missense	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42636331C>G	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1275C>G	17.37:g.42636331C>G	ENSP00000323901:p.Phe425Leu						p.F425L	NM_001466	NP_001457	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	1407	+		Prostate(33;0.0181)	425			Helical; Name=5; (Potential).		Q0VG82	Missense_Mutation	SNP	ENST00000315323.3	37	c.1275C>G	CCDS11484.1	.	.	.	.	.	.	.	.	.	.	c	12.14	1.849018	0.32699	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	T	0.80653	-1.4	5.24	5.24	0.73138	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.67571	0.2907	N	0.11724	0.165	0.80722	D	1	B	0.09022	0.002	B	0.14023	0.01	T	0.61667	-0.7016	10	0.21014	T	0.42	.	18.433	0.90633	0.0:1.0:0.0:0.0	.	425	Q14332	FZD2_HUMAN	L	501;425	ENSP00000323901:F425L	ENSP00000323901:F425L	F	+	3	2	FZD2	39991857	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.077000	0.57598	2.436000	0.82500	0.561000	0.74099	TTC		0.637	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		12	51	0	0	0	0	12	51				
INTS2	57508	broad.mit.edu	37	17	59962319	59962319	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:59962319G>C	ENST00000444766.3	-	16	2131	c.2056C>G	c.(2056-2058)Cag>Gag	p.Q686E	INTS2_ENST00000251334.6_Missense_Mutation_p.Q678E	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	686					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						ATAGGAATCTGATCCATTAAA	0.333																																						uc002izn.2		NA																	0				ovary(1)|lung(1)|pancreas(1)	3						c.(2056-2058)CAG>GAG		integrator complex subunit 2							58.0	56.0	57.0					17																	59962319		1829	4093	5922	SO:0001583	missense	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59962319G>C	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.2056C>G	17.37:g.59962319G>C	ENSP00000414237:p.Gln686Glu					INTS2_uc002izm.2_Missense_Mutation_p.Q678E	p.Q686E	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN			16	2132	-			686					Q9ULD3	Missense_Mutation	SNP	ENST00000444766.3	37	c.2056C>G	CCDS45750.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268871	0.40095	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.39787	1.06	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.33644	0.0870	N	0.21373	0.66	0.80722	D	1	P	0.36171	0.541	B	0.38106	0.265	T	0.07271	-1.0781	9	.	.	.	-6.6274	17.9827	0.89146	0.0:0.0:1.0:0.0	.	686	Q9H0H0	INT2_HUMAN	E	686;685	ENSP00000414237:Q686E	.	Q	-	1	0	INTS2	57317101	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	8.931000	0.92884	2.545000	0.85829	0.555000	0.69702	CAG		0.333	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		7	7	0	0	0	0	7	7				
SGSH	6448	broad.mit.edu	37	17	78184560	78184560	+	Silent	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr17:78184560C>T	ENST00000326317.6	-	8	1286	c.1200G>A	c.(1198-1200)caG>caA	p.Q400Q	SGSH_ENST00000534910.1_Silent_p.Q197Q	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	400					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CGTAGAAGTCCTGGTCGATGG	0.602																																						uc002jxz.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1198-1200)CAG>CAA		N-sulfoglucosamine sulfohydrolase precursor							209.0	187.0	194.0					17																	78184560		2203	4300	6503	SO:0001819	synonymous_variant	6448				proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity	g.chr17:78184560C>T	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.1200G>A	17.37:g.78184560C>T						SGSH_uc002jya.3_Silent_p.Q197Q|SGSH_uc002jxy.2_3'UTR	p.Q400Q	NM_000199	NP_000190	P51688	SPHM_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		8	1287	-	all_neural(118;0.0952)		400					A8K5E2	Silent	SNP	ENST00000326317.6	37	c.1200G>A	CCDS11770.1																																																																																				0.602	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		25	46	0	0	0	0	25	46				
FBN3	84467	broad.mit.edu	37	19	8154783	8154783	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr19:8154783C>A	ENST00000600128.1	-	50	6659	c.6245G>T	c.(6244-6246)cGa>cTa	p.R2082L	FBN3_ENST00000601739.1_Missense_Mutation_p.R2082L|FBN3_ENST00000270509.2_Missense_Mutation_p.R2082L			Q75N90	FBN3_HUMAN	fibrillin 3	2082						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTCACCTTCTCGGGAGTCATC	0.647																																						uc002mjf.2		NA																	0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(6244-6246)CGA>CTA		fibrillin 3 precursor							25.0	28.0	27.0					19																	8154783		2202	4297	6499	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8154783C>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6245G>T	19.37:g.8154783C>A	ENSP00000470498:p.Arg2082Leu					FBN3_uc002mje.2_5'UTR	p.R2082L	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			49	6266	-			2082					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.6245G>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026328	0.54683	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.87571	-2.27	3.83	2.77	0.32553	Matrix fibril-associated (1);	0.238731	0.35407	U	0.003238	D	0.84192	0.5418	N	0.11427	0.14	0.45403	D	0.998382	D	0.71674	0.998	D	0.79108	0.992	T	0.79725	-0.1683	10	0.21014	T	0.42	.	11.6573	0.51325	0.0:0.9111:0.0:0.0889	.	2082	Q75N90	FBN3_HUMAN	L	2082;188	ENSP00000270509:R2082L	ENSP00000270509:R2082L	R	-	2	0	FBN3	8060783	0.982000	0.34865	0.439000	0.26833	0.659000	0.38960	4.226000	0.58606	0.710000	0.31997	0.462000	0.41574	CGA		0.647	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		5	3	1	0	1.24e-05	1.37e-05	5	3				
CACNA1A	773	broad.mit.edu	37	19	13409899	13409899	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr19:13409899C>T	ENST00000360228.5	-	19	2547	c.2548G>A	c.(2548-2550)Ggc>Agc	p.G850S	CACNA1A_ENST00000573710.2_Missense_Mutation_p.G851S	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	851					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.G851C(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CGCTGCTGGCCGAGGCGCTGG	0.721																																						uc010dze.2		NA																	3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(2551-2553)GGC>AGC		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						15.0	22.0	20.0					19																	13409899		1923	4103	6026	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13409899C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2548G>A	19.37:g.13409899C>T	ENSP00000353362:p.Gly850Ser					CACNA1A_uc010dzc.2_Missense_Mutation_p.G376S|CACNA1A_uc002mwy.3_Missense_Mutation_p.G850S|CACNA1A_uc010xne.1_Missense_Mutation_p.G379S	p.G851S	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		19	2787	-			851			Cytoplasmic (Potential).		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.2551G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	6.795	0.515690	0.12944	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95238	-3.65	4.43	1.97	0.26223	.	1.903700	0.03280	N	0.185969	D	0.84871	0.5568	N	0.08118	0	0.19300	N	0.999977	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.77202	-0.2674	10	0.08599	T	0.76	.	2.6194	0.04912	0.4926:0.3175:0.0:0.1898	.	851;854;850	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	S	850;854;851;851	ENSP00000353362:G850S	ENSP00000317661:G851S	G	-	1	0	CACNA1A	13270899	0.000000	0.05858	0.819000	0.32651	0.186000	0.23388	0.133000	0.15912	0.809000	0.34255	0.313000	0.20887	GGC		0.721	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		10	10	0	0	0	0	10	10				
BRD4	23476	broad.mit.edu	37	19	15355574	15355574	+	Splice_Site	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr19:15355574C>T	ENST00000263377.2	-	12	2380		c.e12-1			NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4						cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGAGCCATCTCTGCAGAGGAA	0.547			T	C15orf55	lethal midline carcinoma of young people																																	uc002nar.2		NA		Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	NUT|C15orf55		lethal midline carcinoma of young people		0				ovary(2)	2						c.e12-1		bromodomain-containing protein 4 isoform long							98.0	99.0	99.0					19																	15355574		2203	4300	6503	SO:0001630	splice_region_variant	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15355574C>T	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.2159-1G>A	19.37:g.15355574C>T							p.E720_splice	NM_058243	NP_490597	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		12	2381	-								O60433|Q4G0X8|Q86YS8|Q96PD3	Splice_Site	SNP	ENST00000263377.2	37	c.2159_splice	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366882	0.61513	.	.	ENSG00000141867	ENST00000263377	.	.	.	4.48	2.23	0.28157	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8418	0.35146	0.1698:0.6663:0.1639:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRD4	15216574	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.623000	0.67757	0.298000	0.22638	0.561000	0.74099	.		0.547	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243	Intron	37	75	0	0	0	0	37	75				
ZNF382	84911	broad.mit.edu	37	19	37117054	37117054	+	Silent	SNP	T	T	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr19:37117054T>C	ENST00000292928.2	+	5	368	c.255T>C	c.(253-255)gaT>gaC	p.D85D	ZNF382_ENST00000435416.1_Silent_p.D84D|ZNF382_ENST00000423582.1_Silent_p.D36D|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000439428.1_Silent_p.D84D	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	85	Mediates interaction with TRIM28. {ECO:0000250}.|Represses transcription. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAACTGAAGATGTCTTAGTGA	0.343																																						uc002oek.2		NA																	0					0						c.(253-255)GAT>GAC		zinc finger protein 382							52.0	52.0	52.0					19																	37117054		2203	4298	6501	SO:0001819	synonymous_variant	84911				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37117054T>C	AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.255T>C	19.37:g.37117054T>C						ZNF382_uc010efa.2_Silent_p.D36D|ZNF382_uc010efb.2_Silent_p.D84D|ZNF382_uc002oel.2_Silent_p.D84D	p.D85D	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	368	+	Esophageal squamous(110;0.198)		85			Mediates interaction with TRIM28 (By similarity).|Represses transcription (By similarity).		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Silent	SNP	ENST00000292928.2	37	c.255T>C	CCDS33004.1																																																																																				0.343	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825		16	36	0	0	0	0	16	36				
EPN1	29924	broad.mit.edu	37	19	56203256	56203256	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr19:56203256C>T	ENST00000270460.6	+	7	1210	c.899C>T	c.(898-900)cCt>cTt	p.P300L	EPN1_ENST00000411543.2_Missense_Mutation_p.P386L|AC010525.4_ENST00000585559.1_RNA|EPN1_ENST00000085079.7_Missense_Mutation_p.P275L	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	300	8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GGCGGCCCCCCTGTCCCTCCA	0.751																																						uc002qlw.2		NA																	0					0						c.(898-900)CCT>CTT		epsin 1 isoform b							11.0	14.0	13.0					19																	56203256		1773	3996	5769	SO:0001583	missense	29924				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	g.chr19:56203256C>T	AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.899C>T	19.37:g.56203256C>T	ENSP00000270460:p.Pro300Leu					EPN1_uc002qlv.2_Missense_Mutation_p.P275L|EPN1_uc010etd.2_Missense_Mutation_p.P300L|EPN1_uc002qlx.2_Missense_Mutation_p.P386L	p.P300L	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN		GBM - Glioblastoma multiforme(193;0.112)	7	1241	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	300			Ala/Gly/Pro-rich.|8 X 3 AA repeats of [ED]-P-W.		Q86ST3|Q9HA18	Missense_Mutation	SNP	ENST00000270460.6	37	c.899C>T	CCDS46199.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578266	0.28180	.	.	ENSG00000063245	ENST00000270460;ENST00000085079;ENST00000544375;ENST00000411543	T;T;T	0.15603	2.49;2.43;2.41	3.58	2.54	0.30619	.	0.629889	0.15170	N	0.276719	T	0.16981	0.0408	M	0.62723	1.935	0.54753	D	0.999984	B;B;B;B	0.22683	0.001;0.073;0.001;0.001	B;B;B;B	0.22601	0.003;0.04;0.003;0.006	T	0.03139	-1.1068	10	0.23891	T	0.37	-0.1939	8.4477	0.32852	0.0:0.8852:0.0:0.1148	.	261;386;300;275	B4DU91;Q9Y6I3-1;Q9Y6I3;Q9Y6I3-3	.;.;EPN1_HUMAN;.	L	300;275;261;386	ENSP00000270460:P300L;ENSP00000085079:P275L;ENSP00000406209:P386L	ENSP00000085079:P275L	P	+	2	0	EPN1	60895068	0.050000	0.20438	0.242000	0.24170	0.498000	0.33706	1.785000	0.38684	0.871000	0.35750	0.462000	0.41574	CCT		0.751	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	NM_013333		12	37	0	0	0	0	12	37				
ZNF324B	388569	broad.mit.edu	37	19	58965127	58965127	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr19:58965127C>G	ENST00000336614.4	+	2	166	c.59C>G	c.(58-60)aCa>aGa	p.T20R	ZNF324B_ENST00000545523.1_Missense_Mutation_p.T20R|ZNF324B_ENST00000594214.1_Missense_Mutation_p.T20R|ZNF324B_ENST00000391696.1_5'UTR	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	20	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(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTCCTGGACACAGCGCAGAGG	0.572																																						uc002qsv.1		NA																	0				ovary(1)	1						c.(58-60)ACA>AGA		zinc finger protein 324B							141.0	102.0	115.0					19																	58965127		2203	4300	6503	SO:0001583	missense	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58965127C>G	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.59C>G	19.37:g.58965127C>G	ENSP00000337473:p.Thr20Arg					ZNF324B_uc002qsu.1_5'UTR|ZNF324B_uc010euq.1_Missense_Mutation_p.T20R	p.T20R	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	2	166	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	20			KRAB.		B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	ENST00000336614.4	37	c.59C>G	CCDS33138.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.468451	0.26335	.	.	ENSG00000249471	ENST00000336614;ENST00000545523	T;T	0.01725	4.67;4.67	2.99	0.533	0.17121	Krueppel-associated box (4);	1.895510	0.03033	N	0.152326	T	0.02267	0.0070	L	0.31476	0.935	0.09310	N	0.999997	P	0.41748	0.761	B	0.42798	0.398	T	0.35151	-0.9800	10	0.72032	D	0.01	.	2.8366	0.05516	0.2665:0.5597:0.0:0.1737	.	20	Q6AW86	Z324B_HUMAN	R	20	ENSP00000337473:T20R;ENSP00000438930:T20R	ENSP00000337473:T20R	T	+	2	0	ZNF324B	63656939	0.000000	0.05858	0.000000	0.03702	0.415000	0.31203	-0.272000	0.08560	-0.025000	0.13918	0.467000	0.42956	ACA		0.572	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		21	49	0	0	0	0	21	49				
ADAM17	6868	broad.mit.edu	37	2	9642395	9642395	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:9642395T>A	ENST00000310823.3	-	13	1737	c.1555A>T	c.(1555-1557)Agt>Tgt	p.S519C		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	519	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CAGCAAGGACTGTTCCTGTCA	0.468																																						uc002qzu.2		NA																	0				lung(1)|kidney(1)	2						c.(1555-1557)AGT>TGT		a disintegrin and metalloprotease domain 17							148.0	141.0	143.0					2																	9642395		2203	4300	6503	SO:0001583	missense	6868				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	g.chr2:9642395T>A	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.1555A>T	2.37:g.9642395T>A	ENSP00000309968:p.Ser519Cys					ADAM17_uc010ewy.2_Missense_Mutation_p.S519C|ADAM17_uc010ewz.2_Intron	p.S519C	NM_003183	NP_003174	P78536	ADA17_HUMAN		Epithelial(75;0.225)	13	1738	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		519			Disintegrin.|Extracellular (Potential).		O60226	Missense_Mutation	SNP	ENST00000310823.3	37	c.1555A>T	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.587964	0.86851	.	.	ENSG00000151694	ENST00000310823	T	0.12465	2.68	5.16	5.16	0.70880	Blood coagulation inhibitor, Disintegrin (5);	0.000000	0.85682	D	0.000000	T	0.42063	0.1186	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.47045	-0.9147	10	0.62326	D	0.03	.	14.9916	0.71393	0.0:0.0:0.0:1.0	.	519;519	B2RNB2;P78536	.;ADA17_HUMAN	C	519	ENSP00000309968:S519C	ENSP00000309968:S519C	S	-	1	0	ADAM17	9559846	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.694000	0.84235	1.929000	0.55896	0.379000	0.24179	AGT		0.468	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			43	40	0	0	0	0	43	40				
YWHAQ	10971	broad.mit.edu	37	2	9728378	9728378	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:9728378G>C	ENST00000381844.4	-	3	661	c.498C>G	c.(496-498)atC>atG	p.I166M	YWHAQ_ENST00000238081.3_Missense_Mutation_p.I166M|YWHAQ_ENST00000474715.1_5'UTR			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta	166					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|protein complex (GO:0043234)	protein N-terminus binding (GO:0047485)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		GCCCCAGGCGGATTGGGTGTG	0.428																																						uc002qzw.2		NA																	0				breast(1)	1						c.(496-498)ATC>ATG		tyrosine 3/tryptophan 5 -monooxygenase							105.0	102.0	103.0					2																	9728378		2203	4300	6503	SO:0001583	missense	10971				negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding	g.chr2:9728378G>C	AF070556	CCDS1666.1	2p25.2-p25.1	2013-12-03	2013-12-03		ENSG00000134308	ENSG00000134308			12854	protein-coding gene	gene with protein product	"""protein tau"""	609009	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide"""			11080204	Standard	NM_006826		Approved	HS1, 14-3-3	uc002qzx.3	P27348	OTTHUMG00000013848	ENST00000381844.4:c.498C>G	2.37:g.9728378G>C	ENSP00000371267:p.Ile166Met					YWHAQ_uc002qzx.2_Missense_Mutation_p.I166M	p.I166M	NM_006826	NP_006817	P27348	1433T_HUMAN		Epithelial(75;0.241)	3	662	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		166					D6W4Z5|Q567U5|Q5TZU8|Q9UP48	Missense_Mutation	SNP	ENST00000381844.4	37	c.498C>G	CCDS1666.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328587	0.60743	.	.	ENSG00000134308	ENST00000238081;ENST00000381844;ENST00000539979	T;T	0.52526	0.66;0.66	5.56	1.18	0.20946	14-3-3 domain (4);	0.068749	0.56097	D	0.000032	T	0.67534	0.2903	M	0.92412	3.305	0.45567	D	0.998511	D	0.89917	1.0	D	0.79108	0.992	T	0.64622	-0.6364	10	0.87932	D	0	.	2.845	0.05540	0.4514:0.0:0.3489:0.1996	.	166	P27348	1433T_HUMAN	M	166;166;131	ENSP00000238081:I166M;ENSP00000371267:I166M	ENSP00000238081:I166M	I	-	3	3	YWHAQ	9645829	0.994000	0.37717	0.998000	0.56505	0.986000	0.74619	0.378000	0.20569	0.402000	0.25451	-0.269000	0.10298	ATC		0.428	YWHAQ-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039014.4	NM_006826		26	21	0	0	0	0	26	21				
C2orf16	84226	broad.mit.edu	37	2	27803934	27803934	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:27803934G>C	ENST00000408964.2	+	1	4546	c.4495G>C	c.(4495-4497)Gag>Cag	p.E1499Q	ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000556601.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000416005.2_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1499						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTCCAGCCAGGAGTCTAAGAA	0.478																																						uc002rkz.3		NA																	0				large_intestine(1)	1						c.(4495-4497)GAG>CAG		hypothetical protein LOC84226							83.0	84.0	84.0					2																	27803934		1850	4096	5946	SO:0001583	missense	84226							g.chr2:27803934G>C	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.4495G>C	2.37:g.27803934G>C	ENSP00000386190:p.Glu1499Gln					ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	p.E1499Q	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	4546	+	Acute lymphoblastic leukemia(172;0.155)		1499					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.4495G>C	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166686	0.38217	.	.	ENSG00000221843	ENST00000408964	T	0.61627	0.09	3.55	1.73	0.24493	.	.	.	.	.	T	0.54398	0.1856	L	0.27053	0.805	0.09310	N	0.999998	D	0.65815	0.995	P	0.58721	0.844	T	0.40327	-0.9569	9	0.59425	D	0.04	.	5.7236	0.18000	0.2498:0.0:0.7502:0.0	.	1499	Q68DN1	CB016_HUMAN	Q	1499	ENSP00000386190:E1499Q	ENSP00000386190:E1499Q	E	+	1	0	C2orf16	27657438	0.000000	0.05858	0.210000	0.23637	0.037000	0.13140	0.207000	0.17395	0.492000	0.27815	-0.379000	0.06801	GAG		0.478	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		34	71	0	0	0	0	34	71				
ALK	238	broad.mit.edu	37	2	30143411	30143411	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:30143411G>A	ENST00000389048.3	-	1	1021	c.115C>T	c.(115-117)Cag>Tag	p.Q39*	ALK_ENST00000431873.1_Nonsense_Mutation_p.Q39*	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	39					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TCCCGGGGCTGCAGCGGCGGC	0.706			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002rmy.2		NA	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	0				haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(115-117)CAG>TAG		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						16.0	18.0	17.0					2																	30143411		2191	4286	6477	SO:0001587	stop_gained	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:30143411G>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.115C>T	2.37:g.30143411G>A	ENSP00000373700:p.Gln39*						p.Q39*	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			1	1022	-	Acute lymphoblastic leukemia(172;0.155)		39			Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Nonsense_Mutation	SNP	ENST00000389048.3	37	c.115C>T	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	G	47	13.664354	0.99756	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4916	0.84202	0.0:0.0:1.0:0.0	.	.	.	.	X	39	.	.	Q	-	1	0	ALK	29996915	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.331000	0.43894	2.558000	0.86282	0.561000	0.74099	CAG		0.706	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		4	12	0	0	0	0	4	12				
HEATR5B	54497	broad.mit.edu	37	2	37310507	37310507	+	Silent	SNP	G	G	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:37310507G>A	ENST00000233099.5	-	2	146	c.51C>T	c.(49-51)atC>atT	p.I17I	GPATCH11_ENST00000409774.1_5'Flank|GPATCH11_ENST00000281932.5_5'Flank|GPATCH11_ENST00000608836.1_5'Flank|HEATR5B_ENST00000354531.2_Silent_p.I17I	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	17						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TTGCTTCGGTGATTTGAGCCA	0.363																																						uc002rpp.1		NA																	0				ovary(5)|skin(2)|breast(1)	8						c.(49-51)ATC>ATT		HEAT repeat containing 5B							118.0	108.0	112.0					2																	37310507		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37310507G>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.51C>T	2.37:g.37310507G>A						CCDC75_uc010ezz.2_5'Flank|CCDC75_uc002rpr.3_5'Flank	p.I17I	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			2	147	-		all_hematologic(82;0.21)	17					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.51C>T	CCDS33181.1																																																																																				0.363	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		14	38	0	0	0	0	14	38				
GPR39	2863	broad.mit.edu	37	2	133402786	133402786	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:133402786G>T	ENST00000329321.3	+	2	1438	c.969G>T	c.(967-969)atG>atT	p.M323I	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	323					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGGCGTACATGATCCTCCTCC	0.587																																						uc002ttl.2		NA																	0					0						c.(967-969)ATG>ATT		G protein-coupled receptor 39							125.0	100.0	108.0					2																	133402786		2203	4300	6503	SO:0001583	missense	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133402786G>T	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.969G>T	2.37:g.133402786G>T	ENSP00000327417:p.Met323Ile					LYPD1_uc002ttm.3_3'UTR|LYPD1_uc002ttn.2_3'UTR|LYPD1_uc002tto.2_3'UTR	p.M323I	NM_001508	NP_001499	O43194	GPR39_HUMAN			2	1438	+			323			Helical; Name=7; (Potential).		B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	c.969G>T	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.508321	0.27036	.	.	ENSG00000183840	ENST00000329321	T	0.71698	-0.59	5.23	5.23	0.72850	GPCR, rhodopsin-like superfamily (1);	0.368675	0.32372	N	0.006188	T	0.52565	0.1742	N	0.11756	0.17	0.80722	D	1	B	0.15141	0.012	B	0.15870	0.014	T	0.47045	-0.9147	10	0.22109	T;T	0.4;0.4	.	14.8285	0.70130	0.0:0.1846:0.8154:0.0	.	323	O43194	GPR39_HUMAN	I	323	ENSP00000327417:M323I	ENSP00000327417:M323I;ENSP00000327417:M323I	M	+	3	0	GPR39	133119256	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.530000	0.36007	2.738000	0.93877	0.650000	0.86243	ATG		0.587	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			21	45	1	0	1.98e-07	2.26e-07	21	45				
SCRN3	79634	broad.mit.edu	37	2	175263019	175263019	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:175263019C>A	ENST00000272732.6	+	2	90	c.8C>A	c.(7-9)cCt>cAt	p.P3H	CIR1_ENST00000362053.5_5'Flank|SCRN3_ENST00000409673.3_Intron|CIR1_ENST00000342016.3_5'Flank	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	3							dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			AAAATGGAACCTTTTTCCTGT	0.289																																						uc002uiq.2		NA																	0				ovary(1)	1						c.(7-9)CCT>CAT		secernin 3							55.0	59.0	58.0					2																	175263019		2199	4300	6499	SO:0001583	missense	79634				proteolysis		dipeptidase activity	g.chr2:175263019C>A	AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.8C>A	2.37:g.175263019C>A	ENSP00000272732:p.Pro3His					CIR1_uc002uim.2_5'Flank|CIR1_uc002uin.2_5'Flank|CIR1_uc002uio.2_5'Flank|CIR1_uc002uip.2_5'Flank|SCRN3_uc010zen.1_Intron|SCRN3_uc010zeo.1_5'UTR|SCRN3_uc002uir.1_RNA	p.P3H	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.229)		2	96	+			3					B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Missense_Mutation	SNP	ENST00000272732.6	37	c.8C>A	CCDS2258.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804355	0.70682	.	.	ENSG00000144306	ENST00000458563;ENST00000272732;ENST00000435964;ENST00000424069;ENST00000427038;ENST00000548031	T;T;T;T;T	0.36699	2.08;2.76;1.24;1.27;2.02	6.06	3.31	0.37934	.	0.195579	0.56097	D	0.000029	T	0.53433	0.1796	M	0.80183	2.485	0.47698	D	0.999499	D	0.65815	0.995	P	0.57244	0.816	T	0.58335	-0.7654	10	0.66056	D	0.02	-5.3119	10.5798	0.45248	0.0:0.7371:0.0:0.2629	.	3	Q0VDG4	SCRN3_HUMAN	H	3	ENSP00000396884:P3H;ENSP00000272732:P3H;ENSP00000402086:P3H;ENSP00000408376:P3H;ENSP00000446727:P3H	ENSP00000272732:P3H	P	+	2	0	SCRN3	174971265	0.991000	0.36638	1.000000	0.80357	0.951000	0.60555	2.897000	0.48664	0.917000	0.36895	0.643000	0.83706	CCT		0.289	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	NM_024583		6	55	1	0	0.00116845	0.00123763	6	55				
GPR155	151556	broad.mit.edu	37	2	175330545	175330545	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:175330545T>C	ENST00000392552.2	-	7	1590	c.1352A>G	c.(1351-1353)tAc>tGc	p.Y451C	GPR155_ENST00000295500.4_Missense_Mutation_p.Y451C|GPR155_ENST00000392551.2_Missense_Mutation_p.Y451C	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	451					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						GAGGGAGCTGTACAATAGAAC	0.388																																						uc002uit.2		NA																	0				ovary(1)	1						c.(1351-1353)TAC>TGC		G protein-coupled receptor 155 isoform 9							52.0	54.0	53.0					2																	175330545		2203	4300	6503	SO:0001583	missense	151556				intracellular signal transduction|transmembrane transport	integral to membrane		g.chr2:175330545T>C	AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.1352A>G	2.37:g.175330545T>C	ENSP00000376335:p.Tyr451Cys					GPR155_uc002uiu.2_Missense_Mutation_p.Y451C|GPR155_uc002uiv.2_Missense_Mutation_p.Y451C|GPR155_uc010fqs.2_Missense_Mutation_p.Y423C	p.Y451C	NM_001033045	NP_001028217	Q7Z3F1	GP155_HUMAN			8	1743	-			451			Helical; (Potential).		B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	ENST00000392552.2	37	c.1352A>G	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.025209	0.35701	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.45668	0.89;0.89;0.89	6.02	6.02	0.97574	.	0.228496	0.48286	D	0.000191	T	0.42585	0.1209	L	0.59436	1.845	0.58432	D	0.999995	B	0.24317	0.101	B	0.23018	0.043	T	0.26883	-1.0090	10	0.48119	T	0.1	-9.2636	15.1204	0.72438	0.0:0.0:0.0:1.0	.	451	Q7Z3F1	GP155_HUMAN	C	451	ENSP00000376335:Y451C;ENSP00000376334:Y451C;ENSP00000295500:Y451C	ENSP00000295500:Y451C	Y	-	2	0	GPR155	175038791	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.984000	0.40658	2.299000	0.77371	0.528000	0.53228	TAC		0.388	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		5	15	0	0	0	0	5	15				
MSTN	2660	broad.mit.edu	37	2	190927237	190927237	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:190927237T>C	ENST00000260950.4	-	1	218	c.86A>G	c.(85-87)cAa>cGa	p.Q29R	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	29					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			ATTTTCTTTTTGCTCACTGTT	0.348																																						uc002urp.2		NA																	0				lung(1)	1						c.(85-87)CAA>CGA		myostatin precursor							159.0	155.0	156.0					2																	190927237		2203	4299	6502	SO:0001583	missense	2660				muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:190927237T>C	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.86A>G	2.37:g.190927237T>C	ENSP00000260950:p.Gln29Arg						p.Q29R	NM_005259	NP_005250	O14793	GDF8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)		1	219	-			29					A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	ENST00000260950.4	37	c.86A>G	CCDS2303.1	.	.	.	.	.	.	.	.	.	.	T	9.187	1.024985	0.19433	.	.	ENSG00000138379	ENST00000260950	T	0.69040	-0.37	5.64	3.26	0.37387	.	0.709922	0.14660	N	0.306021	T	0.47581	0.1453	N	0.20986	0.625	0.24878	N	0.992245	B	0.06786	0.001	B	0.08055	0.003	T	0.27839	-1.0062	10	0.18710	T	0.47	-1.7515	7.7004	0.28619	0.0:0.0769:0.3337:0.5894	.	29	O14793	GDF8_HUMAN	R	29	ENSP00000260950:Q29R	ENSP00000260950:Q29R	Q	-	2	0	MSTN	190635482	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	1.870000	0.39529	0.552000	0.29026	0.528000	0.53228	CAA		0.348	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259		35	74	0	0	0	0	35	74				
CLK1	1195	broad.mit.edu	37	2	201726085	201726085	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:201726085C>G	ENST00000321356.4	-	3	401	c.266G>C	c.(265-267)cGc>cCc	p.R89P	CLK1_ENST00000434813.2_Missense_Mutation_p.R131P|Y_RNA_ENST00000516950.1_RNA|CLK1_ENST00000492793.1_5'UTR	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	89					cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GTCTCTTTGGCGATGTCCAGG	0.403																																						uc002uwe.2		NA																	0				pancreas(2)	2						c.(265-267)CGC>CCC		CDC-like kinase 1 isoform 1							161.0	158.0	159.0					2																	201726085		2203	4300	6503	SO:0001583	missense	1195				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr2:201726085C>G	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.266G>C	2.37:g.201726085C>G	ENSP00000326830:p.Arg89Pro					CLK1_uc010zhi.1_Missense_Mutation_p.R131P|CLK1_uc002uwf.2_5'UTR|CLK1_uc002uwg.2_5'UTR|CLK1_uc010fsv.2_RNA	p.R89P	NM_004071	NP_004062	P49759	CLK1_HUMAN			3	447	-			89					B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	c.266G>C	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	C	1.168	-0.641790	0.03531	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000434813	T;T	0.68331	-0.28;-0.32	4.66	-1.19	0.09585	.	0.686177	0.14138	N	0.338910	T	0.39517	0.1081	N	0.10809	0.05	0.18873	N	0.999989	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.16719	-1.0393	10	0.40728	T	0.16	.	4.753	0.13070	0.0:0.252:0.1883:0.5597	.	131;89	B4DFW7;P49759	.;CLK1_HUMAN	P	89;89;131	ENSP00000326830:R89P;ENSP00000394734:R131P	ENSP00000326830:R89P	R	-	2	0	CLK1	201434330	0.003000	0.15002	0.917000	0.36280	0.195000	0.23768	0.095000	0.15127	-0.087000	0.12528	-0.808000	0.03180	CGC		0.403	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			50	101	0	0	0	0	50	101				
USP37	57695	broad.mit.edu	37	2	219362475	219362475	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:219362475G>C	ENST00000258399.3	-	13	1675	c.1263C>G	c.(1261-1263)ttC>ttG	p.F421L	USP37_ENST00000418019.1_Missense_Mutation_p.F421L|USP37_ENST00000454775.1_Missense_Mutation_p.F421L|USP37_ENST00000415516.1_Missense_Mutation_p.F349L|RN7SKP38_ENST00000410782.1_RNA	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	421	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TATAACCAGAGAATCTCTCTG	0.393																																						uc002vie.2		NA																	0				skin(3)|ovary(1)|prostate(1)	5						c.(1261-1263)TTC>TTG		ubiquitin specific peptidase 37							127.0	128.0	128.0					2																	219362475		2202	4300	6502	SO:0001583	missense	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219362475G>C	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.1263C>G	2.37:g.219362475G>C	ENSP00000258399:p.Phe421Leu					USP37_uc010fvs.1_Missense_Mutation_p.F421L|USP37_uc010zkf.1_Missense_Mutation_p.F421L|USP37_uc002vif.2_Missense_Mutation_p.F421L|USP37_uc002vig.2_Missense_Mutation_p.F349L	p.F421L	NM_020935	NP_065986	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	13	1716	-		Renal(207;0.0915)	421					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	c.1263C>G	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022982	0.75275	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	5.48	4.61	0.57282	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.049031	0.85682	D	0.000000	T	0.53769	0.1817	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.56432	-0.7980	10	0.87932	D	0	-4.1675	12.2319	0.54492	0.1416:0.0:0.8584:0.0	.	349;421	Q86T82-2;Q86T82	.;UBP37_HUMAN	L	421;421;349;421	ENSP00000258399:F421L;ENSP00000393662:F421L;ENSP00000400902:F349L;ENSP00000396585:F421L	ENSP00000258399:F421L	F	-	3	2	USP37	219070719	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	4.403000	0.59729	1.326000	0.45319	-0.271000	0.10264	TTC		0.393	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		21	38	0	0	0	0	21	38				
C2orf83	56918	broad.mit.edu	37	2	228476316	228476316	+	Missense_Mutation	SNP	C	C	T	rs111332429		TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:228476316C>T	ENST00000264387.4	-	3	333	c.247G>A	c.(247-249)Gta>Ata	p.V83I	C2orf83_ENST00000409066.1_3'UTR	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	83					transport (GO:0006810)	membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						CATGTCTGTACGGTAAGTTTC	0.468													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19316	0.0		0.0	False		,,,				2504	0.0					uc002vph.2		NA																	0					0						c.(247-249)GTA>ATA		hypothetical protein LOC56918 isoform 1		C	,ILE/VAL	10,4396	16.8+/-37.8	0,10,2193	87.0	92.0	90.0		,247	-0.5	0.0	2	dbSNP_132	90	0,8600		0,0,4300	yes	utr-3,missense	C2orf83	NM_001162483.1,NM_020161.3	,29	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	,benign	,83/151	228476316	10,12996	2203	4300	6503	SO:0001583	missense	56918					membrane	folic acid binding|reduced folate carrier activity	g.chr2:228476316C>T		CCDS33388.1, CCDS54434.1	2q36.3	2008-09-16			ENSG00000042304	ENSG00000042304			25344	protein-coding gene	gene with protein product							Standard	NM_020161		Approved	DKFZp547H025	uc002vph.3	Q53S99	OTTHUMG00000153550	ENST00000264387.4:c.247G>A	2.37:g.228476316C>T	ENSP00000264387:p.Val83Ile					C2orf83_uc010zlu.1_3'UTR	p.V83I	NM_020161	NP_064546	Q53S99	CB083_HUMAN			3	482	-			83					A2RRG6|B8ZZI8|Q9NPW4	Missense_Mutation	SNP	ENST00000264387.4	37	c.247G>A	CCDS33388.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.501	1.103294	0.20632	0.00227	0.0	ENSG00000042304	ENST00000264387	T	0.59638	0.25	2.38	-0.461	0.12172	.	.	.	.	.	T	0.35335	0.0928	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.24368	-1.0162	9	0.72032	D	0.01	.	5.1469	0.14989	0.0:0.5472:0.0:0.4528	.	83	Q53S99	CB083_HUMAN	I	83	ENSP00000264387:V83I	ENSP00000264387:V83I	V	-	1	0	C2orf83	228184560	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.706000	0.05047	-0.133000	0.11537	-0.219000	0.12488	GTA		0.468	C2orf83-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331607.1	NM_020161		22	38	0	0	0	0	22	38				
DNER	92737	broad.mit.edu	37	2	230272008	230272008	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:230272008C>G	ENST00000341772.4	-	10	1797	c.1663G>C	c.(1663-1665)Gga>Cga	p.G555R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	555	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Follistatin-like.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.G555*(1)|p.G555R(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CAGGTGGCTCCGTTCAGACAG	0.512																																						uc002vpv.2		NA																	2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(2)	lung(5)|ovary(2)|skin(1)	8						c.(1663-1665)GGA>CGA		delta-notch-like EGF repeat-containing							137.0	121.0	126.0					2																	230272008		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230272008C>G	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1663G>C	2.37:g.230272008C>G	ENSP00000345229:p.Gly555Arg						p.G555R	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	10	1810	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	555			Extracellular (Potential).|Follistatin-like.|EGF-like 9.		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.1663G>C	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444667	0.83993	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.86297	-2.1	5.6	5.6	0.85130	Follistatin-like, N-terminal (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.049136	0.85682	D	0.000000	D	0.93507	0.7928	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.93935	0.7218	10	0.87932	D	0	.	18.3815	0.90452	0.0:1.0:0.0:0.0	.	555	Q8NFT8	DNER_HUMAN	R	555;273	ENSP00000345229:G555R	ENSP00000345229:G555R	G	-	1	0	DNER	229980252	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.681000	0.68175	2.642000	0.89623	0.563000	0.77884	GGA		0.512	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		18	79	0	0	0	0	18	79				
STK25	10494	broad.mit.edu	37	2	242441064	242441064	+	Silent	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr2:242441064C>T	ENST00000316586.4	-	3	439	c.90G>A	c.(88-90)tcG>tcA	p.S30S	STK25_ENST00000478403.1_5'Flank|STK25_ENST00000543554.1_5'UTR|STK25_ENST00000405585.1_Intron|STK25_ENST00000535007.1_5'UTR|STK25_ENST00000401869.1_Silent_p.S30S|STK25_ENST00000405883.3_Intron|STK25_ENST00000403346.3_Silent_p.S30S	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	30	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CCTCCCCAAACGAGCCCTTGC	0.612																																					NSCLC(99;1100 1566 7679 28647 48345)	uc002wbm.2		NA																	0					0						c.(88-90)TCG>TCA		serine/threonine kinase 25							179.0	138.0	152.0					2																	242441064		2203	4300	6503	SO:0001819	synonymous_variant	10494				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr2:242441064C>T	D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"""serine/threonine kinase 25 (Ste20, yeast homolog)"""			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.90G>A	2.37:g.242441064C>T						STK25_uc002wbk.2_5'Flank|STK25_uc002wbl.2_5'Flank|STK25_uc002wbn.2_Silent_p.S30S|STK25_uc002wbo.2_Intron|STK25_uc010zos.1_5'UTR|STK25_uc010zot.1_5'UTR|STK25_uc002wbp.2_Silent_p.S30S|STK25_uc010fzo.2_Intron|STK25_uc010zou.1_5'UTR|STK25_uc010zov.1_5'UTR|STK25_uc010zow.1_Silent_p.S30S	p.S30S	NM_006374	NP_006365	O00506	STK25_HUMAN		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	2	361	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	30			ATP (By similarity).|Protein kinase.		A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Silent	SNP	ENST00000316586.4	37	c.90G>A	CCDS2549.1																																																																																				0.612	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374		5	73	0	0	0	0	5	73				
SOGA1	140710	broad.mit.edu	37	20	35444329	35444329	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr20:35444329C>G	ENST00000357779.3	-	5	1128	c.802G>C	c.(802-804)Ggg>Cgg	p.G268R	SOGA1_ENST00000237536.4_Missense_Mutation_p.G506R|SOGA1_ENST00000456801.2_Missense_Mutation_p.G109R|SOGA1_ENST00000279034.6_Missense_Mutation_p.G268R			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	268					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						AAGCTCTCCCCGCACTCTCCG	0.662																																						uc002xgd.1		NA																	0					0						c.(802-804)GGG>CGG		hypothetical protein LOC140710 isoform 2							36.0	43.0	41.0					20																	35444329		2157	4253	6410	SO:0001583	missense	140710							g.chr20:35444329C>G	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.802G>C	20.37:g.35444329C>G	ENSP00000350424:p.Gly268Arg					C20orf117_uc002xge.1_RNA	p.G268R	NM_199181	NP_954650	O94964	K0889_HUMAN			5	1129	-		Myeloproliferative disorder(115;0.00874)	268					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.802G>C		.	.	.	.	.	.	.	.	.	.	C	16.01	3.000323	0.54147	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.18810	2.2;2.2;2.25;2.19	5.24	4.3	0.51218	.	0.303544	0.32301	N	0.006290	T	0.24122	0.0584	N	0.14661	0.345	0.41241	D	0.986647	D	0.62365	0.991	D	0.64877	0.93	T	0.05835	-1.0861	10	0.18276	T	0.48	-55.9132	12.7227	0.57152	0.0:0.9197:0.0:0.0803	.	268	O94964-4	.	R	506;268;109;268	ENSP00000237536:G506R;ENSP00000279034:G268R;ENSP00000413886:G109R;ENSP00000350424:G268R	ENSP00000237536:G506R	G	-	1	0	KIAA0889	34877743	0.978000	0.34361	0.997000	0.53966	0.685000	0.39939	2.532000	0.45659	1.440000	0.47531	0.655000	0.94253	GGG		0.662	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		4	5	0	0	0	0	4	5				
PRDM15	63977	broad.mit.edu	37	21	43258051	43258051	+	Silent	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr21:43258051C>T	ENST00000269844.3	-	15	2201	c.2091G>A	c.(2089-2091)tcG>tcA	p.S697S	PRDM15_ENST00000538201.1_Silent_p.S331S|PRDM15_ENST00000422911.1_Silent_p.S368S|PRDM15_ENST00000398548.1_Silent_p.S368S|PRDM15_ENST00000447207.2_Silent_p.S331S	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	697					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						ACTTTGGAACCGAGCTGGTGT	0.627																																						uc002yzq.1		NA																	0					0						c.(2089-2091)TCG>TCA		PR domain containing 15 isoform 1							130.0	100.0	110.0					21																	43258051		2203	4300	6503	SO:0001819	synonymous_variant	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43258051C>T	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.2091G>A	21.37:g.43258051C>T						PRDM15_uc002yzo.2_Silent_p.S368S|PRDM15_uc002yzp.2_Silent_p.S368S|PRDM15_uc002yzr.1_Silent_p.S368S	p.S697S	NM_022115	NP_071398	P57071	PRD15_HUMAN			15	2202	-			697					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Silent	SNP	ENST00000269844.3	37	c.2091G>A	CCDS13676.1																																																																																				0.627	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		23	52	0	0	0	0	23	52				
POTEH	23784	broad.mit.edu	37	22	16279217	16279217	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr22:16279217T>A	ENST00000343518.6	-	4	1057	c.1006A>T	c.(1006-1008)Aat>Tat	p.N336Y	RNU6-816P_ENST00000390914.1_RNA|POTEH-AS1_ENST00000422014.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	336										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCCAGTGCATTTAAATTTGCT	0.313																																						uc010gqp.2		NA																	0				skin(1)	1						c.(1006-1008)AAT>TAT		ANKRD26-like family C, member 3																																				SO:0001583	missense	23784							g.chr22:16279217T>A	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1006A>T	22.37:g.16279217T>A	ENSP00000340610:p.Asn336Tyr					POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_Missense_Mutation_p.N55Y|POTEH_uc002zlj.1_Missense_Mutation_p.N171Y	p.N336Y	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			4	1058	-			336			ANK 5.		A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.1006A>T	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	10.15	1.270184	0.23221	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	T	0.63255	-0.03	1.38	-1.63	0.08345	Ankyrin repeat-containing domain (4);	0.294592	0.18871	U	0.128859	T	0.77678	0.4166	M	0.93197	3.39	0.09310	N	1	D;D	0.67145	0.971;0.996	D;D	0.67725	0.914;0.953	T	0.67150	-0.5743	10	0.87932	D	0	.	5.3418	0.15988	0.0:0.0:0.4252:0.5748	.	336;299	Q6S545;A6NKF6	POTEH_HUMAN;.	Y	299;336	ENSP00000340610:N336Y	ENSP00000340610:N336Y	N	-	1	0	POTEH	14659217	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	0.391000	0.20784	-0.343000	0.08351	0.147000	0.16070	AAT		0.313	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		29	221	0	0	0	0	29	221				
ZDHHC8	29801	broad.mit.edu	37	22	20130547	20130547	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr22:20130547T>C	ENST00000334554.7	+	10	1535	c.1394T>C	c.(1393-1395)tTt>tCt	p.F465S	ZDHHC8_ENST00000405930.3_Missense_Mutation_p.F465S|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.F373S	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	465					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CGTAGCATTTTTGCCCCCCAT	0.701																																						uc002zrq.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1393-1395)TTT>TCT		zinc finger, DHHC domain containing 8							21.0	25.0	24.0					22																	20130547		2195	4280	6475	SO:0001583	missense	29801					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr22:20130547T>C	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"""Zinc fingers, DHHC-type"""	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.1394T>C	22.37:g.20130547T>C	ENSP00000334490:p.Phe465Ser					ZDHHC8_uc002zrr.1_Missense_Mutation_p.F465S|ZDHHC8_uc010gsa.2_Missense_Mutation_p.F271S	p.F465S	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN			10	1500	+	Colorectal(54;0.0993)		465			Cytoplasmic (Potential).		Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Missense_Mutation	SNP	ENST00000334554.7	37	c.1394T>C	CCDS13776.1	.	.	.	.	.	.	.	.	.	.	.	19.45	3.829838	0.71258	.	.	ENSG00000099904	ENST00000334554;ENST00000320602;ENST00000405930	T;T;T	0.73575	1.26;-0.76;1.22	4.78	4.78	0.61160	.	0.796952	0.11490	N	0.558881	D	0.83408	0.5248	M	0.61703	1.905	0.80722	D	1	B;P;D	0.89917	0.196;0.941;1.0	B;P;D	0.72982	0.01;0.808;0.979	T	0.77081	-0.2720	10	0.21540	T	0.41	.	14.2983	0.66329	0.0:0.0:0.0:1.0	.	373;465;465	Q9ULC8-2;Q9ULC8-3;Q9ULC8	.;.;ZDHC8_HUMAN	S	465;373;465	ENSP00000334490:F465S;ENSP00000317804:F373S;ENSP00000384716:F465S	ENSP00000317804:F373S	F	+	2	0	ZDHHC8	18510547	1.000000	0.71417	0.956000	0.39512	0.885000	0.51271	7.651000	0.83577	1.798000	0.52647	0.397000	0.26171	TTT		0.701	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		6	62	0	0	0	0	6	62				
LIF	3976	broad.mit.edu	37	22	30639706	30639706	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr22:30639706C>G	ENST00000249075.3	-	3	698	c.543G>C	c.(541-543)aaG>aaC	p.K181N	RP1-102K2.8_ENST00000608354.1_RNA|RP1-102K2.8_ENST00000593843.1_RNA|LIF_ENST00000403987.3_3'UTR	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	181					blood vessel remodeling (GO:0001974)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|immune response (GO:0006955)|leukemia inhibitory factor signaling pathway (GO:0048861)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|multicellular organismal development (GO:0007275)|muscle organ morphogenesis (GO:0048644)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|neuron development (GO:0048666)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cell proliferation (GO:0008284)|positive regulation of histone H3-K27 acetylation (GO:1901676)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|spongiotrophoblast differentiation (GO:0060708)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|leukemia inhibitory factor receptor binding (GO:0005146)|receptor binding (GO:0005102)|RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001135)			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			AGCCCAGCTTCTTCTTCTGGA	0.572																																						uc003agz.2		NA																	0					0						c.(541-543)AAG>AAC		leukemia inhibitory factor (cholinergic							139.0	127.0	131.0					22																	30639706		2203	4300	6503	SO:0001583	missense	3976				immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding	g.chr22:30639706C>G		CCDS13872.1, CCDS58799.1	22q12.2	2012-02-09	2012-02-09		ENSG00000128342	ENSG00000128342			6596	protein-coding gene	gene with protein product	"""differentiation inhibitory activity"", ""differentiation-inducing factor"", ""hepatocyte-stimulating factor III"", ""cholinergic differentiation factor"", ""human interleukin in DA cells"""	159540				1714745, 8058719	Standard	NM_002309		Approved	CDF, DIA, HILDA	uc003agz.3	P15018	OTTHUMG00000150910	ENST00000249075.3:c.543G>C	22.37:g.30639706C>G	ENSP00000249075:p.Lys181Asn					LIF_uc011aks.1_3'UTR|uc003aha.2_5'Flank	p.K181N	NM_002309	NP_002300	P15018	LIF_HUMAN	Epithelial(10;0.171)		3	655	-			181					B2RCW7|B5MC23|Q52LZ2	Missense_Mutation	SNP	ENST00000249075.3	37	c.543G>C	CCDS13872.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027921	0.75390	.	.	ENSG00000128342	ENST00000249075	D	0.85629	-2.01	4.99	1.04	0.20106	Leukemia inhibitory factor /oncostatin, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.086460	0.45867	D	0.000339	D	0.88991	0.6588	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86313	0.1687	10	0.87932	D	0	-35.9012	5.9886	0.19448	0.0:0.6613:0.1511:0.1876	.	181	P15018	LIF_HUMAN	N	181	ENSP00000249075:K181N	ENSP00000249075:K181N	K	-	3	2	LIF	28969706	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.954000	0.29175	0.362000	0.24319	0.561000	0.74099	AAG		0.572	LIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320508.1	NM_002309		30	87	0	0	0	0	30	87				
GGA1	26088	broad.mit.edu	37	22	38016337	38016337	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr22:38016337C>G	ENST00000343632.4	+	5	782	c.396C>G	c.(394-396)atC>atG	p.I132M	GGA1_ENST00000325180.8_Missense_Mutation_p.I132M|GGA1_ENST00000381756.5_Missense_Mutation_p.I149M|GGA1_ENST00000337437.4_Missense_Mutation_p.I99M|GGA1_ENST00000406772.1_Missense_Mutation_p.I59M	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	132	Interaction with ARF3.|VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					AGGTGAAAATCGCAGAGGCCT	0.612																																						uc003atc.2		NA																	0				breast(2)|ovary(1)	3						c.(394-396)ATC>ATG		golgi associated, gamma adaptin ear containing,							95.0	95.0	95.0					22																	38016337		2203	4300	6503	SO:0001583	missense	26088				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	g.chr22:38016337C>G	AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.396C>G	22.37:g.38016337C>G	ENSP00000341344:p.Ile132Met					GGA1_uc003atd.2_Missense_Mutation_p.I132M|GGA1_uc003ate.2_Missense_Mutation_p.I132M|GGA1_uc003atf.2_Missense_Mutation_p.I59M	p.I132M	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN			5	761	+	Melanoma(58;0.0574)		132			Interaction with ARF3.|VHS.		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	ENST00000343632.4	37	c.396C>G	CCDS13951.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.687764	0.68157	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000429218;ENST00000325180;ENST00000337437;ENST00000439161;ENST00000449944;ENST00000453208;ENST00000406772;ENST00000413251;ENST00000423024	T;T;T;T;T;T;T;T;T;T	0.48522	1.55;1.55;1.55;1.55;0.81;1.55;1.55;1.55;1.55;1.55	5.45	-8.95	0.00765	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.000000	0.85682	D	0.000000	T	0.58637	0.2136	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.66360	-0.5943	10	0.87932	D	0	-21.3226	3.0839	0.06271	0.2356:0.1906:0.079:0.4948	.	149;132;132	Q6IC75;Q86YA9;Q9UJY5	.;.;GGA1_HUMAN	M	132;149;59;132;99;59;124;59;59;59;59	ENSP00000341344:I132M;ENSP00000371175:I149M;ENSP00000403534:I59M;ENSP00000321288:I132M;ENSP00000338647:I99M;ENSP00000390416:I124M;ENSP00000416153:I59M;ENSP00000385287:I59M;ENSP00000411373:I59M;ENSP00000414413:I59M	ENSP00000321288:I132M	I	+	3	3	GGA1	36346283	0.000000	0.05858	0.691000	0.30163	0.954000	0.61252	-2.915000	0.00696	-1.398000	0.02066	0.561000	0.74099	ATC		0.612	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	NM_013365		24	84	0	0	0	0	24	84				
CSNK1E	1454	broad.mit.edu	37	22	38694865	38694865	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr22:38694865G>C	ENST00000396832.1	-	7	1071	c.811C>G	c.(811-813)Cag>Gag	p.Q271E	CSNK1E_ENST00000405675.3_Missense_Mutation_p.Q271E|CSNK1E_ENST00000403904.1_Missense_Mutation_p.Q271E|CSNK1E_ENST00000413574.2_Missense_Mutation_p.Q271E|CSNK1E_ENST00000359867.3_Missense_Mutation_p.Q271E|CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000400206.2_Missense_Mutation_p.Q271E	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	271	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					CGGAAGAGCTGACGTAGGTAA	0.547											OREG0026559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)	uc003avj.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(811-813)CAG>GAG		casein kinase 1 epsilon							196.0	180.0	186.0					22																	38694865		2203	4300	6503	SO:0001583	missense	1454				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr22:38694865G>C		CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.811C>G	22.37:g.38694865G>C	ENSP00000380044:p.Gln271Glu		OREG0026559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	880	CSNK1E_uc003avk.2_Missense_Mutation_p.Q271E|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Missense_Mutation_p.Q271E|CSNK1E_uc003avo.2_Missense_Mutation_p.Q271E|CSNK1E_uc003avp.1_Missense_Mutation_p.Q271E|CSNK1E_uc003avq.1_Missense_Mutation_p.Q271E	p.Q271E	NM_152221	NP_689407	P49674	KC1E_HUMAN			7	1072	-	Melanoma(58;0.045)		271			Protein kinase.			Missense_Mutation	SNP	ENST00000396832.1	37	c.811C>G	CCDS13970.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908907	0.72868	.	.	ENSG00000213923	ENST00000359867;ENST00000396832;ENST00000402865;ENST00000400206;ENST00000403904;ENST00000413574;ENST00000405675	T;T;T;T;T;T	0.06142	3.34;3.34;3.34;3.34;3.34;3.34	4.95	4.95	0.65309	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.059877	0.64402	D	0.000001	T	0.09992	0.0245	L	0.46885	1.475	0.80722	D	1	B;B;P	0.47409	0.006;0.262;0.895	B;B;B	0.42319	0.008;0.261;0.383	T	0.03394	-1.1041	10	0.87932	D	0	.	18.2244	0.89913	0.0:0.0:1.0:0.0	.	271;271;271	B0QY35;B0QY34;P49674	.;.;KC1E_HUMAN	E	271	ENSP00000352929:Q271E;ENSP00000380044:Q271E;ENSP00000383067:Q271E;ENSP00000384074:Q271E;ENSP00000407235:Q271E;ENSP00000384426:Q271E	ENSP00000352929:Q271E	Q	-	1	0	CSNK1E	37024811	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.826000	0.99387	2.294000	0.77228	0.655000	0.94253	CAG		0.547	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321462.1	NM_001894		41	122	0	0	0	0	41	122				
TTC14	151613	broad.mit.edu	37	3	180328289	180328289	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr3:180328289G>A	ENST00000296015.4	+	12	2404	c.2272G>A	c.(2272-2274)Gct>Act	p.A758T	TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	758							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TAATCAGATAGCTGAATTTGA	0.313																																						uc003fkk.2		NA																	0				ovary(1)	1						c.(2272-2274)GCT>ACT		tetratricopeptide repeat domain 14 isoform a							36.0	44.0	41.0					3																	180328289		2176	4271	6447	SO:0001583	missense	151613						RNA binding	g.chr3:180328289G>A	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.2272G>A	3.37:g.180328289G>A	ENSP00000296015:p.Ala758Thr					TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Intron	p.A758T	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		12	2404	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		758					G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.2272G>A	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064976	0.93898	.	.	ENSG00000163728	ENST00000296015	T	0.19669	2.13	5.92	5.92	0.95590	.	0.107605	0.64402	D	0.000006	T	0.39989	0.1099	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.11251	-1.0595	10	0.87932	D	0	-15.4403	20.3151	0.98650	0.0:0.0:1.0:0.0	.	758	Q96N46	TTC14_HUMAN	T	758	ENSP00000296015:A758T	ENSP00000296015:A758T	A	+	1	0	TTC14	181810983	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.617000	0.90927	2.809000	0.96659	0.467000	0.42956	GCT		0.313	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		8	86	0	0	0	0	8	86				
MCF2L2	23101	broad.mit.edu	37	3	183006931	183006931	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr3:183006931C>T	ENST00000328913.3	-	14	2050	c.1753G>A	c.(1753-1755)Gat>Aat	p.D585N	MCF2L2_ENST00000447025.2_Missense_Mutation_p.D585N|MCF2L2_ENST00000473233.1_Missense_Mutation_p.D585N|B3GNT5_ENST00000462559.1_Intron|MCF2L2_ENST00000414362.2_Missense_Mutation_p.D585N	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	585							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTAGTCTCATCATCTTCCTTT	0.403																																						uc003fli.1		NA																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.(1753-1755)GAT>AAT		Rho family guanine-nucleotide exchange factor							73.0	70.0	71.0					3																	183006931		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183006931C>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1753G>A	3.37:g.183006931C>T	ENSP00000328118:p.Asp585Asn					MCF2L2_uc003flj.1_Missense_Mutation_p.D585N|MCF2L2_uc011bqr.1_RNA|uc003fln.1_Intron	p.D585N	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		14	1843	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		585					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.1753G>A	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	2.351	-0.348891	0.05208	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000437431;ENST00000414362	T;T;T;T	0.05199	4.64;4.66;3.79;3.48	3.36	1.54	0.23209	.	1.175750	0.06060	N	0.658269	T	0.04952	0.0133	L	0.34521	1.04	0.09310	N	1	B;B	0.12013	0.0;0.005	B;B	0.10450	0.005;0.002	T	0.46830	-0.9163	10	0.10636	T	0.68	.	4.1165	0.10084	0.2293:0.6468:0.0:0.1238	.	585;585	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	N	585;585;585;121;585	ENSP00000328118:D585N;ENSP00000420070:D585N;ENSP00000388190:D585N;ENSP00000414131:D585N	ENSP00000328118:D585N	D	-	1	0	MCF2L2	184489625	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.092000	0.11129	0.433000	0.26313	-0.152000	0.13540	GAT		0.403	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		21	33	0	0	0	0	21	33				
MUC4	4585	broad.mit.edu	37	3	195516484	195516484	+	Missense_Mutation	SNP	G	G	C	rs3749330	byFrequency	TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr3:195516484G>C	ENST00000463781.3	-	2	2426	c.1967C>G	c.(1966-1968)tCc>tGc	p.S656C	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S656C|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	661					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)			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)		AGTCATGGGGGAGACGGACCT	0.562																																						uc011bto.1		NA																	0					0						c.(1966-1968)TCC>TGC		mucin 4 isoform a							196.0	207.0	203.0					3																	195516484		2070	4199	6269	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.chr3:195516484G>C	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.1967C>G	3.37:g.195516484G>C	ENSP00000417498:p.Ser656Cys					MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.S538C	p.S656C	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	2427	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	661					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.1967C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	3.116	-0.181691	0.06340	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.48836	0.8;0.82	2.48	1.52	0.23074	.	2.038600	0.02881	U	0.132900	T	0.56077	0.1961	L	0.43923	1.385	0.09310	N	1	D;D	0.67145	0.991;0.996	P;P	0.61533	0.89;0.839	T	0.33085	-0.9882	10	0.44086	T	0.13	-0.0414	4.8202	0.13387	0.2:0.0:0.8:0.0	.	656;661	E7ESK3;Q99102	.;MUC4_HUMAN	C	656;656;630	ENSP00000417498:S656C;ENSP00000420243:S656C	ENSP00000376209:S630C	S	-	2	0	MUC4	197000879	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.524000	0.06222	0.525000	0.28522	0.627000	0.83407	TCC		0.562	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		12	172	0	0	0	0	12	172				
FAM193A	8603	broad.mit.edu	37	4	2717749	2717749	+	Splice_Site	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr4:2717749G>C	ENST00000324666.5	+	19	3973		c.e19-1		FAM193A_ENST00000382839.3_Splice_Site|FAM193A_ENST00000545951.1_Splice_Site|FAM193A_ENST00000505311.1_Splice_Site|FAM193A_ENST00000502458.1_Splice_Site	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A											NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TTGTTTTACAGATGATGTCTT	0.378																																						uc010icl.2		NA																	0				ovary(3)	3						c.e19-1		hypothetical protein LOC8603							183.0	175.0	178.0					4																	2717749		2203	4300	6503	SO:0001630	splice_region_variant	8603							g.chr4:2717749G>C	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.3623-1G>C	4.37:g.2717749G>C						FAM193A_uc010ick.2_Splice_Site_p.D1367_splice|FAM193A_uc003gfd.2_Splice_Site_p.D1167_splice|FAM193A_uc011bvm.1_Splice_Site_p.D1189_splice|FAM193A_uc011bvn.1_Splice_Site_p.D1167_splice|FAM193A_uc011bvo.1_Splice_Site|FAM193A_uc010icm.2_Splice_Site	p.D1208_splice	NM_003704	NP_003695	P78312	F193A_HUMAN			19	3974	+								B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Splice_Site	SNP	ENST00000324666.5	37	c.3623_splice	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448873	0.84101	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0366	0.89305	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM193A	2687547	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.464000	0.90380	2.605000	0.88082	0.591000	0.81541	.		0.378	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704	Intron	28	52	0	0	0	0	28	52				
RBPJ	3516	broad.mit.edu	37	4	26432465	26432465	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr4:26432465G>C	ENST00000361572.6	+	11	1533	c.1339G>C	c.(1339-1341)Gaa>Caa	p.E447Q	RBPJ_ENST00000348160.4_Missense_Mutation_p.E434Q|RBPJ_ENST00000504907.1_3'UTR|RBPJ_ENST00000355476.3_Missense_Mutation_p.E433Q|RBPJ_ENST00000342320.4_Missense_Mutation_p.E433Q|RBPJ_ENST00000342295.1_Missense_Mutation_p.E447Q|RBPJ_ENST00000345843.3_Missense_Mutation_p.E432Q|RBPJ_ENST00000507561.1_Missense_Mutation_p.E412Q			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	447					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				CTACACACCAGAACCAGGGCC	0.527																																						uc003grx.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1339-1341)GAA>CAA		recombining binding protein suppressor of							60.0	63.0	62.0					4																	26432465		2203	4300	6503	SO:0001583	missense	3516				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	g.chr4:26432465G>C	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.1339G>C	4.37:g.26432465G>C	ENSP00000354528:p.Glu447Gln					RBPJ_uc003gry.1_Missense_Mutation_p.E432Q|RBPJ_uc003grz.1_Missense_Mutation_p.E447Q|RBPJ_uc003gsa.1_Missense_Mutation_p.E433Q|RBPJ_uc003gsb.1_Missense_Mutation_p.E434Q|RBPJ_uc003gsc.1_3'UTR|uc003gsd.2_5'Flank	p.E447Q	NM_005349	NP_005340	Q06330	SUH_HUMAN			12	1575	+		Breast(46;0.0503)	447					B4DY22|Q5XKH9|Q6P1N3	Missense_Mutation	SNP	ENST00000361572.6	37	c.1339G>C	CCDS3437.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715215	0.68844	.	.	ENSG00000168214	ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000342320;ENST00000504423	T;T;T;T;T;T;T;T	0.38887	1.14;1.11;1.11;1.14;1.14;1.15;1.14;2.26	5.51	5.51	0.81932	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.47135	0.1429	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.63880	0.987;0.993;0.993;0.987	B;P;P;P	0.50659	0.445;0.647;0.647;0.525	T	0.42649	-0.9439	10	0.52906	T	0.07	-21.3528	19.3944	0.94601	0.0:0.0:1.0:0.0	.	434;433;432;447	B4DY22;Q06330-6;Q06330-4;Q06330	.;.;.;SUH_HUMAN	Q	432;447;447;434;433;412;433;133	ENSP00000305815:E432Q;ENSP00000345206:E447Q;ENSP00000354528:E447Q;ENSP00000339699:E434Q;ENSP00000347659:E433Q;ENSP00000423907:E412Q;ENSP00000340124:E433Q;ENSP00000421804:E133Q	ENSP00000345206:E447Q	E	+	1	0	RBPJ	26041563	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	9.434000	0.97515	2.598000	0.87819	0.655000	0.94253	GAA		0.527	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		17	41	0	0	0	0	17	41				
LPHN3	23284	broad.mit.edu	37	4	62849282	62849282	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr4:62849282C>T	ENST00000514591.1	+	18	3322	c.2993C>T	c.(2992-2994)tCa>tTa	p.S998L	LPHN3_ENST00000508693.1_Missense_Mutation_p.S1066L|LPHN3_ENST00000508946.1_Missense_Mutation_p.S998L|LPHN3_ENST00000512091.2_Missense_Mutation_p.S998L|LPHN3_ENST00000509896.1_Missense_Mutation_p.S1066L|LPHN3_ENST00000506720.1_Missense_Mutation_p.S1066L|LPHN3_ENST00000514157.1_Missense_Mutation_p.S998L|LPHN3_ENST00000545650.1_Missense_Mutation_p.S998L|LPHN3_ENST00000506746.1_Missense_Mutation_p.S1066L|LPHN3_ENST00000507625.1_Missense_Mutation_p.S1066L|LPHN3_ENST00000504896.1_Missense_Mutation_p.S998L|LPHN3_ENST00000507164.1_Missense_Mutation_p.S1066L|LPHN3_ENST00000511324.1_Missense_Mutation_p.S1066L|LPHN3_ENST00000506700.1_Missense_Mutation_p.S998L|LPHN3_ENST00000514996.1_Missense_Mutation_p.S998L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	985					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GTGGCTGTGTCAGCTGCAGTA	0.383																																						uc010ihh.2		NA																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(2992-2994)TCA>TTA		latrophilin 3 precursor							188.0	186.0	186.0					4																	62849282		1898	4145	6043	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62849282C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2993C>T	4.37:g.62849282C>T	ENSP00000422533:p.Ser998Leu					LPHN3_uc003hcq.3_Missense_Mutation_p.S998L|LPHN3_uc003hct.2_Missense_Mutation_p.S391L	p.S998L	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			16	3166	+			985			Helical; Name=4; (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2993C>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	33	5.265257	0.95399	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39	5.72	5.72	0.89469	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.64382	0.2593	M	0.79475	2.455	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.996	D;D;D	0.80764	0.994;0.994;0.99	T	0.66779	-0.5837	10	0.87932	D	0	.	19.8917	0.96932	0.0:1.0:0.0:0.0	.	998;985;998	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	L	998;998;1066;1066;998;998;985;998;1066;1066;1066;998;998;998;1066;1066;998	ENSP00000423388:S998L;ENSP00000422533:S998L;ENSP00000423787:S1066L;ENSP00000425033:S1066L;ENSP00000424120:S998L;ENSP00000439831:S998L;ENSP00000421476:S1066L;ENSP00000424030:S1066L;ENSP00000421372:S1066L;ENSP00000425201:S998L;ENSP00000423434:S998L;ENSP00000421627:S998L;ENSP00000420931:S1066L;ENSP00000425884:S1066L;ENSP00000424258:S998L	ENSP00000280009:S998L	S	+	2	0	LPHN3	62531877	1.000000	0.71417	0.960000	0.40013	0.993000	0.82548	7.818000	0.86416	2.705000	0.92388	0.591000	0.81541	TCA		0.383	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			36	90	0	0	0	0	36	90				
UGT2B4	7363	broad.mit.edu	37	4	70360953	70360953	+	Silent	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr4:70360953C>T	ENST00000305107.6	-	1	673	c.627G>A	c.(625-627)gaG>gaA	p.E209E	UGT2B4_ENST00000381096.3_Silent_p.E73E|UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_Silent_p.E209E	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	209					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	TTTTTACCCTCTCTATGAAAG	0.378																																						uc003hek.3		NA																	0				skin(2)	2						c.(625-627)GAG>GAA		UDP glucuronosyltransferase 2B4 precursor							68.0	67.0	67.0					4																	70360953		2189	4300	6489	SO:0001819	synonymous_variant	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70360953C>T	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.627G>A	4.37:g.70360953C>T						UGT2B4_uc011cap.1_Silent_p.E73E|UGT2B4_uc003hel.3_Silent_p.E209E	p.E209E	NM_021139	NP_066962	P06133	UD2B4_HUMAN			1	674	-			209					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Silent	SNP	ENST00000305107.6	37	c.627G>A	CCDS43234.1																																																																																				0.378	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		11	29	0	0	0	0	11	29				
ENAM	10117	broad.mit.edu	37	4	71509483	71509483	+	Silent	SNP	G	G	A	rs376148809		TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr4:71509483G>A	ENST00000396073.3	+	9	2621	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	780					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAAGAAGGCCGTATTTTAACA	0.473																																						uc011caw.1		NA																	0				ovary(3)	3						c.(2338-2340)CCG>CCA		enamelin precursor		G		1,4405	2.1+/-5.4	0,1,2202	72.0	75.0	74.0		2340	-1.2	0.1	4		74	0,8600		0,0,4300	no	coding-synonymous	ENAM	NM_031889.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		780/1143	71509483	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71509483G>A	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2340G>A	4.37:g.71509483G>A							p.P780P	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	2621	+			780					Q17RI5|Q9H3D1	Silent	SNP	ENST00000396073.3	37	c.2340G>A	CCDS3544.2																																																																																				0.473	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		20	35	0	0	0	0	20	35				
FBXW7	55294	broad.mit.edu	37	4	153247255	153247255	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr4:153247255C>T	ENST00000281708.4	-	10	2776	c.1547G>A	c.(1546-1548)aGt>aAt	p.S516N	FBXW7_ENST00000296555.5_Missense_Mutation_p.S398N|FBXW7_ENST00000263981.5_Missense_Mutation_p.S436N|FBXW7_ENST00000603548.1_Missense_Mutation_p.S516N|FBXW7_ENST00000393956.3_Missense_Mutation_p.S340N|FBXW7_ENST00000603841.1_Missense_Mutation_p.S516N	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	516					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATATGCTCCACTAACAACCCT	0.443			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2		NA		Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		1	Unknown(1)		haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1546-1548)AGT>AAT		F-box and WD repeat domain containing 7 isoform							188.0	181.0	183.0					4																	153247255		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153247255C>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1547G>A	4.37:g.153247255C>T	ENSP00000281708:p.Ser516Asn					FBXW7_uc011cii.1_Missense_Mutation_p.S516N|FBXW7_uc003imt.2_Missense_Mutation_p.S516N|FBXW7_uc011cih.1_Missense_Mutation_p.S340N|FBXW7_uc003imq.2_Missense_Mutation_p.S436N|FBXW7_uc003imr.2_Missense_Mutation_p.S398N	p.S516N	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			10	1696	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	516			WD 4.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1547G>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182786	0.94885	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.076859	0.85682	D	0.000000	D	0.91506	0.7318	H	0.98901	4.365	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.998	D	0.94215	0.7462	10	0.87932	D	0	-18.8233	20.2406	0.98372	0.0:1.0:0.0:0.0	.	340;516;398;436	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	N	516;398;436;340	ENSP00000281708:S516N;ENSP00000296555:S398N;ENSP00000263981:S436N;ENSP00000377528:S340N	ENSP00000263981:S436N	S	-	2	0	FBXW7	153466705	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.744000	0.85034	2.857000	0.98124	0.650000	0.86243	AGT		0.443	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			22	122	0	0	0	0	22	122				
HSPA4	3308	broad.mit.edu	37	5	132427046	132427046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr5:132427046C>T	ENST00000304858.2	+	12	1829	c.1540C>T	c.(1540-1542)Cag>Tag	p.Q514*		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	514					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGAAACAGATCAGAATGCAAA	0.438																																					Colon(114;1299 1588 6063 12302 48757)	uc003kyj.2		NA																	0				lung(1)|breast(1)	2						c.(1540-1542)CAG>TAG		heat shock 70kDa protein 4							100.0	100.0	100.0					5																	132427046		2203	4300	6503	SO:0001587	stop_gained	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132427046C>T	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.1540C>T	5.37:g.132427046C>T	ENSP00000302961:p.Gln514*						p.Q514*	NM_002154	NP_002145	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		12	1821	+			514					O95756|Q2TAL4|Q9BUK9	Nonsense_Mutation	SNP	ENST00000304858.2	37	c.1540C>T	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	C	36	5.867450	0.97043	.	.	ENSG00000170606	ENST00000304858	.	.	.	5.93	5.93	0.95920	.	0.051185	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-11.5134	20.3539	0.98825	0.0:1.0:0.0:0.0	.	.	.	.	X	514	.	ENSP00000302961:Q514X	Q	+	1	0	HSPA4	132454945	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	4.351000	0.59398	2.826000	0.97356	0.655000	0.94253	CAG		0.438	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		11	13	0	0	0	0	11	13				
HIST1H1D	3007	broad.mit.edu	37	6	26234945	26234945	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr6:26234945C>T	ENST00000244534.5	-	1	271	c.217G>A	c.(217-219)Gat>Aat	p.D73N		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	73	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TTTTCTACATCGTAGCCAGCA	0.542																																						uc003nhd.2		NA																	0				skin(1)	1						c.(217-219)GAT>AAT		histone cluster 1, H1d							67.0	77.0	74.0					6																	26234945		2203	4300	6503	SO:0001583	missense	3007				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26234945C>T	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"""Histones / Replication-dependent"""	4717	protein-coding gene	gene with protein product		142210	"""H1 histone family, member 3"", ""histone 1, H1d"""	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.217G>A	6.37:g.26234945C>T	ENSP00000244534:p.Asp73Asn						p.D73N	NM_005320	NP_005311	P16402	H13_HUMAN			1	272	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	73			H15.		B2R751|Q2M2I2	Missense_Mutation	SNP	ENST00000244534.5	37	c.217G>A	CCDS4597.1	.	.	.	.	.	.	.	.	.	.	.	21.3	4.127679	0.77549	.	.	ENSG00000124575	ENST00000244534	T	0.09817	2.94	5.23	5.23	0.72850	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.20495	0.0493	L	0.52823	1.66	0.80722	D	1	D	0.61697	0.99	D	0.64506	0.926	T	0.00392	-1.1768	10	0.66056	D	0.02	-28.8207	18.1633	0.89717	0.0:1.0:0.0:0.0	.	73	P16402	H13_HUMAN	N	73	ENSP00000244534:D73N	ENSP00000244534:D73N	D	-	1	0	HIST1H1D	26342924	1.000000	0.71417	0.999000	0.59377	0.086000	0.17979	4.058000	0.57463	2.623000	0.88846	0.655000	0.94253	GAT		0.542	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	NM_005320		34	80	0	0	0	0	34	80				
SH3BGRL2	83699	broad.mit.edu	37	6	80383466	80383466	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr6:80383466C>G	ENST00000369838.4	+	2	360	c.181C>G	c.(181-183)Cag>Gag	p.Q61E		NM_031469.2	NP_113657.1	Q9UJC5	SH3L2_HUMAN	SH3 domain binding glutamate-rich protein like 2	61						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				large_intestine(2)|lung(3)	5		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		GAAACCCACTCAGGGCAACCC	0.458																																						uc003piz.1		NA																	0					0						c.(181-183)CAG>GAG		SH3 domain binding glutamic acid-rich protein							124.0	132.0	129.0					6																	80383466		2203	4300	6503	SO:0001583	missense	83699					nucleus	SH3 domain binding	g.chr6:80383466C>G	AJ297972	CCDS4991.1	6q14.1	2014-02-19	2014-02-19		ENSG00000198478	ENSG00000198478			15567	protein-coding gene	gene with protein product		615678	"""SH3 domain binding glutamic acid-rich protein like 2"""			12095696	Standard	NM_031469		Approved		uc003piz.1	Q9UJC5	OTTHUMG00000015081	ENST00000369838.4:c.181C>G	6.37:g.80383466C>G	ENSP00000358853:p.Gln61Glu						p.Q61E	NM_031469	NP_113657	Q9UJC5	SH3L2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0278)	2	360	+		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)	61			SH3-binding (Potential).		A8MQU2|Q2VPC2|Q5VV96|Q6NSK8|Q6P9E8|Q7Z734|Q8IWD3|Q9BPY5	Missense_Mutation	SNP	ENST00000369838.4	37	c.181C>G	CCDS4991.1	.	.	.	.	.	.	.	.	.	.	C	1.180	-0.638445	0.03557	.	.	ENSG00000198478	ENST00000369838	T	0.75821	-0.97	5.75	5.75	0.90469	Thioredoxin-like fold (2);	0.100273	0.64402	D	0.000002	T	0.59252	0.2180	L	0.60455	1.87	0.39672	D	0.970777	P	0.38617	0.64	B	0.40602	0.334	T	0.65335	-0.6193	10	0.02654	T	1	-25.0623	18.9446	0.92616	0.0:1.0:0.0:0.0	.	61	Q9UJC5	SH3L2_HUMAN	E	61	ENSP00000358853:Q61E	ENSP00000358853:Q61E	Q	+	1	0	SH3BGRL2	80440185	1.000000	0.71417	0.983000	0.44433	0.124000	0.20399	4.648000	0.61425	2.708000	0.92522	0.650000	0.86243	CAG		0.458	SH3BGRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041309.1			27	60	0	0	0	0	27	60				
MAP3K7	6885	broad.mit.edu	37	6	91246083	91246083	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr6:91246083C>G	ENST00000369329.3	-	13	1490	c.1329G>C	c.(1327-1329)ttG>ttC	p.L443F	MAP3K7_ENST00000369332.3_Missense_Mutation_p.L416F|MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369327.3_Missense_Mutation_p.L416F|MAP3K7_ENST00000369325.3_Missense_Mutation_p.L443F|MAP3K7_ENST00000369320.1_Missense_Mutation_p.L97F	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	443					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|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)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CAGTTACAGTCAAGTCTTGGA	0.343																																						uc003pnz.1		NA																	0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6						c.(1327-1329)TTG>TTC		mitogen-activated protein kinase kinase kinase 7							118.0	111.0	114.0					6																	91246083		2203	4300	6503	SO:0001583	missense	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding	g.chr6:91246083C>G	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1329G>C	6.37:g.91246083C>G	ENSP00000358335:p.Leu443Phe					MAP3K7_uc003pny.1_5'UTR|MAP3K7_uc003poa.1_Missense_Mutation_p.L443F|MAP3K7_uc003pob.1_Missense_Mutation_p.L416F|MAP3K7_uc003poc.1_Missense_Mutation_p.L416F	p.L443F	NM_145331	NP_663304	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	13	1491	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	443					B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	c.1329G>C	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738630	0.49045	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000369320;ENST00000450832	T;T;T;T	0.78924	-1.12;-1.08;-1.13;-1.22	5.73	3.86	0.44501	.	0.126978	0.51477	D	0.000095	T	0.62901	0.2466	N	0.22421	0.69	0.80722	D	1	D;D;D;D	0.89917	0.998;0.997;1.0;0.994	D;P;D;P	0.76575	0.962;0.855;0.988;0.795	T	0.63862	-0.6541	10	0.15066	T	0.55	.	3.9608	0.09410	0.1858:0.5001:0.234:0.08	.	416;416;443;443	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	F	416;443;443;416;97;343	ENSP00000358338:L416F;ENSP00000358335:L443F;ENSP00000358331:L443F;ENSP00000358333:L416F	ENSP00000358326:L97F	L	-	3	2	MAP3K7	91302804	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.057000	0.30492	1.428000	0.47296	0.650000	0.86243	TTG		0.343	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		13	28	0	0	0	0	13	28				
REV3L	5980	broad.mit.edu	37	6	111680071	111680071	+	Silent	SNP	G	G	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr6:111680071G>A	ENST00000358835.3	-	18	7480	c.7026C>T	c.(7024-7026)ctC>ctT	p.L2342L	REV3L_ENST00000368802.3_Silent_p.L2342L|REV3L_ENST00000435970.1_Silent_p.L2264L|REV3L_ENST00000368805.1_Silent_p.L2342L|REV3L-IT1_ENST00000411895.1_RNA			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2342					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTACACCTGTGAGTTCTGTTT	0.398								DNA polymerases (catalytic subunits)																														uc003puy.3		NA																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(7024-7026)CTC>CTT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							137.0	126.0	129.0					6																	111680071		2203	4300	6503	SO:0001819	synonymous_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111680071G>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.7026C>T	6.37:g.111680071G>A						REV3L_uc003pux.3_Silent_p.L2264L|REV3L_uc003puz.3_Silent_p.L2264L|REV3L_uc003pva.1_RNA	p.L2342L	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	17	7349	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	2342					O43214|Q5TC33	Silent	SNP	ENST00000358835.3	37	c.7026C>T	CCDS5091.2																																																																																				0.398	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		26	58	0	0	0	0	26	58				
ROS1	6098	broad.mit.edu	37	6	117708099	117708099	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr6:117708099C>T	ENST00000368508.3	-	14	2276	c.2078G>A	c.(2077-2079)aGc>aAc	p.S693N	ROS1_ENST00000368507.3_Missense_Mutation_p.S688N|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	693					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGGGCCAAAGCTATTTAATGG	0.383			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1		NA		Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		0				lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(2077-2079)AGC>AAC		proto-oncogene c-ros-1 protein precursor							109.0	104.0	105.0					6																	117708099		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117708099C>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2078G>A	6.37:g.117708099C>T	ENSP00000357494:p.Ser693Asn					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.S693N	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	14	2277	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	693			Extracellular (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.2078G>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475482	0.63737	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91351	-2.83;-2.83	5.19	3.41	0.39046	.	0.346810	0.28135	N	0.016464	T	0.68659	0.3025	N	0.12182	0.205	0.80722	D	1	B	0.18863	0.031	B	0.19148	0.024	T	0.66110	-0.6005	10	0.66056	D	0.02	.	6.5306	0.22324	0.0:0.6938:0.1477:0.1584	.	693	P08922	ROS1_HUMAN	N	693;688	ENSP00000357494:S693N;ENSP00000357493:S688N	ENSP00000357493:S688N	S	-	2	0	ROS1	117814792	0.403000	0.25319	0.999000	0.59377	0.997000	0.91878	0.081000	0.14823	0.586000	0.29626	0.561000	0.74099	AGC		0.383	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			29	50	0	0	0	0	29	50				
SNX9	51429	broad.mit.edu	37	6	158330947	158330947	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr6:158330947A>G	ENST00000392185.3	+	9	1010	c.839A>G	c.(838-840)aAt>aGt	p.N280S		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	280	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		TAGAACACTAATCGATCTGTA	0.393																																						uc003qqv.1		NA																	0					0						c.(838-840)AAT>AGT		sorting nexin 9							198.0	207.0	204.0					6																	158330947		2203	4300	6503	SO:0001583	missense	51429				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	g.chr6:158330947A>G	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"""Sorting nexins"""	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.839A>G	6.37:g.158330947A>G	ENSP00000376024:p.Asn280Ser						p.N280S	NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	9	1012	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	280			PX.		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	ENST00000392185.3	37	c.839A>G	CCDS5253.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.099196	0.56183	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	T	0.37411	1.2	5.11	3.94	0.45596	Phox homologous domain (5);	0.183871	0.56097	D	0.000027	T	0.31544	0.0800	L	0.37561	1.115	0.54753	D	0.999987	D	0.63880	0.993	D	0.70016	0.967	T	0.14868	-1.0457	10	0.45353	T	0.12	-27.2955	11.0817	0.48064	0.9264:0.0:0.0736:0.0	.	280	Q9Y5X1	SNX9_HUMAN	S	280;280;80	ENSP00000376024:N280S	ENSP00000252631:N80S	N	+	2	0	SNX9	158250935	1.000000	0.71417	0.805000	0.32314	0.710000	0.40934	8.798000	0.91888	-1.177000	0.02744	-0.250000	0.11733	AAT		0.393	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1			32	56	0	0	0	0	32	56				
WTAP	9589	broad.mit.edu	37	6	160176488	160176488	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr6:160176488G>A	ENST00000358372.4	+	8	2793	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	346					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		CACGGGCAGTGAAAACTCTCT	0.507																																						uc003qsl.2		NA																	0					0						c.(1036-1038)GAA>AAA		Wilms' tumour 1-associating protein isoform 1							100.0	98.0	99.0					6																	160176488		2203	4300	6503	SO:0001583	missense	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160176488G>A	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.1036G>A	6.37:g.160176488G>A	ENSP00000351141:p.Glu346Lys					WTAP_uc003qso.2_Missense_Mutation_p.E227K	p.E346K	NM_004906	NP_004897	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	8	1258	+		Breast(66;0.000776)|Ovarian(120;0.0303)	346					Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	ENST00000358372.4	37	c.1036G>A	CCDS5266.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038986	0.93630	.	.	ENSG00000146457	ENST00000358372	T	0.54675	0.56	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.55955	0.1953	L	0.29908	0.895	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.80764	0.994;0.987	T	0.49123	-0.8972	10	0.33141	T	0.24	-5.0646	20.3931	0.98965	0.0:0.0:1.0:0.0	.	346;346	A8K489;Q15007	.;FL2D_HUMAN	K	346	ENSP00000351141:E346K	ENSP00000351141:E346K	E	+	1	0	WTAP	160096478	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.824000	0.97209	0.655000	0.94253	GAA		0.507	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857		24	41	0	0	0	0	24	41				
MSRA	4482	broad.mit.edu	37	8	10285683	10285683	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr8:10285683C>T	ENST00000317173.4	+	6	818	c.569C>T	c.(568-570)cCc>cTc	p.P190L	MSRA_ENST00000382490.5_Missense_Mutation_p.P147L|MSRA_ENST00000528246.1_Missense_Mutation_p.P124L|MSRA_ENST00000441698.2_Missense_Mutation_p.P150L	NM_012331.3	NP_036463.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	190					cellular protein modification process (GO:0006464)|methionine metabolic process (GO:0006555)|protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptide-methionine (S)-S-oxide reductase activity (GO:0008113)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	GGCTTCGGCCCCATCACTACC	0.597																																					NSCLC(88;1378 1469 30580 49103 52286)	uc003wsx.2		NA																	0					0						c.(568-570)CCC>CTC		methionine sulfoxide reductase A isoform a	L-Methionine(DB00134)						63.0	57.0	59.0					8																	10285683		2203	4300	6503	SO:0001583	missense	4482				methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity	g.chr8:10285683C>T	BC054033	CCDS5975.1, CCDS47798.1, CCDS47799.1, CCDS56522.1	8p23.1	2009-07-10			ENSG00000175806	ENSG00000175806	1.8.4.11		7377	protein-coding gene	gene with protein product		601250				10452521	Standard	NM_012331		Approved		uc003wsx.3	Q9UJ68	OTTHUMG00000090517	ENST00000317173.4:c.569C>T	8.37:g.10285683C>T	ENSP00000313921:p.Pro190Leu					MSRA_uc011kwx.1_Missense_Mutation_p.P150L|MSRA_uc003wsz.2_Missense_Mutation_p.P147L|MSRA_uc003wsy.2_Missense_Mutation_p.P124L	p.P190L	NM_012331	NP_036463	Q9UJ68	MSRA_HUMAN			6	766	+		Myeloproliferative disorder(644;0.178)	190					E9PAS8|Q52TC4|Q549N4|Q66MI7	Missense_Mutation	SNP	ENST00000317173.4	37	c.569C>T	CCDS5975.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990908	0.35131	.	.	ENSG00000175806	ENST00000317173;ENST00000441698;ENST00000528246;ENST00000382490	.	.	.	4.78	1.45	0.22620	.	1.020500	0.07780	N	0.953258	T	0.45256	0.1333	M	0.71036	2.16	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.09377	0.002;0.001;0.004	T	0.35992	-0.9766	8	.	.	.	-18.0753	6.8912	0.24230	0.2818:0.6241:0.0:0.0941	.	150;147;190	Q9UJ68-4;Q9UJ68-3;Q9UJ68	.;.;MSRA_HUMAN	L	190;150;124;147	.	.	P	+	2	0	MSRA	10323093	0.000000	0.05858	0.001000	0.08648	0.259000	0.26198	-0.218000	0.09240	0.058000	0.16222	0.655000	0.94253	CCC		0.597	MSRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207005.1	NM_012331		14	26	0	0	0	0	14	26				
FAM160B2	64760	broad.mit.edu	37	8	21958395	21958395	+	Missense_Mutation	SNP	G	G	A	rs531230265		TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr8:21958395G>A	ENST00000289921.7	+	12	1574	c.1528G>A	c.(1528-1530)Gat>Aat	p.D510N		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	510										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CAGCTTCCTGGATTCCGGCTT	0.572																																						uc011kyx.1		NA																	0					0						c.(1528-1530)GAT>AAT		retinoic acid induced 16							98.0	105.0	102.0					8																	21958395		2065	4184	6249	SO:0001583	missense	64760							g.chr8:21958395G>A	AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"""retinoic acid induced 16"""	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.1528G>A	8.37:g.21958395G>A	ENSP00000289921:p.Asp510Asn					FAM160B2_uc011kyy.1_RNA	p.D510N	NM_022749	NP_073586	Q86V87	F16B2_HUMAN			12	1579	+			510					B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Missense_Mutation	SNP	ENST00000289921.7	37	c.1528G>A	CCDS6021.2	.	.	.	.	.	.	.	.	.	.	.	4.180	0.031931	0.08101	.	.	ENSG00000158863	ENST00000289921	T	0.15718	2.4	5.59	1.28	0.21552	.	0.441211	0.23914	N	0.043312	T	0.13586	0.0329	L	0.42245	1.32	0.09310	N	1	B	0.09022	0.002	B	0.15484	0.013	T	0.23833	-1.0177	10	0.29301	T	0.29	-7.1221	10.1765	0.42941	0.3326:0.0:0.6674:0.0	.	510	Q86V87	F16B2_HUMAN	N	510	ENSP00000289921:D510N	ENSP00000289921:D510N	D	+	1	0	FAM160B2	22014340	0.273000	0.24181	0.018000	0.16275	0.001000	0.01503	2.328000	0.43867	0.328000	0.23435	-0.140000	0.14226	GAT		0.572	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375334.2			34	78	0	0	0	0	34	78				
ADAM7	8756	broad.mit.edu	37	8	24326281	24326281	+	Splice_Site	SNP	G	G	A	rs371799807		TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr8:24326281G>A	ENST00000175238.6	+	7	664	c.581G>A	c.(580-582)gGc>gAc	p.G194D	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Splice_Site_p.G194D	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACTTTACAGGGCATCCATGAT	0.308																																						uc003xeb.2		NA																	0				skin(3)|ovary(1)|kidney(1)	5						c.(580-582)GGC>GAC		a disintegrin and metalloproteinase domain 7							206.0	185.0	192.0					8																	24326281		2203	4299	6502	SO:0001630	splice_region_variant	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24326281G>A	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.580-1G>A	8.37:g.24326281G>A							p.G194D	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	7	694	+		Prostate(55;0.0181)	194			Extracellular (Potential).		A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	c.581G>A	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	G	0.063	-1.219991	0.01542	.	.	ENSG00000069206	ENST00000175238;ENST00000380789	T;T	0.28454	1.62;1.61	5.14	-8.82	0.00810	.	2.324780	0.01346	N	0.011720	T	0.09774	0.0240	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18116	-1.0347	10	0.11182	T	0.66	.	3.3722	0.07225	0.5044:0.085:0.2263:0.1843	.	194	Q9H2U9	ADAM7_HUMAN	D	194	ENSP00000175238:G194D;ENSP00000370166:G194D	ENSP00000175238:G194D	G	+	2	0	ADAM7	24382171	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.574000	0.00911	-2.280000	0.00675	-4.185000	0.00009	GGC		0.308	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817	Missense_Mutation	3	41	0	0	0	0	3	41				
IKBKB	3551	broad.mit.edu	37	8	42176820	42176820	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr8:42176820C>G	ENST00000520810.1	+	14	1583	c.1397C>G	c.(1396-1398)tCc>tGc	p.S466C	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.S464C|IKBKB_ENST00000522785.1_3'UTR|IKBKB_ENST00000379708.3_Missense_Mutation_p.S243C|IKBKB_ENST00000416505.2_Missense_Mutation_p.S407C	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	466	Leucine-zipper.				B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	AGCTGCCTCTCCAAAATGAAG	0.473											OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xow.1		NA																	0				breast(3)|ovary(2)|lung(1)|skin(1)	7						c.(1396-1398)TCC>TGC		inhibitor of nuclear factor kappa B kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						91.0	88.0	89.0					8																	42176820		2203	4300	6503	SO:0001583	missense	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42176820C>G	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1397C>G	8.37:g.42176820C>G	ENSP00000430684:p.Ser466Cys		OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	906	IKBKB_uc010lxh.1_Missense_Mutation_p.S361C|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.S243C|IKBKB_uc003xox.1_Missense_Mutation_p.S187C|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.S464C|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.S407C	p.S466C	NM_001556	NP_001547	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		14	1574	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	466			Leucine-zipper.		B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	c.1397C>G	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216856	0.95104	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.76060	-0.91;-0.99;-0.8;2.82	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.81842	0.4908	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.998;0.998	D;D;D;D;D	0.85130	0.997;0.96;0.996;0.912;0.94	T	0.82194	-0.0578	10	0.62326	D	0.03	-25.3868	19.9698	0.97280	0.0:1.0:0.0:0.0	.	407;464;243;417;466	B4E0U4;O14920-2;B3KRB7;Q59GL9;O14920	.;.;.;.;IKKB_HUMAN	C	466;407;464;243	ENSP00000430684:S466C;ENSP00000404920:S407C;ENSP00000430868:S464C;ENSP00000369030:S243C	ENSP00000369030:S243C	S	+	2	0	IKBKB	42295977	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.094000	0.71431	2.817000	0.96982	0.563000	0.77884	TCC		0.473	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			16	93	0	0	0	0	16	93				
PAG1	55824	broad.mit.edu	37	8	81897257	81897257	+	Silent	SNP	C	C	G	rs202231054		TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr8:81897257C>G	ENST00000220597.4	-	7	1340	c.630G>C	c.(628-630)tcG>tcC	p.S210S		NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	210					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GGAGCTCTTTCGAGGCAGAAG	0.488																																						uc003ybz.2		NA																	0					0						c.(628-630)TCG>TCC		phosphoprotein associated with glycosphingolipid							84.0	85.0	85.0					8																	81897257		2203	4300	6503	SO:0001819	synonymous_variant	55824				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity	g.chr8:81897257C>G	AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"""Csk-binding protein"", ""transmembrane adaptor protein PAG"""	605767	"""phosphoprotein associated with glycosphingolipid microdomains 1"""			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.630G>C	8.37:g.81897257C>G							p.S210S	NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)		7	1341	-	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		210			Cytoplasmic (Potential).		A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Silent	SNP	ENST00000220597.4	37	c.630G>C	CCDS6227.1																																																																																				0.488	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3	NM_018440		23	49	0	0	0	0	23	49				
UBR5	51366	broad.mit.edu	37	8	103301699	103301699	+	Silent	SNP	A	A	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr8:103301699A>T	ENST00000520539.1	-	35	5301	c.4695T>A	c.(4693-4695)gtT>gtA	p.V1565V	UBR5_ENST00000519528.1_Intron|UBR5_ENST00000521922.1_Silent_p.V1559V|UBR5_ENST00000220959.4_Silent_p.V1565V	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1565					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CATCTGCTGAAACAATATCAT	0.403																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NA																	0				lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(4693-4695)GTT>GTA		ubiquitin protein ligase E3 component n-recognin							140.0	131.0	134.0					8																	103301699		2203	4300	6503	SO:0001819	synonymous_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103301699A>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.4695T>A	8.37:g.103301699A>T						UBR5_uc003yks.1_Silent_p.V1565V	p.V1565V	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		35	4728	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1565					B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	c.4695T>A	CCDS34933.1																																																																																				0.403	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		16	61	0	0	0	0	16	61				
EIF3E	3646	broad.mit.edu	37	8	109254111	109254111	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr8:109254111T>G	ENST00000220849.5	-	2	184	c.122A>C	c.(121-123)aAa>aCa	p.K41T	EIF3E_ENST00000519030.1_Intron	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E										EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			AAGGTCCAATTTACCTTGTAA	0.284																																					GBM(15;360 410 8460 34179 52246)	uc003ymu.2		NA																	0				ovary(2)|kidney(1)	3						c.(121-123)AAA>ACA		eukaryotic translation initiation factor 3,							88.0	86.0	87.0					8																	109254111		2203	4296	6499	SO:0001583	missense	3646				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding	g.chr8:109254111T>G	U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"""eukaryotic translation initiation factor 3, subunit 6 48kDa"""	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.122A>C	8.37:g.109254111T>G	ENSP00000220849:p.Lys41Thr					EIF3E_uc003ymt.2_5'UTR|EIF3E_uc003ymv.2_Intron|EIF3E_uc010mci.1_Missense_Mutation_p.K41T|EIF3E_uc010mcj.1_Missense_Mutation_p.K41T	p.K41T	NM_001568	NP_001559	P60228	EIF3E_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)		2	150	-			41			Sufficient for interaction with TRIM27.|Sufficient for interaction with EPAS1.			Missense_Mutation	SNP	ENST00000220849.5	37	c.122A>C	CCDS6308.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.9|24.9	4.584162|4.584162	0.86748|0.86748	.|.	.|.	ENSG00000104408|ENSG00000104408	ENST00000220849|ENST00000521440;ENST00000521297	T|.	0.52057|.	0.68|.	4.93|4.93	4.93|4.93	0.64822|0.64822	Eukaryotic translation initiation factor 3 (eIF3), subunit 6, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83972|0.83972	0.5370|0.5370	M|M	0.91717|0.91717	3.235|3.235	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.998;0.997;1.0|.	D;D;D|.	0.77557|.	0.957;0.934;0.99|.	D|D	0.87871|0.87871	0.2671|0.2671	10|5	0.72032|.	D|.	0.01|.	-18.473|-18.473	14.9026|14.9026	0.70692|0.70692	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	41;41;41|.	Q6IAX5;B2R806;P60228|.	.;.;EIF3E_HUMAN|.	T|H	41|40;30	ENSP00000220849:K41T|.	ENSP00000220849:K41T|.	K|N	-|-	2|1	0|0	EIF3E|EIF3E	109323287|109323287	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.861000|7.861000	0.87004|0.87004	1.973000|1.973000	0.57446|0.57446	0.477000|0.477000	0.44152|0.44152	AAA|AAT		0.284	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2	NM_001568		10	41	0	0	0	0	10	41				
OPLAH	26873	broad.mit.edu	37	8	145107094	145107094	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr8:145107094C>A	ENST00000426825.1	-	24	3520	c.3439G>T	c.(3439-3441)Gac>Tac	p.D1147Y	OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000528912.1_RNA|CTD-3065J16.6_ENST00000561181.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1147					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATCTCAGGGTCGGTGATGCGT	0.726																																						uc003zar.3		NA																	0					0						c.(3439-3441)GAC>TAC		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						9.0	12.0	11.0					8																	145107094		2003	4141	6144	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145107094C>A	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.3439G>T	8.37:g.145107094C>A	ENSP00000475943:p.Asp1147Tyr						p.D1147Y	NM_017570	NP_060040	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		24	3521	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1147					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.3439G>T		.	.	.	.	.	.	.	.	.	.	C	15.01	2.707231	0.48412	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.79233	0.4411	.	.	.	0.54753	D	0.999987	D	0.89917	1.0	D	0.97110	1.0	D	0.84186	0.0442	7	0.87932	D	0	.	15.348	0.74355	0.0:1.0:0.0:0.0	.	1147	O14841	OPLA_HUMAN	Y	1147	.	ENSP00000412071:D1147Y	D	-	1	0	OPLAH	145179082	1.000000	0.71417	0.978000	0.43139	0.845000	0.48019	3.318000	0.51975	2.199000	0.70637	0.643000	0.83706	GAC		0.726	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		6	6	1	0	3.6e-05	3.95e-05	6	6				
ABCA2	20	broad.mit.edu	37	9	139907546	139907546	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr9:139907546G>C	ENST00000371605.3	-	29	4919	c.4772C>G	c.(4771-4773)cCc>cGc	p.P1591R	ABCA2_ENST00000265662.5_Missense_Mutation_p.P1592R|ABCA2_ENST00000341511.6_Missense_Mutation_p.P1592R			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1591					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGAGGGTGGGGGTGGCACGAA	0.677																																						uc011mem.1		NA																	0					0						c.(4771-4773)CCC>CGC		ATP-binding cassette, sub-family A, member 2							7.0	12.0	10.0					9																	139907546		1968	4123	6091	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139907546G>C	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.4772C>G	9.37:g.139907546G>C	ENSP00000360666:p.Pro1591Arg					ABCA2_uc011mel.1_Missense_Mutation_p.P1592R|ABCA2_uc004ckl.1_Missense_Mutation_p.P1522R|ABCA2_uc004ckm.1_Missense_Mutation_p.P1622R|ABCA2_uc004ckn.1_RNA	p.P1591R	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	29	4920	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1591					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.4772C>G		.	.	.	.	.	.	.	.	.	.	G	15.43	2.830300	0.50845	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511;ENST00000477420	D;D;D	0.87571	-2.27;-2.27;-2.27	4.68	4.68	0.58851	.	0.304934	0.19916	U	0.103192	D	0.91236	0.7238	L	0.57536	1.79	0.58432	D	0.999999	D;D	0.63880	0.993;0.993	P;P	0.61328	0.887;0.887	D	0.91099	0.4913	10	0.45353	T	0.12	.	17.5587	0.87900	0.0:0.0:1.0:0.0	.	1591;1622	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	R	1592;1591;1622;1592;18	ENSP00000265662:P1592R;ENSP00000360666:P1591R;ENSP00000344155:P1592R	ENSP00000265662:P1592R	P	-	2	0	ABCA2	139027367	1.000000	0.71417	0.647000	0.29507	0.248000	0.25809	9.040000	0.93783	2.142000	0.66516	0.491000	0.48974	CCC		0.677	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		13	1	0	0	0	0	13	1				
AMER1	139285	broad.mit.edu	37	X	63412439	63412439	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chrX:63412439G>A	ENST00000330258.3	-	2	1000	c.728C>T	c.(727-729)cCa>cTa	p.P243L	AMER1_ENST00000374869.3_Missense_Mutation_p.P243L|AMER1_ENST00000403336.1_Missense_Mutation_p.P243L	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	243					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									AGAAGGTTCTGGTGTTGGAGA	0.542																																						uc004dvo.2		NA																	67	Whole gene deletion(67)	p.0?(40)	kidney(65)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(727-729)CCA>CTA		family with sequence similarity 123B							99.0	97.0	98.0					X																	63412439		2203	4299	6502	SO:0001583	missense	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63412439G>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.728C>T	X.37:g.63412439G>A	ENSP00000329117:p.Pro243Leu						p.P243L	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	1001	-			243					A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.728C>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	8.030	0.761482	0.15914	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.18502	2.21;2.21;2.21	4.59	1.75	0.24633	.	0.889154	0.09786	N	0.756015	T	0.15003	0.0362	L	0.47716	1.5	0.09310	N	0.999995	B	0.13594	0.008	B	0.14023	0.01	T	0.30995	-0.9959	10	0.34782	T	0.22	1.6254	6.7226	0.23338	0.0:0.3184:0.3529:0.3287	.	243	Q5JTC6	F123B_HUMAN	L	243	ENSP00000364003:P243L;ENSP00000329117:P243L;ENSP00000384722:P243L	ENSP00000329117:P243L	P	-	2	0	FAM123B	63329164	0.019000	0.18553	0.003000	0.11579	0.791000	0.44710	0.619000	0.24388	0.225000	0.20959	0.600000	0.82982	CCA		0.542	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		47	30	0	0	0	0	47	30				
MED12	9968	broad.mit.edu	37	X	70338616	70338616	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chrX:70338616C>G	ENST00000374080.3	+	1	44	c.12C>G	c.(10-12)ttC>ttG	p.F4L	MED12_ENST00000333646.6_Missense_Mutation_p.F4L|MED12_ENST00000374102.1_Missense_Mutation_p.F4L			Q93074	MED12_HUMAN	mediator complex subunit 12	4					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGGCGGCCTTCGGGATCTTGA	0.672			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.2		NA		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(10-12)TTC>TTG		mediator complex subunit 12							11.0	12.0	12.0					X																	70338616		1845	4058	5903	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70338616C>G	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.12C>G	X.37:g.70338616C>G	ENSP00000363193:p.Phe4Leu					MED12_uc011mpq.1_Missense_Mutation_p.F4L|MED12_uc004dyz.2_Missense_Mutation_p.F4L|MED12_uc004dza.2_5'Flank	p.F4L	NM_005120	NP_005111	Q93074	MED12_HUMAN			1	211	+	Renal(35;0.156)		4					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.12C>G	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	28.7	4.941065	0.92526	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080	T;T;T	0.60797	0.16;0.17;0.16	4.13	4.13	0.48395	.	0.000000	0.64402	D	0.000001	T	0.60117	0.2244	N	0.19112	0.55	0.58432	D	0.999999	P;D;P	0.69078	0.657;0.997;0.526	P;D;B	0.79108	0.548;0.992;0.42	T	0.55547	-0.8124	10	0.15066	T	0.55	-14.7653	16.5122	0.84288	0.0:1.0:0.0:0.0	.	4;4;4	F5H3Y1;Q93074-3;Q93074	.;.;MED12_HUMAN	L	4	ENSP00000333125:F4L;ENSP00000363215:F4L;ENSP00000363193:F4L	ENSP00000333125:F4L	F	+	3	2	MED12	70255341	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.973000	0.63763	2.007000	0.58848	0.431000	0.28591	TTC		0.672	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		8	4	0	0	0	0	8	4				
MID2	11043	broad.mit.edu	37	X	107084609	107084609	+	Silent	SNP	A	A	G			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chrX:107084609A>G	ENST00000262843.6	+	2	1262	c.714A>G	c.(712-714)aaA>aaG	p.K238K	MID2_ENST00000443968.2_Silent_p.K238K	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	238					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GATTTGAGAAACTCAAGGTAA	0.433																																						uc004enl.2		NA																	0				ovary(1)	1						c.(712-714)AAA>AAG		midline 2 isoform 1							58.0	49.0	52.0					X																	107084609		2203	4298	6501	SO:0001819	synonymous_variant	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107084609A>G		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.714A>G	X.37:g.107084609A>G						MID2_uc004enk.2_Silent_p.K238K	p.K238K	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN			2	1287	+			238			Potential.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Silent	SNP	ENST00000262843.6	37	c.714A>G	CCDS14532.2																																																																																				0.433	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		13	14	0	0	0	0	13	14				
FRMD7	90167	broad.mit.edu	37	X	131212868	131212868	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chrX:131212868G>C	ENST00000298542.4	-	12	1352	c.1177C>G	c.(1177-1179)Ctg>Gtg	p.L393V	FRMD7_ENST00000464296.1_Missense_Mutation_p.L378V|FRMD7_ENST00000370879.1_Missense_Mutation_p.L273V	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	393					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GAatgctccagctcagttgca	0.478																																						uc004ewn.2		NA																	0				skin(1)	1						c.(1177-1179)CTG>GTG		FERM domain containing 7							191.0	169.0	176.0					X																	131212868		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131212868G>C	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1177C>G	X.37:g.131212868G>C	ENSP00000298542:p.Leu393Val					FRMD7_uc011muy.1_Missense_Mutation_p.L378V	p.L393V	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN			12	1355	-	Acute lymphoblastic leukemia(192;0.000127)		393					C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.1177C>G	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	G	8.421	0.846413	0.16963	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.90324	-2.65;-2.27;-2.36	5.83	3.75	0.43078	.	0.230134	0.29424	N	0.012184	D	0.88347	0.6412	L	0.61218	1.895	0.23101	N	0.998293	P;P	0.48089	0.905;0.839	B;B	0.44044	0.439;0.293	T	0.79857	-0.1626	10	0.30078	T	0.28	.	10.2366	0.43286	0.2482:0.0:0.7518:0.0	.	378;393	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	V	273;393;378	ENSP00000359916:L273V;ENSP00000298542:L393V;ENSP00000417996:L378V	ENSP00000298542:L393V	L	-	1	2	FRMD7	131040549	1.000000	0.71417	0.536000	0.28039	0.017000	0.09413	2.670000	0.46833	1.228000	0.43614	0.600000	0.82982	CTG		0.478	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		71	38	0	0	0	0	71	38				
AHNAK	79026	broad.mit.edu	37	11	62299831	62299831	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr11:62299831delC	ENST00000378024.4	-	5	2332	c.2058delG	c.(2056-2058)aagfs	p.K686fs	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	686					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TATCAGGCAGCTTAACATCGG	0.473																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(2056-2058)AAGfs		AHNAK nucleoprotein isoform 1							171.0	166.0	168.0					11																	62299831		2202	4299	6501	SO:0001589	frameshift_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62299831delC	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2058delG	11.37:g.62299831delC	ENSP00000367263:p.Lys686fs					AHNAK_uc001ntk.1_Intron	p.K686fs	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	2358	-		Melanoma(852;0.155)	686					A1A586	Frame_Shift_Del	DEL	ENST00000378024.4	37	c.2058delG	CCDS31584.1																																																																																				0.473	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		18	78	NA	NA	NA	NA	18	78	---	---	---	---
CYP27B1	1594	broad.mit.edu	37	12	58162860	58162879	+	5'Flank	DEL	CTTCCCTCCATTACGTAGAA	CTTCCCTCCATTACGTAGAA	-	rs140194153	byFrequency	TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr12:58162860_58162879delCTTCCCTCCATTACGTAGAA	ENST00000228606.4	-	0	0				METTL21B_ENST00000548256.1_5'Flank|METTL1_ENST00000257848.7_3'UTR|METTL1_ENST00000324871.7_Frame_Shift_Del_p.VLRNGGK244fs|CYP27B1_ENST00000546496.1_5'Flank|METTL1_ENST00000548681.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1						bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	CTGGGAAATTCTTCCCTCCATTACGTAGAACTTTCTTCCC	0.527																																						uc010ssd.1		NA																	0					0						c.(730-750)GTTCTACGTAATGGAGGGAAGfs		methyltransferase-like protein 1 isoform a																																				SO:0001631	upstream_gene_variant	4234					cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding	g.chr12:58162860_58162879delCTTCCCTCCATTACGTAGAA	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457		12.37:g.58162860_58162879delCTTCCCTCCATTACGTAGAA	Exception_encountered					CYP27B1_uc001spz.1_5'Flank|CYP27B1_uc001sqa.1_5'Flank|METTL1_uc009zqc.2_3'UTR	p.V244fs	NM_005371	NP_005362	Q9UBP6	TRMB_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.211)		6	779_798	-	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		244_250					B2RC61|Q548T3	Frame_Shift_Del	DEL	ENST00000228606.4	37	c.731_750delTTCTACGTAATGGAGGGAAG	CCDS8954.1																																																																																				0.527	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		11	39	NA	NA	NA	NA	11	39	---	---	---	---
NOS1	4842	broad.mit.edu	37	12	117703229	117703230	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr12:117703229_117703230insC	ENST00000338101.4	-	11	2031_2032	c.2027_2028insG	c.(2026-2028)ggcfs	p.G676fs	NOS1_ENST00000317775.6_Frame_Shift_Ins_p.G676fs|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CGGCAGGGCAGCCCCCCCGGCA	0.604																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1		NA																	0				ovary(3)|skin(3)|pancreas(1)	7						c.(2026-2028)GGCfs		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)																																			SO:0001589	frameshift_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117703229_117703230insC		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2028dupG	12.37:g.117703236_117703236dupC	ENSP00000337459:p.Gly676fs						p.G676fs	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	12	2713_2714	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		676						Frame_Shift_Ins	INS	ENST00000338101.4	37	c.2027_2028insG	CCDS55890.1																																																																																				0.604	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			10	9	NA	NA	NA	NA	10	9	---	---	---	---
UTP14C	9724	broad.mit.edu	37	13	52603224	52603229	+	In_Frame_Del	DEL	CTTCAT	CTTCAT	-			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr13:52603224_52603229delCTTCAT	ENST00000521776.2	+	2	1017_1022	c.284_289delCTTCAT	c.(283-291)acttcatct>act	p.SS96del	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	96					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CCCGTTAAAACTTCATCTTCTTTGGC	0.427																																						uc001vgb.2		NA																	0				ovary(3)|large_intestine(1)|breast(1)	5						c.(283-291)ACTTCATCT>ACT		UTP14, U3 small nucleolar ribonucleoprotein,																																				SO:0001651	inframe_deletion	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52603224_52603229delCTTCAT	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.284_289delCTTCAT	13.37:g.52603224_52603229delCTTCAT	ENSP00000428619:p.Ser96_Ser97del					UTP14C_uc001vga.2_3'UTR|UTP14C_uc001vgc.2_RNA	p.SS96del	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	819_824	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	96_97					Q5FWG3|Q92555	In_Frame_Del	DEL	ENST00000521776.2	37	c.284_289delCTTCAT	CCDS31978.1																																																																																				0.427	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		9	112	NA	NA	NA	NA	9	112	---	---	---	---
SLC22A17	51310	broad.mit.edu	37	14	23821365	23821365	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr14:23821365delA	ENST00000206544.8	-	1	395	c.59delT	c.(58-60)ttcfs	p.F20fs	SLC22A17_ENST00000397260.3_5'UTR|SLC22A17_ENST00000354772.3_Frame_Shift_Del_p.F20fs|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Frame_Shift_Del_p.F20fs	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	20					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ATTAGGGGGGAAGGCCCCGTA	0.711																																						uc001wjl.2		NA																	0					0						c.(58-60)TTCfs		solute carrier family 22, member 17 isoform a							7.0	8.0	8.0					14																	23821365		2180	4225	6405	SO:0001589	frameshift_variant	51310				siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity	g.chr14:23821365delA	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"""Solute carriers"""	23095	protein-coding gene	gene with protein product	"""neutrophil gelatinase-associated lipocalin receptor"""	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.59delT	14.37:g.23821365delA	ENSP00000206544:p.Phe20fs					SLC22A17_uc010akk.2_5'UTR|SLC22A17_uc001wjn.2_RNA|SLC22A17_uc001wjm.2_Frame_Shift_Del_p.F20fs|SLC22A17_uc010akl.1_Frame_Shift_Del_p.F20fs	p.F20fs	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	1	115	-	all_cancers(95;7.12e-06)		20					A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Frame_Shift_Del	DEL	ENST00000206544.8	37	c.59delT	CCDS9593.1																																																																																				0.711	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	NM_020372		2	4	NA	NA	NA	NA	2	4	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21086866	21086878	+	Frame_Shift_Del	DEL	CACCAATGGGCTC	CACCAATGGGCTC	-			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr16:21086866_21086878delCACCAATGGGCTC	ENST00000261383.3	-	21	2973_2985	c.2974_2986delGAGCCCATTGGTG	c.(2974-2988)gagcccattggtgcafs	p.EPIGA992fs	DNAH3_ENST00000415178.1_Frame_Shift_Del_p.EPIGA992fs	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	992	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.I994T(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTGGCAGCTGCACCAATGGGCTCCAATCTAAAG	0.479																																						uc010vbe.1		NA																	2	Substitution - Missense(2)		breast(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(2974-2988)GAGCCCATTGGTGCAfs		dynein, axonemal, heavy chain 3																																				SO:0001589	frameshift_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21086866_21086878delCACCAATGGGCTC	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.2974_2986delGAGCCCATTGGTG	16.37:g.21086866_21086878delCACCAATGGGCTC	ENSP00000261383:p.Glu992fs						p.E992fs	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	21	2974_2986	-			992_996			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Frame_Shift_Del	DEL	ENST00000261383.3	37	c.2974_2986delGAGCCCATTGGTG	CCDS10594.1																																																																																				0.479	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		8	28	NA	NA	NA	NA	8	28	---	---	---	---
TERF2	7014	broad.mit.edu	37	16	69400835	69400843	+	In_Frame_Del	DEL	GACCAATCT	GACCAATCT	-			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr16:69400835_69400843delGACCAATCT	ENST00000254942.3	-	7	1223_1231	c.1207_1215delAGATTGGTC	c.(1207-1215)agattggtcdel	p.RLV403del	TERF2_ENST00000569611.2_5'Flank|TERF2_ENST00000603068.1_In_Frame_Del_p.RLV361del	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	403					age-dependent telomere shortening (GO:0001309)|cell cycle (GO:0007049)|cellular senescence (GO:0090398)|in utero embryonic development (GO:0001701)|negative regulation of telomere maintenance (GO:0032205)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|positive regulation of telomere maintenance (GO:0032206)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)|telomeric loop formation (GO:0031627)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded telomeric DNA binding (GO:0003691)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				CCTCCTCCAAGACCAATCTGCTTATTGTC	0.569																																					Ovarian(13;63 524 30420 31710 34037)	uc002exd.2		NA																	0				lung(1)	1						c.(1081-1089)AGATTGGTCdel		telomeric repeat binding factor 2																																				SO:0001651	inframe_deletion	7014				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity	g.chr16:69400835_69400843delGACCAATCT		CCDS10879.1, CCDS10879.2	16q22.1	2008-02-05			ENSG00000132604	ENSG00000132604			11729	protein-coding gene	gene with protein product		602027		TRBF2		9326950, 10226653	Standard	NM_005652		Approved	TRF2	uc002exd.4	Q15554	OTTHUMG00000137566	ENST00000254942.3:c.1207_1215delAGATTGGTC	16.37:g.69400835_69400843delGACCAATCT	ENSP00000254942:p.Arg403_Val405del						p.RLV361del	NM_005652	NP_005643	Q15554	TERF2_HUMAN			7	1206_1214	-		Ovarian(137;0.101)	361_363						In_Frame_Del	DEL	ENST00000254942.3	37	c.1081_1089delAGATTGGTC																																																																																					0.569	TERF2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000268944.2			11	27	NA	NA	NA	NA	11	27	---	---	---	---
HTR3D	200909	broad.mit.edu	37	3	183756319	183756329	+	Frame_Shift_Del	DEL	CTGCTGCTGCA	CTGCTGCTGCA	-			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr3:183756319_183756329delCTGCTGCTGCA	ENST00000382489.3	+	7	1042_1052	c.1042_1052delCTGCTGCTGCA	c.(1042-1053)ctgctgctgcacfs	p.LLLH348fs	HTR3D_ENST00000428798.2_Frame_Shift_Del_p.LLLH298fs|HTR3D_ENST00000334128.2_Frame_Shift_Del_p.LLLH173fs|HTR3D_ENST00000453435.1_Frame_Shift_Del_p.LLLH127fs	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	348					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	GCTCCACTCCCTGCTGCTGCACTGCACCGGC	0.654																																						uc011bqv.1		NA																	0					0						c.(1042-1053)CTGCTGCTGCACfs		5-hydroxytryptamine receptor 3 subunit D isoform																																				SO:0001589	frameshift_variant	200909					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183756319_183756329delCTGCTGCTGCA	AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24004	protein-coding gene	gene with protein product		610122	"""5-hydroxytryptamine (serotonin) receptor 3 family member D"""			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.1042_1052delCTGCTGCTGCA	3.37:g.183756319_183756329delCTGCTGCTGCA	ENSP00000371929:p.Leu348fs					HTR3D_uc003fmj.2_Frame_Shift_Del_p.L173fs|HTR3D_uc011bqu.1_Frame_Shift_Del_p.L298fs|HTR3D_uc010hxp.2_Frame_Shift_Del_p.L127fs	p.L348fs	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		7	1042_1052	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		348_351			Cytoplasmic (Potential).		C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Frame_Shift_Del	DEL	ENST00000382489.3	37	c.1042_1052delCTGCTGCTGCA	CCDS54685.1																																																																																				0.654	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	NM_182537		14	98	NA	NA	NA	NA	14	98	---	---	---	---
EHHADH	1962	broad.mit.edu	37	3	184910480	184910493	+	Frame_Shift_Del	DEL	CCTAATTCACAGAG	CCTAATTCACAGAG	-			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr3:184910480_184910493delCCTAATTCACAGAG	ENST00000231887.3	-	7	1768_1781	c.1693_1706delCTCTGTGAATTAGG	c.(1693-1707)ctctgtgaattaggafs	p.LCELG565fs	EHHADH_ENST00000456310.1_Frame_Shift_Del_p.LCELG469fs|EHHADH-AS1_ENST00000417720.1_RNA	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	565	3-hydroxyacyl-CoA dehydrogenase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			GCCAAATCGTCCTAATTCACAGAGCACATCAGGA	0.472																																						uc003fpf.2		NA																	0				ovary(3)	3						c.(1693-1707)CTCTGTGAATTAGGAfs		enoyl-Coenzyme A, hydratase/3-hydroxyacyl	NADH(DB00157)																																			SO:0001589	frameshift_variant	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184910480_184910493delCCTAATTCACAGAG	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.1693_1706delCTCTGTGAATTAGG	3.37:g.184910480_184910493delCCTAATTCACAGAG	ENSP00000231887:p.Leu565fs					EHHADH_uc011brs.1_Frame_Shift_Del_p.L469fs	p.L565fs	NM_001966	NP_001957	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		7	1720_1733	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		565_569			3-hydroxyacyl-CoA dehydrogenase.		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Frame_Shift_Del	DEL	ENST00000231887.3	37	c.1693_1706delCTCTGTGAATTAGG	CCDS33901.1																																																																																				0.472	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			9	104	NA	NA	NA	NA	9	104	---	---	---	---
FBXL7	23194	broad.mit.edu	37	5	15937151	15937151	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr5:15937151delG	ENST00000504595.1	+	4	1813	c.1332delG	c.(1330-1332)cagfs	p.Q444fs	FBXL7_ENST00000329673.7_Frame_Shift_Del_p.Q432fs|FBXL7_ENST00000510662.1_Frame_Shift_Del_p.Q397fs|MIR887_ENST00000401258.1_RNA	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	444					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TCACCGGCCAGGGCTTGCAGA	0.612																																						uc003jfn.1		NA																	0				ovary(2)|lung(1)	3						c.(1330-1332)CAGfs		F-box and leucine-rich repeat protein 7							47.0	51.0	49.0					5																	15937151		2053	4208	6261	SO:0001589	frameshift_variant	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15937151delG	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.1332delG	5.37:g.15937151delG	ENSP00000423630:p.Gln444fs						p.Q444fs	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			4	1813	+			444			LRR 11.		B9EGF1|D6RDY7|O94926	Frame_Shift_Del	DEL	ENST00000504595.1	37	c.1332delG	CCDS54833.1																																																																																				0.612	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		20	32	NA	NA	NA	NA	20	32	---	---	---	---
RAB32	10981	broad.mit.edu	37	6	146865145	146865145	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr6:146865145delC	ENST00000367495.3	+	1	317	c.138delC	c.(136-138)gtcfs	p.V46fs		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	46					antigen processing and presentation (GO:0019882)|endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		AGCGCTACGTCCACCAGCTCT	0.662																																						uc003qln.1		NA																	0					0						c.(136-138)GTCfs		RAB32, member RAS oncogene family							68.0	58.0	61.0					6																	146865145		2203	4300	6503	SO:0001589	frameshift_variant	10981				protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding	g.chr6:146865145delC	U71127	CCDS5210.1	6q24.2	2010-08-20			ENSG00000118508	ENSG00000118508		"""RAB, member RAS oncogene"", ""A-kinase anchor proteins"""	9772	protein-coding gene	gene with protein product		612906					Standard	NM_006834		Approved		uc003qln.1	Q13637	OTTHUMG00000015755	ENST00000367495.3:c.138delC	6.37:g.146865145delC	ENSP00000356465:p.Val46fs						p.V46fs	NM_006834	NP_006825	Q13637	RAB32_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)	1	318	+		Ovarian(120;0.142)	46						Frame_Shift_Del	DEL	ENST00000367495.3	37	c.138delC	CCDS5210.1																																																																																				0.662	RAB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042579.1	NM_006834		17	28	NA	NA	NA	NA	17	28	---	---	---	---
Unknown	0	broad.mit.edu	37	7	63667602	63667603	+	IGR	INS	-	-	T			TCGA-CQ-6221-01A-11D-2078-08	TCGA-CQ-6221-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d6166f0d-c0b5-44a3-814d-0c94c5bc41b0	393a336d-6a29-4e53-9285-3af63623db50	g.chr7:63667602_63667603insT								GUSBP6 (56503 upstream) : ZNF679 (21248 downstream)																							ACCGGGACCCCCTGGAAGCCGA	0.564																																						uc011kdn.1		NA																	0					0						c.(22-24)CCTfs		zinc finger protein 735																																				SO:0001628	intergenic_variant	730291				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63667602_63667603insT																													7.37:g.63667602_63667603insT							p.P8fs	NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN			1	22_23	+			8						Frame_Shift_Ins	INS		37	c.22_23insT																																																																																				0	0.564									23	44	NA	NA	NA	NA	23	44	---	---	---	---
