#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	909868	909868	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:909868C>T	ENST00000379409.2	+	15	1935	c.1905C>T	c.(1903-1905)ctC>ctT	p.L635L	PLEKHN1_ENST00000379410.3_Silent_p.L583L|PLEKHN1_ENST00000379407.3_Silent_p.L548L			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	635										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)		ACGACCACCTCTGGGACGAGA	0.647																																						uc001ace.2		NA																	0					0						c.(1903-1905)CTC>CTT		pleckstrin homology domain containing, family N							35.0	40.0	38.0					1																	909868		2203	4299	6502	SO:0001819	synonymous_variant	84069							g.chr1:909868C>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.1905C>T	1.37:g.909868C>T						PLEKHN1_uc001acd.2_Silent_p.L583L|PLEKHN1_uc001acf.2_Silent_p.L548L	p.L635L	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)	15	1940	+	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)	635					Q494U2|Q5SV98|Q9H0M7	Silent	SNP	ENST00000379409.2	37	c.1905C>T																																																																																					0.647	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		12	50	0	0	0	0	12	50				
PLEKHG5	57449	broad.mit.edu	37	1	6528107	6528107	+	Missense_Mutation	SNP	C	C	T	rs376237905		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:6528107C>T	ENST00000400915.3	-	21	3023	c.2957G>A	c.(2956-2958)cGa>cAa	p.R986Q	TNFRSF25_ENST00000351748.3_5'Flank|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.R930Q|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.R1009Q|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.R1007Q|PLEKHG5_ENST00000377725.1_Intron|TNFRSF25_ENST00000461703.2_5'Flank|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.R999Q|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000544978.1_Intron|TNFRSF25_ENST00000348333.3_5'Flank|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.R930Q|TNFRSF25_ENST00000351959.5_5'Flank|TNFRSF25_ENST00000377782.3_5'Flank|TNFRSF25_ENST00000356876.3_5'Flank|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.R930Q|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.R967Q|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.R930Q	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	986					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		AGGGGCCCCTCGGCAATCCCA	0.697																																						uc001ano.1		NA																	0				liver(1)	1						c.(2956-2958)CGA>CAA		pleckstrin homology domain containing family G		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4256		0,0,2128	6.0	8.0	7.0		2957,2789,2789,2789,3020	-8.3	0.0	1		7	2,8450		0,2,4224	no	missense,missense,missense,missense,missense	PLEKHG5	NM_001042663.1,NM_001042664.1,NM_001042665.1,NM_020631.3,NM_198681.2	43,43,43,43,43	0,2,6352	TT,TC,CC		0.0237,0.0,0.0157	benign,benign,benign,benign,benign	986/1063,930/1007,930/1007,930/1007,1007/1084	6528107	2,12706	2128	4226	6354	SO:0001583	missense	57449				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:6528107C>T	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.2957G>A	1.37:g.6528107C>T	ENSP00000383706:p.Arg986Gln					PLEKHG5_uc001ann.1_Missense_Mutation_p.R967Q|PLEKHG5_uc001anq.1_Intron|PLEKHG5_uc001anp.1_Missense_Mutation_p.R1007Q|TNFRSF25_uc001ana.2_5'Flank|TNFRSF25_uc001anb.2_5'Flank|TNFRSF25_uc001anc.2_5'Flank|TNFRSF25_uc001and.2_5'Flank|TNFRSF25_uc009vlz.2_5'Flank|TNFRSF25_uc001ane.2_5'Flank|TNFRSF25_uc001anf.2_5'Flank|TNFRSF25_uc001ang.2_5'Flank|TNFRSF25_uc001anh.2_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Missense_Mutation_p.R491Q|PLEKHG5_uc009vma.1_Missense_Mutation_p.R770Q|PLEKHG5_uc010nzr.1_Missense_Mutation_p.R999Q|PLEKHG5_uc001ank.1_Missense_Mutation_p.R930Q|PLEKHG5_uc009vmb.1_Intron|PLEKHG5_uc001anl.1_Missense_Mutation_p.R930Q|PLEKHG5_uc001anm.1_Missense_Mutation_p.R930Q|PLEKHG5_uc001anr.1_Missense_Mutation_p.R193Q	p.R986Q	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	21	3058	-	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	986					B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	ENST00000400915.3	37	c.2957G>A	CCDS41241.1	.	.	.	.	.	.	.	.	.	.	C	1.060	-0.673240	0.03403	0.0	2.37E-4	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377732;ENST00000377728;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245	T;T;T;T;T;T;T;T;T	0.66280	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.2	5.49	-8.27	0.01017	.	1.483520	0.03341	N	0.194783	T	0.31827	0.0809	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.13594	0.008;0.003;0.001	B;B;B	0.04013	0.001;0.001;0.0	T	0.30937	-0.9961	10	0.10636	T	0.68	0.0449	10.33	0.43816	0.0:0.5661:0.1326:0.3013	.	999;1007;986	F5GZ21;O94827-2;O94827	.;.;PKHG5_HUMAN	Q	1007;930;930;986;967;930;999;930;836;1009	ENSP00000366977:R1007Q;ENSP00000344570:R930Q;ENSP00000383704:R930Q;ENSP00000383706:R986Q;ENSP00000366961:R967Q;ENSP00000366957:R930Q;ENSP00000441445:R999Q;ENSP00000366966:R930Q;ENSP00000439625:R1009Q	ENSP00000344570:R930Q	R	-	2	0	PLEKHG5	6450694	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.023000	0.01438	-1.284000	0.02390	-0.244000	0.11960	CGA		0.697	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		4	10	0	0	0	0	4	10				
ZBTB48	3104	broad.mit.edu	37	1	6648384	6648384	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:6648384C>T	ENST00000377674.4	+	9	1721	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	521					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		AAAGGCCCTTCAGTTGCGAGT	0.642																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)	uc009vmc.1		NA																	0					0						c.(1561-1563)TTC>TTT		zinc finger and BTB domain containing 48							71.0	61.0	64.0					1																	6648384		2203	4300	6503	SO:0001819	synonymous_variant	3104					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:6648384C>T	BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4930	protein-coding gene	gene with protein product		165270	"""GLI-Kruppel family member HKR3"""	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.1563C>T	1.37:g.6648384C>T						ZBTB48_uc001anx.2_Silent_p.F521F|ZBTB48_uc009vmd.1_Silent_p.F521F|ZBTB48_uc001any.1_Silent_p.F159F	p.F521F	NM_005341	NP_005332	P10074	ZBT48_HUMAN		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)	9	1686	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	521			C2H2-type 9.		Q5SY19	Silent	SNP	ENST00000377674.4	37	c.1563C>T	CCDS84.1																																																																																				0.642	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341		26	58	0	0	0	0	26	58				
AADACL4	343066	broad.mit.edu	37	1	12726745	12726745	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:12726745G>A	ENST00000376221.1	+	4	1223	c.1223G>A	c.(1222-1224)tGa>tAa	p.*408*		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	0						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		AAGGGCATATGATAGTAACCC	0.438																																						uc001auf.2		NA																	0					0						c.(1222-1224)TGA>TAA		arylacetamide deacetylase-like 4							52.0	56.0	55.0					1																	12726745		2098	4250	6348	SO:0001819	synonymous_variant	343066					integral to membrane	carboxylesterase activity	g.chr1:12726745G>A		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.1223G>A	1.37:g.12726745G>A							p.*408*	NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	4	1223	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	408						Silent	SNP	ENST00000376221.1	37	c.1223G>A	CCDS30590.1																																																																																				0.438	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		39	128	0	0	0	0	39	128				
PRAMEF12	390999	broad.mit.edu	37	1	12835020	12835020	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:12835020C>T	ENST00000357726.4	+	1	37	c.10C>T	c.(10-12)Cag>Tag	p.Q4*		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	4					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GATGAGCCTCCAGGCCCCACC	0.542																																						uc001aui.2		NA																	0				ovary(3)	3						c.(10-12)CAG>TAG		PRAME family member 12							43.0	50.0	48.0					1																	12835020		2190	4298	6488	SO:0001587	stop_gained	390999							g.chr1:12835020C>T		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.10C>T	1.37:g.12835020C>T	ENSP00000350358:p.Gln4*						p.Q4*	NM_001080830	NP_001074299	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	37	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	4						Nonsense_Mutation	SNP	ENST00000357726.4	37	c.10C>T	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	16.35	3.099951	0.56183	.	.	ENSG00000116726	ENST00000357726	.	.	.	2.68	-1.45	0.08828	.	2.190130	0.02240	N	0.065696	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	7.2243	0.26005	0.0:0.5176:0.0:0.4824	.	.	.	.	X	4	.	ENSP00000350358:Q4X	Q	+	1	0	PRAMEF12	12757607	0.000000	0.05858	0.000000	0.03702	0.233000	0.25261	-2.694000	0.00828	-0.366000	0.08064	0.195000	0.17529	CAG		0.542	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		27	81	0	0	0	0	27	81				
PRAMEF1	65121	broad.mit.edu	37	1	12855732	12855732	+	Missense_Mutation	SNP	G	G	A	rs139798913		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:12855732G>A	ENST00000332296.7	+	4	1115	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.E93K	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	338					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CATCAGTCTTGAACCCCTCGG	0.522																																						uc001auj.1		NA																	0					0						c.(1012-1014)GAA>AAA		PRAME family member 1							139.0	147.0	144.0					1																	12855732		2203	4300	6503	SO:0001583	missense	65121							g.chr1:12855732G>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1012G>A	1.37:g.12855732G>A	ENSP00000332134:p.Glu338Lys						p.E338K	NM_023013	NP_075389	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1115	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	338			LRR 1.		Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.1012G>A	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	13.26	2.185098	0.38609	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.12361	2.69;2.69	1.56	1.56	0.23342	.	0.366977	0.20946	N	0.082822	T	0.18299	0.0439	L	0.54965	1.715	0.09310	N	1	P	0.52842	0.956	P	0.53102	0.718	T	0.04650	-1.0936	10	0.33141	T	0.24	.	6.5617	0.22489	0.0:0.0:1.0:0.0	.	338	O95521	PRAM1_HUMAN	K	338;93	ENSP00000332134:E338K;ENSP00000383616:E93K	ENSP00000332134:E338K	E	+	1	0	PRAMEF1	12778319	0.001000	0.12720	0.039000	0.18376	0.007000	0.05969	0.254000	0.18314	1.170000	0.42753	0.205000	0.17691	GAA		0.522	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		81	267	0	0	0	0	81	267				
PRAMEF11	440560	broad.mit.edu	37	1	12884942	12884942	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:12884942C>G	ENST00000535591.1	-	4	1364	c.1169G>C	c.(1168-1170)aGa>aCa	p.R390T	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	390					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TTGAGCAAATCTGCTCCAGCA	0.498																																						uc001auk.2		NA																	0					0						c.(1168-1170)AGA>ACA		PRAME family member 11							67.0	55.0	59.0					1																	12884942		692	1590	2282	SO:0001583	missense	440560							g.chr1:12884942C>G	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1169G>C	1.37:g.12884942C>G	ENSP00000439551:p.Arg390Thr						p.R390T	NM_001146344	NP_001139816	O60813	PRA11_HUMAN			4	1365	-			390						Missense_Mutation	SNP	ENST00000535591.1	37	c.1169G>C	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	8.495	0.862955	0.17178	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.52295	0.67;0.67	1.76	-0.581	0.11713	.	0.822734	0.10980	N	0.612781	T	0.62196	0.2408	M	0.81942	2.565	0.09310	N	1	D	0.76494	0.999	D	0.75020	0.985	T	0.50242	-0.8851	10	0.62326	D	0.03	.	3.3066	0.07002	0.0:0.4701:0.3315:0.1984	.	390	O60813	PRA11_HUMAN	T	390;431;390	ENSP00000439551:R390T;ENSP00000391839:R390T	ENSP00000328783:R431T	R	-	2	0	PRAMEF11	12807529	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.395000	0.07287	-0.155000	0.11098	0.407000	0.27541	AGA		0.498	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		106	306	0	0	0	0	106	306				
HNRNPCL1	343069	broad.mit.edu	37	1	12908067	12908067	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:12908067G>C	ENST00000317869.6	-	2	301	c.76C>G	c.(76-78)Ctt>Gtt	p.L26V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	26	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TTGACAACAAGAGTGTTGAGA	0.443																																						uc009vno.2		NA																	0					0						c.(76-78)CTT>GTT		heterogeneous nuclear ribonucleoprotein C-like							190.0	175.0	180.0					1																	12908067		2203	4300	6503	SO:0001583	missense	649330						nucleic acid binding|nucleotide binding	g.chr1:12908067G>C	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.76C>G	1.37:g.12908067G>C	ENSP00000365370:p.Leu26Val					HNRNPCL1_uc010obf.1_Missense_Mutation_p.L26V	p.L26V	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN			1	171	-			26					B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.76C>G	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.970628	0.34754	.	.	ENSG00000179172	ENST00000317869	T	0.16073	2.37	1.09	1.09	0.20402	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.528179	0.16993	U	0.191202	T	0.07999	0.0200	N	0.11255	0.115	0.29584	N	0.848975	B	0.10296	0.003	B	0.16722	0.016	T	0.26916	-1.0089	10	0.24483	T	0.36	.	8.1133	0.30928	0.0:0.0:1.0:0.0	.	26	O60812	HNRCL_HUMAN	V	26	ENSP00000365370:L26V	ENSP00000365370:L26V	L	-	1	0	HNRNPCL1	12830654	0.002000	0.14202	0.318000	0.25279	0.577000	0.36160	0.514000	0.22786	0.916000	0.36871	0.416000	0.27883	CTT		0.443	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		32	303	0	0	0	0	32	303				
HSPB7	27129	broad.mit.edu	37	1	16344280	16344280	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:16344280G>A	ENST00000311890.9	-	1	1005	c.179C>T	c.(178-180)tCg>tTg	p.S60L	HSPB7_ENST00000487046.1_Missense_Mutation_p.S60L|HSPB7_ENST00000406363.2_Missense_Mutation_p.S60L|HSPB7_ENST00000411503.1_Missense_Mutation_p.S60L|HSPB7_ENST00000375718.4_Missense_Mutation_p.S135L|HSPB7_ENST00000545268.1_Missense_Mutation_p.S60L	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	60	Required for localization to SC35 splicing speckles.				regulation of heart contraction (GO:0008016)|response to unfolded protein (GO:0006986)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGGGCTCCGAGTGGGGCCG	0.687																																						uc001axo.2		NA																	0					0						c.(178-180)TCG>TTG		cardiovascular heat shock protein							32.0	36.0	34.0					1																	16344280		2201	4297	6498	SO:0001583	missense	27129				regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding	g.chr1:16344280G>A	AF155908	CCDS30611.1	1p36.23-p34.3	2011-09-02	2002-08-29		ENSG00000173641	ENSG00000173641		"""Heat shock proteins / HSPB"""	5249	protein-coding gene	gene with protein product		610692	"""heat shock 27kD protein family, member 7 (cardiovascular)"""			10593960	Standard	NM_014424		Approved	cvHSP	uc001axo.2	Q9UBY9	OTTHUMG00000009531	ENST00000311890.9:c.179C>T	1.37:g.16344280G>A	ENSP00000310111:p.Ser60Leu					HSPB7_uc001axp.2_Missense_Mutation_p.S148L|HSPB7_uc001axq.2_Missense_Mutation_p.S148L|HSPB7_uc001axr.2_Missense_Mutation_p.S148L|HSPB7_uc001axs.2_Missense_Mutation_p.S135L|CLCNKA_uc001axt.2_5'Flank	p.S60L	NM_014424	NP_055239	Q9UBY9	HSPB7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)	1	1006	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	60			Required for localization to SC35 splicing speckles.		B3KQ37|C9K0Y0|Q9NU17	Missense_Mutation	SNP	ENST00000311890.9	37	c.179C>T	CCDS30611.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562870	0.27915	.	.	ENSG00000173641	ENST00000411503;ENST00000311890;ENST00000375718;ENST00000375714;ENST00000463576;ENST00000487046;ENST00000406363;ENST00000545268	D;D;D;D;D;D	0.95001	-2.95;-2.96;-2.95;-3.41;-3.58;-2.89	4.58	4.58	0.56647	.	0.300356	0.27336	N	0.019835	D	0.83926	0.5360	N	0.14661	0.345	0.34130	D	0.665146	B;P;P;P;B	0.49253	0.307;0.921;0.804;0.913;0.216	B;B;B;B;B	0.30572	0.02;0.062;0.062;0.117;0.019	D	0.86825	0.2007	10	0.24483	T	0.36	-5.4323	10.7269	0.46074	0.0:0.1931:0.8069:0.0	.	135;86;86;148;60	Q8N241;Q7Z3C1;Q5T5Q1;Q5T5Q2;Q9UBY9	.;.;.;.;HSPB7_HUMAN	L	60;60;135;148;14;60;60;60	ENSP00000391578:S60L;ENSP00000310111:S60L;ENSP00000364870:S135L;ENSP00000417966:S14L;ENSP00000419477:S60L;ENSP00000385472:S60L	ENSP00000310111:S60L	S	-	2	0	HSPB7	16216867	0.960000	0.32886	1.000000	0.80357	0.411000	0.31082	1.769000	0.38522	2.367000	0.80283	0.462000	0.41574	TCG		0.687	HSPB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026334.2	NM_014424		11	19	0	0	0	0	11	19				
ARHGEF10L	55160	broad.mit.edu	37	1	17961342	17961342	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:17961342G>C	ENST00000361221.3	+	18	1917	c.1758G>C	c.(1756-1758)gaG>gaC	p.E586D	ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.E547D|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.E344D|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.E581D|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.E359D|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.E547D|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.E289D	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	586						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GCCAGCTGGAGATCAGCAGCC	0.672																																						uc001ban.2		NA																	0				large_intestine(1)|ovary(1)|pancreas(1)	3						c.(1756-1758)GAG>GAC		Rho guanine nucleotide exchange factor (GEF)							38.0	39.0	39.0					1																	17961342		2203	4300	6503	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17961342G>C	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1758G>C	1.37:g.17961342G>C	ENSP00000355060:p.Glu586Asp					ARHGEF10L_uc009vpe.1_Missense_Mutation_p.E547D|ARHGEF10L_uc001bao.2_Missense_Mutation_p.E547D|ARHGEF10L_uc001bap.2_Missense_Mutation_p.E542D|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.E344D|ARHGEF10L_uc001baq.2_Missense_Mutation_p.E347D|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.E359D|ARHGEF10L_uc001bar.2_Missense_Mutation_p.E289D|ARHGEF10L_uc009vpf.2_RNA	p.E586D	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	18	1917	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	586					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.1758G>C	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420449	0.25639	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T;T	0.60920	0.5;0.51;2.45;0.51;0.15;2.45;2.45	4.86	4.86	0.63082	Pleckstrin homology-type (1);	0.068678	0.64402	D	0.000012	T	0.32071	0.0817	N	0.12887	0.27	0.34933	D	0.749503	B;B;B;B;B;B;B;B	0.12630	0.004;0.0;0.006;0.003;0.001;0.002;0.006;0.002	B;B;B;B;B;B;B;B	0.19391	0.006;0.002;0.025;0.019;0.003;0.009;0.01;0.005	T	0.35325	-0.9793	10	0.07644	T	0.81	-33.9974	6.7064	0.23252	0.0911:0.0:0.7305:0.1784	.	359;344;581;289;347;542;547;586	Q5VXI4;B4DTE2;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;.;ARGAL_HUMAN	D	586;547;581;547;344;359;359;289	ENSP00000355060:E586D;ENSP00000399401:E547D;ENSP00000394621:E581D;ENSP00000364564:E547D;ENSP00000364569:E344D;ENSP00000364557:E359D;ENSP00000167825:E289D	ENSP00000167825:E289D	E	+	3	2	ARHGEF10L	17833929	0.999000	0.42202	1.000000	0.80357	0.898000	0.52572	0.942000	0.29017	2.418000	0.82041	0.655000	0.94253	GAG		0.672	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		11	21	0	0	0	0	11	21				
KIF17	57576	broad.mit.edu	37	1	21031010	21031010	+	Silent	SNP	G	G	A	rs76507805		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:21031010G>A	ENST00000247986.2	-	5	1363	c.1053C>T	c.(1051-1053)cgC>cgT	p.R351R	KIF17_ENST00000400463.3_Silent_p.R351R|KIF17_ENST00000375044.1_Silent_p.R251R			Q9P2E2	KIF17_HUMAN	kinesin family member 17	351					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCTGGTACTCGCGAAGCAGCG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		15725	0.001		0.0	False		,,,				2504	0.0					uc001bdr.3		NA																	0				ovary(3)|skin(1)	4						c.(1051-1053)CGC>CGT		kinesin family member 17 isoform a		G	,	1,4405	2.1+/-5.4	0,1,2202	134.0	105.0	115.0		1053,1053	-4.3	1.0	1	dbSNP_131	115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KIF17	NM_001122819.1,NM_020816.2	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	351/1029,351/1030	21031010	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21031010G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1053C>T	1.37:g.21031010G>A						KIF17_uc001bds.3_Silent_p.R351R	p.R351R	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	5	1171	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	351			Potential.		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.1053C>T	CCDS213.1																																																																																				0.602	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		15	65	0	0	0	0	15	65				
CELA3A	10136	broad.mit.edu	37	1	22329569	22329569	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:22329569C>T	ENST00000290122.3	+	2	136	c.117C>T	c.(115-117)agC>agT	p.S39S	RN7SL768P_ENST00000584415.1_RNA|CELA3A_ENST00000374663.1_Silent_p.S39S	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	39	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCCCTACAGCTGGCCCTGGC	0.597																																						uc001bfl.2		NA																	0				haematopoietic_and_lymphoid_tissue(1)	1						c.(115-117)AGC>AGT		elastase 3A, pancreatic preproprotein							54.0	79.0	71.0					1																	22329569		2166	4290	6456	SO:0001819	synonymous_variant	10136				cholesterol metabolic process|digestion|proteolysis		serine-type endopeptidase activity	g.chr1:22329569C>T	D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"""protease E"""		"""elastase 3A, pancreatic (protease E)"", ""elastase 3A, pancreatic"""	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.117C>T	1.37:g.22329569C>T						CELA3B_uc009vqf.2_Intron	p.S39S	NM_005747	NP_005738	P09093	CEL3A_HUMAN			2	136	+			39			Peptidase S1.		B1AQ53|Q9BRW4	Silent	SNP	ENST00000290122.3	37	c.117C>T	CCDS220.1																																																																																				0.597	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747		22	121	0	0	0	0	22	121				
HNRNPR	10236	broad.mit.edu	37	1	23637048	23637048	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:23637048G>C	ENST00000374612.1	-	11	1924	c.1801C>G	c.(1801-1803)Cag>Gag	p.Q601E	HNRNPR_ENST00000478691.1_Missense_Mutation_p.Q503E|HNRNPR_ENST00000606561.1_Missense_Mutation_p.Q462E|HNRNPR_ENST00000427764.2_Missense_Mutation_p.Q563E|HNRNPR_ENST00000476660.1_5'UTR|HNRNPR_ENST00000426846.2_Missense_Mutation_p.Q441E|HNRNPR_ENST00000374616.3_Missense_Mutation_p.Q604E|HNRNPR_ENST00000302271.6_Missense_Mutation_p.Q601E	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	601	Asn/Gln-rich.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		AGCGGCTGCTGAGCGATGGGT	0.478																																						uc001bgr.3		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(1801-1803)CAG>GAG		heterogeneous nuclear ribonucleoprotein R							177.0	161.0	167.0					1																	23637048		2203	4300	6503	SO:0001583	missense	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23637048G>C	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.1801C>G	1.37:g.23637048G>C	ENSP00000363741:p.Gln601Glu					HNRNPR_uc001bgo.2_Missense_Mutation_p.Q211E|HNRNPR_uc001bgp.3_Missense_Mutation_p.Q604E|HNRNPR_uc009vqk.2_Missense_Mutation_p.Q503E|HNRNPR_uc001bgs.3_Missense_Mutation_p.Q500E|HNRNPR_uc010odw.1_Missense_Mutation_p.Q563E|HNRNPR_uc010odx.1_Missense_Mutation_p.Q441E|HNRNPR_uc009vql.2_Missense_Mutation_p.Q462E	p.Q601E	NM_005826	NP_005817	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	11	1960	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	601			Asn/Gln-rich.		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	ENST00000374612.1	37	c.1801C>G	CCDS232.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430916	0.43122	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	T;T;T;T;T	0.28255	1.62;1.64;1.64;2.18;2.32	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.55000	0.1893	M	0.70903	2.155	0.80722	D	1	P;P;P;P;P;P	0.52577	0.924;0.713;0.713;0.713;0.713;0.954	P;P;P;P;P;D	0.65140	0.857;0.585;0.585;0.585;0.585;0.932	T	0.56980	-0.7889	10	0.87932	D	0	-1.8459	17.4925	0.87708	0.0:0.0:1.0:0.0	.	441;563;462;581;601;604	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	E	604;601;601;563;441	ENSP00000363745:Q604E;ENSP00000363741:Q601E;ENSP00000304405:Q601E;ENSP00000392799:Q563E;ENSP00000415042:Q441E	ENSP00000304405:Q601E	Q	-	1	0	HNRNPR	23509635	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.596000	0.98267	2.710000	0.92621	0.650000	0.86243	CAG		0.478	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826		71	247	0	0	0	0	71	247				
SRRM1	10250	broad.mit.edu	37	1	24995948	24995948	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:24995948C>G	ENST00000323848.9	+	14	2389	c.2074C>G	c.(2074-2076)Cag>Gag	p.Q692E	SRRM1_ENST00000447431.2_Missense_Mutation_p.Q704E|snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.Q701E	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	692	Arg-rich.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TCGAGCTCCTCAGACCTCCTC	0.592																																					Ovarian(68;897 1494 3282 17478)	uc001bjm.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(2074-2076)CAG>GAG		serine/arginine repetitive matrix 1							66.0	61.0	63.0					1																	24995948		2203	4300	6503	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24995948C>G	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.2074C>G	1.37:g.24995948C>G	ENSP00000326261:p.Gln692Glu					SRRM1_uc010oel.1_Missense_Mutation_p.Q704E|SRRM1_uc009vrh.1_Missense_Mutation_p.Q665E|SRRM1_uc009vri.1_Missense_Mutation_p.Q621E	p.Q692E	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	14	2298	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	692			Pro-rich.|Arg-rich.|Ser-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.2074C>G	CCDS255.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151474	0.57151	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.28255	1.62;1.62;1.62	5.85	5.85	0.93711	.	0.099658	0.43579	D	0.000558	T	0.41834	0.1176	N	0.22421	0.69	0.80722	D	1	P;B	0.42518	0.782;0.001	P;B	0.57776	0.827;0.002	T	0.21861	-1.0233	10	0.59425	D	0.04	0.0783	18.3347	0.90283	0.0:1.0:0.0:0.0	.	704;692	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	E	692;704;701	ENSP00000326261:Q692E;ENSP00000391430:Q704E;ENSP00000363510:Q701E	ENSP00000326261:Q692E	Q	+	1	0	SRRM1	24868535	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.586000	0.46119	2.767000	0.95098	0.563000	0.77884	CAG		0.592	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		11	34	0	0	0	0	11	34				
ZNF683	257101	broad.mit.edu	37	1	26688267	26688267	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:26688267C>G	ENST00000436292.1	-	7	1570	c.1450G>C	c.(1450-1452)Gag>Cag	p.E484Q	ZNF683_ENST00000403843.1_Missense_Mutation_p.E484Q|ZNF683_ENST00000349618.3_Missense_Mutation_p.E464Q|ZNF683_ENST00000374204.1_Missense_Mutation_p.E464Q			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	484					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		ATGTGTTTCTCAGATGCCACC	0.602																																						uc001bmg.1		NA																	0					0						c.(1450-1452)GAG>CAG		zinc finger protein 683							119.0	117.0	118.0					1																	26688267		2203	4300	6503	SO:0001583	missense	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26688267C>G	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.1450G>C	1.37:g.26688267C>G	ENSP00000388792:p.Glu484Gln					ZNF683_uc001bmh.1_Missense_Mutation_p.E464Q|ZNF683_uc009vsj.1_Missense_Mutation_p.E464Q	p.E484Q	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	7	1568	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	484					Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	ENST00000436292.1	37	c.1450G>C		.	.	.	.	.	.	.	.	.	.	C	17.30	3.353977	0.61293	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618	T;T;T;T	0.11712	2.75;2.75;2.92;2.92	4.13	1.03	0.20045	.	0.353179	0.20623	N	0.088732	T	0.08802	0.0218	L	0.32530	0.975	0.09310	N	1	P;P	0.50943	0.94;0.901	P;B	0.47402	0.546;0.344	T	0.18903	-1.0322	10	0.40728	T	0.16	-13.0117	2.9849	0.05965	0.173:0.39:0.3377:0.0993	.	464;484	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	Q	484;484;464;464	ENSP00000384782:E484Q;ENSP00000388792:E484Q;ENSP00000363320:E464Q;ENSP00000344095:E464Q	ENSP00000344095:E464Q	E	-	1	0	ZNF683	26560854	0.008000	0.16893	0.017000	0.16124	0.541000	0.35023	1.206000	0.32321	0.110000	0.17919	0.561000	0.74099	GAG		0.602	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		35	127	0	0	0	0	35	127				
ARID1A	8289	broad.mit.edu	37	1	27101074	27101074	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:27101074G>C	ENST00000324856.7	+	18	4727	c.4356G>C	c.(4354-4356)caG>caC	p.Q1452H	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.Q1069H|ARID1A_ENST00000457599.2_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1452					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCGGCCCCCAGAACCAATTTC	0.587			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NA		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(4354-4356)CAG>CAC		AT rich interactive domain 1A isoform a							69.0	75.0	73.0					1																	27101074		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27101074G>C	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4356G>C	1.37:g.27101074G>C	ENSP00000320485:p.Gln1452His					ARID1A_uc001bmt.1_Missense_Mutation_p.Q1451H|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Missense_Mutation_p.Q1069H|ARID1A_uc001bmx.1_Missense_Mutation_p.Q298H|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	p.Q1452H	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	18	4729	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1452					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.4356G>C	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.94|15.94	2.980689|2.980689	0.53827|0.53827	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000374152	.|T;T	.|0.03920	.|3.95;3.76	5.54|5.54	4.63|4.63	0.57726|0.57726	.|.	.|0.110266	.|0.64402	.|D	.|0.000004	T|T	0.12263|0.12263	0.0298|0.0298	L|L	0.47190|0.47190	1.495|1.495	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.67145	.|0.995;0.996;0.991	.|P;P;P	.|0.61201	.|0.885;0.862;0.77	T|T	0.02339|0.02339	-1.1174|-1.1174	5|10	.|0.44086	.|T	.|0.13	-6.743|-6.743	11.3477|11.3477	0.49569|0.49569	0.1442:0.0:0.8558:0.0|0.1442:0.0:0.8558:0.0	.|.	.|1069;1452;1105	.|O14497-3;O14497;Q4LE49	.|.;ARI1A_HUMAN;.	Q|H	349|1452;1069	.|ENSP00000320485:Q1452H;ENSP00000363267:Q1069H	.|ENSP00000320485:Q1452H	E|Q	+|+	1|3	0|2	ARID1A|ARID1A	26973661|26973661	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.293000|3.293000	0.51779|0.51779	1.575000|1.575000	0.49775|0.49775	0.650000|0.650000	0.86243|0.86243	GAA|CAG		0.587	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		4	159	0	0	0	0	4	159				
ARID1A	8289	broad.mit.edu	37	1	27101465	27101465	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:27101465C>T	ENST00000324856.7	+	18	5118	c.4747C>T	c.(4747-4749)Cct>Tct	p.P1583S	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.P1200S|ARID1A_ENST00000457599.2_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1583					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GAATCACATTCCTCAGGTATC	0.602			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NA		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(4747-4749)CCT>TCT		AT rich interactive domain 1A isoform a							74.0	73.0	73.0					1																	27101465		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27101465C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4747C>T	1.37:g.27101465C>T	ENSP00000320485:p.Pro1583Ser					ARID1A_uc001bmt.1_Missense_Mutation_p.P1582S|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Missense_Mutation_p.P1200S|ARID1A_uc001bmx.1_Missense_Mutation_p.P429S|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	p.P1583S	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	18	5120	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1583					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.4747C>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.97|11.97	1.798377|1.798377	0.31777|0.31777	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000374152|ENST00000430799	T;T|.	0.03330|.	4.22;3.97|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.048845|.	0.85682|.	D|.	0.000000|.	T|T	0.61400|0.61400	0.2344|0.2344	L|L	0.35723|0.35723	1.085|1.085	0.80722|0.80722	D|D	1|1	D;D;D|.	0.67145|.	0.993;0.996;0.981|.	D;D;P|.	0.65140|.	0.915;0.932;0.69|.	T|T	0.54450|0.54450	-0.8292|-0.8292	10|5	0.06625|.	T|.	0.88|.	-5.3713|-5.3713	19.1727|19.1727	0.93585|0.93585	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1200;1583;1236|.	O14497-3;O14497;Q4LE49|.	.;ARI1A_HUMAN;.|.	S|F	1583;1200|479	ENSP00000320485:P1583S;ENSP00000363267:P1200S|.	ENSP00000320485:P1583S|.	P|S	+|+	1|2	0|0	ARID1A|ARID1A	26974052|26974052	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.737000|0.737000	0.42083|0.42083	7.186000|7.186000	0.77722|0.77722	2.779000|2.779000	0.95612|0.95612	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.602	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		40	75	0	0	0	0	40	75				
PHACTR4	65979	broad.mit.edu	37	1	28806962	28806962	+	Splice_Site	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:28806962G>A	ENST00000373839.3	+	9	1867		c.e9-1		RNU6ATAC27P_ENST00000408289.1_RNA|PHACTR4_ENST00000493669.1_Splice_Site|PHACTR4_ENST00000373836.3_Splice_Site	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4						actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CGTGTGCAAAGGTGCTCTCGC	0.428																																						uc001bpw.2		NA																	0					0						c.e9-1		phosphatase and actin regulator 4 isoform 1							92.0	83.0	86.0					1																	28806962		1913	4123	6036	SO:0001630	splice_region_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28806962G>A	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1607-1G>A	1.37:g.28806962G>A						PHACTR4_uc001bpv.1_Splice_Site|PHACTR4_uc001bpx.2_Splice_Site_p.S520_splice|PHACTR4_uc001bpy.2_Splice_Site_p.S546_splice	p.S536_splice	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	9	1889	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)						A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Splice_Site	SNP	ENST00000373839.3	37	c.1607_splice	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152264	0.57259	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	.	.	.	3.88	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1729	0.65522	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHACTR4	28679549	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.913000	0.87471	2.455000	0.83008	0.453000	0.30009	.		0.428	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923	Intron	20	88	0	0	0	0	20	88				
PHACTR4	65979	broad.mit.edu	37	1	28807096	28807096	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:28807096G>C	ENST00000373839.3	+	9	2001	c.1740G>C	c.(1738-1740)caG>caC	p.Q580H	RNU6ATAC27P_ENST00000408289.1_RNA|PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.Q590H	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	580					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TACGGCACCAGATTGGAAACA	0.418																																						uc001bpw.2		NA																	0					0						c.(1738-1740)CAG>CAC		phosphatase and actin regulator 4 isoform 1							226.0	208.0	214.0					1																	28807096		2005	4169	6174	SO:0001583	missense	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28807096G>C	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1740G>C	1.37:g.28807096G>C	ENSP00000362945:p.Gln580His					PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.Q564H|PHACTR4_uc001bpy.2_Missense_Mutation_p.Q590H	p.Q580H	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	9	2022	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	580					A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	c.1740G>C	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781649	0.70222	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.28895	1.59;1.59	5.62	2.58	0.30949	.	0.109014	0.64402	D	0.000004	T	0.51193	0.1660	M	0.79475	2.455	0.58432	D	0.999997	D;D	0.71674	0.993;0.998	D;D	0.70935	0.963;0.971	T	0.48969	-0.8987	10	0.72032	D	0.01	-4.6241	9.0019	0.36088	0.257:0.0:0.743:0.0	.	590;580	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	H	580;590;579	ENSP00000362945:Q580H;ENSP00000362942:Q590H	ENSP00000362942:Q590H	Q	+	3	2	PHACTR4	28679683	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.420000	0.34804	0.247000	0.21414	0.579000	0.79373	CAG		0.418	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		47	211	0	0	0	0	47	211				
C1orf94	84970	broad.mit.edu	37	1	34667794	34667794	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:34667794C>G	ENST00000488417.1	+	4	1500	c.1380C>G	c.(1378-1380)ctC>ctG	p.L460L	C1orf94_ENST00000373374.3_Silent_p.L270L	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	460										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				ACCAGCCACTCTGGCTCAACC	0.522																																						uc001bxs.3		NA																	0					0						c.(808-810)CTC>CTG		hypothetical protein LOC84970 isoform b							181.0	152.0	162.0					1																	34667794		2203	4300	6503	SO:0001819	synonymous_variant	84970						protein binding	g.chr1:34667794C>G	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1380C>G	1.37:g.34667794C>G						C1orf94_uc001bxt.2_Silent_p.L460L	p.L270L	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN			4	1209	+		Myeloproliferative disorder(586;0.0393)	270					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Silent	SNP	ENST00000488417.1	37	c.810C>G	CCDS44108.1																																																																																				0.522	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		19	55	0	0	0	0	19	55				
CLSPN	63967	broad.mit.edu	37	1	36230196	36230196	+	Missense_Mutation	SNP	C	C	T	rs139161179	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:36230196C>T	ENST00000318121.3	-	3	310	c.253G>A	c.(253-255)Gag>Aag	p.E85K	CLSPN_ENST00000520551.1_Missense_Mutation_p.E85K|CLSPN_ENST00000373220.3_Missense_Mutation_p.E85K|CLSPN_ENST00000251195.5_Missense_Mutation_p.E85K	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	85					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTTCCTCCTCGGCACTGTCA	0.373																																						uc001bzi.2		NA																	0				breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8						c.(253-255)GAG>AAG		claspin		C	LYS/GLU,LYS/GLU	6,4398	11.4+/-27.6	0,6,2196	76.0	79.0	78.0		253,253	5.8	0.5	1	dbSNP_134	78	0,8600		0,0,4300	yes	missense,missense	CLSPN	NM_001190481.1,NM_022111.3	56,56	0,6,6496	TT,TC,CC		0.0,0.1362,0.0461	benign,benign	85/1276,85/1340	36230196	6,12998	2202	4300	6502	SO:0001583	missense	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36230196C>T	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.253G>A	1.37:g.36230196C>T	ENSP00000312995:p.Glu85Lys					CLSPN_uc009vux.2_Missense_Mutation_p.E85K	p.E85K	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN			3	333	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	85					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	c.253G>A	CCDS396.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303649	0.81136	0.001362	0.0	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551;ENST00000544356	T;T;T;T	0.25085	1.83;1.84;1.82;1.83	5.8	5.8	0.92144	.	0.416883	0.24735	N	0.036037	T	0.44456	0.1294	L	0.54323	1.7	0.32885	D	0.511128	D;D	0.89917	0.999;1.0	P;D	0.66497	0.859;0.944	T	0.44298	-0.9337	10	0.25106	T	0.35	-7.7498	16.7899	0.85586	0.0:1.0:0.0:0.0	.	85;85	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	K	85	ENSP00000251195:E85K;ENSP00000312995:E85K;ENSP00000362317:E85K;ENSP00000428848:E85K	ENSP00000251195:E85K	E	-	1	0	CLSPN	36002783	0.571000	0.26659	0.542000	0.28115	0.859000	0.49053	2.921000	0.48852	2.744000	0.94065	0.655000	0.94253	GAG		0.373	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		23	160	0	0	0	0	23	160				
AGO3	192669	broad.mit.edu	37	1	36521242	36521242	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:36521242G>A	ENST00000373191.4	+	19	2828	c.2479G>A	c.(2479-2481)Gaa>Aaa	p.E827K	AGO3_ENST00000246314.6_Missense_Mutation_p.E593K	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	827					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)										TTACAGTGCTGAAGGAAGTCA	0.378																																						uc001bzp.2		NA																	0					0						c.(2479-2481)GAA>AAA		eukaryotic translation initiation factor 2C, 3							174.0	155.0	161.0					1																	36521242		2203	4300	6503	SO:0001583	missense	192669				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr1:36521242G>A	AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.2479G>A	1.37:g.36521242G>A	ENSP00000362287:p.Glu827Lys					EIF2C3_uc001bzq.2_Missense_Mutation_p.E593K	p.E827K	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN			19	2735	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	827					B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	c.2479G>A	CCDS399.1	.	.	.	.	.	.	.	.	.	.	G	30	5.052303	0.93793	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.10288	2.89;2.9	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	M	0.67397	2.05	0.80722	D	1	P	0.44877	0.845	P	0.51453	0.67	T	0.00253	-1.1875	10	0.34782	T	0.22	-33.0431	18.8946	0.92419	0.0:0.0:1.0:0.0	.	827	Q9H9G7	AGO3_HUMAN	K	827;593	ENSP00000362287:E827K;ENSP00000246314:E593K	ENSP00000246314:E593K	E	+	1	0	EIF2C3	36293829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.648000	0.89879	0.561000	0.74099	GAA		0.378	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		10	212	0	0	0	0	10	212				
SF3A3	10946	broad.mit.edu	37	1	38449853	38449853	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:38449853C>T	ENST00000373019.4	-	6	1411	c.456G>A	c.(454-456)ctG>ctA	p.L152L	SF3A3_ENST00000448721.2_Silent_p.L99L|SF3A3_ENST00000489537.1_5'UTR	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	152					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CAGATGCCTTCAGGTTAATGT	0.468																																						uc001cci.2		NA																	0					0						c.(454-456)CTG>CTA		splicing factor 3a, subunit 3							110.0	78.0	89.0					1																	38449853		2203	4300	6503	SO:0001819	synonymous_variant	10946				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding	g.chr1:38449853C>T	U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"""splicing factor 3a, subunit 3, 60kD"""			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.456G>A	1.37:g.38449853C>T						SF3A3_uc010oik.1_Silent_p.L99L	p.L152L	NM_006802	NP_006793	Q12874	SF3A3_HUMAN			6	580	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	152					D3DPT5|Q15460|Q5VT87	Silent	SNP	ENST00000373019.4	37	c.456G>A	CCDS428.1																																																																																				0.468	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012976.1	NM_006802		9	42	0	0	0	0	9	42				
MACF1	23499	broad.mit.edu	37	1	39792905	39792905	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:39792905G>A	ENST00000372915.3	+	35	4596	c.4509G>A	c.(4507-4509)gaG>gaA	p.E1503E	MACF1_ENST00000545844.1_Silent_p.E1503E|MACF1_ENST00000539005.1_Silent_p.E1503E|MACF1_ENST00000317713.7_Silent_p.E1503E|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Silent_p.E1535E|MACF1_ENST00000564288.1_Silent_p.E1498E|MACF1_ENST00000361689.2_Silent_p.E1503E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1503					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGAAAAAGAGAAGAAACAAA	0.388																																						uc010ois.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(4507-4509)GAG>GAA		microfilament and actin filament cross-linker							56.0	54.0	55.0					1																	39792905		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39792905G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.4509G>A	1.37:g.39792905G>A						MACF1_uc001cda.1_Silent_p.E1411E|MACF1_uc001cdc.1_Silent_p.E590E|MACF1_uc001cdb.1_Silent_p.E590E	p.E1503E	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	4714	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.4509G>A		.	.	.	.	.	.	.	.	.	.	G	4.026	0.002390	0.07819	.	.	ENSG00000127603	ENST00000372925	T	0.37584	1.19	5.64	3.73	0.42828	.	.	.	.	.	T	0.49949	0.1587	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54576	-0.8273	6	0.72032	D	0.01	.	12.0684	0.53601	0.1426:0.0:0.8574:0.0	.	.	.	.	K	637	ENSP00000362016:E637K	ENSP00000362016:E637K	E	+	1	0	MACF1	39565492	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.395000	0.34520	1.508000	0.48769	0.644000	0.83932	GAA		0.388	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		13	74	0	0	0	0	13	74				
MACF1	23499	broad.mit.edu	37	1	39806314	39806314	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:39806314G>C	ENST00000372915.3	+	38	10458	c.10371G>C	c.(10369-10371)caG>caC	p.Q3457H	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.Q3489H|MACF1_ENST00000564288.1_Missense_Mutation_p.Q3452H|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.Q1892H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3457					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAATCTTCAGAAGTCTCTCA	0.433																																						uc010oiu.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(5674-5676)CAG>CAC		microfilament and actin filament cross-linker							88.0	88.0	88.0					1																	39806314		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39806314G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.10371G>C	1.37:g.39806314G>C	ENSP00000362006:p.Gln3457His					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.Q1892H	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		3	5807	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3457					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.5676G>C		.	.	.	.	.	.	.	.	.	.	G	15.03	2.711943	0.48517	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.37915	1.17;1.17	5.34	-3.89	0.04193	.	0.000000	0.50627	D	0.000108	T	0.50394	0.1613	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.66196	0.942	T	0.54282	-0.8317	10	0.72032	D	0.01	.	17.2953	0.87169	0.2511:0.0:0.7489:0.0	.	3457	Q9UPN3	MACF1_HUMAN	H	3457;1892	ENSP00000362006:Q3457H;ENSP00000289893:Q1892H	ENSP00000289893:Q1892H	Q	+	3	2	MACF1	39578901	0.997000	0.39634	0.953000	0.39169	0.978000	0.69477	0.171000	0.16685	-0.984000	0.03507	-0.670000	0.03821	CAG		0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		17	70	0	0	0	0	17	70				
MACF1	23499	broad.mit.edu	37	1	39833972	39833972	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:39833972G>C	ENST00000372915.3	+	49	13026	c.12939G>C	c.(12937-12939)aaG>aaC	p.K4313N	MACF1_ENST00000545844.1_Missense_Mutation_p.K2246N|MACF1_ENST00000539005.1_Missense_Mutation_p.K2246N|MACF1_ENST00000317713.7_Missense_Mutation_p.K2246N|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.K4345N|MACF1_ENST00000564288.1_Missense_Mutation_p.K4308N|MACF1_ENST00000361689.2_Missense_Mutation_p.K2246N|MACF1_ENST00000289893.4_Missense_Mutation_p.K2748N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4313					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGCTACAGAAGACAGTTAAAG	0.423																																						uc010oiu.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(8242-8244)AAG>AAC		microfilament and actin filament cross-linker							94.0	90.0	92.0					1																	39833972		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39833972G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.12939G>C	1.37:g.39833972G>C	ENSP00000362006:p.Lys4313Asn					MACF1_uc010ois.1_Missense_Mutation_p.K2246N|MACF1_uc001cda.1_Missense_Mutation_p.K2154N|MACF1_uc001cdc.1_Missense_Mutation_p.K1333N|MACF1_uc001cdb.1_Missense_Mutation_p.K1333N	p.K2748N	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		14	8375	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4313					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.8244G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.07|16.07	3.019594|3.019594	0.54576|0.54576	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.35421	.|1.31;1.31;1.31;1.31;1.31;1.31	6.02|6.02	0.675|0.675	0.17952|0.17952	.|.	.|0.444970	.|0.20820	.|N	.|0.085082	T|T	0.42854|0.42854	0.1221|0.1221	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D;B;P;B	.|0.60160	.|0.987;0.198;0.93;0.078	.|P;B;P;B	.|0.62298	.|0.9;0.17;0.646;0.108	T|T	0.18871|0.18871	-1.0323|-1.0323	5|10	.|0.35671	.|T	.|0.21	.|.	6.3208|6.3208	0.21217|0.21217	0.2888:0.1214:0.5898:0.0|0.2888:0.1214:0.5898:0.0	.|.	.|4313;2246;2246;2211	.|Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3	.|MACF1_HUMAN;.;.;.	H|N	1380|2246;4313;2246;2246;2246;2748	.|ENSP00000439537:K2246N;ENSP00000362006:K4313N;ENSP00000354573:K2246N;ENSP00000313438:K2246N;ENSP00000444364:K2246N;ENSP00000289893:K2748N	.|ENSP00000289893:K2748N	D|K	+|+	1|3	0|2	MACF1|MACF1	39606559|39606559	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.969000|0.969000	0.65631|0.65631	0.630000|0.630000	0.24553|0.24553	0.079000|0.079000	0.16929|0.16929	0.591000|0.591000	0.81541|0.81541	GAC|AAG		0.423	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		30	116	0	0	0	0	30	116				
TRIT1	54802	broad.mit.edu	37	1	40313713	40313713	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:40313713C>T	ENST00000316891.5	-	6	774	c.760G>A	c.(760-762)Gag>Aag	p.E254K	TRIT1_ENST00000545233.1_Missense_Mutation_p.E8K|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.E254K|TRIT1_ENST00000441669.2_Missense_Mutation_p.E172K|TRIT1_ENST00000537440.1_5'UTR|TRIT1_ENST00000537223.1_5'UTR	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	254	Interaction with isopentenylpyrophosphate transferase. {ECO:0000250}.				tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTTAGTTCCTCCAAGAGCCCA	0.428																																						uc010oiz.1		NA																	0				ovary(1)	1						c.(760-762)GAG>AAG		tRNA isopentenyltransferase 1 precursor							143.0	135.0	138.0					1																	40313713		2203	4300	6503	SO:0001583	missense	54802				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity	g.chr1:40313713C>T	AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.760G>A	1.37:g.40313713C>T	ENSP00000321810:p.Glu254Lys					TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_5'UTR|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_Missense_Mutation_p.E8K|TRIT1_uc001ceh.3_Missense_Mutation_p.E8K|TRIT1_uc009vvv.2_Missense_Mutation_p.E113K|TRIT1_uc001cei.3_Missense_Mutation_p.E8K|TRIT1_uc001ceq.2_5'UTR|TRIT1_uc001cek.2_5'UTR|TRIT1_uc009vvx.2_Intron|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Missense_Mutation_p.E172K|TRIT1_uc001cen.2_Missense_Mutation_p.E8K|TRIT1_uc001ceo.2_Missense_Mutation_p.E8K|TRIT1_uc001cep.2_Missense_Mutation_p.E8K	p.E254K	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		6	774	-	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	254			Interaction with isopentenylpyrophosphate transferase (By similarity).		A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	ENST00000316891.5	37	c.760G>A	CCDS30681.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787398	0.70337	.	.	ENSG00000043514	ENST00000046894;ENST00000372825;ENST00000441669;ENST00000316891;ENST00000372818;ENST00000534869;ENST00000545233	T;T;T	0.44482	0.92;0.92;0.92	5.97	5.05	0.67936	.	0.177509	0.64402	D	0.000012	T	0.38374	0.1038	L	0.45352	1.415	0.80722	D	1	B;B;B	0.17667	0.013;0.001;0.023	B;B;B	0.22152	0.038;0.007;0.029	T	0.12268	-1.0554	10	0.25751	T	0.34	-12.8342	16.5492	0.84464	0.1316:0.8683:0.0:0.0	.	254;254;172	Q9H3H1;Q9H3H1-4;Q9H3H1-5	MOD5_HUMAN;.;.	K	254;172;166;254;254;147;8	ENSP00000321810:E254K;ENSP00000361905:E254K;ENSP00000439596:E8K	ENSP00000046894:E254K	E	-	1	0	TRIT1	40086300	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.092000	0.64511	1.512000	0.48834	0.655000	0.94253	GAG		0.428	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646		35	137	0	0	0	0	35	137				
RLF	6018	broad.mit.edu	37	1	40703619	40703619	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:40703619C>G	ENST00000372771.4	+	8	3272	c.3245C>G	c.(3244-3246)tCa>tGa	p.S1082*		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1082					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GGATCTTTCTCAGGGTCATTG	0.408																																						uc001cfc.3		NA																	0				ovary(2)|pancreas(1)	3						c.(3244-3246)TCA>TGA		rearranged L-myc fusion							112.0	110.0	111.0					1																	40703619		2203	4300	6503	SO:0001587	stop_gained	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40703619C>G		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.3245C>G	1.37:g.40703619C>G	ENSP00000361857:p.Ser1082*					RLF_uc001cfd.3_Nonsense_Mutation_p.S773*	p.S1082*	NM_012421	NP_036553	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	3276	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1082					Q14CQ1|Q9NU60	Nonsense_Mutation	SNP	ENST00000372771.4	37	c.3245C>G	CCDS448.1	.	.	.	.	.	.	.	.	.	.	C	38	7.166539	0.98107	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	.	.	.	5.85	5.85	0.93711	.	0.529674	0.20020	N	0.100939	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-10.9232	15.9212	0.79575	0.0:0.828:0.172:0.0	.	.	.	.	X	1082;775	.	ENSP00000361857:S1082X	S	+	2	0	RLF	40476206	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.912000	0.39946	2.768000	0.95171	0.655000	0.94253	TCA		0.408	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		47	186	0	0	0	0	47	186				
ZNF684	127396	broad.mit.edu	37	1	41012566	41012566	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:41012566G>A	ENST00000372699.3	+	5	822	c.571G>A	c.(571-573)Gac>Aac	p.D191N	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	191					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			TGAATGCAATGACTGTGGAAA	0.393																																						uc001cft.1		NA																	0					0						c.(571-573)GAC>AAC		zinc finger protein 684							65.0	64.0	64.0					1																	41012566		2203	4300	6503	SO:0001583	missense	127396				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:41012566G>A		CCDS454.1	1p34.2	2013-01-08			ENSG00000117010	ENSG00000117010		"""Zinc fingers, C2H2-type"", ""-"""	28418	protein-coding gene	gene with protein product	"""hypothetical protein MGC27466"""					12477932	Standard	NM_152373		Approved	MGC27466	uc001cft.2	Q5T5D7	OTTHUMG00000007359	ENST00000372699.3:c.571G>A	1.37:g.41012566G>A	ENSP00000361784:p.Asp191Asn						p.D191N	NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)		5	822	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	191			C2H2-type 2.		Q2NKY4	Missense_Mutation	SNP	ENST00000372699.3	37	c.571G>A	CCDS454.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536051	0.27475	.	.	ENSG00000117010	ENST00000372699	T	0.07327	3.2	4.28	3.37	0.38596	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.437571	0.16956	N	0.192696	T	0.05777	0.0151	N	0.13140	0.3	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.31641	-0.9936	10	0.66056	D	0.02	.	10.211	0.43141	0.0991:0.0:0.9009:0.0	.	191	Q5T5D7	ZN684_HUMAN	N	191	ENSP00000361784:D191N	ENSP00000361784:D191N	D	+	1	0	ZNF684	40785153	0.000000	0.05858	0.414000	0.26521	0.837000	0.47467	-0.222000	0.09190	1.165000	0.42670	0.585000	0.79938	GAC		0.393	ZNF684-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019260.3	NM_152373		17	118	0	0	0	0	17	118				
EDN2	1907	broad.mit.edu	37	1	41946860	41946860	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:41946860C>G	ENST00000372587.4	-	4	418	c.349G>C	c.(349-351)Gaa>Caa	p.E117Q	EDN2_ENST00000490783.1_5'UTR	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2	117					artery smooth muscle contraction (GO:0014824)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|energy homeostasis (GO:0097009)|hormonal regulation of the force of heart contraction (GO:0003058)|inositol phosphate-mediated signaling (GO:0048016)|lung alveolus development (GO:0048286)|macrophage activation (GO:0042116)|macrophage chemotaxis (GO:0048246)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of the force of heart contraction by chemical signal (GO:0003099)|prostaglandin biosynthetic process (GO:0001516)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|temperature homeostasis (GO:0001659)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)			endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCCCGGCTTCAGTCCTACGT	0.632																																						uc001cgx.2		NA																	0					0						c.(349-351)GAA>CAA		endothelin 2 preproprotein							76.0	70.0	72.0					1																	41946860		2203	4300	6503	SO:0001583	missense	1907				artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity	g.chr1:41946860C>G	M65199	CCDS462.1	1p34	2013-02-26			ENSG00000127129	ENSG00000127129		"""Endogenous ligands"""	3177	protein-coding gene	gene with protein product		131241					Standard	NM_001956		Approved	ET2	uc009vwh.3	P20800	OTTHUMG00000006362	ENST00000372587.4:c.349G>C	1.37:g.41946860C>G	ENSP00000361668:p.Glu117Gln					EDN2_uc001cgu.2_Intron|EDN2_uc001cgv.2_RNA|EDN2_uc009vwh.2_5'UTR|EDN2_uc001cgw.2_Intron|EDN2_uc009vwi.2_RNA|EDN2_uc009vwj.2_Intron	p.E117Q	NM_001956	NP_001947	P20800	EDN2_HUMAN			4	421	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	117					Q5T1R3	Missense_Mutation	SNP	ENST00000372587.4	37	c.349G>C	CCDS462.1	.	.	.	.	.	.	.	.	.	.	C	8.039	0.763555	0.15914	.	.	ENSG00000127129	ENST00000372587	D	0.84070	-1.8	4.43	3.35	0.38373	.	1.196640	0.05979	N	0.643825	T	0.70962	0.3284	N	0.21508	0.67	0.09310	N	1	B	0.15930	0.015	B	0.14578	0.011	T	0.55648	-0.8108	10	0.13853	T	0.58	0.0609	6.5686	0.22525	0.0:0.8361:0.0:0.1639	.	117	P20800	EDN2_HUMAN	Q	117	ENSP00000361668:E117Q	ENSP00000361668:E117Q	E	-	1	0	EDN2	41719447	0.005000	0.15991	0.007000	0.13788	0.127000	0.20565	0.526000	0.22971	1.216000	0.43427	0.655000	0.94253	GAA		0.632	EDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000016983.1	NM_001956		35	95	0	0	0	0	35	95				
EBNA1BP2	10969	broad.mit.edu	37	1	43636430	43636430	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:43636430C>T	ENST00000236051.2	-	4	585	c.444G>A	c.(442-444)caG>caA	p.Q148Q	EBNA1BP2_ENST00000472982.1_5'Flank|WDR65_ENST00000372492.4_5'Flank|EBNA1BP2_ENST00000431635.2_Silent_p.Q203Q|WDR65_ENST00000528956.1_5'Flank	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	148					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTCTTACCTTCTGCATCTGCA	0.453																																						uc001cin.2		NA																	0					0						c.(442-444)CAG>CAA		EBNA1 binding protein 2 isoform 2							138.0	139.0	138.0					1																	43636430		2203	4300	6503	SO:0001819	synonymous_variant	10969				ribosome biogenesis	membrane fraction|nucleolus	protein binding	g.chr1:43636430C>T	U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"""EBNA1-binding protein 2"""			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.444G>A	1.37:g.43636430C>T						EBNA1BP2_uc001cio.2_Silent_p.Q203Q|WDR65_uc010ojz.1_5'Flank|WDR65_uc001cip.1_5'Flank|WDR65_uc001ciq.1_5'Flank|EBNA1BP2_uc001cim.2_Silent_p.Q43Q|EBNA1BP2_uc010ojx.1_Silent_p.Q203Q	p.Q148Q	NM_006824	NP_006815	Q99848	EBP2_HUMAN			4	641	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	148			Potential.		Q96A66	Silent	SNP	ENST00000236051.2	37	c.444G>A	CCDS478.1																																																																																				0.453	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1			77	308	0	0	0	0	77	308				
SZT2	23334	broad.mit.edu	37	1	43907221	43907221	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:43907221C>T	ENST00000562955.1	+	53	7387	c.7387C>T	c.(7387-7389)Cct>Tct	p.P2463S	SZT2_ENST00000372442.1_Missense_Mutation_p.P1621S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2520					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GACCCTTCATCCTGTGTTTGC	0.552																																						uc001cjk.1		NA																	0					0						c.(4861-4863)CCT>TCT		hypothetical protein LOC23334							273.0	247.0	255.0					1																	43907221		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43907221C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7387C>T	1.37:g.43907221C>T	ENSP00000457168:p.Pro2463Ser						p.P1621S	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			39	5323	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	2520					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.4861C>T	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	c	12.78	2.039427	0.35989	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.61	4.67	0.58626	.	0.119579	0.56097	D	0.000021	T	0.33206	0.0855	L	0.43152	1.355	0.23336	N	0.997889	B	0.22003	0.063	B	0.21151	0.033	T	0.19192	-1.0313	9	0.54805	T	0.06	.	8.2329	0.31608	0.0:0.7314:0.1315:0.1371	.	2463	Q5T011-5	.	S	1621	.	ENSP00000361519:P1621S	P	+	1	0	SZT2	43679808	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	3.126000	0.50477	2.650000	0.89964	0.651000	0.88453	CCT		0.552	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		96	381	0	0	0	0	96	381				
SZT2	23334	broad.mit.edu	37	1	43908875	43908875	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:43908875G>A	ENST00000562955.1	+	59	8265	c.8265G>A	c.(8263-8265)atG>atA	p.M2755I	SZT2_ENST00000372442.1_Missense_Mutation_p.M1913I	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2812					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGCGCCAGATGAAGATGGAAA	0.552																																						uc001cjk.1		NA																	0					0						c.(5737-5739)ATG>ATA		hypothetical protein LOC23334							160.0	152.0	155.0					1																	43908875		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43908875G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8265G>A	1.37:g.43908875G>A	ENSP00000457168:p.Met2755Ile						p.M1913I	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			45	6201	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	2812					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.5739G>A	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094614	0.56075	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.67	5.67	0.87782	.	0.120476	0.85682	D	0.000000	T	0.52709	0.1751	L	0.40543	1.245	0.32144	N	0.585136	B	0.19200	0.034	B	0.20955	0.032	T	0.53641	-0.8410	9	0.30854	T	0.27	.	19.7607	0.96316	0.0:0.0:1.0:0.0	.	2755	Q5T011-5	.	I	1913	.	ENSP00000361519:M1913I	M	+	3	0	SZT2	43681462	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.698000	0.84413	2.686000	0.91538	0.561000	0.74099	ATG		0.552	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		27	88	0	0	0	0	27	88				
B4GALT2	8704	broad.mit.edu	37	1	44456112	44456112	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:44456112C>T	ENST00000356836.6	+	7	1901	c.1111C>T	c.(1111-1113)Cgg>Tgg	p.R371W	B4GALT2_ENST00000372324.1_Missense_Mutation_p.R371W|CCDC24_ENST00000372318.3_5'Flank|B4GALT2_ENST00000309519.7_Missense_Mutation_p.R400W|B4GALT2_ENST00000434555.2_Missense_Mutation_p.R305W	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	371					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	GTGGCCCCCTCGGGGCTGACA	0.622																																						uc001clg.2		NA																	0				ovary(1)|skin(1)	2						c.(1111-1113)CGG>TGG		UDP-Gal:betaGlcNAc beta 1,4-	N-Acetyl-D-glucosamine(DB00141)						98.0	102.0	101.0					1																	44456112		2203	4300	6503	SO:0001583	missense	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44456112C>T	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"""Beta 4-glycosyltransferases"""	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.1111C>T	1.37:g.44456112C>T	ENSP00000349293:p.Arg371Trp					B4GALT2_uc001clh.2_Missense_Mutation_p.R305W|B4GALT2_uc010okl.1_Missense_Mutation_p.R400W|B4GALT2_uc001cli.2_Missense_Mutation_p.R371W|CCDC24_uc001clj.2_5'Flank|CCDC24_uc001clk.2_5'Flank|CCDC24_uc009vxc.2_5'Flank	p.R371W	NM_003780	NP_003771	O60909	B4GT2_HUMAN			7	1481	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	371			Lumenal (Potential).		B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Missense_Mutation	SNP	ENST00000356836.6	37	c.1111C>T	CCDS506.1	.	.	.	.	.	.	.	.	.	.	C	9.685	1.150442	0.21371	.	.	ENSG00000117411	ENST00000372324;ENST00000434555;ENST00000356836;ENST00000309519	T;T;T;T	0.50548	0.79;0.78;0.79;0.74	5.4	1.33	0.21861	.	0.567371	0.18339	N	0.144230	T	0.35595	0.0937	L	0.36672	1.1	0.33065	D	0.534568	B;B;B	0.13145	0.002;0.007;0.0	B;B;B	0.08055	0.0;0.003;0.0	T	0.38178	-0.9673	10	0.87932	D	0	-1.1447	9.6839	0.40087	0.0:0.7091:0.0:0.2909	.	400;305;371	B4DE14;O60909-2;O60909	.;.;B4GT2_HUMAN	W	371;305;371;400	ENSP00000361399:R371W;ENSP00000407468:R305W;ENSP00000349293:R371W;ENSP00000310696:R400W	ENSP00000310696:R400W	R	+	1	2	B4GALT2	44228699	0.578000	0.26717	0.310000	0.25168	0.057000	0.15508	1.119000	0.31258	0.055000	0.16094	-0.300000	0.09419	CGG		0.622	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		14	274	0	0	0	0	14	274				
CC2D1B	200014	broad.mit.edu	37	1	52821958	52821958	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:52821958G>C	ENST00000371586.2	-	18	2110	c.1972C>G	c.(1972-1974)Cag>Gag	p.Q658E	CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000438831.1_Missense_Mutation_p.Q33E|RP11-155O18.6_ENST00000606527.1_RNA|CC2D1B_ENST00000284376.3_Missense_Mutation_p.Q652E	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	658						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						TTGCGGTCCTGAGCAAGCTTC	0.572																																						uc001ctq.1		NA																	0				ovary(2)	2						c.(1972-1974)CAG>GAG		coiled-coil and C2 domain containing 1B							141.0	139.0	140.0					1																	52821958		2203	4300	6503	SO:0001583	missense	200014							g.chr1:52821958G>C	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.1972C>G	1.37:g.52821958G>C	ENSP00000360642:p.Gln658Glu					CC2D1B_uc001ctr.2_Missense_Mutation_p.Q198E|CC2D1B_uc001cts.2_Missense_Mutation_p.Q343E	p.Q658E	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN			18	2110	-			658					Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	37	c.1972C>G	CCDS30714.1	.	.	.	.	.	.	.	.	.	.	G	1.252	-0.618408	0.03663	.	.	ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573;ENST00000438831	T;T;T	0.15139	2.45;2.45;2.45	5.09	4.13	0.48395	.	0.204155	0.42420	N	0.000707	T	0.05777	0.0151	N	0.02181	-0.65	0.37036	D	0.896893	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.002;0.004;0.002	T	0.23940	-1.0174	10	0.02654	T	1	-7.3883	13.3044	0.60345	0.0:0.3953:0.6047:0.0	.	438;652;658	Q5T0G1;Q5T0F9-2;Q5T0F9	.;.;C2D1B_HUMAN	E	658;652;566;33	ENSP00000360642:Q658E;ENSP00000284376:Q652E;ENSP00000406300:Q33E	ENSP00000284376:Q652E	Q	-	1	0	CC2D1B	52594546	0.997000	0.39634	1.000000	0.80357	0.563000	0.35712	2.268000	0.43338	1.246000	0.43901	0.561000	0.74099	CAG		0.572	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449		64	299	0	0	0	0	64	299				
ZCCHC11	23318	broad.mit.edu	37	1	52981631	52981631	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:52981631C>G	ENST00000371544.3	-	3	1076	c.814G>C	c.(814-816)Gag>Cag	p.E272Q	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.E272Q|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.E272Q|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	272					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGCCTCTGCTCAGGTGTCAAT	0.368																																						uc001ctx.2		NA																	0				ovary(2)|skin(1)	3						c.(814-816)GAG>CAG		zinc finger, CCHC domain containing 11 isoform							131.0	121.0	124.0					1																	52981631		2202	4300	6502	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52981631C>G	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.814G>C	1.37:g.52981631C>G	ENSP00000360599:p.Glu272Gln					ZCCHC11_uc001cty.2_Missense_Mutation_p.E272Q|ZCCHC11_uc001ctz.2_Missense_Mutation_p.E272Q|ZCCHC11_uc009vze.1_Missense_Mutation_p.E272Q|ZCCHC11_uc009vzf.1_Missense_Mutation_p.E31Q|ZCCHC11_uc001cub.2_Missense_Mutation_p.E272Q|ZCCHC11_uc001cuc.2_RNA|ZCCHC11_uc001cud.2_Missense_Mutation_p.E272Q	p.E272Q	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN			3	1048	-			272					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.814G>C	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503631	0.85176	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723;ENST00000355809	T;T;T;T;D	0.83591	1.18;1.18;1.18;1.18;-1.74	5.26	5.26	0.73747	.	0.056142	0.64402	D	0.000001	D	0.90314	0.6970	M	0.65975	2.015	0.37762	D	0.926357	D;D;D;D;D	0.89917	0.993;1.0;0.998;1.0;1.0	P;D;D;D;D	0.80764	0.703;0.994;0.969;0.994;0.946	D	0.91319	0.5080	10	0.49607	T	0.09	.	18.8694	0.92306	0.0:1.0:0.0:0.0	.	31;272;272;272;272	E9PKX1;E9PKY2;Q5TAX3-2;E9PRG2;Q5TAX3	.;.;.;.;TUT4_HUMAN	Q	272;272;272;31;272	ENSP00000257177:E272Q;ENSP00000360599:E272Q;ENSP00000433486:E272Q;ENSP00000435256:E31Q;ENSP00000348063:E272Q	ENSP00000257177:E272Q	E	-	1	0	ZCCHC11	52754219	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.919000	0.70005	2.474000	0.83562	0.655000	0.94253	GAG		0.368	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		40	159	0	0	0	0	40	159				
ECHDC2	55268	broad.mit.edu	37	1	53373583	53373583	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:53373583C>G	ENST00000371522.4	-	4	414	c.321G>C	c.(319-321)gtG>gtC	p.V107V	ECHDC2_ENST00000541281.1_Silent_p.V61V|ECHDC2_ENST00000358358.5_Silent_p.V107V|ECHDC2_ENST00000536120.1_Silent_p.V61V	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	107					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						CAAACACCCCCACCTCTGCTT	0.592																																						uc001cup.3		NA																	0				central_nervous_system(1)	1						c.(319-321)GTG>GTC		enoyl Coenzyme A hydratase domain containing 2							114.0	104.0	108.0					1																	53373583		2203	4300	6503	SO:0001819	synonymous_variant	55268				fatty acid metabolic process	mitochondrion	lyase activity	g.chr1:53373583C>G	AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 2"""				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.321G>C	1.37:g.53373583C>G						ECHDC2_uc001cun.2_Silent_p.V61V|ECHDC2_uc001cuo.3_Silent_p.V107V|ECHDC2_uc010onk.1_Silent_p.V61V|ECHDC2_uc010onl.1_Silent_p.V61V|ECHDC2_uc010onm.1_Silent_p.V61V|ECHDC2_uc010onn.1_Silent_p.V61V	p.V107V	NM_018281	NP_060751	Q86YB7	ECHD2_HUMAN			4	567	-			107					D3DQ36|Q9NV38	Silent	SNP	ENST00000371522.4	37	c.321G>C	CCDS55600.1																																																																																				0.592	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	NM_018281		13	103	0	0	0	0	13	103				
NDC1	55706	broad.mit.edu	37	1	54269611	54269611	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:54269611G>C	ENST00000371429.3	-	10	1654	c.1056C>G	c.(1054-1056)ctC>ctG	p.L352L	NDC1_ENST00000537333.1_Silent_p.L17L|NDC1_ENST00000234725.8_Silent_p.L237L|NDC1_ENST00000540001.1_Silent_p.L352L	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	352					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										CTGGTTGGCTGAGGCTGAAAA	0.408																																						uc001cvs.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1054-1056)CTC>CTG		transmembrane protein 48							181.0	184.0	183.0					1																	54269611		2203	4300	6503	SO:0001819	synonymous_variant	55706				mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore	g.chr1:54269611G>C	AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"""nuclear division cycle 1 homolog (S. cerevisiae)"""	610115	"""transmembrane protein 48"""	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.1056C>G	1.37:g.54269611G>C						TMEM48_uc010onu.1_Silent_p.L312L|TMEM48_uc001cvt.2_Silent_p.L229L|TMEM48_uc009vzk.2_RNA|TMEM48_uc010onv.1_Silent_p.L17L	p.L352L	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN			10	1297	-			352			Cytoplasmic (Potential).		B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Silent	SNP	ENST00000371429.3	37	c.1056C>G	CCDS583.1																																																																																				0.408	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022101.1	NM_018087		98	424	0	0	0	0	98	424				
FAM151A	338094	broad.mit.edu	37	1	55089033	55089033	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:55089033G>C	ENST00000302250.2	-	1	196	c.36C>G	c.(34-36)gtC>gtG	p.V12V	RP11-240D10.4_ENST00000416119.1_RNA|FAM151A_ENST00000371304.2_Silent_p.V12V|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	12						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						ACACCCACTTGACCTGATTCT	0.612																																						uc001cxn.2		NA																	0					0						c.(34-36)GTC>GTG		hypothetical protein LOC338094							247.0	195.0	213.0					1																	55089033		2203	4300	6503	SO:0001819	synonymous_variant	338094					integral to membrane		g.chr1:55089033G>C	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.36C>G	1.37:g.55089033G>C						ACOT11_uc001cxm.1_Intron	p.V12V	NM_176782	NP_788954	Q8WW52	F151A_HUMAN			1	168	-			12					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Silent	SNP	ENST00000302250.2	37	c.36C>G	CCDS594.1																																																																																				0.612	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		53	233	0	0	0	0	53	233				
MROH7	374977	broad.mit.edu	37	1	55130890	55130890	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:55130890G>C	ENST00000421030.2	+	4	1567	c.1282G>C	c.(1282-1284)Gaa>Caa	p.E428Q	MROH7_ENST00000454855.2_5'UTR|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.E428Q|MROH7_ENST00000395690.2_Missense_Mutation_p.E428Q|MROH7_ENST00000339553.5_Missense_Mutation_p.E428Q|MROH7_ENST00000409996.1_5'UTR|MROH7_ENST00000545244.1_5'UTR	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	428						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											AGAGAAGACAGAAGGTGGCAA	0.552																																						uc010ooe.1		NA																	0					0						c.(1282-1284)GAA>CAA		hypothetical protein LOC374977							108.0	112.0	111.0					1																	55130890		2125	4242	6367	SO:0001583	missense	374977					integral to membrane	binding	g.chr1:55130890G>C	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1282G>C	1.37:g.55130890G>C	ENSP00000396622:p.Glu428Gln					C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_5'UTR|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_5'UTR|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.E428Q|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	p.E428Q	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN			4	1606	+			428					A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.1282G>C	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899348	0.33535	.	.	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000339553;ENST00000395690	T;T;T	0.04551	3.6;3.6;3.6	3.54	-0.562	0.11781	.	3.884750	0.00654	N	0.000567	T	0.04724	0.0128	N	0.22421	0.69	0.19775	N	0.999952	P;B	0.40476	0.718;0.403	B;B	0.38683	0.279;0.208	T	0.34601	-0.9822	10	0.62326	D	0.03	.	6.4772	0.22043	0.4549:0.0:0.5451:0.0	.	428;428	F8W8P2;Q68CQ1	.;HEAT8_HUMAN	Q	428;453;428;428	ENSP00000396622:E428Q;ENSP00000343211:E428Q;ENSP00000379044:E428Q	ENSP00000343211:E428Q	E	+	1	0	HEATR8	54903478	0.000000	0.05858	0.003000	0.11579	0.303000	0.27691	0.050000	0.14120	-0.091000	0.12440	0.561000	0.74099	GAA		0.552	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		9	82	0	0	0	0	9	82				
C1orf168	199920	broad.mit.edu	37	1	57257831	57257831	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:57257831G>C	ENST00000343433.6	-	2	735	c.655C>G	c.(655-657)Caa>Gaa	p.Q219E	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	219										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CTGATATGTTGAGAAATTACA	0.522																																						uc001cym.3		NA																	0				ovary(3)|skin(2)	5						c.(655-657)CAA>GAA		hypothetical protein LOC199920							77.0	85.0	82.0					1																	57257831		2202	4299	6501	SO:0001583	missense	199920							g.chr1:57257831G>C	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.655C>G	1.37:g.57257831G>C	ENSP00000345972:p.Gln219Glu					C1orf168_uc009vzu.1_RNA|C1orf168_uc009vzv.1_Missense_Mutation_p.Q219E	p.Q219E	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN			2	1061	-			219					Q63HM3|Q6ZUY6	Missense_Mutation	SNP	ENST00000343433.6	37	c.655C>G	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319835	0.23994	.	.	ENSG00000187889	ENST00000343433	T	0.33654	1.4	3.79	3.79	0.43588	.	0.805797	0.10691	N	0.645203	T	0.25717	0.0626	L	0.27053	0.805	0.09310	N	1	B;B	0.25904	0.137;0.073	B;B	0.27380	0.051;0.079	T	0.09862	-1.0655	10	0.14656	T	0.56	-0.7776	11.4527	0.50162	0.0:0.0:1.0:0.0	.	219;219	Q5VWT5-2;Q5VWT5	.;CA168_HUMAN	E	219	ENSP00000345972:Q219E	ENSP00000345972:Q219E	Q	-	1	0	C1orf168	57030419	0.577000	0.26708	0.015000	0.15790	0.002000	0.02628	1.120000	0.31271	2.422000	0.82143	0.563000	0.77884	CAA		0.522	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		50	279	0	0	0	0	50	279				
INADL	10207	broad.mit.edu	37	1	62455875	62455875	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:62455875G>C	ENST00000371158.2	+	28	3820	c.3706G>C	c.(3706-3708)Gaa>Caa	p.E1236Q	INADL_ENST00000543708.1_Missense_Mutation_p.E20Q|INADL_ENST00000545929.1_5'UTR|INADL_ENST00000316485.6_Missense_Mutation_p.E1236Q	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1236					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TCTGCCTGGAGAACTGCACAT	0.343																																						uc001dab.2		NA																	0				ovary(3)|skin(1)	4						c.(3706-3708)GAA>CAA		InaD-like							71.0	67.0	68.0					1																	62455875		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62455875G>C	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3706G>C	1.37:g.62455875G>C	ENSP00000360200:p.Glu1236Gln					INADL_uc009waf.1_Missense_Mutation_p.E1236Q|INADL_uc001daa.2_Missense_Mutation_p.E1236Q|INADL_uc001dad.3_Missense_Mutation_p.E933Q|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Missense_Mutation_p.E20Q|INADL_uc009wag.2_Missense_Mutation_p.E20Q|INADL_uc010oou.1_5'UTR	p.E1236Q	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			28	3820	+			1236					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.3706G>C	CCDS617.2	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424405	0.83667	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000307297;ENST00000543708	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.54	4.63	0.57726	PDZ/DHR/GLGF (1);	0.000000	0.64402	D	0.000001	T	0.58090	0.2098	L	0.55834	1.745	0.80722	D	1	P;B;B;D;D	0.71674	0.949;0.133;0.145;0.974;0.998	P;B;B;P;D	0.69654	0.702;0.347;0.303;0.814;0.965	T	0.60068	-0.7335	10	0.54805	T	0.06	.	14.3776	0.66889	0.0711:0.0:0.9289:0.0	.	20;695;1236;1236;1236	B4DE90;Q8NI35-5;F8W8T2;Q8NI35;Q8NI35-4	.;.;.;INADL_HUMAN;.	Q	1236;1236;1236;1236;20;20	ENSP00000360200:E1236Q;ENSP00000326199:E1236Q;ENSP00000307496:E20Q;ENSP00000445790:E20Q	ENSP00000307496:E20Q	E	+	1	0	INADL	62228463	1.000000	0.71417	0.965000	0.40720	0.983000	0.72400	6.737000	0.74816	1.338000	0.45544	0.591000	0.81541	GAA		0.343	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		17	90	0	0	0	0	17	90				
PDE4B	5142	broad.mit.edu	37	1	66838008	66838008	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:66838008G>A	ENST00000329654.4	+	17	2045	c.1858G>A	c.(1858-1860)Gac>Aac	p.D620N	PDE4B_ENST00000480109.2_Missense_Mutation_p.D387N|PDE4B_ENST00000371049.3_Missense_Mutation_p.D620N|PDE4B_ENST00000423207.2_Missense_Mutation_p.D605N|PDE4B_ENST00000371045.5_Missense_Mutation_p.D448N	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	620					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	TGGTTTCATCGACTACATTGT	0.413																																						uc001dcn.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1858-1860)GAC>AAC		phosphodiesterase 4B isoform 1	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						139.0	141.0	140.0					1																	66838008		2203	4300	6503	SO:0001583	missense	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66838008G>A	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.1858G>A	1.37:g.66838008G>A	ENSP00000332116:p.Asp620Asn					PDE4B_uc009war.2_Missense_Mutation_p.D528N|PDE4B_uc001dco.2_Missense_Mutation_p.D620N|PDE4B_uc001dcp.2_Missense_Mutation_p.D605N|PDE4B_uc001dcq.2_Missense_Mutation_p.D448N|PDE4B_uc009was.2_Missense_Mutation_p.D387N	p.D620N	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN			17	2049	+			620					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	c.1858G>A	CCDS632.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237346	0.79800	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000371045;ENST00000480109	T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	4.96	4.96	0.65561	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.78123	0.4234	M	0.62088	1.915	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.999;0.997;0.999;0.997	P;P;P;P;P	0.61874	0.895;0.822;0.861;0.889;0.889	T	0.80013	-0.1560	10	0.87932	D	0	.	18.3428	0.90311	0.0:0.0:1.0:0.0	.	387;605;490;610;620	A5YW33;Q07343-3;Q13945;Q59GM8;Q07343	.;.;.;.;PDE4B_HUMAN	N	620;620;620;605;448;387	ENSP00000332116:D620N;ENSP00000342637:D620N;ENSP00000360088:D620N;ENSP00000392947:D605N;ENSP00000360084:D448N;ENSP00000432592:D387N	ENSP00000332116:D620N	D	+	1	0	PDE4B	66610596	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	9.539000	0.98076	2.734000	0.93682	0.591000	0.81541	GAC		0.413	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		56	164	0	0	0	0	56	164				
WDR78	79819	broad.mit.edu	37	1	67340502	67340502	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:67340502G>A	ENST00000371026.3	-	5	817	c.762C>T	c.(760-762)gtC>gtT	p.V254V	WDR78_ENST00000371022.3_Silent_p.V254V|WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371023.3_Silent_p.V254V	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	254					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CAGAGACCATGACTGTGGGCA	0.373																																						uc001dcx.2		NA																	0				ovary(2)	2						c.(760-762)GTC>GTT		WD repeat domain 78 isoform 1							171.0	164.0	167.0					1																	67340502		2203	4300	6503	SO:0001819	synonymous_variant	79819							g.chr1:67340502G>A	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.762C>T	1.37:g.67340502G>A						WDR78_uc001dcy.2_Silent_p.V254V|WDR78_uc001dcz.2_Silent_p.V254V|WDR78_uc009waw.2_5'UTR|WDR78_uc009wax.2_Intron	p.V254V	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN			5	818	-			254					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Silent	SNP	ENST00000371026.3	37	c.762C>T	CCDS635.1																																																																																				0.373	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		49	151	0	0	0	0	49	151				
RPE65	6121	broad.mit.edu	37	1	68897200	68897200	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:68897200C>T	ENST00000262340.5	-	11	1250	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	399					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						GCCAGATAGTCTCGTCACTGC	0.463																																						uc001dei.1		NA																	0				ovary(1)	1						c.(1195-1197)GAG>GAA		retinal pigment epithelium-specific protein							58.0	62.0	60.0					1																	68897200		2203	4300	6503	SO:0001819	synonymous_variant	6121				visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	g.chr1:68897200C>T	U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.1197G>A	1.37:g.68897200C>T							p.E399E	NM_000329	NP_000320	Q16518	RPE65_HUMAN			11	1251	-			399					A8K1L0|Q5T9U3	Silent	SNP	ENST00000262340.5	37	c.1197G>A	CCDS643.1																																																																																				0.463	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329		25	42	0	0	0	0	25	42				
LRRC8D	55144	broad.mit.edu	37	1	90401042	90401042	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:90401042G>A	ENST00000337338.5	+	3	2822	c.2415G>A	c.(2413-2415)ctG>ctA	p.L805L	LRRC8D_ENST00000394593.3_Silent_p.L805L	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	805					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AGCTGGAGCTGAAGGGGAACT	0.527																																						uc001dnm.2		NA																	0				ovary(2)	2						c.(2413-2415)CTG>CTA		leucine rich repeat containing 8 family, member							58.0	56.0	56.0					1																	90401042		2203	4300	6503	SO:0001819	synonymous_variant	55144					integral to membrane	protein binding	g.chr1:90401042G>A	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.2415G>A	1.37:g.90401042G>A						LRRC8D_uc001dnn.2_Silent_p.L805L	p.L805L	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	2840	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	805			LRR 13.		D3DT29|Q6UWB2|Q9NVW3	Silent	SNP	ENST00000337338.5	37	c.2415G>A	CCDS726.1																																																																																				0.527	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		37	64	0	0	0	0	37	64				
FRRS1	391059	broad.mit.edu	37	1	100203724	100203724	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:100203724C>G	ENST00000414213.1	-	7	1278	c.677G>C	c.(676-678)aGa>aCa	p.R226T	FRRS1_ENST00000287474.5_Missense_Mutation_p.R226T			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	226	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		TTGGTCATCTCTTGTGAAGGA	0.458																																						uc001dsh.1		NA																	0				skin(1)	1						c.(676-678)AGA>ACA		stromal cell derived factor receptor 2 homolog							107.0	109.0	109.0					1																	100203724		2203	4300	6503	SO:0001583	missense	391059				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	g.chr1:100203724C>G	AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"""stromal cell derived factor receptor 2 homolog (mouse)"""	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.677G>C	1.37:g.100203724C>G	ENSP00000393884:p.Arg226Thr						p.R226T	NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)	7	1279	-		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)	226			DOMON.		A6NLN7	Missense_Mutation	SNP	ENST00000414213.1	37	c.677G>C		.	.	.	.	.	.	.	.	.	.	C	10.91	1.484397	0.26598	.	.	ENSG00000156869	ENST00000414213;ENST00000287474	T;T	0.76060	-0.99;-0.99	5.53	3.68	0.42216	.	0.574765	0.17331	N	0.178117	T	0.35364	0.0929	N	0.22421	0.69	0.31910	N	0.614848	B	0.26002	0.139	B	0.26517	0.07	T	0.05649	-1.0872	10	0.15499	T	0.54	-10.6478	6.9424	0.24500	0.0:0.6195:0.0:0.3805	.	226	Q6ZNA5-2	.	T	226	ENSP00000393884:R226T;ENSP00000287474:R226T	ENSP00000287474:R226T	R	-	2	0	FRRS1	99976312	0.000000	0.05858	0.721000	0.30653	0.967000	0.64934	0.172000	0.16704	0.816000	0.34421	0.655000	0.94253	AGA		0.458	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001013660		11	127	0	0	0	0	11	127				
CELSR2	1952	broad.mit.edu	37	1	109806290	109806290	+	Missense_Mutation	SNP	C	C	G	rs139381040		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:109806290C>G	ENST00000271332.3	+	9	4953	c.4892C>G	c.(4891-4893)tCg>tGg	p.S1631W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1631	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)		CATGGCCTCTCGCTGCCCATC	0.652											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NA																	0				ovary(4)|lung(3)|skin(1)	8						c.(4891-4893)TCG>TGG		cadherin EGF LAG seven-pass G-type receptor 2							106.0	97.0	100.0					1																	109806290		2203	4300	6503	SO:0001583	missense	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.chr1:109806290C>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.4892C>G	1.37:g.109806290C>G	ENSP00000271332:p.Ser1631Trp		OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1422		p.S1631W	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)	9	4953	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1631			Extracellular (Potential).|Laminin G-like 2.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.4892C>G	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084997	0.55861	.	.	ENSG00000143126	ENST00000271332	T	0.69926	-0.44	5.14	5.14	0.70334	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.40423	0.1116	N	0.08118	0	0.58432	D	0.999996	P	0.51933	0.949	P	0.46940	0.532	T	0.53027	-0.8496	9	0.62326	D	0.03	.	11.8255	0.52265	0.0:0.9194:0.0:0.0806	.	1631	Q9HCU4	CELR2_HUMAN	W	1631	ENSP00000271332:S1631W	ENSP00000271332:S1631W	S	+	2	0	CELSR2	109607813	0.271000	0.24162	0.963000	0.40424	0.993000	0.82548	0.817000	0.27281	2.686000	0.91538	0.561000	0.74099	TCG		0.652	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		56	124	0	0	0	0	56	124				
CTTNBP2NL	55917	broad.mit.edu	37	1	113000008	113000008	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:113000008G>C	ENST00000271277.6	+	6	2119	c.1894G>C	c.(1894-1896)Gag>Cag	p.E632Q	CTTNBP2NL_ENST00000607039.1_Intron	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	632					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAAGGATGTTGAGTTACTTTT	0.478																																						uc001ebx.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1894-1896)GAG>CAG		CTTNBP2 N-terminal like							85.0	75.0	78.0					1																	113000008		2203	4300	6503	SO:0001583	missense	55917					actin cytoskeleton	protein binding	g.chr1:113000008G>C	AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.1894G>C	1.37:g.113000008G>C	ENSP00000271277:p.Glu632Gln					CTTNBP2NL_uc001ebz.2_Intron	p.E632Q	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	2122	+		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)	632					B3KMS5|Q96B40	Missense_Mutation	SNP	ENST00000271277.6	37	c.1894G>C	CCDS845.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741247	0.49151	.	.	ENSG00000143079	ENST00000271277	T	0.26810	1.71	5.78	5.78	0.91487	.	0.092488	0.64402	D	0.000001	T	0.17280	0.0415	L	0.29908	0.895	0.58432	D	0.999991	P	0.34562	0.457	B	0.38985	0.287	T	0.04128	-1.0975	10	0.72032	D	0.01	-16.0115	19.6116	0.95608	0.0:0.0:1.0:0.0	.	632	Q9P2B4	CT2NL_HUMAN	Q	632	ENSP00000271277:E632Q	ENSP00000271277:E632Q	E	+	1	0	CTTNBP2NL	112801531	1.000000	0.71417	0.813000	0.32504	0.822000	0.46500	8.001000	0.88508	2.740000	0.93945	0.455000	0.32223	GAG		0.478	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704		47	61	0	0	0	0	47	61				
HIPK1	204851	broad.mit.edu	37	1	114483834	114483834	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:114483834G>C	ENST00000369558.1	+	2	1061	c.829G>C	c.(829-831)Gat>Cat	p.D277H	HIPK1_ENST00000369561.4_Missense_Mutation_p.D277H|HIPK1_ENST00000426820.2_Missense_Mutation_p.D277H|HIPK1_ENST00000369555.2_Missense_Mutation_p.D277H|HIPK1_ENST00000369559.4_Missense_Mutation_p.D277H|HIPK1_ENST00000369554.2_Missense_Mutation_p.D277H			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	277	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAACTTATATGATTTTCTAAA	0.408																																						uc001eem.2		NA																	0				ovary(4)	4						c.(829-831)GAT>CAT		homeodomain-interacting protein kinase 1 isoform							79.0	78.0	79.0					1																	114483834		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114483834G>C	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.829G>C	1.37:g.114483834G>C	ENSP00000358571:p.Asp277His					HIPK1_uc001eel.2_Missense_Mutation_p.D277H|HIPK1_uc001een.2_Missense_Mutation_p.D277H	p.D277H	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	990	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	277			Protein kinase.		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.829G>C	CCDS867.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331201	0.81690	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561	T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.81	5.81	0.92471	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.32585	0.0834	N	0.25201	0.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.21348	-1.0248	10	0.87932	D	0	.	20.089	0.97809	0.0:0.0:1.0:0.0	.	277;277	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	H	348;277;277;277;277;277;277	ENSP00000407442:D348H;ENSP00000358572:D277H;ENSP00000409673:D277H;ENSP00000358567:D277H;ENSP00000358568:D277H;ENSP00000358571:D277H;ENSP00000358574:D277H	ENSP00000358567:D277H	D	+	1	0	HIPK1	114285357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.807000	0.99171	2.752000	0.94435	0.557000	0.71058	GAT		0.408	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		33	61	0	0	0	0	33	61				
WARS2	10352	broad.mit.edu	37	1	119619152	119619152	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:119619152C>G	ENST00000235521.4	-	2	195	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	WARS2_ENST00000369426.5_Missense_Mutation_p.E57Q|WARS2_ENST00000537870.1_5'UTR	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	57					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	ACCCAGCTCTCAATGGCTCCC	0.483																																						uc001ehn.2		NA																	0					0						c.(169-171)GAG>CAG		mitochondrial tryptophanyl tRNA synthetase 2	L-Tryptophan(DB00150)						153.0	162.0	159.0					1																	119619152		2203	4300	6503	SO:0001583	missense	10352				tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	g.chr1:119619152C>G	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.169G>C	1.37:g.119619152C>G	ENSP00000235521:p.Glu57Gln					WARS2_uc010oxf.1_5'UTR|WARS2_uc001ehm.2_Missense_Mutation_p.E57Q|WARS2_uc010oxg.1_Missense_Mutation_p.E57Q|WARS2_uc010oxh.1_Missense_Mutation_p.E57Q|WARS2_uc010oxi.1_5'UTR	p.E57Q	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN		Lung(183;0.0629)	2	197	-	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)	57					B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	ENST00000235521.4	37	c.169G>C	CCDS900.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.682184	0.29872	.	.	ENSG00000116874	ENST00000369426;ENST00000235521	T;T	0.28895	1.59;1.59	5.78	5.78	0.91487	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.154798	0.64402	D	0.000020	T	0.07324	0.0185	N	0.05124	-0.11	0.80722	D	1	P;B;B;B	0.34934	0.476;0.0;0.025;0.364	B;B;B;B	0.33196	0.159;0.002;0.03;0.113	T	0.07790	-1.0754	10	0.44086	T	0.13	-44.0144	9.0329	0.36269	0.0:0.7609:0.1605:0.0787	.	57;57;57;57	B7Z448;B7Z6G7;Q9UGM6;B1ALR1	.;.;SYWM_HUMAN;.	Q	57	ENSP00000358434:E57Q;ENSP00000235521:E57Q	ENSP00000235521:E57Q	E	-	1	0	WARS2	119420675	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.814000	0.55643	2.894000	0.99253	0.591000	0.81541	GAG		0.483	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		64	145	0	0	0	0	64	145				
PDE4DIP	9659	broad.mit.edu	37	1	144882644	144882644	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:144882644C>G	ENST00000369354.3	-	24	3564	c.3375G>C	c.(3373-3375)ctG>ctC	p.L1125L	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Silent_p.L1262L|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369359.4_Silent_p.L1262L|PDE4DIP_ENST00000369356.4_Silent_p.L1125L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1125					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTTGCTACTCAGCACAAGTT	0.463			T	PDGFRB	MPD																																	uc001elw.3		NA		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(3373-3375)CTG>CTC		phosphodiesterase 4D interacting protein isoform							254.0	246.0	249.0					1																	144882644		2203	4296	6499	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144882644C>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3375G>C	1.37:g.144882644C>G						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Silent_p.L132L	p.L1125L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	24	3666	-			1125					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.3375G>C	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	1.447	-0.565940	0.03910	.	.	ENSG00000178104	ENST00000530592	.	.	.	5.47	3.59	0.41128	.	.	.	.	.	T	0.45816	0.1361	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41980	-0.9478	4	.	.	.	.	9.1483	0.36946	0.0:0.772:0.1477:0.0802	.	.	.	.	Q	20	.	.	E	-	1	0	PDE4DIP	143594001	0.991000	0.36638	0.998000	0.56505	0.237000	0.25408	0.462000	0.21956	0.867000	0.35654	0.655000	0.94253	GAG		0.463	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		27	372	0	0	0	0	27	372				
SEC22B	9554	broad.mit.edu	37	1	145109554	145109554	+	RNA	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:145109554G>C	ENST00000453618.1	+	0	543							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											TGTGTGATTTGGTTTTATGTG	0.413																																						uc001eml.1		NA																	0					0						c.(214-216)TTG>TTC		SEC22 vesicle trafficking protein homolog B							378.0	365.0	369.0					1																	145109554		2037	4194	6231			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109554G>C	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109554G>C						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron	p.L72F	NM_004892	NP_004883	O75396	SC22B_HUMAN			5	356	+			72			Longin.|Cytoplasmic (Potential).		A8K1G0	Missense_Mutation	SNP	ENST00000453618.1	37	c.216G>C																																																																																					0.413	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		17	604	0	0	0	0	17	604				
CHD1L	9557	broad.mit.edu	37	1	146763163	146763163	+	Splice_Site	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:146763163G>C	ENST00000369258.4	+	20	2340		c.e20-1		CHD1L_ENST00000467213.1_Splice_Site|CHD1L_ENST00000431239.1_Splice_Site|CHD1L_ENST00000369259.3_Splice_Site|CHD1L_ENST00000361293.5_Splice_Site	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like						ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TTTTACCTCAGACCTGAGTTT	0.398																																						uc001epm.3		NA																	0				ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6						c.e20-1		chromodomain helicase DNA binding protein							206.0	169.0	182.0					1																	146763163		2203	4300	6503	SO:0001630	splice_region_variant	9557				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr1:146763163G>C	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.2321-1G>C	1.37:g.146763163G>C						uc001epp.2_Intron|CHD1L_uc001epn.3_Splice_Site_p.D661_splice|CHD1L_uc010ozo.1_Splice_Site|CHD1L_uc009wjg.2_Splice_Site|CHD1L_uc009wjh.2_Splice_Site_p.D680_splice|CHD1L_uc010ozp.1_Splice_Site_p.D493_splice|CHD1L_uc001epo.3_Splice_Site_p.D570_splice|CHD1L_uc009wji.2_Splice_Site_p.D493_splice	p.D774_splice	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN			20	2384	+	all_hematologic(923;0.0487)							A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Splice_Site	SNP	ENST00000369258.4	37	c.2321_splice	CCDS927.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592458	0.66219	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000361293	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6042	0.76649	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHD1L	145229787	1.000000	0.71417	0.995000	0.50966	0.671000	0.39405	7.377000	0.79668	2.755000	0.94549	0.555000	0.69702	.		0.398	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284	Intron	16	102	0	0	0	0	16	102				
HIST2H2BE	8349	broad.mit.edu	37	1	149857978	149857978	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:149857978G>C	ENST00000369155.2	-	1	254	c.213C>G	c.(211-213)ttC>ttG	p.F71L	BOLA1_ENST00000369153.2_5'Flank|HIST2H2AC_ENST00000331380.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	71					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F71L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGATGCGCTCGAAGATGTCGT	0.622																																						uc001etc.2		NA																	1	Substitution - Missense(1)		breast(1)	ovary(1)	1						c.(211-213)TTC>TTG		histone cluster 2, H2be							132.0	121.0	125.0					1																	149857978		2203	4297	6500	SO:0001583	missense	8349				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr1:149857978G>C	AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"""Histones / Replication-dependent"""	4760	protein-coding gene	gene with protein product		601831	"""H2B histone family, member Q"", ""histone 2, H2be"""	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.213C>G	1.37:g.149857978G>C	ENSP00000358151:p.Phe71Leu					HIST2H2AC_uc001etd.2_5'Flank	p.F71L	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	255	-	Breast(34;0.0124)|all_hematologic(923;0.127)		71					A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Missense_Mutation	SNP	ENST00000369155.2	37	c.213C>G	CCDS936.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452078	0.63290	.	.	ENSG00000184678	ENST00000369155	T	0.63744	-0.06	5.89	2.98	0.34508	Histone-fold (2);Histone core (1);	0.000000	0.85682	D	0.000000	T	0.59101	0.2169	M	0.86268	2.805	0.30270	N	0.792314	P	0.44044	0.825	P	0.49752	0.621	T	0.59716	-0.7402	10	0.66056	D	0.02	.	8.9737	0.35921	0.2917:0.0:0.7083:0.0	.	71	Q16778	H2B2E_HUMAN	L	71	ENSP00000358151:F71L	ENSP00000358151:F71L	F	-	3	2	HIST2H2BE	148124602	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.842000	0.48230	0.389000	0.25086	0.586000	0.80456	TTC		0.622	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033455.1	NM_003528		83	168	0	0	0	0	83	168				
HIST2H2AB	317772	broad.mit.edu	37	1	149859411	149859411	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:149859411G>T	ENST00000331128.3	-	1	55	c.56C>A	c.(55-57)tCg>tAg	p.S19*	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	19						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AGCGCGGGACGAGCGCGACTT	0.622																																						uc001ete.2		NA																	0				ovary(1)|breast(1)	2						c.(55-57)TCG>TAG		histone cluster 2, H2ab							55.0	62.0	60.0					1																	149859411		2202	4296	6498	SO:0001587	stop_gained	317772				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149859411G>T	AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"""Histones / Replication-dependent"""	20508	protein-coding gene	gene with protein product		615014	"""histone 2, H2ab"""			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.56C>A	1.37:g.149859411G>T	ENSP00000332790:p.Ser19*					HIST2H2BE_uc001etc.2_5'Flank	p.S19*	NM_175065	NP_778235	Q8IUE6	H2A2B_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	56	-	Breast(34;0.0124)|all_hematologic(923;0.127)		19						Nonsense_Mutation	SNP	ENST00000331128.3	37	c.56C>A	CCDS938.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905842	0.92107	.	.	ENSG00000184270	ENST00000331128	.	.	.	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7467	0.69494	0.0:0.0:1.0:0.0	.	.	.	.	X	19	.	ENSP00000332790:S19X	S	-	2	0	HIST2H2AB	148126035	1.000000	0.71417	0.919000	0.36401	0.968000	0.65278	5.537000	0.67186	2.621000	0.88768	0.655000	0.94253	TCG		0.622	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1	NM_175065		58	125	1	0	3.31e-30	3.56e-30	58	125				
PLEKHO1	51177	broad.mit.edu	37	1	150131448	150131448	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:150131448G>A	ENST00000369124.4	+	6	1238	c.960G>A	c.(958-960)caG>caA	p.Q320Q	PLEKHO1_ENST00000369126.1_Silent_p.Q137Q|PLEKHO1_ENST00000025469.6_Silent_p.Q286Q	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	320	Negative regulator of AP-1 activity.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGAGACTCAGGAGCTTCTGG	0.647																																						uc001ett.2		NA																	0				lung(1)	1						c.(958-960)CAG>CAA		pleckstrin homology domain containing, family O							46.0	52.0	50.0					1																	150131448		2203	4300	6503	SO:0001819	synonymous_variant	51177					cytoplasm|nucleus|plasma membrane		g.chr1:150131448G>A	AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"""Pleckstrin homology (PH) domain containing"""	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.960G>A	1.37:g.150131448G>A						PLEKHO1_uc001etr.2_Silent_p.Q148Q|PLEKHO1_uc001ets.2_Silent_p.Q137Q|PLEKHO1_uc001etu.2_Silent_p.Q148Q	p.Q320Q	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	1238	+	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		320			Negative regulator of AP-1 activity.		Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Silent	SNP	ENST00000369124.4	37	c.960G>A	CCDS945.1																																																																																				0.647	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1	NM_016274		4	117	0	0	0	0	4	117				
CIART	148523	broad.mit.edu	37	1	150259239	150259239	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:150259239C>T	ENST00000290363.5	+	5	1480	c.1031C>T	c.(1030-1032)tCa>tTa	p.S344L	C1orf51_ENST00000369094.1_Missense_Mutation_p.S256L|C1orf51_ENST00000369095.1_Missense_Mutation_p.S344L	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		344					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTCTGCCATCAGACTGGAGC	0.542																																						uc001euh.2		NA																	0					0						c.(1030-1032)TCA>TTA		hypothetical protein LOC148523							143.0	127.0	132.0					1																	150259239		2203	4300	6503	SO:0001583	missense	148523							g.chr1:150259239C>T																												ENST00000290363.5:c.1031C>T	1.37:g.150259239C>T	ENSP00000290363:p.Ser344Leu					C1orf51_uc001eui.2_Missense_Mutation_p.S256L|C1orf51_uc001euj.2_Missense_Mutation_p.S344L	p.S344L	NM_144697	NP_653298	Q8N365	CA051_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	1167	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		344					B2RD43|D3DV01|Q8N795|Q96MG6	Missense_Mutation	SNP	ENST00000290363.5	37	c.1031C>T	CCDS949.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547426	0.65311	.	.	ENSG00000159208	ENST00000369095;ENST00000369094;ENST00000290363	.	.	.	5.27	3.4	0.38934	.	0.458211	0.19630	N	0.109695	T	0.23451	0.0567	L	0.57536	1.79	0.31867	N	0.620273	B	0.13594	0.008	B	0.13407	0.009	T	0.06481	-1.0824	8	.	.	.	-7.3298	4.539	0.12047	0.1764:0.6434:0.0:0.1801	.	344	Q8N365	CA051_HUMAN	L	344;256;344	.	.	S	+	2	0	C1orf51	148525863	0.005000	0.15991	0.999000	0.59377	0.768000	0.43524	0.685000	0.25378	0.798000	0.33994	0.561000	0.74099	TCA		0.542	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1			56	117	0	0	0	0	56	117				
POGZ	23126	broad.mit.edu	37	1	151377284	151377284	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:151377284C>G	ENST00000271715.2	-	19	4541	c.4227G>C	c.(4225-4227)gaG>gaC	p.E1409D	POGZ_ENST00000540984.1_Missense_Mutation_p.E771D|POGZ_ENST00000409503.1_Missense_Mutation_p.E1400D|POGZ_ENST00000392723.1_Missense_Mutation_p.E1356D|POGZ_ENST00000491586.1_Missense_Mutation_p.E1365D|POGZ_ENST00000361398.3_Missense_Mutation_p.E1356D|POGZ_ENST00000368863.2_Missense_Mutation_p.E1314D|POGZ_ENST00000531094.1_Missense_Mutation_p.E1347D	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1409					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACACTCAAATCTCCATCAGAT	0.507											OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001eyd.1		NA																	0				ovary(3)	3						c.(4225-4227)GAG>GAC		pogo transposable element with ZNF domain							80.0	81.0	81.0					1																	151377284		2203	4300	6503	SO:0001583	missense	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151377284C>G	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.4227G>C	1.37:g.151377284C>G	ENSP00000271715:p.Glu1409Asp		OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1739	POGZ_uc001eye.1_Missense_Mutation_p.E1356D|POGZ_uc010pdb.1_Missense_Mutation_p.E1400D|POGZ_uc001eyf.1_Missense_Mutation_p.E1365D|POGZ_uc010pdc.1_Missense_Mutation_p.E1347D|POGZ_uc009wmv.1_Missense_Mutation_p.E1314D|POGZ_uc010pdd.1_Missense_Mutation_p.E900D	p.E1409D	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		19	4533	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1409					B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	c.4227G>C	CCDS997.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631002	0.28978	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.25912	5.72;5.74;5.72;5.69;5.73;5.73;1.77;5.21	5.46	2.42	0.29668	.	0.000000	0.56097	D	0.000021	T	0.04318	0.0119	N	0.14661	0.345	0.26108	N	0.980725	B;B;B;B;B;B	0.26635	0.155;0.155;0.004;0.004;0.004;0.155	B;B;B;B;B;B	0.24006	0.05;0.05;0.009;0.009;0.009;0.05	T	0.31752	-0.9932	10	0.36615	T	0.2	-20.0509	5.8631	0.18760	0.0:0.6418:0.0:0.3582	.	1347;1400;1314;1365;1356;1409	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	D	1356;1409;1356;1314;1400;1347;771;1365	ENSP00000376484:E1356D;ENSP00000271715:E1409D;ENSP00000354467:E1356D;ENSP00000357856:E1314D;ENSP00000386836:E1400D;ENSP00000431259:E1347D;ENSP00000443547:E771D;ENSP00000418408:E1365D	ENSP00000271715:E1409D	E	-	3	2	POGZ	149643908	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.518000	0.22847	0.872000	0.35775	0.655000	0.94253	GAG		0.507	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		34	73	0	0	0	0	34	73				
CGN	57530	broad.mit.edu	37	1	151491282	151491282	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:151491282C>G	ENST00000271636.7	+	2	420	c.287C>G	c.(286-288)tCa>tGa	p.S96*		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	90	Head.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCTCTGAGCTCAGATTTGGAA	0.577																																						uc009wmw.2		NA																	0				ovary(2)|pancreas(1)	3						c.(286-288)TCA>TGA		cingulin							37.0	42.0	40.0					1																	151491282		2203	4300	6503	SO:0001587	stop_gained	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151491282C>G	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.287C>G	1.37:g.151491282C>G	ENSP00000271636:p.Ser96*						p.S96*	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	431	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		90			Head.		A6H8L3|A7MD22|Q5T386|Q9NR25	Nonsense_Mutation	SNP	ENST00000271636.7	37	c.287C>G	CCDS999.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483968	0.63962	.	.	ENSG00000143375	ENST00000505188;ENST00000502442;ENST00000427934;ENST00000271636	.	.	.	5.06	5.06	0.68205	.	0.165039	0.33610	U	0.004727	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-1.3281	17.5427	0.87852	0.0:1.0:0.0:0.0	.	.	.	.	X	96	.	ENSP00000271636:S96X	S	+	2	0	CGN	149757906	0.916000	0.31088	0.764000	0.31436	0.303000	0.27691	2.090000	0.41682	2.808000	0.96608	0.655000	0.94253	TCA		0.577	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		26	53	0	0	0	0	26	53				
FLG	2312	broad.mit.edu	37	1	152281432	152281432	+	Nonsense_Mutation	SNP	G	G	C	rs140980397		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:152281432G>C	ENST00000368799.1	-	3	5965	c.5930C>G	c.(5929-5931)tCa>tGa	p.S1977*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1977	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGAGTGCCTGATTGTCTGGA	0.572									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5929-5931)TCA>TGA		filaggrin		G	stop/SER	0,4406		0,0,2203	469.0	390.0	417.0		5930	2.0	0.0	1	dbSNP_134	417	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	FLG	NM_002016.1		0,1,6502	CC,CG,GG		0.0116,0.0,0.0077		1977/4062	152281432	1,13005	2203	4300	6503	SO:0001587	stop_gained	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281432G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5930C>G	1.37:g.152281432G>C	ENSP00000357789:p.Ser1977*						p.S1977*	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5966	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1977			Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.5930C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	43	9.913047	0.99294	0.0	1.16E-4	ENSG00000143631	ENST00000368799	.	.	.	2.95	1.96	0.26148	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-0.8111	6.9198	0.24380	0.0:0.0:0.7251:0.2749	.	.	.	.	X	1977	.	ENSP00000357789:S1977X	S	-	2	0	FLG	150548056	0.006000	0.16342	0.001000	0.08648	0.004000	0.04260	2.486000	0.45259	0.510000	0.28216	0.461000	0.40582	TCA		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		277	515	0	0	0	0	277	515				
FLG	2312	broad.mit.edu	37	1	152281579	152281579	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:152281579G>A	ENST00000368799.1	-	3	5818	c.5783C>T	c.(5782-5784)tCa>tTa	p.S1928L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1928	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGTCTTCTGAGTGTCCCTG	0.567									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5782-5784)TCA>TTA		filaggrin							218.0	217.0	217.0					1																	152281579		2203	4297	6500	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281579G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5783C>T	1.37:g.152281579G>A	ENSP00000357789:p.Ser1928Leu						p.S1928L	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5819	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1928			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5783C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254948	0.22965	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.03745	3.82	3.57	3.57	0.40892	.	.	.	.	.	T	0.06690	0.0171	M	0.73598	2.24	0.09310	N	1	D	0.69078	0.997	P	0.57911	0.829	T	0.08493	-1.0719	9	0.72032	D	0.01	.	10.8931	0.47006	0.0:0.0:1.0:0.0	.	1928	P20930	FILA_HUMAN	L	1928;163	ENSP00000357789:S1928L	ENSP00000271820:S163L	S	-	2	0	FLG	150548203	0.000000	0.05858	0.004000	0.12327	0.168000	0.22595	0.284000	0.18864	1.996000	0.58369	0.586000	0.80456	TCA		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		197	355	0	0	0	0	197	355				
FLG	2312	broad.mit.edu	37	1	152286936	152286936	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:152286936C>G	ENST00000368799.1	-	3	461	c.426G>C	c.(424-426)aaG>aaC	p.K142N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	142					establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTTGGGCTCTTGGATCTTC	0.348									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(424-426)AAG>AAC		filaggrin							176.0	190.0	185.0					1																	152286936		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152286936C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.426G>C	1.37:g.152286936C>G	ENSP00000357789:p.Lys142Asn					uc001ezv.2_Intron	p.K142N	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	462	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		142					Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.426G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638567	0.29157	.	.	ENSG00000143631	ENST00000368799	T	0.00691	5.84	5.09	-4.73	0.03259	.	.	.	.	.	T	0.00144	0.0004	N	0.11560	0.145	0.09310	N	1	B	0.26081	0.141	B	0.20184	0.028	T	0.24941	-1.0146	9	0.23891	T	0.37	-3.2334	6.4765	0.22039	0.0:0.2215:0.3689:0.4096	.	142	P20930	FILA_HUMAN	N	142	ENSP00000357789:K142N	ENSP00000357789:K142N	K	-	3	2	FLG	150553560	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.153000	0.00284	-0.848000	0.04163	0.585000	0.79938	AAG		0.348	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		88	208	0	0	0	0	88	208				
FLG	2312	broad.mit.edu	37	1	152286973	152286973	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:152286973C>G	ENST00000368799.1	-	3	424	c.389G>C	c.(388-390)aGa>aCa	p.R130T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	130					establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTGTTTCTTCTTTCCAGACT	0.373									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(388-390)AGA>ACA		filaggrin							172.0	183.0	179.0					1																	152286973		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152286973C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.389G>C	1.37:g.152286973C>G	ENSP00000357789:p.Arg130Thr					uc001ezv.2_Intron	p.R130T	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	425	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		130					Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.389G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	2.321	-0.355657	0.05138	.	.	ENSG00000143631	ENST00000368799	T	0.00649	5.98	2.91	-2.16	0.07080	.	.	.	.	.	T	0.00144	0.0004	N	0.24115	0.695	0.09310	N	1	B	0.21606	0.058	B	0.20767	0.031	T	0.19778	-1.0295	9	0.15499	T	0.54	.	3.5364	0.07795	0.0:0.2921:0.2115:0.4963	.	130	P20930	FILA_HUMAN	T	130	ENSP00000357789:R130T	ENSP00000357789:R130T	R	-	2	0	FLG	150553597	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.401000	0.20948	-0.318000	0.08665	-0.224000	0.12420	AGA		0.373	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		84	198	0	0	0	0	84	198				
UBAP2L	9898	broad.mit.edu	37	1	154197669	154197669	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:154197669C>T	ENST00000361546.2	+	1	112	c.70C>T	c.(70-72)Cag>Tag	p.Q24*	UBAP2L_ENST00000343815.6_Nonsense_Mutation_p.Q24*|UBAP2L_ENST00000271877.7_Nonsense_Mutation_p.Q24*|UBAP2L_ENST00000428931.1_Nonsense_Mutation_p.Q24*			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	24					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAACCAGACACAGCACAAGCA	0.453																																						uc001fep.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(70-72)CAG>TAG		ubiquitin associated protein 2-like isoform a							138.0	114.0	122.0					1																	154197669		2203	4300	6503	SO:0001587	stop_gained	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154197669C>T	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.70C>T	1.37:g.154197669C>T	ENSP00000355343:p.Gln24*					UBAP2L_uc009wot.2_Nonsense_Mutation_p.Q24*|UBAP2L_uc010pek.1_Nonsense_Mutation_p.Q23*|UBAP2L_uc010pel.1_Nonsense_Mutation_p.Q23*|UBAP2L_uc001fen.1_Nonsense_Mutation_p.Q23*|UBAP2L_uc010pem.1_Nonsense_Mutation_p.Q23*	p.Q24*	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	237	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		24					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Nonsense_Mutation	SNP	ENST00000361546.2	37	c.70C>T	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	C	37	6.479826	0.97598	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000441890;ENST00000271877;ENST00000412596;ENST00000368504;ENST00000437652;ENST00000456325;ENST00000361546	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-4.1934	18.2298	0.89931	0.0:1.0:0.0:0.0	.	.	.	.	X	24	.	ENSP00000271877:Q24X	Q	+	1	0	UBAP2L	152464293	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.230000	0.78097	2.785000	0.95823	0.655000	0.94253	CAG		0.453	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		6	66	0	0	0	0	6	66				
UBAP2L	9898	broad.mit.edu	37	1	154223669	154223669	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:154223669C>T	ENST00000361546.2	+	12	1408	c.1366C>T	c.(1366-1368)Ctg>Ttg	p.L456L	UBAP2L_ENST00000343815.6_Silent_p.L456L|UBAP2L_ENST00000271877.7_Silent_p.L467L|UBAP2L_ENST00000428931.1_Silent_p.L456L			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	456					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTCTTCTCCTCTGCCAAGCAA	0.547																																						uc001fep.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1366-1368)CTG>TTG		ubiquitin associated protein 2-like isoform a							103.0	102.0	102.0					1																	154223669		2203	4300	6503	SO:0001819	synonymous_variant	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154223669C>T	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1366C>T	1.37:g.154223669C>T						UBAP2L_uc009wot.2_Silent_p.L456L|UBAP2L_uc010pek.1_Silent_p.L448L|UBAP2L_uc010pel.1_Silent_p.L466L|UBAP2L_uc010pen.1_Silent_p.L370L	p.L456L	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		13	1533	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		456					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Silent	SNP	ENST00000361546.2	37	c.1366C>T	CCDS1063.1																																																																																				0.547	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		88	142	0	0	0	0	88	142				
IL6R	3570	broad.mit.edu	37	1	154427027	154427027	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:154427027G>C	ENST00000368485.3	+	9	1567	c.1130G>C	c.(1129-1131)gGa>gCa	p.G377A	IL6R_ENST00000344086.4_Intron|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	377					acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	CTGGCCTTCGGAACGCTCCTC	0.483																																						uc001fez.1		NA																	0				ovary(3)|breast(1)	4						c.(1129-1131)GGA>GCA		interleukin 6 receptor isoform 1 precursor							111.0	97.0	102.0					1																	154427027		2203	4300	6503	SO:0001583	missense	3570				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	g.chr1:154427027G>C	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.1130G>C	1.37:g.154427027G>C	ENSP00000357470:p.Gly377Ala					IL6R_uc001ffa.1_Intron	p.G377A	NM_000565	NP_000556	P08887	IL6RA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		9	1567	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		377			Helical; (Potential).		A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	ENST00000368485.3	37	c.1130G>C	CCDS1067.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.35|16.35	3.098057|3.098057	0.56183|0.56183	.|.	.|.	ENSG00000160712|ENSG00000160712	ENST00000515190|ENST00000368485	.|T	.|0.25085	.|1.82	4.44|4.44	4.44|4.44	0.53790|0.53790	.|.	.|0.888017	.|0.09415	.|N	.|0.805251	T|T	0.19644|0.19644	0.0472|0.0472	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D	.|0.62365	.|0.991	.|P	.|0.53185	.|0.72	T|T	0.21314|0.21314	-1.0249|-1.0249	5|10	.|0.05436	.|T	.|0.98	-20.8596|-20.8596	12.4624|12.4624	0.55738|0.55738	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|377	.|P08887	.|IL6RA_HUMAN	Q|A	180|377	.|ENSP00000357470:G377A	.|ENSP00000357470:G377A	E|G	+|+	1|2	0|0	IL6R|IL6R	152693651|152693651	0.969000|0.969000	0.33509|0.33509	0.168000|0.168000	0.22838|0.22838	0.007000|0.007000	0.05969|0.05969	2.941000|2.941000	0.49011|0.49011	2.309000|2.309000	0.77851|0.77851	0.555000|0.555000	0.69702|0.69702	GAA|GGA		0.483	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565		17	44	0	0	0	0	17	44				
ADAM15	8751	broad.mit.edu	37	1	155034448	155034448	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:155034448G>A	ENST00000356955.2	+	21	2522	c.2421G>A	c.(2419-2421)ccG>ccA	p.P807P	ADAM15_ENST00000360674.4_Intron|ADAM15_ENST00000359280.4_Silent_p.P782P|EFNA4_ENST00000368409.3_5'Flank|EFNA3_ENST00000505139.1_5'Flank|EFNA4_ENST00000427683.2_5'Flank|ADAM15_ENST00000449910.2_Silent_p.P806P|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000271836.6_Intron|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000531455.1_Intron|ADAM15_ENST00000472434.1_3'UTR|EFNA3_ENST00000556931.1_5'Flank|ADAM15_ENST00000355956.2_Intron|EFNA4_ENST00000359751.4_5'Flank|ADAM15_ENST00000368412.3_Intron	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	807					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGAGAAGCCCGAAGGTAACGG	0.677											OREG0013848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001fgr.1		NA																	0				central_nervous_system(3)|skin(2)|ovary(1)	6						c.(2419-2421)CCG>CCA		a disintegrin and metalloproteinase domain 15							62.0	67.0	66.0					1																	155034448		2203	4300	6503	SO:0001819	synonymous_variant	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr1:155034448G>A	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.2421G>A	1.37:g.155034448G>A			OREG0013848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1767	EFNA3_uc010pew.1_5'Flank|ADAM15_uc001fgq.1_Silent_p.P491P|ADAM15_uc001fgt.1_Silent_p.P806P|ADAM15_uc010pev.1_Intron|ADAM15_uc001fgs.1_Intron|ADAM15_uc001fgu.1_Silent_p.P782P|ADAM15_uc001fgw.1_Intron|ADAM15_uc001fgv.1_Intron|ADAM15_uc001fgx.1_Intron|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_Intron|EFNA4_uc001fhc.2_5'Flank|EFNA4_uc001fhd.2_5'Flank|EFNA4_uc001fhe.2_5'Flank	p.P807P	NM_207197	NP_997080	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		21	2522	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		807			Cytoplasmic (Potential).		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Silent	SNP	ENST00000356955.2	37	c.2421G>A	CCDS1087.1																																																																																				0.677	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815		97	141	0	0	0	0	97	141				
CD1C	911	broad.mit.edu	37	1	158262651	158262651	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:158262651C>T	ENST00000368170.3	+	4	1155	c.876C>T	c.(874-876)atC>atT	p.I292I		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	292	Ig-like.				antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GCCAGGACATCATCCTCTACT	0.527																																						uc001fru.2		NA																	0				ovary(2)|skin(1)|pancreas(1)	4						c.(874-876)ATC>ATT		CD1C antigen precursor							72.0	63.0	66.0					1																	158262651		2203	4300	6503	SO:0001819	synonymous_variant	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158262651C>T	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.876C>T	1.37:g.158262651C>T						CD1C_uc001frv.2_Silent_p.I95I	p.I292I	NM_001765	NP_001756	P29017	CD1C_HUMAN			4	1168	+	all_hematologic(112;0.0378)		292			Extracellular (Potential).|Ig-like.		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Silent	SNP	ENST00000368170.3	37	c.876C>T	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	C	0.051	-1.251001	0.01469	.	.	ENSG00000158481	ENST00000443761	.	.	.	3.81	-0.53	0.11898	.	.	.	.	.	T	0.07954	0.0199	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34850	-0.9812	4	.	.	.	.	2.5447	0.04734	0.183:0.3518:0.3573:0.108	.	.	.	.	Y	227	.	.	H	+	1	0	CD1C	156529275	0.003000	0.15002	0.016000	0.15963	0.077000	0.17291	-0.196000	0.09532	0.037000	0.15575	0.650000	0.86243	CAT		0.527	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		12	45	0	0	0	0	12	45				
SPTA1	6708	broad.mit.edu	37	1	158621223	158621223	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:158621223G>C	ENST00000368147.4	-	24	3591	c.3411C>G	c.(3409-3411)atC>atG	p.I1137M		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1137					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTACCTTGTTGATATCCCTTA	0.438																																						uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(3409-3411)ATC>ATG		spectrin, alpha, erythrocytic 1							222.0	218.0	219.0					1																	158621223		1873	4100	5973	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158621223G>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3411C>G	1.37:g.158621223G>C	ENSP00000357129:p.Ile1137Met						p.I1137M	NM_003126	NP_003117	P02549	SPTA1_HUMAN			24	3610	-	all_hematologic(112;0.0378)		1137			Spectrin 11.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3411C>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174830	0.38413	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.56941	0.43;0.43	4.66	2.77	0.32553	.	.	.	.	.	T	0.28499	0.0705	L	0.35723	1.085	0.34510	D	0.706963	B	0.33379	0.41	B	0.41174	0.349	T	0.11299	-1.0593	9	0.36615	T	0.2	.	7.067	0.25157	0.0853:0.0:0.6082:0.3065	.	1137	P02549	SPTA1_HUMAN	M	1137	ENSP00000357130:I1137M;ENSP00000357129:I1137M	ENSP00000357129:I1137M	I	-	3	3	SPTA1	156887847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.985000	0.29578	1.304000	0.44892	0.655000	0.94253	ATC		0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		98	183	0	0	0	0	98	183				
MNDA	4332	broad.mit.edu	37	1	158812162	158812162	+	Silent	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:158812162A>G	ENST00000368141.4	+	2	480	c.219A>G	c.(217-219)ccA>ccG	p.P73P	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	73	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AAGATATGCCATCACTTAAAA	0.373																																						uc001fsz.1		NA																	0				ovary(2)|skin(2)	4						c.(217-219)CCA>CCG		myeloid cell nuclear differentiation antigen							111.0	119.0	116.0					1																	158812162		2201	4300	6501	SO:0001819	synonymous_variant	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158812162A>G	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.219A>G	1.37:g.158812162A>G							p.P73P	NM_002432	NP_002423	P41218	MNDA_HUMAN			2	419	+	all_hematologic(112;0.0378)		73			DAPIN.			Silent	SNP	ENST00000368141.4	37	c.219A>G	CCDS1177.1																																																																																				0.373	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		50	112	0	0	0	0	50	112				
ATP1A2	477	broad.mit.edu	37	1	160106385	160106385	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:160106385C>G	ENST00000361216.3	+	19	2678	c.2589C>G	c.(2587-2589)ttC>ttG	p.F863L	ATP1A2_ENST00000392233.3_Missense_Mutation_p.F863L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	863					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGGGTGGCTTCTTCACCTACT	0.602																																						uc001fvc.2		NA																	0				central_nervous_system(3)|ovary(2)|skin(2)	7						c.(2587-2589)TTC>TTG		Na+/K+ -ATPase alpha 2 subunit proprotein							118.0	102.0	107.0					1																	160106385		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160106385C>G	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2589C>G	1.37:g.160106385C>G	ENSP00000354490:p.Phe863Leu					ATP1A2_uc001fvb.2_Missense_Mutation_p.F863L|ATP1A2_uc001fvd.2_Intron	p.F863L	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		19	2721	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		863			Helical; (Potential).		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.2589C>G	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738084	0.69304	.	.	ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866	D;D	0.94828	-3.53;-3.53	4.71	2.84	0.33178	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95490	0.8535	M	0.90705	3.14	0.58432	D	0.999997	P	0.48503	0.911	P	0.55345	0.774	D	0.95163	0.8283	10	0.62326	D	0.03	.	8.8657	0.35284	0.0:0.8117:0.0:0.1883	.	863	P50993	AT1A2_HUMAN	L	863;863;566	ENSP00000354490:F863L;ENSP00000376066:F863L	ENSP00000354490:F863L	F	+	3	2	ATP1A2	158373009	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.139000	0.31504	1.335000	0.45486	0.561000	0.74099	TTC		0.602	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		25	111	0	0	0	0	25	111				
FCGR3A	2214	broad.mit.edu	37	1	161512965	161512965	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:161512965G>A	ENST00000436743.1	-	6	756	c.602C>T	c.(601-603)tCa>tTa	p.S201L	FCGR3A_ENST00000476031.1_5'Flank|FCGR3A_ENST00000367969.3_Missense_Mutation_p.S237L|FCGR3A_ENST00000443193.1_Missense_Mutation_p.S236L|FCGR3A_ENST00000540048.1_Missense_Mutation_p.S201L|RP11-25K21.6_ENST00000537821.2_RNA	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	201					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGGAAAGAATGATGAGATGGT	0.423																																						uc001gat.3		NA																	0				ovary(1)	1						c.(601-603)TCA>TTA		Fc fragment of IgG, low affinity IIIa, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						118.0	119.0	119.0					1																	161512965		2203	4300	6503	SO:0001583	missense	2214				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161512965G>A	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.602C>T	1.37:g.161512965G>A	ENSP00000416607:p.Ser201Leu					FCGR3A_uc001gar.2_Missense_Mutation_p.S237L|FCGR3A_uc001gas.2_Missense_Mutation_p.S236L|FCGR3A_uc009wuh.2_Missense_Mutation_p.S200L|FCGR3A_uc009wui.2_Missense_Mutation_p.S201L	p.S201L	NM_001127595	NP_001121067	P08637	FCG3A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		6	739	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		201			Extracellular (Potential).		A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000436743.1	37	c.602C>T	CCDS44266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.300|8.300	0.819638|0.819638	0.16607|0.16607	.|.	.|.	ENSG00000203747|ENSG00000203747	ENST00000426740|ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048	.|T;T;T;T;T	.|0.01548	.|4.78;4.78;4.83;4.83;4.83	3.44|3.44	2.52|2.52	0.30459|0.30459	.|.	.|2.519990	.|0.01536	.|N	.|0.019019	T|T	0.00724|0.00724	0.0024|0.0024	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.15473	.|0.003;0.013;0.001	.|B;B;B	.|0.10450	.|0.003;0.005;0.003	T|T	0.45411|0.45411	-0.9263|-0.9263	5|10	.|0.48119	.|T	.|0.1	.|.	6.6876|6.6876	0.23154|0.23154	0.1363:0.0:0.8637:0.0|0.1363:0.0:0.8637:0.0	.|.	.|201;236;201	.|P08637;E9PG94;Q9UPY7	.|FCG3A_HUMAN;.;.	Y|L	218|237;236;201;201;201	.|ENSP00000356946:S237L;ENSP00000392047:S236L;ENSP00000416607:S201L;ENSP00000356944:S201L;ENSP00000444971:S201L	.|ENSP00000356944:S201L	H|S	-|-	1|2	0|0	FCGR3A|FCGR3A	159779589|159779589	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.004000|0.004000	0.04260|0.04260	-0.732000|-0.732000	0.04904|0.04904	0.782000|0.782000	0.33613|0.33613	0.591000|0.591000	0.81541|0.81541	CAT|TCA		0.423	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569		42	72	0	0	0	0	42	72				
DCAF6	55827	broad.mit.edu	37	1	168014243	168014243	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:168014243C>G	ENST00000312263.6	+	14	2009	c.1805C>G	c.(1804-1806)tCt>tGt	p.S602C	DCAF6_ENST00000432587.2_Missense_Mutation_p.S648C|DCAF6_ENST00000367840.3_Missense_Mutation_p.S679C|DCAF6_ENST00000367843.3_Missense_Mutation_p.S622C	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	602					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TCTGCTTCATCTGAAAAAGCC	0.443																																						uc001gew.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1804-1806)TCT>TGT		IQ motif and WD repeats 1 isoform b							92.0	97.0	95.0					1																	168014243		2203	4300	6503	SO:0001583	missense	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:168014243C>G	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1805C>G	1.37:g.168014243C>G	ENSP00000311949:p.Ser602Cys					DCAF6_uc001gev.2_Missense_Mutation_p.S622C|DCAF6_uc001gex.2_Missense_Mutation_p.S679C|DCAF6_uc010plk.1_Missense_Mutation_p.S648C|DCAF6_uc001gey.2_Missense_Mutation_p.S475C|DCAF6_uc001gez.2_Translation_Start_Site	p.S602C	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN			14	2047	+			602					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	c.1805C>G	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	C	9.029	0.986928	0.18889	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.31	2.13	0.27403	WD40 repeat-like-containing domain (1);	1.213670	0.05574	N	0.571542	T	0.11965	0.0291	N	0.14661	0.345	0.24942	N	0.991842	P;B;B;B	0.52463	0.953;0.016;0.002;0.002	B;B;B;B	0.43754	0.43;0.007;0.002;0.004	T	0.05750	-1.0866	9	0.56958	D	0.05	.	7.7754	0.29035	0.2473:0.3587:0.394:0.0	.	648;679;602;622	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	C	622;648;602;679	ENSP00000356817:S622C;ENSP00000396238:S648C;ENSP00000311949:S602C;ENSP00000356814:S679C	ENSP00000311949:S602C	S	+	2	0	DCAF6	166280867	0.836000	0.29430	0.782000	0.31804	0.502000	0.33828	1.307000	0.33516	1.201000	0.43203	0.467000	0.42956	TCT		0.443	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		24	168	0	0	0	0	24	168				
GPR161	23432	broad.mit.edu	37	1	168065809	168065809	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:168065809G>A	ENST00000367838.1	-	5	1349	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W	GPR161_ENST00000539777.1_Missense_Mutation_p.R268W|GPR161_ENST00000367835.1_Missense_Mutation_p.R346W|GPR161_ENST00000361697.2_Missense_Mutation_p.R346W|GPR161_ENST00000546300.1_Missense_Mutation_p.R232W|GPR161_ENST00000367836.1_Missense_Mutation_p.R214W|GPR161_ENST00000537209.1_Missense_Mutation_p.R366W|GPR161_ENST00000271357.5_Missense_Mutation_p.R346W	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	346					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					AATGGTTCCCGATAATACCGG	0.527																																						uc001gfc.2		NA																	0					0						c.(1036-1038)CGG>TGG		G protein-coupled receptor 161 isoform 2							88.0	86.0	87.0					1																	168065809		2203	4300	6503	SO:0001583	missense	23432				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:168065809G>A	AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.1036C>T	1.37:g.168065809G>A	ENSP00000356812:p.Arg346Trp					GPR161_uc001gfb.2_Missense_Mutation_p.R214W|GPR161_uc010pll.1_Missense_Mutation_p.R256W|GPR161_uc010plm.1_Missense_Mutation_p.R232W|GPR161_uc009wvo.2_Missense_Mutation_p.R363W|GPR161_uc001gfd.2_Missense_Mutation_p.R346W|GPR161_uc010pln.1_Missense_Mutation_p.R366W|GPR161_uc001gfe.1_Missense_Mutation_p.R346W	p.R346W	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN			5	1350	-	all_hematologic(923;0.215)		346			Cytoplasmic (Potential).		B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	ENST00000367838.1	37	c.1036C>T	CCDS1268.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952008	0.53293	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.61	2.62	0.31277	.	0.053503	0.64402	D	0.000001	T	0.41604	0.1166	M	0.63843	1.955	0.44366	D	0.997262	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.989;0.998;0.999;0.987;0.973;0.976	T	0.45145	-0.9281	9	0.87932	D	0	-24.6889	4.7471	0.13042	0.0705:0.1248:0.4221:0.3827	.	366;232;268;366;346;346	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;.;.;GP161_HUMAN	W	346;346;214;346;232;268;366;346	ENSP00000356812:R346W;ENSP00000271357:R346W;ENSP00000356810:R214W;ENSP00000356809:R346W;ENSP00000444348:R232W;ENSP00000437576:R268W;ENSP00000441039:R366W;ENSP00000355194:R346W	ENSP00000271357:R346W	R	-	1	2	GPR161	166332433	1.000000	0.71417	0.997000	0.53966	0.556000	0.35491	3.239000	0.51360	0.361000	0.24292	0.655000	0.94253	CGG		0.527	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369		44	66	0	0	0	0	44	66				
TIPRL	261726	broad.mit.edu	37	1	168160697	168160697	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:168160697G>A	ENST00000367833.2	+	4	620	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	TIPRL_ENST00000367830.3_Missense_Mutation_p.E159K	NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TOR signaling pathway regulator	159					DNA damage checkpoint (GO:0000077)|negative regulation of protein phosphatase type 2A activity (GO:0034048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					TTTTGAGGATGAACTTCATGA	0.299																																						uc001gfg.2		NA																	0				ovary(1)	1						c.(475-477)GAA>AAA		TIP41, TOR signalling pathway regulator-like							62.0	70.0	67.0					1																	168160697		2203	4300	6503	SO:0001583	missense	261726				DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding	g.chr1:168160697G>A	AB097034	CCDS1270.1, CCDS30935.1	1q23.2	2014-03-07	2014-03-07		ENSG00000143155	ENSG00000143155			30231	protein-coding gene	gene with protein product		611807	"""TIP41, TOR signaling pathway regulator-like (S. cerevisiae)"""			12761501	Standard	NM_001031800		Approved	MGC3794, dJ69E11.3, TIP41	uc001gfg.3	O75663	OTTHUMG00000034646	ENST00000367833.2:c.475G>A	1.37:g.168160697G>A	ENSP00000356807:p.Glu159Lys					TIPRL_uc001gfh.2_Missense_Mutation_p.E159K|TIPRL_uc001gff.2_Missense_Mutation_p.E159K	p.E159K	NM_152902	NP_690866	O75663	TIPRL_HUMAN			4	620	+	all_hematologic(923;0.215)		159					B2R8V3|Q5HYB2|Q8IZ86	Missense_Mutation	SNP	ENST00000367833.2	37	c.475G>A	CCDS1270.1	.	.	.	.	.	.	.	.	.	.	G	32	5.192904	0.94960	.	.	ENSG00000143155	ENST00000367833;ENST00000367830	.	.	.	4.96	4.96	0.65561	.	0.098021	0.64402	D	0.000001	D	0.87985	0.6316	H	0.95365	3.66	0.48288	D	0.999628	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.91275	0.5047	8	0.87932	D	0	-25.3598	18.0329	0.89290	0.0:0.0:1.0:0.0	.	159;159	O75663;O75663-2	TIPRL_HUMAN;.	K	159	.	ENSP00000356804:E159K	E	+	1	0	TIPRL	166427321	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.295000	0.78780	2.579000	0.87056	0.557000	0.71058	GAA		0.299	TIPRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083822.1	NM_152902		22	170	0	0	0	0	22	170				
SUCO	51430	broad.mit.edu	37	1	172539802	172539802	+	Splice_Site	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:172539802G>C	ENST00000263688.3	+	9	1200		c.e9-1		SUCO_ENST00000608151.1_Splice_Site|SUCO_ENST00000610051.1_Splice_Site|SUCO_ENST00000367723.4_Splice_Site	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor						multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											TTTTAAAATAGAGCACATCTG	0.269																																						uc001giq.3		NA																	0				ovary(2)	2						c.e9-1		chromosome 1 open reading frame 9 protein							41.0	45.0	44.0					1																	172539802		2182	4261	6443	SO:0001630	splice_region_variant	51430				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane		g.chr1:172539802G>C	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.982-1G>C	1.37:g.172539802G>C						C1orf9_uc010pmm.1_Splice_Site_p.S328_splice|C1orf9_uc009wwd.2_Splice_Site_p.S291_splice|C1orf9_uc010pmn.1_Splice_Site_p.S291_splice|C1orf9_uc010pmo.1_Splice_Site	p.S328_splice	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)	9	1298	+		Breast(1374;0.212)						B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Splice_Site	SNP	ENST00000263688.3	37	c.982_splice	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332892	0.81801	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7272	0.91718	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1orf9	170806425	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	9.675000	0.98638	2.773000	0.95371	0.655000	0.94253	.		0.269	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227	Intron	17	41	0	0	0	0	17	41				
SUCO	51430	broad.mit.edu	37	1	172558197	172558197	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:172558197G>C	ENST00000263688.3	+	18	2175	c.1956G>C	c.(1954-1956)ttG>ttC	p.L652F	SUCO_ENST00000608151.1_Missense_Mutation_p.L804F|SUCO_ENST00000610051.1_Intron|SUCO_ENST00000367723.4_Missense_Mutation_p.L803F	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	652					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											GAACTGCTTTGAGTAAAGGAA	0.393																																						uc001giq.3		NA																	0				ovary(2)	2						c.(1954-1956)TTG>TTC		chromosome 1 open reading frame 9 protein							65.0	68.0	67.0					1																	172558197		2203	4298	6501	SO:0001583	missense	51430				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane		g.chr1:172558197G>C	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1956G>C	1.37:g.172558197G>C	ENSP00000263688:p.Leu652Phe					C1orf9_uc010pmm.1_Missense_Mutation_p.L652F|C1orf9_uc009wwd.2_Missense_Mutation_p.L608F|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_RNA	p.L652F	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)	18	2272	+		Breast(1374;0.212)	652					B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	c.1956G>C	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	G	0.843	-0.741270	0.03088	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.26	0.944	0.19537	.	1.143620	0.06415	N	0.721245	T	0.07143	0.0181	N	0.22421	0.69	0.09310	N	1	B;B;B	0.18461	0.028;0.008;0.01	B;B;B	0.16289	0.015;0.009;0.013	T	0.32107	-0.9919	9	0.27082	T	0.32	0.009	1.6096	0.02691	0.2417:0.1431:0.4678:0.1474	.	652;804;652	B4DZJ3;Q5H945;Q9UBS9	.;.;OSPT_HUMAN	F	804;652	.	ENSP00000263688:L652F	L	+	3	2	C1orf9	170824820	0.001000	0.12720	0.076000	0.20297	0.835000	0.47333	-0.001000	0.12947	0.200000	0.20447	0.563000	0.77884	TTG		0.393	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		25	43	0	0	0	0	25	43				
DARS2	55157	broad.mit.edu	37	1	173795878	173795878	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:173795878C>T	ENST00000361951.4	+	2	908	c.181C>T	c.(181-183)Cac>Tac	p.H61Y	CENPL_ENST00000367710.3_5'Flank|CENPL_ENST00000356198.2_5'Flank|CENPL_ENST00000495275.1_5'Flank|DARS2_ENST00000239457.5_5'UTR|CENPL_ENST00000345664.6_5'Flank	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	61					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	GCGTTCGTCTCACTTAGGCCA	0.388																																						uc001gjh.1		NA																	0				central_nervous_system(2)	2						c.(181-183)CAC>TAC		aspartyl-tRNA synthetase 2, mitochondrial	L-Aspartic Acid(DB00128)						150.0	142.0	145.0					1																	173795878		2203	4300	6503	SO:0001583	missense	55157				tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr1:173795878C>T	AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	25538	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 2, mitochondrial"""	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.181C>T	1.37:g.173795878C>T	ENSP00000355086:p.His61Tyr					CENPL_uc009wwg.2_5'Flank|CENPL_uc001gje.3_5'Flank|CENPL_uc001gjg.3_5'Flank|CENPL_uc001gjf.3_5'Flank	p.H61Y	NM_018122	NP_060592	Q6PI48	SYDM_HUMAN			2	591	+			61						Missense_Mutation	SNP	ENST00000361951.4	37	c.181C>T	CCDS1311.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967720	0.92855	.	.	ENSG00000117593	ENST00000361951	T	0.76448	-1.02	5.57	5.57	0.84162	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.77143	0.4087	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	P	0.59115	0.852	T	0.73496	-0.3964	10	0.09084	T	0.74	-21.2028	18.322	0.90242	0.0:1.0:0.0:0.0	.	61	Q6PI48	SYDM_HUMAN	Y	61	ENSP00000355086:H61Y	ENSP00000355086:H61Y	H	+	1	0	DARS2	172062501	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	4.757000	0.62213	2.610000	0.88304	0.591000	0.81541	CAC		0.388	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084220.1	NM_018122		18	134	0	0	0	0	18	134				
PAPPA2	60676	broad.mit.edu	37	1	176564298	176564298	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:176564298C>T	ENST00000367662.3	+	3	2722	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R520W	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	520	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R520G(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGGCCCCTTCGGGGAGAGAA	0.537																																						uc001gkz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1558-1560)CGG>TGG		pappalysin 2 isoform 1							51.0	52.0	51.0					1																	176564298		2003	4172	6175	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564298C>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1558C>T	1.37:g.176564298C>T	ENSP00000356634:p.Arg520Trp					PAPPA2_uc001gky.1_Missense_Mutation_p.R520W|PAPPA2_uc009www.2_RNA	p.R520W	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	2722	+			520			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1558C>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886360	0.33348	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.58506	0.33;0.33	5.24	4.24	0.50183	.	0.325968	0.32785	N	0.005642	T	0.70640	0.3247	M	0.68952	2.095	0.36330	D	0.858822	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.948	T	0.77419	-0.2595	10	0.87932	D	0	-14.6877	9.8148	0.40846	0.1505:0.7702:0.0:0.0793	.	520;520	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	W	520	ENSP00000356634:R520W;ENSP00000356633:R520W	ENSP00000356633:R520W	R	+	1	2	PAPPA2	174830921	0.967000	0.33354	0.684000	0.30055	0.067000	0.16453	2.019000	0.41001	2.439000	0.82584	0.650000	0.86243	CGG		0.537	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			32	50	0	0	0	0	32	50				
LHX4	89884	broad.mit.edu	37	1	180243597	180243597	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:180243597G>C	ENST00000263726.2	+	6	1300	c.1056G>C	c.(1054-1056)ctG>ctC	p.L352L	RP5-1180C10.2_ENST00000415414.1_RNA|RP5-1180C10.2_ENST00000440959.2_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	352					medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GCCAGACGCTGAGAGCCATGG	0.572																																						uc001goe.1		NA																	0				ovary(1)	1						c.(1054-1056)CTG>CTC		LIM homeobox protein 4							190.0	193.0	192.0					1																	180243597		2203	4300	6503	SO:0001819	synonymous_variant	89884					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:180243597G>C	AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"""Homeoboxes / LIM class"""	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.1056G>C	1.37:g.180243597G>C						uc001gof.1_Intron	p.L352L	NM_033343	NP_203129	Q969G2	LHX4_HUMAN			6	1279	+			352					Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Silent	SNP	ENST00000263726.2	37	c.1056G>C	CCDS1338.1																																																																																				0.572	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343		46	296	0	0	0	0	46	296				
SHCBP1L	81626	broad.mit.edu	37	1	182869253	182869253	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:182869253G>C	ENST00000367547.3	-	10	2063	c.1827C>G	c.(1825-1827)ctC>ctG	p.L609L	SHCBP1L_ENST00000423786.1_Silent_p.L490L|SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	681										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						CCCTTTTGTTGAGAGCTTCTT	0.313																																						uc001gpu.2		NA																	0					0						c.(1825-1827)CTC>CTG		chromosome 1 open reading frame 14							65.0	63.0	64.0					1																	182869253		2203	4300	6503	SO:0001819	synonymous_variant	81626							g.chr1:182869253G>C	AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 14"""	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.1827C>G	1.37:g.182869253G>C						C1orf14_uc001gpv.2_Silent_p.L490L|C1orf14_uc010pnz.1_Silent_p.L467L|C1orf14_uc001gpw.2_Silent_p.L329L	p.L609L	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN		Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)	10	2112	-			681					Q4G195|Q9BZQ3|Q9H2B6	Silent	SNP	ENST00000367547.3	37	c.1827C>G	CCDS30955.1																																																																																				0.313	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933		9	62	0	0	0	0	9	62				
SWT1	54823	broad.mit.edu	37	1	185143909	185143909	+	Silent	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:185143909A>G	ENST00000367500.4	+	5	795	c.630A>G	c.(628-630)caA>caG	p.Q210Q	SWT1_ENST00000367501.3_Silent_p.Q210Q	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	210										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AGAGAAATCAATTTTCTCAGG	0.348																																						uc001grg.3		NA																	0					0						c.(628-630)CAA>CAG		hypothetical protein LOC54823							59.0	68.0	65.0					1																	185143909		2193	4296	6489	SO:0001819	synonymous_variant	54823							g.chr1:185143909A>G	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.630A>G	1.37:g.185143909A>G						C1orf26_uc001grh.3_Silent_p.Q210Q	p.Q210Q	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN			5	744	+			210					Q8NEK9|Q9BZQ7|Q9NXQ0	Silent	SNP	ENST00000367500.4	37	c.630A>G	CCDS1367.1																																																																																				0.348	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		34	170	0	0	0	0	34	170				
KIF14	9928	broad.mit.edu	37	1	200534687	200534687	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:200534687C>G	ENST00000367350.4	-	24	4210	c.3772G>C	c.(3772-3774)Gat>Cat	p.D1258H		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1258	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CTTTCTTCATCATAACTCTGT	0.333																																						uc010ppk.1		NA																	0				breast(3)|ovary(2)|skin(2)	7						c.(3772-3774)GAT>CAT		kinesin family member 14							60.0	61.0	61.0					1																	200534687		2202	4300	6502	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200534687C>G	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.3772G>C	1.37:g.200534687C>G	ENSP00000356319:p.Asp1258His					KIF14_uc010ppj.1_Missense_Mutation_p.D767H	p.D1258H	NM_014875	NP_055690	Q15058	KIF14_HUMAN			24	4211	-			1258			Required for CIT-binding.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.3772G>C	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610450	0.66558	.	.	ENSG00000118193	ENST00000367350	T	0.74632	-0.86	5.57	3.71	0.42584	.	0.368942	0.28964	N	0.013573	T	0.71117	0.3302	L	0.60455	1.87	0.37866	D	0.929893	P	0.45283	0.855	B	0.42214	0.38	T	0.74999	-0.3472	10	0.66056	D	0.02	.	11.8839	0.52592	0.0:0.8589:0.0:0.1411	.	1258	Q15058	KIF14_HUMAN	H	1258	ENSP00000356319:D1258H	ENSP00000356319:D1258H	D	-	1	0	KIF14	198801310	0.987000	0.35691	0.748000	0.31131	0.981000	0.71138	2.382000	0.44345	0.720000	0.32209	0.591000	0.81541	GAT		0.333	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		6	116	0	0	0	0	6	116				
KIF21B	23046	broad.mit.edu	37	1	200960823	200960823	+	Missense_Mutation	SNP	G	G	A	rs541811989		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:200960823G>A	ENST00000422435.2	-	17	2732	c.2416C>T	c.(2416-2418)Cgg>Tgg	p.R806W	KIF21B_ENST00000461742.2_Missense_Mutation_p.R806W|KIF21B_ENST00000360529.5_Missense_Mutation_p.R806W|KIF21B_ENST00000332129.2_Missense_Mutation_p.R806W	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	806					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCCTGCTGCCGCTTCTGGGAC	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18602	0.0		0.0	False		,,,				2504	0.0					uc001gvs.1		NA																	0				ovary(3)|skin(3)	6						c.(2416-2418)CGG>TGG		kinesin family member 21B							58.0	55.0	56.0					1																	200960823		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200960823G>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.2416C>T	1.37:g.200960823G>A	ENSP00000411831:p.Arg806Trp					KIF21B_uc001gvr.1_Missense_Mutation_p.R806W|KIF21B_uc009wzl.1_Missense_Mutation_p.R806W|KIF21B_uc010ppn.1_Missense_Mutation_p.R806W	p.R806W	NM_017596	NP_060066	O75037	KI21B_HUMAN			17	2733	-			806			Potential.		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.2416C>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628048	0.87560	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.46639	0.1403	M	0.77313	2.365	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.993;0.993;0.993;0.997	T	0.50136	-0.8863	10	0.87932	D	0	.	12.9062	0.58154	0.0:0.0:0.8374:0.1626	.	806;806;806;806	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	W	806	ENSP00000328494:R806W;ENSP00000353724:R806W;ENSP00000433808:R806W;ENSP00000411831:R806W	ENSP00000328494:R806W	R	-	1	2	KIF21B	199227446	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.543000	0.36147	2.270000	0.75569	0.561000	0.74099	CGG		0.617	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		22	38	0	0	0	0	22	38				
KLHL12	59349	broad.mit.edu	37	1	202861736	202861736	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:202861736G>A	ENST00000367261.3	-	12	1850	c.1632C>T	c.(1630-1632)atC>atT	p.I544I	KLHL12_ENST00000367259.1_3'UTR|KLHL12_ENST00000435533.3_Silent_p.I582I	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	544	Interaction with DVL3.				COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			CCCAGCTGTCGATGATAGGGT	0.488																																						uc001gyo.1		NA																	0					0						c.(1630-1632)ATC>ATT		kelch-like 12							124.0	97.0	106.0					1																	202861736		2203	4300	6503	SO:0001819	synonymous_variant	59349				Wnt receptor signaling pathway		protein binding	g.chr1:202861736G>A	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.1632C>T	1.37:g.202861736G>A						KLHL12_uc001gym.1_3'UTR|KLHL12_uc001gyn.1_3'UTR|KLHL12_uc010pqc.1_Silent_p.I582I	p.I544I	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		12	1832	-			544			Kelch 6.|Interaction with DVL3.		A6NEN8|B7Z7B8|Q9HBX5	Silent	SNP	ENST00000367261.3	37	c.1632C>T	CCDS1429.1																																																																																				0.488	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633		12	105	0	0	0	0	12	105				
TMCC2	9911	broad.mit.edu	37	1	205210816	205210816	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:205210816C>T	ENST00000358024.3	+	2	780	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	TMCC2_ENST00000545499.1_Missense_Mutation_p.R53C|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	131						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGAGATGCATCGCGTCTCCTA	0.657																																						uc001hbz.1		NA																	0				pancreas(1)	1						c.(391-393)CGC>TGC		transmembrane and coiled-coil domain family 2							83.0	66.0	72.0					1																	205210816		2203	4300	6503	SO:0001583	missense	9911					integral to membrane	protein binding	g.chr1:205210816C>T	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.391C>T	1.37:g.205210816C>T	ENSP00000350718:p.Arg131Cys					TMCC2_uc010prf.1_Missense_Mutation_p.R53C	p.R131C	NM_014858	NP_055673	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		3	835	+	Breast(84;0.0871)		131					A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	ENST00000358024.3	37	c.391C>T	CCDS30984.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366880	0.61513	.	.	ENSG00000133069	ENST00000358024;ENST00000545499	T;T	0.33438	1.41;1.43	4.64	4.64	0.57946	.	0.192288	0.37437	N	0.002098	T	0.29749	0.0743	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	P	0.54346	0.749	T	0.40720	-0.9548	10	0.87932	D	0	.	17.4611	0.87620	0.0:1.0:0.0:0.0	.	131	O75069	TMCC2_HUMAN	C	131;53	ENSP00000350718:R131C;ENSP00000437943:R53C	ENSP00000350718:R131C	R	+	1	0	TMCC2	203477439	1.000000	0.71417	0.997000	0.53966	0.351000	0.29236	3.564000	0.53791	2.271000	0.75665	0.462000	0.41574	CGC		0.657	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		25	27	0	0	0	0	25	27				
FAIM3	9214	broad.mit.edu	37	1	207087216	207087216	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:207087216G>C	ENST00000367091.3	-	2	404	c.261C>G	c.(259-261)ttC>ttG	p.F87L	FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000420007.2_Missense_Mutation_p.F87L|FAIM3_ENST00000442471.2_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	87	Ig-like.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					CCTCCACTAGGAACAGATTCT	0.522																																						uc001hey.2		NA																	0				central_nervous_system(1)	1						c.(259-261)TTC>TTG		Fas apoptotic inhibitory molecule 3 isoform a							138.0	128.0	131.0					1																	207087216		2203	4300	6503	SO:0001583	missense	9214				anti-apoptosis|cellular defense response	integral to membrane		g.chr1:207087216G>C	AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.261C>G	1.37:g.207087216G>C	ENSP00000356058:p.Phe87Leu					FAIM3_uc010prz.1_Intron|FAIM3_uc010psa.1_Missense_Mutation_p.P31A|FAIM3_uc010psb.1_Missense_Mutation_p.F87L	p.F87L	NM_005449	NP_005440	O60667	FAIM3_HUMAN			2	440	-	Breast(84;0.201)		87			Ig-like.|Extracellular (Potential).		A8K7J2|B7Z6Z0|D9MWM3	Missense_Mutation	SNP	ENST00000367091.3	37	c.261C>G	CCDS1473.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703133	0.68501	.	.	ENSG00000162894	ENST00000367091;ENST00000420007;ENST00000525793;ENST00000529560;ENST00000530505	T;T;T;T;T	0.04454	3.62;3.62;3.62;3.62;3.62	5.28	4.37	0.52481	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000043	T	0.17959	0.0431	M	0.75884	2.315	0.38318	D	0.943439	D	0.71674	0.998	D	0.76575	0.988	T	0.01480	-1.1344	10	0.46703	T	0.11	-27.9966	9.695	0.40152	0.0953:0.0:0.9047:0.0	.	87	O60667	FAIM3_HUMAN	L	87;87;87;87;118	ENSP00000356058:F87L;ENSP00000403356:F87L;ENSP00000432936:F87L;ENSP00000437331:F87L;ENSP00000436316:F118L	ENSP00000356058:F87L	F	-	3	2	FAIM3	205153839	1.000000	0.71417	0.879000	0.34478	0.566000	0.35808	1.446000	0.35090	1.228000	0.43614	0.655000	0.94253	TTC		0.522	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088677.1	NM_005449		6	181	0	0	0	0	6	181				
PLXNA2	5362	broad.mit.edu	37	1	208218433	208218433	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:208218433G>A	ENST00000367033.3	-	19	4375	c.3618C>T	c.(3616-3618)ctC>ctT	p.L1206L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1206	IPT/TIG 4.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCTGCCCGGTGAGGTTGGGAG	0.577																																						uc001hgz.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(3616-3618)CTC>CTT		plexin A2 precursor							114.0	93.0	100.0					1																	208218433		2203	4300	6503	SO:0001819	synonymous_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208218433G>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3618C>T	1.37:g.208218433G>A							p.L1206L	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	19	4376	-			1206			IPT/TIG 4.|Extracellular (Potential).		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	37	c.3618C>T	CCDS31013.1																																																																																				0.577	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		5	104	0	0	0	0	5	104				
DUSP10	11221	broad.mit.edu	37	1	221912637	221912637	+	Missense_Mutation	SNP	G	G	C	rs35391196		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:221912637G>C	ENST00000366899.3	-	2	688	c.450C>G	c.(448-450)atC>atG	p.I150M	DUSP10_ENST00000544095.1_5'Flank|DUSP10_ENST00000323825.3_Intron|DUSP10_ENST00000468085.1_5'Flank	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	150					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CATTGGGGTAGATTATTTTGA	0.512																																						uc001hmy.1		NA																	0				upper_aerodigestive_tract(1)|lung(1)	2						c.(448-450)ATC>ATG		dual specificity phosphatase 10 isoform a							93.0	87.0	89.0					1																	221912637		2203	4300	6503	SO:0001583	missense	11221				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr1:221912637G>C	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.450C>G	1.37:g.221912637G>C	ENSP00000355866:p.Ile150Met					DUSP10_uc001hmx.1_5'Flank|DUSP10_uc001hmz.1_Intron	p.I150M	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN		GBM - Glioblastoma multiforme(131;0.0103)	2	632	-			150					D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	ENST00000366899.3	37	c.450C>G	CCDS1528.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100273	0.56183	.	.	ENSG00000143507	ENST00000366899;ENST00000418487	T	0.55052	0.54	5.76	3.86	0.44501	Rhodanese-like (2);	0.000000	0.85682	D	0.000000	T	0.43722	0.1260	N	0.24115	0.695	0.80722	D	1	P	0.46656	0.882	P	0.47941	0.562	T	0.36040	-0.9764	10	0.56958	D	0.05	.	8.9672	0.35883	0.074:0.0:0.778:0.148	.	150	Q9Y6W6	DUS10_HUMAN	M	150;95	ENSP00000355866:I150M	ENSP00000355866:I150M	I	-	3	3	DUSP10	219979260	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.423000	0.52756	0.759000	0.33084	0.591000	0.81541	ATC		0.512	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1	NM_007207		5	123	0	0	0	0	5	123				
ADCK3	56997	broad.mit.edu	37	1	227171832	227171832	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:227171832G>C	ENST00000366779.1	+	16	4065	c.1294G>C	c.(1294-1296)Gag>Cag	p.E432Q	ADCK3_ENST00000366778.1_Missense_Mutation_p.E380Q|ADCK3_ENST00000433743.2_Missense_Mutation_p.E106Q|ADCK3_ENST00000366777.3_Missense_Mutation_p.E432Q|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000458507.2_Missense_Mutation_p.E153Q			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	432	Protein kinase.				cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CTATGTGCCTGAGATTGTGGA	0.642																																						uc001hqm.1		NA																	0					0						c.(1294-1296)GAG>CAG		chaperone, ABC1 activity of bc1 complex like							49.0	45.0	46.0					1																	227171832		2203	4299	6502	SO:0001583	missense	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227171832G>C	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1294G>C	1.37:g.227171832G>C	ENSP00000355741:p.Glu432Gln					CABC1_uc001hqn.1_Missense_Mutation_p.E432Q|CABC1_uc009xeq.1_Missense_Mutation_p.E380Q|CABC1_uc010pvq.1_Missense_Mutation_p.E153Q|CABC1_uc010pvr.1_Missense_Mutation_p.E106Q|CABC1_uc001hqo.1_Missense_Mutation_p.E153Q|CABC1_uc009xer.1_5'UTR	p.E432Q	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN			16	4713	+		Prostate(94;0.0771)	432			Protein kinase.		Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Missense_Mutation	SNP	ENST00000366779.1	37	c.1294G>C	CCDS1557.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556479	0.27827	.	.	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000458507;ENST00000366775;ENST00000405743;ENST00000433743	T;T;T;T;T;T;T	0.55413	0.69;0.69;0.69;0.69;0.69;0.69;0.52	5.54	4.63	0.57726	ABC-1 (1);Protein kinase-like domain (1);	0.491168	0.25040	N	0.033616	T	0.39036	0.1063	L	0.28740	0.885	0.36368	D	0.861113	B;B	0.25563	0.007;0.129	B;B	0.25759	0.026;0.063	T	0.40156	-0.9578	10	0.23302	T	0.38	-19.8429	11.2932	0.49263	0.159:0.0:0.841:0.0	.	106;432	E7EVZ8;Q8NI60	.;ADCK3_HUMAN	Q	432;380;432;357;153;277;383;106	ENSP00000355741:E432Q;ENSP00000355740:E380Q;ENSP00000355739:E432Q;ENSP00000355738:E357Q;ENSP00000403704:E153Q;ENSP00000355737:E277Q;ENSP00000404550:E106Q	ENSP00000355737:E277Q	E	+	1	0	ADCK3	225238455	0.998000	0.40836	0.980000	0.43619	0.536000	0.34869	4.823000	0.62694	1.339000	0.45563	0.561000	0.74099	GAG		0.642	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		4	41	0	0	0	0	4	41				
DISC1	27185	broad.mit.edu	37	1	231830436	231830436	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:231830436G>T	ENST00000602281.1	+	2	985	c.932G>T	c.(931-933)gGc>gTc	p.G311V	DISC1_ENST00000366636.4_Missense_Mutation_p.G311V|DISC1_ENST00000537876.1_Missense_Mutation_p.G311V|DISC1_ENST00000317586.4_Missense_Mutation_p.G311V|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000539444.1_Missense_Mutation_p.G311V|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000439617.2_Missense_Mutation_p.G311V|DISC1_ENST00000535983.1_Missense_Mutation_p.G311V|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000366633.3_Missense_Mutation_p.G311V	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	311	Interaction with TRAF3IP1.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				TCACTGGCTGGCTGTGGTGGT	0.617																																						uc001huz.2		NA																	0				skin(1)	1						c.(931-933)GGC>GTC		disrupted in schizophrenia 1 isoform L							52.0	53.0	53.0					1																	231830436		2203	4300	6503	SO:0001583	missense	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231830436G>T	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.932G>T	1.37:g.231830436G>T	ENSP00000473425:p.Gly311Val					TSNAX-DISC1_uc010pwe.1_Missense_Mutation_p.G266V|TSNAX-DISC1_uc010pwf.1_Missense_Mutation_p.G266V|TSNAX-DISC1_uc010pwg.1_Missense_Mutation_p.G300V|TSNAX-DISC1_uc010pwh.1_Missense_Mutation_p.G266V|TSNAX-DISC1_uc010pwi.1_Missense_Mutation_p.G266V|TSNAX-DISC1_uc010pwj.1_Missense_Mutation_p.G300V|TSNAX-DISC1_uc010pwk.1_Missense_Mutation_p.G300V|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwo.1_Missense_Mutation_p.G311V|DISC1_uc010pwp.1_Missense_Mutation_p.G311V|DISC1_uc010pwq.1_Missense_Mutation_p.G311V|DISC1_uc010pwr.1_Missense_Mutation_p.G311V|DISC1_uc010pws.1_Missense_Mutation_p.G311V|DISC1_uc010pwt.1_Missense_Mutation_p.G311V|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Missense_Mutation_p.G311V|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Missense_Mutation_p.G311V|DISC1_uc010pxb.1_Missense_Mutation_p.G311V|DISC1_uc010pxc.1_Missense_Mutation_p.G311V|DISC1_uc010pxd.1_5'UTR|DISC1_uc010pxe.1_Missense_Mutation_p.G311V|DISC1_uc009xfr.2_Missense_Mutation_p.G266V|DISC1_uc010pxf.1_Missense_Mutation_p.G311V|DISC1_uc010pxg.1_Missense_Mutation_p.G311V|DISC1_uc010pxh.1_Missense_Mutation_p.G311V|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.G311V|DISC1_uc010pxn.1_5'UTR|DISC1_uc001hva.2_Missense_Mutation_p.G311V|DISC1_uc010pwm.1_Missense_Mutation_p.G311V|DISC1_uc001hux.1_Missense_Mutation_p.G311V|DISC1_uc001hvc.3_Missense_Mutation_p.G311V|DISC1_uc010pwn.1_Missense_Mutation_p.G311V	p.G311V	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN			2	985	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	311			Interaction with TRAF3IP1.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	c.932G>T	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830785	0.32329	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000317586;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944;ENST00000366632	T;T;T;T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82;1.82	3.57	1.47	0.22746	.	0.545312	0.19478	N	0.113282	T	0.37210	0.0995	L	0.50333	1.59	0.09310	N	0.999993	D;D;P;D;D;P;D;D;D;D;D;D;D;D;P;D;D;P;D;D;D	0.71674	0.996;0.996;0.515;0.995;0.996;0.734;0.996;0.996;0.996;0.996;0.995;0.995;0.995;0.996;0.711;0.996;0.998;0.711;0.996;0.996;0.996	P;D;B;D;D;B;D;D;D;D;D;D;D;D;B;D;D;B;D;D;P	0.69654	0.801;0.936;0.209;0.944;0.936;0.421;0.936;0.936;0.936;0.936;0.944;0.944;0.919;0.936;0.433;0.914;0.965;0.433;0.914;0.936;0.906	T	0.06110	-1.0845	10	0.87932	D	0	-5.34	6.3851	0.21556	0.2749:0.0:0.7251:0.0	.	311;311;311;311;311;311;311;311;311;311;311;311;311;311;311;311;311;311;311;311;311	C4P094;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P091;C4P0D2;C4P0D3;C4P0B1;A7E2W8;Q5T409;C4P0D0;Q9NRI5-2;Q9NRI5;Q9NRI5-3;Q9NRI5-4	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.;.	V	311;311;311;311;311;311;311;311;311;311;311;311;162	ENSP00000403888:G311V;ENSP00000320784:G311V;ENSP00000355596:G311V;ENSP00000443996:G311V;ENSP00000440909:G311V;ENSP00000355593:G311V;ENSP00000440953:G311V;ENSP00000295051:G311V;ENSP00000441193:G311V	ENSP00000295051:G311V	G	+	2	0	DISC1	229897059	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.662000	0.25038	0.597000	0.29811	0.561000	0.74099	GGC		0.617	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		16	87	1	0	6.5e-13	6.86e-13	16	87				
SIPA1L2	57568	broad.mit.edu	37	1	232601014	232601014	+	Silent	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:232601014G>T	ENST00000366630.1	-	8	2750	c.2392C>A	c.(2392-2394)Cga>Aga	p.R798R	SIPA1L2_ENST00000262861.4_Silent_p.R798R|SIPA1L2_ENST00000308942.4_5'Flank			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	798	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.R798*(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCCATTGCTCGAAACTTTTCT	0.468																																						uc001hvg.2		NA																	1	Substitution - Nonsense(1)		large_intestine(1)	ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(2392-2394)CGA>AGA		signal-induced proliferation-associated 1 like							102.0	102.0	102.0					1																	232601014		1955	4187	6142	SO:0001819	synonymous_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232601014G>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2392C>A	1.37:g.232601014G>T						SIPA1L2_uc001hvf.2_5'Flank	p.R798R	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			7	2550	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	798			Rap-GAP.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	c.2392C>A	CCDS41474.1																																																																																				0.468	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		30	194	1	0	2.47e-13	2.61e-13	30	194				
ERO1LB	56605	broad.mit.edu	37	1	236416724	236416724	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:236416724C>G	ENST00000354619.5	-	3	505	c.304G>C	c.(304-306)Gag>Cag	p.E102Q	ERO1LB_ENST00000327333.8_Missense_Mutation_p.E102Q	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	102					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)	p.E102K(1)		NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	TATTATACCTCTGGACAGGGC	0.383																																						uc001hxt.2		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(304-306)GAG>CAG		endoplasmic reticulum oxidoreductin 1-Lbeta							48.0	46.0	47.0					1																	236416724		2203	4300	6503	SO:0001583	missense	56605				electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	g.chr1:236416724C>G	AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.304G>C	1.37:g.236416724C>G	ENSP00000346635:p.Glu102Gln					ERO1LB_uc010pxt.1_Missense_Mutation_p.E102Q	p.E102Q	NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		3	560	-	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	102					B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	ENST00000354619.5	37	c.304G>C	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455769	0.84209	.	.	ENSG00000086619	ENST00000354619;ENST00000327333	T;T	0.48201	0.82;0.82	5.65	5.65	0.86999	.	0.155531	0.56097	D	0.000026	T	0.57213	0.2038	L	0.53561	1.675	0.80722	D	1	P;B	0.50819	0.939;0.065	P;B	0.51324	0.666;0.206	T	0.57112	-0.7867	10	0.52906	T	0.07	-4.6606	18.4833	0.90819	0.0:1.0:0.0:0.0	.	102;102	B4DF57;Q86YB8	.;ERO1B_HUMAN	Q	102	ENSP00000346635:E102Q;ENSP00000377574:E102Q	ENSP00000377574:E102Q	E	-	1	0	ERO1LB	234483347	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	5.379000	0.66196	2.662000	0.90505	0.561000	0.74099	GAG		0.383	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891		22	34	0	0	0	0	22	34				
HEATR1	55127	broad.mit.edu	37	1	236719107	236719107	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:236719107C>T	ENST00000366582.3	-	39	5761	c.5647G>A	c.(5647-5649)Gag>Aag	p.E1883K	HEATR1_ENST00000366581.2_Missense_Mutation_p.E1802K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1883					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GAGCTTACCTCAGAGTGCTGG	0.493																																						uc001hyd.1		NA																	0				ovary(2)|skin(1)	3						c.(5647-5649)GAG>AAG		protein BAP28							118.0	115.0	116.0					1																	236719107		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236719107C>T	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.5647G>A	1.37:g.236719107C>T	ENSP00000355541:p.Glu1883Lys					HEATR1_uc009xgh.1_Missense_Mutation_p.E1045K	p.E1883K	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		39	5772	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1883					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.5647G>A	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020451	0.54576	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.39592	1.07;1.07	4.93	4.93	0.64822	BP28, C-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.113605	0.64402	D	0.000013	T	0.37705	0.1013	L	0.28115	0.83	0.80722	D	1	P;P	0.46578	0.681;0.88	P;B	0.47915	0.561;0.266	T	0.04811	-1.0925	10	0.22706	T	0.39	.	15.4188	0.74995	0.0:0.7944:0.2056:0.0	.	1802;1883	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	K	1883;1802	ENSP00000355541:E1883K;ENSP00000355540:E1802K	ENSP00000355540:E1802K	E	-	1	0	HEATR1	234785730	0.995000	0.38212	0.972000	0.41901	0.632000	0.37999	2.680000	0.46918	2.566000	0.86566	0.455000	0.32223	GAG		0.493	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		11	217	0	0	0	0	11	217				
CEP170	9859	broad.mit.edu	37	1	243319598	243319598	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:243319598G>C	ENST00000366542.1	-	14	3887	c.3836C>G	c.(3835-3837)tCt>tGt	p.S1279C	CEP170_ENST00000366544.1_Missense_Mutation_p.S1181C|CEP170_ENST00000490813.1_Missense_Mutation_p.S5C|CEP170_ENST00000481987.1_Missense_Mutation_p.S5C|CEP170_ENST00000366543.1_Missense_Mutation_p.S1145C	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1279	Targeting to centrosomes.|Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTTGAATGAAGAACTAGTAGG	0.463																																						uc001hzs.2		NA																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(3835-3837)TCT>TGT		centrosomal protein 170kDa isoform alpha							32.0	32.0	32.0					1																	243319598		1830	4064	5894	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243319598G>C	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3836C>G	1.37:g.243319598G>C	ENSP00000355500:p.Ser1279Cys					CEP170_uc001hzt.2_Missense_Mutation_p.S1145C|CEP170_uc001hzu.2_Missense_Mutation_p.S1181C|CEP170_uc001hzv.1_Missense_Mutation_p.S621C	p.S1279C	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		14	4244	-	all_neural(11;0.101)	all_cancers(173;0.003)	1279			Targeting to microtubules.|Targeting to centrosomes.		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.3836C>G	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.46|14.46	2.542876|2.542876	0.45280|0.45280	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000336415|ENST00000366542;ENST00000366544;ENST00000366543;ENST00000481987;ENST00000532008;ENST00000490813;ENST00000413359;ENST00000464936;ENST00000492145	.|T;T;T;T	.|0.49139	.|0.82;0.81;0.79;1.87	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	.|0.430489	.|0.27792	.|N	.|0.017840	T|T	0.53142|0.53142	0.1778|0.1778	L|L	0.27053|0.27053	0.805|0.805	0.31962|0.31962	N|N	0.608272|0.608272	.|D;D;D;D	.|0.71674	.|0.998;0.996;0.996;0.998	.|D;P;P;P	.|0.66716	.|0.946;0.891;0.891;0.872	T|T	0.61525|0.61525	-0.7045|-0.7045	5|10	.|0.59425	.|D	.|0.04	-10.4973|-10.4973	12.7446|12.7446	0.57273|0.57273	0.0:0.0:0.8245:0.1755|0.0:0.0:0.8245:0.1755	.|.	.|1242;1181;1145;1279	.|B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79	.|.;.;.;CE170_HUMAN	V|C	1243|1279;1181;1145;5;204;5;88;5;5	.|ENSP00000355500:S1279C;ENSP00000355502:S1181C;ENSP00000355501:S1145C;ENSP00000394002:S88C	.|ENSP00000355500:S1279C	L|S	-|-	1|2	0|0	CEP170|CEP170	241386221|241386221	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	1.978000|1.978000	0.40598|0.40598	2.244000|2.244000	0.73946|0.73946	0.555000|0.555000	0.69702|0.69702	CTT|TCT		0.463	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		3	20	0	0	0	0	3	20				
CEP170	9859	broad.mit.edu	37	1	243362377	243362377	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:243362377C>T	ENST00000366542.1	-	7	667	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	CEP170_ENST00000366544.1_Missense_Mutation_p.E206K|CEP170_ENST00000366543.1_Missense_Mutation_p.E206K	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	206						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GTTCCAGCTTCATGGTTTTTT	0.403																																						uc001hzs.2		NA																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(616-618)GAA>AAA		centrosomal protein 170kDa isoform alpha							90.0	75.0	79.0					1																	243362377		1822	4081	5903	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243362377C>T	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.616G>A	1.37:g.243362377C>T	ENSP00000355500:p.Glu206Lys					CEP170_uc001hzt.2_Missense_Mutation_p.E206K|CEP170_uc001hzu.2_Missense_Mutation_p.E206K	p.E206K	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		7	1024	-	all_neural(11;0.101)	all_cancers(173;0.003)	206					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.616G>A	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.972|8.972	0.973223|0.973223	0.18736|0.18736	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000424081|ENST00000336415	T;T;T|.	0.33865|.	1.39;1.39;1.39|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	0.284754|.	0.37906|.	N|.	0.001900|.	T|T	0.70919|0.70919	0.3279|0.3279	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	B;B;P|.	0.38992|.	0.035;0.046;0.653|.	B;B;B|.	0.36186|.	0.067;0.037;0.219|.	T|T	0.68812|0.68812	-0.5310|-0.5310	10|5	0.22109|.	T|.	0.4|.	-2.7506|-2.7506	18.4118|18.4118	0.90554|0.90554	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	206;206;206|.	Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;CE170_HUMAN|.	K|I	206;206;206;104|107	ENSP00000355500:E206K;ENSP00000355502:E206K;ENSP00000355501:E206K|.	ENSP00000355500:E206K|.	E|M	-|-	1|3	0|0	CEP170|CEP170	241429000|241429000	1.000000|1.000000	0.71417|0.71417	0.105000|0.105000	0.21289|0.21289	0.254000|0.254000	0.26022|0.26022	6.461000|6.461000	0.73522|0.73522	2.355000|2.355000	0.79922|0.79922	0.455000|0.455000	0.32223|0.32223	GAA|ATG		0.403	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		4	35	0	0	0	0	4	35				
SDCCAG8	10806	broad.mit.edu	37	1	243504340	243504340	+	Splice_Site	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:243504340G>A	ENST00000366541.3	+	11	1339		c.e11-1		SDCCAG8_ENST00000343783.6_Splice_Site|SDCCAG8_ENST00000355875.4_Splice_Site	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8						establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TTCCCTTACAGATGTTGATCT	0.358																																						uc001hzw.2		NA																	0					0						c.e11-1		serologically defined colon cancer antigen 8							91.0	98.0	95.0					1																	243504340		2203	4300	6503	SO:0001630	splice_region_variant	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243504340G>A	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.1222-1G>A	1.37:g.243504340G>A						SDCCAG8_uc010pyk.1_Splice_Site_p.M263_splice|SDCCAG8_uc010pyl.1_Splice_Site_p.M220_splice|SDCCAG8_uc001hzx.2_Splice_Site_p.M220_splice	p.M408_splice	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	11	1378	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)						O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Splice_Site	SNP	ENST00000366541.3	37	c.1222_splice	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201239	0.38905	.	.	ENSG00000054282	ENST00000355875;ENST00000366541;ENST00000343783;ENST00000435549	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SDCCAG8	241570963	1.000000	0.71417	0.997000	0.53966	0.197000	0.23852	6.778000	0.75043	2.840000	0.97914	0.655000	0.94253	.		0.358	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642	Intron	9	101	0	0	0	0	9	101				
OR2T3	343173	broad.mit.edu	37	1	248637600	248637600	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:248637600G>C	ENST00000359594.2	+	1	974	c.949G>C	c.(949-951)Gaa>Caa	p.E317Q		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	317						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AATGAACCAAGAAAAGTAGTA	0.502																																						uc001iel.1		NA																	0				skin(1)	1						c.(949-951)GAA>CAA		olfactory receptor, family 2, subfamily T,							215.0	236.0	229.0					1																	248637600		2201	4298	6499	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637600G>C		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.949G>C	1.37:g.248637600G>C	ENSP00000352604:p.Glu317Gln						p.E317Q	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	949	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		317			Cytoplasmic (Potential).		B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.949G>C	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	g	3.753	-0.051212	0.07407	.	.	ENSG00000196539	ENST00000359594	T	0.10382	2.88	1.78	0.622	0.17648	.	.	.	.	.	T	0.03608	0.0103	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.44298	-0.9337	9	0.02654	T	1	.	3.5193	0.07736	0.3584:0.0:0.6416:0.0	.	317	Q8NH03	OR2T3_HUMAN	Q	317	ENSP00000352604:E317Q	ENSP00000352604:E317Q	E	+	1	0	OR2T3	246704223	0.000000	0.05858	0.002000	0.10522	0.103000	0.19146	-0.509000	0.06336	-0.011000	0.14247	0.186000	0.17326	GAA		0.502	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		101	353	0	0	0	0	101	353				
SFMBT2	57713	broad.mit.edu	37	10	7262467	7262467	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:7262467C>T	ENST00000361972.4	-	11	1326	c.1236G>A	c.(1234-1236)atG>atA	p.M412I	SFMBT2_ENST00000397167.1_Missense_Mutation_p.M412I	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	412					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTTCAAGTTTCATGTTCTTTG	0.517																																						uc009xio.1		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(1234-1236)ATG>ATA		Scm-like with four mbt domains 2							198.0	176.0	184.0					10																	7262467		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7262467C>T	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1236G>A	10.37:g.7262467C>T	ENSP00000355109:p.Met412Ile					SFMBT2_uc001ijn.1_Missense_Mutation_p.M412I|SFMBT2_uc010qay.1_Intron	p.M412I	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			11	1327	-			412			MBT 4.		A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.1236G>A	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699662	0.88830	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.52057	0.68;0.68	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.79627	0.4478	H	0.96208	3.785	0.80722	D	1	D	0.56521	0.976	D	0.72338	0.977	D	0.86078	0.1542	10	0.72032	D	0.01	.	18.7763	0.91912	0.0:1.0:0.0:0.0	.	412	Q5VUG0	SMBT2_HUMAN	I	412	ENSP00000355109:M412I;ENSP00000380353:M412I	ENSP00000355109:M412I	M	-	3	0	SFMBT2	7302473	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.037000	0.70956	2.530000	0.85305	0.563000	0.77884	ATG		0.517	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		62	116	0	0	0	0	62	116				
DHTKD1	55526	broad.mit.edu	37	10	12162209	12162209	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:12162209G>A	ENST00000263035.4	+	16	2663	c.2601G>A	c.(2599-2601)caG>caA	p.Q867Q		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	867					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			AGGAACCTCAGAACATGGGTC	0.448																																						uc001ild.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2599-2601)CAG>CAA		dehydrogenase E1 and transketolase domain							209.0	194.0	199.0					10																	12162209		2203	4300	6503	SO:0001819	synonymous_variant	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12162209G>A	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2601G>A	10.37:g.12162209G>A							p.Q867Q	NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		16	2700	+		Renal(717;0.228)	867					Q68CU5|Q9BUM8|Q9HCE2	Silent	SNP	ENST00000263035.4	37	c.2601G>A	CCDS7087.1																																																																																				0.448	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		79	115	0	0	0	0	79	115				
OLAH	55301	broad.mit.edu	37	10	15115168	15115168	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:15115168G>A	ENST00000378228.3	+	8	992	c.738G>A	c.(736-738)gaG>gaA	p.E246E	OLAH_ENST00000378217.3_Silent_p.E299E|OLAH_ENST00000485251.1_3'UTR	NM_001039702.2	NP_001034791.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	246					fatty acid biosynthetic process (GO:0006633)		myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						CTGCGAACGAGAAATTAATCA	0.328																																						uc001inu.2		NA																	0					0						c.(736-738)GAG>GAA		oleoyl-ACP hydrolase isoform 2							80.0	85.0	83.0					10																	15115168		2203	4300	6503	SO:0001819	synonymous_variant	55301				fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	g.chr10:15115168G>A	AK001844	CCDS7106.1, CCDS31152.1	10p13	2010-11-23	2006-07-07	2006-07-07	ENSG00000152463	ENSG00000152463	3.1.2.14		25625	protein-coding gene	gene with protein product			"""thioesterase domain containing 1"""	THEDC1			Standard	NM_018324		Approved	FLJ11106, SAST	uc001inu.2	Q9NV23	OTTHUMG00000017724	ENST00000378228.3:c.738G>A	10.37:g.15115168G>A						ACBD7_uc010qby.1_Intron|OLAH_uc001int.2_Silent_p.E299E	p.E246E	NM_001039702	NP_001034791	Q9NV23	SAST_HUMAN			8	992	+			246					Q5VUB6|Q9NUW1	Silent	SNP	ENST00000378228.3	37	c.738G>A	CCDS31152.1																																																																																				0.328	OLAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046964.1	NM_018324		33	61	0	0	0	0	33	61				
STAM	8027	broad.mit.edu	37	10	17747604	17747604	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:17747604C>G	ENST00000377524.3	+	12	1288	c.1073C>G	c.(1072-1074)tCa>tGa	p.S358*	STAM_ENST00000540523.1_Nonsense_Mutation_p.S247*	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	358					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TCAGAACTCTCAGAACTTAAT	0.323																																						uc001ipj.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(1072-1074)TCA>TGA		signal transducing adaptor molecule 1							91.0	90.0	90.0					10																	17747604		2202	4300	6502	SO:0001587	stop_gained	8027				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	g.chr10:17747604C>G	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.1073C>G	10.37:g.17747604C>G	ENSP00000366746:p.Ser358*					STAM_uc009xjw.1_Intron	p.S358*	NM_003473	NP_003464	Q92783	STAM1_HUMAN			12	1289	+			358					B0YJ99|D3DRU5|Q8N6D9	Nonsense_Mutation	SNP	ENST00000377524.3	37	c.1073C>G	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	C	40	8.124900	0.98665	.	.	ENSG00000136738	ENST00000377524;ENST00000540523	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-18.014	19.6932	0.96010	0.0:1.0:0.0:0.0	.	.	.	.	X	358;247	.	ENSP00000366746:S358X	S	+	2	0	STAM	17787610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.664000	0.90586	0.655000	0.94253	TCA		0.323	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		4	89	0	0	0	0	4	89				
KIAA1217	56243	broad.mit.edu	37	10	24835129	24835129	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:24835129C>T	ENST00000376454.3	+	21	5738	c.5708C>T	c.(5707-5709)tCc>tTc	p.S1903F	KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S1224F|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S1309F|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S1334F	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1903	Ser-rich. {ECO:0000255}.				embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						cctgcctcctccgtctcACTG	0.542																																						uc001iru.3		NA																	0				ovary(5)|skin(2)	7						c.(5707-5709)TCC>TTC		sickle tail isoform 1							105.0	89.0	95.0					10																	24835129		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24835129C>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.5708C>T	10.37:g.24835129C>T	ENSP00000365637:p.Ser1903Phe					KIAA1217_uc001irs.2_Missense_Mutation_p.S1224F|KIAA1217_uc001irt.3_Missense_Mutation_p.S1269F|KIAA1217_uc010qcy.1_Missense_Mutation_p.S1334F|KIAA1217_uc010qcz.1_Missense_Mutation_p.S1309F|KIAA1217_uc001irw.2_3'UTR|KIAA1217_uc001irz.2_3'UTR|KIAA1217_uc001irx.2_3'UTR|KIAA1217_uc001iry.2_3'UTR	p.S1903F	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN			21	6111	+			1903			Ser-rich.		A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.5708C>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569866	0.45798	.	.	ENSG00000120549	ENST00000376462;ENST00000458595;ENST00000376454;ENST00000376452;ENST00000450158	T;T;T;T	0.31769	1.48;1.48;1.9;1.48	4.51	4.51	0.55191	.	0.070598	0.56097	D	0.000021	T	0.17619	0.0423	N	0.08118	0	0.32473	N	0.542534	P;B;P;P	0.44946	0.786;0.182;0.846;0.786	B;B;B;B	0.37198	0.243;0.016;0.243;0.243	T	0.23048	-1.0199	10	0.87932	D	0	.	16.8539	0.86000	0.0:1.0:0.0:0.0	.	1309;1334;1903;1304	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	F	1224;1309;1903;1334;1492	ENSP00000365645:S1224F;ENSP00000392625:S1309F;ENSP00000365637:S1903F;ENSP00000365635:S1334F	ENSP00000365635:S1334F	S	+	2	0	KIAA1217	24875135	1.000000	0.71417	0.964000	0.40570	0.454000	0.32378	5.649000	0.67936	2.061000	0.61500	0.655000	0.94253	TCC		0.542	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		30	49	0	0	0	0	30	49				
PARD3	56288	broad.mit.edu	37	10	34649066	34649066	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:34649066G>C	ENST00000374789.3	-	13	2154	c.1829C>G	c.(1828-1830)tCa>tGa	p.S610*	PARD3_ENST00000374788.3_Nonsense_Mutation_p.S610*|PARD3_ENST00000544292.1_Nonsense_Mutation_p.S327*|PARD3_ENST00000374794.3_Nonsense_Mutation_p.S553*|PARD3_ENST00000340077.5_Nonsense_Mutation_p.S610*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.S553*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.S610*|PARD3_ENST00000374768.1_Nonsense_Mutation_p.S48*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.S597*|PARD3_ENST00000374776.1_Nonsense_Mutation_p.S597*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.S597*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.S553*|PARD3_ENST00000374773.1_Nonsense_Mutation_p.S610*	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	610	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GTTCTCTTTTGACCGGTTACC	0.433																																						uc010qej.1		NA																	0				ovary(1)	1						c.(1828-1830)TCA>TGA		partitioning-defective protein 3 homolog							148.0	135.0	140.0					10																	34649066		2203	4300	6503	SO:0001587	stop_gained	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34649066G>C	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1829C>G	10.37:g.34649066G>C	ENSP00000363921:p.Ser610*					PARD3_uc010qek.1_Nonsense_Mutation_p.S610*|PARD3_uc010qel.1_Nonsense_Mutation_p.S610*|PARD3_uc010qem.1_Nonsense_Mutation_p.S597*|PARD3_uc010qen.1_Nonsense_Mutation_p.S597*|PARD3_uc010qeo.1_Nonsense_Mutation_p.S597*|PARD3_uc010qep.1_Nonsense_Mutation_p.S553*|PARD3_uc010qeq.1_Nonsense_Mutation_p.S553*|PARD3_uc001ixo.1_Nonsense_Mutation_p.S327*|PARD3_uc001ixp.1_Nonsense_Mutation_p.S475*|PARD3_uc001ixq.1_Nonsense_Mutation_p.S597*|PARD3_uc001ixr.1_Nonsense_Mutation_p.S610*|PARD3_uc001ixt.1_Nonsense_Mutation_p.S431*|PARD3_uc001ixu.1_Nonsense_Mutation_p.S553*|PARD3_uc001ixs.1_Nonsense_Mutation_p.S263*	p.S610*	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN			13	1829	-		Breast(68;0.0707)	610			PDZ 3.		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Nonsense_Mutation	SNP	ENST00000374789.3	37	c.1829C>G	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	G	42	9.595966	0.99214	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292;ENST00000374768	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.3747	0.98911	0.0:0.0:1.0:0.0	.	.	.	.	X	597;553;610;610;610;553;597;553;597;610;610;327;48	.	ENSP00000341844:S610X	S	-	2	0	PARD3	34689072	1.000000	0.71417	0.967000	0.41034	0.762000	0.43233	9.869000	0.99810	2.817000	0.96982	0.563000	0.77884	TCA		0.433	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		37	107	0	0	0	0	37	107				
CSGALNACT2	55454	broad.mit.edu	37	10	43650991	43650991	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:43650991G>C	ENST00000374466.3	+	2	729	c.394G>C	c.(394-396)Gaa>Caa	p.E132Q	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.E132Q	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	132					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGACAAAGCTGAAGTTAGCAT	0.413																																						uc001jan.2		NA																	0				ovary(1)	1						c.(394-396)GAA>CAA		chondroitin sulfate							95.0	85.0	89.0					10																	43650991		2203	4300	6503	SO:0001583	missense	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43650991G>C	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.394G>C	10.37:g.43650991G>C	ENSP00000363590:p.Glu132Gln					CSGALNACT2_uc001jam.1_Missense_Mutation_p.E132Q	p.E132Q	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN			2	729	+			132			Lumenal (Potential).		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	c.394G>C	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569185	0.86439	.	.	ENSG00000169826	ENST00000374466;ENST00000374464	T;T	0.15139	2.45;2.45	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.44787	0.1310	M	0.84082	2.675	0.80722	D	1	D;D	0.54964	0.969;0.961	P;P	0.58660	0.843;0.603	T	0.41106	-0.9527	10	0.72032	D	0.01	-20.9551	20.2245	0.98337	0.0:0.0:1.0:0.0	.	132;132	Q8N6G5;Q8N6G5-2	CGAT2_HUMAN;.	Q	132	ENSP00000363590:E132Q;ENSP00000363588:E132Q	ENSP00000363588:E132Q	E	+	1	0	CSGALNACT2	42970997	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.378000	0.97191	2.861000	0.98227	0.650000	0.86243	GAA		0.413	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		44	63	0	0	0	0	44	63				
ZNF22	7570	broad.mit.edu	37	10	45498928	45498928	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:45498928C>T	ENST00000298299.3	+	2	705	c.112C>T	c.(112-114)Cga>Tga	p.R38*	CEP164P1_ENST00000456938.2_RNA|C10orf25_ENST00000298298.1_5'Flank	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	38					odontogenesis (GO:0042476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R38*(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				CATGACTATTCGATTTGACTC	0.453																																						uc001jbw.2		NA																	1	Substitution - Nonsense(1)		lung(1)	breast(1)|kidney(1)	2						c.(112-114)CGA>TGA		zinc finger protein 22 (KOX 15)							67.0	68.0	68.0					10																	45498928		2203	4300	6503	SO:0001587	stop_gained	7570				odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|plasma membrane	DNA binding|zinc ion binding	g.chr10:45498928C>T	BC041139	CCDS7211.1	10q11	2013-01-08	2012-07-12		ENSG00000165512	ENSG00000165512		"""Zinc fingers, C2H2-type"""	13012	protein-coding gene	gene with protein product		194529					Standard	NM_006963		Approved	KOX15, HKR-T1, ZNF422, Zfp422	uc001jbw.3	P17026	OTTHUMG00000018064	ENST00000298299.3:c.112C>T	10.37:g.45498928C>T	ENSP00000298299:p.Arg38*					C10orf25_uc010qff.1_5'Flank|C10orf25_uc001jbv.1_5'Flank|uc001jbx.1_RNA	p.R38*	NM_006963	NP_008894	P17026	ZNF22_HUMAN			2	355	+		Prostate(175;0.0352)|all_neural(218;0.202)	38					Q5T741|Q96FM4	Nonsense_Mutation	SNP	ENST00000298299.3	37	c.112C>T	CCDS7211.1	.	.	.	.	.	.	.	.	.	.	C	37	6.189860	0.97362	.	.	ENSG00000165512	ENST00000298299	.	.	.	4.94	4.0	0.46444	.	0.377392	0.19327	N	0.116986	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-6.1428	12.4084	0.55453	0.1694:0.8306:0.0:0.0	.	.	.	.	X	38	.	ENSP00000298299:R38X	R	+	1	2	ZNF22	44818934	0.975000	0.34042	0.286000	0.24833	0.158000	0.22134	2.203000	0.42752	1.369000	0.46134	0.655000	0.94253	CGA		0.453	ZNF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047761.1	NM_006963		54	65	0	0	0	0	54	65				
JMJD1C	221037	broad.mit.edu	37	10	64968002	64968002	+	Missense_Mutation	SNP	G	G	C	rs376656512		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:64968002G>C	ENST00000399262.2	-	10	3645	c.3427C>G	c.(3427-3429)Ctt>Gtt	p.L1143V	JMJD1C_ENST00000402544.1_Missense_Mutation_p.L924V|JMJD1C_ENST00000399251.1_Missense_Mutation_p.L924V|JMJD1C_ENST00000542921.1_Missense_Mutation_p.L961V	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1143					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGCTTTGAAAGAGATGTTATA	0.408																																						uc001jmn.2		NA																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(3427-3429)CTT>GTT		jumonji domain containing 1C isoform a							168.0	161.0	163.0					10																	64968002		1926	4137	6063	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64968002G>C	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.3427C>G	10.37:g.64968002G>C	ENSP00000382204:p.Leu1143Val					JMJD1C_uc001jml.2_Missense_Mutation_p.L924V|JMJD1C_uc001jmm.2_Missense_Mutation_p.L855V|JMJD1C_uc010qiq.1_Missense_Mutation_p.L961V|JMJD1C_uc009xpi.2_Missense_Mutation_p.L961V|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.L180V	p.L1143V	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			10	3727	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1143					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.3427C>G	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.172405	0.57584	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.61627	0.44;0.09;1.87;0.45	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.75436	0.3849	M	0.62723	1.935	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.994	T	0.76416	-0.2967	10	0.66056	D	0.02	-13.7699	19.5828	0.95475	0.0:0.0:1.0:0.0	.	684;1143;961	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	V	1143;924;924;961	ENSP00000382204:L1143V;ENSP00000384990:L924V;ENSP00000382195:L924V;ENSP00000444682:L961V	ENSP00000382195:L924V	L	-	1	0	JMJD1C	64638008	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.593000	0.98250	2.621000	0.88768	0.563000	0.77884	CTT		0.408	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		8	319	0	0	0	0	8	319				
STOX1	219736	broad.mit.edu	37	10	70646010	70646010	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:70646010G>A	ENST00000298596.6	+	3	2541	c.2458G>A	c.(2458-2460)Gaa>Aaa	p.E820K	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.E820K|STOX1_ENST00000421961.2_Missense_Mutation_p.E710K	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	820						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CCTCTCTGCTGAAAGTTGTGG	0.483																																						uc001jos.2		NA																	0				kidney(1)|skin(1)	2						c.(2458-2460)GAA>AAA		storkhead box 1 isoform a							103.0	106.0	105.0					10																	70646010		1860	4098	5958	SO:0001583	missense	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70646010G>A	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.2458G>A	10.37:g.70646010G>A	ENSP00000298596:p.Glu820Lys					STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Missense_Mutation_p.E710K	p.E820K	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN			3	2545	+			820					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	c.2458G>A	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634482	0.47049	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.65178	-0.14;-0.14;-0.14	6.17	6.17	0.99709	.	0.457119	0.26300	N	0.025172	T	0.60881	0.2303	L	0.60455	1.87	0.21933	N	0.999463	P	0.43094	0.799	B	0.40228	0.323	T	0.62558	-0.6829	10	0.51188	T	0.08	.	15.4108	0.74917	0.0:0.138:0.862:0.0	.	820	Q6ZVD7	STOX1_HUMAN	K	820;820;710	ENSP00000382121:E820K;ENSP00000298596:E820K;ENSP00000394509:E710K	ENSP00000298596:E820K	E	+	1	0	STOX1	70316016	0.919000	0.31177	0.418000	0.26571	0.558000	0.35554	2.652000	0.46682	2.941000	0.99782	0.655000	0.94253	GAA		0.483	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		56	65	0	0	0	0	56	65				
NRG3	10718	broad.mit.edu	37	10	83635424	83635424	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:83635424C>A	ENST00000404547.1	+	1	328	c.328C>A	c.(328-330)Cag>Aag	p.Q110K	NRG3_ENST00000556918.1_5'Flank|NRG3_ENST00000372141.2_Missense_Mutation_p.Q110K|NRG3_ENST00000404576.2_5'Flank|NRG3_ENST00000372142.2_5'Flank			P56975	NRG3_HUMAN	neuregulin 3	110	Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GGGGATGGGCCAGGACCCCTT	0.642																																						uc001kco.2		NA																	0				lung(5)|breast(1)	6						c.(328-330)CAG>AAG		neuregulin 3 isoform 1							74.0	77.0	76.0					10																	83635424		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:83635424C>A	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.328C>A	10.37:g.83635424C>A	ENSP00000384796:p.Gln110Lys					NRG3_uc010qlz.1_Missense_Mutation_p.Q110K|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank	p.Q110K	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	1	355	+			110			Ser/Thr-rich.|Extracellular (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.328C>A	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	c	21.1	4.092177	0.76756	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287	T;T	0.61980	0.06;0.23	2.97	2.97	0.34412	.	.	.	.	.	T	0.65893	0.2735	L	0.29908	0.895	0.80722	D	1	P;P	0.52577	0.954;0.954	D;D	0.65140	0.932;0.932	T	0.69262	-0.5191	9	0.87932	D	0	-12.5484	11.8419	0.52359	0.0:1.0:0.0:0.0	.	110;110	B9EGV5;P56975-4	.;.	K	110	ENSP00000361214:Q110K;ENSP00000384796:Q110K	ENSP00000361214:Q110K	Q	+	1	0	NRG3	83625404	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.521000	0.73778	1.680000	0.50976	0.459000	0.35465	CAG		0.642	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		24	40	1	0	1.85e-09	1.94e-09	24	40				
PTEN	5728	broad.mit.edu	37	10	89624268	89624268	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:89624268G>T	ENST00000371953.3	+	1	1399	c.42G>T	c.(40-42)agG>agT	p.R14S	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	14	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(13)|p.R14fs*29(1)|p.R14fs*26(1)|p.I8_R14>LRLICIF(1)|p.N12fs*6(1)|p.R14_D22del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GAAACAAAAGGAGATATCAAG	0.478		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		55	Whole gene deletion(37)|Unknown(13)|Deletion - Frameshift(2)|Deletion - In frame(1)|Insertion - Frameshift(1)|Complex - compound substitution(1)	p.?(13)|p.0?(12)|p.R14G(2)|p.R14fs*29(1)|p.R14fs*26(1)|p.I8_R14>LRLICIF(1)|p.R14fs*10(1)|p.N12fs*6(1)|p.R14_D22del(1)	prostate(14)|central_nervous_system(12)|skin(7)|lung(6)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|endometrium(2)|bone(2)|breast(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(40-42)AGG>AGT		phosphatase and tensin homolog							183.0	176.0	178.0					10																	89624268		2203	4300	6503	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89624268G>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.42G>T	10.37:g.89624268G>T	ENSP00000361021:p.Arg14Ser	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				KILLIN_uc009xti.2_5'Flank	p.R14S	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	2	1073	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	14			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.42G>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845458	0.71603	.	.	ENSG00000171862	ENST00000371953	D	0.94758	-3.51	5.05	5.05	0.67936	Phosphatase tensin type (1);	0.049551	0.85682	D	0.000000	D	0.95475	0.8530	M	0.89601	3.045	0.80722	D	1	B	0.26081	0.141	B	0.31016	0.123	D	0.94359	0.7586	9	.	.	.	-0.1019	17.1609	0.86803	0.0:0.0:1.0:0.0	.	14	P60484	PTEN_HUMAN	S	14	ENSP00000361021:R14S	.	R	+	3	2	PTEN	89614248	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.855000	0.69510	2.335000	0.79485	0.561000	0.74099	AGG		0.478	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		61	56	1	0	6.29e-36	6.81e-36	61	56				
PDE6C	5146	broad.mit.edu	37	10	95372755	95372755	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:95372755C>G	ENST00000371447.3	+	1	411	c.273C>G	c.(271-273)ctC>ctG	p.L91L		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	91	GAF 1.				phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	CCCACCTGCTCCAGGCTGACC	0.657																																						uc001kiu.3		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(271-273)CTC>CTG		phosphodiesterase 6C							32.0	33.0	33.0					10																	95372755		2203	4300	6503	SO:0001819	synonymous_variant	5146				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	g.chr10:95372755C>G	U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.273C>G	10.37:g.95372755C>G							p.L91L	NM_006204	NP_006195	P51160	PDE6C_HUMAN			1	411	+		Colorectal(252;0.123)	91			GAF 1.		A6NCR6|Q5VY29	Silent	SNP	ENST00000371447.3	37	c.273C>G	CCDS7429.1																																																																																				0.657	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204		21	32	0	0	0	0	21	32				
CYP2C9	1559	broad.mit.edu	37	10	96701723	96701723	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:96701723G>A	ENST00000260682.6	+	2	289	c.277G>A	c.(277-279)Gag>Aag	p.E93K	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	93					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TCTTGGAGAGGAGTTTTCTGG	0.493																																					Ovarian(54;1266 1406 16072 35076)	uc001kka.3		NA																	0				skin(4)|ovary(2)	6						c.(277-279)GAG>AAG		cytochrome P450, family 2, subfamily C,	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						272.0	261.0	265.0					10																	96701723		2203	4300	6503	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96701723G>A	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.277G>A	10.37:g.96701723G>A	ENSP00000260682:p.Glu93Lys					CYP2C9_uc009xut.2_Missense_Mutation_p.E93K|CYP2C9_uc001kjz.2_Missense_Mutation_p.E93K	p.E93K	NM_000771	NP_000762	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	2	302	+		Colorectal(252;0.0902)	93					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.277G>A	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	14.82	2.649464	0.47362	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.69685	-0.42	3.34	3.34	0.38264	.	0.290655	0.28393	U	0.015510	T	0.73202	0.3557	M	0.73372	2.23	0.41694	D	0.989368	B;B;B	0.31125	0.139;0.139;0.309	B;B;P	0.45037	0.068;0.068;0.467	T	0.77558	-0.2543	10	0.66056	D	0.02	.	12.4947	0.55921	0.0:0.0:1.0:0.0	.	93;93;93	Q5VX92;P11712;Q8WW80	.;CP2C9_HUMAN;.	K	93	ENSP00000260682:E93K	ENSP00000260682:E93K	E	+	1	0	CYP2C9	96691713	1.000000	0.71417	0.948000	0.38648	0.499000	0.33736	6.290000	0.72712	1.840000	0.53500	0.484000	0.47621	GAG		0.493	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		7	256	0	0	0	0	7	256				
MGEA5	10724	broad.mit.edu	37	10	103558920	103558920	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:103558920C>G	ENST00000361464.3	-	9	1883	c.1488G>C	c.(1486-1488)ttG>ttC	p.L496F	MGEA5_ENST00000357797.5_Missense_Mutation_p.L443F|MGEA5_ENST00000370094.3_Missense_Mutation_p.L496F|MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000439817.1_Missense_Mutation_p.L443F	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	496					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CCATTGGTTTCAATTCCTCTG	0.413																																						uc001ktv.2		NA																	0				ovary(2)|skin(1)	3						c.(1486-1488)TTG>TTC		meningioma expressed antigen 5 (hyaluronidase)							409.0	388.0	395.0					10																	103558920		2203	4300	6503	SO:0001583	missense	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103558920C>G	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.1488G>C	10.37:g.103558920C>G	ENSP00000354850:p.Leu496Phe					MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Missense_Mutation_p.L443F|MGEA5_uc009xws.2_Missense_Mutation_p.L443F|MGEA5_uc001ktw.2_Missense_Mutation_p.L496F|MGEA5_uc009xwt.2_Missense_Mutation_p.L259F	p.L496F	NM_012215	NP_036347	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	9	1931	-		Colorectal(252;0.207)	496					B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	ENST00000361464.3	37	c.1488G>C	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849992	0.51270	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094	T;T;T;T	0.33865	1.42;1.41;1.4;1.39	6.06	3.25	0.37280	.	0.000000	0.85682	D	0.000000	T	0.45935	0.1367	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D	0.76494	0.99;0.999;0.994;0.989;0.998	P;D;P;P;P	0.83275	0.731;0.996;0.805;0.772;0.896	T	0.30995	-0.9959	10	0.54805	T	0.06	-10.5069	10.7052	0.45950	0.0:0.6907:0.0:0.3093	.	443;59;443;496;496	E9PGF9;B3KMK2;O60502-2;O60502-3;O60502	.;.;.;.;NCOAT_HUMAN	F	443;496;443;496	ENSP00000409973:L443F;ENSP00000354850:L496F;ENSP00000350445:L443F;ENSP00000359112:L496F	ENSP00000350445:L443F	L	-	3	2	MGEA5	103548910	0.951000	0.32395	1.000000	0.80357	0.956000	0.61745	0.058000	0.14301	0.457000	0.26962	-0.150000	0.13652	TTG		0.413	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		5	477	0	0	0	0	5	477				
CALHM2	51063	broad.mit.edu	37	10	105209672	105209672	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:105209672G>A	ENST00000260743.5	-	3	550	c.27C>T	c.(25-27)ttC>ttT	p.F9F	RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000369788.3_Silent_p.F9F|CALHM2_ENST00000494180.1_5'UTR|RP11-225H22.4_ENST00000411906.1_RNA|CALHM2_ENST00000393235.1_Silent_p.F9F	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	9					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						ACAGGAAGCGGAAGTTCTCTG	0.577																																						uc001kwz.2		NA																	0				skin(1)	1						c.(25-27)TTC>TTT		calcium homeostasis modulator 2							55.0	60.0	59.0					10																	105209672		2161	4258	6419	SO:0001819	synonymous_variant	51063					integral to membrane		g.chr10:105209672G>A	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.27C>T	10.37:g.105209672G>A						CALHM2_uc001kxa.2_Silent_p.F9F|CALHM2_uc001kxc.2_Silent_p.F9F|CALHM2_uc001kxb.2_Silent_p.F9F|CALHM2_uc001kxd.1_Silent_p.F9F	p.F9F	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN			2	413	-			9					D3DR94|O95893|Q6ZUV9	Silent	SNP	ENST00000260743.5	37	c.27C>T	CCDS7549.1																																																																																				0.577	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		68	79	0	0	0	0	68	79				
PNLIPRP2	5408	broad.mit.edu	37	10	118386480	118386480	+	RNA	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:118386480G>C	ENST00000298771.7	+	0	461				PNLIPRP2_ENST00000537242.1_RNA|PNLIPRP2_ENST00000433618.4_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.E146*(2)		endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TGTTGGGGCGGAGACAGCTTT	0.577																																						uc001lcq.2		NA																	2	Substitution - Nonsense(2)		lung(2)	large_intestine(1)	1						c.(439-441)GAG>CAG		pancreatic lipase-related protein 2							76.0	72.0	73.0					10																	118386480		1948	4190	6138			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118386480G>C	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118386480G>C						PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA	p.E147Q	NM_005396	NP_005387	P54317	LIPR2_HUMAN		all cancers(201;0.015)	7	462	+			146					A8K627|Q6IB55	Missense_Mutation	SNP	ENST00000298771.7	37	c.439G>C		.	.	.	.	.	.	.	.	.	.	G	12.36	1.915546	0.33815	.	.	ENSG00000165862	ENST00000537242	D	0.90676	-2.71	5.56	4.64	0.57946	Lipase, N-terminal (1);	0.103446	0.40222	N	0.001159	D	0.87378	0.6162	.	.	.	0.25235	N	0.989797	P	0.38597	0.639	B	0.39027	0.288	T	0.78828	-0.2050	9	0.32370	T	0.25	.	15.2818	0.73790	0.0:0.1413:0.8587:0.0	.	146	P54317	LIPR2_HUMAN	Q	146	ENSP00000446346:E146Q	ENSP00000446346:E146Q	E	+	1	0	PNLIPRP2	118376470	0.999000	0.42202	0.389000	0.26208	0.019000	0.09904	3.116000	0.50399	1.317000	0.45149	0.561000	0.74099	GAG		0.577	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		15	16	0	0	0	0	15	16				
BAG3	9531	broad.mit.edu	37	10	121436717	121436717	+	Nonsense_Mutation	SNP	C	C	T	rs577455773		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:121436717C>T	ENST00000369085.3	+	4	1957	c.1651C>T	c.(1651-1653)Cag>Tag	p.Q551*		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	551					brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		AGAAACCCAGCAGCCAGAAGC	0.552																																						uc001lem.2		NA																	0				ovary(2)	2						c.(1651-1653)CAG>TAG		BCL2-associated athanogene 3							67.0	72.0	71.0					10																	121436717		2203	4300	6503	SO:0001587	stop_gained	9531				anti-apoptosis|apoptosis|protein folding	cytosol		g.chr10:121436717C>T	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.1651C>T	10.37:g.121436717C>T	ENSP00000358081:p.Gln551*					BAG3_uc001lel.2_Nonsense_Mutation_p.Q550*	p.Q551*	NM_004281	NP_004272	O95817	BAG3_HUMAN		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)	4	1957	+		Lung NSC(174;0.109)|all_lung(145;0.142)	551					A8K5L8|Q3B763|Q9NT20|Q9P120	Nonsense_Mutation	SNP	ENST00000369085.3	37	c.1651C>T	CCDS7615.1	.	.	.	.	.	.	.	.	.	.	C	39	7.739124	0.98462	.	.	ENSG00000151929	ENST00000369085	.	.	.	6.03	6.03	0.97812	.	0.599741	0.17241	N	0.181527	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-2.7936	20.5568	0.99304	0.0:1.0:0.0:0.0	.	.	.	.	X	551	.	ENSP00000358081:Q551X	Q	+	1	0	BAG3	121426707	0.658000	0.27402	0.989000	0.46669	0.927000	0.56198	3.602000	0.54066	2.861000	0.98227	0.655000	0.94253	CAG		0.552	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	NM_004281		31	52	0	0	0	0	31	52				
ACADSB	36	broad.mit.edu	37	10	124800176	124800176	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:124800176C>G	ENST00000358776.4	+	4	512	c.498C>G	c.(496-498)ctC>ctG	p.L166L	ACADSB_ENST00000368869.4_Silent_p.L64L|ACADSB_ENST00000496730.2_3'UTR	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	166					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	TGCCTCAGCTCACTACAGAAA	0.358																																						uc001lhb.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(496-498)CTC>CTG		acyl-Coenzyme A dehydrogenase, short/branched	L-Isoleucine(DB00167)						85.0	84.0	84.0					10																	124800176		2203	4300	6503	SO:0001819	synonymous_variant	36				branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding	g.chr10:124800176C>G	U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"""acyl-Coenzyme A dehydrogenase, short/branched chain"""			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.498C>G	10.37:g.124800176C>G						ACADSB_uc010qub.1_Silent_p.L64L	p.L166L	NM_001609	NP_001600	P45954	ACDSB_HUMAN		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	4	615	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	166					B4DQ51|Q5SQN6|Q96CX7	Silent	SNP	ENST00000358776.4	37	c.498C>G	CCDS7634.1																																																																																				0.358	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	NM_001609		58	51	0	0	0	0	58	51				
FAM53B	9679	broad.mit.edu	37	10	126311954	126311954	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:126311954C>T	ENST00000337318.3	-	5	1337	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K	RP11-12J10.3_ENST00000494792.1_Intron|FAM53B_ENST00000392754.3_Missense_Mutation_p.E376K	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	376										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		TCTGACTCCTCACAGGACAGG	0.716																																						uc001lhv.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1126-1128)GAG>AAG		hypothetical protein LOC9679							20.0	21.0	20.0					10																	126311954		2196	4292	6488	SO:0001583	missense	9679							g.chr10:126311954C>T	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.1126G>A	10.37:g.126311954C>T	ENSP00000338532:p.Glu376Lys					FAM53B_uc001lhu.1_Intron	p.E376K	NM_014661	NP_055476	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	5	1649	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	376					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	37	c.1126G>A	CCDS7641.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066698	0.76301	.	.	ENSG00000189319	ENST00000337318;ENST00000392754	.	.	.	5.18	5.18	0.71444	.	0.798861	0.11514	N	0.556403	T	0.53530	0.1802	L	0.36672	1.1	0.80722	D	1	P	0.37330	0.59	B	0.38500	0.275	T	0.54186	-0.8331	9	0.52906	T	0.07	-6.2153	16.0011	0.80292	0.0:1.0:0.0:0.0	.	376	Q14153	FA53B_HUMAN	K	376	.	ENSP00000338532:E376K	E	-	1	0	FAM53B	126301944	0.997000	0.39634	0.878000	0.34440	0.935000	0.57460	4.670000	0.61583	2.688000	0.91661	0.655000	0.94253	GAG		0.716	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		5	29	0	0	0	0	5	29				
CTBP2	1488	broad.mit.edu	37	10	126681775	126681775	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:126681775G>A	ENST00000337195.5	-	9	1434	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	CTBP2_ENST00000531469.1_Silent_p.I345I|CTBP2_ENST00000494626.2_Silent_p.I345I|CTBP2_ENST00000334808.6_Silent_p.I413I|CTBP2_ENST00000411419.2_Silent_p.I345I|CTBP2_ENST00000309035.6_Silent_p.I885I	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	345					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GCTCACCTGTGATGGCTCGGC	0.642																																						uc009yak.2		NA																	0					0						c.(1033-1035)ATC>ATT		C-terminal binding protein 2 isoform 1							23.0	20.0	21.0					10																	126681775		2165	4210	6375	SO:0001819	synonymous_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126681775G>A	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.1035C>T	10.37:g.126681775G>A						CTBP2_uc009yal.2_Silent_p.I345I|CTBP2_uc001lif.3_Silent_p.I345I|CTBP2_uc001lih.3_Silent_p.I345I|CTBP2_uc001lid.3_Silent_p.I413I|CTBP2_uc001lie.3_Silent_p.I885I	p.I345I	NM_001329	NP_001320	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	9	1322	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	345					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.1035C>T	CCDS7643.1																																																																																				0.642	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		9	14	0	0	0	0	9	14				
ADAM12	8038	broad.mit.edu	37	10	127806646	127806646	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:127806646C>G	ENST00000368679.4	-	6	882	c.573G>C	c.(571-573)aaG>aaC	p.K191N	ADAM12_ENST00000368676.4_Missense_Mutation_p.K191N	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	191					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.K191N(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GAAACACATTCTTTGCAGCGA	0.493																																						uc001ljk.2		NA																	3	Substitution - Missense(3)		large_intestine(3)	breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9						c.(571-573)AAG>AAC		ADAM metallopeptidase domain 12 isoform 1							243.0	214.0	224.0					10																	127806646		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127806646C>G	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.573G>C	10.37:g.127806646C>G	ENSP00000357668:p.Lys191Asn					ADAM12_uc010qul.1_Missense_Mutation_p.K188N|ADAM12_uc001ljm.2_Missense_Mutation_p.K191N|ADAM12_uc001ljn.2_Missense_Mutation_p.K188N|ADAM12_uc001ljl.3_Missense_Mutation_p.K188N	p.K191N	NM_003474	NP_003465	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	6	986	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	191					O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.573G>C	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	c	7.303	0.613395	0.14066	.	.	ENSG00000148848	ENST00000368679;ENST00000368676;ENST00000448723	T;T;T	0.23147	4.7;1.92;3.64	4.89	-9.05	0.00730	.	1.915180	0.02528	N	0.093318	T	0.09247	0.0228	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.0;0.001;0.001;0.002;0.0	T	0.16808	-1.0390	10	0.14656	T	0.56	.	3.6441	0.08178	0.2362:0.4473:0.2144:0.1021	.	188;188;191;188;191	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	N	191;191;188	ENSP00000357668:K191N;ENSP00000357665:K191N;ENSP00000391268:K188N	ENSP00000357665:K191N	K	-	3	2	ADAM12	127796636	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.044000	0.00631	-2.091000	0.00858	-0.259000	0.10710	AAG		0.493	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			33	311	0	0	0	0	33	311				
JAKMIP3	282973	broad.mit.edu	37	10	133930805	133930805	+	Silent	SNP	C	C	G	rs559504656	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:133930805C>G	ENST00000298622.4	+	2	498	c.360C>G	c.(358-360)ctC>ctG	p.L120L		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	120						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGGCACTGCTCAGTGCCCTGC	0.612																																						uc001lkx.3		NA																	0				breast(1)	1						c.(358-360)CTC>CTG		Janus kinase and microtubule interacting protein							57.0	72.0	67.0					10																	133930805		2167	4261	6428	SO:0001819	synonymous_variant	282973							g.chr10:133930805C>G	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.360C>G	10.37:g.133930805C>G							p.L120L	NM_001105521	NP_001098991				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	2	360	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	c.360C>G	CCDS44494.1																																																																																				0.612	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		24	29	0	0	0	0	24	29				
TUBGCP2	10844	broad.mit.edu	37	10	135106655	135106655	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:135106655C>T	ENST00000252936.3	-	6	951	c.912G>A	c.(910-912)ctG>ctA	p.L304L	TUBGCP2_ENST00000417178.2_Silent_p.L174L|TUBGCP2_ENST00000368562.1_5'Flank|TUBGCP2_ENST00000368563.2_Silent_p.L304L|RP11-122K13.12_ENST00000424450.1_RNA|TUBGCP2_ENST00000543663.1_Silent_p.L332L			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	304					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		ACACCAGAATCAGGTGCTCCT	0.592																																						uc001lmg.1		NA																	0					0						c.(910-912)CTG>CTA		tubulin, gamma complex associated protein 2							70.0	64.0	66.0					10																	135106655		2203	4300	6503	SO:0001819	synonymous_variant	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135106655C>T	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.912G>A	10.37:g.135106655C>T						TUBGCP2_uc001lmf.1_5'Flank|TUBGCP2_uc010qvc.1_Silent_p.L332L|TUBGCP2_uc009ybk.1_Silent_p.L304L|TUBGCP2_uc010qvd.1_Silent_p.L174L|TUBGCP2_uc001lmh.1_RNA	p.L304L	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	7	1269	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	304					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	ENST00000252936.3	37	c.912G>A	CCDS7676.1																																																																																				0.592	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			53	43	0	0	0	0	53	43				
MTG1	92170	broad.mit.edu	37	10	135212703	135212703	+	Silent	SNP	G	G	C	rs142057422		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:135212703G>C	ENST00000317502.6	+	5	443	c.393G>C	c.(391-393)ggG>ggC	p.G131G	MTG1_ENST00000477902.2_Silent_p.G90G|RP11-108K14.8_ENST00000468317.2_Silent_p.G136G	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	131	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		AACTGATTGGGAGAAGCCACC	0.632																																						uc001lnd.2		NA																	0				skin(1)	1						c.(391-393)GGG>GGC		GTP_binding protein precursor							86.0	73.0	78.0					10																	135212703		2203	4300	6503	SO:0001819	synonymous_variant	92170					mitochondrion	GTP binding|protein binding	g.chr10:135212703G>C		CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"""GTP-binding protein 7"", ""GTP-binding protein 7 (putative)"", ""mitochondrial GTPase 1 homolog (S. cerevisiae)"""	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.393G>C	10.37:g.135212703G>C						MTG1_uc010qve.1_Silent_p.G47G	p.G131G	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)	5	497	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	131					Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Silent	SNP	ENST00000317502.6	37	c.393G>C	CCDS31320.1																																																																																				0.632	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1	NM_138384		29	29	0	0	0	0	29	29				
CYP2E1	1571	broad.mit.edu	37	10	135345198	135345198	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr10:135345198G>C	ENST00000463117.2	+	5	719	c.447G>C	c.(445-447)agG>agC	p.R149S	CYP2E1_ENST00000480558.1_3'UTR|AL161645.2_ENST00000599428.1_5'Flank|SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.R149S			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	149					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GGATCCAGAGGGAGGCCCACT	0.597									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													uc001lnj.1		NA																	0				central_nervous_system(3)	3						c.(445-447)AGG>AGC		cytochrome P450, family 2, subfamily E,	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)						74.0	71.0	72.0					10																	135345198		2203	4300	6503	SO:0001583	missense	1571	Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	g.chr10:135345198G>C	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.447G>C	10.37:g.135345198G>C	ENSP00000440689:p.Arg149Ser					CYP2E1_uc001lnk.1_Missense_Mutation_p.R12S|CYP2E1_uc009ybl.1_Intron|CYP2E1_uc009ybm.1_5'UTR|CYP2E1_uc001lnl.1_5'UTR	p.R149S	NM_000773	NP_000764	P05181	CP2E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	3	480	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	149					Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	c.447G>C	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902785	0.33628	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586	T;T;T	0.67523	-0.27;-0.27;-0.27	5.01	2.09	0.27110	.	0.428750	0.28760	N	0.014228	T	0.44871	0.1314	N	0.13168	0.305	0.34886	D	0.74506	B	0.21753	0.06	B	0.19391	0.025	T	0.50092	-0.8868	10	0.72032	D	0.01	.	6.5	0.22164	0.3646:0.0:0.6354:0.0	.	149	P05181	CP2E1_HUMAN	S	149;149;62	ENSP00000440689:R149S;ENSP00000252945:R149S;ENSP00000412754:R62S	ENSP00000252945:R149S	R	+	3	2	CYP2E1	135195188	1.000000	0.71417	0.972000	0.41901	0.428000	0.31595	1.395000	0.34520	0.784000	0.33661	0.655000	0.94253	AGG		0.597	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		59	72	0	0	0	0	59	72				
SIGIRR	59307	broad.mit.edu	37	11	407115	407115	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:407115G>A	ENST00000431843.2	-	7	981	c.675C>T	c.(673-675)atC>atT	p.I225I	SIGIRR_ENST00000529486.1_5'Flank|SIGIRR_ENST00000382520.2_Silent_p.I225I|SIGIRR_ENST00000397632.3_Silent_p.I225I|SIGIRR_ENST00000531205.1_Silent_p.I225I|SIGIRR_ENST00000332725.3_Silent_p.I225I	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	225	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAAGCACCACGATGAGGCGTC	0.761																																						uc001lpd.2		NA																	0					0						c.(673-675)ATC>ATT		single Ig IL-1R-related molecule							10.0	12.0	11.0					11																	407115		2119	4205	6324	SO:0001819	synonymous_variant	59307				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity	g.chr11:407115G>A		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30575	protein-coding gene	gene with protein product	"""single immunoglobulin domain IL1R1 related"""	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.675C>T	11.37:g.407115G>A						SIGIRR_uc001lpf.2_Silent_p.I225I|SIGIRR_uc001lpe.1_Silent_p.I225I|SIGIRR_uc001lpg.2_Silent_p.I225I	p.I225I	NM_001135054	NP_001128526	Q6IA17	SIGIR_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	7	1005	-		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	225			Cytoplasmic (Potential).|TIR.		Q3KQY2|Q6UXI3|Q9H733	Silent	SNP	ENST00000431843.2	37	c.675C>T	CCDS31325.1																																																																																				0.761	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	NM_021805		5	14	0	0	0	0	5	14				
RNH1	6050	broad.mit.edu	37	11	500607	500607	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:500607G>C	ENST00000534797.1	-	2	1556	c.149C>G	c.(148-150)tCt>tGt	p.S50C	RNH1_ENST00000438658.2_Missense_Mutation_p.S50C|RNH1_ENST00000397615.2_Missense_Mutation_p.S50C|RNH1_ENST00000397614.1_Missense_Mutation_p.S50C|RNH1_ENST00000533410.1_Missense_Mutation_p.S50C|RNH1_ENST00000397604.3_Missense_Mutation_p.S50C|RNH1_ENST00000356187.5_Missense_Mutation_p.S50C|RNH1_ENST00000354420.2_Missense_Mutation_p.S50C|RNH1_ENST00000533592.1_5'Flank			O60930	RNH1_HUMAN	ribonuclease/angiogenin inhibitor 1	0					mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCGAAGTGCAGAGCTGATGTC	0.642																																						uc001lpk.1		NA																	0					0						c.(148-150)TCT>TGT		ribonuclease/angiogenin inhibitor							97.0	69.0	79.0					11																	500607		2202	4300	6502	SO:0001583	missense	6050				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity	g.chr11:500607G>C		CCDS7697.1	11p15.5	2008-02-05	2005-06-01	2005-06-01	ENSG00000023191	ENSG00000023191			10074	protein-coding gene	gene with protein product		173320	"""ribonuclease/angiogenin inhibitor"""	RNH			Standard	NM_203386		Approved	RAI	uc001lpo.1	P13489	OTTHUMG00000119086	ENST00000534797.1:c.149C>G	11.37:g.500607G>C	ENSP00000433999:p.Ser50Cys					RNH1_uc001lpl.1_Missense_Mutation_p.S50C|RNH1_uc001lpm.1_Missense_Mutation_p.S50C|RNH1_uc001lpn.1_Missense_Mutation_p.S50C|RNH1_uc001lpo.1_Missense_Mutation_p.S50C|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Missense_Mutation_p.S50C|RNH1_uc001lpt.1_5'UTR|RNH1_uc001lpq.1_Missense_Mutation_p.S50C|RNH1_uc001lpr.1_Missense_Mutation_p.S50C|RNH1_uc001lps.1_Missense_Mutation_p.S50C|RNH1_uc009ybx.1_Missense_Mutation_p.S50C	p.S50C	NM_203389	NP_976323	P13489	RINI_HUMAN		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	1557	-		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	50			LRR 2.		B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Missense_Mutation	SNP	ENST00000534797.1	37	c.149C>G	CCDS7697.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386742	0.42308	.	.	ENSG00000023191	ENST00000534797;ENST00000397614;ENST00000397615;ENST00000397604;ENST00000533410;ENST00000438658;ENST00000354420;ENST00000356187;ENST00000527485;ENST00000529368;ENST00000529306;ENST00000531149	T;T;T;T;T;T;T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45	3.82	3.82	0.43975	.	0.532850	0.15715	N	0.248202	T	0.72228	0.3434	M	0.83852	2.665	0.45946	D	0.998775	D;D	0.89917	1.0;1.0	D;D	0.79108	0.98;0.992	T	0.71948	-0.4438	10	0.36615	T	0.2	.	12.9169	0.58211	0.0:0.0:1.0:0.0	.	50;50	E9PMN0;P13489	.;RINI_HUMAN	C	50	ENSP00000433999:S50C;ENSP00000380738:S50C;ENSP00000380739:S50C;ENSP00000380729:S50C;ENSP00000435594:S50C;ENSP00000416589:S50C;ENSP00000346402:S50C;ENSP00000348515:S50C;ENSP00000435748:S50C;ENSP00000435057:S50C;ENSP00000434947:S50C;ENSP00000435798:S50C	ENSP00000346402:S50C	S	-	2	0	RNH1	490607	0.034000	0.19679	0.068000	0.19968	0.040000	0.13550	2.262000	0.43285	2.160000	0.67779	0.491000	0.48974	TCT		0.642	RNH1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384301.1	NM_203389		20	60	0	0	0	0	20	60				
LMNTD2	256329	broad.mit.edu	37	11	558713	558713	+	Missense_Mutation	SNP	C	C	T	rs148047813		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:558713C>T	ENST00000329451.3	-	3	274	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	RASSF7_ENST00000431809.1_5'Flank|RASSF7_ENST00000344375.4_5'Flank|RASSF7_ENST00000397582.3_5'Flank|RP11-496I9.1_ENST00000527620.1_RNA|RASSF7_ENST00000454668.2_5'Flank|RASSF7_ENST00000397583.3_5'Flank|RP11-496I9.1_ENST00000527113.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		71										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCCAGTTCTCGCTGTCTCCA	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		15595	0.001		0.0	False		,,,				2504	0.0					uc001lpx.2		NA																	0				pancreas(1)	1						c.(211-213)CGA>CAA		hypothetical protein LOC256329		C	GLN/ARG	2,4392		0,2,2195	23.0	26.0	25.0		212	2.0	0.5	11	dbSNP_134	25	1,8585		0,1,4292	yes	missense	C11orf35	NM_173573.2	43	0,3,6487	TT,TC,CC		0.0116,0.0455,0.0231	benign	71/635	558713	3,12977	2197	4293	6490	SO:0001583	missense	256329							g.chr11:558713C>T																												ENST00000329451.3:c.212G>A	11.37:g.558713C>T	ENSP00000331167:p.Arg71Gln					uc001lpy.2_RNA|uc001lpz.2_5'Flank|RASSF7_uc001lqa.2_5'Flank|RASSF7_uc001lqb.2_5'Flank|RASSF7_uc001lqc.2_5'Flank|RASSF7_uc001lqd.2_5'Flank	p.R71Q	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	275	-		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	71						Missense_Mutation	SNP	ENST00000329451.3	37	c.212G>A	CCDS7701.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.99	2.102709	0.37145	4.55E-4	1.16E-4	ENSG00000185522	ENST00000329451;ENST00000441853;ENST00000486629	T;T;T	0.58210	0.35;0.44;0.49	3.99	2.05	0.26809	.	0.206216	0.22950	N	0.053670	T	0.24509	0.0594	N	0.17082	0.46	0.09310	N	1	P	0.47910	0.902	B	0.29663	0.105	T	0.16571	-1.0398	10	0.42905	T	0.14	-15.5361	6.5379	0.22365	0.0:0.766:0.0:0.234	.	71	Q8IXW0	CK035_HUMAN	Q	71;78;81	ENSP00000331167:R71Q;ENSP00000393529:R78Q;ENSP00000435529:R81Q	ENSP00000331167:R71Q	R	-	2	0	C11orf35	548713	0.002000	0.14202	0.464000	0.27143	0.653000	0.38743	0.364000	0.20325	0.914000	0.36822	0.462000	0.41574	CGA		0.672	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2			10	8	0	0	0	0	10	8				
DEAF1	10522	broad.mit.edu	37	11	691546	691546	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:691546G>A	ENST00000382409.3	-	2	826	c.342C>T	c.(340-342)ttC>ttT	p.F114F	DEAF1_ENST00000338675.6_Silent_p.F114F	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	114	Ala-rich.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CAGACGTGGTGAAGACATTGT	0.592																																						uc001lqq.1		NA																	0					0						c.(340-342)TTC>TTT		deformed epidermal autoregulatory factor 1							99.0	81.0	87.0					11																	691546		2203	4300	6503	SO:0001819	synonymous_variant	10522				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	g.chr11:691546G>A	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.342C>T	11.37:g.691546G>A							p.F114F	NM_021008	NP_066288	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	2	1035	-		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	114			Ala-rich.		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Silent	SNP	ENST00000382409.3	37	c.342C>T	CCDS31327.1																																																																																				0.592	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		15	42	0	0	0	0	15	42				
CTSD	1509	broad.mit.edu	37	11	1774754	1774754	+	Silent	SNP	G	G	A	rs199603943		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:1774754G>A	ENST00000236671.2	-	9	1350	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	IFITM10_ENST00000340134.4_5'Flank|RP11-295K3.1_ENST00000427721.1_Intron	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	406					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CAGCCTCGGCGAAGCCCACCC	0.667																																						uc001luc.1		NA																	0					0						c.(1216-1218)TTC>TTT		cathepsin D preproprotein	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	G		1,4403	2.1+/-5.4	0,1,2201	46.0	52.0	50.0		1218	-3.9	0.5	11		50	0,8598		0,0,4299	no	coding-synonymous	CTSD	NM_001909.4		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		406/413	1774754	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	1509				cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	g.chr11:1774754G>A	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"""Cathepsins"""	2529	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 10"""	116840	"""cathepsin D (lysosomal aspartyl protease)"""	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.1218C>T	11.37:g.1774754G>A						uc001lub.1_5'Flank|CTSD_uc009yda.1_RNA	p.F406F	NM_001909	NP_001900	P07339	CATD_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	9	1351	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	406					Q6IB57	Silent	SNP	ENST00000236671.2	37	c.1218C>T	CCDS7725.1																																																																																				0.667	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		19	64	0	0	0	0	19	64				
RRM1	6240	broad.mit.edu	37	11	4132854	4132854	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:4132854G>T	ENST00000300738.5	+	6	675	c.471G>T	c.(469-471)ttG>ttT	p.L157F	RRM1_ENST00000423050.2_Missense_Mutation_p.L60F	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	157					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	CTTATTTGTTGAAGATCAATG	0.328																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	uc001lyw.3		NA																	0				skin(1)	1						c.(469-471)TTG>TTT		ribonucleoside-diphosphate reductase M1 chain	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)						128.0	130.0	129.0					11																	4132854		2201	4298	6499	SO:0001583	missense	6240				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	g.chr11:4132854G>T	X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.471G>T	11.37:g.4132854G>T	ENSP00000300738:p.Leu157Phe					RRM1_uc009yeh.1_Missense_Mutation_p.L60F|RRM1_uc009yei.2_Missense_Mutation_p.L117F|RRM1_uc010qyc.1_Missense_Mutation_p.L60F	p.L157F	NM_001033	NP_001024	P23921	RIR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	6	790	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	157					Q9UNN2	Missense_Mutation	SNP	ENST00000300738.5	37	c.471G>T	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492904	0.64074	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894	T;T	0.39056	1.1;1.12	5.65	5.65	0.86999	Ribonucleotide reductase large subunit, N-terminal (1);Ribonucleoside-diphosphate reductase, alpha subunit (1);Ribonucleotide reductase R1 subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56232	0.1971	M	0.94063	3.49	0.80722	D	1	P	0.42456	0.78	B	0.41666	0.363	T	0.66551	-0.5895	10	0.52906	T	0.07	-7.7363	12.0857	0.53695	0.0783:0.0:0.9217:0.0	.	157	P23921	RIR1_HUMAN	F	157;60;70	ENSP00000300738:L157F;ENSP00000390539:L60F	ENSP00000300738:L157F	L	+	3	2	RRM1	4089430	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.464000	0.53057	2.652000	0.90054	0.655000	0.94253	TTG		0.328	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		29	77	1	0	4.32e-19	4.6e-19	29	77				
OR52A4	390053	broad.mit.edu	37	11	5142422	5142422	+	RNA	SNP	C	C	T	rs527354089		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:5142422C>T	ENST00000498233.1	-	0	976							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GATAACAGATCGCTACACAGC	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20700	0.0		0.0	False		,,,				2504	0.0					uc001lzz.1		NA																	0				ovary(2)	2						c.(385-387)GCG>GCA		olfactory receptor, family 52, subfamily A,							67.0	60.0	63.0					11																	5142422		2201	4298	6499			390053							g.chr11:5142422C>T			11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"""GPCR / Class A : Olfactory receptors"""	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142422C>T						OR52A4_uc001maa.2_RNA	p.A129A	NM_001005222	NP_001005222				Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	387	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)							Silent	SNP	ENST00000498233.1	37	c.387G>A																																																																																					0.463	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1	NG_029079		21	44	0	0	0	0	21	44				
TRIM5	85363	broad.mit.edu	37	11	5701231	5701231	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:5701231C>G	ENST00000380034.3	-	2	433	c.177G>C	c.(175-177)cgG>cgC	p.R59R	TRIM5_ENST00000396853.4_Silent_p.R59R|TRIM5_ENST00000396847.3_Silent_p.R59R|TRIM5_ENST00000483835.1_5'Flank|TRIM5_ENST00000305836.5_Silent_p.R59R|TRIM5_ENST00000380027.1_Silent_p.R59R|TRIM5_ENST00000396855.3_Silent_p.R59R	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	59					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|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)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GGTAACTGATCCGGCACACAG	0.547																																						uc001mbm.1		NA																	0				ovary(1)	1						c.(175-177)CGG>CGC		tripartite motif protein TRIM5 isoform alpha							150.0	130.0	137.0					11																	5701231		2201	4297	6498	SO:0001819	synonymous_variant	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5701231C>G	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.177G>C	11.37:g.5701231C>G						TRIM5_uc001mbq.1_Silent_p.R59R|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Silent_p.R59R|TRIM5_uc001mbo.2_Silent_p.R59R|TRIM5_uc001mbp.2_Silent_p.R59R	p.R59R	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	2	434	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	59			RING-type.		A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Silent	SNP	ENST00000380034.3	37	c.177G>C	CCDS31393.1																																																																																				0.547	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		6	234	0	0	0	0	6	234				
DNHD1	144132	broad.mit.edu	37	11	6519765	6519765	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:6519765T>G	ENST00000527990.2	+	1	320	c.320T>G	c.(319-321)tTc>tGc	p.F107C	DNHD1_ENST00000354685.3_Missense_Mutation_p.F107C|DNHD1_ENST00000254579.6_Missense_Mutation_p.F107C|DNHD1_ENST00000477562.1_3'UTR			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	107					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TTGCTGCCCTTCCTGGAGCAG	0.567																																						uc001mdw.3		NA																	0				ovary(2)	2						c.(319-321)TTC>TGC		dynein heavy chain domain 1 isoform 1							139.0	122.0	128.0					11																	6519765		2201	4296	6497	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6519765T>G	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.320T>G	11.37:g.6519765T>G	ENSP00000436180:p.Phe107Cys					DNHD1_uc001mdp.2_Missense_Mutation_p.F107C	p.F107C	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	3	884	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	107					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.320T>G	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.061398	0.76187	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.34472	1.36;2.3;1.36	5.33	5.33	0.75918	.	0.185643	0.38897	N	0.001538	T	0.43055	0.1230	L	0.29908	0.895	0.34184	D	0.671243	D;D	0.67145	0.992;0.996	P;P	0.59288	0.707;0.855	T	0.59198	-0.7499	10	0.87932	D	0	.	12.8279	0.57731	0.0:0.0:0.0:1.0	.	107;107	Q96M86;Q96M86-4	DNHD1_HUMAN;.	C	107	ENSP00000254579:F107C;ENSP00000346716:F107C;ENSP00000436180:F107C	ENSP00000254579:F107C	F	+	2	0	DNHD1	6476341	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.518000	0.45537	2.012000	0.59069	0.460000	0.39030	TTC		0.567	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		6	306	0	0	0	0	6	306				
DNHD1	144132	broad.mit.edu	37	11	6587845	6587845	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:6587845G>C	ENST00000527990.2	+	33	11235	c.11235G>C	c.(11233-11235)ctG>ctC	p.L3745L	DNHD1_ENST00000254579.6_Silent_p.L3745L			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3745					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TAAAGGGGCTGAATGTGTTGG	0.512																																						uc001mdw.3		NA																	0				ovary(2)	2						c.(11233-11235)CTG>CTC		dynein heavy chain domain 1 isoform 1							102.0	101.0	101.0					11																	6587845		1975	4180	6155	SO:0001819	synonymous_variant	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6587845G>C	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.11235G>C	11.37:g.6587845G>C						DNHD1_uc001mea.3_Silent_p.L14L|DNHD1_uc001meb.2_Silent_p.L13L|DNHD1_uc001mec.2_Silent_p.L13L|DNHD1_uc010rao.1_Silent_p.L13L|DNHD1_uc009yfg.2_5'Flank	p.L3745L	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	35	11799	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	3745					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Silent	SNP	ENST00000527990.2	37	c.11235G>C	CCDS44532.1																																																																																				0.512	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		9	28	0	0	0	0	9	28				
OR10A5	144124	broad.mit.edu	37	11	6866955	6866955	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:6866955C>T	ENST00000299454.4	+	1	73	c.42C>T	c.(40-42)ctC>ctT	p.L14L	OR10A5_ENST00000379831.2_Silent_p.L18L			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	14					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	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(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AATTTATCCTCATGAGCTTCT	0.413																																					Pancreas(44;21 1072 25662 28041 45559)	uc001met.1		NA																	0				skin(2)|ovary(1)	3						c.(40-42)CTC>CTT		olfactory receptor, family 10, subfamily A,							168.0	176.0	173.0					11																	6866955		2201	4296	6497	SO:0001819	synonymous_variant	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6866955C>T	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.42C>T	11.37:g.6866955C>T							p.L14L	NM_178168	NP_835462	Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	42	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	14			Extracellular (Potential).		O95223|Q52M66|Q96R21|Q96R22	Silent	SNP	ENST00000299454.4	37	c.42C>T	CCDS7773.1																																																																																				0.413	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		7	484	0	0	0	0	7	484				
OR10A5	144124	broad.mit.edu	37	11	6867662	6867662	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:6867662C>G	ENST00000299454.4	+	1	780	c.749C>G	c.(748-750)tCt>tGt	p.S250C	OR10A5_ENST00000379831.2_Missense_Mutation_p.S254C			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	250					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	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(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTTGTTGTCTCTCTTTTCTAT	0.423																																					Pancreas(44;21 1072 25662 28041 45559)	uc001met.1		NA																	0				skin(2)|ovary(1)	3						c.(748-750)TCT>TGT		olfactory receptor, family 10, subfamily A,							212.0	199.0	203.0					11																	6867662		2201	4296	6497	SO:0001583	missense	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6867662C>G	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.749C>G	11.37:g.6867662C>G	ENSP00000299454:p.Ser250Cys						p.S250C	NM_178168	NP_835462	Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	749	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	250			Helical; Name=6; (Potential).		O95223|Q52M66|Q96R21|Q96R22	Missense_Mutation	SNP	ENST00000299454.4	37	c.749C>G	CCDS7773.1	.	.	.	.	.	.	.	.	.	.	.	5.688	0.311501	0.10789	.	.	ENSG00000166363	ENST00000299454;ENST00000379831	T;T	0.38077	1.16;1.16	3.59	2.65	0.31530	GPCR, rhodopsin-like superfamily (1);	0.104811	0.43260	D	0.000585	T	0.32133	0.0819	L	0.39566	1.225	0.31456	N	0.670124	B	0.29481	0.245	B	0.37346	0.247	T	0.40194	-0.9576	10	0.46703	T	0.11	.	9.7857	0.40675	0.0:0.5863:0.4137:0.0	.	250	Q9H207	O10A5_HUMAN	C	250;254	ENSP00000299454:S250C;ENSP00000369159:S254C	ENSP00000299454:S250C	S	+	2	0	OR10A5	6824238	0.000000	0.05858	1.000000	0.80357	0.126000	0.20510	0.227000	0.17795	1.019000	0.39547	0.591000	0.81541	TCT		0.423	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		102	310	0	0	0	0	102	310				
RBMXL2	27288	broad.mit.edu	37	11	7111102	7111102	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:7111102G>A	ENST00000306904.5	+	1	938	c.751G>A	c.(751-753)Gac>Aac	p.D251N		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	251	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGTCCGGGACGACTGTCCCTT	0.642																																						uc001mfc.2		NA																	0					0						c.(751-753)GAC>AAC		testes-specific heterogenous nuclear							24.0	27.0	26.0					11																	7111102		2192	4291	6483	SO:0001583	missense	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111102G>A	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.751G>A	11.37:g.7111102G>A	ENSP00000304139:p.Asp251Asn						p.D251N	NM_014469	NP_055284	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	938	+			251			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	37	c.751G>A	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052811	0.55218	.	.	ENSG00000170748	ENST00000306904	T	0.77358	-1.09	3.08	3.08	0.35506	.	0.253960	0.37906	U	0.001898	T	0.70439	0.3224	L	0.46157	1.445	0.31713	N	0.639245	D	0.60575	0.988	B	0.42245	0.381	T	0.78650	-0.2121	10	0.87932	D	0	.	12.3749	0.55275	0.0:0.0:1.0:0.0	.	251	O75526	HNRGT_HUMAN	N	251	ENSP00000304139:D251N	ENSP00000304139:D251N	D	+	1	0	RBMXL2	7067678	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	4.486000	0.60286	2.015000	0.59207	0.467000	0.42956	GAC		0.642	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		13	28	0	0	0	0	13	28				
MICAL2	9645	broad.mit.edu	37	11	12183923	12183923	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:12183923C>T	ENST00000256194.4	+	3	509	c.221C>T	c.(220-222)tCc>tTc	p.S74F	MICAL2_ENST00000527546.1_Missense_Mutation_p.S74F|MICAL2_ENST00000342902.5_Missense_Mutation_p.S74F|MICAL2_ENST00000537344.1_Missense_Mutation_p.S74F|MICAL2_ENST00000379612.3_Missense_Mutation_p.S74F	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	74	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AAGCGTGGTTCCCACAAAGAG	0.502																																						uc001mjz.2		NA																	0				upper_aerodigestive_tract(2)	2						c.(220-222)TCC>TTC		microtubule associated monoxygenase, calponin							68.0	64.0	65.0					11																	12183923		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12183923C>T	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.221C>T	11.37:g.12183923C>T	ENSP00000256194:p.Ser74Phe					MICAL2_uc010rch.1_Missense_Mutation_p.S74F|MICAL2_uc001mjy.2_Missense_Mutation_p.S74F|MICAL2_uc001mka.2_Missense_Mutation_p.S74F|MICAL2_uc010rci.1_Missense_Mutation_p.S74F|MICAL2_uc001mkb.2_Missense_Mutation_p.S74F|MICAL2_uc001mkc.2_Missense_Mutation_p.S74F	p.S74F	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	3	509	+			74					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.221C>T	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935187	0.73442	.	.	ENSG00000133816	ENST00000537344;ENST00000532179;ENST00000526065;ENST00000256194;ENST00000532420;ENST00000527546;ENST00000342902;ENST00000524685;ENST00000525119;ENST00000533389;ENST00000379612	T;T;T;T;T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.55	5.55	0.83447	.	0.470987	0.21641	N	0.071333	T	0.38585	0.1046	M	0.65975	2.015	0.37193	D	0.904032	D;P;P;P;P;P	0.53619	0.961;0.894;0.508;0.779;0.874;0.793	P;B;P;B;P;B	0.50617	0.646;0.443;0.513;0.443;0.513;0.41	T	0.43261	-0.9402	10	0.87932	D	0	.	12.9004	0.58123	0.0:0.7933:0.2067:0.0	.	74;74;74;74;74;74	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851;B4DGZ0	.;.;.;.;MICA2_HUMAN;.	F	74	ENSP00000441689:S74F;ENSP00000434209:S74F;ENSP00000435270:S74F;ENSP00000256194:S74F;ENSP00000433818:S74F;ENSP00000433965:S74F;ENSP00000344894:S74F;ENSP00000437229:S74F;ENSP00000433509:S74F;ENSP00000433357:S74F;ENSP00000368932:S74F	ENSP00000256194:S74F	S	+	2	0	MICAL2	12140499	0.998000	0.40836	1.000000	0.80357	0.974000	0.67602	4.168000	0.58216	2.894000	0.99253	0.655000	0.94253	TCC		0.502	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		11	49	0	0	0	0	11	49				
HPS5	11234	broad.mit.edu	37	11	18318449	18318449	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:18318449G>C	ENST00000349215.3	-	12	1683	c.1406C>G	c.(1405-1407)tCc>tGc	p.S469C	HPS5_ENST00000531848.1_Missense_Mutation_p.S355C|HPS5_ENST00000438420.2_Missense_Mutation_p.S355C|HPS5_ENST00000396253.3_Missense_Mutation_p.S355C|HPS5_ENST00000352460.3_5'Flank	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	469					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GCTGTGAAGGGAGCAAGAGTC	0.418									Hermansky-Pudlak syndrome																													uc001mod.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1405-1407)TCC>TGC		Hermansky-Pudlak syndrome 5 isoform a							126.0	114.0	118.0					11																	18318449		2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18318449G>C	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.1406C>G	11.37:g.18318449G>C	ENSP00000265967:p.Ser469Cys					HPS5_uc001moe.1_Missense_Mutation_p.S355C|HPS5_uc001mof.1_Missense_Mutation_p.S355C	p.S469C	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN			12	1684	-			469					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.1406C>G	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542021	0.85917	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000531848	T;T;T;T	0.67345	-0.26;-0.26;-0.23;1.05	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.81828	0.4905	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82464	-0.0444	10	0.72032	D	0.01	.	19.8493	0.96733	0.0:0.0:1.0:0.0	.	469	Q9UPZ3	HPS5_HUMAN	C	355;355;469;355	ENSP00000379552:S355C;ENSP00000399590:S355C;ENSP00000265967:S469C;ENSP00000431758:S355C	ENSP00000265967:S469C	S	-	2	0	HPS5	18275025	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.701000	0.92244	0.563000	0.77884	TCC		0.418	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		64	181	0	0	0	0	64	181				
SPTY2D1	144108	broad.mit.edu	37	11	18655767	18655767	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:18655767C>G	ENST00000336349.5	-	1	273	c.38G>C	c.(37-39)gGa>gCa	p.G13A	SPTY2D1_ENST00000543776.1_Intron	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	13										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						GACACCTTGTCCCTTGGAAGC	0.547																																						uc001moy.2		NA																	0				breast(1)	1						c.(37-39)GGA>GCA		SPT2, Suppressor of Ty, domain containing 1							195.0	176.0	182.0					11																	18655767		2199	4293	6492	SO:0001583	missense	144108							g.chr11:18655767C>G	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.38G>C	11.37:g.18655767C>G	ENSP00000337991:p.Gly13Ala					SPTY2D1_uc010rdi.1_Missense_Mutation_p.G13A	p.G13A	NM_194285	NP_919261	Q68D10	SPT2_HUMAN			1	254	-			13					Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	37	c.38G>C	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.416238	0.25552	.	.	ENSG00000179119	ENST00000336349;ENST00000333429	T	0.26067	1.76	5.65	3.66	0.41972	.	0.443166	0.26075	N	0.026497	T	0.17109	0.0411	L	0.36672	1.1	0.34043	D	0.655272	B	0.16166	0.016	B	0.15484	0.013	T	0.13255	-1.0516	10	0.28530	T	0.3	-12.5927	6.2082	0.20613	0.0:0.6872:0.21:0.1028	.	13	Q68D10	SPT2_HUMAN	A	13	ENSP00000337991:G13A	ENSP00000331447:G13A	G	-	2	0	SPTY2D1	18612343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.660000	0.25009	1.629000	0.50426	0.655000	0.94253	GGA		0.547	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		72	269	0	0	0	0	72	269				
MRGPRX1	259249	broad.mit.edu	37	11	18955404	18955404	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:18955404C>G	ENST00000302797.3	-	1	1152	c.928G>C	c.(928-930)Gag>Cag	p.E310Q	MRGPRX1_ENST00000526914.1_5'Flank|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	310				EEI -> QET (in Ref. 2; AAL86880). {ECO:0000305}.	acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGATTTCCTCAGGAAGCTGC	0.572																																						uc001mpg.2		NA																	0				pancreas(2)|central_nervous_system(1)	3						c.(928-930)GAG>CAG		MAS-related GPR, member X1							71.0	66.0	68.0					11																	18955404		2194	4285	6479	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955404C>G		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.928G>C	11.37:g.18955404C>G	ENSP00000305766:p.Glu310Gln						p.E310Q	NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN			1	1146	-			310	EEI -> QET (in Ref. 2; AAL86880).		Cytoplasmic (Potential).		Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.928G>C	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.706956	0.00719	.	.	ENSG00000170255	ENST00000302797	T	0.19532	2.14	2.14	1.19	0.21007	.	1.497640	0.04048	N	0.304272	T	0.08626	0.0214	N	0.03983	-0.305	0.23563	N	0.997403	B	0.06786	0.001	B	0.08055	0.003	T	0.27157	-1.0082	10	0.06494	T	0.89	.	6.4924	0.22123	0.0:0.3372:0.6628:0.0	.	310	Q96LB2	MRGX1_HUMAN	Q	310	ENSP00000305766:E310Q	ENSP00000305766:E310Q	E	-	1	0	MRGPRX1	18911980	0.000000	0.05858	0.095000	0.20976	0.016000	0.09150	-0.174000	0.09839	0.441000	0.26529	-0.479000	0.04858	GAG		0.572	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		40	83	0	0	0	0	40	83				
MRGPRX1	259249	broad.mit.edu	37	11	18956074	18956074	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:18956074G>T	ENST00000302797.3	-	1	482	c.258C>A	c.(256-258)agC>agA	p.S86R	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	86					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TACTGATGAAGCTTAACAGGG	0.522																																						uc001mpg.2		NA																	0				pancreas(2)|central_nervous_system(1)	3						c.(256-258)AGC>AGA		MAS-related GPR, member X1							136.0	137.0	137.0					11																	18956074		2194	4286	6480	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18956074G>T		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.258C>A	11.37:g.18956074G>T	ENSP00000305766:p.Ser86Arg						p.S86R	NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN			1	476	-			86			Helical; Name=2; (Potential).		Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.258C>A	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	1.304	-0.603946	0.03717	.	.	ENSG00000170255	ENST00000302797	T	0.10192	2.9	2.04	-2.73	0.05950	GPCR, rhodopsin-like superfamily (1);	4.640310	0.00166	N	0.000001	T	0.03783	0.0107	N	0.02802	-0.49	0.09310	N	1	B	0.02656	0.0	B	0.12837	0.008	T	0.27773	-1.0064	10	0.19147	T	0.46	.	0.603	0.00748	0.1797:0.1634:0.3077:0.3493	.	86	Q96LB2	MRGX1_HUMAN	R	86	ENSP00000305766:S86R	ENSP00000305766:S86R	S	-	3	2	MRGPRX1	18912650	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.189000	0.00565	-0.628000	0.05582	0.491000	0.48974	AGC		0.522	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		46	135	1	0	4.22e-32	4.54e-32	46	135				
SLC6A5	9152	broad.mit.edu	37	11	20658825	20658825	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:20658825C>G	ENST00000525748.1	+	12	2118	c.1845C>G	c.(1843-1845)atC>atG	p.I615M	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	615					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GTTTCTTCATCATGGGTTTTC	0.532																																						uc001mqd.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(1843-1845)ATC>ATG		solute carrier family 6 (neurotransmitter	Glycine(DB00145)						134.0	124.0	127.0					11																	20658825		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20658825C>G	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1845C>G	11.37:g.20658825C>G	ENSP00000434364:p.Ile615Met					SLC6A5_uc009yic.2_Missense_Mutation_p.I380M	p.I615M	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN			12	2118	+			615			Helical; Name=9; (Potential).		O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.1845C>G	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869555	0.72065	.	.	ENSG00000165970	ENST00000525748	T	0.75050	-0.9	5.67	2.7	0.31948	.	0.214759	0.48767	D	0.000176	T	0.78635	0.4314	L	0.56769	1.78	0.58432	D	0.999996	P	0.52463	0.953	P	0.62649	0.905	T	0.76761	-0.2840	10	0.72032	D	0.01	.	5.6072	0.17387	0.137:0.6467:0.0:0.2163	.	615	Q9Y345	SC6A5_HUMAN	M	615	ENSP00000434364:I615M	ENSP00000434364:I615M	I	+	3	3	SLC6A5	20615401	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.119000	0.31258	0.710000	0.31997	0.655000	0.94253	ATC		0.532	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		32	85	0	0	0	0	32	85				
SLC5A12	159963	broad.mit.edu	37	11	26700349	26700349	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:26700349C>T	ENST00000396005.3	-	13	1798	c.1489G>A	c.(1489-1491)Gat>Aat	p.D497N		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	497					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TACCAGGTATCAGCTATTCCA	0.468																																						uc001mra.2		NA																	0				ovary(1)|skin(1)	2						c.(1489-1491)GAT>AAT		solute carrier family 5 (sodium/glucose							114.0	112.0	113.0					11																	26700349		1981	4170	6151	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26700349C>T	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.1489G>A	11.37:g.26700349C>T	ENSP00000379326:p.Asp497Asn					SLC5A12_uc001mrb.2_RNA	p.D497N	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN			13	1802	-			497			Extracellular (Potential).		Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.1489G>A	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	C	13.87	2.366186	0.41902	.	.	ENSG00000148942	ENST00000396005	T	0.68181	-0.31	5.95	5.05	0.67936	.	0.257047	0.28425	U	0.015390	T	0.63343	0.2503	L	0.55990	1.75	0.80722	D	1	B	0.17667	0.023	B	0.21546	0.035	T	0.60434	-0.7264	10	0.44086	T	0.13	.	14.057	0.64776	0.0:0.9268:0.0:0.0732	.	497	Q1EHB4	SC5AC_HUMAN	N	497	ENSP00000379326:D497N	ENSP00000379326:D497N	D	-	1	0	SLC5A12	26656925	1.000000	0.71417	0.946000	0.38457	0.321000	0.28281	5.863000	0.69568	1.534000	0.49203	0.655000	0.94253	GAT		0.468	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		25	81	0	0	0	0	25	81				
KIF18A	81930	broad.mit.edu	37	11	28045380	28045380	+	Missense_Mutation	SNP	G	G	A	rs369809315		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:28045380G>A	ENST00000263181.6	-	16	2812	c.2522C>T	c.(2521-2523)tCg>tTg	p.S841L		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	841					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TGCAGTTAACGAACTGTTTGA	0.328																																						uc001msc.2		NA																	0				ovary(2)	2						c.(2521-2523)TCG>TTG		kinesin family member 18A		G	LEU/SER	0,4402		0,0,2201	107.0	97.0	100.0		2522	1.4	0.0	11		100	2,8596	2.2+/-6.3	0,2,4297	no	missense	KIF18A	NM_031217.3	145	0,2,6498	AA,AG,GG		0.0233,0.0,0.0154	benign	841/899	28045380	2,12998	2201	4299	6500	SO:0001583	missense	81930				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	g.chr11:28045380G>A	AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.2522C>T	11.37:g.28045380G>A	ENSP00000263181:p.Ser841Leu						p.S841L	NM_031217	NP_112494	Q8NI77	KI18A_HUMAN			16	2704	-			841					Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	c.2522C>T	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	G	4.725	0.134780	0.09032	0.0	2.33E-4	ENSG00000121621	ENST00000263181	T	0.72505	-0.66	5.56	1.39	0.22231	.	0.986072	0.08280	N	0.970097	T	0.57710	0.2072	L	0.32530	0.975	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.42032	-0.9475	10	0.33940	T	0.23	.	7.5608	0.27849	0.3769:0.0:0.6231:0.0	.	841	Q8NI77	KI18A_HUMAN	L	841	ENSP00000263181:S841L	ENSP00000263181:S841L	S	-	2	0	KIF18A	28001956	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	0.315000	0.19451	0.058000	0.16222	-0.137000	0.14449	TCG		0.328	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		23	73	0	0	0	0	23	73				
KCNA4	3739	broad.mit.edu	37	11	30033388	30033388	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:30033388C>T	ENST00000328224.6	-	2	2071	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	280					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GCCCTGTCTTCCTCTTCTCTC	0.507																																						uc001msk.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(838-840)GAA>AAA		potassium voltage-gated channel, shaker-related							57.0	54.0	55.0					11																	30033388		1892	4120	6012	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033388C>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.838G>A	11.37:g.30033388C>T	ENSP00000328511:p.Glu280Lys						p.E280K	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	1990	-			280						Missense_Mutation	SNP	ENST00000328224.6	37	c.838G>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523677	0.64747	.	.	ENSG00000182255	ENST00000328224	D	0.97279	-4.32	5.16	5.16	0.70880	.	0.343652	0.30714	N	0.009023	D	0.96125	0.8737	M	0.70842	2.15	0.80722	D	1	B	0.27013	0.166	B	0.21151	0.033	D	0.94777	0.7950	10	0.54805	T	0.06	.	18.6691	0.91504	0.0:1.0:0.0:0.0	.	280	P22459	KCNA4_HUMAN	K	280	ENSP00000328511:E280K	ENSP00000328511:E280K	E	-	1	0	KCNA4	29989964	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.818000	0.86416	2.412000	0.81896	0.655000	0.94253	GAA		0.507	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		32	95	0	0	0	0	32	95				
DCDC1	341019	broad.mit.edu	37	11	31312293	31312293	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:31312293C>T	ENST00000452803.1	-	7	1062	c.861G>A	c.(859-861)aaG>aaA	p.K287K	DCDC1_ENST00000597505.1_Silent_p.K287K	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	287					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAGTAAGTTTCTTCATTCTAA	0.388																																						uc001msv.2		NA																	0				skin(1)	1						c.(859-861)AAG>AAA		doublecortin domain containing 1							85.0	86.0	86.0					11																	31312293		2202	4299	6501	SO:0001819	synonymous_variant	341019				intracellular signal transduction			g.chr11:31312293C>T	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.861G>A	11.37:g.31312293C>T						DCDC1_uc001msu.1_Intron	p.K287K	NM_181807	NP_861523	P59894	DCDC1_HUMAN			7	1063	-	Lung SC(675;0.225)		287					A6PVL6|B7WNX6|Q6ZU04	Silent	SNP	ENST00000452803.1	37	c.861G>A	CCDS7872.1																																																																																				0.388	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	NM_181807		38	94	0	0	0	0	38	94				
CCDC73	493860	broad.mit.edu	37	11	32676499	32676499	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:32676499G>C	ENST00000335185.5	-	10	708	c.665C>G	c.(664-666)tCa>tGa	p.S222*	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	222										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TATCAAGTCTGAGGCTGCTTT	0.299																																						uc001mtv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(664-666)TCA>TGA		sarcoma antigen NY-SAR-79							84.0	70.0	75.0					11																	32676499		1806	4051	5857	SO:0001587	stop_gained	493860							g.chr11:32676499G>C	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.665C>G	11.37:g.32676499G>C	ENSP00000335325:p.Ser222*					CCDC73_uc001mtw.1_Nonsense_Mutation_p.S222*	p.S222*	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN			10	709	-	Breast(20;0.112)		222					Q6P5Q7|Q6ZMW0|Q86WE7	Nonsense_Mutation	SNP	ENST00000335185.5	37	c.665C>G	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	G	32	5.178649	0.94846	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	17.959	0.89079	0.0:0.0:1.0:0.0	.	.	.	.	X	222	.	ENSP00000335325:S222X	S	-	2	0	CCDC73	32633075	1.000000	0.71417	0.995000	0.50966	0.804000	0.45430	6.330000	0.72925	2.658000	0.90341	0.591000	0.81541	TCA		0.299	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		17	48	0	0	0	0	17	48				
PRDM11	56981	broad.mit.edu	37	11	45241142	45241142	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:45241142G>C	ENST00000530656.1	+	6	678	c.678G>C	c.(676-678)gaG>gaC	p.E226D	PRDM11_ENST00000263765.4_Missense_Mutation_p.E226D|PRDM11_ENST00000424263.2_Missense_Mutation_p.E192D|PRDM11_ENST00000528980.1_3'UTR|CTD-2560E9.3_ENST00000527450.1_RNA			Q9NQV5	PRD11_HUMAN	PR domain containing 11	226	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						TCTCCCGGGAGGAGAGGGAGC	0.662																																					NSCLC(118;1511 1736 6472 36603 43224)	uc001myo.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(676-678)GAG>GAC		PR domain containing 11							65.0	57.0	59.0					11																	45241142		2203	4299	6502	SO:0001583	missense	56981							g.chr11:45241142G>C	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.678G>C	11.37:g.45241142G>C	ENSP00000435976:p.Glu226Asp						p.E226D	NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN			7	927	+			226			SET.		Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.678G>C		.	.	.	.	.	.	.	.	.	.	G	14.37	2.515753	0.44763	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.44083	0.93;0.93;0.93	5.78	4.87	0.63330	SET domain (2);	0.000000	0.64402	D	0.000002	T	0.25754	0.0627	N	0.11789	0.175	0.38728	D	0.953609	B	0.28933	0.228	B	0.26693	0.072	T	0.10382	-1.0632	10	0.22706	T	0.39	-41.0081	14.8178	0.70048	0.0691:0.0:0.9309:0.0	.	226	Q9NQV5	PRD11_HUMAN	D	226;226;192	ENSP00000263765:E226D;ENSP00000435976:E226D;ENSP00000394314:E192D	ENSP00000263765:E226D	E	+	3	2	PRDM11	45197718	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.962000	0.29280	1.452000	0.47756	0.643000	0.83706	GAG		0.662	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		20	45	0	0	0	0	20	45				
CKAP5	9793	broad.mit.edu	37	11	46801864	46801864	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:46801864C>G	ENST00000529230.1	-	20	2359	c.2313G>C	c.(2311-2313)gtG>gtC	p.V771V	CKAP5_ENST00000312055.5_Silent_p.V771V|CKAP5_ENST00000354558.3_Silent_p.V771V|CKAP5_ENST00000415402.1_Silent_p.V771V			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	771					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CAGCAGTCCTCACAGCCTGCC	0.418																																					Ovarian(4;85 273 2202 4844 13323)	uc001ndi.1		NA																	0				ovary(1)|skin(1)	2						c.(2311-2313)GTG>GTC		colonic and hepatic tumor over-expressed protein							76.0	72.0	73.0					11																	46801864		2201	4299	6500	SO:0001819	synonymous_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding	g.chr11:46801864C>G		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2313G>C	11.37:g.46801864C>G						CKAP5_uc009ylg.1_Silent_p.V657V|CKAP5_uc001ndj.1_Silent_p.V771V	p.V771V	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN			20	2423	-			771			HEAT 4.		Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	37	c.2313G>C	CCDS31477.1																																																																																				0.418	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		12	42	0	0	0	0	12	42				
C11orf49	79096	broad.mit.edu	37	11	47176813	47176813	+	Splice_Site	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:47176813G>A	ENST00000278460.7	+	5	510		c.e5+1		C11orf49_ENST00000527268.1_Splice_Site|C11orf49_ENST00000543718.1_Splice_Site|C11orf49_ENST00000378615.3_Splice_Site|C11orf49_ENST00000378618.2_Splice_Site|C11orf49_ENST00000395460.2_Splice_Site|C11orf49_ENST00000536126.1_Splice_Site	NM_001003677.1|NM_024113.3	NP_001003677.1|NP_077018.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49							nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						TACTACTCAGGTGAGTGTTCC	0.542																																						uc001ndp.2		NA																	0					0						c.e5+1		hypothetical protein LOC79096 isoform 3							262.0	222.0	236.0					11																	47176813		2201	4299	6500	SO:0001630	splice_region_variant	79096							g.chr11:47176813G>A	AL136575	CCDS7925.1, CCDS31479.1, CCDS31480.1, CCDS41641.1	11p11.2	2006-02-02			ENSG00000149179	ENSG00000149179			28720	protein-coding gene	gene with protein product							Standard	NM_001003677		Approved	FLJ22210, MGC4707	uc001ndr.4	Q9H6J7	OTTHUMG00000166725	ENST00000278460.7:c.451+1G>A	11.37:g.47176813G>A						C11orf49_uc001nds.2_Splice_Site_p.E151_splice|C11orf49_uc001ndq.2_Splice_Site_p.E151_splice|C11orf49_uc001ndr.2_Splice_Site_p.E151_splice|C11orf49_uc010rgx.1_Splice_Site_p.E54_splice|C11orf49_uc010rgy.1_Splice_Site_p.E142_splice|C11orf49_uc010rgz.1_Splice_Site_p.E67_splice	p.E151_splice	NM_024113	NP_077018	Q9H6J7	CK049_HUMAN			5	557	+								D3DQQ8|E9PAX7|Q7L077|Q96CS8|Q9BQH4|Q9BUW5	Splice_Site	SNP	ENST00000278460.7	37	c.451_splice	CCDS7925.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585860	0.86748	.	.	ENSG00000149179	ENST00000536126;ENST00000278460;ENST00000378618;ENST00000395460;ENST00000378615;ENST00000543718;ENST00000526827	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.756	0.96291	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C11orf49	47133389	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.824000	0.92023	2.665000	0.90641	0.655000	0.94253	.		0.542	C11orf49-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391218.1	NM_024113	Intron	64	217	0	0	0	0	64	217				
AGBL2	79841	broad.mit.edu	37	11	47684621	47684621	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:47684621G>A	ENST00000525123.1	-	18	2777	c.2492C>T	c.(2491-2493)tCa>tTa	p.S831L	AGBL2_ENST00000298861.4_Missense_Mutation_p.S831L|AGBL2_ENST00000357610.3_Missense_Mutation_p.S833L	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	831						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GGTGGCCATTGATGGGTCCAG	0.353																																						uc001ngg.2		NA																	0				ovary(2)	2						c.(2491-2493)TCA>TTA		carboxypeptidase 2, cytosolic							130.0	139.0	136.0					11																	47684621		2201	4298	6499	SO:0001583	missense	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47684621G>A		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.2492C>T	11.37:g.47684621G>A	ENSP00000435582:p.Ser831Leu					AGBL2_uc001ngf.2_RNA	p.S831L	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN			17	2592	-			831					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	c.2492C>T	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.328997	0.41197	.	.	ENSG00000165923	ENST00000528609;ENST00000525123;ENST00000357610;ENST00000298861	T;T;T	0.11169	2.8;2.8;2.8	4.71	3.78	0.43462	.	0.696895	0.11911	N	0.517634	T	0.12475	0.0303	L	0.54323	1.7	0.09310	N	1	B	0.31680	0.335	B	0.28139	0.086	T	0.13737	-1.0498	10	0.66056	D	0.02	-2.7999	10.7776	0.46358	0.0:0.0:0.8095:0.1905	.	831	Q5U5Z8	CBPC2_HUMAN	L	214;831;833;831	ENSP00000435582:S831L;ENSP00000350228:S833L;ENSP00000298861:S831L	ENSP00000298861:S831L	S	-	2	0	AGBL2	47641197	0.072000	0.21174	0.003000	0.11579	0.120000	0.20174	2.910000	0.48766	1.278000	0.44430	0.650000	0.86243	TCA		0.353	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		106	325	0	0	0	0	106	325				
NUP160	23279	broad.mit.edu	37	11	47819408	47819408	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:47819408C>G	ENST00000378460.2	-	27	3258	c.3212G>C	c.(3211-3213)aGa>aCa	p.R1071T	NUP160_ENST00000528071.1_Missense_Mutation_p.R957T|NUP160_ENST00000530326.1_Missense_Mutation_p.R957T	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1071					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						GTCCACAGCTCTAGCACGTGA	0.438																																						uc001ngm.2		NA																	0				ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(3211-3213)AGA>ACA		nucleoporin 160kDa							155.0	132.0	140.0					11																	47819408		2201	4298	6499	SO:0001583	missense	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47819408C>G	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.3212G>C	11.37:g.47819408C>G	ENSP00000367721:p.Arg1071Thr					NUP160_uc009ylw.2_RNA	p.R1071T	NM_015231	NP_056046	Q12769	NU160_HUMAN			27	3297	-			1071					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	c.3212G>C	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527527	0.85706	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.57107	0.99;0.42;0.46	5.89	5.89	0.94794	.	0.058620	0.64402	D	0.000002	T	0.72898	0.3518	M	0.84219	2.685	0.80722	D	1	D	0.71674	0.998	P	0.58820	0.846	T	0.75654	-0.3243	10	0.62326	D	0.03	.	18.826	0.92119	0.0:1.0:0.0:0.0	.	1071	Q12769	NU160_HUMAN	T	1071;957;957	ENSP00000367721:R1071T;ENSP00000433590:R957T;ENSP00000432367:R957T	ENSP00000367721:R1071T	R	-	2	0	NUP160	47775984	1.000000	0.71417	0.806000	0.32338	0.954000	0.61252	7.298000	0.78815	2.790000	0.95986	0.655000	0.94253	AGA		0.438	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		35	138	0	0	0	0	35	138				
OR4A15	81328	broad.mit.edu	37	11	55135371	55135371	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:55135371G>A	ENST00000314706.3	+	1	12	c.12G>A	c.(10-12)ctG>ctA	p.L4L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TGGAGCTTCTGACAAATAATC	0.408																																						uc010rif.1		NA																	0				ovary(1)|skin(1)	2						c.(10-12)CTG>CTA		olfactory receptor, family 4, subfamily A,							51.0	45.0	47.0					11																	55135371		2198	4295	6493	SO:0001819	synonymous_variant	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135371G>A	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.12G>A	11.37:g.55135371G>A							p.L4L	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	12	+			4			Extracellular (Potential).		Q6IFL4|Q96R65	Silent	SNP	ENST00000314706.3	37	c.12G>A	CCDS31500.1																																																																																				0.408	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		21	66	0	0	0	0	21	66				
OR5L1	219437	broad.mit.edu	37	11	55579557	55579557	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:55579557G>A	ENST00000333973.2	+	1	704	c.615G>A	c.(613-615)ttG>ttA	p.L205L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGGCCACTTTGAATGAGAGTG	0.468																																						uc001nhw.1		NA																	0				skin(3)|ovary(2)	5						c.(613-615)TTG>TTA		olfactory receptor, family 5, subfamily L,							247.0	203.0	218.0					11																	55579557		2200	4296	6496	SO:0001819	synonymous_variant	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579557G>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.615G>A	11.37:g.55579557G>A							p.L205L	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	615	+		all_epithelial(135;0.208)	205			Helical; Name=5; (Potential).		B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	c.615G>A	CCDS31509.1																																																																																				0.468	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		71	229	0	0	0	0	71	229				
TRIM51	84767	broad.mit.edu	37	11	55659078	55659078	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:55659078C>T	ENST00000449290.2	+	7	1421	c.1329C>T	c.(1327-1329)ctC>ctT	p.L443L	TRIM51_ENST00000244891.3_Silent_p.L300L	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	443	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										CACCTCCTCTCAGGCCTATCT	0.453																																						uc010rip.1		NA																	0					0						c.(1327-1329)CTC>CTT		SPRY domain containing 5							113.0	120.0	117.0					11																	55659078		2150	4156	6306	SO:0001819	synonymous_variant	84767					intracellular	zinc ion binding	g.chr11:55659078C>T	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1329C>T	11.37:g.55659078C>T						SPRYD5_uc010riq.1_Silent_p.L300L	p.L443L	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			7	1421	+		all_epithelial(135;0.226)	443			B30.2/SPRY.		A6NMG2	Silent	SNP	ENST00000449290.2	37	c.1329C>T																																																																																					0.453	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		51	266	0	0	0	0	51	266				
OR8H2	390151	broad.mit.edu	37	11	55872928	55872928	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:55872928C>T	ENST00000313503.1	+	1	410	c.410C>T	c.(409-411)tCc>tTc	p.S137F		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GTTATTATGTCCAAAAGGCTC	0.468										HNSCC(53;0.14)																												uc010riy.1		NA																	0				ovary(1)|skin(1)	2						c.(409-411)TCC>TTC		olfactory receptor, family 8, subfamily H,							209.0	191.0	197.0					11																	55872928		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872928C>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.410C>T	11.37:g.55872928C>T	ENSP00000323982:p.Ser137Phe	HNSCC(53;0.14)					p.S137F	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	410	+	Esophageal squamous(21;0.00693)		137			Cytoplasmic (Potential).		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.410C>T	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	c	13.88	2.369541	0.42003	.	.	ENSG00000181767	ENST00000313503	T	0.02032	4.49	3.58	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000071	T	0.08714	0.0216	M	0.93328	3.405	0.09310	N	0.999998	P	0.45827	0.867	P	0.44597	0.454	T	0.11690	-1.0577	10	0.87932	D	0	.	12.514	0.56021	0.0:0.6915:0.3085:0.0	.	137	Q8N162	OR8H2_HUMAN	F	137	ENSP00000323982:S137F	ENSP00000323982:S137F	S	+	2	0	OR8H2	55629504	0.002000	0.14202	0.698000	0.30274	0.074000	0.17049	0.338000	0.19858	1.952000	0.56665	0.440000	0.28878	TCC		0.468	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		116	280	0	0	0	0	116	280				
TNKS1BP1	85456	broad.mit.edu	37	11	57080763	57080763	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:57080763C>G	ENST00000532437.1	-	4	1710	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.E467Q|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	467	Acidic.|Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CAGTTGGACTCTGCCCCAAAG	0.672																																						uc001njr.2		NA																	0				skin(1)	1						c.(1399-1401)GAG>CAG		tankyrase 1-binding protein 1							25.0	25.0	25.0					11																	57080763		2191	4263	6454	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57080763C>G	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.1399G>C	11.37:g.57080763C>G	ENSP00000437271:p.Glu467Gln					TNKS1BP1_uc001njs.2_Missense_Mutation_p.E467Q|TNKS1BP1_uc009ymd.1_5'UTR	p.E467Q	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			4	1711	-		all_epithelial(135;0.21)	467			Pro-rich.|Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.1399G>C	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485074	0.63962	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.58797	0.31;0.31	4.01	3.09	0.35607	.	0.696787	0.11785	N	0.529786	T	0.47322	0.1439	L	0.29908	0.895	0.28122	N	0.930563	P	0.35107	0.484	B	0.36567	0.228	T	0.40175	-0.9577	10	0.44086	T	0.13	.	11.8416	0.52357	0.0:0.8234:0.1766:0.0	.	467	Q9C0C2	TB182_HUMAN	Q	467	ENSP00000350990:E467Q;ENSP00000437271:E467Q	ENSP00000350990:E467Q	E	-	1	0	TNKS1BP1	56837339	0.991000	0.36638	1.000000	0.80357	0.698000	0.40448	1.446000	0.35090	0.896000	0.36366	0.462000	0.41574	GAG		0.672	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		21	42	0	0	0	0	21	42				
OR1S1	219959	broad.mit.edu	37	11	57982933	57982933	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:57982933G>A	ENST00000309433.6	+	1	717	c.717G>A	c.(715-717)ctG>ctA	p.L239L		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L239L(1)		breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				GAGCTGTCCTGAGAGTATCTT	0.438																																						uc010rkc.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(715-717)CTG>CTA		olfactory receptor, family 1, subfamily S,							146.0	118.0	127.0					11																	57982933		2201	4295	6496	SO:0001819	synonymous_variant	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57982933G>A	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.717G>A	11.37:g.57982933G>A							p.L239L	NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN			1	717	+		Breast(21;0.0589)	239			Cytoplasmic (Potential).		Q6IFG3	Silent	SNP	ENST00000309433.6	37	c.717G>A	CCDS31546.1																																																																																				0.438	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		42	75	0	0	0	0	42	75				
MTA2	9219	broad.mit.edu	37	11	62364201	62364201	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:62364201C>A	ENST00000278823.2	-	9	1179	c.790G>T	c.(790-792)Gag>Tag	p.E264*	MTA2_ENST00000524902.1_Nonsense_Mutation_p.E91*|MTA2_ENST00000527204.1_Nonsense_Mutation_p.E91*	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	264	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						TCCTCCATCTCATCCCGACAC	0.537																																						uc001ntq.1		NA																	0				ovary(1)|skin(1)	2						c.(790-792)GAG>TAG		metastasis-associated protein 2							88.0	85.0	86.0					11																	62364201		2202	4299	6501	SO:0001587	stop_gained	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62364201C>A	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.790G>T	11.37:g.62364201C>A	ENSP00000278823:p.Glu264*					MTA2_uc010rlx.1_Nonsense_Mutation_p.E91*	p.E264*	NM_004739	NP_004730	O94776	MTA2_HUMAN			9	1171	-			264			SANT.		Q68DB1|Q9UQB5	Nonsense_Mutation	SNP	ENST00000278823.2	37	c.790G>T	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	C	39	7.590806	0.98378	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-27.67	16.9935	0.86360	0.0:1.0:0.0:0.0	.	.	.	.	X	264;91;91	.	ENSP00000278823:E264X	E	-	1	0	MTA2	62120777	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.767000	0.85331	2.679000	0.91253	0.561000	0.74099	GAG		0.537	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		54	110	1	0	9.55e-19	1.02e-18	54	110				
UBXN1	51035	broad.mit.edu	37	11	62444320	62444320	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:62444320G>C	ENST00000301935.5	-	8	975	c.809C>G	c.(808-810)tCa>tGa	p.S270*	UBXN1_ENST00000524762.1_5'Flank|UBXN1_ENST00000294119.2_Nonsense_Mutation_p.S270*|UBXN1_ENST00000529640.1_Nonsense_Mutation_p.S266*|UBXN1_ENST00000533000.1_Intron			Q04323	UBXN1_HUMAN	UBX domain protein 1	270	Interaction with BRCA1.|UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|lung(12)	17						GTCAGCTTCTGAGAAGGCCCG	0.592																																						uc001nul.1		NA																	0					0						c.(808-810)TCA>TGA		UBX domain protein 1							99.0	106.0	103.0					11																	62444320		2202	4299	6501	SO:0001587	stop_gained	51035				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	g.chr11:62444320G>C		CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"""UBX domain containing"""	18402	protein-coding gene	gene with protein product	"""SAPK substrate protein 1"""					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.809C>G	11.37:g.62444320G>C	ENSP00000303991:p.Ser270*					UBXN1_uc001nuj.2_Nonsense_Mutation_p.S270*|UBXN1_uc001num.1_Nonsense_Mutation_p.S266*|UBXN1_uc001nuk.2_3'UTR|UBXN1_uc010rme.1_3'UTR	p.S270*	NM_015853	NP_056937	Q04323	UBXN1_HUMAN			8	941	-			270			UBX.|Interaction with BRCA1.		Q9BV93|Q9BVV5	Nonsense_Mutation	SNP	ENST00000301935.5	37	c.809C>G		.	.	.	.	.	.	.	.	.	.	G	28.1	4.894895	0.91962	.	.	ENSG00000162191	ENST00000294119;ENST00000301935;ENST00000537534;ENST00000529640;ENST00000534176	.	.	.	5.35	4.44	0.53790	.	0.052676	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-6.9788	12.6224	0.56610	0.0822:0.0:0.9178:0.0	.	.	.	.	X	270;270;173;266;270	.	ENSP00000294119:S270X	S	-	2	0	UBXN1	62200896	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	5.955000	0.70306	1.587000	0.49959	0.655000	0.94253	TCA		0.592	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395153.1	NM_015853		62	187	0	0	0	0	62	187				
SLC22A10	387775	broad.mit.edu	37	11	63072312	63072312	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:63072312G>C	ENST00000332793.6	+	9	1551	c.1549G>C	c.(1549-1551)Gaa>Caa	p.E517Q	SLC22A10_ENST00000544661.1_3'UTR|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	517						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	CCTCCTACCAGAAACCAAGAA	0.433																																						uc009yor.2		NA																	0				ovary(2)	2						c.(1549-1551)GAA>CAA		solute carrier family 22, member 10							160.0	141.0	147.0					11																	63072312		1914	4125	6039	SO:0001583	missense	387775					integral to membrane	transmembrane transporter activity	g.chr11:63072312G>C	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.1549G>C	11.37:g.63072312G>C	ENSP00000327569:p.Glu517Gln					SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_3'UTR	p.E517Q	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN			9	1757	+			517			Extracellular (Potential).		Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	c.1549G>C	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304420	0.60305	.	.	ENSG00000184999	ENST00000332793	T	0.80824	-1.42	2.73	2.73	0.32206	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	U	0.000001	D	0.92815	0.7715	H	0.98276	4.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94071	0.7335	10	0.87932	D	0	.	11.3654	0.49668	0.0:0.0:1.0:0.0	.	517	Q63ZE4	S22AA_HUMAN	Q	517	ENSP00000327569:E517Q	ENSP00000327569:E517Q	E	+	1	0	SLC22A10	62828888	1.000000	0.71417	0.506000	0.27664	0.265000	0.26407	5.198000	0.65147	1.566000	0.49654	0.579000	0.79373	GAA		0.433	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		51	208	0	0	0	0	51	208				
SLC22A11	55867	broad.mit.edu	37	11	64323848	64323848	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:64323848C>G	ENST00000301891.4	+	1	751	c.377C>G	c.(376-378)tCc>tGc	p.S126C	SLC22A11_ENST00000377581.3_Missense_Mutation_p.S126C|SLC22A11_ENST00000377585.3_Missense_Mutation_p.S126C|SLC22A11_ENST00000490834.1_3'UTR	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	126					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	GTCTTCACCTCCACCATCGTG	0.627																																						uc001oai.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(376-378)TCC>TGC		solute carrier family 22 member 11	Probenecid(DB01032)						29.0	31.0	30.0					11																	64323848		2201	4297	6498	SO:0001583	missense	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64323848C>G	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.377C>G	11.37:g.64323848C>G	ENSP00000301891:p.Ser126Cys					SLC22A11_uc001oah.1_Missense_Mutation_p.S126C|SLC22A11_uc001oaj.2_Missense_Mutation_p.S126C|SLC22A11_uc009ypq.2_Missense_Mutation_p.S126C	p.S126C	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN			1	751	+			126			Extracellular (Potential).		A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	37	c.377C>G	CCDS8074.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627304	0.28978	.	.	ENSG00000168065	ENST00000301891;ENST00000377585;ENST00000377581	T;T;T	0.59638	0.25;0.25;0.25	3.97	3.03	0.35002	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.142348	0.47852	U	0.000206	T	0.79191	0.4404	M	0.93150	3.385	0.25449	N	0.988023	P;D;D;P	0.89917	0.671;1.0;1.0;0.887	B;D;D;P	0.77004	0.191;0.989;0.989;0.551	T	0.71258	-0.4646	10	0.87932	D	0	.	10.042	0.42164	0.0:0.8959:0.0:0.1041	.	126;126;126;126	Q9NSA0-2;A6NCG2;Q9NSA0;B4DJH6	.;.;S22AB_HUMAN;.	C	126	ENSP00000301891:S126C;ENSP00000366809:S126C;ENSP00000366804:S126C	ENSP00000301891:S126C	S	+	2	0	SLC22A11	64080424	0.017000	0.18338	0.249000	0.24280	0.017000	0.09413	0.496000	0.22499	0.978000	0.38470	0.543000	0.68304	TCC		0.627	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		14	36	0	0	0	0	14	36				
ZFPL1	7542	broad.mit.edu	37	11	64853913	64853913	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:64853913G>A	ENST00000294258.3	+	4	393	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	AP003068.6_ENST00000525544.2_5'Flank|CDCA5_ENST00000404147.3_5'Flank|CDCA5_ENST00000275517.3_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	81					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CTGCCTCAATGAACGTGCTGC	0.592																																						uc001ocq.1		NA																	0				ovary(1)	1						c.(241-243)GAA>AAA		zinc finger protein-like 1							194.0	200.0	198.0					11																	64853913		2201	4297	6498	SO:0001583	missense	7542				regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding	g.chr11:64853913G>A		CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"""zinc-finger protein in MEN1 region"""					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.241G>A	11.37:g.64853913G>A	ENSP00000294258:p.Glu81Lys					CDCA5_uc001ocp.2_5'Flank	p.E81K	NM_006782	NP_006773	O95159	ZFPL1_HUMAN			4	406	+			81			RING-type; degenerate.|Cytoplasmic (Potential).		A8K7E9|O14616|Q9UID0	Missense_Mutation	SNP	ENST00000294258.3	37	c.241G>A	CCDS8092.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840036	0.51057	.	.	ENSG00000162300	ENST00000294258;ENST00000526334;ENST00000526945;ENST00000532200	D;D;D	0.95980	-3.87;-3.87;-3.87	5.46	5.46	0.80206	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.343231	0.34268	N	0.004103	D	0.86397	0.5923	N	0.03948	-0.315	0.80722	D	1	P	0.42518	0.782	B	0.37888	0.26	D	0.87473	0.2415	10	0.06365	T	0.9	-3.3863	16.8323	0.85947	0.0:0.0:1.0:0.0	.	81	O95159	ZFPL1_HUMAN	K	81;81;75;81	ENSP00000294258:E81K;ENSP00000434454:E81K;ENSP00000437090:E81K	ENSP00000294258:E81K	E	+	1	0	ZFPL1	64610489	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.675000	0.68123	2.574000	0.86865	0.456000	0.33151	GAA		0.592	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385196.1	NM_006782		115	303	0	0	0	0	115	303				
KDM2A	22992	broad.mit.edu	37	11	66985207	66985207	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:66985207C>T	ENST00000529006.2	+	9	1139	c.693C>T	c.(691-693)ttC>ttT	p.F231F	KDM2A_ENST00000398645.2_Silent_p.F231F|KDM2A_ENST00000526258.1_Intron	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	231	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CACAGGTCTTCTGGCTCATCC	0.483																																						uc001ojw.2		NA																	0				ovary(4)|lung(3)|breast(1)|skin(1)	9						c.(691-693)TTC>TTT		F-box and leucine-rich repeat protein 11							70.0	66.0	67.0					11																	66985207		1881	4116	5997	SO:0001819	synonymous_variant	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:66985207C>T	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.693C>T	11.37:g.66985207C>T						KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Intron	p.F231F	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN			9	1557	+			231			JmjC.		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Silent	SNP	ENST00000529006.2	37	c.693C>T	CCDS44657.1																																																																																				0.483	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		7	33	0	0	0	0	7	33				
CPT1A	1374	broad.mit.edu	37	11	68575046	68575046	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:68575046C>G	ENST00000265641.5	-	4	496	c.342G>C	c.(340-342)ctG>ctC	p.L114L	CPT1A_ENST00000539743.1_Silent_p.L114L|CPT1A_ENST00000376618.2_Silent_p.L114L|CPT1A_ENST00000540367.1_Silent_p.L114L	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	114					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GGGCCACCCACAGGCCGGTGC	0.607																																						uc001oog.3		NA																	0				skin(2)	2						c.(340-342)CTG>CTC		carnitine palmitoyltransferase 1A liver isoform	L-Carnitine(DB00583)|Perhexiline(DB01074)						173.0	127.0	142.0					11																	68575046		2200	4294	6494	SO:0001819	synonymous_variant	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68575046C>G	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.342G>C	11.37:g.68575046C>G						CPT1A_uc001oof.3_Silent_p.L114L|CPT1A_uc009ysj.2_Silent_p.L114L	p.L114L	NM_001876	NP_001867	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		4	512	-	Esophageal squamous(3;3.28e-14)		114			Helical; (Potential).		Q8TCU0|Q9BWK0	Silent	SNP	ENST00000265641.5	37	c.342G>C	CCDS8185.1																																																																																				0.607	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		14	56	0	0	0	0	14	56				
CTTN	2017	broad.mit.edu	37	11	70253636	70253636	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:70253636G>A	ENST00000301843.8	+	4	306	c.100G>A	c.(100-102)Gag>Aag	p.E34K	CTTN_ENST00000527622.1_3'UTR|CTTN_ENST00000376561.3_Missense_Mutation_p.E34K|CTTN_ENST00000346329.3_Missense_Mutation_p.E34K	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	34					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGATGTGAGTGAGAAGGAGCA	0.552																																						uc001opv.3		NA																	0				ovary(1)	1						c.(100-102)GAG>AAG		cortactin isoform a							81.0	88.0	85.0					11																	70253636		2200	4294	6494	SO:0001583	missense	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70253636G>A	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.100G>A	11.37:g.70253636G>A	ENSP00000301843:p.Glu34Lys					CTTN_uc001opu.2_Missense_Mutation_p.E34K|CTTN_uc001opw.3_Missense_Mutation_p.E34K	p.E34K	NM_005231	NP_005222	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	4	306	+			34					Q8N707|Q96H99	Missense_Mutation	SNP	ENST00000301843.8	37	c.100G>A	CCDS41680.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907088	0.92107	.	.	ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561	T;T;T	0.50813	0.8;0.82;0.73	5.3	5.3	0.74995	.	0.110302	0.64402	N	0.000009	T	0.75766	0.3894	M	0.91972	3.26	0.80722	D	1	D;D;D	0.76494	0.976;0.996;0.999	P;D;D	0.68943	0.676;0.933;0.961	T	0.82108	-0.0620	10	0.87932	D	0	-32.6643	18.9853	0.92767	0.0:0.0:1.0:0.0	.	34;34;34	Q96H99;Q14247;Q8N707	.;SRC8_HUMAN;.	K	34	ENSP00000317189:E34K;ENSP00000301843:E34K;ENSP00000365745:E34K	ENSP00000301843:E34K	E	+	1	0	CTTN	69931284	1.000000	0.71417	0.305000	0.25099	0.466000	0.32739	9.115000	0.94336	2.469000	0.83416	0.655000	0.94253	GAG		0.552	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		34	135	0	0	0	0	34	135				
FCHSD2	9873	broad.mit.edu	37	11	72712082	72712082	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:72712082C>G	ENST00000409418.4	-	5	723	c.340G>C	c.(340-342)Gag>Cag	p.E114Q	FCHSD2_ENST00000311172.7_Missense_Mutation_p.E58Q|FCHSD2_ENST00000409314.1_Missense_Mutation_p.E114Q|FCHSD2_ENST00000458644.2_Intron|FCHSD2_ENST00000409853.1_Missense_Mutation_p.E58Q	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	114										endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CTTGCAGGCTCAGAAATGAAG	0.368																																						uc009ytl.2		NA																	0				ovary(1)	1						c.(340-342)GAG>CAG		FCH and double SH3 domains 2							70.0	69.0	69.0					11																	72712082		2200	4293	6493	SO:0001583	missense	9873						protein binding	g.chr11:72712082C>G	AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.340G>C	11.37:g.72712082C>G	ENSP00000386722:p.Glu114Gln					FCHSD2_uc010rrg.1_Intron|FCHSD2_uc001oth.3_Missense_Mutation_p.E58Q|FCHSD2_uc001oti.2_Missense_Mutation_p.E73Q	p.E114Q	NM_014824	NP_055639	O94868	FCSD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.3e-05)		5	561	-			114					B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Missense_Mutation	SNP	ENST00000409418.4	37	c.340G>C	CCDS8218.2	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758512	0.89843	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000409853;ENST00000422375	T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45	5.97	5.97	0.96955	.	0.095949	0.64402	D	0.000001	T	0.31827	0.0809	L	0.52573	1.65	0.58432	D	0.999999	D;D	0.59767	0.958;0.986	P;P	0.58721	0.558;0.844	T	0.00822	-1.1552	10	0.15066	T	0.55	-5.1368	19.4017	0.94632	0.0:1.0:0.0:0.0	.	114;58	O94868;O94868-3	FCSD2_HUMAN;.	Q	58;114;114;58;93	ENSP00000308978:E58Q;ENSP00000386987:E114Q;ENSP00000386722:E114Q;ENSP00000386314:E58Q;ENSP00000408706:E93Q	ENSP00000308978:E58Q	E	-	1	0	FCHSD2	72389730	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.628000	0.74262	2.835000	0.97688	0.591000	0.81541	GAG		0.368	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824		6	21	0	0	0	0	6	21				
PGM2L1	283209	broad.mit.edu	37	11	74053568	74053568	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:74053568C>G	ENST00000298198.4	-	12	1881	c.1570G>C	c.(1570-1572)Gct>Cct	p.A524P		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	524					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					TGCAATATAGCAAATGTTCCA	0.323																																						uc001ovb.1		NA																	0				ovary(1)	1						c.(1570-1572)GCT>CCT		phosphoglucomutase 2-like 1							76.0	82.0	80.0					11																	74053568		2200	4292	6492	SO:0001583	missense	283209				glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity	g.chr11:74053568C>G	AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"""glucose-1,6-bisphosphate synthase"""	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1570G>C	11.37:g.74053568C>G	ENSP00000298198:p.Ala524Pro						p.A524P	NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN			12	1866	-	Breast(11;3.32e-06)		524					Q96MQ7|Q9UIK3	Missense_Mutation	SNP	ENST00000298198.4	37	c.1570G>C	CCDS8231.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.036387	0.35893	.	.	ENSG00000165434	ENST00000298198	T	0.17054	2.3	5.8	1.86	0.25419	.	0.612783	0.17337	N	0.177887	T	0.08670	0.0215	N	0.16478	0.41	0.25295	N	0.989325	B	0.06786	0.001	B	0.16289	0.015	T	0.28996	-1.0026	10	0.36615	T	0.2	-8.5783	3.8472	0.08940	0.1354:0.5878:0.1307:0.1461	.	524	Q6PCE3	PGM2L_HUMAN	P	524	ENSP00000298198:A524P	ENSP00000298198:A524P	A	-	1	0	PGM2L1	73731216	0.000000	0.05858	0.512000	0.27736	0.993000	0.82548	-0.261000	0.08694	0.088000	0.17205	0.563000	0.77884	GCT		0.323	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582		4	199	0	0	0	0	4	199				
SLCO2B1	11309	broad.mit.edu	37	11	74873772	74873772	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:74873772G>A	ENST00000289575.5	+	2	484	c.89G>A	c.(88-90)gGa>gAa	p.G30E	SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000341411.4_5'UTR|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.G8E|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000532236.1_Intron|SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000526660.1_Intron	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	30					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	AACACACCTGGAGGCAAAGCC	0.577																																						uc001owb.2		NA																	0				ovary(1)|breast(1)	2						c.(88-90)GGA>GAA		solute carrier organic anion transporter family,	Ergoloid mesylate(DB01049)						149.0	140.0	143.0					11																	74873772		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74873772G>A	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.89G>A	11.37:g.74873772G>A	ENSP00000289575:p.Gly30Glu					SLCO2B1_uc010rrp.1_RNA|SLCO2B1_uc010rrq.1_Intron|SLCO2B1_uc010rrr.1_Intron|SLCO2B1_uc010rrs.1_Intron|SLCO2B1_uc001owc.2_Intron|SLCO2B1_uc001owd.2_Missense_Mutation_p.G8E	p.G30E	NM_007256	NP_009187	O94956	SO2B1_HUMAN			2	476	+			30			Cytoplasmic (Potential).		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.89G>A	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	G	4.482	0.089298	0.08632	.	.	ENSG00000137491	ENST00000531713;ENST00000289575;ENST00000530556;ENST00000534004;ENST00000527180;ENST00000525845;ENST00000534186;ENST00000428359	T;T;T;T;T	0.56103	0.66;1.27;0.48;0.49;1.27	3.92	0.933	0.19471	Major facilitator superfamily domain, general substrate transporter (1);	1.348970	0.05308	N	0.524349	T	0.29652	0.0740	N	0.08118	0	0.22017	N	0.999412	B	0.09022	0.002	B	0.06405	0.002	T	0.17776	-1.0358	10	0.20046	T	0.44	.	5.2727	0.15634	0.3972:0.0:0.6028:0.0	.	30	O94956	SO2B1_HUMAN	E	8;30;8;8;8;8;8;8	ENSP00000432889:G8E;ENSP00000289575:G30E;ENSP00000436513:G8E;ENSP00000433872:G8E;ENSP00000388912:G8E	ENSP00000289575:G30E	G	+	2	0	SLCO2B1	74551420	0.989000	0.36119	0.550000	0.28217	0.777000	0.43975	0.767000	0.26575	0.410000	0.25675	0.563000	0.77884	GGA		0.577	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		111	237	0	0	0	0	111	237				
RPS3	6188	broad.mit.edu	37	11	75111786	75111786	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:75111786C>T	ENST00000531188.1	+	2	141	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W	RPS3_ENST00000524851.1_Missense_Mutation_p.R27W|RPS3_ENST00000527446.1_Missense_Mutation_p.R27W|RPS3_ENST00000530164.1_Missense_Mutation_p.R27W|RPS3_ENST00000534440.1_Missense_Mutation_p.R27W|RPS3_ENST00000529285.1_3'UTR|RPS3_ENST00000526608.1_Missense_Mutation_p.R27W|RPS3_ENST00000278572.6_Missense_Mutation_p.R27W|SNORD15A_ENST00000384214.1_RNA	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	27	KH type-2. {ECO:0000255|PROSITE- ProRule:PRU00118}.				cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic translation (GO:0002181)|DNA catabolic process, endonucleolytic (GO:0000737)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of DNA repair (GO:0045738)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of DNA N-glycosylase activity (GO:1902546)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ruffle membrane (GO:0032587)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|enzyme binding (GO:0019899)|iron-sulfur cluster binding (GO:0051536)|mRNA binding (GO:0003729)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						GTTTCTTACTCGGGAGCTGGC	0.438																																						uc001owh.2		NA																	0					0						c.(79-81)CGG>TGG		ribosomal protein S3							118.0	111.0	114.0					11																	75111786		2200	4293	6493	SO:0001583	missense	6188				activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome	g.chr11:75111786C>T		CCDS8236.1, CCDS58161.1	11q13.3-q13.5	2011-04-05				ENSG00000149273		"""S ribosomal proteins"""	10420	protein-coding gene	gene with protein product	"""IMR-90 ribosomal protein S3"", ""40S ribosomal protein S3"""	600454				1712897, 7789996	Standard	NM_001005		Approved	FLJ26283, FLJ27450, MGC87870, S3	uc031qcs.1	P23396		ENST00000531188.1:c.79C>T	11.37:g.75111786C>T	ENSP00000434643:p.Arg27Trp					RPS3_uc001owg.2_Missense_Mutation_p.R27W|RPS3_uc001owi.2_Missense_Mutation_p.R27W|RPS3_uc001owk.1_5'UTR	p.R27W	NM_001005	NP_000996	P23396	RS3_HUMAN			2	109	+			27			KH type-2.		B2R7N5|J3KN86|Q498B5|Q8NI95	Missense_Mutation	SNP	ENST00000531188.1	37	c.79C>T	CCDS8236.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604206	0.66445	.	.	ENSG00000149273	ENST00000531188;ENST00000530164;ENST00000530689;ENST00000278572;ENST00000534440;ENST00000527446;ENST00000526608;ENST00000527273;ENST00000524851	.	.	.	5.73	3.66	0.41972	K homology domain-like, alpha/beta (1);K Homology, prokaryotic type (1);K Homology, type 2 (1);	0.105277	0.64402	D	0.000003	T	0.81555	0.4847	H	0.94503	3.545	0.80722	D	1	B	0.20261	0.043	B	0.34652	0.187	D	0.83734	0.0200	9	0.87932	D	0	-8.9218	14.2517	0.66023	0.2802:0.7198:0.0:0.0	.	27	P23396	RS3_HUMAN	W	27	.	ENSP00000278572:R27W	R	+	1	2	RPS3	74789434	0.983000	0.35010	0.996000	0.52242	0.985000	0.73830	2.538000	0.45710	1.406000	0.46857	0.557000	0.71058	CGG		0.438	RPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384158.2	NM_001005		5	195	0	0	0	0	5	195				
PRKRIR	5612	broad.mit.edu	37	11	76062412	76062412	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:76062412G>A	ENST00000260045.3	-	5	1887	c.1782C>T	c.(1780-1782)ttC>ttT	p.F594F	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	594					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						GCTGTTCTGAGAATATATCTT	0.418																																						uc001oxh.1		NA																	0				ovary(2)|pancreas(1)	3						c.(1780-1782)TTC>TTT		protein-kinase, interferon-inducible double							52.0	50.0	50.0					11																	76062412		2198	4271	6469	SO:0001819	synonymous_variant	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76062412G>A	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.1782C>T	11.37:g.76062412G>A						PRKRIR_uc010rrz.1_Silent_p.F419F	p.F594F	NM_004705	NP_004696	O43422	P52K_HUMAN			5	1782	-			594					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Silent	SNP	ENST00000260045.3	37	c.1782C>T	CCDS8243.1																																																																																				0.418	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		61	143	0	0	0	0	61	143				
RSF1	51773	broad.mit.edu	37	11	77378293	77378293	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:77378293G>C	ENST00000308488.6	-	16	4297	c.3995C>G	c.(3994-3996)tCa>tGa	p.S1332*	RSF1_ENST00000480887.1_Nonsense_Mutation_p.S1080*|RSF1_ENST00000360355.2_Nonsense_Mutation_p.S1301*			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1332					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTCTTGTTCTGAGGGCAGGAC	0.522																																						uc001oyn.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(3994-3996)TCA>TGA		remodeling and spacing factor 1							129.0	121.0	124.0					11																	77378293		2200	4292	6492	SO:0001587	stop_gained	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77378293G>C	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.3995C>G	11.37:g.77378293G>C	ENSP00000311513:p.Ser1332*					RSF1_uc001oym.2_Nonsense_Mutation_p.S1080*	p.S1332*	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		16	4115	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		1332					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Nonsense_Mutation	SNP	ENST00000308488.6	37	c.3995C>G	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	G	47	13.062966	0.99717	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355	.	.	.	5.13	3.17	0.36434	.	0.415465	0.18070	N	0.152662	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-7.3189	5.5107	0.16878	0.0767:0.1398:0.6391:0.1444	.	.	.	.	X	1332;1080;1301	.	ENSP00000311513:S1332X	S	-	2	0	RSF1	77055941	0.989000	0.36119	0.986000	0.45419	0.990000	0.78478	2.609000	0.46317	1.397000	0.46682	0.462000	0.41574	TCA		0.522	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		61	153	0	0	0	0	61	153				
KCTD21	283219	broad.mit.edu	37	11	77884871	77884871	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:77884871G>A	ENST00000340067.3	-	2	1008	c.730C>T	c.(730-732)Cat>Tat	p.H244Y	KCTD21-AS1_ENST00000530261.1_RNA|KCTD21-AS1_ENST00000528468.1_RNA|KCTD21-AS1_ENST00000600795.1_RNA|KCTD21-AS1_ENST00000523626.2_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	244					protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			TCCAGAGCATGTGGGTGAGAA	0.478																																						uc001ozb.2		NA																	0				pancreas(1)	1						c.(730-732)CAT>TAT		potassium channel tetramerisation domain							130.0	133.0	132.0					11																	77884871		2200	4292	6492	SO:0001583	missense	283219					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:77884871G>A	AK095233	CCDS31645.1	11q14.1	2013-06-20	2013-06-20			ENSG00000188997			27452	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 21"""			21472142	Standard	XM_005273925		Approved	KCASH2	uc001ozb.3	Q4G0X4		ENST00000340067.3:c.730C>T	11.37:g.77884871G>A	ENSP00000339340:p.His244Tyr						p.H244Y	NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)		2	805	-	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		244					B4DTR0	Missense_Mutation	SNP	ENST00000340067.3	37	c.730C>T	CCDS31645.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.896214	0.52121	.	.	ENSG00000188997	ENST00000340067	T	0.52295	0.67	6.03	6.03	0.97812	.	0.103160	0.42420	D	0.000711	T	0.27169	0.0666	N	0.08118	0	0.35782	D	0.82173	P	0.34934	0.476	B	0.22152	0.038	T	0.28138	-1.0053	10	0.23302	T	0.38	.	18.7374	0.91761	0.0:0.0:1.0:0.0	.	244	Q4G0X4	KCD21_HUMAN	Y	244	ENSP00000339340:H244Y	ENSP00000339340:H244Y	H	-	1	0	KCTD21	77562519	1.000000	0.71417	0.856000	0.33681	0.982000	0.71751	4.219000	0.58561	2.861000	0.98227	0.655000	0.94253	CAT		0.478	KCTD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390057.1	NM_001029859		66	241	0	0	0	0	66	241				
ME3	10873	broad.mit.edu	37	11	86160950	86160950	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:86160950G>C	ENST00000393324.3	-	9	1365	c.1112C>G	c.(1111-1113)tCt>tGt	p.S371C	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000543262.1_Missense_Mutation_p.S371C|ME3_ENST00000359636.2_Missense_Mutation_p.S371C	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	371					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				GAGCCCTTTAGAGTCCACCAT	0.522																																						uc001pbz.2		NA																	0				ovary(1)	1						c.(1111-1113)TCT>TGT		mitochondrial malic enzyme 3 precursor	NADH(DB00157)						182.0	169.0	174.0					11																	86160950		2202	4299	6501	SO:0001583	missense	10873				aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding	g.chr11:86160950G>C	X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.1112C>G	11.37:g.86160950G>C	ENSP00000376998:p.Ser371Cys					ME3_uc001pca.2_Missense_Mutation_p.S371C|ME3_uc009yvk.2_Missense_Mutation_p.S371C|ME3_uc010rtr.1_RNA	p.S371C	NM_001014811	NP_001014811	Q16798	MAON_HUMAN			9	1366	-		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)	371					B7Z6V0|Q8TBJ0	Missense_Mutation	SNP	ENST00000393324.3	37	c.1112C>G	CCDS8277.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171481	0.78452	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.7	4.78	0.61160	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.098299	0.64402	D	0.000001	T	0.64483	0.2602	H	0.95402	3.665	0.80722	D	1	P	0.39157	0.662	P	0.50082	0.63	T	0.73452	-0.3978	9	.	.	.	.	14.4023	0.67056	0.0706:0.0:0.9294:0.0	.	371	Q16798	MAON_HUMAN	C	371	ENSP00000352657:S371C;ENSP00000440246:S371C;ENSP00000376998:S371C;ENSP00000431182:S371C	.	S	-	2	0	ME3	85838598	1.000000	0.71417	0.393000	0.26258	0.977000	0.68977	9.725000	0.98778	1.416000	0.47057	0.650000	0.86243	TCT		0.522	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2			75	160	0	0	0	0	75	160				
CCDC67	159989	broad.mit.edu	37	11	93127665	93127665	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:93127665C>G	ENST00000298050.3	+	10	1182	c.1082C>G	c.(1081-1083)tCt>tGt	p.S361C	CCDC67_ENST00000525646.1_Missense_Mutation_p.S103C	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	361					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TACCATAACTCTGAGCAGGAA	0.393																																						uc001pdq.2		NA																	0				ovary(1)	1						c.(1081-1083)TCT>TGT		coiled-coil domain containing 67							62.0	56.0	58.0					11																	93127665		1863	4090	5953	SO:0001583	missense	159989							g.chr11:93127665C>G	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.1082C>G	11.37:g.93127665C>G	ENSP00000298050:p.Ser361Cys					CCDC67_uc001pdo.1_Missense_Mutation_p.S361C|CCDC67_uc001pdp.2_Missense_Mutation_p.S361C	p.S361C	NM_181645	NP_857596	Q05D60	CCD67_HUMAN			10	1182	+		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)	361			Potential.		Q8NEF1|Q96LL7	Missense_Mutation	SNP	ENST00000298050.3	37	c.1082C>G	CCDS44707.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473609	0.26423	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000525646	T;T;T	0.23552	1.9;1.9;1.9	5.43	3.5	0.40072	.	0.373872	0.26424	N	0.024451	T	0.28101	0.0693	L	0.55213	1.73	0.35232	D	0.777005	B;B;B	0.29085	0.145;0.058;0.232	B;B;B	0.29176	0.099;0.04;0.099	T	0.36817	-0.9732	10	0.87932	D	0	.	15.3488	0.74368	0.0:0.6003:0.3997:0.0	.	361;361;353	Q05D60;E9PJR5;Q6ZRU6	CCD67_HUMAN;.;.	C	361;361;103	ENSP00000432111:S361C;ENSP00000298050:S361C;ENSP00000435079:S103C	ENSP00000298050:S361C	S	+	2	0	CCDC67	92767313	1.000000	0.71417	0.936000	0.37596	0.675000	0.39556	1.329000	0.33770	0.613000	0.30089	0.591000	0.81541	TCT		0.393	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		9	13	0	0	0	0	9	13				
MED17	9440	broad.mit.edu	37	11	93523943	93523943	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:93523943G>A	ENST00000251871.3	+	3	908	c.621G>A	c.(619-621)ctG>ctA	p.L207L		NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	207					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCGGAGATCTGAGCTACAGAA	0.418																																						uc001pem.3		NA																	0				ovary(1)	1						c.(619-621)CTG>CTA		mediator complex subunit 17							55.0	56.0	56.0					11																	93523943		2201	4298	6499	SO:0001819	synonymous_variant	9440				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr11:93523943G>A	AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.621G>A	11.37:g.93523943G>A							p.L207L	NM_004268	NP_004259	Q9NVC6	MED17_HUMAN			3	896	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	207					B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Silent	SNP	ENST00000251871.3	37	c.621G>A	CCDS8295.1																																																																																				0.418	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268		16	69	0	0	0	0	16	69				
CNTN5	53942	broad.mit.edu	37	11	99786823	99786823	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:99786823C>T	ENST00000524871.1	+	7	905	c.615C>T	c.(613-615)gtC>gtT	p.V205V	CNTN5_ENST00000527185.1_Silent_p.V205V|CNTN5_ENST00000418526.2_Silent_p.V131V|CNTN5_ENST00000528682.1_Silent_p.V205V|CNTN5_ENST00000279463.3_Silent_p.V205V	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	205	Ig-like C2-type 2.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GAAGTGCAGTCTCTGTGAGGG	0.453																																						uc001pga.2		NA																	0				skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(613-615)GTC>GTT		contactin 5 isoform long							140.0	143.0	142.0					11																	99786823		2030	4184	6214	SO:0001819	synonymous_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99786823C>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.615C>T	11.37:g.99786823C>T						CNTN5_uc009ywv.1_Silent_p.V205V|CNTN5_uc001pfz.2_Silent_p.V205V|CNTN5_uc001pgb.2_Silent_p.V131V	p.V205V	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	7	954	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	205			Ig-like C2-type 2.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	c.615C>T	CCDS53696.1																																																																																				0.453	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		10	25	0	0	0	0	10	25				
DDI1	414301	broad.mit.edu	37	11	103908514	103908514	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:103908514G>A	ENST00000302259.3	+	1	1207	c.964G>A	c.(964-966)Gag>Aag	p.E322K	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	322							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CTCCATACTTGAGGATCAACC	0.448																																						uc001phr.2		NA																	0				large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(964-966)GAG>AAG		DDI1, DNA-damage inducible 1, homolog 1							136.0	127.0	130.0					11																	103908514		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908514G>A		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.964G>A	11.37:g.103908514G>A	ENSP00000302805:p.Glu322Lys					PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	p.E322K	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	1207	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	322					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.964G>A	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893254	0.33442	.	.	ENSG00000170967	ENST00000302259	T	0.50001	0.76	5.21	4.29	0.51040	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.51160	0.1658	M	0.81497	2.545	0.43058	D	0.994674	P	0.39326	0.668	B	0.37480	0.251	T	0.60915	-0.7168	10	0.56958	D	0.05	-13.2733	13.8723	0.63626	0.0:0.1541:0.8459:0.0	.	322	Q8WTU0	DDI1_HUMAN	K	322	ENSP00000302805:E322K	ENSP00000302805:E322K	E	+	1	0	DDI1	103413724	1.000000	0.71417	0.123000	0.21794	0.063000	0.16089	7.224000	0.78042	1.560000	0.49568	-0.175000	0.13238	GAG		0.448	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		47	156	0	0	0	0	47	156				
TMPRSS5	80975	broad.mit.edu	37	11	113563881	113563881	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:113563881C>G	ENST00000299882.5	-	9	1024	c.876G>C	c.(874-876)gaG>gaC	p.E292D	TMPRSS5_ENST00000536856.1_Missense_Mutation_p.E33D|TMPRSS5_ENST00000544634.1_Missense_Mutation_p.E223D|TMPRSS5_ENST00000538955.1_Missense_Mutation_p.E248D|TMPRSS5_ENST00000545579.1_Missense_Mutation_p.E283D|TMPRSS5_ENST00000545265.1_5'UTR|TMPRSS5_ENST00000544476.1_Missense_Mutation_p.E179D|TMPRSS5_ENST00000540540.1_Missense_Mutation_p.E33D	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	292	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		GGATAATCCTCTCCACCAGAG	0.637																																						uc001poc.3		NA																	0				ovary(1)	1						c.(874-876)GAG>GAC		transmembrane protease, serine 5							27.0	35.0	32.0					11																	113563881		1956	4148	6104	SO:0001583	missense	80975				proteolysis	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:113563881C>G	AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"""Serine peptidases / Transmembrane"""	14908	protein-coding gene	gene with protein product	"""spinesin"""	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.876G>C	11.37:g.113563881C>G	ENSP00000299882:p.Glu292Asp					TMPRSS5_uc009yys.2_Missense_Mutation_p.E283D|TMPRSS5_uc009yyt.2_Missense_Mutation_p.E248D|TMPRSS5_uc001pod.3_Missense_Mutation_p.E33D|TMPRSS5_uc010rww.1_Missense_Mutation_p.E213D|TMPRSS5_uc009yyu.2_Missense_Mutation_p.E33D|TMPRSS5_uc010rwx.1_Missense_Mutation_p.E179D	p.E292D	NM_030770	NP_110397	Q9H3S3	TMPS5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)	9	998	-		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	292			Peptidase S1.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000299882.5	37	c.876G>C	CCDS44735.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.976516	0.53720	.	.	ENSG00000166682	ENST00000536856;ENST00000540540;ENST00000299882;ENST00000545579;ENST00000538955;ENST00000544634;ENST00000544476	D;D;D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51	5.38	2.36	0.29203	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.065317	0.64402	D	0.000016	T	0.75102	0.3804	N	0.11000	0.08	0.28421	N	0.917709	P;P;P;B	0.48503	0.473;0.911;0.799;0.024	B;B;B;B	0.42593	0.135;0.392;0.295;0.042	T	0.70802	-0.4773	10	0.52906	T	0.07	.	4.6391	0.12540	0.0:0.5713:0.1668:0.2619	.	223;33;283;292	F5GYA3;G5EA47;F5GX83;Q9H3S3	.;.;.;TMPS5_HUMAN	D	33;33;292;283;248;223;179	ENSP00000437937:E33D;ENSP00000437761:E33D;ENSP00000299882:E292D;ENSP00000441104:E283D;ENSP00000445528:E248D;ENSP00000440783:E223D;ENSP00000445930:E179D	ENSP00000299882:E292D	E	-	3	2	TMPRSS5	113069091	0.997000	0.39634	0.998000	0.56505	0.344000	0.29017	0.446000	0.21694	1.201000	0.43203	0.462000	0.41574	GAG		0.637	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398652.1	NM_030770		6	9	0	0	0	0	6	9				
HTR3B	9177	broad.mit.edu	37	11	113816676	113816676	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:113816676C>T	ENST00000260191.2	+	9	1400	c.1143C>T	c.(1141-1143)gtC>gtT	p.V381V	HTR3B_ENST00000537778.1_Silent_p.V370V	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	381	HA-stretch.				cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	TGAAGGAAGTCTGGTCGCAGC	0.572																																						uc001pok.2		NA																	0					0						c.(1141-1143)GTC>GTT		5-hydroxytryptamine (serotonin) receptor 3B							86.0	75.0	79.0					11																	113816676		2201	4296	6497	SO:0001819	synonymous_variant	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113816676C>T	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5298	protein-coding gene	gene with protein product		604654	"""5-hydroxytryptamine (serotonin) receptor 3B"""			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.1143C>T	11.37:g.113816676C>T						HTR3B_uc001pol.2_Silent_p.V370V	p.V381V	NM_006028	NP_006019	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	9	1210	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	381			Cytoplasmic (Potential).|HA-stretch.		B0YJ23|Q0VJC3	Silent	SNP	ENST00000260191.2	37	c.1143C>T	CCDS8364.1																																																																																				0.572	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		23	56	0	0	0	0	23	56				
SIK3	23387	broad.mit.edu	37	11	116730264	116730264	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:116730264G>A	ENST00000292055.4	-	19	2199	c.2164C>T	c.(2164-2166)Cag>Tag	p.Q722*	SIK3_ENST00000542607.1_Nonsense_Mutation_p.Q722*|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375288.1_Nonsense_Mutation_p.Q117*|SIK3_ENST00000434315.2_Nonsense_Mutation_p.Q621*|SIK3_ENST00000446921.2_Nonsense_Mutation_p.Q780*|SIK3_ENST00000375300.1_Nonsense_Mutation_p.Q780*	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	722	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCAGGTTGCTGCTGAAAGATT	0.552											OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001ppy.2		NA																	0				ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						c.(2164-2166)CAG>TAG		serine/threonine-protein kinase QSK							102.0	97.0	99.0					11																	116730264		2201	4296	6497	SO:0001587	stop_gained	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116730264G>A	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2164C>T	11.37:g.116730264G>A	ENSP00000292055:p.Gln722*		OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1475	SIK3_uc001ppz.2_Nonsense_Mutation_p.Q621*|SIK3_uc001pqa.2_Nonsense_Mutation_p.Q722*|SIK3_uc001ppw.2_Nonsense_Mutation_p.Q139*|SIK3_uc001ppx.2_Nonsense_Mutation_p.Q160*|SIK3_uc001pqb.2_Nonsense_Mutation_p.Q25*	p.Q722*	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN			19	2200	-			722			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Nonsense_Mutation	SNP	ENST00000292055.4	37	c.2164C>T	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.955510|6.955510	0.97960|0.97960	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921|ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315	.|.	.|.	.|.	4.05|4.05	4.05|4.05	0.47172|0.47172	.|.	.|0.000000	.|0.39475	.|U	.|0.001351	T|.	0.65616|.	0.2708|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.75803|.	-0.3189|.	3|.	.|0.62326	.|D	.|0.03	.|.	12.0043|12.0043	0.53251|0.53251	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|X	821;744|780;722;117;722;621	.|.	.|ENSP00000292055:Q722X	A|Q	-|-	2|1	0|0	SIK3|SIK3	116235474|116235474	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.010000|0.010000	0.07245|0.07245	5.890000|5.890000	0.69774|0.69774	2.527000|2.527000	0.85204|0.85204	0.561000|0.561000	0.74099|0.74099	GCA|CAG		0.552	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		29	104	0	0	0	0	29	104				
PCSK7	9159	broad.mit.edu	37	11	117098989	117098989	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:117098989C>T	ENST00000320934.3	-	4	1176	c.546G>A	c.(544-546)acG>acA	p.T182T		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	182	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CTACCACCACCGTCACCCCTC	0.582			T	IGH@	MLCLS																																	uc001pqr.2		NA		Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0					0						c.(544-546)ACG>ACA		proprotein convertase subtilisin/kexin type 7							255.0	141.0	180.0					11																	117098989		2201	4296	6497	SO:0001819	synonymous_variant	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117098989C>T	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.546G>A	11.37:g.117098989C>T							p.T182T	NM_004716	NP_004707	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	4	747	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	182			Catalytic.|Extracellular (Potential).		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Silent	SNP	ENST00000320934.3	37	c.546G>A	CCDS8382.1																																																																																				0.582	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		12	24	0	0	0	0	12	24				
CD3D	915	broad.mit.edu	37	11	118210614	118210614	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:118210614C>G	ENST00000300692.4	-	3	418	c.282G>C	c.(280-282)caG>caC	p.Q94H	CD3D_ENST00000392884.2_Intron|CD3D_ENST00000529594.1_Missense_Mutation_p.Q21H	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	94					cell surface receptor signaling pathway (GO:0007166)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive thymic T cell selection (GO:0045059)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	CCACACAGCTCTGGCACACTG	0.547																																						uc001pss.1		NA																	0				ovary(1)	1						c.(280-282)CAG>CAC		CD3 antigen, delta subunit isoform A precursor							62.0	54.0	57.0					11																	118210614		2200	4296	6496	SO:0001583	missense	915				positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity	g.chr11:118210614C>G	X01451	CCDS8394.1, CCDS41724.1	11q23	2014-09-17	2006-03-28		ENSG00000167286	ENSG00000167286		"""CD molecules"""	1673	protein-coding gene	gene with protein product		186790	"""CD3d antigen, delta polypeptide (TiT3 complex)"""	T3D			Standard	NM_000732		Approved		uc001pss.1	P04234	OTTHUMG00000166970	ENST00000300692.4:c.282G>C	11.37:g.118210614C>G	ENSP00000300692:p.Gln94His					CD3D_uc001pst.1_Intron	p.Q94H	NM_000732	NP_000723	P04234	CD3D_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	3	419	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	94			Extracellular (Potential).		A8MVP6	Missense_Mutation	SNP	ENST00000300692.4	37	c.282G>C	CCDS8394.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088984	0.76756	.	.	ENSG00000167286	ENST00000300692;ENST00000529594	T;T	0.66280	1.97;-0.2	5.66	4.75	0.60458	Immunoglobulin-like fold (1);	0.120375	0.64402	D	0.000019	T	0.79879	0.4522	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82000	-0.0674	10	0.59425	D	0.04	-20.5567	10.6014	0.45369	0.0:0.9115:0.0:0.0885	.	94	P04234	CD3D_HUMAN	H	94;21	ENSP00000300692:Q94H;ENSP00000437335:Q21H	ENSP00000300692:Q94H	Q	-	3	2	CD3D	117715824	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.166000	0.31834	1.409000	0.46915	0.655000	0.94253	CAG		0.547	CD3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392128.1	NM_000732		21	74	0	0	0	0	21	74				
PHLDB1	23187	broad.mit.edu	37	11	118499169	118499169	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:118499169C>T	ENST00000361417.2	+	7	2041	c.1630C>T	c.(1630-1632)Ctg>Ttg	p.L544L	PHLDB1_ENST00000356063.5_Silent_p.L544L	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	544										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGCCTACAGTCTGGGCTCTCT	0.642																																						uc001ptr.1		NA																	0					0						c.(1630-1632)CTG>TTG		pleckstrin homology-like domain, family B,							12.0	14.0	14.0					11																	118499169		2195	4286	6481	SO:0001819	synonymous_variant	23187							g.chr11:118499169C>T		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1630C>T	11.37:g.118499169C>T						PHLDB1_uc001pts.2_Silent_p.L544L|PHLDB1_uc001ptt.2_Silent_p.L544L|PHLDB1_uc001ptu.1_Intron|PHLDB1_uc001ptv.1_Silent_p.L344L|PHLDB1_uc001ptw.1_5'Flank	p.L544L	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	1983	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	544					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	c.1630C>T	CCDS8401.1																																																																																				0.642	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		11	24	0	0	0	0	11	24				
MCAM	4162	broad.mit.edu	37	11	119185721	119185721	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:119185721G>A	ENST00000264036.4	-	3	236	c.222C>T	c.(220-222)ttC>ttT	p.F74F	MCAM_ENST00000530144.2_5'UTR|MCAM_ENST00000392814.1_5'Flank	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	74	Ig-like V-type 1.				anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GGCGCACACGGAAGATGAGCG	0.647																																						uc001pwf.2		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(220-222)TTC>TTT		melanoma cell adhesion molecule							63.0	68.0	66.0					11																	119185721		2199	4295	6494	SO:0001819	synonymous_variant	4162				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		g.chr11:119185721G>A	X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.222C>T	11.37:g.119185721G>A							p.F74F	NM_006500	NP_006491	P43121	MUC18_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	3	251	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	74			Extracellular (Potential).|Ig-like V-type 1.		O95812|Q59E86|Q6PHR3|Q6ZTR2	Silent	SNP	ENST00000264036.4	37	c.222C>T	CCDS31690.1																																																																																				0.647	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2			56	156	0	0	0	0	56	156				
VSIG2	23584	broad.mit.edu	37	11	124621364	124621364	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:124621364C>G	ENST00000326621.5	-	2	274	c.174G>C	c.(172-174)gaG>gaC	p.E58D	VSIG2_ENST00000403470.1_Missense_Mutation_p.E58D	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	58	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CAAAGCTCCACTCCAGGGCGA	0.627																																						uc001qas.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(172-174)GAG>GAC		V-set and immunoglobulin domain containing 2							109.0	81.0	90.0					11																	124621364		2201	4299	6500	SO:0001583	missense	23584					integral to plasma membrane|membrane fraction		g.chr11:124621364C>G	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.174G>C	11.37:g.124621364C>G	ENSP00000318684:p.Glu58Asp					VSIG2_uc001qat.2_Missense_Mutation_p.E58D	p.E58D	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	2	250	-	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	58			Extracellular (Potential).|Ig-like V-type.		O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	c.174G>C	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.834934	0.71373	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.65732	-0.17;-0.17	4.62	2.59	0.31030	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.269718	0.29225	N	0.012772	T	0.55305	0.1912	L	0.31578	0.945	0.28995	N	0.887833	P	0.51240	0.943	P	0.54401	0.751	T	0.48833	-0.9000	10	0.40728	T	0.16	.	5.0201	0.14356	0.0:0.6822:0.0:0.3178	.	58	Q96IQ7	VSIG2_HUMAN	D	58	ENSP00000318684:E58D;ENSP00000385013:E58D	ENSP00000318684:E58D	E	-	3	2	VSIG2	124126574	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.134000	0.42102	1.164000	0.42652	0.655000	0.94253	GAG		0.627	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		34	112	0	0	0	0	34	112				
CDON	50937	broad.mit.edu	37	11	125830980	125830980	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:125830980C>A	ENST00000392693.3	-	20	3848	c.3721G>T	c.(3721-3723)Gaa>Taa	p.E1241*	CDON_ENST00000531738.1_Nonsense_Mutation_p.E595*|RP11-680F20.12_ENST00000582823.1_RNA|CDON_ENST00000263577.7_Nonsense_Mutation_p.E1218*	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1241					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		ATCTCTGTTTCTGAATGGGCA	0.443																																						uc009zbw.2		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(3721-3723)GAA>TAA		surface glycoprotein, Ig superfamily member							87.0	86.0	86.0					11																	125830980		2201	4299	6500	SO:0001587	stop_gained	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125830980C>A	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.3721G>T	11.37:g.125830980C>A	ENSP00000376458:p.Glu1241*					CDON_uc001qdb.3_Nonsense_Mutation_p.E595*|CDON_uc001qdc.3_Nonsense_Mutation_p.E1218*	p.E1241*	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	20	3849	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	1241			Cytoplasmic (Potential).		O14631	Nonsense_Mutation	SNP	ENST00000392693.3	37	c.3721G>T	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	C	37	6.047430	0.97236	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	.	.	.	5.46	5.46	0.80206	.	0.000000	0.46442	D	0.000283	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-21.4219	17.2838	0.87136	0.0:1.0:0.0:0.0	.	.	.	.	X	1241;595;1218	.	ENSP00000263577:E1218X	E	-	1	0	CDON	125336190	1.000000	0.71417	0.961000	0.40146	0.007000	0.05969	4.526000	0.60566	2.840000	0.97914	0.655000	0.94253	GAA		0.443	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		18	49	1	0	2.94e-08	3.06e-08	18	49				
GLB1L3	112937	broad.mit.edu	37	11	134182365	134182365	+	Silent	SNP	C	C	T	rs561657811		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:134182365C>T	ENST00000431683.2	+	14	1410	c.1410C>T	c.(1408-1410)caC>caT	p.H470H		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	470					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TCCGTGCCCACGCTCATGACG	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19521	0.0		0.0	False		,,,				2504	0.0					uc009zdf.2		NA																	0				pancreas(1)	1						c.(1408-1410)CAC>CAT		galactosidase, beta 1 like 3							33.0	37.0	36.0					11																	134182365		2114	4231	6345	SO:0001819	synonymous_variant	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134182365C>T		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1410C>T	11.37:g.134182365C>T						GLB1L3_uc001qho.3_RNA	p.H470H	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	14	1770	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	470					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Silent	SNP	ENST00000431683.2	37	c.1410C>T	CCDS44780.1																																																																																				0.587	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		18	56	0	0	0	0	18	56				
LRTM2	654429	broad.mit.edu	37	12	1943843	1943843	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:1943843G>T	ENST00000543818.1	+	5	1911	c.1069G>T	c.(1069-1071)Gag>Tag	p.E357*	CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000535041.1_Nonsense_Mutation_p.E357*|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000543730.1_3'UTR|LRTM2_ENST00000299194.1_Nonsense_Mutation_p.E357*	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	357						integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GGGGGACCCCGAGGGCGAGCA	0.652																																						uc001qjt.2		NA																	0				large_intestine(1)	1						c.(1069-1071)GAG>TAG		leucine-rich repeats and transmembrane domains 2							41.0	43.0	42.0					12																	1943843		2201	4293	6494	SO:0001587	stop_gained	654429					integral to membrane		g.chr12:1943843G>T	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.1069G>T	12.37:g.1943843G>T	ENSP00000446278:p.Glu357*					CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Nonsense_Mutation_p.E357*|LRTM2_uc010sdx.1_Nonsense_Mutation_p.E357*|LRTM2_uc001qjv.2_Nonsense_Mutation_p.E119*	p.E357*	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		5	1875	+	Ovarian(42;0.107)		357			Cytoplasmic (Potential).		A7E2U6	Nonsense_Mutation	SNP	ENST00000543818.1	37	c.1069G>T	CCDS31726.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	9.106428|9.106428	0.99068|0.99068	.|.	.|.	ENSG00000166159|ENSG00000166159	ENST00000543818;ENST00000299194;ENST00000535041|ENST00000424079	.|.	.|.	.|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.094433|.	0.64402|.	D|.	0.000001|.	.|T	.|0.78748	.|0.4332	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.81640	.|-0.0841	.|5	0.66056|0.87932	D|D	0.02|0	.|.	18.9667|18.9667	0.92700|0.92700	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	357|113	.|.	ENSP00000299194:E357X|ENSP00000394967:R113L	E|R	+|+	1|2	0|0	LRTM2|LRTM2	1814104|1814104	1.000000|1.000000	0.71417|0.71417	0.933000|0.933000	0.37362|0.37362	0.843000|0.843000	0.47879|0.47879	7.863000|7.863000	0.87023|0.87023	2.480000|2.480000	0.83734|0.83734	0.561000|0.561000	0.74099|0.74099	GAG|CGA		0.652	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1			31	79	1	0	3.93e-24	4.21e-24	31	79				
CACNA1C	775	broad.mit.edu	37	12	2774834	2774834	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:2774834G>C	ENST00000347598.4	+	38	4630	c.4630G>C	c.(4630-4632)Gag>Cag	p.E1544Q	CACNA1C_ENST00000402845.3_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399655.1_Missense_Mutation_p.E1496Q|CACNA1C-AS2_ENST00000545526.1_RNA|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E1521Q|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E1524Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E1485Q|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E1516Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E1483Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E1485Q|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E1513Q|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E1518Q|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E1496Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E1496Q	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1544	Dihydropyridine binding. {ECO:0000250}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCACCTGGATGAGTTTAAAAG	0.493																																						uc009zdu.1		NA																	0		p.L1544V(1)		ovary(10)|central_nervous_system(1)	11						c.(4630-4632)GAG>CAG		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						87.0	89.0	88.0					12																	2774834		2152	4286	6438	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2774834G>C	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4630G>C	12.37:g.2774834G>C	ENSP00000266376:p.Glu1544Gln					CACNA1C_uc009zdv.1_Missense_Mutation_p.E1493Q|CACNA1C_uc001qkb.2_Missense_Mutation_p.E1496Q|CACNA1C_uc001qkc.2_Missense_Mutation_p.E1496Q|CACNA1C_uc001qke.2_Missense_Mutation_p.E1485Q|CACNA1C_uc001qkf.2_Missense_Mutation_p.E1485Q|CACNA1C_uc001qjz.2_Missense_Mutation_p.E1496Q|CACNA1C_uc001qkd.2_Missense_Mutation_p.E1496Q|CACNA1C_uc001qkg.2_Missense_Mutation_p.E1483Q|CACNA1C_uc009zdw.1_Missense_Mutation_p.E1518Q|CACNA1C_uc001qkh.2_Missense_Mutation_p.E1485Q|CACNA1C_uc001qkl.2_Missense_Mutation_p.E1544Q|CACNA1C_uc001qkn.2_Missense_Mutation_p.E1496Q|CACNA1C_uc001qko.2_Missense_Mutation_p.E1516Q|CACNA1C_uc001qkp.2_Missense_Mutation_p.E1496Q|CACNA1C_uc001qkr.2_Missense_Mutation_p.E1513Q|CACNA1C_uc001qku.2_Missense_Mutation_p.E1496Q|CACNA1C_uc001qkq.2_Missense_Mutation_p.E1524Q|CACNA1C_uc001qks.2_Missense_Mutation_p.E1496Q|CACNA1C_uc001qkt.2_Missense_Mutation_p.E1496Q|CACNA1C_uc001qki.1_Missense_Mutation_p.E1232Q|CACNA1C_uc001qkj.1_Missense_Mutation_p.E1232Q|CACNA1C_uc001qkk.1_Missense_Mutation_p.E1232Q|CACNA1C_uc001qkm.1_Missense_Mutation_p.E1221Q|CACNA1C_uc010sea.1_Missense_Mutation_p.E187Q	p.E1544Q	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	38	4943	+			1544			Dihydropyridine binding (By similarity).|Cytoplasmic (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.4630G>C	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862448	0.91511	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96885	-4.11;-4.1;-4.1;-4.12;-4.1;-4.12;-4.01;-4.04;-4.1;-4.05;-4.02;-4.1;-4.16;-4.03;-3.94;-4.16;-4.11;-4.1;-4.11;-4.04;-4.11;-4.16	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.98469	0.9490	M	0.89904	3.07	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;1.0;0.997;0.999;0.999;0.998;1.0;1.0;0.999;0.999;0.999;0.998;0.997;0.997;0.996;1.0;0.999;1.0;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.996;0.993;0.996;0.996;0.993;0.997;0.996;0.998;1.0;1.0;0.997;0.995;0.99;0.998;0.986;0.995;0.986;1.0;0.997;0.998;0.995;0.997;0.997;0.997;0.996	D	0.99285	1.0897	10	0.87932	D	0	.	18.714	0.91668	0.0:0.0:1.0:0.0	.	187;1518;1493;1544;1496;1496;1496;1513;1524;1496;1516;1496;1456;1544;1496;1496;1496;1485;1483;1485;1485;1496;1496;1496;1496	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	Q	1521;1496;1496;1524;1496;1496;1496;1485;1496;1544;1516;1496;1518;1513;1496;1483;1496;1496;1496;1496;1496;1485;1326	ENSP00000336982:E1521Q;ENSP00000382563:E1496Q;ENSP00000382552:E1496Q;ENSP00000382547:E1524Q;ENSP00000382506:E1496Q;ENSP00000382530:E1496Q;ENSP00000382546:E1496Q;ENSP00000382500:E1485Q;ENSP00000382549:E1496Q;ENSP00000266376:E1544Q;ENSP00000382515:E1516Q;ENSP00000382510:E1496Q;ENSP00000341092:E1518Q;ENSP00000382537:E1513Q;ENSP00000329877:E1496Q;ENSP00000382557:E1483Q;ENSP00000385724:E1496Q;ENSP00000382512:E1496Q;ENSP00000382542:E1496Q;ENSP00000382526:E1496Q;ENSP00000385896:E1496Q;ENSP00000382504:E1485Q	ENSP00000323129:E1326Q	E	+	1	0	CACNA1C	2645095	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.601000	0.98297	2.727000	0.93392	0.591000	0.81541	GAG		0.493	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		29	56	0	0	0	0	29	56				
FKBP4	2288	broad.mit.edu	37	12	2907035	2907035	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:2907035G>C	ENST00000001008.4	+	3	578	c.391G>C	c.(391-393)Gag>Cag	p.E131Q	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	131	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			GCTTGTATTTGAGGTGAGTGT	0.552																																						uc001qkz.2		NA																	0					0						c.(391-393)GAG>CAG		FK506 binding protein 52	Dimethyl sulfoxide(DB01093)						134.0	117.0	122.0					12																	2907035		2203	4300	6503	SO:0001583	missense	2288				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging	g.chr12:2907035G>C	M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"""Tetratricopeptide (TTC) repeat domain containing"""	3720	protein-coding gene	gene with protein product		600611	"""FK506-binding protein 4 (59kD)"""			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.391G>C	12.37:g.2907035G>C	ENSP00000001008:p.Glu131Gln						p.E131Q	NM_002014	NP_002005	Q02790	FKBP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00105)		3	589	+			131			PPIase FKBP-type 1.		D3DUQ1|Q9UCP1|Q9UCV7	Missense_Mutation	SNP	ENST00000001008.4	37	c.391G>C	CCDS8512.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.574698	0.65878	.	.	ENSG00000004478	ENST00000001008;ENST00000538622	T;T	0.59906	0.23;0.23	5.89	5.89	0.94794	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.045481	0.85682	D	0.000000	T	0.73257	0.3564	M	0.91090	3.175	0.80722	D	1	P	0.45531	0.86	P	0.45946	0.498	T	0.78494	-0.2182	10	0.52906	T	0.07	-27.4022	19.2317	0.93842	0.0:0.0:1.0:0.0	.	131	Q02790	FKBP4_HUMAN	Q	131;86	ENSP00000001008:E131Q;ENSP00000446368:E86Q	ENSP00000001008:E131Q	E	+	1	0	FKBP4	2777296	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.817000	0.69229	2.795000	0.96236	0.655000	0.94253	GAG		0.552	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1			50	156	0	0	0	0	50	156				
DYRK4	8798	broad.mit.edu	37	12	4705759	4705759	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:4705759C>A	ENST00000540757.2	+	6	584	c.424C>A	c.(424-426)Cac>Aac	p.H142N	DYRK4_ENST00000010132.5_Missense_Mutation_p.H142N|DYRK4_ENST00000543431.1_Missense_Mutation_p.H142N	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	142	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CCTTAGGTTTCACCAGCAGGC	0.527																																						uc001qmx.2		NA																	0				lung(2)|skin(1)	3						c.(424-426)CAC>AAC		dual-specificity tyrosine-(Y)-phosphorylation							61.0	57.0	58.0					12																	4705759		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4705759C>A	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.424C>A	12.37:g.4705759C>A	ENSP00000441755:p.His142Asn					DYRK4_uc009zeh.1_Missense_Mutation_p.H257N|DYRK4_uc001qmy.1_Missense_Mutation_p.H142N	p.H142N	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		6	584	+			142			Protein kinase.		A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.424C>A	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023244	0.93462	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63058	0.2479	N	0.05078	-0.115	0.80722	D	1	D;P;P	0.64830	0.994;0.878;0.938	D;P;P	0.75484	0.986;0.606;0.869	T	0.72795	-0.4185	10	0.87932	D	0	.	17.1192	0.86697	0.0:1.0:0.0:0.0	.	257;142;142	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	N	257;142;142;142	ENSP00000437534:H257N;ENSP00000441755:H142N;ENSP00000010132:H142N;ENSP00000439697:H142N	ENSP00000010132:H142N	H	+	1	0	DYRK4	4576020	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.319000	0.79040	2.570000	0.86706	0.655000	0.94253	CAC		0.527	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			16	34	1	0	5.35e-07	5.55e-07	16	34				
AKAP3	10566	broad.mit.edu	37	12	4737844	4737844	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:4737844C>G	ENST00000545990.2	-	5	748	c.224G>C	c.(223-225)gGa>gCa	p.G75A	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.G75A	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	75					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GTGTGGGTCTCCTGAGTTGGA	0.488																																						uc001qnb.3		NA																	0				skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						c.(223-225)GGA>GCA		A-kinase anchor protein 3							105.0	93.0	97.0					12																	4737844		2203	4300	6503	SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4737844C>G	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.224G>C	12.37:g.4737844C>G	ENSP00000440994:p.Gly75Ala						p.G75A	NM_006422	NP_006413	O75969	AKAP3_HUMAN			4	453	-			75					O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	c.224G>C	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	c	3.472	-0.107685	0.06924	.	.	ENSG00000111254	ENST00000228850;ENST00000545990;ENST00000540967;ENST00000536414	T;T;T	0.31510	3.54;3.54;1.49	4.96	-7.43	0.01383	.	1.001960	0.08048	N	0.996123	T	0.24353	0.0590	M	0.66939	2.045	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38478	-0.9659	10	0.66056	D	0.02	0.197	3.7596	0.08599	0.1893:0.1469:0.4673:0.1966	.	75	O75969	AKAP3_HUMAN	A	75	ENSP00000228850:G75A;ENSP00000440994:G75A;ENSP00000442376:G75A	ENSP00000228850:G75A	G	-	2	0	AKAP3	4608105	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.642000	0.05427	-1.754000	0.01321	-0.731000	0.03576	GGA		0.488	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		46	92	0	0	0	0	46	92				
GNB3	2784	broad.mit.edu	37	12	6952355	6952355	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:6952355C>A	ENST00000229264.3	+	6	626	c.221C>A	c.(220-222)tCg>tAg	p.S74*	CDCA3_ENST00000604599.1_5'Flank|GNB3_ENST00000435982.2_Nonsense_Mutation_p.S74*	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	74					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GTAAGTGCCTCGCAAGATGGG	0.612																																						uc001qrd.2		NA																	0					0						c.(220-222)TCG>TAG		guanine nucleotide-binding protein, beta-3							190.0	164.0	172.0					12																	6952355		2203	4300	6503	SO:0001587	stop_gained	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6952355C>A		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.221C>A	12.37:g.6952355C>A	ENSP00000229264:p.Ser74*					GNB3_uc001qrc.2_Nonsense_Mutation_p.S30*|GNB3_uc009zfe.2_Nonsense_Mutation_p.S74*	p.S74*	NM_002075	NP_002066	P16520	GBB3_HUMAN			6	626	+			74			WD 1.		Q96B71|Q9BQC0	Nonsense_Mutation	SNP	ENST00000229264.3	37	c.221C>A	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	C	31	5.094622	0.94149	.	.	ENSG00000111664	ENST00000229264;ENST00000541257;ENST00000541978;ENST00000435982;ENST00000537035	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.2854	18.2057	0.89853	0.0:1.0:0.0:0.0	.	.	.	.	X	74	.	ENSP00000229264:S74X	S	+	2	0	GNB3	6822616	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.531000	0.85337	0.484000	0.47621	TCG		0.612	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		45	145	1	0	2.38e-10	2.49e-10	45	145				
RIMKLB	57494	broad.mit.edu	37	12	8906664	8906664	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:8906664G>C	ENST00000538135.1	+	5	1497	c.672G>C	c.(670-672)ggG>ggC	p.G224G	RIMKLB_ENST00000535829.1_Silent_p.G224G|RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000357529.3_Silent_p.G224G			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	224	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CAACAGATGGGAGAATGCAAA	0.383																																						uc001quu.2		NA																	0					0						c.(670-672)GGG>GGC		ribosomal modification protein rimK-like family							168.0	150.0	156.0					12																	8906664		1924	4135	6059	SO:0001819	synonymous_variant	57494				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr12:8906664G>C	AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.672G>C	12.37:g.8906664G>C						RIMKLB_uc009zgf.1_RNA|RIMKLB_uc001qux.2_Silent_p.G224G|RIMKLB_uc010sgl.1_Silent_p.G224G|RIMKLB_uc001quw.2_Silent_p.G224G	p.G224G	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN			5	923	+			224			ATP-grasp.		B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Silent	SNP	ENST00000538135.1	37	c.672G>C	CCDS41748.1																																																																																				0.383	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734		37	110	0	0	0	0	37	110				
A2M	2	broad.mit.edu	37	12	9227270	9227270	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:9227270G>C	ENST00000318602.7	-	29	3949	c.3642C>G	c.(3640-3642)ctC>ctG	p.L1214L		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1214					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TGAGATAAGCGAGGAGCACAT	0.587																																						uc001qvk.1		NA																	0				central_nervous_system(4)|skin(1)	5						c.(3640-3642)CTC>CTG		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						75.0	75.0	75.0					12																	9227270		2203	4300	6503	SO:0001819	synonymous_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9227270G>C	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3642C>G	12.37:g.9227270G>C						A2M_uc001qvj.1_Silent_p.L256L|A2M_uc009zgk.1_Silent_p.L1064L	p.L1214L	NM_000014	NP_000005	P01023	A2MG_HUMAN			29	3755	-			1214					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	c.3642C>G	CCDS44827.1																																																																																				0.587	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		12	38	0	0	0	0	12	38				
A2M	2	broad.mit.edu	37	12	9251338	9251338	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:9251338G>C	ENST00000318602.7	-	15	2023	c.1716C>G	c.(1714-1716)ttC>ttG	p.F572L		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	572					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GTGATGGGCTGAAGCTCAAAT	0.532																																						uc001qvk.1		NA																	0				central_nervous_system(4)|skin(1)	5						c.(1714-1716)TTC>TTG		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						46.0	46.0	46.0					12																	9251338		2203	4300	6503	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9251338G>C	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1716C>G	12.37:g.9251338G>C	ENSP00000323929:p.Phe572Leu					A2M_uc009zgk.1_Missense_Mutation_p.F422L	p.F572L	NM_000014	NP_000005	P01023	A2MG_HUMAN			15	1829	-			572					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.1716C>G	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.749407	0.49257	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.65178	-0.14	5.55	3.61	0.41365	Alpha-2-macroglobulin, N-terminal 2 (1);	0.000000	0.85682	D	0.000000	T	0.80303	0.4598	M	0.88570	2.965	0.35681	D	0.814069	D	0.89917	1.0	D	0.91635	0.999	D	0.86929	0.2072	10	0.87932	D	0	.	11.2149	0.48821	0.1691:0.0:0.8309:0.0	.	572	P01023	A2MG_HUMAN	L	572;587	ENSP00000323929:F572L	ENSP00000323929:F572L	F	-	3	2	A2M	9142605	0.955000	0.32602	0.873000	0.34254	0.122000	0.20287	1.565000	0.36386	1.390000	0.46547	-0.345000	0.07892	TTC		0.532	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		3	16	0	0	0	0	3	16				
KLRB1	3820	broad.mit.edu	37	12	9751250	9751250	+	Splice_Site	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:9751250C>G	ENST00000229402.3	-	4	306		c.e4-1			NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1						cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(6)|lung(4)	12						CCCGGTCTCTCTAAAGTAAAA	0.378																																						uc010sgt.1		NA																	0					0						c.e4-1		killer cell lectin-like receptor subfamily B,							57.0	59.0	58.0					12																	9751250		2203	4300	6503	SO:0001630	splice_region_variant	3820				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:9751250C>G	U11276	CCDS8601.1	12p13	2014-05-22			ENSG00000111796	ENSG00000111796		"""Killer cell lectin-like receptors"", ""CD molecules"", ""C-type lectin domain containing"""	6373	protein-coding gene	gene with protein product		602890		NKR		8077657	Standard	NM_002258		Approved	CD161, NKR-P1, NKR-P1A, hNKR-P1A, CLEC5B	uc010sgt.2	Q12918	OTTHUMG00000168581	ENST00000229402.3:c.260-1G>C	12.37:g.9751250C>G							p.E87_splice	NM_002258	NP_002249	Q12918	KLRB1_HUMAN			4	322	-								Q24K24	Splice_Site	SNP	ENST00000229402.3	37	c.260_splice	CCDS8601.1	.	.	.	.	.	.	.	.	.	.	c	6.668	0.491891	0.12702	.	.	ENSG00000111796	ENST00000229402	.	.	.	3.49	2.59	0.31030	.	.	.	.	.	.	.	.	.	.	.	0.27335	N	0.956659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.6192	0.22794	0.0:0.8689:0.0:0.1311	.	.	.	.	.	-1	.	.	.	-	.	.	KLRB1	9642517	0.227000	0.23707	0.058000	0.19502	0.030000	0.12068	2.347000	0.44036	1.016000	0.39470	0.650000	0.86243	.		0.378	KLRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400280.1	NM_002258	Intron	50	112	0	0	0	0	50	112				
STYK1	55359	broad.mit.edu	37	12	10783759	10783759	+	Silent	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:10783759T>C	ENST00000075503.3	-	5	856	c.336A>G	c.(334-336)caA>caG	p.Q112Q		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CTTCAGAGAGTTGCTCCCGCG	0.527										HNSCC(73;0.22)																												uc001qys.2		NA																	0				central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						c.(334-336)CAA>CAG		serine/threonine/tyrosine kinase 1							82.0	81.0	81.0					12																	10783759		2203	4300	6503	SO:0001819	synonymous_variant	55359					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr12:10783759T>C	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.336A>G	12.37:g.10783759T>C		HNSCC(73;0.22)					p.Q112Q	NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN			5	857	-			112					B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Silent	SNP	ENST00000075503.3	37	c.336A>G	CCDS8629.1																																																																																				0.527	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		31	96	0	0	0	0	31	96				
TAS2R8	50836	broad.mit.edu	37	12	10959018	10959018	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:10959018G>T	ENST00000240615.2	-	1	874	c.562C>A	c.(562-564)Ctg>Atg	p.L188M		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	188					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATTGCAAACAGGTTAAAGAGA	0.333																																						uc010shh.1		NA																	0				ovary(2)	2						c.(562-564)CTG>ATG		taste receptor, type 2, member 8							140.0	128.0	132.0					12																	10959018		2203	4300	6503	SO:0001583	missense	50836				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10959018G>T	AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.562C>A	12.37:g.10959018G>T	ENSP00000240615:p.Leu188Met						p.L188M	NM_023918	NP_076407	Q9NYW2	TA2R8_HUMAN			1	562	-			188			Helical; Name=5; (Potential).		Q4KN29|Q645Y2	Missense_Mutation	SNP	ENST00000240615.2	37	c.562C>A	CCDS8632.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929544	0.34096	.	.	ENSG00000121314	ENST00000240615	T	0.44083	0.93	5.05	-0.4	0.12411	GPCR, rhodopsin-like superfamily (1);	0.496807	0.15366	U	0.266127	T	0.51907	0.1702	L	0.52905	1.665	0.09310	N	1	D	0.54601	0.967	P	0.62014	0.897	T	0.47611	-0.9104	10	0.87932	D	0	.	10.1213	0.42623	0.5325:0.0:0.4675:0.0	.	188	Q9NYW2	TA2R8_HUMAN	M	188	ENSP00000240615:L188M	ENSP00000240615:L188M	L	-	1	2	TAS2R8	10850285	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.897000	0.04110	-0.273000	0.09246	-0.813000	0.03139	CTG		0.333	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399932.1			22	87	1	0	1.28e-07	1.33e-07	22	87				
TAS2R8	50836	broad.mit.edu	37	12	10959027	10959027	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:10959027G>C	ENST00000240615.2	-	1	865	c.553C>G	c.(553-555)Ctc>Gtc	p.L185V		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	185					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGGTTAAAGAGAGTCAAGGGT	0.323																																						uc010shh.1		NA																	0				ovary(2)	2						c.(553-555)CTC>GTC		taste receptor, type 2, member 8							149.0	134.0	139.0					12																	10959027		2203	4300	6503	SO:0001583	missense	50836				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10959027G>C	AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.553C>G	12.37:g.10959027G>C	ENSP00000240615:p.Leu185Val						p.L185V	NM_023918	NP_076407	Q9NYW2	TA2R8_HUMAN			1	553	-			185			Helical; Name=5; (Potential).		Q4KN29|Q645Y2	Missense_Mutation	SNP	ENST00000240615.2	37	c.553C>G	CCDS8632.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.299005	0.23650	.	.	ENSG00000121314	ENST00000240615	T	0.00882	5.58	5.05	-2.96	0.05547	GPCR, rhodopsin-like superfamily (1);	0.712444	0.08984	U	0.865402	T	0.00754	0.0025	L	0.38838	1.175	0.09310	N	1	B	0.33583	0.418	B	0.32393	0.145	T	0.44528	-0.9322	10	0.30078	T	0.28	.	0.6141	0.00766	0.3625:0.1224:0.2681:0.247	.	185	Q9NYW2	TA2R8_HUMAN	V	185	ENSP00000240615:L185V	ENSP00000240615:L185V	L	-	1	0	TAS2R8	10850294	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-1.278000	0.02809	-0.452000	0.07087	0.650000	0.86243	CTC		0.323	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399932.1			19	82	0	0	0	0	19	82				
TAS2R8	50836	broad.mit.edu	37	12	10959148	10959148	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:10959148G>C	ENST00000240615.2	-	1	744	c.432C>G	c.(430-432)gtC>gtG	p.V144V		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	144					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTATAAGGCTGACCAACAAGG	0.403																																						uc010shh.1		NA																	0				ovary(2)	2						c.(430-432)GTC>GTG		taste receptor, type 2, member 8							115.0	103.0	107.0					12																	10959148		2203	4300	6503	SO:0001819	synonymous_variant	50836				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10959148G>C	AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.432C>G	12.37:g.10959148G>C							p.V144V	NM_023918	NP_076407	Q9NYW2	TA2R8_HUMAN			1	432	-			144			Helical; Name=4; (Potential).		Q4KN29|Q645Y2	Silent	SNP	ENST00000240615.2	37	c.432C>G	CCDS8632.1																																																																																				0.403	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399932.1			21	87	0	0	0	0	21	87				
GUCY2C	2984	broad.mit.edu	37	12	14769618	14769618	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:14769618C>G	ENST00000261170.3	-	25	3055	c.2919G>C	c.(2917-2919)aaG>aaC	p.K973N	RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	973					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	ACTCAGTTCTCTTCAGGATGG	0.428																																						uc001rcd.2		NA																	0				ovary(4)|skin(2)	6						c.(2917-2919)AAG>AAC		guanylate cyclase 2C precursor							168.0	165.0	166.0					12																	14769618		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14769618C>G		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2919G>C	12.37:g.14769618C>G	ENSP00000261170:p.Lys973Asn						p.K973N	NM_004963	NP_004954	P25092	GUC2C_HUMAN			25	3056	-			973			Cytoplasmic (Potential).		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.2919G>C	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047019	0.55110	.	.	ENSG00000070019	ENST00000261170	T	0.81415	-1.49	5.09	3.15	0.36227	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.048433	0.85682	D	0.000000	T	0.75206	0.3818	L	0.31752	0.955	0.44595	D	0.997566	B	0.34399	0.452	P	0.45138	0.471	T	0.73830	-0.3859	10	0.51188	T	0.08	.	8.8609	0.35256	0.0:0.731:0.0:0.269	.	973	P25092	GUC2C_HUMAN	N	973	ENSP00000261170:K973N	ENSP00000261170:K973N	K	-	3	2	GUCY2C	14660885	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	1.881000	0.39638	1.184000	0.42957	0.650000	0.86243	AAG		0.428	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			67	208	0	0	0	0	67	208				
SLCO1B3	28234	broad.mit.edu	37	12	21054307	21054307	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:21054307T>G	ENST00000381545.3	+	15	1990	c.1771T>G	c.(1771-1773)Ttt>Gtt	p.F591V	LST3_ENST00000540229.1_Missense_Mutation_p.F591V|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.F591V|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.F591V|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	591					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TCCAATATATTTTGGGGCTCT	0.378																																						uc001rek.2		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(1771-1773)TTT>GTT		solute carrier organic anion transporter family,							168.0	163.0	165.0					12																	21054307		2203	4300	6503	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21054307T>G		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1771T>G	12.37:g.21054307T>G	ENSP00000370956:p.Phe591Val					SLCO1B3_uc001rel.2_Missense_Mutation_p.F591V|SLCO1B3_uc010sil.1_Missense_Mutation_p.F591V|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.F416V	p.F591V	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN			14	1897	+	Esophageal squamous(101;0.149)		591			Helical; Name=11; (Potential).		E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.1771T>G	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	21.3	4.122203	0.77436	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24	4.53	4.53	0.55603	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.099958	0.64402	D	0.000001	T	0.73289	0.3568	M	0.78285	2.405	0.80722	D	1	P;P;P	0.51147	0.917;0.942;0.942	P;P;P	0.62382	0.562;0.901;0.901	T	0.77159	-0.2690	10	0.66056	D	0.02	.	13.1196	0.59318	0.0:0.0:0.0:1.0	.	591;591;591	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	V	591;591;591;415;591	ENSP00000261196:F591V;ENSP00000370956:F591V;ENSP00000451758:F591V;ENSP00000443225:F415V;ENSP00000441269:F591V	ENSP00000441269:F591V	F	+	1	0	SLCO1B3;RP11-545J16.1	20945574	1.000000	0.71417	0.997000	0.53966	0.898000	0.52572	3.615000	0.54167	1.795000	0.52594	0.260000	0.18958	TTT		0.378	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		71	169	0	0	0	0	71	169				
CASC1	55259	broad.mit.edu	37	12	25267694	25267694	+	Missense_Mutation	SNP	G	G	C	rs199504997		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:25267694G>C	ENST00000320267.9	-	12	1570	c.1489C>G	c.(1489-1491)Cat>Gat	p.H497D	CASC1_ENST00000354189.5_Missense_Mutation_p.H561D|CASC1_ENST00000545133.1_Missense_Mutation_p.H438D|CASC1_ENST00000537577.1_Missense_Mutation_p.H385D|CASC1_ENST00000395987.3_Missense_Mutation_p.H503D|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395990.2_Missense_Mutation_p.H457D	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	497										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			ATGTTAATATGAGCATCTTGA	0.378																																						uc001rgl.2		NA																	0				ovary(2)	2						c.(1489-1491)CAT>GAT		cancer susceptibility candidate 1 isoform b							150.0	127.0	135.0					12																	25267694		2203	4300	6503	SO:0001583	missense	55259							g.chr12:25267694G>C	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.1489C>G	12.37:g.25267694G>C	ENSP00000313141:p.His497Asp					CASC1_uc001rgk.2_Missense_Mutation_p.H503D|CASC1_uc001rgm.3_Missense_Mutation_p.H561D|CASC1_uc001rgj.2_Missense_Mutation_p.H457D|CASC1_uc010sje.1_Missense_Mutation_p.H438D|CASC1_uc010sjf.1_Missense_Mutation_p.H385D|CASC1_uc010sjg.1_3'UTR	p.H497D	NM_001082973	NP_001076442	Q6TDU7	CASC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)		12	1571	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		497					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	c.1489C>G	CCDS41762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.27|19.27	3.794603|3.794603	0.70452|0.70452	.|.	.|.	ENSG00000118307|ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000545133;ENST00000389246|ENST00000556006	T;T;T;T;T|.	0.48201|.	0.82;1.42;1.42;0.83;0.84|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.054513|.	0.85682|.	D|.	0.000000|.	T|.	0.75339|.	0.3836|.	M|M	0.75264|0.75264	2.295|2.295	0.37951|0.37951	D|D	0.932661|0.932661	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999;1.0|.	D;D;D;D;D|.	0.91635|.	0.999;0.999;0.995;0.998;0.999|.	T|.	0.77905|.	-0.2413|.	10|.	0.41790|.	T|.	0.15|.	-23.9475|-23.9475	16.5054|16.5054	0.84271|0.84271	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	385;438;561;497;503|.	F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9|.	.;.;.;CASC1_HUMAN;.|.	D|X	561;503;497;457;385;438;307|333	ENSP00000346126:H561D;ENSP00000379310:H503D;ENSP00000313141:H497D;ENSP00000379313:H457D;ENSP00000437373:H438D|.	ENSP00000313141:H497D|.	H|S	-|-	1|2	0|0	CASC1|CASC1	25158961|25158961	1.000000|1.000000	0.71417|0.71417	0.461000|0.461000	0.27105|0.27105	0.997000|0.997000	0.91878|0.91878	4.981000|4.981000	0.63819|0.63819	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	CAT|TCA		0.378	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		41	112	0	0	0	0	41	112				
DDX11	1663	broad.mit.edu	37	12	31237969	31237969	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:31237969G>A	ENST00000407793.2	+	5	798	c.547G>A	c.(547-549)Gag>Aag	p.E183K	DDX11_ENST00000350437.4_Missense_Mutation_p.E183K|DDX11_ENST00000542838.1_Missense_Mutation_p.E183K|DDX11_ENST00000251758.5_Missense_Mutation_p.E183K|DDX11_ENST00000545668.1_Missense_Mutation_p.E183K|DDX11_ENST00000228264.6_Missense_Mutation_p.E157K	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	183	Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GACAGGCCCGGAGGCTGAGCG	0.597										Multiple Myeloma(12;0.14)																												uc001rjt.1		NA																	0				breast(3)	3						c.(547-549)GAG>AAG		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11							24.0	26.0	26.0					12																	31237969		2203	4298	6501	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31237969G>A	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.547G>A	12.37:g.31237969G>A	ENSP00000384703:p.Glu183Lys	Multiple Myeloma(12;0.14)				DDX11_uc010sjw.1_Missense_Mutation_p.E183K|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.E183K|DDX11_uc001rjs.1_Missense_Mutation_p.E183K|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.E183K|DDX11_uc001rjw.1_Missense_Mutation_p.E157K|DDX11_uc001rjx.1_5'Flank	p.E183K	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN			5	798	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		183			Glu-rich.|Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.547G>A	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.349362	0.01266	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000251758;ENST00000228264;ENST00000438391;ENST00000415475;ENST00000545668;ENST00000350437	T;T;T;T;T;T;T;T	0.81415	-1.49;-0.65;4.04;-1.39;0.29;0.89;-0.65;-1.18	3.7	1.79	0.24919	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.909549	0.09380	N	0.810090	T	0.57475	0.2056	N	0.08118	0	0.09310	N	1	B;B;B;B	0.30973	0.039;0.09;0.302;0.145	B;B;B;B	0.28011	0.023;0.02;0.085;0.033	T	0.45056	-0.9287	10	0.07644	T	0.81	.	7.8489	0.29442	0.2197:0.0:0.7803:0.0	.	183;183;183;183	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	K	183;183;183;157;154;157;183;183	ENSP00000443426:E183K;ENSP00000384703:E183K;ENSP00000251758:E183K;ENSP00000228264:E157K;ENSP00000407646:E154K;ENSP00000406457:E157K;ENSP00000440402:E183K;ENSP00000309965:E183K	ENSP00000228264:E157K	E	+	1	0	DDX11	31129236	0.941000	0.31946	0.001000	0.08648	0.042000	0.13812	6.058000	0.71126	0.761000	0.33130	0.505000	0.49811	GAG		0.597	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		7	18	0	0	0	0	7	18				
SYT10	341359	broad.mit.edu	37	12	33592455	33592455	+	Start_Codon_SNP	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:33592455C>T	ENST00000228567.3	-	1	299	c.3G>A	c.(1-3)atG>atA	p.M1I	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	1					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TGTGGAAACTCATCGTTTGGC	0.542																																						uc001rll.1		NA																	0				ovary(1)|skin(1)	2						c.(1-3)ATG>ATA		synaptotagmin X							257.0	231.0	240.0					12																	33592455		2203	4300	6503	SO:0001582	initiator_codon_variant	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33592455C>T	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.3G>A	12.37:g.33592455C>T	ENSP00000228567:p.Met1Ile					SYT10_uc009zju.1_5'UTR	p.M1I	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN			1	300	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		1			Vesicular (Potential).		Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.3G>A	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850578	0.71719	.	.	ENSG00000110975	ENST00000228567	T	0.46063	0.88	4.07	4.07	0.47477	.	0.000000	0.47093	U	0.000250	T	0.36496	0.0969	.	.	.	0.80722	D	1	B	0.29531	0.247	B	0.23574	0.047	T	0.42224	-0.9464	9	0.87932	D	0	.	15.7949	0.78401	0.0:1.0:0.0:0.0	.	1	Q6XYQ8	SYT10_HUMAN	I	1	ENSP00000228567:M1I	ENSP00000228567:M1I	M	-	3	0	SYT10	33483722	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	5.737000	0.68606	2.219000	0.72066	0.644000	0.83932	ATG		0.542	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992	Missense_Mutation	78	234	0	0	0	0	78	234				
KIF21A	55605	broad.mit.edu	37	12	39713804	39713804	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:39713804G>C	ENST00000361418.5	-	28	3698	c.3683C>G	c.(3682-3684)tCa>tGa	p.S1228*	KIF21A_ENST00000544797.2_Nonsense_Mutation_p.S1208*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.S1215*|KIF21A_ENST00000395670.3_Nonsense_Mutation_p.S1228*|KIF21A_ENST00000541463.2_Nonsense_Mutation_p.S1192*|KIF21A_ENST00000547745.1_5'UTR			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1228					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGATAGAGATGACTGCCTGGA	0.328																																						uc001rly.2		NA																	0				ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(3682-3684)TCA>TGA		kinesin family member 21A							71.0	64.0	67.0					12																	39713804		2203	4299	6502	SO:0001587	stop_gained	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39713804G>C	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3683C>G	12.37:g.39713804G>C	ENSP00000354878:p.Ser1228*					KIF21A_uc001rlv.2_Nonsense_Mutation_p.S233*|KIF21A_uc001rlw.2_Nonsense_Mutation_p.S545*|KIF21A_uc001rlx.2_Nonsense_Mutation_p.S1215*|KIF21A_uc001rlz.2_Nonsense_Mutation_p.S1192*|KIF21A_uc010skl.1_Nonsense_Mutation_p.S1208*|KIF21A_uc001rlu.2_5'UTR	p.S1228*	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			28	3829	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1228					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Nonsense_Mutation	SNP	ENST00000361418.5	37	c.3683C>G	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.384347|5.384347	0.95967|0.95967	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000552961|ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463	.|.	.|.	.|.	5.75|5.75	4.86|4.86	0.63082|0.63082	.|.	.|0.506918	.|0.16624	.|N	.|0.206358	T|.	0.52208|.	0.1720|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.61865|.	-0.6975|.	3|.	.|0.33141	.|T	.|0.24	.|.	9.5688|9.5688	0.39416|0.39416	0.0702:0.0:0.7866:0.1432|0.0702:0.0:0.7866:0.1432	.|.	.|.	.|.	.|.	D|X	576|1215;1228;1228;275;269;1208;1228;1192	.|.	.|ENSP00000344501:S1228X	H|S	-|-	1|2	0|0	KIF21A|KIF21A	38000071|38000071	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.904000|0.904000	0.53231|0.53231	4.188000|4.188000	0.58351|0.58351	1.414000|1.414000	0.47017|0.47017	-0.182000|-0.182000	0.12963|0.12963	CAT|TCA		0.328	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		11	53	0	0	0	0	11	53				
PDZRN4	29951	broad.mit.edu	37	12	41966788	41966788	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:41966788C>T	ENST00000402685.2	+	10	2215	c.2207C>T	c.(2206-2208)tCt>tTt	p.S736F	PDZRN4_ENST00000539469.2_Missense_Mutation_p.S478F|PDZRN4_ENST00000298919.7_Missense_Mutation_p.S476F	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	736							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AAGGACAGTTCTAGTGCTTAC	0.473																																						uc010skn.1		NA																	0				lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(1609-1611)TCT>TTT		PDZ domain containing RING finger 4 isoform 2							113.0	113.0	113.0					12																	41966788		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966788C>T	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2207C>T	12.37:g.41966788C>T	ENSP00000384197:p.Ser736Phe					PDZRN4_uc001rmq.3_Missense_Mutation_p.S478F|PDZRN4_uc009zjz.2_Missense_Mutation_p.S476F|PDZRN4_uc001rmr.2_Missense_Mutation_p.S363F	p.S537F	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			10	1678	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	736					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1610C>T	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188015	0.78789	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.78924	-1.22;3.3;3.29	4.99	4.99	0.66335	.	0.000000	0.64402	D	0.000002	D	0.89632	0.6771	M	0.85859	2.78	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.996	D	0.90952	0.4806	10	0.87932	D	0	-19.9124	19.1701	0.93574	0.0:1.0:0.0:0.0	.	736;476;478	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	F	736;478;476	ENSP00000384197:S736F;ENSP00000439990:S478F;ENSP00000298919:S476F	ENSP00000298919:S476F	S	+	2	0	PDZRN4	40253055	1.000000	0.71417	0.951000	0.38953	0.990000	0.78478	5.986000	0.70563	2.706000	0.92434	0.650000	0.86243	TCT		0.473	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		35	115	0	0	0	0	35	115				
TMEM117	84216	broad.mit.edu	37	12	44605135	44605135	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:44605135C>G	ENST00000266534.3	+	5	700	c.573C>G	c.(571-573)ttC>ttG	p.F191L	TMEM117_ENST00000536799.1_Missense_Mutation_p.F87L|TMEM117_ENST00000551577.1_Missense_Mutation_p.F191L	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	191						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CAAGAGCTTTCTGGAAGAAAG	0.393																																						uc001rod.2		NA																	0					0						c.(571-573)TTC>TTG		transmembrane protein 117							108.0	108.0	108.0					12																	44605135		2203	4300	6503	SO:0001583	missense	84216					endoplasmic reticulum|integral to membrane		g.chr12:44605135C>G	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.573C>G	12.37:g.44605135C>G	ENSP00000266534:p.Phe191Leu					TMEM117_uc001roe.2_Missense_Mutation_p.F87L|TMEM117_uc009zkc.2_Missense_Mutation_p.F191L	p.F191L	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN		GBM - Glioblastoma multiforme(48;0.124)	5	639	+	Lung SC(27;0.192)		191						Missense_Mutation	SNP	ENST00000266534.3	37	c.573C>G	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867540	0.32977	.	.	ENSG00000139173	ENST00000551577;ENST00000266534;ENST00000536799	T;T;T	0.52295	0.67;0.67;0.67	5.92	1.99	0.26369	.	0.092055	0.85682	N	0.000000	T	0.30008	0.0751	N	0.25890	0.77	0.38088	D	0.93686	B;B;B	0.12013	0.005;0.004;0.004	B;B;B	0.13407	0.003;0.009;0.006	T	0.10753	-1.0616	10	0.56958	D	0.05	-12.0011	5.4819	0.16729	0.1271:0.6066:0.0:0.2663	.	191;87;191	F8VS00;F5H3Q2;Q9H0C3	.;.;TM117_HUMAN	L	191;191;87	ENSP00000448595:F191L;ENSP00000266534:F191L;ENSP00000445243:F87L	ENSP00000266534:F191L	F	+	3	2	TMEM117	42891402	0.998000	0.40836	1.000000	0.80357	0.586000	0.36452	0.466000	0.22019	0.384000	0.24942	-0.136000	0.14681	TTC		0.393	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		3	124	0	0	0	0	3	124				
DDN	23109	broad.mit.edu	37	12	49391866	49391866	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:49391866C>T	ENST00000421952.2	-	2	814	c.793G>A	c.(793-795)Gac>Aac	p.D265N	RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	265						cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CGCCCTCCGTCTGTCCTGGCT	0.637																																						uc001rsv.1		NA																	0				large_intestine(1)	1						c.(793-795)GAC>AAC		dendrin							47.0	55.0	52.0					12																	49391866		2202	4296	6498	SO:0001583	missense	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49391866C>T	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.793G>A	12.37:g.49391866C>T	ENSP00000390590:p.Asp265Asn					uc001rsw.2_5'Flank	p.D265N	NM_015086	NP_055901	O94850	DEND_HUMAN			2	811	-			265						Missense_Mutation	SNP	ENST00000421952.2	37	c.793G>A	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783595	0.31593	.	.	ENSG00000181418	ENST00000421952	T	0.42131	0.98	3.89	3.89	0.44902	.	0.000000	0.46442	D	0.000288	T	0.21145	0.0509	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.08576	-1.0715	10	0.54805	T	0.06	-15.5728	7.569	0.27896	0.0:0.8874:0.0:0.1126	.	265	O94850	DEND_HUMAN	N	265	ENSP00000390590:D265N	ENSP00000390590:D265N	D	-	1	0	DDN	47678133	0.014000	0.17966	1.000000	0.80357	0.694000	0.40290	1.625000	0.37029	2.476000	0.83614	0.561000	0.74099	GAC		0.637	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			32	97	0	0	0	0	32	97				
KCNH3	23416	broad.mit.edu	37	12	49942877	49942877	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:49942877C>T	ENST00000257981.6	+	8	1649	c.1389C>T	c.(1387-1389)ctC>ctT	p.L463L		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	463					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TCAGCAGCCTCACCAGCGTGG	0.682																																						uc001ruh.1		NA																	0					0						c.(1387-1389)CTC>CTT		potassium voltage-gated channel, subfamily H							38.0	36.0	37.0					12																	49942877		2203	4300	6503	SO:0001819	synonymous_variant	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49942877C>T	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1389C>T	12.37:g.49942877C>T						KCNH3_uc010smj.1_Silent_p.L403L	p.L463L	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN			8	1649	+			463					Q9UQ06	Silent	SNP	ENST00000257981.6	37	c.1389C>T	CCDS8786.1																																																																																				0.682	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		19	43	0	0	0	0	19	43				
DIP2B	57609	broad.mit.edu	37	12	51116990	51116990	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:51116990G>C	ENST00000301180.5	+	27	3206	c.3172G>C	c.(3172-3174)Gag>Cag	p.E1058Q		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1058						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TGCAGGCATTGAGTTAATCGC	0.498																																						uc001rwv.2		NA																	0				ovary(4)|breast(1)|pancreas(1)	6						c.(3172-3174)GAG>CAG		DIP2 disco-interacting protein 2 homolog B							140.0	127.0	132.0					12																	51116990		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51116990G>C	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.3172G>C	12.37:g.51116990G>C	ENSP00000301180:p.Glu1058Gln					DIP2B_uc009zlt.2_Missense_Mutation_p.E488Q	p.E1058Q	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN			27	3328	+			1058					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.3172G>C	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.026980	0.93518	.	.	ENSG00000066084	ENST00000301180	T	0.55234	0.53	4.95	4.95	0.65309	AMP-dependent synthetase/ligase (1);	0.106539	0.64402	D	0.000006	T	0.52403	0.1732	L	0.39245	1.2	0.58432	D	0.999999	P	0.37548	0.599	B	0.41894	0.369	T	0.57505	-0.7800	10	0.72032	D	0.01	-5.2759	18.7686	0.91882	0.0:0.0:1.0:0.0	.	1058	Q9P265	DIP2B_HUMAN	Q	1058	ENSP00000301180:E1058Q	ENSP00000301180:E1058Q	E	+	1	0	DIP2B	49403257	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	9.657000	0.98554	2.758000	0.94735	0.563000	0.77884	GAG		0.498	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		48	171	0	0	0	0	48	171				
SLC4A8	9498	broad.mit.edu	37	12	51890879	51890879	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:51890879G>A	ENST00000453097.2	+	22	3269	c.3052G>A	c.(3052-3054)Gat>Aat	p.D1018N	SLC4A8_ENST00000358657.3_Missense_Mutation_p.D1045N	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GAAGTTGGATGATGCCAAAAA	0.453																																						uc001rys.1		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(3052-3054)GAT>AAT		solute carrier family 4, sodium bicarbonate							118.0	111.0	113.0					12																	51890879		2203	4300	6503	SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51890879G>A	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.3052G>A	12.37:g.51890879G>A	ENSP00000405812:p.Asp1018Asn					SLC4A8_uc001rym.2_Missense_Mutation_p.D965N|SLC4A8_uc001ryn.2_Missense_Mutation_p.D965N|SLC4A8_uc001ryo.2_Missense_Mutation_p.D965N|SLC4A8_uc010snj.1_Missense_Mutation_p.D1045N|SLC4A8_uc001ryr.2_Missense_Mutation_p.D1018N	p.D1018N	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	22	3230	+			1018			Cytoplasmic (Potential).|Potential.			Missense_Mutation	SNP	ENST00000453097.2	37	c.3052G>A	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	G	36	5.694473	0.96793	.	.	ENSG00000050438	ENST00000358657;ENST00000453097;ENST00000319957;ENST00000551071	T;T	0.80480	-1.38;-1.31	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.88753	0.6522	M	0.63428	1.95	0.80722	D	1	D;B;D	0.71674	0.998;0.098;0.996	D;B;D	0.81914	0.995;0.144;0.993	D	0.88893	0.3347	10	0.72032	D	0.01	.	18.8313	0.92141	0.0:0.0:1.0:0.0	.	1045;1018;1018	Q2Y0W8-2;Q2Y0W8;Q2Y0W8-3	.;S4A8_HUMAN;.	N	1045;1018;1018;965	ENSP00000351483:D1045N;ENSP00000405812:D1018N	ENSP00000315789:D1018N	D	+	1	0	SLC4A8	50177146	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	GAT		0.453	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		32	118	0	0	0	0	32	118				
HOXC4	3221	broad.mit.edu	37	12	54448756	54448756	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:54448756G>A	ENST00000430889.2	+	2	608	c.562G>A	c.(562-564)Gag>Aag	p.E188K	HOXC4_ENST00000609810.1_Missense_Mutation_p.E188K|HOXC4_ENST00000303406.4_Missense_Mutation_p.E188K	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	188					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						GAGAAGGATCGAGATCGCCCA	0.532																																						uc001seu.2		NA																	0				ovary(1)	1						c.(562-564)GAG>AAG		homeobox C4							50.0	46.0	48.0					12																	54448756		2203	4300	6503	SO:0001583	missense	3221					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54448756G>A		CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"""Homeoboxes / ANTP class : HOXL subclass"""	5126	protein-coding gene	gene with protein product		142974	"""homeo box C4"""	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.562G>A	12.37:g.54448756G>A	ENSP00000399808:p.Glu188Lys					HOXC4_uc001sex.2_Missense_Mutation_p.E188K	p.E188K	NM_014620	NP_055435	P09017	HXC4_HUMAN			4	1242	+			188			Homeobox.			Missense_Mutation	SNP	ENST00000430889.2	37	c.562G>A	CCDS8873.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030777	0.75504	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	D;D	0.96522	-4.04;-4.04	3.85	3.85	0.44370	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98046	0.9356	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98897	1.0775	10	0.87932	D	0	.	15.0798	0.72106	0.0:0.0:1.0:0.0	.	188	P09017	HXC4_HUMAN	K	188	ENSP00000305973:E188K;ENSP00000399808:E188K	ENSP00000305973:E188K	E	+	1	0	HOXC4	52735023	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.548000	0.98103	2.139000	0.66308	0.448000	0.29417	GAG		0.532	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1			19	41	0	0	0	0	19	41				
OR9K2	441639	broad.mit.edu	37	12	55524495	55524495	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:55524495C>G	ENST00000305377.5	+	1	1031	c.943C>G	c.(943-945)Ctg>Gtg	p.L315V		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						GATTTACTCTCTGAGGAACAA	0.343																																						uc010spe.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(943-945)CTG>GTG		olfactory receptor, family 9, subfamily K,							94.0	93.0	93.0					12																	55524495		2203	4300	6503	SO:0001583	missense	441639				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55524495C>G	BK004326	CCDS31814.1	12q13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.943C>G	12.37:g.55524495C>G	ENSP00000307598:p.Leu315Val						p.L315V	NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN			1	943	+			315					B9EH19|Q6IFD6	Missense_Mutation	SNP	ENST00000305377.5	37	c.943C>G	CCDS31814.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.537342	0.45176	.	.	ENSG00000170605	ENST00000305377	T	0.46451	0.87	4.98	4.09	0.47781	.	0.000000	0.40908	D	0.000990	T	0.67439	0.2893	M	0.92459	3.31	0.31028	N	0.717771	D	0.89917	1.0	D	0.87578	0.998	T	0.72004	-0.4421	10	0.87932	D	0	-14.7504	6.4972	0.22148	0.1489:0.6933:0.0:0.1578	.	315	Q8NGE7	OR9K2_HUMAN	V	315	ENSP00000307598:L315V	ENSP00000307598:L315V	L	+	1	2	OR9K2	53810762	0.075000	0.21258	0.996000	0.52242	0.948000	0.59901	0.462000	0.21956	1.477000	0.48234	0.650000	0.86243	CTG		0.343	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1			69	170	0	0	0	0	69	170				
OR6C3	254786	broad.mit.edu	37	12	55726127	55726127	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:55726127T>C	ENST00000379667.1	+	1	643	c.643T>C	c.(643-645)Tac>Cac	p.Y215H		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	215					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GATTTTATCTTACATGTACAT	0.363																																						uc010spj.1		NA																	0				skin(1)	1						c.(643-645)TAC>CAC		olfactory receptor, family 6, subfamily C,							204.0	199.0	201.0					12																	55726127		2202	4300	6502	SO:0001583	missense	254786				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55726127T>C	AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"""GPCR / Class A : Olfactory receptors"""	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.643T>C	12.37:g.55726127T>C	ENSP00000368989:p.Tyr215His						p.Y215H	NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN			1	643	+			215			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000379667.1	37	c.643T>C	CCDS31819.1	.	.	.	.	.	.	.	.	.	.	T	13.93	2.384677	0.42308	.	.	ENSG00000205329	ENST00000379667	T	0.00515	6.87	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000475	T	0.04137	0.0115	H	0.98487	4.245	0.45183	D	0.998195	D	0.89917	1.0	D	0.97110	1.0	T	0.01218	-1.1415	10	0.72032	D	0.01	.	15.0551	0.71908	0.0:0.0:0.0:1.0	.	215	Q9NZP0	OR6C3_HUMAN	H	215	ENSP00000368989:Y215H	ENSP00000368989:Y215H	Y	+	1	0	OR6C3	54012394	1.000000	0.71417	0.061000	0.19648	0.005000	0.04900	7.035000	0.76517	2.271000	0.75665	0.528000	0.53228	TAC		0.363	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1			76	193	0	0	0	0	76	193				
ERBB3	2065	broad.mit.edu	37	12	56495415	56495416	+	Missense_Mutation	DNP	GG	GG	AC	rs373454755		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:56495415_56495416GG>AC	ENST00000267101.3	+	28	4045_4046	c.3605_3606GG>AC	c.(3604-3606)cGG>cAC	p.R1202H	ERBB3_ENST00000450146.2_Missense_Mutation_p.R559H|ERBB3_ENST00000415288.2_Missense_Mutation_p.R1143H|PA2G4_ENST00000303305.6_5'Flank|PA2G4_ENST00000552766.1_5'Flank|ERBB3_ENST00000553131.1_Missense_Mutation_p.R443H|RP11-603J24.17_ENST00000548595.1_RNA|ERBB3_ENST00000549832.1_Missense_Mutation_p.R322H|RP11-603J24.9_ENST00000548861.1_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1202					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TACATGAACCGGAGGAGAAGGC	0.54																																						uc001sjh.2		NA																	0				lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(3604-3606)CGG>CAC		erbB-3 isoform 1 precursor																																				SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56495415_56495416GG>AC	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	Exception_encountered	12.37:g.56495415_56495416delinsAC	ENSP00000267101:p.Arg1202His					ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Missense_Mutation_p.R559H|ERBB3_uc010sqc.1_Missense_Mutation_p.R1143H|ERBB3_uc009zok.2_Missense_Mutation_p.R467H|ERBB3_uc001sjk.2_Missense_Mutation_p.R443H|ERBB3_uc001sjl.2_Missense_Mutation_p.R322H|PA2G4_uc001sjm.2_5'Flank|PA2G4_uc009zol.2_5'Flank|PA2G4_uc009zom.2_5'Flank	p.R1202H	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		28	3798_3799	+			1202			Cytoplasmic (Potential).		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	DNP	ENST00000267101.3	37	c.3605_3606GG>AC	CCDS31833.1																																																																																				0.540	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			38	88	0	0	0	0	38	88				
LRP1	4035	broad.mit.edu	37	12	57601825	57601825	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:57601825C>T	ENST00000243077.3	+	77	12330	c.11864C>T	c.(11863-11865)tCa>tTa	p.S3955L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3955					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATTCAGATTTCAGGGCTGAAG	0.602																																						uc001snd.2		NA																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(11863-11865)TCA>TTA		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						53.0	50.0	51.0					12																	57601825		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57601825C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11864C>T	12.37:g.57601825C>T	ENSP00000243077:p.Ser3955Leu						p.S3955L	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	77	12330	+			3955			Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.11864C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135699	0.77662	.	.	ENSG00000123384	ENST00000243077	D	0.90261	-2.64	4.6	4.6	0.57074	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.187598	0.35179	N	0.003382	D	0.84741	0.5539	L	0.33339	1.005	0.80722	D	1	B	0.26672	0.156	B	0.21917	0.037	T	0.80759	-0.1239	10	0.17369	T	0.5	.	16.7046	0.85368	0.0:1.0:0.0:0.0	.	3955	Q07954	LRP1_HUMAN	L	3955	ENSP00000243077:S3955L	ENSP00000243077:S3955L	S	+	2	0	LRP1	55888092	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.608000	0.61141	2.550000	0.86006	0.655000	0.94253	TCA		0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		13	27	0	0	0	0	13	27				
XPOT	11260	broad.mit.edu	37	12	64818849	64818849	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:64818849G>T	ENST00000332707.5	+	13	1868	c.1339G>T	c.(1339-1341)Gaa>Taa	p.E447*		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	447	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TATGGAAGTTGAAGTAGCAAT	0.383																																						uc001ssb.2		NA																	0				ovary(2)	2						c.(1339-1341)GAA>TAA		tRNA exportin							103.0	104.0	103.0					12																	64818849		2203	4300	6503	SO:0001587	stop_gained	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64818849G>T	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.1339G>T	12.37:g.64818849G>T	ENSP00000327821:p.Glu447*						p.E447*	NM_007235	NP_009166	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	13	1765	+			447			Necessary for tRNA-binding, cytoplasmic localization and nuclear export.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Nonsense_Mutation	SNP	ENST00000332707.5	37	c.1339G>T	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	G	44	11.093423	0.99515	.	.	ENSG00000184575	ENST00000332707	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9641	0.97260	0.0:0.0:1.0:0.0	.	.	.	.	X	447	.	.	E	+	1	0	XPOT	63105116	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.472000	0.97709	2.813000	0.96785	0.655000	0.94253	GAA		0.383	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		61	143	1	0	2.73e-28	2.94e-28	61	143				
ZDHHC17	23390	broad.mit.edu	37	12	77216299	77216299	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:77216299G>A	ENST00000426126.2	+	8	1534	c.885G>A	c.(883-885)ctG>ctA	p.L295L	ZDHHC17_ENST00000334822.5_Silent_p.L295L	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	295					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TTAGAAAGCTGAAAGCTGATA	0.398																																						uc001syk.1		NA																	0					0						c.(883-885)CTG>CTA		huntingtin interacting protein 14							53.0	47.0	49.0					12																	77216299		1832	4087	5919	SO:0001819	synonymous_variant	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77216299G>A	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.885G>A	12.37:g.77216299G>A						ZDHHC17_uc001syi.1_RNA|ZDHHC17_uc001syj.2_RNA	p.L295L	NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN			8	1048	+			295			Cytoplasmic (Potential).		B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Silent	SNP	ENST00000426126.2	37	c.885G>A	CCDS44946.1																																																																																				0.398	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		7	21	0	0	0	0	7	21				
PPP1R12A	4659	broad.mit.edu	37	12	80239130	80239130	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:80239130C>G	ENST00000450142.2	-	3	705	c.439G>C	c.(439-441)Gag>Cag	p.E147Q	PPP1R12A_ENST00000261207.5_Missense_Mutation_p.E147Q|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.E147Q|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.E60Q|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.E147Q	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	147					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GCCTCCTCCTCCGCAATATCT	0.373																																						uc001syz.2		NA																	0				ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(439-441)GAG>CAG		protein phosphatase 1, regulatory (inhibitor)							86.0	75.0	79.0					12																	80239130		1872	4120	5992	SO:0001583	missense	4659					contractile fiber	protein binding|signal transducer activity	g.chr12:80239130C>G	D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.439G>C	12.37:g.80239130C>G	ENSP00000389168:p.Glu147Gln					PPP1R12A_uc010suc.1_Missense_Mutation_p.E60Q|PPP1R12A_uc001sza.2_Missense_Mutation_p.E147Q|PPP1R12A_uc010sud.1_Missense_Mutation_p.E147Q|PPP1R12A_uc001szb.2_Missense_Mutation_p.E147Q|PPP1R12A_uc001szc.2_Missense_Mutation_p.E147Q	p.E147Q	NM_002480	NP_002471	O14974	MYPT1_HUMAN			3	706	-			147			ANK 4.		B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	ENST00000450142.2	37	c.439G>C	CCDS44947.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701964	0.88924	.	.	ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107;ENST00000547330;ENST00000550510	T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.22	5.22	0.72569	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.65080	0.2657	L	0.54908	1.71	0.58432	D	0.999999	D;B;P;D	0.57257	0.979;0.091;0.944;0.965	D;B;P;P	0.66847	0.947;0.22;0.582;0.886	T	0.66752	-0.5844	10	0.62326	D	0.03	.	18.7686	0.91882	0.0:1.0:0.0:0.0	.	147;147;147;147	F8W8Q6;O14974-2;O14974-3;O14974	.;.;.;MYPT1_HUMAN	Q	147;147;147;147;147;147;147;60;147;147;75	ENSP00000261207:E147Q;ENSP00000389168:E147Q;ENSP00000416769:E147Q;ENSP00000449514:E60Q;ENSP00000446855:E147Q;ENSP00000446816:E147Q;ENSP00000447338:E75Q	ENSP00000261207:E147Q	E	-	1	0	PPP1R12A	78763261	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.701000	0.68325	2.438000	0.82558	0.591000	0.81541	GAG		0.373	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480		13	35	0	0	0	0	13	35				
LRRIQ1	84125	broad.mit.edu	37	12	85450043	85450043	+	Missense_Mutation	SNP	G	G	C	rs376422827		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:85450043G>C	ENST00000393217.2	+	8	1533	c.1472G>C	c.(1471-1473)cGa>cCa	p.R491P		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	491										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GCAAAAAAACGATGTTCAGAA	0.289																																						uc001tac.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1471-1473)CGA>CCA		leucine-rich repeats and IQ motif containing 1							25.0	28.0	27.0					12																	85450043		2147	4253	6400	SO:0001583	missense	84125							g.chr12:85450043G>C	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1472G>C	12.37:g.85450043G>C	ENSP00000376910:p.Arg491Pro					LRRIQ1_uc001tab.1_Missense_Mutation_p.R491P|LRRIQ1_uc001taa.1_Missense_Mutation_p.R466P	p.R491P	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	1583	+			491					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.1472G>C	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	9.204	1.029195	0.19512	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.52754	0.65	4.38	0.731	0.18277	.	0.431903	0.18979	N	0.125928	T	0.24236	0.0587	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.04013	0.001;0.0	T	0.18650	-1.0330	10	0.62326	D	0.03	.	7.597	0.28054	0.6088:0.0:0.3912:0.0	.	491;466	Q96JM4;C9JI57	LRIQ1_HUMAN;.	P	491;466;491	ENSP00000376910:R491P	ENSP00000256007:R491P	R	+	2	0	LRRIQ1	83974174	0.001000	0.12720	0.001000	0.08648	0.026000	0.11368	0.429000	0.21412	0.192000	0.20272	-0.383000	0.06682	CGA		0.289	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		16	62	0	0	0	0	16	62				
USP44	84101	broad.mit.edu	37	12	95927813	95927813	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:95927813C>T	ENST00000258499.3	-	2	508	c.220G>A	c.(220-222)Gag>Aag	p.E74K	USP44_ENST00000393091.2_Missense_Mutation_p.E74K|USP44_ENST00000552440.1_Missense_Mutation_p.E74K|USP44_ENST00000537435.2_Missense_Mutation_p.E74K	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	74					mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						ACGTACATCTCATTCACCTCC	0.408											OREG0022039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001teg.2		NA																	0				lung(1)|breast(1)|central_nervous_system(1)	3						c.(220-222)GAG>AAG		ubiquitin thiolesterase 44							153.0	135.0	141.0					12																	95927813		2203	4300	6503	SO:0001583	missense	84101				anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr12:95927813C>T	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.220G>A	12.37:g.95927813C>T	ENSP00000258499:p.Glu74Lys		OREG0022039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1316	USP44_uc001teh.2_Missense_Mutation_p.E74K|USP44_uc009zte.2_Missense_Mutation_p.E71K	p.E74K	NM_001042403	NP_001035862	Q9H0E7	UBP44_HUMAN			2	364	-			74			UBP-type.		B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	c.220G>A	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683078	0.88542	.	.	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000552440;ENST00000537435;ENST00000551837;ENST00000549639	T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59	5.12	5.12	0.69794	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (3);	0.045406	0.85682	D	0.000000	T	0.58495	0.2126	M	0.82056	2.57	0.80722	D	1	D	0.63046	0.992	D	0.65573	0.936	T	0.62576	-0.6825	10	0.56958	D	0.05	.	18.9309	0.92564	0.0:1.0:0.0:0.0	.	74	Q9H0E7	UBP44_HUMAN	K	74	ENSP00000258499:E74K;ENSP00000376806:E74K;ENSP00000448670:E74K;ENSP00000442629:E74K;ENSP00000448601:E74K;ENSP00000449635:E74K	ENSP00000258499:E74K	E	-	1	0	USP44	94451944	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.741000	0.68638	2.536000	0.85505	0.561000	0.74099	GAG		0.408	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147		31	82	0	0	0	0	31	82				
AMDHD1	144193	broad.mit.edu	37	12	96348697	96348697	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:96348697G>A	ENST00000266736.2	+	3	359	c.253G>A	c.(253-255)Gat>Aat	p.D85N		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	85					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						AGGTTTGGTGGATGCACACAC	0.393																																						uc001tel.1		NA																	0				central_nervous_system(1)	1						c.(253-255)GAT>AAT		amidohydrolase domain containing 1							149.0	138.0	142.0					12																	96348697		2203	4300	6503	SO:0001583	missense	144193				histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding	g.chr12:96348697G>A	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.253G>A	12.37:g.96348697G>A	ENSP00000266736:p.Asp85Asn					AMDHD1_uc009zth.1_Intron	p.D85N	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN			3	359	+			85					A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	c.253G>A	CCDS9057.1	.	.	.	.	.	.	.	.	.	.	G	32	5.154523	0.94686	.	.	ENSG00000139344	ENST00000266736	T	0.63096	-0.02	5.91	5.91	0.95273	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.88463	0.6443	H	0.98314	4.2	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92182	0.5752	10	0.87932	D	0	-1.8067	20.2896	0.98541	0.0:0.0:1.0:0.0	.	85	Q96NU7	HUTI_HUMAN	N	85	ENSP00000266736:D85N	ENSP00000266736:D85N	D	+	1	0	AMDHD1	94872828	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	9.167000	0.94773	2.794000	0.96219	0.655000	0.94253	GAT		0.393	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435		28	78	0	0	0	0	28	78				
APAF1	317	broad.mit.edu	37	12	99077046	99077046	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:99077046C>A	ENST00000551964.1	+	15	2908	c.2172C>A	c.(2170-2172)ttC>ttA	p.F724L	APAF1_ENST00000339433.3_Missense_Mutation_p.F724L|APAF1_ENST00000357310.1_Missense_Mutation_p.F724L|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Missense_Mutation_p.F713L|APAF1_ENST00000549007.1_Missense_Mutation_p.F724L|APAF1_ENST00000550527.1_Missense_Mutation_p.F713L|APAF1_ENST00000547045.1_Missense_Mutation_p.F724L|APAF1_ENST00000333991.1_Intron	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	724					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GTGACTGCTTCCTCAAAGTAA	0.378																																						uc001tfz.2		NA																	0				ovary(2)|lung(1)	3						c.(2170-2172)TTC>TTA		apoptotic peptidase activating factor 1 isoform	Adenosine triphosphate(DB00171)						176.0	155.0	162.0					12																	99077046		2203	4300	6503	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99077046C>A	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.2172C>A	12.37:g.99077046C>A	ENSP00000448165:p.Phe724Leu					APAF1_uc001tfy.2_Missense_Mutation_p.F713L|APAF1_uc001tga.2_Missense_Mutation_p.F713L|APAF1_uc001tgb.2_Missense_Mutation_p.F724L|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Missense_Mutation_p.F133L	p.F724L	NM_181861	NP_863651	O14727	APAF_HUMAN			15	2749	+			724			WD 3.		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.2172C>A	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.497503	0.26861	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.67	2.84	0.33178	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.433100	0.30076	N	0.010476	T	0.25644	0.0624	N	0.04746	-0.17	0.80722	D	1	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.001	B;B;B;B;B	0.12156	0.004;0.007;0.002;0.001;0.001	T	0.05053	-1.0909	10	0.09590	T	0.72	-21.1094	1.4522	0.02377	0.1454:0.4459:0.1412:0.2675	.	724;724;713;724;713	C9JLV4;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	L	724;713;724;724;713;724;724	ENSP00000448165:F724L;ENSP00000353059:F713L;ENSP00000349862:F724L;ENSP00000341830:F724L;ENSP00000448449:F713L;ENSP00000449791:F724L;ENSP00000448161:F724L	ENSP00000341830:F724L	F	+	3	2	APAF1	97601177	0.991000	0.36638	0.914000	0.36105	0.286000	0.27126	0.167000	0.16602	0.327000	0.23409	-0.768000	0.03414	TTC		0.378	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		64	184	1	0	1.36e-18	1.45e-18	64	184				
UTP20	27340	broad.mit.edu	37	12	101767494	101767494	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:101767494G>C	ENST00000261637.4	+	54	7254	c.7080G>C	c.(7078-7080)gaG>gaC	p.E2360D		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2360					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TCAGCCTCGAGAAAAAAGATT	0.423																																						uc001tia.1		NA																	0				ovary(2)|breast(2)	4						c.(7078-7080)GAG>GAC		down-regulated in metastasis							84.0	71.0	75.0					12																	101767494		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101767494G>C	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.7080G>C	12.37:g.101767494G>C	ENSP00000261637:p.Glu2360Asp						p.E2360D	NM_014503	NP_055318	O75691	UTP20_HUMAN			54	7236	+			2360					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.7080G>C	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983707	0.35036	.	.	ENSG00000120800	ENST00000261637	T	0.66638	-0.22	5.96	4.13	0.48395	Armadillo-type fold (1);	0.252708	0.43747	D	0.000540	T	0.44159	0.1280	N	0.16307	0.4	0.33339	D	0.569613	B	0.09022	0.002	B	0.08055	0.003	T	0.46679	-0.9174	10	0.27082	T	0.32	-23.0381	5.1772	0.15141	0.2384:0.0:0.6083:0.1532	.	2360	O75691	UTP20_HUMAN	D	2360	ENSP00000261637:E2360D	ENSP00000261637:E2360D	E	+	3	2	UTP20	100291625	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.965000	0.40471	1.520000	0.48965	0.655000	0.94253	GAG		0.423	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		39	75	0	0	0	0	39	75				
MYBPC1	4604	broad.mit.edu	37	12	102036216	102036216	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:102036216G>A	ENST00000550270.1	+	9	610	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	MYBPC1_ENST00000361466.2_Missense_Mutation_p.E229K|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E190K|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E191K|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E178K|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E204K|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E204K|MYBPC1_ENST00000551300.1_Missense_Mutation_p.E105K|MYBPC1_ENST00000549145.1_Missense_Mutation_p.E217K|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E204K|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E229K|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E204K|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E192K|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E204K|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E185K			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	204					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GCAGCAGGAGGAAGAACCCCA	0.532																																						uc001tii.2		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(610-612)GAA>AAA		myosin binding protein C, slow type isoform 3							117.0	100.0	106.0					12																	102036216		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102036216G>A		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.610G>A	12.37:g.102036216G>A	ENSP00000449702:p.Glu204Lys					MYBPC1_uc001tif.1_Missense_Mutation_p.E217K|MYBPC1_uc001tig.2_Missense_Mutation_p.E229K|MYBPC1_uc010svq.1_Missense_Mutation_p.E191K|MYBPC1_uc001tih.2_Missense_Mutation_p.E229K|MYBPC1_uc001tij.2_Missense_Mutation_p.E204K|MYBPC1_uc010svr.1_Missense_Mutation_p.E204K|MYBPC1_uc010svs.1_Missense_Mutation_p.E204K|MYBPC1_uc010svt.1_Missense_Mutation_p.E192K|MYBPC1_uc010svu.1_Missense_Mutation_p.E185K|MYBPC1_uc001tik.2_Missense_Mutation_p.E178K	p.E204K	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			9	712	+			204					B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.610G>A	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941919	0.92526	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.59906	0.25;0.25;0.24;0.24;0.25;0.24;0.26;0.24;0.26;0.23;0.35;0.24;0.24;0.29;0.24	5.52	5.52	0.82312	.	0.000000	0.47852	D	0.000206	T	0.68860	0.3047	L	0.49513	1.565	0.54753	D	0.999984	P;D;B;P;P;P;D;P;B;D;D	0.54964	0.907;0.969;0.305;0.945;0.945;0.907;0.968;0.945;0.431;0.968;0.968	P;P;B;P;P;P;P;P;B;P;P	0.61477	0.65;0.725;0.191;0.725;0.665;0.65;0.858;0.777;0.352;0.858;0.889	T	0.62001	-0.6946	10	0.21540	T	0.41	.	19.4517	0.94871	0.0:0.0:1.0:0.0	.	185;192;204;204;191;178;204;204;229;229;217	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	K	178;204;204;204;191;190;229;217;204;229;204;185;192;229;105;204	ENSP00000448175:E178K;ENSP00000400908:E204K;ENSP00000388989:E204K;ENSP00000353822:E204K;ENSP00000376665:E191K;ENSP00000447362:E190K;ENSP00000354845:E229K;ENSP00000447660:E217K;ENSP00000447900:E204K;ENSP00000440034:E204K;ENSP00000446128:E185K;ENSP00000442847:E192K;ENSP00000354849:E229K;ENSP00000447116:E105K;ENSP00000449702:E204K	ENSP00000353822:E204K	E	+	1	0	MYBPC1	100560347	1.000000	0.71417	0.610000	0.28997	0.880000	0.50808	6.371000	0.73119	2.583000	0.87209	0.557000	0.71058	GAA		0.532	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			9	29	0	0	0	0	9	29				
CCDC53	51019	broad.mit.edu	37	12	102439861	102439861	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:102439861C>G	ENST00000240079.6	-	3	348	c.187G>C	c.(187-189)Gaa>Caa	p.E63Q	CCDC53_ENST00000539515.1_5'UTR|CCDC53_ENST00000545679.1_Missense_Mutation_p.E63Q	NM_016053.2	NP_057137.1	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	63						actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|WASH complex (GO:0071203)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						AGAGTTGTTTCAATTTGTTGG	0.284																																						uc010svw.1		NA																	0					0						c.(187-189)GAA>CAA		coiled-coil domain containing 53							51.0	47.0	48.0					12																	102439861		1795	4069	5864	SO:0001583	missense	51019					WASH complex	protein binding	g.chr12:102439861C>G	AF151874	CCDS44959.1, CCDS73512.1	12q23.3	2014-05-09			ENSG00000120860	ENSG00000120860			24256	protein-coding gene	gene with protein product						10810093, 20498093	Standard	XM_005268939		Approved	CGI-116	uc010svw.2	Q9Y3C0	OTTHUMG00000168187	ENST00000240079.6:c.187G>C	12.37:g.102439861C>G	ENSP00000240079:p.Glu63Gln					CCDC53_uc010svx.1_RNA|CCDC53_uc010svy.1_RNA|CCDC53_uc010svz.1_Missense_Mutation_p.E63Q	p.E63Q	NM_016053	NP_057137	Q9Y3C0	CCD53_HUMAN			3	346	-			63			Potential.		B2RC74|Q53FF0|Q6IAI4|Q96QK0	Missense_Mutation	SNP	ENST00000240079.6	37	c.187G>C	CCDS44959.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519512	0.85495	.	.	ENSG00000120860	ENST00000240079;ENST00000545679;ENST00000542923	.	.	.	5.37	5.37	0.77165	.	0.044103	0.85682	D	0.000000	D	0.83473	0.5262	M	0.87269	2.87	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;D	0.68943	0.935;0.961	D	0.86103	0.1557	9	0.72032	D	0.01	0.2619	16.3866	0.83507	0.0:1.0:0.0:0.0	.	63;63	F5GZ97;Q9Y3C0	.;CCD53_HUMAN	Q	63;63;13	.	ENSP00000240079:E63Q	E	-	1	0	CCDC53	100963991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.383000	0.66219	2.659000	0.90383	0.655000	0.94253	GAA		0.284	CCDC53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398685.1	NM_016053		3	13	0	0	0	0	3	13				
PARPBP	55010	broad.mit.edu	37	12	102572517	102572517	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:102572517C>T	ENST00000358383.5	+	8	1198	c.1153C>T	c.(1153-1155)Cat>Tat	p.H385Y	PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000541394.1_Missense_Mutation_p.H462Y|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000327680.2_Missense_Mutation_p.H304Y|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000392911.2_Missense_Mutation_p.H304Y			Q9NWS1	PARI_HUMAN	PARP1 binding protein	385					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.H304Y(1)|p.H385Y(1)		endometrium(1)|lung(8)|urinary_tract(2)	11						CACAATCCATCATCATGGAAC	0.323																																						uc001tjf.2		NA																	2	Substitution - Missense(2)		endometrium(2)		0						c.(1153-1155)CAT>TAT		hypothetical protein LOC55010							96.0	94.0	94.0					12																	102572517		2203	4300	6503	SO:0001583	missense	55010				response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102572517C>T	AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.1153C>T	12.37:g.102572517C>T	ENSP00000351153:p.His385Tyr					C12orf48_uc001tjg.2_Missense_Mutation_p.H304Y|C12orf48_uc010swa.1_Missense_Mutation_p.H462Y|C12orf48_uc001tjh.2_Missense_Mutation_p.H304Y|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Missense_Mutation_p.H100Y|C12orf48_uc001tjk.2_Intron|C12orf48_uc009zud.2_Intron	p.H385Y	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN			8	1265	+			385					B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	ENST00000358383.5	37	c.1153C>T	CCDS9090.2	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.190134	0.00302	.	.	ENSG00000185480	ENST00000327680;ENST00000541394;ENST00000358383;ENST00000392911	T;T;T;T	0.42513	0.97;0.98;0.98;0.97	5.47	0.709	0.18150	.	1.572370	0.02764	N	0.118895	T	0.21962	0.0529	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.11108	-1.0601	10	0.02654	T	1	4.3457	0.8895	0.01251	0.1696:0.1787:0.1919:0.4598	.	462;385	B4DZ31;Q9NWS1	.;PR1BP_HUMAN	Y	304;462;385;304	ENSP00000332915:H304Y;ENSP00000440850:H462Y;ENSP00000351153:H385Y;ENSP00000376643:H304Y	ENSP00000332915:H304Y	H	+	1	0	C12orf48	101096647	0.000000	0.05858	0.000000	0.03702	0.221000	0.24807	0.045000	0.14013	-0.026000	0.13895	0.650000	0.86243	CAT		0.323	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915		21	58	0	0	0	0	21	58				
ALDH1L2	160428	broad.mit.edu	37	12	105420410	105420410	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:105420410C>T	ENST00000258494.9	-	22	2769	c.2629G>A	c.(2629-2631)Gga>Aga	p.G877R	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	877	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						AAAACAGTTCCTGCTTCCAGT	0.413																																						uc001tlc.2		NA																	0				skin(1)	1						c.(2629-2631)GGA>AGA		aldehyde dehydrogenase 1 family, member L2							163.0	157.0	159.0					12																	105420410		2203	4300	6503	SO:0001583	missense	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105420410C>T	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.2629G>A	12.37:g.105420410C>T	ENSP00000258494:p.Gly877Arg					ALDH1L2_uc009zuo.2_Missense_Mutation_p.G332R|ALDH1L2_uc009zup.2_RNA	p.G877R	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN			22	2756	-			877			Aldehyde dehydrogenase.		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	c.2629G>A	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044332	0.93685	.	.	ENSG00000136010	ENST00000258494	D	0.87029	-2.2	5.17	5.17	0.71159	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.96602	0.8891	H	0.99042	4.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98545	1.0634	10	0.87932	D	0	.	18.6513	0.91431	0.0:1.0:0.0:0.0	.	877	Q3SY69	AL1L2_HUMAN	R	877	ENSP00000258494:G877R	ENSP00000258494:G877R	G	-	1	0	ALDH1L2	103944540	1.000000	0.71417	0.666000	0.29783	0.986000	0.74619	7.802000	0.85969	2.391000	0.81399	0.557000	0.71058	GGA		0.413	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		6	288	0	0	0	0	6	288				
PRDM4	11108	broad.mit.edu	37	12	108134781	108134781	+	Silent	SNP	G	G	A	rs145990889	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:108134781G>A	ENST00000228437.5	-	10	2325	c.1866C>T	c.(1864-1866)ttC>ttT	p.F622F	RP11-864J10.4_ENST00000546829.1_RNA|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	622					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						CCTTGCTACAGAAATCACACT	0.458													G|||	7	0.00139776	0.0	0.0	5008	,	,		19348	0.0		0.002	False		,,,				2504	0.0051					uc001tmp.2		NA																	0				breast(1)|skin(1)	2						c.(1864-1866)TTC>TTT		PR domain containing 4		G		0,4406		0,0,2203	135.0	132.0	133.0		1866	4.2	1.0	12	dbSNP_134	133	4,8596	4.3+/-15.6	0,4,4296	no	coding-synonymous	PRDM4	NM_012406.3		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		622/802	108134781	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108134781G>A	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.1866C>T	12.37:g.108134781G>A						PRDM4_uc010sww.1_Silent_p.F29F|PRDM4_uc001tmq.2_RNA	p.F622F	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN			10	2303	-			622			C2H2-type 2.		Q9UFA6	Silent	SNP	ENST00000228437.5	37	c.1866C>T	CCDS9115.1																																																																																				0.458	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		79	187	0	0	0	0	79	187				
TCTN1	79600	broad.mit.edu	37	12	111082789	111082789	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:111082789C>T	ENST00000551590.1	+	12	1505	c.1349C>T	c.(1348-1350)cCg>cTg	p.P450L	HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397655.3_Missense_Mutation_p.P436L|TCTN1_ENST00000397659.4_Missense_Mutation_p.P450L|TCTN1_ENST00000377654.3_Silent_p.P196P			Q2MV58	TECT1_HUMAN	tectonic family member 1	450					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						GGAGCTCTCCCGTGTCAGCTC	0.517																																						uc009zvs.2		NA																	0					0						c.(1348-1350)CCG>CTG		tectonic family member 1 isoform 2							99.0	98.0	98.0					12																	111082789		1879	4115	5994	SO:0001583	missense	79600				multicellular organismal development	extracellular region		g.chr12:111082789C>T	AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"""Tectonic proteins"""	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.1349C>T	12.37:g.111082789C>T	ENSP00000448735:p.Pro450Leu					TCTN1_uc001trp.3_Missense_Mutation_p.P436L|TCTN1_uc001trn.3_Missense_Mutation_p.P450L|TCTN1_uc001trk.3_RNA|HVCN1_uc001trq.1_Intron	p.P450L	NM_001082537	NP_001076006	Q2MV58	TECT1_HUMAN			12	1457	+			450					A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Missense_Mutation	SNP	ENST00000551590.1	37	c.1349C>T	CCDS41835.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494127	0.44352	.	.	ENSG00000204852	ENST00000397650;ENST00000551590;ENST00000397655;ENST00000397657;ENST00000397659;ENST00000397652;ENST00000547461;ENST00000552038	T;T;T	0.76316	-1.0;-1.01;-1.0	5.66	4.66	0.58398	.	2.433110	0.01508	N	0.017801	T	0.70753	0.3260	L	0.34521	1.04	0.27887	N	0.939476	P;P;P	0.49185	0.778;0.92;0.862	B;B;B	0.36922	0.124;0.236;0.187	T	0.63651	-0.6589	10	0.31617	T	0.26	-11.4346	13.7383	0.62831	0.2255:0.7745:0.0:0.0	.	450;436;450	Q2MV58;Q2MV58-3;Q2MV58-2	TECT1_HUMAN;.;.	L	341;450;436;272;450;394;11;54	ENSP00000448735:P450L;ENSP00000380775:P436L;ENSP00000380779:P450L	ENSP00000380771:P341L	P	+	2	0	TCTN1	109567172	0.009000	0.17119	0.436000	0.26797	0.087000	0.18053	2.369000	0.44231	2.832000	0.97577	0.655000	0.94253	CCG		0.517	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316016.2	NM_024549		46	147	0	0	0	0	46	147				
HVCN1	84329	broad.mit.edu	37	12	111099112	111099112	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:111099112C>T	ENST00000356742.5	-	3	916	c.163G>A	c.(163-165)Gag>Aag	p.E55K	HVCN1_ENST00000439744.2_Missense_Mutation_p.E35K|HVCN1_ENST00000548312.1_Missense_Mutation_p.E55K|HVCN1_ENST00000242607.8_Missense_Mutation_p.E55K			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	55	Poly-Glu.				cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GGTGGCTGctcctcctcctcc	0.607																																						uc001trs.1		NA																	0				skin(1)	1						c.(163-165)GAG>AAG		hydrogen voltage-gated channel 1							64.0	64.0	64.0					12																	111099112		2203	4300	6503	SO:0001583	missense	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111099112C>T	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.163G>A	12.37:g.111099112C>T	ENSP00000349181:p.Glu55Lys					HVCN1_uc001trq.1_Missense_Mutation_p.E55K|HVCN1_uc001trt.1_Missense_Mutation_p.E55K|HVCN1_uc010syd.1_Missense_Mutation_p.E35K	p.E55K	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN			4	328	-			55			Cytoplasmic (Potential).|Poly-Glu.		A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Missense_Mutation	SNP	ENST00000356742.5	37	c.163G>A	CCDS31900.1	.	.	.	.	.	.	.	.	.	.	c	9.107	1.005632	0.19199	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000439744;ENST00000546713	T;T;T;T	0.44083	0.93;0.93;0.93;0.95	4.93	4.0	0.46444	.	0.358324	0.28031	N	0.016868	T	0.33206	0.0855	L	0.46157	1.445	0.09310	N	1	B;B	0.22683	0.001;0.073	B;B	0.25405	0.004;0.06	T	0.12372	-1.0550	10	0.41790	T	0.15	-7.055	6.9002	0.24279	0.0:0.6777:0.1969:0.1254	.	55;55	Q96D96;Q96D96-3	HVCN1_HUMAN;.	K	55;55;55;35;55	ENSP00000449601:E55K;ENSP00000242607:E55K;ENSP00000349181:E55K;ENSP00000412052:E35K	ENSP00000242607:E55K	E	-	1	0	HVCN1	109583495	0.892000	0.30473	0.776000	0.31678	0.113000	0.19764	0.092000	0.15066	2.565000	0.86533	0.457000	0.33378	GAG		0.607	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		19	50	0	0	0	0	19	50				
SH2B3	10019	broad.mit.edu	37	12	111885521	111885521	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:111885521C>T	ENST00000341259.2	+	7	1655	c.1298C>T	c.(1297-1299)tCg>tTg	p.S433L	SH2B3_ENST00000538307.1_Missense_Mutation_p.S231L	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	433	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic hemopoiesis (GO:0035162)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)	phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10					Pazopanib(DB06589)	CACTTTCCCTCGGTCGTGGAC	0.667																																						uc001tse.2		NA																	0				ovary(1)	1						c.(1297-1299)TCG>TTG		SH2B adaptor protein 3							61.0	53.0	56.0					12																	111885521		2203	4300	6503	SO:0001583	missense	10019				blood coagulation	cytosol	signal transducer activity	g.chr12:111885521C>T	AF055581	CCDS9153.1	12q24.12	2014-09-17				ENSG00000111252		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	29605	protein-coding gene	gene with protein product	"""lymphocyte adaptor protein"""	605093				10799879	Standard	NM_005475		Approved	LNK, IDDM20	uc001tse.3	Q9UQQ2		ENST00000341259.2:c.1298C>T	12.37:g.111885521C>T	ENSP00000345492:p.Ser433Leu					SH2B3_uc010syf.1_Missense_Mutation_p.S433L|SH2B3_uc001tsf.2_Missense_Mutation_p.S434L|SH2B3_uc010syg.1_Missense_Mutation_p.S231L	p.S433L	NM_005475	NP_005466	Q9UQQ2	SH2B3_HUMAN			7	1655	+			433			SH2.		B9EGG5|O95184	Missense_Mutation	SNP	ENST00000341259.2	37	c.1298C>T	CCDS9153.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969599	0.92855	.	.	ENSG00000111252	ENST00000341259;ENST00000551001;ENST00000538307	T;T	0.65178	-0.14;-0.14	5.05	5.05	0.67936	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.85358	0.5678	H	0.97440	4.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.994;0.99;0.995	D	0.89586	0.3824	10	0.87932	D	0	-4.6869	12.6557	0.56786	0.0:0.913:0.0:0.087	.	231;297;433	F5GYM4;Q59H48;Q9UQQ2	.;.;SH2B3_HUMAN	L	433;243;231	ENSP00000345492:S433L;ENSP00000440597:S231L	ENSP00000345492:S433L	S	+	2	0	SH2B3	110369904	1.000000	0.71417	0.968000	0.41197	0.944000	0.59088	7.425000	0.80255	2.521000	0.84997	0.462000	0.41574	TCG		0.667	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404779.1	NM_005475		31	71	0	0	0	0	31	71				
ACAD10	80724	broad.mit.edu	37	12	112140045	112140045	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:112140045G>A	ENST00000313698.4	+	3	422	c.267G>A	c.(265-267)atG>atA	p.M89I	ACAD10_ENST00000549590.1_Missense_Mutation_p.M89I|ACAD10_ENST00000455480.2_Missense_Mutation_p.M89I|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_5'UTR	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	89						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGCCCTGGATGAGATTTATGA	0.403																																						uc001tsq.2		NA																	0				ovary(2)	2						c.(265-267)ATG>ATA		acyl-Coenzyme A dehydrogenase family, member 10							170.0	162.0	165.0					12																	112140045		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112140045G>A	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.267G>A	12.37:g.112140045G>A	ENSP00000325137:p.Met89Ile					ACAD10_uc009zvw.2_Missense_Mutation_p.M89I|ACAD10_uc001tso.3_Missense_Mutation_p.M89I|ACAD10_uc001tsp.2_Missense_Mutation_p.M89I|ACAD10_uc009zvx.2_Missense_Mutation_p.M89I	p.M89I	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN			3	467	+			89					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.267G>A	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299597	0.40694	.	.	ENSG00000111271	ENST00000514615;ENST00000509936;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000507135;ENST00000313698	T;T;T	0.05382	3.45;3.45;3.45	5.62	3.8	0.43715	Predicted HAD-superfamily phosphatase, subfamily IA/Epoxide hydrolase, N-terminal (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.239409	0.37053	N	0.002270	T	0.04543	0.0124	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B	0.15141	0.001;0.007;0.001;0.002;0.012	B;B;B;B;B	0.12156	0.004;0.005;0.007;0.006;0.004	T	0.41466	-0.9507	10	0.44086	T	0.13	.	11.1306	0.48345	0.1521:0.0:0.8479:0.0	.	89;89;89;89;89	G3XAJ0;F8VZG7;Q6JQN1;Q6JQN1-2;Q6JQN1-4	.;.;ACD10_HUMAN;.;.	I	89	ENSP00000446959:M89I;ENSP00000389813:M89I;ENSP00000325137:M89I	ENSP00000325137:M89I	M	+	3	0	ACAD10	110624428	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.998000	0.40796	0.728000	0.32382	0.563000	0.77884	ATG		0.403	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		70	162	0	0	0	0	70	162				
HECTD4	283450	broad.mit.edu	37	12	112711540	112711540	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:112711540G>A	ENST00000430131.2	-	10	1710	c.565C>T	c.(565-567)Cag>Tag	p.Q189*	HECTD4_ENST00000550722.1_Nonsense_Mutation_p.Q477*|HECTD4_ENST00000377560.5_Nonsense_Mutation_p.Q439*			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	189					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TTACACCACTGATCGATATAG	0.473																																						uc009zwc.2		NA																	0				ovary(1)|lung(1)	2						c.(565-567)CAG>TAG		chromosome 12 open reading frame 51							137.0	130.0	132.0					12																	112711540		2036	4204	6240	SO:0001587	stop_gained	283450							g.chr12:112711540G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.565C>T	12.37:g.112711540G>A	ENSP00000404379:p.Gln189*					C12orf51_uc010syk.1_Nonsense_Mutation_p.Q12*|C12orf51_uc001tts.2_Nonsense_Mutation_p.Q12*|C12orf51_uc001ttt.3_Nonsense_Mutation_p.Q12*	p.Q189*	NM_001109662	NP_001103132					4	583	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Nonsense_Mutation	SNP	ENST00000430131.2	37	c.565C>T		.	.	.	.	.	.	.	.	.	.	G	49	14.977598	0.99817	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	.	.	.	X	439;189;477	.	ENSP00000366783:Q439X	Q	-	1	0	C12orf51	111195923	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.434000	0.97515	2.894000	0.99253	0.591000	0.81541	CAG		0.473	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		51	136	0	0	0	0	51	136				
TBX5	6910	broad.mit.edu	37	12	114837439	114837439	+	Splice_Site	SNP	T	T	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:114837439T>G	ENST00000310346.4	-	4	909		c.e4-2		TBX5_ENST00000405440.2_Splice_Site|TBX5_ENST00000349716.5_Splice_Site|TBX5_ENST00000552726.1_Splice_Site|TBX5_ENST00000526441.1_Splice_Site	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5						apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		AACATCCGCCTAAGAGAGAGG	0.478																																					NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2		NA																	0				ovary(6)|pancreas(1)|skin(1)	8	GRCh37	CS054233	TBX5	S		c.e4-1		T-box 5 isoform 1							95.0	101.0	99.0					12																	114837439		2203	4300	6503	SO:0001630	splice_region_variant	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114837439T>G	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.243-2A>C	12.37:g.114837439T>G						TBX5_uc001tvp.2_Splice_Site_p.R81_splice|TBX5_uc001tvq.2_Splice_Site_p.R31_splice|TBX5_uc010syv.1_Splice_Site_p.R81_splice	p.R81_splice	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	4	738	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)							A6ND77|O15301|Q96TB0|Q9Y4I2	Splice_Site	SNP	ENST00000310346.4	37	c.243_splice	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.241679	0.79912	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000405440;ENST00000526441	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6984	0.69139	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TBX5	113321822	1.000000	0.71417	0.927000	0.36925	0.946000	0.59487	7.825000	0.86693	2.117000	0.64856	0.459000	0.35465	.		0.478	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717	Intron	45	125	0	0	0	0	45	125				
WSB2	55884	broad.mit.edu	37	12	118473077	118473077	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:118473077G>T	ENST00000315436.3	-	7	1027	c.886C>A	c.(886-888)Ctg>Atg	p.L296M	WSB2_ENST00000441406.2_Missense_Mutation_p.L313M|WSB2_ENST00000544233.1_Missense_Mutation_p.L86M|WSB2_ENST00000536738.1_5'Flank|WSB2_ENST00000535496.1_Missense_Mutation_p.L298M|WSB2_ENST00000542304.1_Missense_Mutation_p.L71M	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	296					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACAGATCTCAGTGAGCTAATG	0.537											OREG0022175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001twr.2		NA																	0				ovary(1)	1						c.(886-888)CTG>ATG		WD SOCS-box protein 2							135.0	117.0	123.0					12																	118473077		2203	4300	6503	SO:0001583	missense	55884				intracellular signal transduction			g.chr12:118473077G>T	AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"""WD repeat domain containing"""	19222	protein-coding gene	gene with protein product			"""WD repeat and SOCS box-containing 2"""			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.886C>A	12.37:g.118473077G>T	ENSP00000319474:p.Leu296Met		OREG0022175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1488	WSB2_uc010sza.1_Missense_Mutation_p.L71M|WSB2_uc010szb.1_Missense_Mutation_p.L86M|WSB2_uc009zws.1_Missense_Mutation_p.L296M	p.L296M	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN			7	984	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		296			WD 5.		B4DIE6|B4DPV6|Q9NRX9	Missense_Mutation	SNP	ENST00000315436.3	37	c.886C>A	CCDS9186.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254735	0.59212	.	.	ENSG00000176871	ENST00000315436;ENST00000542304;ENST00000441406;ENST00000544233;ENST00000535496	T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18	5.78	4.89	0.63831	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.066424	0.64402	D	0.000009	T	0.64114	0.2569	N	0.25825	0.765	0.53688	D	0.999977	D	0.76494	0.999	D	0.69824	0.966	T	0.68739	-0.5329	10	0.87932	D	0	-12.1941	14.4451	0.67345	0.071:0.0:0.929:0.0	.	296	Q9NYS7	WSB2_HUMAN	M	296;71;313;86;298	ENSP00000319474:L296M;ENSP00000445941:L71M;ENSP00000409131:L313M;ENSP00000444431:L86M;ENSP00000439450:L298M	ENSP00000319474:L296M	L	-	1	2	WSB2	116957460	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	2.812000	0.47994	1.449000	0.47699	0.563000	0.77884	CTG		0.537	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639		29	68	1	0	9.65e-13	1.02e-12	29	68				
PRKAB1	5564	broad.mit.edu	37	12	120111803	120111803	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:120111803G>C	ENST00000229328.5	+	3	850	c.358G>C	c.(358-360)Gaa>Caa	p.E120Q	PRKAB1_ENST00000540121.1_5'UTR|PRKAB1_ENST00000541640.1_Missense_Mutation_p.E120Q	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	120	Glycogen-binding domain. {ECO:0000250}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase activity (GO:0004672)			endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Metformin(DB00331)	GGATCTGCCGGAAGGAGAGCA	0.567																																						uc009zwu.2		NA																	0					0						c.(358-360)GAA>CAA		AMP-activated protein kinase beta 1	Adenosine monophosphate(DB00131)|Metformin(DB00331)						158.0	141.0	146.0					12																	120111803		2203	4300	6503	SO:0001583	missense	5564				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol		g.chr12:120111803G>C	BC001823	CCDS9191.1	12q24.1-q24.3	2008-05-14			ENSG00000111725	ENSG00000111725			9378	protein-coding gene	gene with protein product	"""AMPK beta 1"""	602740				8557660	Standard	NM_006253		Approved		uc001txg.3	Q9Y478	OTTHUMG00000168954	ENST00000229328.5:c.358G>C	12.37:g.120111803G>C	ENSP00000229328:p.Glu120Gln					PRKAB1_uc001txg.2_Missense_Mutation_p.E120Q	p.E120Q	NM_006253	NP_006244	Q9Y478	AAKB1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.166)	4	461	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		120					Q9UBV0|Q9UE20|Q9UEX2|Q9Y6V8	Missense_Mutation	SNP	ENST00000229328.5	37	c.358G>C	CCDS9191.1	.	.	.	.	.	.	.	.	.	.	G	34	5.300648	0.95601	.	.	ENSG00000111725	ENST00000229328;ENST00000541640;ENST00000539596	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.77205	0.4096	L	0.55743	1.74	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.74788	-0.3546	9	0.51188	T	0.08	-18.068	20.6634	0.99662	0.0:0.0:1.0:0.0	.	120	Q9Y478	AAKB1_HUMAN	Q	120;120;83	.	ENSP00000229328:E120Q	E	+	1	0	PRKAB1	118596186	1.000000	0.71417	0.971000	0.41717	0.971000	0.66376	9.476000	0.97823	2.894000	0.99253	0.655000	0.94253	GAA		0.567	PRKAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401731.2	NM_006253		27	139	0	0	0	0	27	139				
OASL	8638	broad.mit.edu	37	12	121469368	121469368	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:121469368G>C	ENST00000257570.5	-	3	804	c.534C>G	c.(532-534)atC>atG	p.I178M	OASL_ENST00000339275.5_Missense_Mutation_p.I178M	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	178					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGCAGGCCTTGATCAGGCTCA	0.557																																					Colon(192;517 2041 31392 31913 39966)	uc001tzj.1		NA																	0				skin(1)	1						c.(532-534)ATC>ATG		2'-5'-oligoadenylate synthetase-like isoform a							77.0	75.0	75.0					12																	121469368		2203	4300	6503	SO:0001583	missense	8638				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity	g.chr12:121469368G>C	AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.534C>G	12.37:g.121469368G>C	ENSP00000257570:p.Ile178Met					OASL_uc001tzk.1_Missense_Mutation_p.I178M	p.I178M	NM_003733	NP_003724	Q15646	OASL_HUMAN			3	540	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		178					B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	ENST00000257570.5	37	c.534C>G	CCDS9211.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.83|14.83	2.651613|2.651613	0.47362|0.47362	.|.	.|.	ENSG00000135114|ENSG00000135114	ENST00000257570;ENST00000339275|ENST00000543677	T;T|.	0.11169|.	2.8;2.8|.	5.52|5.52	-2.0|-2.0	0.07433|0.07433	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);|.	0.750578|.	0.11725|.	N|.	0.535466|.	T|.	0.48277|.	0.1491|.	M|M	0.86573|0.86573	2.825|2.825	0.09310|0.09310	N|N	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.79784|.	0.98;0.993|.	T|.	0.50415|.	-0.8831|.	10|.	0.59425|.	D|.	0.04|.	-16.9388|-16.9388	1.0502|1.0502	0.01578|0.01578	0.1641:0.1502:0.2404:0.4453|0.1641:0.1502:0.2404:0.4453	.|.	178;178|.	Q15646-2;Q15646|.	.;OASL_HUMAN|.	M|X	178|76	ENSP00000257570:I178M;ENSP00000341125:I178M|.	ENSP00000257570:I178M|.	I|S	-|-	3|2	3|0	OASL|OASL	119953751|119953751	0.004000|0.004000	0.15560|0.15560	0.009000|0.009000	0.14445|0.14445	0.076000|0.076000	0.17211|0.17211	-0.164000|-0.164000	0.09983|0.09983	-0.492000|-0.492000	0.06687|0.06687	-0.311000|-0.311000	0.09066|0.09066	ATC|TCA		0.557	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733		45	86	0	0	0	0	45	86				
DNAH10	196385	broad.mit.edu	37	12	124325980	124325980	+	Missense_Mutation	SNP	C	C	T	rs372793754		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:124325980C>T	ENST00000409039.3	+	29	4919	c.4894C>T	c.(4894-4896)Cgg>Tgg	p.R1632W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1632	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R224W(1)|p.R1632W(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAGATCTTGCGGGCTGAAGG	0.453																																						uc001uft.3		NA																	2	Substitution - Missense(2)		kidney(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(4894-4896)CGG>TGG		dynein, axonemal, heavy chain 10		C	TRP/ARG	0,4018		0,0,2009	189.0	192.0	191.0		4894	4.3	0.6	12		191	1,8331		0,1,4165	no	missense	DNAH10	NM_207437.3	101	0,1,6174	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	1632/4472	124325980	1,12349	2009	4166	6175	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124325980C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4894C>T	12.37:g.124325980C>T	ENSP00000386770:p.Arg1632Trp						p.R1632W	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	29	4919	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1632			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.4894C>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	11.40	1.628344	0.28978	0.0	1.2E-4	ENSG00000197653	ENST00000409039	T	0.62105	0.05	5.23	4.33	0.51752	Dynein heavy chain, domain-2 (1);	0.404099	0.20619	U	0.088806	T	0.74168	0.3681	M	0.67397	2.05	0.09310	N	0.999997	D	0.76494	0.999	D	0.66979	0.948	T	0.65479	-0.6158	10	0.54805	T	0.06	.	11.2171	0.48833	0.1186:0.5932:0.2882:0.0	.	1632	Q8IVF4	DYH10_HUMAN	W	1632	ENSP00000386770:R1632W	ENSP00000386770:R1632W	R	+	1	2	DNAH10	122891933	0.255000	0.24002	0.606000	0.28943	0.075000	0.17131	1.122000	0.31295	1.201000	0.43203	0.561000	0.74099	CGG		0.453	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			5	247	0	0	0	0	5	247				
DHX37	57647	broad.mit.edu	37	12	125449160	125449160	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:125449160G>A	ENST00000308736.2	-	15	1923	c.1825C>T	c.(1825-1827)Cca>Tca	p.P609S	DHX37_ENST00000544745.1_Missense_Mutation_p.P396S	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	609	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CCCTCCGGTGGAGGCTTAAAG	0.547																																						uc001ugy.2		NA																	0				skin(1)	1						c.(1825-1827)CCA>TCA		DEAH (Asp-Glu-Ala-His) box polypeptide 37							57.0	56.0	56.0					12																	125449160		2203	4300	6503	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125449160G>A	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.1825C>T	12.37:g.125449160G>A	ENSP00000311135:p.Pro609Ser						p.P609S	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	15	1924	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		609			Helicase C-terminal.		Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.1825C>T	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818773	0.71028	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.74947	-0.89;-0.89	5.17	5.17	0.71159	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.82802	0.5116	L	0.52759	1.655	0.80722	D	1	D	0.69078	0.997	D	0.70487	0.969	T	0.82464	-0.0444	10	0.44086	T	0.13	-30.6307	18.2623	0.90039	0.0:0.0:1.0:0.0	.	609	Q8IY37	DHX37_HUMAN	S	609;396	ENSP00000311135:P609S;ENSP00000439009:P396S	ENSP00000311135:P609S	P	-	1	0	DHX37	124015113	1.000000	0.71417	0.821000	0.32701	0.721000	0.41392	5.152000	0.64882	2.419000	0.82065	0.462000	0.41574	CCA		0.547	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		19	61	0	0	0	0	19	61				
TMEM132B	114795	broad.mit.edu	37	12	126136994	126136994	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr12:126136994C>T	ENST00000299308.3	+	8	1915	c.1907C>T	c.(1906-1908)tCg>tTg	p.S636L	TMEM132B_ENST00000535886.1_Missense_Mutation_p.S148L	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	636						integral component of membrane (GO:0016021)		p.S636L(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CAGGTCCTCTCGCCGTTGTCT	0.567																																						uc001uhe.1		NA																	1	Substitution - Missense(1)	p.S636L(1)	skin(1)	skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(1906-1908)TCG>TTG		transmembrane protein 132B							19.0	21.0	21.0					12																	126136994		2068	4212	6280	SO:0001583	missense	114795					integral to membrane		g.chr12:126136994C>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1907C>T	12.37:g.126136994C>T	ENSP00000299308:p.Ser636Leu					TMEM132B_uc001uhf.1_Missense_Mutation_p.S148L	p.S636L	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	8	1915	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		636			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.1907C>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.224969	0.39300	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.22336	1.96;1.96	5.34	5.34	0.76211	.	0.000000	0.56097	D	0.000040	T	0.49813	0.1579	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.53989	-0.8360	10	0.62326	D	0.03	.	19.0468	0.93022	0.0:1.0:0.0:0.0	.	636	Q14DG7	T132B_HUMAN	L	636;148	ENSP00000299308:S636L;ENSP00000440436:S148L	ENSP00000299308:S636L	S	+	2	0	TMEM132B	124702947	1.000000	0.71417	0.935000	0.37517	0.058000	0.15608	5.740000	0.68629	2.471000	0.83476	0.655000	0.94253	TCG		0.567	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		16	32	0	0	0	0	16	32				
LATS2	26524	broad.mit.edu	37	13	21565498	21565498	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:21565498C>T	ENST00000382592.4	-	3	793	c.388G>A	c.(388-390)Gag>Aag	p.E130K	LATS2_ENST00000542899.1_Missense_Mutation_p.E130K|LATS2_ENST00000472754.1_5'UTR	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		AGGGCGGCCTCGATGCTCCTG	0.577																																						uc009zzs.2		NA																	0				lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10						c.(388-390)GAG>AAG		LATS, large tumor suppressor, homolog 2							84.0	65.0	71.0					13																	21565498		2203	4300	6503	SO:0001583	missense	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21565498C>T	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.388G>A	13.37:g.21565498C>T	ENSP00000372035:p.Glu130Lys					LATS2_uc001unr.3_Missense_Mutation_p.E130K	p.E130K	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	3	753	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	130			UBA.			Missense_Mutation	SNP	ENST00000382592.4	37	c.388G>A	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	C	35	5.594184	0.96602	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.30981	1.51;1.51	5.12	5.12	0.69794	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);UBA-like (1);	0.000000	0.64402	D	0.000003	T	0.44159	0.1280	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.48958	-0.8988	10	0.87932	D	0	.	18.6032	0.91256	0.0:1.0:0.0:0.0	.	130	Q9NRM7	LATS2_HUMAN	K	130	ENSP00000372035:E130K;ENSP00000441817:E130K	ENSP00000372035:E130K	E	-	1	0	LATS2	20463498	1.000000	0.71417	0.855000	0.33649	0.938000	0.57974	7.440000	0.80464	2.400000	0.81607	0.555000	0.69702	GAG		0.577	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			15	65	0	0	0	0	15	65				
SKA3	221150	broad.mit.edu	37	13	21729931	21729931	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:21729931G>C	ENST00000314759.5	-	8	1263	c.1139C>G	c.(1138-1140)tCa>tGa	p.S380*	SKA3_ENST00000400018.3_Intron	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	380					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGCTAGGTTTGAGTTGTATTT	0.333																																						uc001unt.2		NA																	0					0						c.(1138-1140)TCA>TGA		SKA3							137.0	145.0	142.0					13																	21729931		2203	4300	6503	SO:0001587	stop_gained	221150				cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding	g.chr13:21729931G>C	AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 3"""	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.1139C>G	13.37:g.21729931G>C	ENSP00000319417:p.Ser380*					SKA3_uc001unv.2_Nonsense_Mutation_p.S298*|SKA3_uc001unu.2_Intron	p.S380*	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN			8	1233	-			380					A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Nonsense_Mutation	SNP	ENST00000314759.5	37	c.1139C>G	CCDS31946.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956694	0.92726	.	.	ENSG00000165480	ENST00000314759	.	.	.	5.08	4.23	0.50019	.	0.356016	0.29676	N	0.011482	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-3.3244	8.75	0.34609	0.0:0.1652:0.6635:0.1712	.	.	.	.	X	380	.	ENSP00000319417:S380X	S	-	2	0	SKA3	20627931	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	2.283000	0.43470	1.483000	0.48342	0.573000	0.79308	TCA		0.333	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1	NM_145061		29	118	0	0	0	0	29	118				
RNF17	56163	broad.mit.edu	37	13	25374667	25374667	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:25374667A>C	ENST00000255324.5	+	13	1805	c.1753A>C	c.(1753-1755)Aat>Cat	p.N585H	RNF17_ENST00000381921.1_Missense_Mutation_p.N585H|RNF17_ENST00000255325.6_Missense_Mutation_p.N585H	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	585					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TGTTCCACAGAATTCAGTAAG	0.373																																						uc001upr.2		NA																	0				ovary(1)|skin(1)	2						c.(1753-1755)AAT>CAT		ring finger protein 17							118.0	113.0	115.0					13																	25374667		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25374667A>C	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1753A>C	13.37:g.25374667A>C	ENSP00000255324:p.Asn585His					RNF17_uc010tdd.1_Missense_Mutation_p.N444H|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.N585H|RNF17_uc001ups.2_Missense_Mutation_p.N524H	p.N585H	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	13	1794	+		Lung SC(185;0.0225)|Breast(139;0.077)	585					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.1753A>C	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	A	17.11	3.304690	0.60305	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325	T;T;T	0.24908	1.83;1.83;1.83	4.44	4.44	0.53790	.	0.153050	0.41823	D	0.000806	T	0.34861	0.0912	M	0.62723	1.935	0.80722	D	1	D;D	0.57257	0.979;0.965	P;P	0.52710	0.707;0.643	T	0.09314	-1.0680	10	0.49607	T	0.09	.	8.3298	0.32180	0.9059:0.0:0.0941:0.0	.	585;585	B7Z7S1;Q9BXT8	.;RNF17_HUMAN	H	585;585;444;586	ENSP00000255324:N585H;ENSP00000371346:N585H;ENSP00000255325:N586H	ENSP00000255324:N585H	N	+	1	0	RNF17	24272667	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.633000	0.46519	1.999000	0.58509	0.379000	0.24179	AAT		0.373	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		4	84	0	0	0	0	4	84				
RNF17	56163	broad.mit.edu	37	13	25448363	25448363	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:25448363C>A	ENST00000255324.5	+	33	4611	c.4559C>A	c.(4558-4560)tCa>tAa	p.S1520*	RNF17_ENST00000381921.1_Nonsense_Mutation_p.S1478*|RNF17_ENST00000339524.3_Nonsense_Mutation_p.S530*	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1520	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GATTATGGATCAACTGCAAAG	0.294																																						uc001upr.2		NA																	0				ovary(1)|skin(1)	2						c.(4558-4560)TCA>TAA		ring finger protein 17							88.0	89.0	88.0					13																	25448363		2202	4300	6502	SO:0001587	stop_gained	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25448363C>A	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4559C>A	13.37:g.25448363C>A	ENSP00000255324:p.Ser1520*					RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Nonsense_Mutation_p.S1516*|RNF17_uc001ups.2_Nonsense_Mutation_p.S1459*|RNF17_uc010aac.2_Nonsense_Mutation_p.S712*|RNF17_uc010aad.2_Nonsense_Mutation_p.S530*	p.S1520*	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	33	4600	+		Lung SC(185;0.0225)|Breast(139;0.077)	1520			Tudor 4.		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Nonsense_Mutation	SNP	ENST00000255324.5	37	c.4559C>A	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	C	42	9.209827	0.99101	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000418120;ENST00000339524	.	.	.	5.27	4.42	0.53409	.	0.755278	0.11324	N	0.575794	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-4.2894	15.0226	0.71643	0.0:0.8569:0.1431:0.0	.	.	.	.	X	1520;1478;844;530	.	ENSP00000255324:S1520X	S	+	2	0	RNF17	24346363	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.045000	0.49838	1.192000	0.43071	0.484000	0.47621	TCA		0.294	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		18	86	1	0	3.53e-06	3.64e-06	18	86				
RNF6	6049	broad.mit.edu	37	13	26793630	26793630	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:26793630G>C	ENST00000381588.4	-	3	909	c.157C>G	c.(157-159)Cgg>Ggg	p.R53G	RNF6_ENST00000381570.3_Missense_Mutation_p.R53G|RNF6_ENST00000399762.2_De_novo_Start_InFrame|RNF6_ENST00000346166.3_Missense_Mutation_p.R53G|RNF6_ENST00000468480.1_5'UTR	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	53					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CTCATAAGCCGATAATCTTCA	0.383																																						uc001uqo.2		NA																	0				ovary(1)|skin(1)	2						c.(157-159)CGG>GGG		ring finger protein 6							125.0	117.0	120.0					13																	26793630		2203	4300	6503	SO:0001583	missense	6049				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:26793630G>C	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.157C>G	13.37:g.26793630G>C	ENSP00000371000:p.Arg53Gly					RNF6_uc001uqn.1_Missense_Mutation_p.R53G|RNF6_uc010aak.2_Missense_Mutation_p.R53G|RNF6_uc001uqp.2_Missense_Mutation_p.R53G|RNF6_uc001uqq.2_Missense_Mutation_p.R53G|RNF6_uc010tdk.1_Translation_Start_Site	p.R53G	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)	3	448	-	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	53					B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	37	c.157C>G	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608503	0.66558	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570	T;T;T	0.11063	2.81;2.81;2.81	5.08	3.15	0.36227	.	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.04796	-1.0926	10	0.87932	D	0	-16.675	10.9175	0.47146	0.0:0.0:0.4743:0.5257	.	53;53	Q9Y252;Q9BZP5	RNF6_HUMAN;.	G	53	ENSP00000342121:R53G;ENSP00000371000:R53G;ENSP00000370982:R53G	ENSP00000342121:R53G	R	-	1	2	RNF6	25691630	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.931000	0.48932	1.325000	0.45301	0.655000	0.94253	CGG		0.383	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977		4	141	0	0	0	0	4	141				
SLC46A3	283537	broad.mit.edu	37	13	29286950	29286950	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:29286950C>G	ENST00000266943.6	-	3	1296	c.927G>C	c.(925-927)ttG>ttC	p.L309F	SLC46A3_ENST00000380814.4_Missense_Mutation_p.L309F	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	309					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		GGAAACTAGTCAAAAAAGAGG	0.383																																						uc001usi.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(925-927)TTG>TTC		solute carrier family 46, member 3 isoform a							94.0	94.0	94.0					13																	29286950		2203	4300	6503	SO:0001583	missense	283537				transmembrane transport	integral to membrane		g.chr13:29286950C>G		CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.927G>C	13.37:g.29286950C>G	ENSP00000266943:p.Leu309Phe					SLC46A3_uc001usg.2_Missense_Mutation_p.L234F|SLC46A3_uc001usj.2_Missense_Mutation_p.L309F|SLC46A3_uc001ush.2_Missense_Mutation_p.L309F|SLC46A3_uc001usk.2_Missense_Mutation_p.L234F	p.L309F	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN		all cancers(112;0.159)	2	1897	-		Lung SC(185;0.0367)	309			Helical; (Potential).		Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Missense_Mutation	SNP	ENST00000266943.6	37	c.927G>C	CCDS9332.1	.	.	.	.	.	.	.	.	.	.	C	6.314	0.426070	0.11987	.	.	ENSG00000139508	ENST00000266943;ENST00000380814	T;T	0.59638	0.25;0.25	5.63	-8.02	0.01118	Major facilitator superfamily domain, general substrate transporter (1);	0.511302	0.19883	N	0.103917	T	0.36441	0.0967	L	0.49350	1.555	0.28194	N	0.927632	B;B;B	0.18968	0.032;0.026;0.032	B;B;B	0.22880	0.042;0.025;0.042	T	0.15263	-1.0443	10	0.41790	T	0.15	-4.2294	0.5907	0.00727	0.3234:0.2075:0.2532:0.2159	.	234;309;309	B5MEH0;Q7Z3Q1-2;Q7Z3Q1	.;.;S46A3_HUMAN	F	309	ENSP00000266943:L309F;ENSP00000370192:L309F	ENSP00000266943:L309F	L	-	3	2	SLC46A3	28184950	0.006000	0.16342	0.001000	0.08648	0.592000	0.36648	-0.962000	0.03841	-2.251000	0.00700	-0.972000	0.02603	TTG		0.383	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	NM_181785		30	81	0	0	0	0	30	81				
SLC46A3	283537	broad.mit.edu	37	13	29287679	29287679	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:29287679C>G	ENST00000266943.6	-	3	567	c.198G>C	c.(196-198)caG>caC	p.Q66H	SLC46A3_ENST00000380814.4_Missense_Mutation_p.Q66H	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	66					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		ACACTTTTTTCTGAACTTCCT	0.353																																						uc001usi.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(196-198)CAG>CAC		solute carrier family 46, member 3 isoform a							38.0	39.0	39.0					13																	29287679		2203	4300	6503	SO:0001583	missense	283537				transmembrane transport	integral to membrane		g.chr13:29287679C>G		CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.198G>C	13.37:g.29287679C>G	ENSP00000266943:p.Gln66His					SLC46A3_uc001usg.2_5'UTR|SLC46A3_uc001usj.2_Missense_Mutation_p.Q66H|SLC46A3_uc001ush.2_Missense_Mutation_p.Q66H|SLC46A3_uc001usk.2_5'UTR	p.Q66H	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN		all cancers(112;0.159)	2	1168	-		Lung SC(185;0.0367)	66			Extracellular (Potential).		Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Missense_Mutation	SNP	ENST00000266943.6	37	c.198G>C	CCDS9332.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318895	0.60524	.	.	ENSG00000139508	ENST00000266943;ENST00000380814	T;T	0.56103	0.48;0.48	5.91	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.71643	0.3364	M	0.79475	2.455	0.52099	D	0.999945	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.73075	-0.4097	10	0.54805	T	0.06	-15.4399	13.6606	0.62366	0.0:0.8858:0.0:0.1142	.	66;66	Q7Z3Q1-2;Q7Z3Q1	.;S46A3_HUMAN	H	66	ENSP00000266943:Q66H;ENSP00000370192:Q66H	ENSP00000266943:Q66H	Q	-	3	2	SLC46A3	28185679	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.197000	0.51028	2.793000	0.96121	0.655000	0.94253	CAG		0.353	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	NM_181785		14	35	0	0	0	0	14	35				
KATNAL1	84056	broad.mit.edu	37	13	30854258	30854258	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:30854258G>C	ENST00000380615.3	-	3	432	c.265C>G	c.(265-267)Caa>Gaa	p.Q89E	RNU6-64P_ENST00000517119.1_RNA|KATNAL1_ENST00000380617.3_Missense_Mutation_p.Q89E	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1											autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		GGTTCATCTTGACAGGACACA	0.393																																						uc001uss.2		NA																	0					0						c.(265-267)CAA>GAA		katanin p60 subunit A-like 1							75.0	79.0	77.0					13																	30854258		2203	4300	6503	SO:0001583	missense	84056					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	g.chr13:30854258G>C	AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"""ATPases / AAA-type"""	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.265C>G	13.37:g.30854258G>C	ENSP00000369989:p.Gln89Glu					KATNAL1_uc001ust.2_Missense_Mutation_p.Q89E	p.Q89E	NM_001014380	NP_001014402	Q9BW62	KATL1_HUMAN		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)	3	366	-		Lung SC(185;0.0257)	89						Missense_Mutation	SNP	ENST00000380615.3	37	c.265C>G	CCDS31956.1	.	.	.	.	.	.	.	.	.	.	G	9.924	1.212984	0.22289	.	.	ENSG00000102781	ENST00000380615;ENST00000380617;ENST00000414289;ENST00000441394	D;D	0.93712	-3.27;-3.27	5.5	5.5	0.81552	.	0.555040	0.21316	N	0.076550	D	0.84911	0.5577	N	0.14661	0.345	0.21386	N	0.9997	B	0.02656	0.0	B	0.06405	0.002	T	0.63097	-0.6713	10	0.02654	T	1	2.2064	14.9485	0.71050	0.0:0.1426:0.8574:0.0	.	89	Q9BW62	KATL1_HUMAN	E	89	ENSP00000369989:Q89E;ENSP00000369991:Q89E	ENSP00000369989:Q89E	Q	-	1	0	KATNAL1	29752258	1.000000	0.71417	0.973000	0.42090	0.983000	0.72400	3.386000	0.52492	2.591000	0.87537	0.462000	0.41574	CAA		0.393	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044346.2	NM_032116		18	51	0	0	0	0	18	51				
FRY	10129	broad.mit.edu	37	13	32776558	32776558	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:32776558C>G	ENST00000380250.3	+	31	4408	c.3912C>G	c.(3910-3912)ctC>ctG	p.L1304L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1304						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GAAGTATTCTCTATGGAACAC	0.478																																						uc001utx.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(3910-3912)CTC>CTG		furry homolog							90.0	90.0	90.0					13																	32776558		1939	4138	6077	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32776558C>G	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.3912C>G	13.37:g.32776558C>G						FRY_uc010tdw.1_RNA	p.L1304L	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	31	4408	+		Lung SC(185;0.0271)	1304					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.3912C>G	CCDS41875.1																																																																																				0.478	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		10	126	0	0	0	0	10	126				
RFC3	5983	broad.mit.edu	37	13	34395395	34395395	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:34395395C>G	ENST00000380071.3	+	2	344	c.214C>G	c.(214-216)Cag>Gag	p.Q72E	RFC3_ENST00000434425.1_Missense_Mutation_p.Q72E	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	72					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to organophosphorus (GO:0046683)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	DNA clamp loader activity (GO:0003689)			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		AATTGAACATCAGACCATCAC	0.418																																						uc001uuz.2		NA																	0					0						c.(214-216)CAG>GAG		replication factor C 3 isoform 1							167.0	152.0	157.0					13																	34395395		2203	4300	6503	SO:0001583	missense	5983				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr13:34395395C>G		CCDS9352.1, CCDS45025.1	13q13.2	2010-04-21	2002-08-29		ENSG00000133119	ENSG00000133119		"""ATPases / AAA-type"""	9971	protein-coding gene	gene with protein product	"""RFC, 38 kD subunit"", ""A1 38 kDa subunit"""	600405	"""replication factor C (activator 1) 3 (38kD)"""			7774928	Standard	NM_002915		Approved	RFC38, MGC5276	uc001uuz.3	P40938	OTTHUMG00000016715	ENST00000380071.3:c.214C>G	13.37:g.34395395C>G	ENSP00000369411:p.Gln72Glu					RFC3_uc001uva.2_Missense_Mutation_p.Q72E|RFC3_uc010ted.1_Missense_Mutation_p.Q72E	p.Q72E	NM_002915	NP_002906	P40938	RFC3_HUMAN		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)	2	324	+		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)	72					C9JU95|O15252|Q5W0E8	Missense_Mutation	SNP	ENST00000380071.3	37	c.214C>G	CCDS9352.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913850	0.52439	.	.	ENSG00000133119	ENST00000380071;ENST00000434425	T;T	0.39787	1.06;1.06	5.3	4.45	0.53987	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.102619	0.64402	N	0.000002	T	0.38401	0.1039	L	0.43152	1.355	0.80722	D	1	P;P;P	0.36183	0.536;0.542;0.542	B;B;B	0.36030	0.173;0.216;0.216	T	0.35226	-0.9797	10	0.72032	D	0.01	-8.0021	14.8325	0.70159	0.0:0.8432:0.1568:0.0	.	72;72;72	B4DKE6;C9JU95;P40938	.;.;RFC3_HUMAN	E	72	ENSP00000369411:Q72E;ENSP00000401001:Q72E	ENSP00000369411:Q72E	Q	+	1	0	RFC3	33293395	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.744000	0.68664	1.224000	0.43551	-0.219000	0.12488	CAG		0.418	RFC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044450.2	NM_002915		4	127	0	0	0	0	4	127				
POSTN	10631	broad.mit.edu	37	13	38153456	38153456	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:38153456C>T	ENST00000379747.4	-	13	1818	c.1701G>A	c.(1699-1701)ctG>ctA	p.L567L	POSTN_ENST00000379742.4_Silent_p.L567L|POSTN_ENST00000379749.4_Silent_p.L567L|POSTN_ENST00000379743.4_Silent_p.L567L|POSTN_ENST00000541179.1_Silent_p.L567L|POSTN_ENST00000541481.1_Silent_p.L567L	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	567	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTCCTGGTGTCAGGTGATAAA	0.323																																						uc001uwo.3		NA																	0				ovary(2)	2						c.(1699-1701)CTG>CTA		periostin, osteoblast specific factor isoform 1							70.0	73.0	72.0					13																	38153456		2203	4298	6501	SO:0001819	synonymous_variant	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38153456C>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1701G>A	13.37:g.38153456C>T						POSTN_uc010tet.1_Silent_p.L95L|POSTN_uc001uwp.3_Silent_p.L567L|POSTN_uc001uwr.2_Silent_p.L567L|POSTN_uc001uwq.2_Silent_p.L567L|POSTN_uc010teu.1_Silent_p.L567L|POSTN_uc010tev.1_Silent_p.L567L|POSTN_uc010tew.1_Silent_p.L567L|POSTN_uc010tex.1_Silent_p.L482L	p.L567L	NM_006475	NP_006466	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	13	1819	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	567			FAS1 4.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Silent	SNP	ENST00000379747.4	37	c.1701G>A	CCDS9364.1																																																																																				0.323	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		8	127	0	0	0	0	8	127				
LHFP	10186	broad.mit.edu	37	13	40174981	40174981	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:40174981G>C	ENST00000379589.3	-	2	835	c.373C>G	c.(373-375)Cag>Gag	p.Q125E	LHFP_ENST00000495922.1_5'Flank	NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	125						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		CCAAGAAACTGAATTCCTCCA	0.483			T	HMGA2	lipoma																																	uc001uxf.2		NA		Dom	yes		13	13q12	10186	T	lipoma HMGIC fusion partner			M	HMGA2		lipoma	HMGA2/LHFP(2)	0				soft_tissue(2)|lung(1)|breast(1)	4						c.(373-375)CAG>GAG		lipoma HMGIC fusion partner precursor							92.0	99.0	97.0					13																	40174981		2203	4300	6503	SO:0001583	missense	10186					integral to membrane	DNA binding	g.chr13:40174981G>C	AF098807	CCDS9369.1	13q12	2008-07-18			ENSG00000183722	ENSG00000183722			6586	protein-coding gene	gene with protein product		606710				10329012	Standard	NM_005780		Approved	MGC22429	uc001uxf.3	Q9Y693	OTTHUMG00000016767	ENST00000379589.3:c.373C>G	13.37:g.40174981G>C	ENSP00000368908:p.Gln125Glu						p.Q125E	NM_005780	NP_005771	Q9Y693	LHFP_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)	2	884	-		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)	125			Helical; (Potential).		B2R7M2|Q53FC0|Q96SH5	Missense_Mutation	SNP	ENST00000379589.3	37	c.373C>G	CCDS9369.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857665	0.51376	.	.	ENSG00000183722	ENST00000379589	T	0.77229	-1.08	5.43	5.43	0.79202	.	0.092377	0.47852	D	0.000209	D	0.84848	0.5563	M	0.87971	2.92	0.54753	D	0.999989	P	0.49783	0.928	P	0.47864	0.559	D	0.86994	0.2112	9	.	.	.	.	18.2305	0.89934	0.0:0.0:1.0:0.0	.	125	Q9Y693	LHFP_HUMAN	E	125	ENSP00000368908:Q125E	.	Q	-	1	0	LHFP	39072981	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	9.373000	0.97168	2.554000	0.86153	0.650000	0.86243	CAG		0.483	LHFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044619.1	NM_005780		30	76	0	0	0	0	30	76				
VWA8	23078	broad.mit.edu	37	13	42393495	42393495	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:42393495G>A	ENST00000379310.3	-	15	1796	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	VWA8_ENST00000281496.6_Silent_p.F576F	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	576						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										CAATGATTCTGAAGGAGGGAT	0.368																																						uc001uyj.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6						c.(1726-1728)TTC>TTT		hypothetical protein LOC23078 isoform a							62.0	66.0	64.0					13																	42393495		2203	4300	6503	SO:0001819	synonymous_variant	23078					extracellular region	ATP binding|ATPase activity	g.chr13:42393495G>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.1728C>T	13.37:g.42393495G>A						KIAA0564_uc001uyk.2_Silent_p.F576F	p.F576F	NM_015058	NP_055873	A3KMH1	K0564_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	15	1798	-		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	576					O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	ENST00000379310.3	37	c.1728C>T	CCDS41881.1																																																																																				0.368	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		22	66	0	0	0	0	22	66				
AKAP11	11215	broad.mit.edu	37	13	42872840	42872840	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:42872840G>A	ENST00000025301.2	+	7	698	c.523G>A	c.(523-525)Gat>Aat	p.D175N		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	175					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AGATGATGATGATACTAACCA	0.403																																						uc001uys.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(523-525)GAT>AAT		A-kinase anchor protein 11							184.0	152.0	162.0					13																	42872840		2203	4299	6502	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42872840G>A	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.523G>A	13.37:g.42872840G>A	ENSP00000025301:p.Asp175Asn						p.D175N	NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	7	698	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	175					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.523G>A	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	G	36	5.675412	0.96764	.	.	ENSG00000023516	ENST00000025301	T	0.33216	1.42	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.59169	0.2174	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58064	-0.7702	10	0.87932	D	0	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	175	Q9UKA4	AKA11_HUMAN	N	175	ENSP00000025301:D175N	ENSP00000025301:D175N	D	+	1	0	AKAP11	41770840	1.000000	0.71417	0.993000	0.49108	0.967000	0.64934	9.408000	0.97327	2.885000	0.99019	0.655000	0.94253	GAT		0.403	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		37	106	0	0	0	0	37	106				
TSC22D1	8848	broad.mit.edu	37	13	45008797	45008797	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:45008797G>T	ENST00000458659.2	-	3	3677	c.3187C>A	c.(3187-3189)Cag>Aag	p.Q1063K	TSC22D1_ENST00000261489.2_Missense_Mutation_p.Q134K|RP11-71C5.2_ENST00000426579.2_RNA|TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	1063					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		GATGCTGGCTGGGCGGGGGGC	0.652																																						uc001uzn.3		NA																	0					0						c.(3187-3189)CAG>AAG		TSC22 domain family, member 1 isoform 1							19.0	23.0	22.0					13																	45008797		2190	4291	6481	SO:0001583	missense	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45008797G>T	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.3187C>A	13.37:g.45008797G>T	ENSP00000397435:p.Gln1063Lys					TSC22D1_uc001uzo.1_Intron|TSC22D1_uc001uzm.3_Missense_Mutation_p.Q134K	p.Q1063K	NM_183422	NP_904358	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	3	3678	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	1063					B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	c.3187C>A	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927323	0.52759	.	.	ENSG00000102804	ENST00000458659;ENST00000261489	T	0.36878	1.23	5.77	5.77	0.91146	.	0.000000	0.47093	D	0.000241	T	0.50154	0.1599	L	0.57536	1.79	0.80722	D	1	D;P	0.60575	0.988;0.6	P;B	0.54544	0.755;0.298	T	0.28839	-1.0031	10	0.28530	T	0.3	.	18.5764	0.91157	0.0:0.0:1.0:0.0	.	1063;134	Q15714;Q15714-2	T22D1_HUMAN;.	K	1063;134	ENSP00000397435:Q1063K	ENSP00000261489:Q134K	Q	-	1	0	TSC22D1	43906797	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	5.387000	0.66243	2.724000	0.93272	0.561000	0.74099	CAG		0.652	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		6	33	1	0	0.00307968	0.003127	6	33				
TSC22D1	8848	broad.mit.edu	37	13	45008999	45008999	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:45008999C>T	ENST00000458659.2	-	3	3475	c.2985G>A	c.(2983-2985)ttG>ttA	p.L995L	TSC22D1_ENST00000261489.2_Silent_p.L66L|RP11-71C5.2_ENST00000426579.2_RNA|TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	995					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CCGCATACATCAAATGGCTTT	0.378																																						uc001uzn.3		NA																	0					0						c.(2983-2985)TTG>TTA		TSC22 domain family, member 1 isoform 1							104.0	113.0	110.0					13																	45008999		2203	4300	6503	SO:0001819	synonymous_variant	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45008999C>T	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.2985G>A	13.37:g.45008999C>T						TSC22D1_uc001uzo.1_Intron|TSC22D1_uc001uzm.3_Silent_p.L66L	p.L995L	NM_183422	NP_904358	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	3	3476	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	995					B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Silent	SNP	ENST00000458659.2	37	c.2985G>A	CCDS31966.1																																																																																				0.378	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		57	191	0	0	0	0	57	191				
TSC22D1	8848	broad.mit.edu	37	13	45149590	45149590	+	Missense_Mutation	SNP	C	C	G	rs371261364		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:45149590C>G	ENST00000458659.2	-	1	1111	c.621G>C	c.(619-621)caG>caC	p.Q207H	TSC22D1_ENST00000460842.1_5'Flank|TSC22D1_ENST00000501704.2_Missense_Mutation_p.Q207H	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	207	His-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TCACAACATTCTGTTGTGGAA	0.527																																						uc001uzn.3		NA																	0					0						c.(619-621)CAG>CAC		TSC22 domain family, member 1 isoform 1		C	HIS/GLN	0,4406		0,0,2203	101.0	77.0	85.0		621	2.8	1.0	13		85	1,8599	1.2+/-3.3	0,1,4299	no	missense	TSC22D1	NM_183422.3	24	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	benign	207/1074	45149590	1,13005	2203	4300	6503	SO:0001583	missense	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45149590C>G	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.621G>C	13.37:g.45149590C>G	ENSP00000397435:p.Gln207His					TSC22D1_uc001uzo.1_Missense_Mutation_p.Q207H	p.Q207H	NM_183422	NP_904358	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	1112	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	207			His-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	c.621G>C	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523551	0.44866	0.0	1.16E-4	ENSG00000102804	ENST00000458659;ENST00000501704	T;T	0.25912	1.77;1.77	4.58	2.85	0.33270	.	0.000000	0.52532	D	0.000061	T	0.29945	0.0749	L	0.27053	0.805	0.30131	N	0.8048	D;D	0.71674	0.998;0.998	P;P	0.60415	0.874;0.817	T	0.12400	-1.0549	10	0.62326	D	0.03	.	9.3958	0.38401	0.0:0.8242:0.0:0.1758	.	207;207	B3KRL7;Q15714	.;T22D1_HUMAN	H	207	ENSP00000397435:Q207H;ENSP00000437414:Q207H	ENSP00000397435:Q207H	Q	-	3	2	TSC22D1	44047590	0.997000	0.39634	0.998000	0.56505	0.897000	0.52465	0.422000	0.21296	0.555000	0.29079	0.561000	0.74099	CAG		0.527	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		10	33	0	0	0	0	10	33				
HTR2A	3356	broad.mit.edu	37	13	47409577	47409577	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:47409577C>G	ENST00000378688.4	-	3	942	c.811G>C	c.(811-813)Gat>Cat	p.D271H	HTR2A_ENST00000543956.1_Missense_Mutation_p.D187H|HTR2A_ENST00000542664.1_Missense_Mutation_p.D271H			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	271					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GTGCCAAGATCACTTACACAC	0.453																																						uc001vbq.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(811-813)GAT>CAT		5-hydroxytryptamine receptor 2A isoform 1	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						82.0	78.0	79.0					13																	47409577		2203	4300	6503	SO:0001583	missense	3356				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	g.chr13:47409577C>G	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.811G>C	13.37:g.47409577C>G	ENSP00000367959:p.Asp271His					HTR2A_uc001vbr.2_Missense_Mutation_p.D171H|HTR2A_uc010acr.2_Missense_Mutation_p.D271H	p.D271H	NM_000621	NP_000612	P28223	5HT2A_HUMAN		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	3	945	-		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	271			Cytoplasmic (By similarity).		B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	c.811G>C	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000467	0.54147	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.72167	-0.63;-0.63;-0.63	5.67	5.67	0.87782	GPCR, rhodopsin-like superfamily (1);	0.174236	0.51477	D	0.000093	T	0.60676	0.2287	N	0.11870	0.19	0.49130	D	0.999758	P;B	0.47604	0.898;0.281	P;B	0.49276	0.605;0.409	T	0.62840	-0.6769	10	0.44086	T	0.13	.	12.4384	0.55612	0.0:0.9235:0.0:0.0765	.	187;271	F5GWE8;P28223	.;5HT2A_HUMAN	H	271;187;271	ENSP00000367959:D271H;ENSP00000441861:D187H;ENSP00000437737:D271H	ENSP00000367959:D271H	D	-	1	0	HTR2A	46307578	1.000000	0.71417	0.983000	0.44433	0.976000	0.68499	5.160000	0.64929	2.835000	0.97688	0.591000	0.81541	GAT		0.453	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		26	66	0	0	0	0	26	66				
SPRYD7	57213	broad.mit.edu	37	13	50489231	50489231	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:50489231C>G	ENST00000361840.3	-	5	663	c.559G>C	c.(559-561)Gaa>Caa	p.E187Q	SPRYD7_ENST00000378195.2_Missense_Mutation_p.E148Q	NM_020456.2	NP_065189.1	Q5W111	SPRY7_HUMAN	SPRY domain containing 7	187										haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						AATATTTTTTCAAAACCAGGT	0.279																																						uc001vdl.2		NA																	0					0						c.(559-561)GAA>CAA		chromosome 13 open reading frame 1 isoform 1							46.0	49.0	48.0					13																	50489231		2203	4297	6500	SO:0001583	missense	57213							g.chr13:50489231C>G	AF055016	CCDS9422.1, CCDS45046.1	13q14.3	2011-05-25	2011-05-25	2011-05-25	ENSG00000123178	ENSG00000123178			14297	protein-coding gene	gene with protein product		607866	"""chromosome 13 open reading frame 1"""	C13orf1		11306461, 11771308	Standard	NM_020456		Approved	CLLD6	uc001vdl.2	Q5W111	OTTHUMG00000016924	ENST00000361840.3:c.559G>C	13.37:g.50489231C>G	ENSP00000354774:p.Glu187Gln					C13orf1_uc001vdm.2_Missense_Mutation_p.E148Q|C13orf1_uc010tgm.1_RNA	p.E187Q	NM_020456	NP_065189	Q5W111	SPRY7_HUMAN		GBM - Glioblastoma multiforme(99;1.72e-10)|COAD - Colon adenocarcinoma(199;0.208)	5	821	-		Lung NSC(96;7.5e-06)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Acute lymphoblastic leukemia(7;0.117)	187					A8K3G1|O60648|Q8TBG8|Q96T69	Missense_Mutation	SNP	ENST00000361840.3	37	c.559G>C	CCDS9422.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351330	0.61183	.	.	ENSG00000123178	ENST00000361840;ENST00000378195	T;T	0.60171	0.21;0.21	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);	0.094110	0.64402	D	0.000001	T	0.52964	0.1767	L	0.42487	1.325	0.80722	D	1	B;B	0.18741	0.009;0.03	B;B	0.10450	0.005;0.005	T	0.42916	-0.9423	10	0.27082	T	0.32	-21.9027	19.8983	0.96975	0.0:1.0:0.0:0.0	.	148;187	Q5W111-2;Q5W111	.;SPRY7_HUMAN	Q	187;148	ENSP00000354774:E187Q;ENSP00000367437:E148Q	ENSP00000354774:E187Q	E	-	1	0	SPRYD7	49387232	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.455000	0.80726	2.718000	0.92993	0.650000	0.86243	GAA		0.279	SPRYD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044942.2	NM_020456		14	79	0	0	0	0	14	79				
DHRS12	79758	broad.mit.edu	37	13	52348132	52348132	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:52348132C>T	ENST00000444610.2	-	7	562	c.549G>A	c.(547-549)ctG>ctA	p.L183L	DHRS12_ENST00000490949.1_5'UTR|DHRS12_ENST00000218981.1_Silent_p.L134L|DHRS12_ENST00000280056.2_Silent_p.L134L	NM_001270424.1	NP_001257353.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	183							oxidoreductase activity (GO:0016491)			cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		CATTGGTGTTCAGTTTCTGAA	0.443																																						uc001vfq.2		NA																	0					0						c.(547-549)CTG>CTA		RecName: Full=Dehydrogenase/reductase SDR family member 12;          EC=1.1.-.-;							194.0	160.0	171.0					13																	52348132		2203	4300	6503	SO:0001819	synonymous_variant	79758						binding|oxidoreductase activity	g.chr13:52348132C>T	AK023701	CCDS9430.1, CCDS31976.1, CCDS58292.1	13q14.3	2013-10-11			ENSG00000102796	ENSG00000102796		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	25832	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 40C, member 1"""					19027726	Standard	NM_001031719		Approved	FLJ13639, SDR40C1	uc001vfq.4	A0PJE2	OTTHUMG00000016952	ENST00000444610.2:c.549G>A	13.37:g.52348132C>T						DHRS12_uc001vfr.1_Silent_p.L134L|DHRS12_uc001vfs.1_Silent_p.L134L	p.L183L			A0PJE2	DHR12_HUMAN		GBM - Glioblastoma multiforme(99;2.81e-08)	7	597	-		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)	183					Q96GB2|Q9H8H1	Silent	SNP	ENST00000444610.2	37	c.549G>A	CCDS58292.1																																																																																				0.443	DHRS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045036.3	NM_024705		33	100	0	0	0	0	33	100				
RNF219	79596	broad.mit.edu	37	13	79190259	79190259	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:79190259G>A	ENST00000282003.6	-	6	1695	c.1637C>T	c.(1636-1638)tCa>tTa	p.S546L	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	546	Ser-rich.						zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GTCTGACTCTGACATCATTGA	0.413																																						uc001vkw.1		NA																	0				large_intestine(2)	2						c.(1636-1638)TCA>TTA		ring finger protein 219							146.0	147.0	147.0					13																	79190259		2203	4300	6503	SO:0001583	missense	79596						zinc ion binding	g.chr13:79190259G>A	BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.1637C>T	13.37:g.79190259G>A	ENSP00000282003:p.Ser546Leu					uc001vku.1_RNA|RNF219_uc010afb.1_Missense_Mutation_p.S356L|RNF219_uc010afc.2_Intron	p.S546L	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN		GBM - Glioblastoma multiforme(99;0.0414)	6	1696	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	546			Ser-rich.		B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	ENST00000282003.6	37	c.1637C>T	CCDS31997.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678178	0.68042	.	.	ENSG00000152193	ENST00000282003	T	0.14893	2.47	5.86	5.86	0.93980	.	0.000000	0.56097	D	0.000021	T	0.21674	0.0522	L	0.59436	1.845	0.40820	D	0.983491	P	0.38020	0.615	B	0.32211	0.142	T	0.02909	-1.1095	10	0.87932	D	0	-12.5827	20.2019	0.98263	0.0:0.0:1.0:0.0	.	546	Q5W0B1	RN219_HUMAN	L	546	ENSP00000282003:S546L	ENSP00000282003:S546L	S	-	2	0	RNF219	78088260	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.799000	0.69101	2.776000	0.95493	0.655000	0.94253	TCA		0.413	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1	NM_024546		50	210	0	0	0	0	50	210				
SLITRK5	26050	broad.mit.edu	37	13	88329668	88329668	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:88329668C>G	ENST00000325089.6	+	2	2244	c.2025C>G	c.(2023-2025)atC>atG	p.I675M	SLITRK5_ENST00000400028.3_Missense_Mutation_p.I434M	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	675					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGGTTTTCATCATGTCCGTCT	0.617																																						uc001vln.2		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(2023-2025)ATC>ATG		SLIT and NTRK-like family, member 5 precursor							120.0	122.0	121.0					13																	88329668		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88329668C>G	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2025C>G	13.37:g.88329668C>G	ENSP00000366283:p.Ile675Met					SLITRK5_uc010tic.1_Missense_Mutation_p.I434M	p.I675M	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	2244	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		675			Helical; (Potential).		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.2025C>G	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131603	0.77662	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.61392	0.11;0.41	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.75324	0.3834	M	0.73598	2.24	0.48087	D	0.999586	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.984	T	0.76293	-0.3012	9	.	.	.	-15.6287	16.2227	0.82267	0.0:1.0:0.0:0.0	.	434;675	B4DSH5;O94991	.;SLIK5_HUMAN	M	675;434	ENSP00000366283:I675M;ENSP00000442244:I434M	.	I	+	3	3	SLITRK5	87127669	0.916000	0.31088	1.000000	0.80357	0.913000	0.54294	0.070000	0.14573	2.404000	0.81709	0.555000	0.69702	ATC		0.617	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			14	61	0	0	0	0	14	61				
HS6ST3	266722	broad.mit.edu	37	13	96743704	96743704	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:96743704C>G	ENST00000376705.2	+	1	612	c.588C>G	c.(586-588)ctC>ctG	p.L196L		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	196					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					AGACGTGGCTCTTCTCCCGCT	0.637																																						uc001vmw.2		NA																	0				ovary(1)|skin(1)	2						c.(586-588)CTC>CTG		heparan sulfate 6-O-sulfotransferase 3							24.0	22.0	23.0					13																	96743704		2203	4299	6502	SO:0001819	synonymous_variant	266722					integral to membrane	sulfotransferase activity	g.chr13:96743704C>G	AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"""Sulfotransferases, membrane-bound"""	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.588C>G	13.37:g.96743704C>G							p.L196L	NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN			1	612	+	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		196			Lumenal (Potential).		Q5W0L0|Q68CW6	Silent	SNP	ENST00000376705.2	37	c.588C>G	CCDS9481.1																																																																																				0.637	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045517.2	NM_153456		3	18	0	0	0	0	3	18				
DOCK9	23348	broad.mit.edu	37	13	99549807	99549807	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:99549807G>C	ENST00000376460.1	-	15	1724	c.1644C>G	c.(1642-1644)atC>atG	p.I548M	DOCK9_ENST00000448493.2_Missense_Mutation_p.I560M|DOCK9_ENST00000442173.1_Missense_Mutation_p.I548M|DOCK9_ENST00000339416.2_Missense_Mutation_p.I549M	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	549					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTTGCCTGTAGATGGCAGAAA	0.388																																						uc001vnt.2		NA																	0				central_nervous_system(1)	1						c.(1645-1647)ATC>ATG		dedicator of cytokinesis 9 isoform a							226.0	220.0	222.0					13																	99549807		1876	4111	5987	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99549807G>C	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.1644C>G	13.37:g.99549807G>C	ENSP00000365643:p.Ile548Met					DOCK9_uc001vnw.2_Missense_Mutation_p.I548M|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.I549M|DOCK9_uc010tis.1_Missense_Mutation_p.I548M|DOCK9_uc010tit.1_Missense_Mutation_p.I549M|DOCK9_uc010afu.1_Missense_Mutation_p.I364M	p.I549M	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN			15	1702	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		549					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.1647C>G	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842006	0.32513	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.03242	4.0;4.0;4.0;4.0	5.25	2.52	0.30459	.	0.221268	0.40818	N	0.001009	T	0.04861	0.0131	L	0.57536	1.79	0.35977	D	0.835735	B;B;B;B;B	0.32507	0.117;0.356;0.373;0.114;0.071	B;B;B;B;B	0.37508	0.14;0.089;0.252;0.103;0.089	T	0.40021	-0.9585	9	.	.	.	.	4.2725	0.10794	0.1322:0.2291:0.5207:0.118	.	549;548;548;548;549	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	M	548;549;549;549;548;549;560;548	ENSP00000365643:I548M;ENSP00000341086:I549M;ENSP00000401958:I560M;ENSP00000406883:I548M	.	I	-	3	3	DOCK9	98347808	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.461000	0.35255	0.199000	0.20427	-0.181000	0.13052	ATC		0.388	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		57	275	0	0	0	0	57	275				
ERCC5	2073	broad.mit.edu	37	13	103514472	103514472	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:103514472C>G	ENST00000355739.4	+	8	2396	c.973C>G	c.(973-975)Cca>Gca	p.P325A	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.S750C|ERCC5_ENST00000375954.1_5'Flank	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	325					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GAAGTCATCTCCATGTGAAAA	0.453			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc001vpw.2		NA	yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		skin basal cell|skin squamous cell|melanoma			0				ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(973-975)CCA>GCA	Direct_reversal_of_damage|NER	XPG-complementing protein							113.0	119.0	117.0					13																	103514472		2203	4300	6503	SO:0001583	missense	2073	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding	g.chr13:103514472C>G	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.973C>G	13.37:g.103514472C>G	ENSP00000347978:p.Pro325Ala					ERCC5_uc001vpu.1_Missense_Mutation_p.P779A|ERCC5_uc010tjb.1_Missense_Mutation_p.P325A|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.P157A	p.P325A	NM_000123	NP_000114	P28715	ERCC5_HUMAN			8	1416	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		325					A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.973C>G	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	C	6.468	0.454472	0.12283	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.19669	2.13	4.74	3.88	0.44766	.	0.415837	0.26143	N	0.026100	T	0.27169	0.0666	M	0.66939	2.045	0.26809	N	0.969035	D;B;B	0.58620	0.983;0.236;0.15	P;B;B	0.53102	0.718;0.069;0.041	T	0.10064	-1.0646	10	0.12766	T	0.61	-14.3393	6.371	0.21481	0.1577:0.6826:0.0:0.1596	.	325;325;750	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	A	750;325;157	ENSP00000347978:P325A	ENSP00000347978:P325A	P	+	1	0	ERCC5	102312473	0.002000	0.14202	0.600000	0.28864	0.024000	0.10985	0.076000	0.14712	2.315000	0.78130	0.655000	0.94253	CCA		0.453	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			4	291	0	0	0	0	4	291				
MYO16	23026	broad.mit.edu	37	13	109438029	109438029	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:109438029T>C	ENST00000357550.2	+	4	529	c.488T>C	c.(487-489)tTa>tCa	p.L163S	MYO16_ENST00000356711.2_Missense_Mutation_p.L163S|MYO16_ENST00000467639.1_3'UTR|MYO16_ENST00000251041.5_Missense_Mutation_p.L163S	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AATATCCCATTAGATTATGCT	0.333																																						uc001vqt.1		NA																	0				ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(487-489)TTA>TCA		myosin heavy chain Myr 8							87.0	82.0	84.0					13																	109438029		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109438029T>C		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.488T>C	13.37:g.109438029T>C	ENSP00000350160:p.Leu163Ser					MYO16_uc010agk.1_Missense_Mutation_p.L185S	p.L163S	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		5	614	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		163			ANK 4.			Missense_Mutation	SNP	ENST00000357550.2	37	c.488T>C	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.135108	0.37728	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.67523	-0.27;-0.27;-0.27	5.18	5.18	0.71444	Ankyrin repeat-containing domain (3);	0.274240	0.18998	U	0.125406	T	0.81740	0.4886	M	0.82193	2.58	0.80722	D	1	B;D	0.69078	0.441;0.997	B;D	0.70716	0.213;0.97	T	0.83152	-0.0103	9	.	.	.	.	13.0105	0.58729	0.0:0.0:0.0:1.0	.	163;163	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	S	163	ENSP00000349145:L163S;ENSP00000350160:L163S;ENSP00000251041:L163S	.	L	+	2	0	MYO16	108236030	0.996000	0.38824	0.030000	0.17652	0.064000	0.16182	5.586000	0.67503	1.945000	0.56424	0.533000	0.62120	TTA		0.333	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		13	119	0	0	0	0	13	119				
MYO16	23026	broad.mit.edu	37	13	109496836	109496836	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:109496836G>A	ENST00000357550.2	+	9	1218	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	MYO16_ENST00000356711.2_Missense_Mutation_p.E393K|MYO16_ENST00000251041.5_Missense_Mutation_p.E393K	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CACCAAACCCGAGCAGGTAAT	0.388																																						uc001vqt.1		NA																	0				ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(1177-1179)GAG>AAG		myosin heavy chain Myr 8							107.0	104.0	105.0					13																	109496836		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109496836G>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.1177G>A	13.37:g.109496836G>A	ENSP00000350160:p.Glu393Lys					MYO16_uc010agk.1_Missense_Mutation_p.E415K|MYO16_uc001vqu.1_Missense_Mutation_p.E193K	p.E393K	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		10	1303	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		393						Missense_Mutation	SNP	ENST00000357550.2	37	c.1177G>A	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.531209	0.64972	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857	D;D;D	0.95238	-3.65;-3.65;-3.65	5.31	5.31	0.75309	.	0.000000	0.40908	U	0.000982	D	0.96809	0.8958	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.65684	0.9;0.937	D	0.96396	0.9293	9	.	.	.	.	18.3404	0.90303	0.0:0.0:1.0:0.0	.	393;393	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	K	393;393;393;393;181	ENSP00000349145:E393K;ENSP00000350160:E393K;ENSP00000251041:E393K	.	E	+	1	0	MYO16	108294837	1.000000	0.71417	0.944000	0.38274	0.240000	0.25518	5.514000	0.67043	2.638000	0.89438	0.650000	0.86243	GAG		0.388	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		18	63	0	0	0	0	18	63				
ARHGEF7	8874	broad.mit.edu	37	13	111927983	111927983	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr13:111927983C>T	ENST00000375741.2	+	13	1690	c.1440C>T	c.(1438-1440)gtC>gtT	p.V480V	ARHGEF7_ENST00000375737.5_Silent_p.V377V|ARHGEF7_ENST00000375723.1_Silent_p.V302V|ARHGEF7_ENST00000218789.5_Silent_p.V302V|ARHGEF7_ENST00000426073.2_Silent_p.V302V|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000317133.5_Silent_p.V459V|ARHGEF7_ENST00000478679.1_Silent_p.V224V|ARHGEF7_ENST00000375739.2_Silent_p.V430V|ARHGEF7_ENST00000370623.3_Silent_p.V387V|ARHGEF7_ENST00000544132.1_Silent_p.V136V|ARHGEF7_ENST00000375736.4_Silent_p.V302V	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	480	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGGGCAACGTCACTTACATGT	0.537																																						uc001vrs.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(1438-1440)GTC>GTT		PAK-interacting exchange factor beta isoform c							201.0	167.0	179.0					13																	111927983		2203	4300	6503	SO:0001819	synonymous_variant	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111927983C>T	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.1440C>T	13.37:g.111927983C>T						ARHGEF7_uc001vrr.2_Silent_p.V459V|ARHGEF7_uc001vrt.2_Silent_p.V430V|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Silent_p.V302V|ARHGEF7_uc001vrv.3_Silent_p.V302V|ARHGEF7_uc001vrw.3_Silent_p.V302V|ARHGEF7_uc001vrx.3_Silent_p.V302V|ARHGEF7_uc010tjo.1_Silent_p.V377V|ARHGEF7_uc010tjp.1_Silent_p.V224V|ARHGEF7_uc010agn.1_Silent_p.V224V	p.V480V	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		13	1690	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		480			PH.		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Silent	SNP	ENST00000375741.2	37	c.1440C>T	CCDS45068.1																																																																																				0.537	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		4	216	0	0	0	0	4	216				
OR11H4	390442	broad.mit.edu	37	14	20711066	20711066	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:20711066C>T	ENST00000315409.2	+	1	169	c.116C>T	c.(115-117)tCa>tTa	p.S39L		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TTCCTCTTCTCATTGTTTTTG	0.448																																						uc010tld.1		NA																	0				ovary(1)	1						c.(115-117)TCA>TTA		olfactory receptor, family 11, subfamily H,							86.0	75.0	78.0					14																	20711066		2203	4300	6503	SO:0001583	missense	390442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20711066C>T		CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"""GPCR / Class A : Olfactory receptors"""	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.116C>T	14.37:g.20711066C>T	ENSP00000318997:p.Ser39Leu						p.S39L	NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)	1	116	+	all_cancers(95;0.000888)		39			Helical; Name=1; (Potential).		B2RNQ4|Q6IF07	Missense_Mutation	SNP	ENST00000315409.2	37	c.116C>T	CCDS32034.1	.	.	.	.	.	.	.	.	.	.	C	3.236	-0.156352	0.06544	.	.	ENSG00000176198	ENST00000315409	T	0.00397	7.57	4.52	3.63	0.41609	.	0.470559	0.17919	N	0.157571	T	0.00178	0.0005	N	0.11870	0.19	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.14476	-1.0471	10	0.07813	T	0.8	0.007	10.076	0.42360	0.0:0.9004:0.0:0.0996	.	39	Q8NGC9	O11H4_HUMAN	L	39	ENSP00000318997:S39L	ENSP00000318997:S39L	S	+	2	0	OR11H4	19780906	0.000000	0.05858	0.152000	0.22495	0.969000	0.65631	-0.609000	0.05635	1.126000	0.42016	0.655000	0.94253	TCA		0.448	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1			29	177	0	0	0	0	29	177				
CCNB1IP1	57820	broad.mit.edu	37	14	20781915	20781915	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:20781915C>G	ENST00000398169.3	-	6	959	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.E115Q|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.E115Q|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.E115Q|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.E115Q|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.E115Q			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	115					blastocyst formation (GO:0001825)|chiasma assembly (GO:0051026)|protein ubiquitination (GO:0016567)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		AGATGGCCCTCAGCCTTGCTG	0.373			T	HMGA2	leiomyoma																																	uc001vwv.2		NA		Dom	yes		14	14q11.2	57820	T	"""cyclin B1 interacting protein 1, E3 ubiquitin protein ligase"""			M	HMGA2		leiomyoma	HMGA2/CCNB1IP1(2)	0				soft_tissue(2)|ovary(1)	3						c.(343-345)GAG>CAG		cyclin B1 interacting protein 1 isoform 3							52.0	47.0	49.0					14																	20781915		2203	4300	6503	SO:0001583	missense	57820					chromosome|nucleus	ligase activity|metal ion binding|protein binding	g.chr14:20781915C>G	AF216381	CCDS9547.1	14q11.2	2014-02-04	2011-01-31	2004-01-14	ENSG00000100814	ENSG00000100814			19437	protein-coding gene	gene with protein product	"""human enhancer of invasion 10"""	608249	"""chromosome 14 open reading frame 18"", ""cyclin B1 interacting protein 1"""	C14orf18		12612082, 21779533	Standard	NM_021178		Approved	HEI10	uc001vwy.4	Q9NPC3	OTTHUMG00000029509	ENST00000398169.3:c.343G>C	14.37:g.20781915C>G	ENSP00000381235:p.Glu115Gln					CCNB1IP1_uc001vww.2_Missense_Mutation_p.E115Q|CCNB1IP1_uc001vwx.2_Missense_Mutation_p.E115Q|CCNB1IP1_uc001vwy.2_Missense_Mutation_p.E115Q|CCNB1IP1_uc001vwz.2_Missense_Mutation_p.E115Q	p.E115Q	NM_182851	NP_878271	Q9NPC3	CIP1_HUMAN	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)	6	992	-	all_cancers(95;0.00092)	all_lung(585;0.235)	115						Missense_Mutation	SNP	ENST00000398169.3	37	c.343G>C	CCDS9547.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535662	0.45176	.	.	ENSG00000100814	ENST00000398160;ENST00000398169;ENST00000358932;ENST00000353689;ENST00000437553;ENST00000398163;ENST00000557665	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.46483	0.1395	L	0.36672	1.1	0.42198	D	0.991754	B	0.19583	0.037	B	0.17433	0.018	T	0.36817	-0.9732	9	0.19147	T	0.46	-16.6847	13.9281	0.63975	0.0:0.8466:0.1534:0.0	.	115	Q9NPC3	CIP1_HUMAN	Q	115	.	ENSP00000337396:E115Q	E	-	1	0	CCNB1IP1	19851755	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	4.124000	0.57924	2.442000	0.82660	0.561000	0.74099	GAG		0.373	CCNB1IP1-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073538.3	NM_021178, NM_182849, NM_182851, NM_182852		112	77	0	0	0	0	112	77				
MYH7	4625	broad.mit.edu	37	14	23882971	23882971	+	Silent	SNP	C	C	G	rs397516257		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:23882971C>G	ENST00000355349.3	-	39	5949	c.5787G>C	c.(5785-5787)acG>acC	p.T1929T	CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1929			T -> M (in CMH1). {ECO:0000269|PubMed:15358028}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GACCCACCTTCGTGCCAATGT	0.592																																						uc001wjx.2		NA																	0				ovary(3)|skin(1)	4						c.(5785-5787)ACG>ACC		myosin, heavy chain 7, cardiac muscle, beta							91.0	85.0	87.0					14																	23882971		2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23882971C>G	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5787G>C	14.37:g.23882971C>G							p.T1929T	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	39	5893	-	all_cancers(95;2.54e-05)		1929		T -> M (in CMH1).	Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.5787G>C	CCDS9601.1																																																																																				0.592	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		48	36	0	0	0	0	48	36				
PSME2	5721	broad.mit.edu	37	14	24614473	24614473	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:24614473C>G	ENST00000216802.5	-	5	880	c.241G>C	c.(241-243)Gat>Cat	p.D81H	PSME2_ENST00000560410.1_Missense_Mutation_p.D70H|RNF31_ENST00000324103.6_5'Flank|PSME2_ENST00000471700.2_5'UTR|RNF31_ENST00000559275.1_5'Flank	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	81					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		TCCTGCTTATCTGTTTCCATC	0.463																																						uc001wmj.2		NA																	0					0						c.(241-243)GAT>CAT		proteasome activator subunit 2							118.0	122.0	121.0					14																	24614473		2203	4300	6503	SO:0001583	missense	5721				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome activator complex		g.chr14:24614473C>G		CCDS9614.1	14q11.2	2010-03-10			ENSG00000100911	ENSG00000100911		"""Proteasome (prosome, macropain) subunits"""	9569	protein-coding gene	gene with protein product		602161				7789512	Standard	NM_002818		Approved	PA28beta	uc001wmj.3	Q9UL46	OTTHUMG00000028797	ENST00000216802.5:c.241G>C	14.37:g.24614473C>G	ENSP00000216802:p.Asp81His					PSME2_uc001wmk.2_Missense_Mutation_p.D4H|RNF31_uc001wml.1_5'Flank|RNF31_uc001wmm.1_5'Flank|RNF31_uc001wmn.1_5'Flank|RNF31_uc010alg.1_5'Flank	p.D81H	NM_002818	NP_002809	Q9UL46	PSME2_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	5	306	-			81					Q15129	Missense_Mutation	SNP	ENST00000216802.5	37	c.241G>C	CCDS9614.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095664	0.76870	.	.	ENSG00000100911	ENST00000216802	T	0.25085	1.82	5.41	5.41	0.78517	.	0.135091	0.64402	D	0.000004	T	0.38108	0.1028	L	0.55990	1.75	0.80722	D	1	D	0.57571	0.98	P	0.53809	0.735	T	0.07597	-1.0764	10	0.51188	T	0.08	-19.1563	14.6688	0.68929	0.0:1.0:0.0:0.0	.	81	Q9UL46	PSME2_HUMAN	H	81	ENSP00000216802:D81H	ENSP00000216802:D81H	D	-	1	0	PSME2	23684313	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.017000	0.64047	2.518000	0.84900	0.655000	0.94253	GAT		0.463	PSME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071918.3	NM_002818		6	151	0	0	0	0	6	151				
AKAP6	9472	broad.mit.edu	37	14	33290655	33290655	+	Missense_Mutation	SNP	G	G	A	rs374722869		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:33290655G>A	ENST00000280979.4	+	13	3806	c.3636G>A	c.(3634-3636)atG>atA	p.M1212I	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1212					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TAAATGGGATGAGTGAGGATG	0.393																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NA																	0				breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(3634-3636)ATG>ATA		A-kinase anchor protein 6							101.0	94.0	97.0					14																	33290655		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33290655G>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.3636G>A	14.37:g.33290655G>A	ENSP00000280979:p.Met1212Ile						p.M1212I	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	3806	+	Breast(36;0.0388)|Prostate(35;0.15)		1212					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.3636G>A	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	5.241	0.230015	0.09969	.	.	ENSG00000151320	ENST00000280979	T	0.04502	3.61	5.79	-4.92	0.03075	.	0.514786	0.21595	N	0.072030	T	0.02848	0.0085	L	0.29908	0.895	0.46849	D	0.999227	B	0.09022	0.002	B	0.06405	0.002	T	0.41858	-0.9485	10	0.27785	T	0.31	-0.8834	7.5159	0.27600	0.5075:0.2128:0.2797:0.0	.	1212	Q13023	AKAP6_HUMAN	I	1212	ENSP00000280979:M1212I	ENSP00000280979:M1212I	M	+	3	0	AKAP6	32360406	0.004000	0.15560	0.122000	0.21767	0.643000	0.38383	0.085000	0.14912	-0.552000	0.06167	0.655000	0.94253	ATG		0.393	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		107	88	0	0	0	0	107	88				
AKAP6	9472	broad.mit.edu	37	14	33291388	33291388	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:33291388G>A	ENST00000280979.4	+	13	4539	c.4369G>A	c.(4369-4371)Gaa>Aaa	p.E1457K	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1457					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TTTGGGAGAAGAATTACAAGG	0.363																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NA																	0				breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(4369-4371)GAA>AAA		A-kinase anchor protein 6							70.0	69.0	69.0					14																	33291388		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33291388G>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4369G>A	14.37:g.33291388G>A	ENSP00000280979:p.Glu1457Lys						p.E1457K	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	4539	+	Breast(36;0.0388)|Prostate(35;0.15)		1457					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.4369G>A	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648582	0.67358	.	.	ENSG00000151320	ENST00000280979	T	0.09817	2.94	5.55	5.55	0.83447	.	0.126264	0.53938	D	0.000048	T	0.32194	0.0821	M	0.65975	2.015	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.01159	-1.1433	10	0.87932	D	0	-16.1219	16.4107	0.83712	0.0:0.0:1.0:0.0	.	1457	Q13023	AKAP6_HUMAN	K	1457	ENSP00000280979:E1457K	ENSP00000280979:E1457K	E	+	1	0	AKAP6	32361139	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.272000	0.58908	2.606000	0.88127	0.563000	0.77884	GAA		0.363	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		35	28	0	0	0	0	35	28				
SSTR1	6751	broad.mit.edu	37	14	38678632	38678632	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:38678632C>G	ENST00000267377.2	+	3	655	c.38C>G	c.(37-39)tCt>tGt	p.S13C		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	13					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	CCTTCCTCCTCTCCTAGCCCC	0.746																																						uc001wul.1		NA																	0				central_nervous_system(3)|ovary(1)|lung(1)	5						c.(37-39)TCT>TGT		somatostatin receptor 1	Octreotide(DB00104)						14.0	13.0	13.0					14																	38678632		2178	4234	6412	SO:0001583	missense	6751				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38678632C>G		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.38C>G	14.37:g.38678632C>G	ENSP00000267377:p.Ser13Cys					SSTR1_uc010amu.1_RNA	p.S13C	NM_001049	NP_001040	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	655	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		13			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000267377.2	37	c.38C>G	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469796	0.43839	.	.	ENSG00000139874	ENST00000267377	T	0.71461	-0.57	5.17	5.17	0.71159	.	0.160951	0.29493	N	0.011998	T	0.50394	0.1613	N	0.19112	0.55	0.33097	D	0.538727	P	0.38078	0.617	B	0.28553	0.091	T	0.63932	-0.6525	10	0.37606	T	0.19	.	11.8297	0.52288	0.0:0.824:0.176:0.0	.	13	P30872	SSR1_HUMAN	C	13	ENSP00000267377:S13C	ENSP00000267377:S13C	S	+	2	0	SSTR1	37748383	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.281000	0.33214	2.700000	0.92200	0.563000	0.77884	TCT		0.746	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2			11	6	0	0	0	0	11	6				
RPL10L	140801	broad.mit.edu	37	14	47120418	47120418	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:47120418C>T	ENST00000298283.3	-	1	610	c.522G>A	c.(520-522)acG>acA	p.T174T		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	174					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CATTAAACTTCGTGAAGCCCC	0.507																																						uc001wwg.2		NA																	0				ovary(1)	1						c.(520-522)ACG>ACA		ribosomal protein L10-like protein							101.0	100.0	100.0					14																	47120418		2203	4300	6503	SO:0001819	synonymous_variant	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120418C>T	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.522G>A	14.37:g.47120418C>T							p.T174T	NM_080746	NP_542784	Q96L21	RL10L_HUMAN			1	611	-			174					Q8IUD1	Silent	SNP	ENST00000298283.3	37	c.522G>A	CCDS32071.1																																																																																				0.507	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			106	77	0	0	0	0	106	77				
FRMD6	122786	broad.mit.edu	37	14	52182162	52182162	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:52182162C>G	ENST00000344768.5	+	10	1165	c.969C>G	c.(967-969)ctC>ctG	p.L323L	FRMD6_ENST00000553556.1_5'Flank|FRMD6_ENST00000356218.4_Silent_p.L315L|FRMD6_ENST00000554167.1_Silent_p.L246L|FRMD6_ENST00000395718.2_Silent_p.L315L			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	323	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GCCACCGCCTCTATATGAATC	0.557																																						uc001wzd.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(967-969)CTC>CTG		FERM domain containing 6							59.0	63.0	62.0					14																	52182162		2203	4300	6503	SO:0001819	synonymous_variant	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52182162C>G	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.969C>G	14.37:g.52182162C>G						FRMD6_uc001wzb.2_Silent_p.L315L|FRMD6_uc001wzc.2_Silent_p.L315L|FRMD6_uc001wze.2_Silent_p.L246L|FRMD6_uc001wzf.2_Silent_p.L16L|FRMD6_uc001wzg.2_5'Flank	p.L323L	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN			10	1254	+	all_epithelial(31;0.0163)|Breast(41;0.089)		323			FERM.		D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Silent	SNP	ENST00000344768.5	37	c.969C>G	CCDS58318.1																																																																																				0.557	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		52	29	0	0	0	0	52	29				
DDHD1	80821	broad.mit.edu	37	14	53513591	53513591	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:53513591C>T	ENST00000323669.5	-	13	2597	c.2598G>A	c.(2596-2598)tcG>tcA	p.S866S	DDHD1_ENST00000357758.3_Silent_p.S838S|DDHD1_ENST00000555621.1_5'Flank|DDHD1_ENST00000395606.1_Silent_p.S845S	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	866	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					AGGCAGTATGCGACGTGACAG	0.408																																						uc001xai.2		NA																	0				ovary(2)	2						c.(2596-2598)TCG>TCA		DDHD domain containing 1 isoform c							140.0	119.0	126.0					14																	53513591		2203	4300	6503	SO:0001819	synonymous_variant	80821				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53513591C>T	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.2598G>A	14.37:g.53513591C>T						DDHD1_uc001xaj.2_Silent_p.S845S|DDHD1_uc001xah.2_Silent_p.S838S|DDHD1_uc001xag.2_Silent_p.S420S	p.S866S	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN			13	2828	-	Breast(41;0.037)		866			DDHD.		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Silent	SNP	ENST00000323669.5	37	c.2598G>A	CCDS53895.1																																																																																				0.408	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			4	116	0	0	0	0	4	116				
TMEM260	54916	broad.mit.edu	37	14	57052606	57052606	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:57052606C>G	ENST00000261556.6	+	3	442	c.320C>G	c.(319-321)tCa>tGa	p.S107*	TMEM260_ENST00000538838.1_Nonsense_Mutation_p.S107*|TMEM260_ENST00000536419.1_5'UTR	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	107						integral component of membrane (GO:0016021)											GTAGCTGCATCATTACTTTTT	0.378																																						uc001xcm.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(319-321)TCA>TGA		hypothetical protein LOC54916							203.0	184.0	190.0					14																	57052606		2203	4300	6503	SO:0001587	stop_gained	54916					integral to membrane		g.chr14:57052606C>G	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.320C>G	14.37:g.57052606C>G	ENSP00000261556:p.Ser107*					C14orf101_uc001xcj.2_RNA|C14orf101_uc001xck.2_Nonsense_Mutation_p.S107*|C14orf101_uc010aot.1_Nonsense_Mutation_p.S107*|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_Translation_Start_Site	p.S107*	NM_017799	NP_060269	Q9NX78	CN101_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;0.226)	3	442	+			107			Helical; (Potential).		A8KAN4|B3KPF5|Q86XE1	Nonsense_Mutation	SNP	ENST00000261556.6	37	c.320C>G	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646367	0.87958	.	.	ENSG00000070269	ENST00000556810;ENST00000261556;ENST00000538838	.	.	.	5.58	5.58	0.84498	.	0.685895	0.14222	N	0.333332	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-14.8832	19.5475	0.95305	0.0:1.0:0.0:0.0	.	.	.	.	X	70;107;107	.	ENSP00000261556:S107X	S	+	2	0	C14orf101	56122359	0.069000	0.21087	0.285000	0.24819	0.984000	0.73092	3.457000	0.53007	2.628000	0.89032	0.563000	0.77884	TCA		0.378	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		141	129	0	0	0	0	141	129				
DHRS7	51635	broad.mit.edu	37	14	60619717	60619717	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:60619717G>A	ENST00000216500.5	-	5	1028	c.573C>T	c.(571-573)atC>atT	p.I191I	DHRS7_ENST00000553986.1_5'UTR|PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000557185.1_Silent_p.I191I|PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000536410.2_Silent_p.I141I			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	191						membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		TGATACCCAGGATGCTATTCA	0.433																																						uc001xes.2		NA																	0				ovary(1)	1						c.(571-573)ATC>ATT		dehydrogenase/reductase (SDR family) member 7							163.0	131.0	142.0					14																	60619717		2203	4300	6503	SO:0001819	synonymous_variant	51635						binding|oxidoreductase activity	g.chr14:60619717G>A	AF151844	CCDS9743.1	14q23.1	2011-09-20			ENSG00000100612	ENSG00000100612		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	21524	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 4"", ""short chain dehydrogenase/reductase family 34C, member 1"""	612833				10800688, 10810093, 19027726	Standard	NM_016029		Approved	retDSR4, SDR34C1	uc001xes.3	Q9Y394	OTTHUMG00000140331	ENST00000216500.5:c.573C>T	14.37:g.60619717G>A						C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Silent_p.I141I|DHRS7_uc001xeu.2_Silent_p.I191I	p.I191I	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.121)	4	757	-			191					B2R896|Q9UKU2	Silent	SNP	ENST00000216500.5	37	c.573C>T	CCDS9743.1	.	.	.	.	.	.	.	.	.	.	G	6.633	0.485281	0.12641	.	.	ENSG00000100612	ENST00000557751;ENST00000554101	.	.	.	5.42	-7.07	0.01563	.	.	.	.	.	T	0.35828	0.0945	.	.	.	0.50632	D	0.999884	.	.	.	.	.	.	T	0.43065	-0.9414	4	.	.	.	.	2.496	0.04621	0.3159:0.3749:0.1592:0.15	.	.	.	.	F	59;186	.	.	S	-	2	0	DHRS7	59689470	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-1.324000	0.02690	-0.888000	0.03956	0.563000	0.77884	TCC		0.433	DHRS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276947.2	NM_016029		109	94	0	0	0	0	109	94				
SYNE2	23224	broad.mit.edu	37	14	64669652	64669652	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:64669652G>C	ENST00000344113.4	+	100	18384	c.18172G>C	c.(18172-18174)Gag>Cag	p.E6058Q	SYNE2_ENST00000555022.1_5'Flank|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6058Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6020Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2443Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2692Q|SYNE2_ENST00000357395.3_Missense_Mutation_p.E2443Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6058					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CGATGATCAAGAGATCCAGAA	0.512																																						uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(18172-18174)GAG>CAG		spectrin repeat containing, nuclear envelope 2							105.0	94.0	98.0					14																	64669652		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64669652G>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.18172G>C	14.37:g.64669652G>C	ENSP00000341781:p.Glu6058Gln					SYNE2_uc001xgl.2_Missense_Mutation_p.E6058Q|SYNE2_uc010apy.2_Missense_Mutation_p.E2443Q|SYNE2_uc001xgn.2_Missense_Mutation_p.E1020Q|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.E28Q|SYNE2_uc001xgq.2_Missense_Mutation_p.E423Q	p.E6058Q	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	100	18402	+			6058			Cytoplasmic (Potential).|Spectrin 6.		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.18172G>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987122	0.93106	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000556906	T;T;T;T;T;T;T	0.54675	0.56;1.42;0.56;0.56;1.42;1.42;1.42	5.93	5.93	0.95920	.	0.000000	0.52532	D	0.000076	T	0.74711	0.3752	M	0.75447	2.3	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.999;0.998;1.0;0.999	T	0.74331	-0.3700	10	0.56958	D	0.05	.	20.3409	0.98764	0.0:0.0:1.0:0.0	.	2443;446;6020;6058;6058	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	Q	6058;2443;6058;6020;6026;2692;2443;28	ENSP00000350719:E6058Q;ENSP00000349969:E2443Q;ENSP00000341781:E6058Q;ENSP00000452570:E6020Q;ENSP00000450831:E2692Q;ENSP00000378249:E2443Q;ENSP00000452298:E28Q	ENSP00000261678:E6026Q	E	+	1	0	SYNE2	63739405	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	9.869000	0.99810	2.814000	0.96858	0.655000	0.94253	GAG		0.512	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		53	43	0	0	0	0	53	43				
MPP5	64398	broad.mit.edu	37	14	67784156	67784156	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:67784156G>C	ENST00000261681.4	+	11	1990	c.1329G>C	c.(1327-1329)aaG>aaC	p.K443N	MPP5_ENST00000555925.1_Missense_Mutation_p.K409N|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	443					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		AGAATAAAAAGAAGAGGAAAA	0.338																																						uc001xjc.2		NA																	0				ovary(1)	1						c.(1327-1329)AAG>AAC		membrane protein, palmitoylated 5							91.0	94.0	93.0					14																	67784156		2203	4297	6500	SO:0001583	missense	64398				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding	g.chr14:67784156G>C	AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1329G>C	14.37:g.67784156G>C	ENSP00000261681:p.Lys443Asn					MPP5_uc001xjd.2_Missense_Mutation_p.K409N|ATP6V1D_uc001xje.2_Intron	p.K443N	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN		all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)	11	1795	+			443					A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	ENST00000261681.4	37	c.1329G>C	CCDS9779.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722748	0.89298	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	D;D	0.83591	-1.74;-1.74	5.72	5.72	0.89469	Src homology-3 domain (1);	0.048419	0.85682	D	0.000000	D	0.88727	0.6515	L	0.54323	1.7	0.80722	D	1	P	0.52692	0.955	P	0.60345	0.873	D	0.88382	0.3002	10	0.56958	D	0.05	.	19.8724	0.96855	0.0:0.0:1.0:0.0	.	443	Q8N3R9	MPP5_HUMAN	N	443;409	ENSP00000261681:K443N;ENSP00000451488:K409N	ENSP00000261681:K443N	K	+	3	2	MPP5	66853909	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.738000	0.74822	2.694000	0.91930	0.555000	0.69702	AAG		0.338	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1	NM_022474		42	34	0	0	0	0	42	34				
PLEKHH1	57475	broad.mit.edu	37	14	68043190	68043190	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:68043190G>T	ENST00000329153.5	+	17	2563	c.2431G>T	c.(2431-2433)Gga>Tga	p.G811*	PLEKHH1_ENST00000417684.2_5'Flank	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	811						cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GCAGCTCATTGGAAAACTGAT	0.562																																						uc001xjl.1		NA																	0					0						c.(2431-2433)GGA>TGA		pleckstrin homology domain containing, family H							67.0	67.0	67.0					14																	68043190		2029	4165	6194	SO:0001587	stop_gained	57475					cytoskeleton	binding	g.chr14:68043190G>T	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.2431G>T	14.37:g.68043190G>T	ENSP00000330278:p.Gly811*					PLEKHH1_uc010tsw.1_Nonsense_Mutation_p.G379*|PLEKHH1_uc001xjn.1_Nonsense_Mutation_p.G326*|PLEKHH1_uc010tsx.1_5'Flank	p.G811*	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	17	2573	+			811					A6H8X6|Q6PJL4|Q6ZWC7	Nonsense_Mutation	SNP	ENST00000329153.5	37	c.2431G>T	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	G	40	8.255300	0.98729	.	.	ENSG00000054690	ENST00000329153	.	.	.	4.81	3.89	0.44902	.	0.053212	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-9.4957	10.3566	0.43967	0.0:0.1466:0.7012:0.1521	.	.	.	.	X	811	.	ENSP00000330278:G811X	G	+	1	0	PLEKHH1	67112943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.392000	0.66272	1.343000	0.45638	0.643000	0.83706	GGA		0.562	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		49	39	1	0	3.71e-28	3.98e-28	49	39				
PCNX	22990	broad.mit.edu	37	14	71428976	71428976	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:71428976C>A	ENST00000304743.2	+	3	842	c.396C>A	c.(394-396)ttC>ttA	p.F132L	PCNX_ENST00000439984.3_Missense_Mutation_p.F132L|PCNX_ENST00000238570.5_Missense_Mutation_p.F132L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	132						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGTCTGAGTTCATCCGAGAGG	0.443																																						uc001xmo.2		NA																	0				ovary(1)	1						c.(394-396)TTC>TTA		pecanex-like 1							181.0	182.0	182.0					14																	71428976		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71428976C>A	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.396C>A	14.37:g.71428976C>A	ENSP00000304192:p.Phe132Leu					PCNX_uc001xmn.3_Missense_Mutation_p.F132L|PCNX_uc010are.1_Missense_Mutation_p.F132L	p.F132L	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	3	842	+			132					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.396C>A	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515440	0.44763	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.44482	0.92;0.92;0.92	5.29	0.231	0.15377	.	0.117810	0.56097	D	0.000027	T	0.42177	0.1191	L	0.27053	0.805	0.44492	D	0.997439	P;P;D	0.61697	0.956;0.956;0.99	D;D;D	0.72982	0.931;0.931;0.979	T	0.26258	-1.0108	10	0.07175	T	0.84	.	12.4416	0.55627	0.0:0.5597:0.0:0.4403	.	132;132;132	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	L	132	ENSP00000304192:F132L;ENSP00000238570:F132L;ENSP00000396617:F132L	ENSP00000238570:F132L	F	+	3	2	PCNX	70498729	0.967000	0.33354	0.995000	0.50966	0.935000	0.57460	0.030000	0.13688	-0.126000	0.11682	-1.094000	0.02160	TTC		0.443	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		6	469	1	0	0.00307968	0.003127	6	469				
DNAL1	83544	broad.mit.edu	37	14	74125577	74125577	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:74125577G>T	ENST00000553645.2	+	3	111	c.70G>T	c.(70-72)Gaa>Taa	p.E24*	DNAL1_ENST00000554871.1_5'UTR|DNAL1_ENST00000540526.1_5'UTR|DNAL1_ENST00000554339.1_Intron|DNAL1_ENST00000311089.3_Intron|RNU6-240P_ENST00000516098.1_RNA	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN	dynein, axonemal, light chain 1	24										kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		GAGGCCATCTGAAGCCAAAGA	0.403																																						uc001xoq.3		NA																	0					0						c.(70-72)GAA>TAA		axonemal dynein light chain 1							173.0	170.0	171.0					14																	74125577		1821	4089	5910	SO:0001587	stop_gained	83544							g.chr14:74125577G>T	BC005343	CCDS45134.1, CCDS55928.1	14q24.3	2012-05-03	2006-09-04	2006-09-04	ENSG00000119661	ENSG00000119661			23247	protein-coding gene	gene with protein product		610062	"""chromosome 14 open reading frame 168"""	C14orf168		15845866	Standard	NM_031427		Approved	MGC12435, 1700010H15RiK, CILD16	uc001xoq.4	Q4LDG9		ENST00000553645.2:c.70G>T	14.37:g.74125577G>T	ENSP00000452037:p.Glu24*					DNAL1_uc010aru.2_5'UTR|DNAL1_uc010arv.2_Intron	p.E24*	NM_031427	NP_113615	Q4LDG9	DNAL1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)	3	235	+			24					B2RD38|Q5JPB7|Q9BS43	Nonsense_Mutation	SNP	ENST00000553645.2	37	c.70G>T	CCDS45134.1	.	.	.	.	.	.	.	.	.	.	G	37	6.118184	0.97300	.	.	ENSG00000119661	ENST00000553645	.	.	.	5.71	5.71	0.89125	.	0.151493	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-11.2649	18.6207	0.91319	0.0:0.0:1.0:0.0	.	.	.	.	X	24	.	ENSP00000310360:E24X	E	+	1	0	DNAL1	73195330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.659000	0.91116	2.701000	0.92244	0.563000	0.77884	GAA		0.403	DNAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414565.2	NM_031427		269	171	1	0	3.1e-119	3.36e-119	269	171				
ANGEL1	23357	broad.mit.edu	37	14	77269772	77269772	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:77269772G>A	ENST00000251089.2	-	7	1672	c.1560C>T	c.(1558-1560)atC>atT	p.I520I	ANGEL1_ENST00000557179.1_Silent_p.I85I	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	520										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GCTGACAAGCGATGCTGCAGA	0.473																																						uc001xsv.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1558-1560)ATC>ATT		angel homolog 1							117.0	111.0	113.0					14																	77269772		2203	4300	6503	SO:0001819	synonymous_variant	23357							g.chr14:77269772G>A	AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.1560C>T	14.37:g.77269772G>A						ANGEL1_uc010tvf.1_Intron	p.I520I	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)	7	1673	-			520					B4DWL7|O94859|Q8NCS9	Silent	SNP	ENST00000251089.2	37	c.1560C>T	CCDS9852.1																																																																																				0.473	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305		83	61	0	0	0	0	83	61				
SNW1	22938	broad.mit.edu	37	14	78184606	78184606	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:78184606G>C	ENST00000261531.7	-	14	1498	c.1436C>G	c.(1435-1437)tCt>tGt	p.S479C	SNW1_ENST00000555761.1_Missense_Mutation_p.L506V|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.S317C|SLIRP_ENST00000557623.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	479					cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GTCTGAACCAGAAAACTCCTT	0.428																																						uc001xuf.2		NA																	0				ovary(1)	1						c.(1435-1437)TCT>TGT		SKI-interacting protein							138.0	148.0	144.0					14																	78184606		2203	4300	6503	SO:0001583	missense	22938				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding	g.chr14:78184606G>C	AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"""SKI interacting protein"""	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.1436C>G	14.37:g.78184606G>C	ENSP00000261531:p.Ser479Cys					SNW1_uc010tvm.1_Missense_Mutation_p.S404C|SNW1_uc010asu.2_Missense_Mutation_p.S317C|SNW1_uc010tvn.1_Missense_Mutation_p.L506V	p.S479C	NM_012245	NP_036377	Q13573	SNW1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	14	1463	-			479					A8K8A9|Q13483|Q32N03|Q5D0D6	Missense_Mutation	SNP	ENST00000261531.7	37	c.1436C>G	CCDS9867.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.63|16.63	3.175905|3.175905	0.57692|0.57692	.|.	.|.	ENSG00000100603|ENSG00000100603	ENST00000555761|ENST00000261531;ENST00000554775	.|.	.|.	.|.	5.67|5.67	4.77|4.77	0.60923|0.60923	.|.	.|0.053871	.|0.85682	.|D	.|0.000000	T|T	0.63248|0.63248	0.2495|0.2495	M|M	0.86502|0.86502	2.82|2.82	0.22684|0.22684	N|N	0.998858|0.998858	B|D	0.13594|0.63046	0.008|0.992	B|P	0.18561|0.49561	0.022|0.615	T|T	0.64989|0.64989	-0.6277|-0.6277	7|9	.|0.87932	.|D	.|0	.|.	15.9754|15.9754	0.80060|0.80060	0.0:0.0:0.8641:0.1359|0.0:0.0:0.8641:0.1359	.|.	506|479	G3V3A4|Q13573	.|SNW1_HUMAN	V|C	506|479;317	.|.	.|ENSP00000261531:S479C	L|S	-|-	1|2	2|0	SNW1|SNW1	77254359|77254359	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	9.129000|9.129000	0.94430|0.94430	1.392000|1.392000	0.46585|0.46585	-0.535000|-0.535000	0.04281|0.04281	CTG|TCT		0.428	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413912.1	NM_012245		9	445	0	0	0	0	9	445				
ADCK1	57143	broad.mit.edu	37	14	78374175	78374175	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:78374175G>A	ENST00000238561.5	+	7	870	c.771G>A	c.(769-771)acG>acA	p.T257T	ADCK1_ENST00000341211.5_Silent_p.T189T	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	264	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T257T(1)|p.T189T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ACCTGTCCACGGAGCGGGTCC	0.567																																						uc001xui.2		NA																	2	Substitution - coding silent(2)		lung(2)	stomach(2)|ovary(1)	3						c.(769-771)ACG>ACA		aarF domain containing kinase 1 isoform a							86.0	74.0	78.0					14																	78374175		2203	4300	6503	SO:0001819	synonymous_variant	57143					extracellular region	ATP binding|protein serine/threonine kinase activity	g.chr14:78374175G>A	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.771G>A	14.37:g.78374175G>A						ADCK1_uc010tvo.1_RNA|ADCK1_uc001xuj.2_Silent_p.T189T|ADCK1_uc001xuk.1_Silent_p.T131T	p.T257T	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)	7	870	+			264			Protein kinase.		B3KUD5|Q6PD65|Q9UIE6	Silent	SNP	ENST00000238561.5	37	c.771G>A	CCDS9869.1																																																																																				0.567	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413864.1	NM_020421		31	26	0	0	0	0	31	26				
NRXN3	9369	broad.mit.edu	37	14	79181351	79181351	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:79181351C>G	ENST00000554719.1	+	5	1285	c.794C>G	c.(793-795)tCc>tGc	p.S265C	NRXN3_ENST00000335750.5_Missense_Mutation_p.S265C	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTCAAGTCCTCCTGTTCACGG	0.562																																						uc001xun.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(793-795)TCC>TGC		neurexin 3 isoform 1 precursor							72.0	61.0	64.0					14																	79181351		2203	4300	6503	SO:0001583	missense	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79181351C>G	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.794C>G	14.37:g.79181351C>G	ENSP00000451648:p.Ser265Cys					NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.S399C	p.S265C	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	5	1285	+		Renal(4;0.00876)	638			Extracellular (Potential).|Laminin G-like 3.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.794C>G	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036145	0.75617	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.76968	-1.06;-1.06	5.91	5.91	0.95273	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.058706	0.64402	D	0.000001	D	0.88800	0.6535	.	.	.	0.58432	D	0.999999	D;B	0.76494	0.999;0.287	D;B	0.76071	0.987;0.045	D	0.87634	0.2518	8	.	.	.	.	20.3018	0.98617	0.0:1.0:0.0:0.0	.	638;265	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	C	638;636;265;265	ENSP00000451648:S265C;ENSP00000338349:S265C	.	S	+	2	0	NRXN3	78251104	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.089000	0.71384	2.799000	0.96334	0.650000	0.86243	TCC		0.562	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		3	118	0	0	0	0	3	118				
TTC7B	145567	broad.mit.edu	37	14	91123528	91123528	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:91123528G>A	ENST00000328459.6	-	11	1452	c.1331C>T	c.(1330-1332)tCc>tTc	p.S444F	TTC7B_ENST00000357056.2_Missense_Mutation_p.S444F	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	444										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CCAGTGCAGGGAGCCCATGCA	0.622																																						uc001xyp.2		NA																	0				ovary(2)	2						c.(1330-1332)TCC>TTC		tetratricopeptide repeat domain 7B							66.0	67.0	67.0					14																	91123528		2203	4300	6503	SO:0001583	missense	145567						binding	g.chr14:91123528G>A	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.1331C>T	14.37:g.91123528G>A	ENSP00000336127:p.Ser444Phe					TTC7B_uc010ats.2_RNA	p.S444F	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN			11	1453	-		Melanoma(154;0.222)	444					Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	c.1331C>T	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308609	0.60305	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000540938	T;T	0.78924	-1.22;-1.22	5.45	5.45	0.79879	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.163737	0.56097	D	0.000026	T	0.77219	0.4098	L	0.50333	1.59	0.58432	D	0.999994	P	0.52842	0.956	P	0.44732	0.459	T	0.77313	-0.2634	10	0.40728	T	0.16	-23.0519	19.6632	0.95882	0.0:0.0:1.0:0.0	.	444	Q86TV6	TTC7B_HUMAN	F	342;444;444;186	ENSP00000349564:S444F;ENSP00000336127:S444F	ENSP00000336127:S444F	S	-	2	0	TTC7B	90193281	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.527000	0.81931	2.716000	0.92895	0.655000	0.94253	TCC		0.622	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			97	65	0	0	0	0	97	65				
UNC79	57578	broad.mit.edu	37	14	94084637	94084637	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:94084637G>A	ENST00000393151.2	+	29	4324	c.4324G>A	c.(4324-4326)Gcc>Acc	p.A1442T	UNC79_ENST00000256339.4_Missense_Mutation_p.A1265T|UNC79_ENST00000555664.1_Missense_Mutation_p.A1442T|UNC79_ENST00000553484.1_Missense_Mutation_p.A1464T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1442					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A1464P(1)|p.A1265P(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CAAGCCCCATGCCACGGCAGG	0.423																																						uc001ybv.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(3859-3861)GCC>ACC		hypothetical protein LOC57578							99.0	83.0	89.0					14																	94084637		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94084637G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4324G>A	14.37:g.94084637G>A	ENSP00000376858:p.Ala1442Thr					KIAA1409_uc001ybs.1_Missense_Mutation_p.A1265T	p.A1287T	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	27	3942	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1442					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.3859G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.539092	0.96474	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.20463	2.07;2.11;2.12;2.07	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.32346	0.0826	N	0.22421	0.69	0.51233	D	0.999911	D	0.71674	0.998	D	0.78314	0.991	T	0.02546	-1.1143	10	0.09338	T	0.73	-10.4401	20.5407	0.99260	0.0:0.0:1.0:0.0	.	1464	C9JQL1	.	T	1265;1442;1464;1442;1464	ENSP00000256339:A1265T;ENSP00000450868:A1442T;ENSP00000451360:A1464T;ENSP00000376858:A1442T	ENSP00000256339:A1265T	A	+	1	0	KIAA1409	93154390	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	7.315000	0.78998	2.865000	0.98341	0.655000	0.94253	GCC		0.423	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		71	46	0	0	0	0	71	46				
DDX24	57062	broad.mit.edu	37	14	94526564	94526564	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:94526564G>A	ENST00000330836.5	-	5	1924	c.1793C>T	c.(1792-1794)tCc>tTc	p.S598F	DDX24_ENST00000544005.1_Missense_Mutation_p.S348F|DDX24_ENST00000555054.1_Missense_Mutation_p.S555F	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	598	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TTTGATGCAGGAGATACTGTT	0.498																																						uc001ycj.2		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1792-1794)TCC>TTC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 24							138.0	122.0	127.0					14																	94526564		2203	4300	6503	SO:0001583	missense	57062				RNA metabolic process	cytoplasm|nucleolus|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94526564G>A	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.1793C>T	14.37:g.94526564G>A	ENSP00000328690:p.Ser598Phe					DDX24_uc010twq.1_Missense_Mutation_p.S555F|DDX24_uc010twr.1_Missense_Mutation_p.S348F	p.S598F	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	5	1892	-		all_cancers(154;0.12)	598			Helicase C-terminal.		E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	c.1793C>T	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165236	0.57476	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000543787;ENST00000555054;ENST00000542247	T;T;T	0.05139	3.49;3.49;3.49	5.87	4.88	0.63580	Helicase, C-terminal (1);	0.094270	0.64402	D	0.000001	T	0.12008	0.0292	L	0.33189	0.99	0.44985	D	0.998	D	0.64830	0.994	P	0.57776	0.827	T	0.00249	-1.1879	10	0.72032	D	0.01	-13.1634	11.9439	0.52918	0.0:0.0:0.6439:0.3561	.	598	Q9GZR7	DDX24_HUMAN	F	598;348;543;224;555;555	ENSP00000328690:S598F;ENSP00000440623:S348F;ENSP00000452145:S555F	ENSP00000328690:S598F	S	-	2	0	DDX24	93596317	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	5.668000	0.68074	2.941000	0.99782	0.655000	0.94253	TCC		0.498	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		67	42	0	0	0	0	67	42				
GSC	145258	broad.mit.edu	37	14	95235376	95235376	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:95235376G>A	ENST00000238558.3	-	2	743	c.534C>T	c.(532-534)ctC>ctT	p.L178L		NM_173849.2	NP_776248.1	P56915	GSC_HUMAN	goosecoid homeobox	178					dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|gastrulation (GO:0007369)|middle ear morphogenesis (GO:0042474)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell fate specification (GO:0014036)|signal transduction involved in regulation of gene expression (GO:0023019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)			skin(1)	1		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)		TCTCCTGGAAGAGGTTCTCGA	0.667																																					Pancreas(105;2165 2186 4892 18008)	uc001ydu.2		NA																	0					0						c.(532-534)CTC>CTT		goosecoid							16.0	17.0	17.0					14																	95235376		2200	4297	6497	SO:0001819	synonymous_variant	145258				gastrulation|middle ear morphogenesis		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:95235376G>A		CCDS9930.1	14q32.13	2011-06-20	2007-07-11			ENSG00000133937		"""Homeoboxes / PRD class"""	4612	protein-coding gene	gene with protein product		138890				7916327	Standard	NM_173849		Approved		uc001ydu.3	P56915		ENST00000238558.3:c.534C>T	14.37:g.95235376G>A							p.L178L	NM_173849	NP_776248	P56915	GSC_HUMAN		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)	2	681	-		all_cancers(154;0.0896)|all_epithelial(191;0.219)	178			Homeobox.		Q86YR1	Silent	SNP	ENST00000238558.3	37	c.534C>T	CCDS9930.1																																																																																				0.667	GSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410746.1			7	8	0	0	0	0	7	8				
GSKIP	51527	broad.mit.edu	37	14	96848583	96848583	+	Splice_Site	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:96848583G>A	ENST00000556095.1	+	3	1811		c.e3-1		GSKIP_ENST00000555181.1_Splice_Site|RNU2-33P_ENST00000410344.1_RNA|GSKIP_ENST00000554182.1_Splice_Site|GSKIP_ENST00000438650.1_Splice_Site	NM_001271904.1	NP_001258833.1	Q9P0R6	GSKIP_HUMAN	GSK3B interacting protein							cytoplasm (GO:0005737)											TTTTTTTACAGAATGGAAACA	0.333																																						uc001yfj.3		NA																	0					0						c.e3-1		chromosome 14 open reading frame 129							37.0	38.0	37.0					14																	96848583		2203	4299	6502	SO:0001630	splice_region_variant	51527					cytoplasm	protein binding	g.chr14:96848583G>A	AF151044	CCDS32153.1	14q32.2	2012-09-25	2012-09-25	2012-09-25	ENSG00000100744	ENSG00000100744			20343	protein-coding gene	gene with protein product	"""GSK3beta interaction protein"""		"""chromosome 14 open reading frame 129"""	C14orf129		16981698, 21328310	Standard	NM_001271904		Approved		uc031qqf.1	Q9P0R6	OTTHUMG00000171420	ENST00000556095.1:c.-1-1G>A	14.37:g.96848583G>A						C14orf129_uc001yfl.2_Splice_Site		NM_016472	NP_057556	Q9P0R6	GSKIP_HUMAN		Epithelial(152;0.109)|COAD - Colon adenocarcinoma(157;0.205)	3	145	+		Melanoma(154;0.226)						B3KSZ0|Q9BST1|Q9NWK0	Splice_Site	SNP	ENST00000556095.1	37	c.0_splice	CCDS32153.1																																																																																				0.333	GSKIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413338.1	NM_016472	Intron	34	31	0	0	0	0	34	31				
BEGAIN	57596	broad.mit.edu	37	14	101004323	101004323	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:101004323C>T	ENST00000355173.2	-	7	1836	c.1765G>A	c.(1765-1767)Gga>Aga	p.G589R	BEGAIN_ENST00000443071.2_Missense_Mutation_p.G589R|CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000556751.1_Missense_Mutation_p.G525R	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	589						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				AGCAAGGTTCCGTAGAGCTGG	0.706																																					NSCLC(159;1889 2010 9965 27479 40101)	uc010txa.1		NA																	0					0						c.(1765-1767)GGA>AGA		brain-enriched guanylate kinase-associated							21.0	21.0	21.0					14																	101004323		2201	4296	6497	SO:0001583	missense	57596					cytoplasm|membrane	protein binding	g.chr14:101004323C>T	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"""brain-enriched guanylate kinase-associated homolog (rat)"""			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.1765G>A	14.37:g.101004323C>T	ENSP00000347301:p.Gly589Arg					BEGAIN_uc001yhp.2_Missense_Mutation_p.G525R|BEGAIN_uc001yhq.2_Missense_Mutation_p.G589R	p.G589R	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN			6	1911	-		Melanoma(154;0.212)	589					Q9NPU3|Q9P282	Missense_Mutation	SNP	ENST00000355173.2	37	c.1765G>A	CCDS9962.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551509	0.86127	.	.	ENSG00000183092	ENST00000355173;ENST00000556751;ENST00000443071	.	.	.	4.29	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81475	-0.0916	9	0.87932	D	0	.	17.0726	0.86578	0.0:1.0:0.0:0.0	.	589	Q9BUH8	BEGIN_HUMAN	R	589;525;589	.	ENSP00000347301:G589R	G	-	1	0	BEGAIN	100074076	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.423000	0.80229	2.081000	0.62600	0.462000	0.41574	GGA		0.706	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		13	22	0	0	0	0	13	22				
KLC1	3831	broad.mit.edu	37	14	104129088	104129088	+	Silent	SNP	C	C	T	rs369035894		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr14:104129088C>T	ENST00000348520.6	+	5	940	c.621C>T	c.(619-621)taC>taT	p.Y207Y	KLC1_ENST00000246489.7_Silent_p.Y207Y|KLC1_ENST00000557575.1_Silent_p.Y207Y|KLC1_ENST00000452929.2_Silent_p.Y207Y|KLC1_ENST00000334553.6_Silent_p.Y207Y|KLC1_ENST00000554280.1_Silent_p.Y207Y|KLC1_ENST00000553286.1_Silent_p.Y207Y|RP11-73M18.2_ENST00000472726.2_Silent_p.Y379Y|KLC1_ENST00000347839.6_Silent_p.Y207Y|KLC1_ENST00000555836.1_Silent_p.Y207Y|KLC1_ENST00000445352.4_Silent_p.Y207Y|KLC1_ENST00000380038.3_Silent_p.Y207Y|KLC1_ENST00000389744.4_Silent_p.Y207Y|KLC1_ENST00000557450.1_Silent_p.Y207Y	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	207					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				AGGGCGGCTACGAGATCCCCG	0.622																																						uc001yno.2		NA																	0					0						c.(619-621)TAC>TAT		kinesin light chain 1 isoform 2		C	,,	0,4388		0,0,2194	29.0	34.0	32.0		621,621,621	-1.7	1.0	14		32	1,8567		0,1,4283	no	coding-synonymous,coding-synonymous,coding-synonymous	KLC1	NM_001130107.1,NM_005552.4,NM_182923.3	,,	0,1,6477	TT,TC,CC		0.0117,0.0,0.0077	,,	207/619,207/561,207/574	104129088	1,12955	2194	4284	6478	SO:0001819	synonymous_variant	3831				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr14:104129088C>T	AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.621C>T	14.37:g.104129088C>T						KLC1_uc010tyd.1_Silent_p.Y366Y|KLC1_uc010tye.1_Silent_p.Y203Y|KLC1_uc001ynm.1_Silent_p.Y207Y|KLC1_uc001ynn.1_Silent_p.Y203Y|KLC1_uc010tyf.1_Silent_p.Y207Y	p.Y207Y	NM_182923	NP_891553	Q07866	KLC1_HUMAN			5	929	+		Melanoma(154;0.155)|all_epithelial(191;0.19)	207					A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Silent	SNP	ENST00000348520.6	37	c.621C>T	CCDS41996.1																																																																																				0.622	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	NM_005552		4	123	0	0	0	0	4	123				
CYFIP1	23191	broad.mit.edu	37	15	22993080	22993080	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:22993080G>A	ENST00000313077.7	+	26	3092	c.2967G>A	c.(2965-2967)ctG>ctA	p.L989L	CYFIP1_ENST00000435939.2_Silent_p.L558L|CYFIP1_ENST00000560848.1_Silent_p.L989L	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ACGCAGAGCTGAAGACGGTGT	0.647																																						uc001yus.2		NA																	0				ovary(4)|pancreas(3)|liver(1)|skin(1)	9						c.(2965-2967)CTG>CTA		cytoplasmic FMR1 interacting protein 1 isoform							124.0	111.0	115.0					15																	22993080		2203	4300	6503	SO:0001819	synonymous_variant	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22993080G>A	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.2967G>A	15.37:g.22993080G>A						CYFIP1_uc001yut.2_Silent_p.L989L|CYFIP1_uc010aya.1_Silent_p.L1017L|CYFIP1_uc001yuu.2_Silent_p.L558L|CYFIP1_uc001yuv.2_Silent_p.L183L	p.L989L	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	26	3071	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	989						Silent	SNP	ENST00000313077.7	37	c.2967G>A	CCDS10009.1																																																																																				0.647	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		50	126	0	0	0	0	50	126				
NPAP1	23742	broad.mit.edu	37	15	24924415	24924415	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:24924415A>G	ENST00000329468.2	+	1	3875	c.3401A>G	c.(3400-3402)tAc>tGc	p.Y1134C		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	1134					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											AGAAAATTCTACACTTCAAGC	0.483																																						uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(3400-3402)TAC>TGC		hypothetical protein LOC23742							124.0	109.0	114.0					15																	24924415		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24924415A>G	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.3401A>G	15.37:g.24924415A>G	ENSP00000333735:p.Tyr1134Cys						p.Y1134C	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	3875	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	1134						Missense_Mutation	SNP	ENST00000329468.2	37	c.3401A>G	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	11.42	1.634276	0.29068	.	.	ENSG00000185823	ENST00000329468	T	0.09445	2.98	1.88	-2.33	0.06724	.	.	.	.	.	T	0.08802	0.0218	N	0.22421	0.69	0.09310	N	1	D	0.65815	0.995	P	0.50049	0.629	T	0.18587	-1.0332	9	0.66056	D	0.02	.	3.6336	0.08141	0.3262:0.4517:0.0:0.2221	.	1134	Q9NZP6	CO002_HUMAN	C	1134	ENSP00000333735:Y1134C	ENSP00000333735:Y1134C	Y	+	2	0	C15orf2	22475508	0.000000	0.05858	0.000000	0.03702	0.226000	0.24999	-0.966000	0.03825	-0.608000	0.05731	0.260000	0.18958	TAC		0.483	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		46	138	0	0	0	0	46	138				
SNRPN	6638	broad.mit.edu	37	15	25223557	25223557	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:25223557C>T	ENST00000400100.1	+	13	1579	c.689C>T	c.(688-690)cCa>cTa	p.P230L	SNRPN_ENST00000577565.1_Missense_Mutation_p.P230L|SNRPN_ENST00000346403.6_Missense_Mutation_p.P230L|SNRPN_ENST00000444203.2_Missense_Mutation_p.P234L|SNHG14_ENST00000551631.2_RNA|SNRPN_ENST00000400098.1_Missense_Mutation_p.P230L|SNRPN_ENST00000554227.2_Missense_Mutation_p.P234L|SNRPN_ENST00000400097.1_Missense_Mutation_p.P230L|SNURF_ENST00000338094.6_3'UTR|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000390687.4_Missense_Mutation_p.P230L	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	230	Repeat-rich region.				response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TTTCCAGGTCCACCTCCCCCA	0.473									Prader-Willi syndrome																													uc001ywp.1		NA																	0				ovary(1)	1						c.(688-690)CCA>CTA		small nuclear ribonucleoprotein polypeptide N							283.0	272.0	276.0					15																	25223557		1922	4121	6043	SO:0001583	missense	6638	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	g.chr15:25223557C>T	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.689C>T	15.37:g.25223557C>T	ENSP00000382972:p.Pro230Leu					SNRPN_uc001ywq.1_Missense_Mutation_p.P230L|SNRPN_uc001ywr.1_Missense_Mutation_p.P230L|SNRPN_uc001yws.1_Missense_Mutation_p.P230L|SNRPN_uc001ywt.1_Missense_Mutation_p.P230L|SNRPN_uc001ywv.1_Missense_Mutation_p.P233L|SNRPN_uc001yww.1_Missense_Mutation_p.P230L|SNRPN_uc001ywx.1_Missense_Mutation_p.P230L|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	p.P230L	NM_022807	NP_073718	P63162	RSMN_HUMAN		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)	13	1579	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	230			Repeat-rich region.|		B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	ENST00000400100.1	37	c.689C>T	CCDS10017.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966109	0.53507	.	.	ENSG00000128739	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203	T;T;T;T;T;T	0.43294	0.96;0.96;0.96;0.95;0.96;0.95	4.24	4.24	0.50183	.	0.058825	0.64402	D	0.000001	T	0.57577	0.2063	L	0.60455	1.87	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.73708	0.981;0.981	T	0.57189	-0.7854	10	0.48119	T	0.1	-3.6202	12.3346	0.55060	0.0:1.0:0.0:0.0	.	234;230	B3KVR1;P63162	.;RSMN_HUMAN	L	230;230;230;234;230;234	ENSP00000382972:P230L;ENSP00000382970:P230L;ENSP00000382969:P230L;ENSP00000452342:P234L;ENSP00000375105:P230L;ENSP00000408767:P234L	ENSP00000375105:P230L	P	+	2	0	SNRPN	22774650	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.172000	0.65003	2.386000	0.81285	0.655000	0.94253	CCA		0.473	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		85	285	0	0	0	0	85	285				
LOC100288637	100288637	broad.mit.edu	37	15	30938316	30938316	+	lincRNA	SNP	G	G	A	rs112615235		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:30938316G>A	ENST00000602684.1	+	0	0																											TTCCTTGGCAGTGGATAAGTT	0.393																																						uc010azv.1		NA																	0					0						c.e11-1		Homo sapiens cDNA, FLJ17072.																																						89839				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:30938316G>A																													15.37:g.30938316G>A						ARHGAP11B_uc001zeu.2_Splice_Site				Q3KRB8	RHGBB_HUMAN		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)	11		+		all_lung(180;2.71e-09)|Breast(32;0.00116)							Splice_Site	SNP	ENST00000602684.1	37	c.1127_splice																																																																																					0.393	RP11-932O9.10-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000467507.1			3	48	0	0	0	0	3	48				
CHRM5	1133	broad.mit.edu	37	15	34356124	34356124	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:34356124C>G	ENST00000383263.5	+	3	1876	c.1206C>G	c.(1204-1206)atC>atG	p.I402M	CHRM5_ENST00000557872.1_Missense_Mutation_p.I402M	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	402					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	AGGTGAAAATCATGCCCTGCC	0.502																																						uc001zhk.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1204-1206)ATC>ATG		cholinergic receptor, muscarinic 5	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)						87.0	89.0	89.0					15																	34356124		2201	4298	6499	SO:0001583	missense	1133				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr15:34356124C>G		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1954	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 5"""	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.1206C>G	15.37:g.34356124C>G	ENSP00000372750:p.Ile402Met					CHRM5_uc001zhl.1_Missense_Mutation_p.I402M	p.I402M	NM_012125	NP_036257	P08912	ACM5_HUMAN		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	3	1876	+		all_lung(180;1.76e-08)	402			Cytoplasmic (By similarity).		Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	37	c.1206C>G	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581698	0.28180	.	.	ENSG00000184984	ENST00000383263	T	0.62232	0.04	5.64	4.73	0.59995	GPCR, rhodopsin-like superfamily (1);	0.361639	0.31370	N	0.007777	T	0.54515	0.1863	L	0.53249	1.67	0.47819	D	0.999525	B	0.31256	0.316	B	0.28553	0.091	T	0.55829	-0.8079	10	0.44086	T	0.13	-30.55	10.5561	0.45118	0.1402:0.7892:0.0:0.0706	.	402	P08912	ACM5_HUMAN	M	402	ENSP00000372750:I402M	ENSP00000372750:I402M	I	+	3	3	CHRM5	32143416	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.632000	0.46511	1.628000	0.50416	-0.145000	0.13849	ATC		0.502	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			3	135	0	0	0	0	3	135				
ZNF106	64397	broad.mit.edu	37	15	42742378	42742378	+	Missense_Mutation	SNP	C	C	T	rs373531335		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:42742378C>T	ENST00000263805.4	-	2	2349	c.2023G>A	c.(2023-2025)Gaa>Aaa	p.E675K	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	675					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TGTGCATCTTCTAGAGAGGTT	0.413																																						uc001zpw.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(2023-2025)GAA>AAA		zinc finger protein 106 homolog							131.0	135.0	134.0					15																	42742378		2203	4299	6502	SO:0001583	missense	64397					nucleolus	zinc ion binding	g.chr15:42742378C>T	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.2023G>A	15.37:g.42742378C>T	ENSP00000263805:p.Glu675Lys					ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.E458K|ZFP106_uc001zpy.1_Missense_Mutation_p.E698K	p.E675K	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN		GBM - Glioblastoma multiforme(94;8.6e-07)	2	2358	-		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)	675					B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.2023G>A	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146324	0.57044	.	.	ENSG00000103994	ENST00000263805	T	0.40225	1.04	5.14	5.14	0.70334	.	0.372969	0.27696	N	0.018238	T	0.54581	0.1867	L	0.48642	1.525	0.80722	D	1	D;P	0.59357	0.985;0.952	P;B	0.56612	0.802;0.439	T	0.55692	-0.8101	10	0.72032	D	0.01	-12.0136	19.1445	0.93459	0.0:1.0:0.0:0.0	.	458;675	B4DGC7;Q9H2Y7	.;ZF106_HUMAN	K	675	ENSP00000263805:E675K	ENSP00000263805:E675K	E	-	1	0	ZFP106	40529670	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.062000	0.64326	2.828000	0.97474	0.650000	0.86243	GAA		0.413	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		6	273	0	0	0	0	6	273				
TP53BP1	7158	broad.mit.edu	37	15	43699588	43699588	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:43699588G>A	ENST00000263801.3	-	28	6164	c.5912C>T	c.(5911-5913)tCt>tTt	p.S1971F	TP53BP1_ENST00000450115.2_Missense_Mutation_p.S1974F|TP53BP1_ENST00000382039.3_Missense_Mutation_p.S1926F|TP53BP1_ENST00000382044.4_Missense_Mutation_p.S1976F	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1971					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCTTTAGTGAGAAACATAATC	0.413								Other conserved DNA damage response genes																														uc001zrs.2		NA																	0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7						c.(5911-5913)TCT>TTT	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	tumor protein p53 binding protein 1 isoform 3							109.0	102.0	104.0					15																	43699588		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43699588G>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.5912C>T	15.37:g.43699588G>A	ENSP00000263801:p.Ser1971Phe					TP53BP1_uc010udp.1_Missense_Mutation_p.S1969F|TP53BP1_uc001zrq.3_Missense_Mutation_p.S1974F|TP53BP1_uc001zrr.3_Missense_Mutation_p.S1976F|TP53BP1_uc001zrp.2_Missense_Mutation_p.S388F	p.S1971F	NM_005657	NP_005648	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	28	6060	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1971					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.5912C>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414006	0.62511	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.04551	3.6;3.6;3.63;3.6	4.7	4.7	0.59300	BRCT (1);	0.156841	0.44285	D	0.000467	T	0.04815	0.0130	L	0.29908	0.895	0.37868	D	0.929969	B;P;B	0.34462	0.144;0.454;0.225	B;B;B	0.24394	0.024;0.053;0.053	T	0.42832	-0.9428	10	0.72032	D	0.01	-12.4663	17.1659	0.86816	0.0:0.0:1.0:0.0	.	1971;1976;1974	Q12888;Q12888-2;F8VY86	TP53B_HUMAN;.;.	F	1971;1976;1926;1974	ENSP00000263801:S1971F;ENSP00000371475:S1976F;ENSP00000371470:S1926F;ENSP00000393497:S1974F	ENSP00000263801:S1971F	S	-	2	0	TP53BP1	41486880	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.853000	0.75435	2.596000	0.87737	0.460000	0.39030	TCT		0.413	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			39	100	0	0	0	0	39	100				
MAP1A	4130	broad.mit.edu	37	15	43815427	43815427	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:43815427G>A	ENST00000300231.5	+	4	2206	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K	MAP1A_ENST00000399453.1_Missense_Mutation_p.E586K|MAP1A_ENST00000382031.1_Missense_Mutation_p.E824K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	586					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCTGGGACAAGAAGAACATGT	0.542																																						uc001zrt.2		NA																	0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(1756-1758)GAA>AAA		microtubule-associated protein 1A	Estramustine(DB01196)						38.0	39.0	38.0					15																	43815427		1939	4139	6078	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43815427G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.1756G>A	15.37:g.43815427G>A	ENSP00000300231:p.Glu586Lys						p.E586K	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	2223	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	586					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.1756G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	4.004	-0.001884	0.07819	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231;ENST00000442025	T;T;T	0.39787	1.06;1.06;1.06	4.88	2.99	0.34606	.	.	.	.	.	T	0.43743	0.1261	M	0.63428	1.95	0.24195	N	0.995537	D	0.53619	0.961	P	0.49597	0.616	T	0.21280	-1.0250	9	0.25751	T	0.34	-8.9383	5.9032	0.18978	0.0735:0.136:0.6496:0.1409	.	586	P78559	MAP1A_HUMAN	K	824;586;586;586	ENSP00000371462:E824K;ENSP00000382380:E586K;ENSP00000300231:E586K	ENSP00000300231:E586K	E	+	1	0	MAP1A	41602719	0.016000	0.18221	0.666000	0.29783	0.030000	0.12068	1.862000	0.39448	0.752000	0.32923	-0.136000	0.14681	GAA		0.542	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		16	33	0	0	0	0	16	33				
PDIA3	2923	broad.mit.edu	37	15	44058971	44058971	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:44058971C>G	ENST00000300289.5	+	8	1039	c.891C>G	c.(889-891)ctC>ctG	p.L297L	PDIA3_ENST00000538521.1_Silent_p.L277L	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	297					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		GGCACAAACTCAACTTTGCTG	0.458																																						uc001zsu.2		NA																	0				ovary(1)|skin(1)	2						c.(889-891)CTC>CTG		protein disulfide-isomerase A3 precursor							86.0	76.0	79.0					15																	44058971		2198	4295	6493	SO:0001819	synonymous_variant	2923				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr15:44058971C>G		CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.891C>G	15.37:g.44058971C>G						PDIA3_uc010bdp.2_Silent_p.L277L|PDIA3_uc010ued.1_Silent_p.L71L	p.L297L	NM_005313	NP_005304	P30101	PDIA3_HUMAN		GBM - Glioblastoma multiforme(94;9.48e-07)	8	1039	+		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	297					Q13453|Q14255|Q8IYF8|Q9UMU7	Silent	SNP	ENST00000300289.5	37	c.891C>G	CCDS10101.1																																																																																				0.458	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	NM_005313		19	47	0	0	0	0	19	47				
SPG11	80208	broad.mit.edu	37	15	44878014	44878014	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:44878014C>G	ENST00000261866.7	-	29	4957	c.4941G>C	c.(4939-4941)caG>caC	p.Q1647H	SPG11_ENST00000558319.1_Missense_Mutation_p.Q1647H|SPG11_ENST00000535302.2_Missense_Mutation_p.Q1647H|SPG11_ENST00000427534.2_Missense_Mutation_p.Q1647H|SPG11_ENST00000558253.1_5'UTR	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1647					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)		CCTTCAAAATCTGGCAAAGGA	0.358																																						uc001ztx.2		NA																	0				ovary(4)|skin(1)	5						c.(4939-4941)CAG>CAC		spatacsin isoform 1							121.0	121.0	121.0					15																	44878014		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44878014C>G		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.4941G>C	15.37:g.44878014C>G	ENSP00000261866:p.Gln1647His					SPG11_uc010bdw.2_5'Flank|SPG11_uc010ueh.1_Missense_Mutation_p.Q1647H|SPG11_uc010uei.1_Missense_Mutation_p.Q1647H|SPG11_uc001zty.1_Missense_Mutation_p.Q376H	p.Q1647H	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)	29	4972	-		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)	1647			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.4941G>C	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	c	11.14	1.550720	0.27739	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.78364	-1.17;-0.91;-0.91	5.5	-11.0	0.00169	.	0.441905	0.24220	N	0.040456	T	0.67822	0.2934	M	0.62723	1.935	0.28124	N	0.930474	B;B;B	0.21905	0.02;0.062;0.02	B;B;B	0.21708	0.036;0.035;0.036	T	0.44314	-0.9336	10	0.72032	D	0.01	.	14.8897	0.70600	0.0795:0.7439:0.0803:0.0964	.	1647;1647;1647	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	H	1647	ENSP00000261866:Q1647H;ENSP00000445278:Q1647H;ENSP00000396110:Q1647H	ENSP00000261866:Q1647H	Q	-	3	2	SPG11	42665306	0.000000	0.05858	0.065000	0.19835	0.686000	0.39977	-2.345000	0.01097	-2.231000	0.00718	-0.348000	0.07805	CAG		0.358	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			38	157	0	0	0	0	38	157				
DUOX1	53905	broad.mit.edu	37	15	45426095	45426095	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:45426095G>A	ENST00000321429.4	+	4	499	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	DUOX1_ENST00000389037.3_Missense_Mutation_p.R31Q	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	31	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GAGGTGCAGCGATTTGATGGG	0.592																																						uc001zus.1		NA																	0				ovary(5)|skin(2)|breast(1)	8						c.(91-93)CGA>CAA		dual oxidase 1 precursor							153.0	133.0	140.0					15																	45426095		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45426095G>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.92G>A	15.37:g.45426095G>A	ENSP00000317997:p.Arg31Gln					DUOX1_uc001zut.1_Missense_Mutation_p.R31Q|DUOX1_uc010bee.1_5'UTR	p.R31Q	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	4	438	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	31			Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential).		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.92G>A	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	32	5.188148	0.94923	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.73363	-0.74;-0.74	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.87196	0.6117	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88600	0.3149	10	0.59425	D	0.04	-7.7121	15.7702	0.78162	0.0:0.0:1.0:0.0	.	31	Q9NRD9	DUOX1_HUMAN	Q	31	ENSP00000317997:R31Q;ENSP00000373689:R31Q	ENSP00000317997:R31Q	R	+	2	0	DUOX1	43213387	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.805000	0.75191	2.572000	0.86782	0.655000	0.94253	CGA		0.592	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		38	115	0	0	0	0	38	115				
ONECUT1	3175	broad.mit.edu	37	15	53081966	53081966	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:53081966G>C	ENST00000305901.5	-	1	243	c.116C>G	c.(115-117)gCg>gGg	p.A39G	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	39					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GCCGCGGTGCGCCACGGAGCT	0.756																																						uc002aci.1		NA																	0					0						c.(115-117)GCG>GGG		one cut homeobox 1							3.0	4.0	4.0					15																	53081966		1722	3498	5220	SO:0001583	missense	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53081966G>C	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.116C>G	15.37:g.53081966G>C	ENSP00000302630:p.Ala39Gly						p.A39G	NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	244	-			39					B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	ENST00000305901.5	37	c.116C>G	CCDS10150.1	.	.	.	.	.	.	.	.	.	.	G	9.717	1.158508	0.21454	.	.	ENSG00000169856	ENST00000305901	T	0.49720	0.77	3.89	2.94	0.34122	.	0.252557	0.30320	N	0.009899	T	0.27169	0.0666	N	0.08118	0	0.80722	D	1	B	0.16396	0.017	B	0.17979	0.02	T	0.04855	-1.0922	10	0.38643	T	0.18	-1.9043	11.7657	0.51928	0.0:0.1877:0.8122:0.0	.	39	Q9UBC0	HNF6_HUMAN	G	39	ENSP00000302630:A39G	ENSP00000302630:A39G	A	-	2	0	ONECUT1	50869258	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.427000	0.52785	0.794000	0.33899	0.436000	0.28706	GCG		0.756	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			4	4	0	0	0	0	4	4				
CCPG1	9236	broad.mit.edu	37	15	55653003	55653003	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:55653003G>A	ENST00000310958.6	-	8	1266	c.968C>T	c.(967-969)tCa>tTa	p.S323L	CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000569205.1_Missense_Mutation_p.S323L|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Missense_Mutation_p.S323L	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	323					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TTCCTGTAATGAGGATAAGGC	0.343																																						uc002acv.1		NA																	0				ovary(1)	1						c.(967-969)TCA>TTA		cell cycle progression 1 isoform 2							108.0	99.0	102.0					15																	55653003		1822	4078	5900	SO:0001583	missense	9236				cell cycle	integral to membrane		g.chr15:55653003G>A	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.968C>T	15.37:g.55653003G>A	ENSP00000311656:p.Ser323Leu					CCPG1_uc002acy.2_Missense_Mutation_p.S323L|CCPG1_uc002acu.1_Missense_Mutation_p.S179L|CCPG1_uc002acw.1_Missense_Mutation_p.S48L|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Missense_Mutation_p.S323L|CCPG1_uc002acz.1_Missense_Mutation_p.S323L	p.S323L	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	8	1133	-			323			Potential.|Lumenal (Potential).		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	ENST00000310958.6	37	c.968C>T	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	G	6.504	0.461244	0.12342	.	.	ENSG00000256061	ENST00000310958;ENST00000442196	T;T	0.36157	1.27;1.27	5.72	1.79	0.24919	.	0.489451	0.24456	N	0.038366	T	0.28366	0.0701	L	0.39397	1.21	0.23972	N	0.996308	B;B;B;B	0.23490	0.086;0.033;0.086;0.086	B;B;B;B	0.25291	0.059;0.041;0.059;0.059	T	0.20240	-1.0281	10	0.49607	T	0.09	.	9.9517	0.41642	0.2739:0.0:0.7261:0.0	.	323;323;323;179	A8K9T0;Q9ULG6-4;Q9ULG6;Q9ULG6-2	.;.;CCPG1_HUMAN;.	L	323	ENSP00000311656:S323L;ENSP00000403400:S323L	ENSP00000311656:S323L	S	-	2	0	DYX1C1	53440295	0.939000	0.31865	0.040000	0.18447	0.217000	0.24651	1.385000	0.34408	0.147000	0.19030	-0.145000	0.13849	TCA		0.343	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		34	125	0	0	0	0	34	125				
AQP9	366	broad.mit.edu	37	15	58465363	58465363	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:58465363G>C	ENST00000219919.4	+	3	705	c.335G>C	c.(334-336)gGa>gCa	p.G112A	ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.G47A|AQP9_ENST00000536493.1_Missense_Mutation_p.G112A	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	112					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		CAGTTCTTGGGAGCCTTTGTG	0.473																																						uc002aez.2		NA																	0				ovary(1)	1						c.(334-336)GGA>GCA		aquaporin 9							164.0	167.0	166.0					15																	58465363		2192	4292	6484	SO:0001583	missense	366				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	g.chr15:58465363G>C	AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"""Ion channels / Aquaporins"""	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.335G>C	15.37:g.58465363G>C	ENSP00000219919:p.Gly112Ala					ALDH1A2_uc010ugw.1_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.G47A	p.G112A	NM_020980	NP_066190	O43315	AQP9_HUMAN		GBM - Glioblastoma multiforme(80;0.16)	3	692	+			112			Helical; (Potential).		Q9NP32	Missense_Mutation	SNP	ENST00000219919.4	37	c.335G>C	CCDS10165.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722194	0.89298	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	T;T	0.59224	0.28;0.28	5.33	5.33	0.75918	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.84042	0.5385	H	0.96430	3.82	0.80722	D	1	D	0.64830	0.994	D	0.70016	0.967	D	0.88605	0.3152	10	0.72032	D	0.01	.	19.2123	0.93760	0.0:0.0:1.0:0.0	.	112	O43315	AQP9_HUMAN	A	112	ENSP00000219919:G112A;ENSP00000441390:G112A	ENSP00000219919:G112A	G	+	2	0	AQP9	56252655	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.328000	0.96403	2.771000	0.95319	0.561000	0.74099	GGA		0.473	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980		74	271	0	0	0	0	74	271				
CILP	8483	broad.mit.edu	37	15	65489713	65489713	+	Missense_Mutation	SNP	G	G	A	rs369696446		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:65489713G>A	ENST00000261883.4	-	9	3077	c.2911C>T	c.(2911-2913)Cgc>Tgc	p.R971C		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	971					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CCCATGTTGCGGGATCGCACA	0.562																																						uc002aon.2		NA																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(2911-2913)CGC>TGC		cartilage intermediate layer protein		G	CYS/ARG	1,4403	2.1+/-5.4	0,1,2201	94.0	86.0	89.0		2911	4.7	0.5	15		89	0,8598		0,0,4299	no	missense	CILP	NM_003613.3	180	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	971/1185	65489713	1,13001	2202	4299	6501	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65489713G>A	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.2911C>T	15.37:g.65489713G>A	ENSP00000261883:p.Arg971Cys						p.R971C	NM_003613	NP_003604	O75339	CILP1_HUMAN			9	3092	-			971					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.2911C>T	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702442	0.48307	2.27E-4	0.0	ENSG00000138615	ENST00000261883	T	0.11930	2.73	5.63	4.69	0.59074	.	0.053759	0.64402	D	0.000001	T	0.32882	0.0844	M	0.68952	2.095	0.58432	D	0.999999	D	0.89917	1.0	D	0.66602	0.945	T	0.05989	-1.0852	10	0.87932	D	0	-20.1205	12.5845	0.56410	0.0:0.0:0.6979:0.3021	.	971	O75339	CILP1_HUMAN	C	971	ENSP00000261883:R971C	ENSP00000261883:R971C	R	-	1	0	CILP	63276766	1.000000	0.71417	0.465000	0.27155	0.983000	0.72400	4.580000	0.60942	1.326000	0.45319	0.655000	0.94253	CGC		0.562	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		31	122	0	0	0	0	31	122				
CILP	8483	broad.mit.edu	37	15	65499133	65499133	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:65499133G>A	ENST00000261883.4	-	4	577	c.411C>T	c.(409-411)ttC>ttT	p.F137F		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	137					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GTGGGCAGAGGAAGCGTACGG	0.627																																						uc002aon.2		NA																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(409-411)TTC>TTT		cartilage intermediate layer protein							74.0	80.0	78.0					15																	65499133		2201	4299	6500	SO:0001819	synonymous_variant	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65499133G>A	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.411C>T	15.37:g.65499133G>A							p.F137F	NM_003613	NP_003604	O75339	CILP1_HUMAN			4	592	-			137					B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	ENST00000261883.4	37	c.411C>T	CCDS10203.1																																																																																				0.627	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		67	160	0	0	0	0	67	160				
THSD4	79875	broad.mit.edu	37	15	71535271	71535271	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:71535271G>C	ENST00000355327.3	+	5	882	c.748G>C	c.(748-750)Gat>Cat	p.D250H	THSD4_ENST00000261862.6_Missense_Mutation_p.D250H			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	250	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTTGACCCATGATCAAGGCTA	0.582																																						uc002atb.1		NA																	0				ovary(2)	2						c.(748-750)GAT>CAT		thrombospondin, type I, domain containing 4							81.0	82.0	82.0					15																	71535271		1963	4163	6126	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:71535271G>C	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.748G>C	15.37:g.71535271G>C	ENSP00000347484:p.Asp250His					THSD4_uc002atd.1_5'UTR	p.D250H	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN			4	827	+			250			TSP type-1 1.		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.748G>C	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	G	10.67	1.415065	0.25552	.	.	ENSG00000187720	ENST00000355327;ENST00000261862	T;T	0.61742	0.08;0.08	5.63	4.72	0.59763	.	0.741590	0.12020	N	0.507052	T	0.51381	0.1671	L	0.29908	0.895	0.24123	N	0.995799	D	0.58620	0.983	P	0.50231	0.635	T	0.26849	-1.0091	10	0.13853	T	0.58	.	10.6187	0.45467	0.0889:0.0:0.9111:0.0	.	250	Q6ZMP0	THSD4_HUMAN	H	250	ENSP00000347484:D250H;ENSP00000261862:D250H	ENSP00000261862:D250H	D	+	1	0	THSD4	69322325	0.104000	0.21937	0.777000	0.31699	0.278000	0.26855	1.920000	0.40025	1.377000	0.46286	0.563000	0.77884	GAT		0.582	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		27	127	0	0	0	0	27	127				
MYO9A	4649	broad.mit.edu	37	15	72170385	72170385	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:72170385G>A	ENST00000356056.5	-	31	6399	c.5927C>T	c.(5926-5928)aCa>aTa	p.T1976I	MYO9A_ENST00000424560.1_Missense_Mutation_p.T2047I|MYO9A_ENST00000444904.1_Missense_Mutation_p.T1957I|MYO9A_ENST00000564571.1_Missense_Mutation_p.T1976I	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1976	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATTTACCTTTGTGGCTGTGCA	0.308																																						uc002atl.3		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(5926-5928)ACA>ATA		myosin IXA							54.0	56.0	55.0					15																	72170385		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72170385G>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.5927C>T	15.37:g.72170385G>A	ENSP00000348349:p.Thr1976Ile					MYO9A_uc002atk.2_Missense_Mutation_p.T771I|MYO9A_uc002atm.1_Missense_Mutation_p.T772I	p.T1976I	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			31	6400	-			1976			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.5927C>T	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	8.206	0.799302	0.16397	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	T;T;T	0.13778	2.56;2.56;2.56	5.21	4.29	0.51040	.	.	.	.	.	T	0.11410	0.0278	L	0.39898	1.24	0.09310	N	0.999999	B;B	0.27853	0.191;0.121	B;B	0.26310	0.068;0.031	T	0.23404	-1.0189	9	0.33141	T	0.24	.	7.1857	0.25799	0.1484:0.2557:0.5959:0.0	.	2047;1976	B2RTY4-4;B2RTY4	.;MYO9A_HUMAN	I	1976;2047;1957	ENSP00000348349:T1976I;ENSP00000399162:T2047I;ENSP00000398250:T1957I	ENSP00000348349:T1976I	T	-	2	0	MYO9A	69957439	0.985000	0.35326	0.992000	0.48379	0.605000	0.37080	3.292000	0.51772	1.301000	0.44836	0.591000	0.81541	ACA		0.308	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		24	67	0	0	0	0	24	67				
CELF6	60677	broad.mit.edu	37	15	72582346	72582346	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:72582346C>T	ENST00000569547.1	-	5	608	c.537G>A	c.(535-537)gtG>gtA	p.V179V	CELF6_ENST00000287202.5_Silent_p.V179V|RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000567083.1_Silent_p.V179V|CELF6_ENST00000569311.1_5'UTR|CELF6_ENST00000539635.1_Silent_p.V40V|CELF6_ENST00000543764.2_Silent_p.V64V|CELF6_ENST00000395258.2_Silent_p.V66V			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	179	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						TCCCGAACTTCACAAAGGCAC	0.657																																						uc002auh.2		NA																	0				large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(535-537)GTG>GTA		bruno-like 6, RNA binding protein							22.0	25.0	24.0					15																	72582346		2197	4296	6493	SO:0001819	synonymous_variant	60677				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr15:72582346C>T	AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"""RNA binding motif (RRM) containing"""	14059	protein-coding gene	gene with protein product		612681	"""Bruno (Drosophila) -like 6, RNA binding protein"", ""bruno-like 6, RNA binding protein (Drosophila)"""	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.537G>A	15.37:g.72582346C>T						uc002aug.2_Intron|CELF6_uc002auk.3_Intron|CELF6_uc010biv.1_RNA|CELF6_uc010biw.2_Silent_p.V66V|CELF6_uc010ukl.1_Silent_p.V64V|CELF6_uc010ukm.1_Silent_p.V179V|CELF6_uc002aui.2_Silent_p.V285V|CELF6_uc002auj.2_Silent_p.V66V	p.V179V	NM_052840	NP_443072	Q96J87	CELF6_HUMAN			5	847	-			179			RRM 2.		B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Silent	SNP	ENST00000569547.1	37	c.537G>A	CCDS10242.1																																																																																				0.657	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1	NM_052840		5	17	0	0	0	0	5	17				
MPI	4351	broad.mit.edu	37	15	75189514	75189514	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:75189514C>G	ENST00000352410.4	+	7	1074	c.1007C>G	c.(1006-1008)tCa>tGa	p.S336*	MPI_ENST00000563786.1_Nonsense_Mutation_p.S316*|MPI_ENST00000535694.1_Nonsense_Mutation_p.S286*|MPI_ENST00000566377.1_Intron|CTD-2235H24.2_ENST00000564692.1_RNA|MPI_ENST00000323744.6_Nonsense_Mutation_p.S275*			P34949	MPI_HUMAN	mannose phosphate isomerase	336					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CCCTACCTCTCAATCTATGAC	0.517																																						uc002azc.1		NA																	0				ovary(2)	2						c.(1006-1008)TCA>TGA		mannose-6- phosphate isomerase							126.0	116.0	119.0					15																	75189514		2197	4295	6492	SO:0001587	stop_gained	4351				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding	g.chr15:75189514C>G		CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"""mannose-6-phosphate isomerase"""	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.1007C>G	15.37:g.75189514C>G	ENSP00000318318:p.Ser336*					MPI_uc002azd.1_Intron|MPI_uc010ulx.1_Nonsense_Mutation_p.S286*|MPI_uc002aze.1_Nonsense_Mutation_p.S275*	p.S336*	NM_002435	NP_002426	P34949	MPI_HUMAN			7	1012	+			336					A8K8K9|Q96AB0	Nonsense_Mutation	SNP	ENST00000352410.4	37	c.1007C>G	CCDS10272.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995839	0.74703	.	.	ENSG00000178802	ENST00000352410;ENST00000535694;ENST00000323744	.	.	.	5.11	-0.185	0.13276	.	0.629439	0.18132	N	0.150720	.	.	.	.	.	.	0.35753	D	0.819575	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	0.3246	0.00309	0.2737:0.2468:0.1341:0.3454	.	.	.	.	X	336;286;275	.	ENSP00000318192:S275X	S	+	2	0	MPI	72976567	0.005000	0.15991	0.934000	0.37439	0.882000	0.50991	0.036000	0.13819	-0.050000	0.13356	0.306000	0.20318	TCA		0.517	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4			64	116	0	0	0	0	64	116				
SIN3A	25942	broad.mit.edu	37	15	75668138	75668138	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:75668138C>T	ENST00000394947.3	-	20	3773	c.3459G>A	c.(3457-3459)aaG>aaA	p.K1153K	SIN3A_ENST00000394949.4_Silent_p.K1153K|SIN3A_ENST00000360439.4_Silent_p.K1153K	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CCATGGTCTTCTTGCTGTTTC	0.468																																						uc002bai.2		NA																	0				skin(3)|ovary(1)|lung(1)	5						c.(3457-3459)AAG>AAA		transcriptional co-repressor Sin3A							262.0	223.0	236.0					15																	75668138		2197	4294	6491	SO:0001819	synonymous_variant	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75668138C>T	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.3459G>A	15.37:g.75668138C>T						SIN3A_uc002baj.2_Silent_p.K1153K|SIN3A_uc010uml.1_Silent_p.K1153K	p.K1153K	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN			20	3718	-			1153						Silent	SNP	ENST00000394947.3	37	c.3459G>A	CCDS10279.1																																																																																				0.468	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		65	222	0	0	0	0	65	222				
MESDC1	59274	broad.mit.edu	37	15	81295691	81295691	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:81295691C>G	ENST00000267984.2	+	1	2397	c.1079C>G	c.(1078-1080)tCt>tGt	p.S360C		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	360										endometrium(1)|lung(2)	3						AATTCCAATTCTGTGAATTAG	0.517																																						uc002bfz.2		NA																	0					0						c.(1078-1080)TCT>TGT		mesoderm development candidate 1							15.0	19.0	18.0					15																	81295691		1990	4165	6155	SO:0001583	missense	59274							g.chr15:81295691C>G	AY007810	CCDS10316.1	15q13	2008-07-18			ENSG00000140406	ENSG00000140406			13519	protein-coding gene	gene with protein product		615466				11247670	Standard	NM_022566		Approved	MGC99595	uc002bfz.3	Q9H1K6	OTTHUMG00000144185	ENST00000267984.2:c.1079C>G	15.37:g.81295691C>G	ENSP00000267984:p.Ser360Cys						p.S360C	NM_022566	NP_072088	Q9H1K6	MESD1_HUMAN			1	2397	+			360						Missense_Mutation	SNP	ENST00000267984.2	37	c.1079C>G	CCDS10316.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041587	0.75732	.	.	ENSG00000140406	ENST00000267984	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.67924	0.2945	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.72040	-0.4410	9	0.87932	D	0	-3.4618	18.7574	0.91837	0.0:1.0:0.0:0.0	.	360	Q9H1K6	MESD1_HUMAN	C	360	.	ENSP00000267984:S360C	S	+	2	0	MESDC1	79082746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.166000	0.77553	2.425000	0.82216	0.655000	0.94253	TCT		0.517	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291390.1	NM_022566		3	19	0	0	0	0	3	19				
ALPK3	57538	broad.mit.edu	37	15	85360149	85360149	+	Silent	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:85360149G>T	ENST00000258888.5	+	1	239	c.72G>T	c.(70-72)cgG>cgT	p.R24R		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	24					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTCAGTCACGGCTGGTGCCAG	0.662																																						uc002ble.2		NA																	0				stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(70-72)CGG>CGT		alpha-kinase 3							71.0	62.0	65.0					15																	85360149		2203	4299	6502	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85360149G>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.72G>T	15.37:g.85360149G>T							p.R24R	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		1	239	+			24					Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.72G>T	CCDS10333.1																																																																																				0.662	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		6	22	1	0	8.13e-05	8.34e-05	6	22				
UNC45A	55898	broad.mit.edu	37	15	91488219	91488219	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:91488219C>T	ENST00000418476.2	+	9	1165	c.1125C>T	c.(1123-1125)ctC>ctT	p.L375L	UNC45A_ENST00000394275.2_Silent_p.L360L	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	375					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CTATTCTCCTCAGCAAGCTCT	0.512																																						uc002bqg.2		NA																	0				ovary(2)	2						c.(1123-1125)CTC>CTT		smooth muscle cell associated protein-1 isoform							78.0	80.0	79.0					15																	91488219		2198	4298	6496	SO:0001819	synonymous_variant	55898				cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	g.chr15:91488219C>T		CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.1125C>T	15.37:g.91488219C>T						UNC45A_uc002bqd.2_Silent_p.L360L	p.L375L	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Lung(145;0.189)		9	1465	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		375					A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Silent	SNP	ENST00000418476.2	37	c.1125C>T	CCDS10367.1																																																																																				0.512	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2	NM_018671		26	81	0	0	0	0	26	81				
TARSL2	123283	broad.mit.edu	37	15	102264441	102264441	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr15:102264441G>C	ENST00000335968.3	-	1	366	c.150C>G	c.(148-150)ctC>ctG	p.L50L		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	50					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCTCCCGCGTGAGGCACGGCC	0.736																																						uc002bxm.2		NA																	0				ovary(2)	2						c.(148-150)CTC>CTG		threonyl-tRNA synthetase-like 2							4.0	4.0	4.0					15																	102264441		1777	3656	5433	SO:0001819	synonymous_variant	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102264441G>C	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.150C>G	15.37:g.102264441G>C						TARSL2_uc010usi.1_RNA	p.L50L	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		1	205	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		50					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Silent	SNP	ENST00000335968.3	37	c.150C>G	CCDS10394.1																																																																																				0.736	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334		6	10	0	0	0	0	6	10				
WFIKKN1	117166	broad.mit.edu	37	16	682690	682690	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:682690G>A	ENST00000319070.2	+	2	602	c.280G>A	c.(280-282)Gag>Aag	p.E94K		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	94					muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				GGCCTCCTGCGAGGGCTTTGT	0.682																																						uc002cht.1		NA																	0					0						c.(280-282)GAG>AAG		WAP, follistatin/kazal, immunoglobulin, kunitz							21.0	22.0	22.0					16																	682690		2170	4290	6460	SO:0001583	missense	117166					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr16:682690G>A	AK075356	CCDS10414.1	16p13	2013-01-21			ENSG00000127578	ENSG00000127578		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30912	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20A"""	608021	"""chromosome 16 open reading frame 12"""	C16orf12		11274388, 11928817	Standard	NM_053284		Approved	RJD2, WFIKKN, WFDC20A	uc002cht.1	Q96NZ8	OTTHUMG00000090359	ENST00000319070.2:c.280G>A	16.37:g.682690G>A	ENSP00000324763:p.Glu94Lys					WFIKKN1_uc002chs.1_3'UTR	p.E94K	NM_053284	NP_444514	Q96NZ8	WFKN1_HUMAN			2	522	+		Hepatocellular(780;0.00335)	94					Q7LDW0|Q8NBQ1|Q96S20	Missense_Mutation	SNP	ENST00000319070.2	37	c.280G>A	CCDS10414.1	.	.	.	.	.	.	.	.	.	.	g	12.45	1.940923	0.34283	.	.	ENSG00000127578	ENST00000319070	T	0.68624	-0.34	4.4	3.45	0.39498	.	0.178224	0.48286	N	0.000182	T	0.58991	0.2161	M	0.62723	1.935	0.31430	N	0.673254	B	0.16802	0.019	B	0.09377	0.004	T	0.60172	-0.7315	10	0.39692	T	0.17	.	7.8427	0.29408	0.1913:0.0:0.8087:0.0	.	94	Q96NZ8	WFKN1_HUMAN	K	94	ENSP00000324763:E94K	ENSP00000324763:E94K	E	+	1	0	WFIKKN1	622691	1.000000	0.71417	0.597000	0.28824	0.531000	0.34715	5.299000	0.65716	1.089000	0.41292	0.486000	0.48141	GAG		0.682	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206731.2	NM_053284		5	14	0	0	0	0	5	14				
CACNA1H	8912	broad.mit.edu	37	16	1261954	1261954	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:1261954G>C	ENST00000348261.5	+	25	4823	c.4575G>C	c.(4573-4575)caG>caC	p.Q1525H	CACNA1H_ENST00000358590.4_Missense_Mutation_p.Q1525H|CACNA1H_ENST00000565831.1_Missense_Mutation_p.Q1525H	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1525					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	AGCCTGTGCAGAACCACAACC	0.652																																						uc002cks.2		NA																	0				breast(2)	2						c.(4573-4575)CAG>CAC		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Mibefradil(DB01388)						232.0	240.0	237.0					16																	1261954		2152	4238	6390	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1261954G>C	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.4575G>C	16.37:g.1261954G>C	ENSP00000334198:p.Gln1525His					CACNA1H_uc002ckt.2_Missense_Mutation_p.Q1525H|CACNA1H_uc002cku.2_Missense_Mutation_p.Q231H|CACNA1H_uc010brj.2_Missense_Mutation_p.Q231H|CACNA1H_uc002ckv.2_Missense_Mutation_p.Q231H	p.Q1525H	NM_021098	NP_066921	O95180	CAC1H_HUMAN			25	4823	+		Hepatocellular(780;0.00369)	1525			Extracellular (Potential).|III.		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.4575G>C	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.748217	0.30955	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98455	-4.94;-4.94	4.15	3.19	0.36642	Ion transport (1);	0.346948	0.30437	N	0.009636	D	0.95497	0.8537	N	0.16098	0.37	0.32814	D	0.501788	P;P;B;P;P	0.50943	0.921;0.9;0.043;0.94;0.913	P;P;B;P;P	0.53266	0.69;0.722;0.044;0.601;0.722	D	0.94852	0.8014	10	0.44086	T	0.13	.	6.5678	0.22521	0.1127:0.2691:0.6182:0.0	.	266;266;266;1525;1525	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	H	1525	ENSP00000334198:Q1525H;ENSP00000351401:Q1525H	ENSP00000334198:Q1525H	Q	+	3	2	CACNA1H	1201955	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	1.095000	0.30964	1.085000	0.41206	0.313000	0.20887	CAG		0.652	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		41	111	0	0	0	0	41	111				
TRAF7	84231	broad.mit.edu	37	16	2222339	2222339	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:2222339G>A	ENST00000326181.6	+	8	755	c.623G>A	c.(622-624)cGa>cAa	p.R208Q		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	208					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						GTGGACCCCCGAGGGTGCCCC	0.687																																						uc002cow.2		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.(622-624)CGA>CAA		TNF receptor-associated factor 7							24.0	27.0	26.0					16																	2222339		2194	4297	6491	SO:0001583	missense	84231				activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:2222339G>A	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.623G>A	16.37:g.2222339G>A	ENSP00000318944:p.Arg208Gln						p.R208Q	NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN			8	722	+			208					Q9H073	Missense_Mutation	SNP	ENST00000326181.6	37	c.623G>A	CCDS10461.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303883	0.40795	.	.	ENSG00000131653	ENST00000326181	T	0.27256	1.68	4.56	4.56	0.56223	TRAF-like (1);Seven In Absentia Homolog-type (1);	0.211314	0.41097	D	0.000949	T	0.20007	0.0481	L	0.36672	1.1	0.35599	D	0.807705	B	0.25105	0.118	B	0.16289	0.015	T	0.14117	-1.0484	10	0.13853	T	0.58	-5.0612	16.4848	0.84181	0.0:0.0:1.0:0.0	.	208	Q6Q0C0	TRAF7_HUMAN	Q	208	ENSP00000318944:R208Q	ENSP00000318944:R208Q	R	+	2	0	TRAF7	2162340	1.000000	0.71417	0.017000	0.16124	0.992000	0.81027	3.685000	0.54678	2.369000	0.80426	0.561000	0.74099	CGA		0.687	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	NM_032271		9	34	0	0	0	0	9	34				
CASKIN1	57524	broad.mit.edu	37	16	2239055	2239055	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:2239055G>T	ENST00000343516.6	-	6	682	c.590C>A	c.(589-591)gCt>gAt	p.A197D		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	197					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GCCGTTTTTAGCTGCGAGGTG	0.657																																						uc010bsg.1		NA																	0				skin(2)	2						c.(589-591)GCT>GAT		CASK interacting protein 1							78.0	86.0	83.0					16																	2239055		2085	4210	6295	SO:0001583	missense	57524				signal transduction	cytoplasm		g.chr16:2239055G>T	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.590C>A	16.37:g.2239055G>T	ENSP00000345436:p.Ala197Asp						p.A197D	NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN			6	622	-			197			ANK 5.		Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.590C>A	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193324	0.78902	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.72615	-0.67	3.46	3.46	0.39613	Ankyrin repeat-containing domain (4);	.	.	.	.	D	0.87136	0.6102	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90648	0.4580	9	0.87932	D	0	-19.8373	14.0324	0.64624	0.0:0.0:1.0:0.0	.	197	Q8WXD9	CSKI1_HUMAN	D	197;26	ENSP00000345436:A197D	ENSP00000345436:A197D	A	-	2	0	CASKIN1	2179056	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	9.349000	0.97066	1.954000	0.56735	0.561000	0.74099	GCT		0.657	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		17	79	1	0	1.03e-11	1.08e-11	17	79				
ABCA3	21	broad.mit.edu	37	16	2339481	2339481	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:2339481C>A	ENST00000301732.5	-	20	3354	c.2654G>T	c.(2653-2655)gGa>gTa	p.G885V	ABCA3_ENST00000382381.3_Missense_Mutation_p.G827V	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	885					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)	GATGAGGGCTCCAATGCCGTC	0.682																																						uc002cpy.1		NA																	0				breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16						c.(2653-2655)GGA>GTA		ATP-binding cassette, sub-family A member 3							31.0	29.0	30.0					16																	2339481		2195	4299	6494	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2339481C>A	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.2654G>T	16.37:g.2339481C>A	ENSP00000301732:p.Gly885Val					ABCA3_uc010bsk.1_Missense_Mutation_p.G827V|ABCA3_uc010bsl.1_Missense_Mutation_p.G885V	p.G885V	NM_001089	NP_001080	Q99758	ABCA3_HUMAN			20	3366	-		Ovarian(90;0.17)	885					B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.2654G>T	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838974	0.32513	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.90676	-2.71	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.85062	0.5611	L	0.34521	1.04	0.80722	D	1	B;B;B	0.21309	0.017;0.054;0.022	B;B;B	0.20184	0.009;0.028;0.022	T	0.80329	-0.1428	10	0.15952	T	0.53	.	16.3623	0.83273	0.0:1.0:0.0:0.0	.	885;889;885	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	V	885;889	ENSP00000301732:G885V	ENSP00000301732:G885V	G	-	2	0	ABCA3	2279482	1.000000	0.71417	0.074000	0.20217	0.072000	0.16883	7.016000	0.76393	2.423000	0.82170	0.561000	0.74099	GGA		0.682	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		3	11	1	0	0.000602214	0.000614699	3	11				
SRRM2	23524	broad.mit.edu	37	16	2814163	2814163	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:2814163G>C	ENST00000301740.8	+	11	4183	c.3634G>C	c.(3634-3636)Gaa>Caa	p.E1212Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1212	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCCGCCAAGGGAAAGAAGTGG	0.453																																						uc002crk.2		NA																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(3634-3636)GAA>CAA		splicing coactivator subunit SRm300							109.0	113.0	112.0					16																	2814163		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2814163G>C	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.3634G>C	16.37:g.2814163G>C	ENSP00000301740:p.Glu1212Gln					SRRM2_uc002crj.1_Missense_Mutation_p.E1116Q|SRRM2_uc002crl.1_Missense_Mutation_p.E1212Q|SRRM2_uc010bsu.1_Missense_Mutation_p.E1116Q	p.E1212Q	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	4183	+			1212			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.3634G>C	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	2.997	-0.206906	0.06180	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	D	0.92699	-3.09	5.76	5.76	0.90799	.	0.278041	0.31438	N	0.007653	D	0.86793	0.6018	L	0.40543	1.245	0.28210	N	0.926951	P	0.37466	0.596	B	0.35470	0.203	T	0.80867	-0.1190	10	0.30078	T	0.28	-2.2313	10.8303	0.46656	0.085:0.0:0.915:0.0	.	1212	Q9UQ35	SRRM2_HUMAN	Q	1212;1212;464	ENSP00000301740:E1212Q	ENSP00000301740:E1212Q	E	+	1	0	SRRM2	2754164	1.000000	0.71417	0.825000	0.32803	0.070000	0.16714	3.356000	0.52269	2.727000	0.93392	0.655000	0.94253	GAA		0.453	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			68	150	0	0	0	0	68	150				
TFAP4	7023	broad.mit.edu	37	16	4310485	4310485	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:4310485C>T	ENST00000204517.6	-	5	965	c.637G>A	c.(637-639)Gag>Aag	p.E213K		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	213	Gln-rich.				cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						tgttcccgctccagcttctcc	0.647																																						uc010uxg.1		NA																	0				ovary(1)	1						c.(637-639)GAG>AAG		transcription factor AP-4 (activating enhancer							24.0	23.0	23.0					16																	4310485		2196	4300	6496	SO:0001583	missense	7023				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:4310485C>T	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"""Basic helix-loop-helix proteins"""	11745	protein-coding gene	gene with protein product		600743	"""transcription factor AP-4 (activating enhancer-binding protein 4)"""			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.637G>A	16.37:g.4310485C>T	ENSP00000204517:p.Glu213Lys						p.E213K	NM_003223	NP_003214	Q01664	TFAP4_HUMAN			5	891	-			213			Gln-rich.		O60409	Missense_Mutation	SNP	ENST00000204517.6	37	c.637G>A	CCDS10510.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282203	0.59867	.	.	ENSG00000090447	ENST00000204517	D	0.98732	-5.1	4.78	4.78	0.61160	.	0.427960	0.22672	N	0.057059	D	0.96380	0.8819	L	0.34521	1.04	0.36643	D	0.87694	B	0.30482	0.281	B	0.22152	0.038	D	0.97382	0.9983	10	0.54805	T	0.06	.	17.7862	0.88539	0.0:1.0:0.0:0.0	.	213	Q01664	TFAP4_HUMAN	K	213	ENSP00000204517:E213K	ENSP00000204517:E213K	E	-	1	0	TFAP4	4250486	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.423000	0.66458	2.348000	0.79779	0.563000	0.77884	GAG		0.647	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251595.2	NM_003223		4	14	0	0	0	0	4	14				
C16orf71	146562	broad.mit.edu	37	16	4797506	4797506	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:4797506C>G	ENST00000299320.5	+	9	1921	c.1443C>G	c.(1441-1443)ctC>ctG	p.L481L	C16orf71_ENST00000590191.1_Silent_p.L498L|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	481										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						ACATGAAGCTCTGTGCCAAGG	0.677																																						uc002cxn.2		NA																	0				central_nervous_system(1)	1						c.(1441-1443)CTC>CTG		hypothetical protein LOC146562							25.0	28.0	27.0					16																	4797506		2195	4300	6495	SO:0001819	synonymous_variant	146562							g.chr16:4797506C>G	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.1443C>G	16.37:g.4797506C>G							p.L481L	NM_139170	NP_631909	Q8IYS4	CP071_HUMAN			9	1905	+			481					Q8NCV0	Silent	SNP	ENST00000299320.5	37	c.1443C>G	CCDS10521.1																																																																																				0.677	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170		22	39	0	0	0	0	22	39				
PPL	5493	broad.mit.edu	37	16	4940880	4940880	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:4940880C>T	ENST00000345988.2	-	17	2100	c.2011G>A	c.(2011-2013)Gag>Aag	p.E671K	PPL_ENST00000590782.2_Missense_Mutation_p.E669K	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	671					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGCTCCACCTCACCCAGGAGG	0.677																																						uc002cyd.1		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2011-2013)GAG>AAG		periplakin							20.0	21.0	21.0					16																	4940880		2154	4241	6395	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4940880C>T	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2011G>A	16.37:g.4940880C>T	ENSP00000340510:p.Glu671Lys						p.E671K	NM_002705	NP_002696	O60437	PEPL_HUMAN			17	2101	-			671			Potential.		O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.2011G>A	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.102717	0.56183	.	.	ENSG00000118898	ENST00000345988	T	0.23348	1.91	5.21	4.25	0.50352	.	0.197412	0.43110	D	0.000603	T	0.25232	0.0613	M	0.66939	2.045	0.34841	D	0.740705	B	0.27498	0.18	B	0.24541	0.054	T	0.27020	-1.0086	10	0.09338	T	0.73	.	13.8048	0.63223	0.0:0.9265:0.0:0.0735	.	671	O60437	PEPL_HUMAN	K	671	ENSP00000340510:E671K	ENSP00000340510:E671K	E	-	1	0	PPL	4880881	1.000000	0.71417	0.964000	0.40570	0.776000	0.43924	4.723000	0.61965	1.416000	0.47057	0.644000	0.83932	GAG		0.677	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		4	6	0	0	0	0	4	6				
PPL	5493	broad.mit.edu	37	16	4944472	4944472	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:4944472C>G	ENST00000345988.2	-	12	1479	c.1390G>C	c.(1390-1392)Gac>Cac	p.D464H	PPL_ENST00000590782.2_Missense_Mutation_p.D462H	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	464					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TTGTACCTGTCAGCCAGAGCC	0.627																																						uc002cyd.1		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1390-1392)GAC>CAC		periplakin							72.0	64.0	67.0					16																	4944472		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4944472C>G	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.1390G>C	16.37:g.4944472C>G	ENSP00000340510:p.Asp464His						p.D464H	NM_002705	NP_002696	O60437	PEPL_HUMAN			12	1480	-			464			Spectrin 2.		O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.1390G>C	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.998646	0.93227	.	.	ENSG00000118898	ENST00000345988	T	0.37584	1.19	5.15	5.15	0.70609	.	0.115050	0.64402	D	0.000020	T	0.51143	0.1657	L	0.56769	1.78	0.58432	D	0.99999	D	0.58620	0.983	P	0.54499	0.754	T	0.51419	-0.8708	10	0.56958	D	0.05	.	18.8236	0.92108	0.0:1.0:0.0:0.0	.	464	O60437	PEPL_HUMAN	H	464	ENSP00000340510:D464H	ENSP00000340510:D464H	D	-	1	0	PPL	4884473	1.000000	0.71417	0.965000	0.40720	0.986000	0.74619	7.164000	0.77533	2.683000	0.91414	0.455000	0.32223	GAC		0.627	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		25	57	0	0	0	0	25	57				
BFAR	51283	broad.mit.edu	37	16	14755859	14755859	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:14755859C>T	ENST00000261658.2	+	6	1171	c.894C>T	c.(892-894)ttC>ttT	p.F298F	BFAR_ENST00000563971.1_Silent_p.F173F|BFAR_ENST00000426842.2_Silent_p.F170F	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	298					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						TCCTACCTTTCATCCACACCA	0.542																																						uc002dco.2		NA																	0				ovary(1)|skin(1)	2						c.(892-894)TTC>TTT		bifunctional apoptosis regulator							212.0	176.0	188.0					16																	14755859		2197	4300	6497	SO:0001819	synonymous_variant	51283				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding	g.chr16:14755859C>T	AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"""RING-type (C3HC4) zinc fingers"", ""Sterile alpha motif (SAM) domain containing"""	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.894C>T	16.37:g.14755859C>T						BFAR_uc002dcp.2_Silent_p.F173F|BFAR_uc010uzh.1_Silent_p.F170F	p.F298F	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN			6	1175	+			298			Lumenal (Potential).		A8K4Z9|B4DUT0|D3DUG8	Silent	SNP	ENST00000261658.2	37	c.894C>T	CCDS10554.1																																																																																				0.542	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1	NM_016561		76	212	0	0	0	0	76	212				
PDXDC1	23042	broad.mit.edu	37	16	15100328	15100328	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:15100328C>T	ENST00000396410.4	+	6	564	c.467C>T	c.(466-468)tCt>tTt	p.S156F	PDXDC1_ENST00000563679.1_Missense_Mutation_p.S174F|PDXDC1_ENST00000325823.7_Missense_Mutation_p.S141F|PDXDC1_ENST00000447912.2_Missense_Mutation_p.S65F|PDXDC1_ENST00000569715.1_Missense_Mutation_p.S129F|PDXDC1_ENST00000455313.2_Missense_Mutation_p.S156F|PDXDC1_ENST00000535621.2_Missense_Mutation_p.S156F|PDXDC1_ENST00000450288.2_Missense_Mutation_p.S128F	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	156					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCCATTCATTCTCGATATGAA	0.398																																						uc002dda.3		NA																	0				skin(1)	1						c.(466-468)TCT>TTT		pyridoxal-dependent decarboxylase domain	Pyridoxal Phosphate(DB00114)						181.0	179.0	179.0					16																	15100328		2197	4300	6497	SO:0001583	missense	23042				carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	g.chr16:15100328C>T	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.467C>T	16.37:g.15100328C>T	ENSP00000379691:p.Ser156Phe					PDXDC1_uc010uzl.1_Missense_Mutation_p.S141F|PDXDC1_uc010uzm.1_Missense_Mutation_p.S65F|PDXDC1_uc010bvc.1_Missense_Mutation_p.S97F|PDXDC1_uc002dcz.2_Missense_Mutation_p.S156F|PDXDC1_uc002ddb.3_Missense_Mutation_p.S129F|PDXDC1_uc010uzn.1_Missense_Mutation_p.S128F|PDXDC1_uc002ddc.2_Missense_Mutation_p.S156F	p.S156F	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN			6	691	+			156					B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	37	c.467C>T	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.972339	0.92919	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000535621;ENST00000396410;ENST00000450288;ENST00000455313	T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21	5.82	5.82	0.92795	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.272978	0.39985	N	0.001211	T	0.50446	0.1616	L	0.40543	1.245	0.58432	D	0.999994	P;P;P;P;P;P;P	0.52316	0.858;0.948;0.931;0.952;0.931;0.858;0.889	P;P;P;P;P;P;B	0.60789	0.748;0.879;0.748;0.761;0.83;0.748;0.443	T	0.30149	-0.9988	10	0.40728	T	0.16	-17.6029	19.1024	0.93279	0.0:1.0:0.0:0.0	.	128;65;141;156;128;156;156	E7EPL4;E7EMH5;B4DHL7;Q86XE2;B4DR55;Q6P996;Q6P996-2	.;.;.;.;.;PDXD1_HUMAN;.	F	141;65;156;156;128;156	ENSP00000322807:S141F;ENSP00000400310:S65F;ENSP00000437835:S156F;ENSP00000379691:S156F;ENSP00000391147:S128F;ENSP00000406703:S156F	ENSP00000322807:S141F	S	+	2	0	PDXDC1	15007829	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.890000	0.75633	2.765000	0.95021	0.650000	0.86243	TCT		0.398	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027		46	293	0	0	0	0	46	293				
COQ7	10229	broad.mit.edu	37	16	19087180	19087180	+	Nonsense_Mutation	SNP	C	C	T	rs150852870		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:19087180C>T	ENST00000321998.5	+	4	571	c.505C>T	c.(505-507)Cag>Tag	p.Q169*	COQ7_ENST00000544894.2_Nonsense_Mutation_p.Q131*|COQ7_ENST00000569127.1_Nonsense_Mutation_p.Q146*|COQ7_ENST00000568985.1_Nonsense_Mutation_p.Q169*	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	169	2 X approximate tandem repeats.				age-dependent response to oxidative stress (GO:0001306)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|in utero embryonic development (GO:0001701)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrion morphogenesis (GO:0070584)|neural tube formation (GO:0001841)|neurogenesis (GO:0022008)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						GGAACTTCTTCAGGTATTTAT	0.488																																						uc002dfr.2		NA																	0				skin(1)	1						c.(505-507)CAG>TAG		COQ7 protein							98.0	90.0	93.0					16																	19087180		2197	4300	6497	SO:0001587	stop_gained	10229				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding	g.chr16:19087180C>T	U81276	CCDS10574.1, CCDS53993.1	16p12.3	2008-05-14	2001-11-28		ENSG00000167186	ENSG00000167186			2244	protein-coding gene	gene with protein product		601683	"""coenzyme Q, 7 (rat, yeast) homolog"""			9020081, 10373325	Standard	NM_016138		Approved	CLK-1, CAT5	uc002dfr.3	Q99807	OTTHUMG00000131455	ENST00000321998.5:c.505C>T	16.37:g.19087180C>T	ENSP00000322316:p.Gln169*					COQ7_uc002dfs.2_Nonsense_Mutation_p.Q155*	p.Q169*	NM_016138	NP_057222	Q99807	COQ7_HUMAN			4	565	+			169			2.|2 X approximate tandem repeats.		B2RDA9|Q9BTT7|Q9H0T5|Q9UEW5|Q9UNR5	Nonsense_Mutation	SNP	ENST00000321998.5	37	c.505C>T	CCDS10574.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067498	0.76301	.	.	ENSG00000167186	ENST00000321998;ENST00000544894	.	.	.	5.69	5.69	0.88448	.	0.049570	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-7.8045	15.7801	0.78252	0.0:0.8636:0.1363:0.0	.	.	.	.	X	169;131	.	ENSP00000322316:Q169X	Q	+	1	0	COQ7	18994681	0.997000	0.39634	0.981000	0.43875	0.953000	0.61014	3.516000	0.53436	2.679000	0.91253	0.650000	0.86243	CAG		0.488	COQ7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254275.3	NM_016138		19	66	0	0	0	0	19	66				
ACSM2B	348158	broad.mit.edu	37	16	20570614	20570614	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:20570614C>G	ENST00000329697.6	-	3	501	c.333G>C	c.(331-333)gtG>gtC	p.V111V	ACSM2B_ENST00000565232.1_Silent_p.V111V|ACSM2B_ENST00000414188.2_Silent_p.V111V|ACSM2B_ENST00000565322.1_Silent_p.V32V|ACSM2B_ENST00000567001.1_Silent_p.V111V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	111					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GGGGCAGCATCACTGCCACAC	0.552																																						uc002dhj.3		NA																	0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(331-333)GTG>GTC		acyl-CoA synthetase medium-chain family member							79.0	63.0	68.0					16																	20570614		2201	4300	6501	SO:0001819	synonymous_variant	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20570614C>G	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.333G>C	16.37:g.20570614C>G						ACSM2B_uc002dhk.3_Silent_p.V111V|ACSM2B_uc010bwf.1_Silent_p.V111V	p.V111V	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			4	543	-			111					Q86YT1	Silent	SNP	ENST00000329697.6	37	c.333G>C	CCDS10586.1																																																																																				0.552	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		15	36	0	0	0	0	15	36				
DNAH3	55567	broad.mit.edu	37	16	20944735	20944735	+	Missense_Mutation	SNP	G	G	A	rs573677462		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:20944735G>A	ENST00000261383.3	-	62	12091	c.12092C>T	c.(12091-12093)aCg>aTg	p.T4031M	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	4031					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)			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)		AATCTGCATCGTTTTCCTGTC	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		19752	0.0		0.001	False		,,,				2504	0.0					uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(12091-12093)ACG>ATG		dynein, axonemal, heavy chain 3							134.0	131.0	132.0					16																	20944735		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20944735G>A	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.12092C>T	16.37:g.20944735G>A	ENSP00000261383:p.Thr4031Met					DNAH3_uc010vbd.1_Missense_Mutation_p.T1466M	p.T4031M	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	62	12092	-			4031					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.12092C>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.324403	0.24080	.	.	ENSG00000158486	ENST00000261383	T	0.08984	3.03	5.24	-6.57	0.01842	Dynein heavy chain (1);	1.275710	0.05253	N	0.514322	T	0.05502	0.0145	L	0.41027	1.25	0.09310	N	1	B	0.29037	0.231	B	0.20955	0.032	T	0.31943	-0.9925	10	0.49607	T	0.09	.	2.4031	0.04406	0.4006:0.0902:0.3499:0.1593	.	4031	Q8TD57	DYH3_HUMAN	M	4031	ENSP00000261383:T4031M	ENSP00000261383:T4031M	T	-	2	0	DNAH3	20852236	0.000000	0.05858	0.000000	0.03702	0.945000	0.59286	-0.293000	0.08320	-1.438000	0.01965	-1.350000	0.01237	ACG		0.507	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		52	133	0	0	0	0	52	133				
DNAH3	55567	broad.mit.edu	37	16	20975168	20975168	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:20975168G>C	ENST00000261383.3	-	53	10037	c.10038C>G	c.(10036-10038)atC>atG	p.I3346M	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3346					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)			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)		TGATGTACTTGATGCGCAGAT	0.483																																						uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(10036-10038)ATC>ATG		dynein, axonemal, heavy chain 3							175.0	134.0	148.0					16																	20975168		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20975168G>C	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.10038C>G	16.37:g.20975168G>C	ENSP00000261383:p.Ile3346Met					DNAH3_uc010vbd.1_Missense_Mutation_p.I781M	p.I3346M	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	10038	-			3346					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.10038C>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	3.181	-0.167981	0.06461	.	.	ENSG00000158486	ENST00000261383	T	0.59638	0.25	5.78	-8.36	0.00980	.	0.060996	0.64402	D	0.000008	T	0.59742	0.2216	M	0.64260	1.97	0.45704	D	0.998613	D	0.71674	0.998	D	0.67548	0.952	T	0.69060	-0.5245	10	0.54805	T	0.06	.	7.4984	0.27503	0.4533:0.0:0.3695:0.1772	.	3346	Q8TD57	DYH3_HUMAN	M	3346	ENSP00000261383:I3346M	ENSP00000261383:I3346M	I	-	3	3	DNAH3	20882669	0.002000	0.14202	0.000000	0.03702	0.010000	0.07245	-0.472000	0.06623	-1.004000	0.03421	0.563000	0.77884	ATC		0.483	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		40	135	0	0	0	0	40	135				
ERN2	10595	broad.mit.edu	37	16	23706664	23706664	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:23706664C>G	ENST00000457008.2	-	14	1539	c.1501G>C	c.(1501-1503)Gag>Cag	p.E501Q	ERN2_ENST00000256797.4_Missense_Mutation_p.E601Q					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCAAAGCACTCGCGGAGGAGC	0.627																																						uc002dma.3		NA																	0				large_intestine(2)|lung(2)|ovary(2)	6						c.(1801-1803)GAG>CAG		endoplasmic reticulum to nucleus signalling 2							15.0	17.0	16.0					16																	23706664		2194	4294	6488	SO:0001583	missense	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23706664C>G	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1501G>C	16.37:g.23706664C>G	ENSP00000413812:p.Glu501Gln					ERN2_uc010bxp.2_Missense_Mutation_p.E549Q	p.E601Q	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	15	1970	-			553			Protein kinase.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000457008.2	37	c.1801G>C		.	.	.	.	.	.	.	.	.	.	C	24.5	4.542986	0.86022	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.66280	-0.2;-0.2	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.71264	0.3319	L	0.35542	1.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.971	T	0.69705	-0.5073	10	0.44086	T	0.13	.	17.5778	0.87956	0.0:1.0:0.0:0.0	.	501;553	E7ETG2;A5YM65	.;.	Q	601;501	ENSP00000256797:E601Q;ENSP00000413812:E501Q	ENSP00000256797:E601Q	E	-	1	0	ERN2	23614165	1.000000	0.71417	0.926000	0.36857	0.961000	0.63080	4.556000	0.60775	2.825000	0.97269	0.655000	0.94253	GAG		0.627	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			5	12	0	0	0	0	5	12				
ARHGAP17	55114	broad.mit.edu	37	16	24958901	24958901	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:24958901G>T	ENST00000289968.6	-	14	1212	c.1143C>A	c.(1141-1143)ttC>ttA	p.F381L	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.F381L	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	381	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GCTTTGCAAGGAACTTGATCA	0.468																																						uc002dnb.2		NA																	0					0						c.(1141-1143)TTC>TTA		nadrin isoform 1							109.0	99.0	103.0					16																	24958901		2197	4300	6497	SO:0001583	missense	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24958901G>T	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.1143C>A	16.37:g.24958901G>T	ENSP00000289968:p.Phe381Leu					ARHGAP17_uc002dna.2_Missense_Mutation_p.F108L|ARHGAP17_uc002dnc.2_Missense_Mutation_p.F381L|ARHGAP17_uc010vcf.1_Missense_Mutation_p.F202L	p.F381L	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	14	1236	-			381			Rho-GAP.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.1143C>A	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603589	0.87157	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.19250	2.16;2.16	6.16	5.21	0.72293	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.46758	D	0.000272	T	0.44414	0.1292	M	0.66297	2.02	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.987;0.994	T	0.42932	-0.9422	10	0.87932	D	0	.	13.4569	0.61204	0.0751:0.0:0.9249:0.0	.	381;381	Q68EM7-2;Q68EM7	.;RHG17_HUMAN	L	381	ENSP00000289968:F381L;ENSP00000303130:F381L	ENSP00000289968:F381L	F	-	3	2	ARHGAP17	24866402	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.527000	0.45615	1.621000	0.50320	0.650000	0.86243	TTC		0.468	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		20	98	1	0	1.4e-16	1.49e-16	20	98				
ZKSCAN2	342357	broad.mit.edu	37	16	25251184	25251184	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:25251184C>T	ENST00000328086.7	-	7	3660	c.2857G>A	c.(2857-2859)Gag>Aag	p.E953K	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	953					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TGTGGGTTCTCAGGGCAATAC	0.423																																						uc002dod.3		NA																	0				ovary(3)|breast(1)	4						c.(2857-2859)GAG>AAG		zinc finger with KRAB and SCAN domains 2							128.0	120.0	123.0					16																	25251184		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25251184C>T	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2857G>A	16.37:g.25251184C>T	ENSP00000331626:p.Glu953Lys					ZKSCAN2_uc010vcl.1_Missense_Mutation_p.E749K	p.E953K	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	7	3264	-			953					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.2857G>A	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591713	0.86953	.	.	ENSG00000155592	ENST00000328086	T	0.06933	3.24	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000005	T	0.07818	0.0196	L	0.36672	1.1	0.38606	D	0.950772	P;P	0.46621	0.881;0.785	B;B	0.40982	0.32;0.345	T	0.11012	-1.0605	10	0.45353	T	0.12	-25.978	9.7908	0.40704	0.0:0.9095:0.0:0.0905	.	749;953	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	K	953	ENSP00000331626:E953K	ENSP00000331626:E953K	E	-	1	0	ZKSCAN2	25158685	0.046000	0.20272	0.556000	0.28293	0.889000	0.51656	1.770000	0.38532	2.756000	0.94617	0.563000	0.77884	GAG		0.423	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		50	159	0	0	0	0	50	159				
HS3ST4	9951	broad.mit.edu	37	16	26147555	26147555	+	Missense_Mutation	SNP	G	G	C	rs373720008		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:26147555G>C	ENST00000331351.5	+	2	1749	c.1357G>C	c.(1357-1359)Gag>Cag	p.E453Q		NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	453					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GGAACAGGAAGAGGGTGATAA	0.463																																						uc002dof.2		NA																	0				large_intestine(1)|breast(1)	2						c.(1357-1359)GAG>CAG		heparan sulfate D-glucosaminyl							49.0	44.0	46.0					16																	26147555		1568	3582	5150	SO:0001583	missense	9951				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr16:26147555G>C	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.1357G>C	16.37:g.26147555G>C	ENSP00000330606:p.Glu453Gln						p.E453Q	NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	2	1749	+			453			Lumenal (Potential).		Q5QI42|Q8NDC2	Missense_Mutation	SNP	ENST00000331351.5	37	c.1357G>C	CCDS53995.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364209	0.82463	.	.	ENSG00000182601	ENST00000331351	T	0.48201	0.82	5.56	4.61	0.57282	.	0.000000	0.64402	U	0.000014	T	0.36386	0.0965	N	0.22421	0.69	0.38876	D	0.956803	P	0.48764	0.915	B	0.42062	0.374	T	0.42882	-0.9425	10	0.87932	D	0	.	13.6793	0.62474	0.0748:0.0:0.9252:0.0	.	453	Q9Y661	HS3S4_HUMAN	Q	453	ENSP00000330606:E453Q	ENSP00000330606:E453Q	E	+	1	0	HS3ST4	26055056	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.823000	0.99369	1.334000	0.45468	0.655000	0.94253	GAG		0.463	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		7	30	0	0	0	0	7	30				
GDPD3	79153	broad.mit.edu	37	16	30123849	30123849	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:30123849G>C	ENST00000406256.3	-	4	736	c.359C>G	c.(358-360)tCt>tGt	p.S120C	MAPK3_ENST00000494643.1_5'Flank|RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	120	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						CTCACCTGGAGAGAAGTAAAC	0.612											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002dwp.2		NA																	0					0						c.(358-360)TCT>TGT		glycerophosphodiester phosphodiesterase domain							56.0	60.0	58.0					16																	30123849		2197	4300	6497	SO:0001583	missense	79153				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr16:30123849G>C	AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.359C>G	16.37:g.30123849G>C	ENSP00000384363:p.Ser120Cys		OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	814	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_Missense_Mutation_p.S58C|LOC100271831_uc010vei.1_5'Flank	p.S120C	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN			4	438	-			120			Extracellular (Potential).|GDPD.		Q9H652	Missense_Mutation	SNP	ENST00000406256.3	37	c.359C>G	CCDS10671.2	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645688	0.67358	.	.	ENSG00000102886	ENST00000406256;ENST00000360688	T	0.34667	1.35	5.52	5.52	0.82312	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.410643	0.27336	N	0.019831	T	0.60483	0.2272	M	0.78049	2.395	0.39657	D	0.97055	D	0.76494	0.999	D	0.72982	0.979	T	0.62723	-0.6794	10	0.45353	T	0.12	.	14.9414	0.70997	0.0:0.0:1.0:0.0	.	120	Q7L5L3	GDPD3_HUMAN	C	120;58	ENSP00000384363:S120C	ENSP00000353909:S58C	S	-	2	0	GDPD3	30031350	0.991000	0.36638	0.985000	0.45067	0.816000	0.46133	2.785000	0.47782	2.577000	0.86979	0.655000	0.94253	TCT		0.612	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307		30	87	0	0	0	0	30	87				
SRCAP	10847	broad.mit.edu	37	16	30712176	30712176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:30712176C>T	ENST00000262518.4	+	3	416	c.31C>T	c.(31-33)Cag>Tag	p.Q11*	RP11-146F11.1_ENST00000568500.1_RNA|RP11-146F11.1_ENST00000564775.1_RNA|SRCAP_ENST00000395059.2_Nonsense_Mutation_p.Q11*|RNU6-1043P_ENST00000410355.1_RNA|SRCAP_ENST00000344771.4_Nonsense_Mutation_p.Q11*	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	11					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGCTCACCCTCAGCTCCCAGT	0.552																																						uc002dze.1		NA																	0				ovary(3)|skin(1)	4						c.(31-33)CAG>TAG		Snf2-related CBP activator protein							65.0	66.0	66.0					16																	30712176		1943	4146	6089	SO:0001587	stop_gained	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30712176C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.31C>T	16.37:g.30712176C>T	ENSP00000262518:p.Gln11*						p.Q11*	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		3	416	+			11					B0JZA6|O15026|Q7Z744|Q9Y5L9	Nonsense_Mutation	SNP	ENST00000262518.4	37	c.31C>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	38	6.824531	0.97865	.	.	ENSG00000080603	ENST00000411466;ENST00000262518;ENST00000395059;ENST00000344771	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-5.8907	17.207	0.86920	0.0:1.0:0.0:0.0	.	.	.	.	X	11	.	ENSP00000262518:Q11X	Q	+	1	0	SRCAP	30619677	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.866000	0.63005	2.582000	0.87167	0.561000	0.74099	CAG		0.552	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		23	90	0	0	0	0	23	90				
MYLK3	91807	broad.mit.edu	37	16	46763019	46763019	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:46763019G>A	ENST00000394809.4	-	7	1804	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	MYLK3_ENST00000536476.1_Silent_p.I222I	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	563	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GCTGGTTCATGATGTTGATCT	0.537																																						uc002eei.3		NA																	0				stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7						c.(1687-1689)ATC>ATT		myosin light chain kinase 3							297.0	237.0	257.0					16																	46763019		2203	4300	6503	SO:0001819	synonymous_variant	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46763019G>A	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.1689C>T	16.37:g.46763019G>A						MYLK3_uc010vge.1_Silent_p.I222I|MYLK3_uc002eej.1_Silent_p.I222I	p.I563I	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN			7	1805	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	563			Protein kinase.		B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Silent	SNP	ENST00000394809.4	37	c.1689C>T	CCDS10723.2																																																																																				0.537	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		35	101	0	0	0	0	35	101				
ITFG1	81533	broad.mit.edu	37	16	47488014	47488014	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:47488014G>A	ENST00000320640.6	-	3	565	c.337C>T	c.(337-339)Caa>Taa	p.Q113*	ITFG1_ENST00000544001.2_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	113						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				ACATCCATTTGAGAATCTCCA	0.363																																						uc002eet.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(337-339)CAA>TAA		integrin alpha FG-GAP repeat containing 1							134.0	132.0	133.0					16																	47488014		2201	4300	6501	SO:0001587	stop_gained	81533					extracellular region|integral to membrane		g.chr16:47488014G>A	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.337C>T	16.37:g.47488014G>A	ENSP00000319918:p.Gln113*					ITFG1_uc010vgh.1_5'UTR|ITFG1_uc010cbf.1_5'UTR	p.Q113*	NM_030790	NP_110417	Q8TB96	TIP_HUMAN			3	399	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)	113					Q96SR4|Q9BRE2|Q9H2V9	Nonsense_Mutation	SNP	ENST00000320640.6	37	c.337C>T	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	G	38	6.674189	0.97751	.	.	ENSG00000129636	ENST00000320640	.	.	.	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-0.4923	20.4777	0.99188	0.0:0.0:1.0:0.0	.	.	.	.	X	113	.	ENSP00000319918:Q113X	Q	-	1	0	ITFG1	46045515	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.865000	0.92300	2.840000	0.97914	0.655000	0.94253	CAA		0.363	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		44	179	0	0	0	0	44	179				
N4BP1	9683	broad.mit.edu	37	16	48596001	48596001	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:48596001C>G	ENST00000262384.3	-	2	789	c.553G>C	c.(553-555)Gaa>Caa	p.E185Q	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	185					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GTCAAAAGTTCTTTTTTCAAG	0.368																																						uc002efp.2		NA																	0					0						c.(553-555)GAA>CAA		Nedd4 binding protein 1							99.0	88.0	91.0					16																	48596001		1851	4094	5945	SO:0001583	missense	9683				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		g.chr16:48596001C>G	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.553G>C	16.37:g.48596001C>G	ENSP00000262384:p.Glu185Gln						p.E185Q	NM_153029	NP_694574	O75113	N4BP1_HUMAN			2	790	-		all_cancers(37;0.179)|all_lung(18;0.11)	185					A7MD49|Q2YDX1	Missense_Mutation	SNP	ENST00000262384.3	37	c.553G>C	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576714	0.65878	.	.	ENSG00000102921	ENST00000262384	T	0.53423	0.62	5.31	4.36	0.52297	.	0.110120	0.64402	D	0.000012	T	0.58380	0.2118	M	0.68317	2.08	0.43531	D	0.995819	D	0.59767	0.986	P	0.53266	0.722	T	0.64571	-0.6376	10	0.72032	D	0.01	-10.8356	14.2169	0.65800	0.0:0.9278:0.0:0.0722	.	185	O75113	N4BP1_HUMAN	Q	185	ENSP00000262384:E185Q	ENSP00000262384:E185Q	E	-	1	0	N4BP1	47153502	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.226000	0.65299	1.370000	0.46153	0.655000	0.94253	GAA		0.368	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		19	74	0	0	0	0	19	74				
N4BP1	9683	broad.mit.edu	37	16	48596101	48596101	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:48596101C>T	ENST00000262384.3	-	2	689	c.453G>A	c.(451-453)caG>caA	p.Q151Q	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	151					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				CTGATTCTTTCTGACTACTGG	0.398																																						uc002efp.2		NA																	0					0						c.(451-453)CAG>CAA		Nedd4 binding protein 1							96.0	93.0	94.0					16																	48596101		1852	4089	5941	SO:0001819	synonymous_variant	9683				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		g.chr16:48596101C>T	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.453G>A	16.37:g.48596101C>T							p.Q151Q	NM_153029	NP_694574	O75113	N4BP1_HUMAN			2	690	-		all_cancers(37;0.179)|all_lung(18;0.11)	151					A7MD49|Q2YDX1	Silent	SNP	ENST00000262384.3	37	c.453G>A	CCDS45479.1																																																																																				0.398	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		27	117	0	0	0	0	27	117				
CYLD	1540	broad.mit.edu	37	16	50783939	50783939	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:50783939C>A	ENST00000427738.3	+	2	535	c.330C>A	c.(328-330)ttC>ttA	p.F110L	CYLD_ENST00000568704.2_Missense_Mutation_p.F110L|CYLD_ENST00000540145.1_Missense_Mutation_p.F110L|CYLD_ENST00000566206.1_Missense_Mutation_p.F110L|CYLD_ENST00000569418.1_Missense_Mutation_p.F110L|CYLD_ENST00000398568.2_Missense_Mutation_p.F110L|CYLD_ENST00000311559.9_Missense_Mutation_p.F110L|CYLD_ENST00000564326.1_Missense_Mutation_p.F110L			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	110	Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AGGAGAGGTTCAGCCTGTTTA	0.398			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													uc002egp.1		NA	yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	Mis|N|F|S	familial cylindromatosis gene			E		cylindroma	cylindroma		0				skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28						c.(328-330)TTC>TTA		ubiquitin carboxyl-terminal hydrolase CYLD							72.0	70.0	70.0					16																	50783939		1837	4085	5922	SO:0001583	missense	1540	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50783939C>A	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.330C>A	16.37:g.50783939C>A	ENSP00000392025:p.Phe110Leu					CYLD_uc002egn.1_Missense_Mutation_p.F110L|CYLD_uc002ego.2_Missense_Mutation_p.F110L|CYLD_uc010cbs.1_Missense_Mutation_p.F110L|CYLD_uc002egq.1_Missense_Mutation_p.F110L|CYLD_uc002egr.1_Missense_Mutation_p.F110L|CYLD_uc002egs.1_Missense_Mutation_p.F110L	p.F110L	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN			4	745	+		all_cancers(37;0.0156)	110			Interaction with TRIP.		O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	c.330C>A	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	C	7.398	0.632244	0.14322	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	6.17	3.11	0.35812	Cytoskeleton-associated protein, Gly-rich domain (1);	0.229252	0.46145	N	0.000315	T	0.51483	0.1677	N	0.14661	0.345	0.25377	N	0.988644	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.27331	-1.0077	10	0.09843	T	0.71	-7.4781	9.2415	0.37500	0.0:0.7484:0.1195:0.1321	.	110;110;110;110	A8KAB0;F5H2R7;Q9NQC7-2;Q9NQC7	.;.;.;CYLD_HUMAN	L	110	ENSP00000445447:F110L;ENSP00000308928:F110L;ENSP00000392025:F110L;ENSP00000381574:F110L	ENSP00000308928:F110L	F	+	3	2	CYLD	49341440	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.203000	0.32284	0.917000	0.36895	-0.136000	0.14681	TTC		0.398	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			34	95	1	0	5.91e-09	6.17e-09	34	95				
CES5A	221223	broad.mit.edu	37	16	55899899	55899899	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:55899899C>T	ENST00000290567.9	-	5	802	c.681G>A	c.(679-681)gcG>gcA	p.A227A	CES5A_ENST00000541580.1_Intron|CES5A_ENST00000520435.1_Silent_p.A197A|CES5A_ENST00000319165.9_Silent_p.A227A|CES5A_ENST00000521992.1_Silent_p.A256A|CES5A_ENST00000518005.1_Silent_p.A121A	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	227						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TTATGGCTCCCGCGGACTCGC	0.512																																						uc002eip.2		NA																	0					0						c.(679-681)GCG>GCA		carboxylesterase 7 isoform 1							48.0	47.0	47.0					16																	55899899		2198	4300	6498	SO:0001819	synonymous_variant	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55899899C>T	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.681G>A	16.37:g.55899899C>T						CES7_uc002eio.2_Silent_p.A227A|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_Silent_p.A121A	p.A227A	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN		all cancers(182;0.229)|Epithelial(162;0.231)	5	830	-			227					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Silent	SNP	ENST00000290567.9	37	c.681G>A	CCDS45490.1																																																																																				0.512	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		12	38	0	0	0	0	12	38				
CETP	1071	broad.mit.edu	37	16	56996944	56996944	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:56996944G>C	ENST00000200676.3	+	2	271	c.141G>C	c.(139-141)gtG>gtC	p.V47V	CETP_ENST00000379780.2_Silent_p.V47V|CETP_ENST00000566128.1_5'UTR|CETP_ENST00000569082.1_3'UTR	NM_000078.2	NP_000069.2			cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CTGCCAAGGTGATCCAGACCG	0.617																																						uc002eki.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(139-141)GTG>GTC		cholesteryl ester transfer protein, plasma							90.0	67.0	75.0					16																	56996944		2198	4300	6498	SO:0001819	synonymous_variant	1071				cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	g.chr16:56996944G>C	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"""BPI fold containing"""	1869	protein-coding gene	gene with protein product	"""BPI fold containing family F"""	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000200676.3:c.141G>C	16.37:g.56996944G>C						CETP_uc002ekj.2_Silent_p.V47V	p.V47V	NM_000078	NP_000069	P11597	CETP_HUMAN			2	198	+			47						Silent	SNP	ENST00000200676.3	37	c.141G>C	CCDS10772.1																																																																																				0.617	CETP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257059.1	NM_000078		19	86	0	0	0	0	19	86				
RANBP10	57610	broad.mit.edu	37	16	67760383	67760383	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:67760383C>T	ENST00000317506.3	-	14	1926	c.1811G>A	c.(1810-1812)cGa>cAa	p.R604Q	RANBP10_ENST00000448631.2_Missense_Mutation_p.R578Q|RANBP10_ENST00000411657.2_Missense_Mutation_p.R517Q|RANBP10_ENST00000536251.1_Missense_Mutation_p.R375Q|RANBP10_ENST00000602677.1_Missense_Mutation_p.R634Q	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	604					microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CAGGCCTGCTCGGGCCATGAG	0.622																																						uc002eud.2		NA																	0				ovary(1)	1						c.(1810-1812)CGA>CAA		RAN binding protein 10							34.0	30.0	31.0					16																	67760383		2196	4298	6494	SO:0001583	missense	57610							g.chr16:67760383C>T	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.1811G>A	16.37:g.67760383C>T	ENSP00000316589:p.Arg604Gln					RANBP10_uc010ceo.2_Missense_Mutation_p.R375Q|RANBP10_uc010vju.1_Missense_Mutation_p.R578Q|RANBP10_uc010vjv.1_Missense_Mutation_p.R517Q	p.R604Q	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	14	1927	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	604					A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	ENST00000317506.3	37	c.1811G>A	CCDS32469.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991130	0.74703	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000536251;ENST00000411657	.	.	.	6.04	6.04	0.98038	Ran binding protein-like, CRA domain (1);Ran binding protein, CRA domain (1);	0.000000	0.85682	D	0.000000	T	0.49643	0.1569	N	0.16903	0.455	0.80722	D	1	P;D;P	0.71674	0.835;0.998;0.454	B;D;B	0.66602	0.06;0.945;0.018	T	0.41734	-0.9492	9	0.02654	T	1	-22.4271	13.4086	0.60929	0.0:0.928:0.0:0.072	.	517;578;604	B4DID0;B4DQH9;Q6VN20	.;.;RBP10_HUMAN	Q	604;578;375;517	.	ENSP00000316589:R604Q	R	-	2	0	RANBP10	66317884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.037000	0.70956	2.873000	0.98535	0.563000	0.77884	CGA		0.622	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		3	22	0	0	0	0	3	22				
HAS3	3038	broad.mit.edu	37	16	69148601	69148601	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:69148601G>A	ENST00000306560.1	+	4	1250	c.1094G>A	c.(1093-1095)tGg>tAg	p.W365*	HAS3_ENST00000569188.1_Nonsense_Mutation_p.W365*|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	365					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TTCCGGGAGTGGCTCTACAAC	0.547																																						uc010cfh.2		NA																	0					0						c.(1093-1095)TGG>TAG		hyaluronan synthase 3 isoform a							115.0	102.0	106.0					16																	69148601		2198	4300	6498	SO:0001587	stop_gained	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69148601G>A	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.1094G>A	16.37:g.69148601G>A	ENSP00000304440:p.Trp365*					HAS3_uc002ewk.2_Intron|HAS3_uc002ewl.2_Nonsense_Mutation_p.W365*	p.W365*	NM_005329	NP_005320	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	4	1318	+		Ovarian(137;0.101)	365			Cytoplasmic (Potential).		A8K5T5|Q8WTZ0|Q9NYP0	Nonsense_Mutation	SNP	ENST00000306560.1	37	c.1094G>A	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	G	37	6.132796	0.97310	.	.	ENSG00000103044	ENST00000306560	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-10.7213	20.2544	0.98414	0.0:0.0:1.0:0.0	.	.	.	.	X	365	.	ENSP00000304440:W365X	W	+	2	0	HAS3	67706102	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.807000	0.99171	2.885000	0.99019	0.655000	0.94253	TGG		0.547	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		4	183	0	0	0	0	4	183				
HYDIN	54768	broad.mit.edu	37	16	71054110	71054110	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:71054110C>T	ENST00000393567.2	-	22	3447	c.3297G>A	c.(3295-3297)gaG>gaA	p.E1099E	HYDIN_ENST00000448089.2_Silent_p.E1051E	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1099					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)				ATTTATCAGTCTCACATATAA	0.502																																						uc002ezr.2		NA																	0				ovary(1)|skin(1)	2						c.(3295-3297)GAG>GAA		hydrocephalus inducing isoform a							33.0	35.0	35.0					16																	71054110		1825	4081	5906	SO:0001819	synonymous_variant	54768							g.chr16:71054110C>T	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.3297G>A	16.37:g.71054110C>T							p.E1099E	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			22	3425	-		Ovarian(137;0.0654)	1099					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.3297G>A	CCDS59269.1																																																																																				0.502	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			9	25	0	0	0	0	9	25				
HYDIN	54768	broad.mit.edu	37	16	71054112	71054112	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:71054112C>T	ENST00000393567.2	-	22	3445	c.3295G>A	c.(3295-3297)Gag>Aag	p.E1099K	HYDIN_ENST00000448089.2_Missense_Mutation_p.E1051K	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1099					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)		p.E1051Q(1)		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)				TTATCAGTCTCACATATAAAG	0.507																																						uc002ezr.2		NA																	1	Substitution - Missense(1)		breast(1)	ovary(1)|skin(1)	2						c.(3295-3297)GAG>AAG		hydrocephalus inducing isoform a							33.0	35.0	35.0					16																	71054112		1822	4081	5903	SO:0001583	missense	54768							g.chr16:71054112C>T	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.3295G>A	16.37:g.71054112C>T	ENSP00000377197:p.Glu1099Lys						p.E1099K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			22	3423	-		Ovarian(137;0.0654)	1099					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.3295G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360845	0.82353	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089	T;T	0.06933	3.24;3.24	4.61	3.65	0.41850	.	0.479111	0.14941	U	0.289540	T	0.07458	0.0188	L	0.50333	1.59	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.09228	-1.0684	10	0.07175	T	0.84	.	8.306	0.32042	0.0:0.7471:0.0:0.2529	.	1099	F8WD23	.	K	1099;1099;1051	ENSP00000377197:E1099K;ENSP00000398544:E1051K	ENSP00000313052:E1099K	E	-	1	0	HYDIN	69611613	0.355000	0.24921	0.691000	0.30163	0.473000	0.32948	1.367000	0.34204	1.078000	0.41014	0.505000	0.49811	GAG		0.507	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			10	24	0	0	0	0	10	24				
CALB2	794	broad.mit.edu	37	16	71418697	71418697	+	Silent	SNP	G	G	A	rs143688092		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:71418697G>A	ENST00000302628.4	+	9	662	c.585G>A	c.(583-585)ctG>ctA	p.L195L	CALB2_ENST00000349553.5_Intron	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	195	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				GCATGAAGCTGACCTCAGAGG	0.502																																						uc002faa.3		NA																	0					0						c.(583-585)CTG>CTA		calbindin 2 isoform 1			,	0,4396		0,0,2198	288.0	227.0	248.0		585,	5.8	1.0	16	dbSNP_134	248	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous,intron	CALB2	NM_001740.4,NM_007088.3	,	0,4,6494	AA,AG,GG		0.0465,0.0,0.0308	,	195/272,	71418697	4,12992	2198	4300	6498	SO:0001819	synonymous_variant	794						calcium ion binding	g.chr16:71418697G>A	X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"""EF-hand domain containing"""	1435	protein-coding gene	gene with protein product	"""calretinin"""	114051	"""calbindin 2, 29kDa (calretinin)"""			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.585G>A	16.37:g.71418697G>A						CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_Intron	p.L195L	NM_001740	NP_001731	P22676	CALB2_HUMAN			9	655	+		Ovarian(137;0.125)	195			EF-hand 5.		A8K4Y1|Q53HD2|Q96BK4	Silent	SNP	ENST00000302628.4	37	c.585G>A	CCDS10899.1																																																																																				0.502	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740		52	132	0	0	0	0	52	132				
GLG1	2734	broad.mit.edu	37	16	74516954	74516954	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:74516954A>G	ENST00000422840.2	-	10	1639	c.1640T>C	c.(1639-1641)tTa>tCa	p.L547S	GLG1_ENST00000447066.2_Missense_Mutation_p.L536S|GLG1_ENST00000205061.5_Missense_Mutation_p.L547S	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	547					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CTGCAGCTCTAAGAGACGGTG	0.403																																						uc002fcy.3		NA																	0				ovary(1)|breast(1)	2						c.(1639-1641)TTA>TCA		golgi apparatus protein 1 isoform 3							129.0	123.0	125.0					16																	74516954		2198	4300	6498	SO:0001583	missense	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74516954A>G		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1640T>C	16.37:g.74516954A>G	ENSP00000405984:p.Leu547Ser					GLG1_uc002fcx.2_Missense_Mutation_p.L547S|GLG1_uc002fcw.3_Missense_Mutation_p.L536S|GLG1_uc002fcz.3_Intron	p.L547S	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN			10	1690	-			547			Extracellular (Potential).|Cys-rich GLG1 8.		B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	c.1640T>C	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.907190	0.92107	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000001	T	0.79534	0.4462	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.994;0.99	T	0.81158	-0.1060	9	0.62326	D	0.03	-5.4276	16.5655	0.84588	1.0:0.0:0.0:0.0	.	547;547;536	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	S	547;536;547	.	ENSP00000205061:L547S	L	-	2	0	GLG1	73074455	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	9.233000	0.95337	2.302000	0.77476	0.533000	0.62120	TTA		0.403	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		35	96	0	0	0	0	35	96				
VAT1L	57687	broad.mit.edu	37	16	77859251	77859251	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:77859251G>A	ENST00000302536.2	+	3	625	c.472G>A	c.(472-474)Gct>Act	p.A158T		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	158							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CTTCTCCGAGGCTGCTGCATT	0.537																																						uc002ffg.1		NA																	0				central_nervous_system(1)	1						c.(472-474)GCT>ACT		vesicle amine transport protein 1 homolog (T.							129.0	104.0	113.0					16																	77859251		2198	4300	6498	SO:0001583	missense	57687						oxidoreductase activity|zinc ion binding	g.chr16:77859251G>A	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.472G>A	16.37:g.77859251G>A	ENSP00000303129:p.Ala158Thr						p.A158T	NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN			3	569	+			158					Q8IYW8	Missense_Mutation	SNP	ENST00000302536.2	37	c.472G>A	CCDS32492.1	.	.	.	.	.	.	.	.	.	.	G	31	5.065519	0.93898	.	.	ENSG00000171724	ENST00000302536	T	0.44881	0.91	6.03	6.03	0.97812	GroES-like (1);NAD(P)-binding domain (1);	0.044478	0.85682	D	0.000000	T	0.69940	0.3167	H	0.94306	3.52	0.80722	D	1	D	0.56035	0.974	P	0.52710	0.707	T	0.78578	-0.2150	10	0.87932	D	0	3.1772	20.1519	0.98089	0.0:0.0:1.0:0.0	.	158	Q9HCJ6	VAT1L_HUMAN	T	158	ENSP00000303129:A158T	ENSP00000303129:A158T	A	+	1	0	VAT1L	76416752	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.948000	0.87774	2.861000	0.98227	0.655000	0.94253	GCT		0.537	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927		19	63	0	0	0	0	19	63				
MBTPS1	8720	broad.mit.edu	37	16	84125404	84125404	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:84125404T>C	ENST00000343411.3	-	7	1391	c.896A>G	c.(895-897)aAg>aGg	p.K299R	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	299	Peptidase S8.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GTCGATCTTCTTTAAAATGGC	0.423																																						uc002fhi.2		NA																	0				ovary(2)	2						c.(895-897)AAG>AGG		membrane-bound transcription factor site-1							102.0	97.0	98.0					16																	84125404		2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84125404T>C	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.896A>G	16.37:g.84125404T>C	ENSP00000344223:p.Lys299Arg						p.K299R	NM_003791	NP_003782	Q14703	MBTP1_HUMAN			7	1398	-			299			Serine protease.|Lumenal (Potential).		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.896A>G	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.337542	0.41398	.	.	ENSG00000140943	ENST00000343411	T	0.43688	0.94	5.53	4.44	0.53790	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.043576	0.85682	N	0.000000	T	0.25195	0.0612	N	0.05510	-0.035	0.58432	D	0.999998	B	0.24576	0.106	B	0.32533	0.147	T	0.06197	-1.0840	10	0.20046	T	0.44	-23.3938	11.6805	0.51455	0.0:0.0696:0.0:0.9304	.	299	Q14703	MBTP1_HUMAN	R	299	ENSP00000344223:K299R	ENSP00000344223:K299R	K	-	2	0	MBTPS1	82682905	1.000000	0.71417	0.984000	0.44739	0.981000	0.71138	4.258000	0.58822	1.031000	0.39867	0.528000	0.53228	AAG		0.423	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		15	83	0	0	0	0	15	83				
FOXC2	2303	broad.mit.edu	37	16	86601587	86601587	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:86601587G>A	ENST00000320354.4	+	1	731	c.646G>A	c.(646-648)Gag>Aag	p.E216K	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	216					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GATCAAGAGCGAGGCGGCGTC	0.756									Late-onset Hereditary Lymphedema																													uc002fjq.2		NA																	0					0						c.(646-648)GAG>AAG		forkhead box C2							4.0	6.0	6.0					16																	86601587		1919	3858	5777	SO:0001583	missense	2303	Late-onset_Hereditary_Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86601587G>A	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.646G>A	16.37:g.86601587G>A	ENSP00000326371:p.Glu216Lys						p.E216K	NM_005251	NP_005242	Q99958	FOXC2_HUMAN			1	731	+			216					C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	37	c.646G>A	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	g	16.65	3.182310	0.57800	.	.	ENSG00000176692	ENST00000320354	D	0.95069	-3.6	4.02	4.02	0.46733	.	40.152100	0.01417	U	0.014238	D	0.92061	0.7484	L	0.51422	1.61	0.44330	D	0.997216	D	0.59767	0.986	B	0.38296	0.27	T	0.81553	-0.0880	10	0.09338	T	0.73	.	14.9461	0.71032	0.0:0.0:1.0:0.0	.	216	Q99958	FOXC2_HUMAN	K	216	ENSP00000326371:E216K	ENSP00000326371:E216K	E	+	1	0	FOXC2	85159088	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	1.853000	0.39358	2.083000	0.62718	0.451000	0.29950	GAG		0.756	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		4	2	0	0	0	0	4	2				
PRPF8	10594	broad.mit.edu	37	17	1586884	1586884	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:1586884C>T	ENST00000572621.1	-	2	477	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	PRPF8_ENST00000304992.6_Missense_Mutation_p.R71Q			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	71					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCCATGGTCTCGAATGATCTT	0.473																																						uc002fte.2		NA																	0				lung(4)|ovary(2)	6						c.(211-213)CGA>CAA		U5 snRNP-specific protein							208.0	178.0	188.0					17																	1586884		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1586884C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.212G>A	17.37:g.1586884C>T	ENSP00000460348:p.Arg71Gln						p.R71Q	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	3	326	-			71					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.212G>A	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	C	35	5.503170	0.96371	.	.	ENSG00000174231	ENST00000304992	T	0.42900	0.96	5.41	5.41	0.78517	Pre-mRNA-processing-splicing factor 8 (2);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	L	0.39147	1.195	0.80722	D	1	P	0.44776	0.843	B	0.40864	0.342	T	0.39143	-0.9628	10	0.62326	D	0.03	.	19.1993	0.93704	0.0:1.0:0.0:0.0	.	71	Q6P2Q9	PRP8_HUMAN	Q	71	ENSP00000304350:R71Q	ENSP00000304350:R71Q	R	-	2	0	PRPF8	1533634	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.262000	0.78410	2.534000	0.85438	0.467000	0.42956	CGA		0.473	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			59	160	0	0	0	0	59	160				
WDR81	124997	broad.mit.edu	37	17	1635682	1635682	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:1635682C>T	ENST00000409644.1	+	5	4221	c.4221C>T	c.(4219-4221)ctC>ctT	p.L1407L	WDR81_ENST00000437219.2_Silent_p.L204L|WDR81_ENST00000545662.1_Silent_p.L38L|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Silent_p.L356L|WDR81_ENST00000446363.1_Silent_p.L46L|WDR81_ENST00000419248.1_Silent_p.L180L	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1407					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCATCGCCCTCATCTGCCTGC	0.597																																						uc002fti.2		NA																	0				skin(1)	1						c.(538-540)CTC>CTT		WD repeat domain 81 isoform 4							93.0	88.0	90.0					17																	1635682		2203	4300	6503	SO:0001819	synonymous_variant	124997							g.chr17:1635682C>T	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4221C>T	17.37:g.1635682C>T						WDR81_uc002fth.2_Silent_p.L356L|WDR81_uc010vqp.1_Silent_p.L204L|WDR81_uc002ftj.2_Silent_p.L1407L|WDR81_uc010vqq.1_Silent_p.L38L	p.L180L	NM_001163811	NP_001157283	Q562E7	WDR81_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	5	801	+			180					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Silent	SNP	ENST00000409644.1	37	c.540C>T	CCDS54062.1																																																																																				0.597	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		52	113	0	0	0	0	52	113				
SMTNL2	342527	broad.mit.edu	37	17	4498466	4498466	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:4498466C>T	ENST00000389313.4	+	5	900	c.833C>T	c.(832-834)tCg>tTg	p.S278L	SMTNL2_ENST00000338859.4_Missense_Mutation_p.S134L	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	278										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		CCACCCCAGTCGCCCGTGTCC	0.677																																						uc002fyf.1		NA																	0					0						c.(832-834)TCG>TTG		smoothelin-like 2 isoform 1							23.0	28.0	26.0					17																	4498466		2203	4299	6502	SO:0001583	missense	342527							g.chr17:4498466C>T	AK124452	CCDS11048.1, CCDS45583.1	17p13.2	2006-04-26			ENSG00000188176	ENSG00000188176			24764	protein-coding gene	gene with protein product							Standard	NM_001114974		Approved	FLJ42461	uc002fyf.1	Q2TAL5	OTTHUMG00000132938	ENST00000389313.4:c.833C>T	17.37:g.4498466C>T	ENSP00000373964:p.Ser278Leu					SMTNL2_uc002fye.2_Missense_Mutation_p.S134L	p.S278L	NM_001114974	NP_001108446	Q2TAL5	SMTL2_HUMAN		READ - Rectum adenocarcinoma(115;0.0325)	5	900	+			278					Q6ZVK6	Missense_Mutation	SNP	ENST00000389313.4	37	c.833C>T	CCDS45583.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637385	0.47049	.	.	ENSG00000188176	ENST00000338859;ENST00000389313	D;D	0.82619	-1.63;-1.62	3.63	3.63	0.41609	.	.	.	.	.	D	0.83303	0.5225	L	0.50333	1.59	0.38373	D	0.944918	D	0.76494	0.999	P	0.56700	0.804	D	0.83966	0.0324	9	0.54805	T	0.06	-14.3094	7.1433	0.25568	0.0:0.8811:0.0:0.1189	.	278	Q2TAL5	SMTL2_HUMAN	L	134;278	ENSP00000345143:S134L;ENSP00000373964:S278L	ENSP00000345143:S134L	S	+	2	0	SMTNL2	4445215	0.033000	0.19621	0.939000	0.37840	0.228000	0.25075	0.184000	0.16939	2.318000	0.78349	0.561000	0.74099	TCG		0.677	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439129.1	NM_198501		15	47	0	0	0	0	15	47				
ZNF232	7775	broad.mit.edu	37	17	5012997	5012997	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:5012997C>G	ENST00000250076.3	-	3	844	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	ZNF232_ENST00000575538.1_Intron|ZNF232_ENST00000575898.1_Missense_Mutation_p.E64Q|AC012146.7_ENST00000571138.1_RNA|AC012146.7_ENST00000413077.1_RNA|ZNF232_ENST00000416429.2_Missense_Mutation_p.E37Q	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	37	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						AGCCTGGTCTCATACTCACAA	0.537																																						uc002gas.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(109-111)GAG>CAG		zinc finger protein 232							201.0	169.0	180.0					17																	5012997		2203	4300	6503	SO:0001583	missense	7775				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:5012997C>G	AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"""-"", ""Zinc fingers, C2H2-type"""	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.190G>C	17.37:g.5012997C>G	ENSP00000250076:p.Glu64Gln					ZNF232_uc002gar.1_Missense_Mutation_p.E64Q|ZNF232_uc002gat.2_Missense_Mutation_p.E64Q|ZNF232_uc010vsv.1_Missense_Mutation_p.E64Q	p.E37Q	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN			3	863	-			37						Missense_Mutation	SNP	ENST00000250076.3	37	c.109G>C	CCDS11068.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664197	0.47572	.	.	ENSG00000167840	ENST00000250076;ENST00000416429	T;T	0.08193	3.12;3.49	3.15	2.18	0.27775	.	0.252547	0.20748	N	0.086407	T	0.04003	0.0112	N	0.08118	0	0.09310	N	1	P;B;P;P	0.48694	0.473;0.402;0.914;0.844	B;B;B;B	0.41174	0.145;0.258;0.229;0.349	T	0.36915	-0.9728	10	0.49607	T	0.09	.	6.2366	0.20766	0.0:0.8622:0.0:0.1378	.	64;37;37;37	B4DNA7;B4DP49;Q9UNY5;Q9UNY5-2	.;.;ZN232_HUMAN;.	Q	64;37	ENSP00000250076:E64Q;ENSP00000416430:E37Q	ENSP00000250076:E64Q	E	-	1	0	ZNF232	4953721	0.004000	0.15560	0.005000	0.12908	0.975000	0.68041	0.689000	0.25437	0.897000	0.36392	0.561000	0.74099	GAG		0.537	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1	NM_014519		29	91	0	0	0	0	29	91				
ZNF594	84622	broad.mit.edu	37	17	5086386	5086386	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:5086386G>C	ENST00000399604.4	-	1	1306	c.1166C>G	c.(1165-1167)tCa>tGa	p.S389*	ZNF594_ENST00000575779.1_Nonsense_Mutation_p.S389*			Q96JF6	ZN594_HUMAN	zinc finger protein 594	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GATGAGGTCTGAGGTGCCCTG	0.438																																						uc010cla.1		NA																	0				ovary(2)|skin(1)	3						c.(1165-1167)TCA>TGA		zinc finger protein 594							196.0	197.0	196.0					17																	5086386		2048	4217	6265	SO:0001587	stop_gained	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5086386G>C	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1166C>G	17.37:g.5086386G>C	ENSP00000382513:p.Ser389*						p.S389*	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN			2	1322	-			389			C2H2-type 10.		Q6RFS0	Nonsense_Mutation	SNP	ENST00000399604.4	37	c.1166C>G	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622891	0.46840	.	.	ENSG00000180626	ENST00000399604	.	.	.	0.505	0.505	0.16953	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	2.851	0.05558	0.3764:0.0:0.6236:0.0	.	.	.	.	X	389	.	ENSP00000382513:S389X	S	-	2	0	ZNF594	5027110	0.000000	0.05858	0.003000	0.11579	0.037000	0.13140	-2.088000	0.01359	0.508000	0.28173	0.313000	0.20887	TCA		0.438	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		162	408	0	0	0	0	162	408				
ZNF594	84622	broad.mit.edu	37	17	5087056	5087056	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:5087056G>C	ENST00000399604.4	-	1	636	c.496C>G	c.(496-498)Caa>Gaa	p.Q166E	ZNF594_ENST00000575779.1_Missense_Mutation_p.Q166E			Q96JF6	ZN594_HUMAN	zinc finger protein 594	166			Q -> H (in dbSNP:rs59197486).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTTGAACTTTGATTAGAGTCT	0.338																																						uc010cla.1		NA																	0				ovary(2)|skin(1)	3						c.(496-498)CAA>GAA		zinc finger protein 594							83.0	85.0	84.0					17																	5087056		1994	4201	6195	SO:0001583	missense	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5087056G>C	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.496C>G	17.37:g.5087056G>C	ENSP00000382513:p.Gln166Glu						p.Q166E	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN			2	652	-			166			C2H2-type 2.		Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	c.496C>G	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	G	1.167	-0.642141	0.03531	.	.	ENSG00000180626	ENST00000399604	T	0.35421	1.31	2.32	2.32	0.28847	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24275	0.0588	L	0.35341	1.055	0.21147	N	0.999773	D	0.63880	0.993	B	0.41666	0.363	T	0.08046	-1.0741	9	0.38643	T	0.18	.	6.2941	0.21077	0.0:0.0:0.7044:0.2955	.	166	Q96JF6	ZN594_HUMAN	E	166	ENSP00000382513:Q166E	ENSP00000382513:Q166E	Q	-	1	0	ZNF594	5027780	0.000000	0.05858	0.788000	0.31933	0.006000	0.05464	-0.184000	0.09698	1.293000	0.44690	0.563000	0.77884	CAA		0.338	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		29	131	0	0	0	0	29	131				
ACADVL	37	broad.mit.edu	37	17	7128359	7128359	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:7128359C>T	ENST00000356839.5	+	20	2090	c.1911C>T	c.(1909-1911)atC>atT	p.I637I	MIR324_ENST00000362183.1_RNA|ACADVL_ENST00000543245.2_Silent_p.I660I|ACADVL_ENST00000350303.5_Silent_p.I615I	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	637					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						TCAAAAGCATCTCCAAGGCCT	0.617																																						uc002gev.2		NA																	0				ovary(3)	3						c.(1909-1911)ATC>ATT		acyl-Coenzyme A dehydrogenase, very long chain							88.0	94.0	92.0					17																	7128359		2203	4300	6503	SO:0001819	synonymous_variant	37				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity	g.chr17:7128359C>T	BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"""acyl-Coenzyme A dehydrogenase, very long chain"""			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.1911C>T	17.37:g.7128359C>T						ACADVL_uc010vtp.1_Silent_p.I647I|ACADVL_uc002gew.2_Silent_p.I615I|ACADVL_uc002gex.2_Silent_p.I561I|uc002gey.1_5'Flank|MIR324_hsa-mir-324|MI0000813_5'Flank	p.I637I	NM_000018	NP_000009	P49748	ACADV_HUMAN			20	2062	+			637					B4DEB6|F5H2A9|O76056|Q8WUL0	Silent	SNP	ENST00000356839.5	37	c.1911C>T	CCDS11090.1																																																																																				0.617	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220001.5	NM_000018		38	142	0	0	0	0	38	142				
C17orf74	201243	broad.mit.edu	37	17	7330205	7330205	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:7330205C>A	ENST00000333870.3	+	3	969	c.895C>A	c.(895-897)Cct>Act	p.P299T	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	299						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GGGGCACAGCCCTTACCCCTC	0.687																																						uc002ggw.2		NA																	0					0						c.(895-897)CCT>ACT		hypothetical protein LOC201243							30.0	31.0	31.0					17																	7330205		2012	4169	6181	SO:0001583	missense	201243					integral to membrane		g.chr17:7330205C>A	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.895C>A	17.37:g.7330205C>A	ENSP00000328061:p.Pro299Thr					FGF11_uc010vtw.1_Intron	p.P299T	NM_175734	NP_783861	Q0P670	CQ074_HUMAN			3	968	+		Prostate(122;0.157)	299						Missense_Mutation	SNP	ENST00000333870.3	37	c.895C>A	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621147	0.28889	.	.	ENSG00000184560	ENST00000333870	T	0.40756	1.02	4.06	-0.509	0.11977	.	0.316889	0.22369	N	0.060979	T	0.27134	0.0665	L	0.29908	0.895	0.22468	N	0.999074	P	0.40731	0.728	B	0.42245	0.381	T	0.14227	-1.0480	10	0.66056	D	0.02	-7.3569	3.6394	0.08161	0.1714:0.5314:0.0:0.2972	.	299	Q0P670	CQ074_HUMAN	T	299	ENSP00000328061:P299T	ENSP00000328061:P299T	P	+	1	0	C17orf74	7270929	0.002000	0.14202	0.552000	0.28243	0.270000	0.26580	0.614000	0.24314	-0.124000	0.11724	0.486000	0.48141	CCT		0.687	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		13	62	1	0	1.52e-12	1.6e-12	13	62				
TP53	7157	broad.mit.edu	37	17	7577556	7577556	+	Missense_Mutation	SNP	C	C	A	rs121912655|rs397516437		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:7577556C>A	ENST00000269305.4	-	7	914	c.725G>T	c.(724-726)tGc>tTc	p.C242F	TP53_ENST00000359597.4_Missense_Mutation_p.C242F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.C242F|TP53_ENST00000420246.2_Missense_Mutation_p.C242F|TP53_ENST00000413465.2_Missense_Mutation_p.C242F|TP53_ENST00000455263.2_Missense_Mutation_p.C242F	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	242	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:16959974}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and 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.C242F(82)|p.C242Y(44)|p.C242S(16)|p.0?(8)|p.C149F(6)|p.?(5)|p.N239_C242delNSSC(3)|p.C149Y(2)|p.C238fs*21(1)|p.C242fs*20(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	GCCGCCCATGCAGGAACTGTT	0.577		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		175	Substitution - Missense(150)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(5)|Deletion - Frameshift(4)|Complex - deletion inframe(1)	p.C242F(63)|p.C242Y(37)|p.C242S(25)|p.C242fs*5(16)|p.C242R(11)|p.C242W(7)|p.0?(7)|p.N239_C242delNSSC(3)|p.C242*(3)|p.C242C(2)|p.C242G(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*98(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241_G245delSCMGG(1)|p.N239_C242del(1)	lung(35)|upper_aerodigestive_tract(22)|liver(16)|oesophagus(15)|large_intestine(13)|breast(12)|central_nervous_system(11)|ovary(11)|urinary_tract(9)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(6)|stomach(5)|bone(5)|endometrium(3)|soft_tissue(1)|eye(1)|thymus(1)|kidney(1)|pancreas(1)|prostate(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	CM910618	TP53	M	rs121912655	c.(724-726)TGC>TTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							140.0	107.0	119.0					17																	7577556		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.chr17:7577556C>A	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.725G>T	17.37:g.7577556C>A	ENSP00000269305:p.Cys242Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.C242F|TP53_uc002gih.2_Missense_Mutation_p.C242F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C110F|TP53_uc010cng.1_Missense_Mutation_p.C110F|TP53_uc002gii.1_Missense_Mutation_p.C110F|TP53_uc010cnh.1_Missense_Mutation_p.C242F|TP53_uc010cni.1_Missense_Mutation_p.C242F|TP53_uc002gij.2_Missense_Mutation_p.C242F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C149F|TP53_uc002gio.2_Missense_Mutation_p.C110F	p.C242F	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	919	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	242		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).	Zinc.	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.725G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366336	0.82463	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99915	-7.99;-7.99;-7.99;-7.99;-7.99;-7.99;-7.99;-7.99	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99930	0.9968	M	0.92784	3.345	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95727	0.8771	10	0.87932	D	0	-27.558	15.3618	0.74483	0.0:1.0:0.0:0.0	.	242;242;149;242;242;242	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	242;242;242;242;242;242;231;149;110;149	ENSP00000410739:C242F;ENSP00000352610:C242F;ENSP00000269305:C242F;ENSP00000398846:C242F;ENSP00000391127:C242F;ENSP00000391478:C242F;ENSP00000425104:C110F;ENSP00000423862:C149F	ENSP00000269305:C242F	C	-	2	0	TP53	7518281	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	TGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		38	46	1	0	1.3e-32	1.41e-32	38	46				
MYH10	4628	broad.mit.edu	37	17	8413181	8413181	+	Missense_Mutation	SNP	C	C	G	rs567899390		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:8413181C>G	ENST00000269243.4	-	23	3084	c.2946G>C	c.(2944-2946)aaG>aaC	p.K982N	MYH10_ENST00000360416.3_Missense_Mutation_p.K1013N|MYH10_ENST00000396239.1_Missense_Mutation_p.K1003N|RNU7-43P_ENST00000516554.1_RNA|MYH10_ENST00000379980.4_Missense_Mutation_p.K998N	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	982					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CCTCTTCCATCTTCTTGATCT	0.448																																						uc002gll.2		NA																	0				ovary(2)	2						c.(2944-2946)AAG>AAC		myosin, heavy polypeptide 10, non-muscle							142.0	135.0	137.0					17																	8413181		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8413181C>G	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2946G>C	17.37:g.8413181C>G	ENSP00000269243:p.Lys982Asn					MYH10_uc002glm.2_Missense_Mutation_p.K1013N|MYH10_uc010cnx.2_Missense_Mutation_p.K991N	p.K982N	NM_005964	NP_005955	P35580	MYH10_HUMAN			23	3042	-			982			Potential.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.2946G>C	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571452	0.65765	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	5.04	1.73	0.24493	.	0.000000	0.85682	D	0.000000	D	0.82421	0.5033	L	0.45422	1.42	0.49687	D	0.999814	P;P;P	0.48694	0.648;0.761;0.914	P;P;P	0.55785	0.558;0.784;0.558	T	0.78476	-0.2189	10	0.02654	T	1	.	10.7007	0.45926	0.0:0.7536:0.0:0.2464	.	991;1013;982	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	N	982;1013;1003;998	ENSP00000269243:K982N;ENSP00000353590:K1013N;ENSP00000379539:K1003N;ENSP00000369315:K998N	ENSP00000269243:K982N	K	-	3	2	MYH10	8353906	0.967000	0.33354	1.000000	0.80357	0.964000	0.63967	0.192000	0.17096	0.664000	0.31047	-0.218000	0.12543	AAG		0.448	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			53	164	0	0	0	0	53	164				
MYH10	4628	broad.mit.edu	37	17	8449949	8449949	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:8449949C>T	ENST00000269243.4	-	11	1299	c.1161G>A	c.(1159-1161)atG>atA	p.M387I	MYH10_ENST00000360416.3_Missense_Mutation_p.M397I|MYH10_ENST00000396239.1_Missense_Mutation_p.M387I|MYH10_ENST00000379980.4_Missense_Mutation_p.M403I|RN7SL129P_ENST00000479993.2_RNA	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	387	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CCATCACATTCATCCCAAGAA	0.428																																						uc002gll.2		NA																	0				ovary(2)	2						c.(1159-1161)ATG>ATA		myosin, heavy polypeptide 10, non-muscle							88.0	80.0	83.0					17																	8449949		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8449949C>T	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.1161G>A	17.37:g.8449949C>T	ENSP00000269243:p.Met387Ile					MYH10_uc002glm.2_Missense_Mutation_p.M397I|MYH10_uc010cnx.2_Missense_Mutation_p.M396I	p.M387I	NM_005964	NP_005955	P35580	MYH10_HUMAN			11	1257	-			387			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.1161G>A	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	9.037	0.988798	0.18966	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	4.94	4.94	0.65067	Myosin head, motor domain (2);	0.039038	0.85682	D	0.000000	T	0.50786	0.1636	N	0.00029	-2.625	0.53005	D	0.999968	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.62253	-0.6893	10	0.13470	T	0.59	.	18.7355	0.91753	0.0:1.0:0.0:0.0	.	396;397;387	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	I	387;397;387;403	ENSP00000269243:M387I;ENSP00000353590:M397I;ENSP00000379539:M387I;ENSP00000369315:M403I	ENSP00000269243:M387I	M	-	3	0	MYH10	8390674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.872000	0.56085	2.726000	0.93360	0.650000	0.86243	ATG		0.428	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			25	62	0	0	0	0	25	62				
MYH10	4628	broad.mit.edu	37	17	8457276	8457276	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:8457276T>C	ENST00000269243.4	-	7	925	c.787A>G	c.(787-789)Aca>Gca	p.T263A	MYH10_ENST00000360416.3_Missense_Mutation_p.T273A|MYH10_ENST00000396239.1_Missense_Mutation_p.T263A|MYH10_ENST00000379980.4_Missense_Mutation_p.T279A	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	263	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AGGATACATGTTTCAATGTTG	0.338																																						uc002gll.2		NA																	0				ovary(2)	2						c.(787-789)ACA>GCA		myosin, heavy polypeptide 10, non-muscle							80.0	85.0	83.0					17																	8457276		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8457276T>C	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.787A>G	17.37:g.8457276T>C	ENSP00000269243:p.Thr263Ala					MYH10_uc002glm.2_Missense_Mutation_p.T273A|MYH10_uc010cnx.2_Missense_Mutation_p.T272A|MYH10_uc010cny.1_RNA	p.T263A	NM_005964	NP_005955	P35580	MYH10_HUMAN			7	883	-			263			Myosin head-like.		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.787A>G	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.337153	0.81911	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	5.55	5.55	0.83447	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.92851	0.7726	H	0.97491	4.015	0.80722	D	1	B;P;B	0.38195	0.178;0.622;0.178	B;B;B	0.40444	0.137;0.329;0.137	D	0.94455	0.7671	10	0.87932	D	0	.	15.8583	0.79000	0.0:0.0:0.0:1.0	.	272;273;263	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	A	263;273;263;279	ENSP00000269243:T263A;ENSP00000353590:T273A;ENSP00000379539:T263A;ENSP00000369315:T279A	ENSP00000269243:T263A	T	-	1	0	MYH10	8398001	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.849000	0.86908	2.326000	0.78906	0.533000	0.62120	ACA		0.338	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			105	96	0	0	0	0	105	96				
MFSD6L	162387	broad.mit.edu	37	17	8700928	8700928	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:8700928C>T	ENST00000329805.4	-	1	1739	c.1511G>A	c.(1510-1512)tGt>tAt	p.C504Y		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	504						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GCCCAGGCTACAGCCACTCCC	0.632																																						uc002glp.1		NA																	0				central_nervous_system(1)	1						c.(1510-1512)TGT>TAT		major facilitator superfamily domain containing							41.0	40.0	40.0					17																	8700928		2203	4300	6503	SO:0001583	missense	162387					integral to membrane		g.chr17:8700928C>T	AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.1511G>A	17.37:g.8700928C>T	ENSP00000330051:p.Cys504Tyr						p.C504Y	NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN			1	1659	-			504			Helical; (Potential).		Q6YL34|Q8NA76	Missense_Mutation	SNP	ENST00000329805.4	37	c.1511G>A	CCDS11146.1	.	.	.	.	.	.	.	.	.	.	C	4.323	0.059285	0.08339	.	.	ENSG00000185156	ENST00000329805	T	0.80393	-1.37	4.89	1.7	0.24286	Major facilitator superfamily domain, general substrate transporter (1);	0.777486	0.10604	N	0.655273	T	0.68778	0.3038	L	0.44542	1.39	0.21950	N	0.999455	B	0.19817	0.039	B	0.18871	0.023	T	0.49844	-0.8896	10	0.02654	T	1	-15.1835	9.6825	0.40078	0.1088:0.2078:0.6833:0.0	.	504	Q8IWD5	MFS6L_HUMAN	Y	504	ENSP00000330051:C504Y	ENSP00000330051:C504Y	C	-	2	0	MFSD6L	8641653	0.003000	0.15002	0.018000	0.16275	0.070000	0.16714	0.713000	0.25794	0.216000	0.20781	-0.312000	0.09012	TGT		0.632	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599		18	28	0	0	0	0	18	28				
MYH13	8735	broad.mit.edu	37	17	10209920	10209920	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:10209920C>G	ENST00000418404.3	-	36	5485	c.5322G>C	c.(5320-5322)aaG>aaC	p.K1774N	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.K1774N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1774					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCTGTTCCTTCTTTAGCTCCT	0.577																																						uc002gmk.1		NA																	0				ovary(4)|skin(2)	6						c.(5320-5322)AAG>AAC		myosin, heavy polypeptide 13, skeletal muscle							92.0	90.0	91.0					17																	10209920		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10209920C>G	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5322G>C	17.37:g.10209920C>G	ENSP00000404570:p.Lys1774Asn						p.K1774N	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			37	5412	-			1774			Potential.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5322G>C	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235735	0.79800	.	.	ENSG00000006788	ENST00000252172	T	0.79247	-1.25	4.35	3.38	0.38709	Myosin tail (1);	.	.	.	.	D	0.87317	0.6147	M	0.83483	2.645	0.42372	D	0.992455	D	0.60575	0.988	D	0.71656	0.974	D	0.89115	0.3499	9	0.87932	D	0	.	13.0932	0.59176	0.0:0.9177:0.0:0.0823	.	1774	Q9UKX3	MYH13_HUMAN	N	1774	ENSP00000252172:K1774N	ENSP00000252172:K1774N	K	-	3	2	MYH13	10150645	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.098000	0.41757	2.417000	0.82017	0.591000	0.81541	AAG		0.577	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		53	126	0	0	0	0	53	126				
MYH4	4622	broad.mit.edu	37	17	10358497	10358497	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:10358497G>C	ENST00000255381.2	-	20	2400	c.2290C>G	c.(2290-2292)Cat>Gat	p.H764D	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	764	Actin-binding. {ECO:0000250}.|Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ACCTTGGTATGACCGAATTTG	0.383																																						uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(2290-2292)CAT>GAT		myosin, heavy polypeptide 4, skeletal muscle							117.0	109.0	112.0					17																	10358497		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10358497G>C		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2290C>G	17.37:g.10358497G>C	ENSP00000255381:p.His764Asp					uc002gml.1_Intron	p.H764D	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			20	2401	-			764			Myosin head-like.|Actin-binding (By similarity).			Missense_Mutation	SNP	ENST00000255381.2	37	c.2290C>G	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676598	0.47886	.	.	ENSG00000141048	ENST00000255381	D	0.86366	-2.11	5.22	5.22	0.72569	Myosin head, motor domain (2);	0.000000	0.38837	U	0.001543	D	0.92655	0.7666	H	0.94734	3.575	0.80722	D	1	B	0.19445	0.036	B	0.33960	0.173	D	0.91436	0.5170	10	0.56958	D	0.05	.	19.1318	0.93410	0.0:0.0:1.0:0.0	.	764	Q9Y623	MYH4_HUMAN	D	764	ENSP00000255381:H764D	ENSP00000255381:H764D	H	-	1	0	MYH4	10299222	1.000000	0.71417	0.996000	0.52242	0.707000	0.40811	7.811000	0.86092	2.600000	0.87896	0.313000	0.20887	CAT		0.383	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		3	151	0	0	0	0	3	151				
MYH1	4619	broad.mit.edu	37	17	10415430	10415430	+	Silent	SNP	G	G	A	rs556155732	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:10415430G>A	ENST00000226207.5	-	13	1321	c.1227C>T	c.(1225-1227)gtC>gtT	p.V409V	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	409	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ACTCATTGCCGACCTTGACCC	0.458													g|||	2	0.000399361	0.0	0.0	5008	,	,		22002	0.001		0.0	False		,,,				2504	0.001					uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(1225-1227)GTC>GTT		myosin, heavy chain 1, skeletal muscle, adult							305.0	271.0	282.0					17																	10415430		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10415430G>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1227C>T	17.37:g.10415430G>A						uc002gml.1_Intron	p.V409V	NM_005963	NP_005954	P12882	MYH1_HUMAN			13	1321	-			409			Myosin head-like.		Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.1227C>T	CCDS11155.1																																																																																				0.458	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		133	321	0	0	0	0	133	321				
MYH2	4620	broad.mit.edu	37	17	10428570	10428570	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:10428570C>G	ENST00000245503.5	-	33	5017	c.4633G>C	c.(4633-4635)Gaa>Caa	p.E1545Q	MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1545Q	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1545					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCCTGAAGTTCACACTTTTCT	0.363																																						uc010coi.2		NA																	0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(4633-4635)GAA>CAA		myosin heavy chain IIa							126.0	120.0	122.0					17																	10428570		2203	4299	6502	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10428570C>G		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4633G>C	17.37:g.10428570C>G	ENSP00000245503:p.Glu1545Gln					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E1545Q|MYH2_uc010coj.2_Intron	p.E1545Q	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			33	4761	-			1545			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.4633G>C	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.945195	0.92593	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.82081	-1.57;-1.57	5.2	5.2	0.72013	Myosin tail (1);	0.000000	0.40064	U	0.001191	D	0.93426	0.7903	H	0.95114	3.625	0.58432	D	0.999997	B	0.27380	0.177	P	0.48795	0.59	D	0.93177	0.6571	10	0.72032	D	0.01	.	18.9276	0.92552	0.0:1.0:0.0:0.0	.	1545	Q9UKX2	MYH2_HUMAN	Q	1545	ENSP00000245503:E1545Q;ENSP00000380367:E1545Q	ENSP00000245503:E1545Q	E	-	1	0	MYH2	10369295	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.630000	0.83225	2.713000	0.92767	0.591000	0.81541	GAA		0.363	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		35	152	0	0	0	0	35	152				
MYH2	4620	broad.mit.edu	37	17	10441071	10441071	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:10441071C>G	ENST00000245503.5	-	15	1882	c.1498G>C	c.(1498-1500)Gag>Cag	p.E500Q	MYH2_ENST00000532183.2_Missense_Mutation_p.E500Q|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E500Q	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	500	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCCTCCTGCTCCAGCACGAAC	0.483																																						uc010coi.2		NA																	0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(1498-1500)GAG>CAG		myosin heavy chain IIa							171.0	145.0	154.0					17																	10441071		2203	4298	6501	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10441071C>G		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1498G>C	17.37:g.10441071C>G	ENSP00000245503:p.Glu500Gln					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E500Q|MYH2_uc010coj.2_Missense_Mutation_p.E500Q	p.E500Q	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			15	1626	-			500			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.1498G>C	CCDS11156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.260246|5.260246	0.95368|0.95368	.|.	.|.	ENSG00000125414|ENSG00000214970	ENST00000532183;ENST00000245503;ENST00000397183|ENST00000399342	D;D;D|.	0.92595|.	-3.07;-3.07;-3.07|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Myosin head, motor domain (2);|.	0.000000|.	0.39475|.	U|.	0.001356|.	D|D	0.86522|0.86522	0.5953|0.5953	M|M	0.92923|0.92923	3.36|3.36	0.58432|0.58432	D|D	0.999999|0.999999	D;P|.	0.67145|.	0.996;0.453|.	D;P|.	0.85130|.	0.997;0.702|.	D|D	0.89491|0.89491	0.3757|0.3757	10|6	0.87932|0.87932	D|D	0|0	.|.	18.4152|18.4152	0.90567|0.90567	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	500;500|.	Q567P6;Q9UKX2|.	.;MYH2_HUMAN|.	Q|C	500|48	ENSP00000433944:E500Q;ENSP00000245503:E500Q;ENSP00000380367:E500Q|.	ENSP00000245503:E500Q|ENSP00000382280:S48C	E|S	-|+	1|2	0|0	MYH2|AC005323.1	10381796|10381796	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.783000|7.783000	0.85696|0.85696	2.603000|2.603000	0.88011|0.88011	0.655000|0.655000	0.94253|0.94253	GAG|TCC		0.483	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		82	196	0	0	0	0	82	196				
DNAH9	1770	broad.mit.edu	37	17	11631206	11631206	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:11631206C>T	ENST00000262442.4	+	28	5849	c.5781C>T	c.(5779-5781)atC>atT	p.I1927I	DNAH9_ENST00000454412.2_Silent_p.I1927I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1927	AAA 1. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTAATCGAATCTCCGTGGAGG	0.478																																						uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(5779-5781)ATC>ATT		dynein, axonemal, heavy chain 9 isoform 2							132.0	118.0	123.0					17																	11631206		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11631206C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.5781C>T	17.37:g.11631206C>T						DNAH9_uc010coo.2_Silent_p.I1221I	p.I1927I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	28	5849	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1927			AAA 1 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.5781C>T	CCDS11160.1																																																																																				0.478	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		23	69	0	0	0	0	23	69				
DNAH9	1770	broad.mit.edu	37	17	11835355	11835355	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:11835355G>T	ENST00000262442.4	+	64	12198	c.12130G>T	c.(12130-12132)Gag>Tag	p.E4044*	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E3968*|DNAH9_ENST00000608377.1_Nonsense_Mutation_p.E356*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4044	AAA 6. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGTTCTCGGGAGACGGAGTT	0.498																																						uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(12130-12132)GAG>TAG		dynein, axonemal, heavy chain 9 isoform 2							341.0	318.0	325.0					17																	11835355		2203	4300	6503	SO:0001587	stop_gained	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11835355G>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12130G>T	17.37:g.11835355G>T	ENSP00000262442:p.Glu4044*					DNAH9_uc010coo.2_Nonsense_Mutation_p.E3262*|DNAH9_uc002gnf.2_Nonsense_Mutation_p.E356*	p.E4044*	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	64	12198	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4044			AAA 6 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	ENST00000262442.4	37	c.12130G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	53	20.729534	0.99933	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	.	.	.	4.96	4.96	0.65561	.	0.053416	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.4116	0.90554	0.0:0.0:1.0:0.0	.	.	.	.	X	4044;3968;2550;356	.	ENSP00000262442:E4044X	E	+	1	0	DNAH9	11776080	1.000000	0.71417	0.980000	0.43619	0.480000	0.33159	9.601000	0.98297	2.564000	0.86499	0.563000	0.77884	GAG		0.498	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		119	385	1	0	1.74e-63	1.89e-63	119	385				
MYOCD	93649	broad.mit.edu	37	17	12666707	12666707	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:12666707G>A	ENST00000343344.4	+	13	2563	c.2563G>A	c.(2563-2565)Gag>Aag	p.E855K	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000425538.1_Missense_Mutation_p.E903K			Q8IZQ8	MYCD_HUMAN	myocardin	855					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)	p.E903K(1)|p.E855K(1)		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)		CAATGCACATGAGATCTTGCC	0.498																																						uc002gnn.2		NA																	2	Substitution - Missense(2)		urinary_tract(2)	central_nervous_system(2)|skin(2)|ovary(1)	5						c.(2563-2565)GAG>AAG		myocardin isoform 2							86.0	72.0	76.0					17																	12666707		2203	4300	6503	SO:0001583	missense	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.chr17:12666707G>A	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.2563G>A	17.37:g.12666707G>A	ENSP00000341835:p.Glu855Lys					MYOCD_uc002gno.2_Missense_Mutation_p.E903K|MYOCD_uc002gnq.2_Missense_Mutation_p.E579K	p.E855K	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	13	2862	+			855					Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.2563G>A	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420003	0.62622	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000443061	T;T	0.44881	0.91;0.92	6.08	6.08	0.98989	.	0.109045	0.64402	D	0.000007	T	0.61540	0.2355	L	0.60455	1.87	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.991	D;D;P	0.65987	0.917;0.94;0.828	T	0.54938	-0.8218	10	0.41790	T	0.15	-44.6195	19.4349	0.94788	0.0:0.0:1.0:0.0	.	579;903;855	E9PEP9;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	K	579;903;855;565	ENSP00000341835:E855K;ENSP00000400148:E565K	ENSP00000341835:E855K	E	+	1	0	MYOCD	12607432	1.000000	0.71417	0.799000	0.32177	0.353000	0.29299	6.716000	0.74702	2.894000	0.99253	0.655000	0.94253	GAG		0.498	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		23	66	0	0	0	0	23	66				
MPRIP	23164	broad.mit.edu	37	17	17062051	17062051	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:17062051A>T	ENST00000341712.4	+	14	1781	c.1781A>T	c.(1780-1782)aAg>aTg	p.K594M	MPRIP_ENST00000395811.5_Missense_Mutation_p.K594M|MPRIP_ENST00000395804.3_Missense_Mutation_p.K594M|MPRIP_ENST00000444976.1_Missense_Mutation_p.K556M			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	594	Interaction with RHOA.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.R587_G597delRRREERRKRFG(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GAGCGCCGCAAGCGCTTCGGG	0.731																																						uc002gqu.1		NA																	1	Deletion - In frame(1)		ovary(1)		0						c.(1780-1782)AAG>ATG		myosin phosphatase-Rho interacting protein							24.0	27.0	26.0					17																	17062051		2198	4289	6487	SO:0001583	missense	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17062051A>T	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.1781A>T	17.37:g.17062051A>T	ENSP00000342379:p.Lys594Met					MPRIP_uc002gqv.1_Missense_Mutation_p.K594M|MPRIP_uc002gqw.1_Missense_Mutation_p.K349M	p.K594M	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN			14	1837	+			594			Interaction with RHOA.		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	c.1781A>T	CCDS32578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.1|20.1	3.937347|3.937347	0.73557|0.73557	.|.	.|.	ENSG00000133030|ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712|ENST00000423885	T;T;T;T|.	0.29655|.	1.56;1.88;1.89;1.89|.	5.19|5.19	2.81|2.81	0.32909|0.32909	.|.	.|.	.|.	.|.	.|.	T|T	0.64907|0.64907	0.2641|0.2641	M|M	0.76574|0.76574	2.34|2.34	0.37637|0.37637	D|D	0.921887|0.921887	D;P|.	0.57571|.	0.98;0.8|.	P;B|.	0.60682|.	0.878;0.201|.	T|T	0.64639|0.64639	-0.6360|-0.6360	9|5	0.72032|.	D|.	0.01|.	.|.	8.6018|8.6018	0.33749|0.33749	0.8253:0.0:0.1747:0.0|0.8253:0.0:0.1747:0.0	.|.	594;594|.	Q6WCQ1-2;Q6WCQ1|.	.;MPRIP_HUMAN|.	M|C	556;594;594;594|81	ENSP00000400189:K556M;ENSP00000379156:K594M;ENSP00000379149:K594M;ENSP00000342379:K594M|.	ENSP00000342379:K594M|.	K|S	+|+	2|1	0|0	MPRIP|MPRIP	17002776|17002776	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.863000|0.863000	0.49368|0.49368	2.144000|2.144000	0.42197|0.42197	0.255000|0.255000	0.21593|0.21593	0.374000|0.374000	0.22700|0.22700	AAG|AGC		0.731	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		18	41	0	0	0	0	18	41				
MYO15A	51168	broad.mit.edu	37	17	18077224	18077224	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:18077224C>A	ENST00000205890.5	+	65	10818	c.10480C>A	c.(10480-10482)Cag>Aag	p.Q3494K	RP11-258F1.1_ENST00000583062.1_RNA|RP11-258F1.1_ENST00000577847.1_RNA|MYO15A_ENST00000418233.3_Missense_Mutation_p.Q758K|MYO15A_ENST00000451725.2_Intron	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3494	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTTGCAGCTGCAGCTGGAGCA	0.662																																						uc010vxh.1		NA																	0				skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(10480-10482)CAG>AAG		myosin XV							18.0	20.0	20.0					17																	18077224		1951	4130	6081	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18077224C>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.10480C>A	17.37:g.18077224C>A	ENSP00000205890:p.Gln3494Lys					MYO15A_uc010vxi.1_Missense_Mutation_p.Q758K|MYO15A_uc002gsl.2_Missense_Mutation_p.A526E|MYO15A_uc010vxm.1_Intron|MYO15A_uc010cpv.2_Intron	p.Q3494K	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			64	10818	+	all_neural(463;0.228)		3494			Tail.|FERM.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.10480C>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370129	0.61624	.	.	ENSG00000091536	ENST00000205890	D	0.88124	-2.34	5.75	5.75	0.90469	FERM domain (1);	.	.	.	.	D	0.93690	0.7984	M	0.78049	2.395	0.80722	D	1	P;D	0.69078	0.774;0.997	P;D	0.77004	0.519;0.989	D	0.93397	0.6757	9	0.56958	D	0.05	.	19.5551	0.95342	0.0:1.0:0.0:0.0	.	758;3494	B4DFC7;Q9UKN7	.;MYO15_HUMAN	K	3494	ENSP00000205890:Q3494K	ENSP00000205890:Q3494K	Q	+	1	0	MYO15A	18017949	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.553000	0.82203	2.719000	0.93026	0.655000	0.94253	CAG		0.662	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		17	35	1	0	9.77e-05	0.000100085	17	35				
LGALS9C	654346	broad.mit.edu	37	17	18396112	18396112	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:18396112G>T	ENST00000328114.6	+	10	944	c.863G>T	c.(862-864)tGg>tTg	p.W288L	LGALS9C_ENST00000412421.2_Missense_Mutation_p.W200L|LGALS9C_ENST00000581545.1_Intron|LGALS9C_ENST00000584941.1_Intron|LGALS9C_ENST00000583322.1_Missense_Mutation_p.W255L	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	288	Beta-galactoside binding 2. {ECO:0000250}.|Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						AACAACTCTTGGGGGTCTGAG	0.572																																						uc002gtw.2		NA																	0				ovary(1)	1						c.(862-864)TGG>TTG		galectin 9 like							43.0	27.0	32.0					17																	18396112		2187	4135	6322	SO:0001583	missense	654346						sugar binding	g.chr17:18396112G>T		CCDS32587.1	17p11.2	2011-08-04			ENSG00000171916	ENSG00000171916		"""Lectins, galactoside-binding"""	33874	protein-coding gene	gene with protein product							Standard	NM_001040078		Approved		uc002gtw.3	Q6DKI2	OTTHUMG00000059251	ENST00000328114.6:c.863G>T	17.37:g.18396112G>T	ENSP00000329932:p.Trp288Leu					LGALS9C_uc010vyb.1_Missense_Mutation_p.W200L	p.W288L	NM_001040078	NP_001035167	Q6DKI2	LEG9C_HUMAN			10	933	+			288			Galectin 2.|Beta-galactoside binding 2 (By similarity).		B0AZM7	Missense_Mutation	SNP	ENST00000328114.6	37	c.863G>T	CCDS32587.1	.	.	.	.	.	.	.	.	.	.	g	15.64	2.894166	0.52121	.	.	ENSG00000171916	ENST00000412421;ENST00000328114	T;T	0.66280	-0.2;-0.2	2.26	2.26	0.28386	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.85017	0.5601	H	0.98507	4.25	0.50813	D	0.999898	D	0.89917	1.0	D	0.91635	0.999	D	0.88461	0.3055	10	0.87932	D	0	.	10.6469	0.45626	0.0:0.0:1.0:0.0	.	288	Q6DKI2	LEG9C_HUMAN	L	200;288	ENSP00000390286:W200L;ENSP00000329932:W288L	ENSP00000329932:W288L	W	+	2	0	LGALS9C	18336837	1.000000	0.71417	0.851000	0.33527	0.542000	0.35054	6.994000	0.76251	1.578000	0.49821	0.184000	0.17185	TGG		0.572	LGALS9C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000131456.2	NM_001040078		3	63	1	0	0.00010058	0.000103042	3	63				
SLC47A1	55244	broad.mit.edu	37	17	19470501	19470501	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:19470501C>T	ENST00000270570.4	+	14	1355	c.1269C>T	c.(1267-1269)atC>atT	p.I423I	SLC47A1_ENST00000436810.2_Silent_p.I400I|SLC47A1_ENST00000571335.1_Silent_p.I228I|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000457293.1_Silent_p.I423I|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000395585.1_Silent_p.I423I	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	423					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	GCCTCCCCATCGGGATCGCGC	0.557																																						uc002gvy.1		NA																	0					0						c.(1267-1269)ATC>ATT		solute carrier family 47, member 1							297.0	238.0	258.0					17																	19470501		2203	4300	6503	SO:0001819	synonymous_variant	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19470501C>T		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.1269C>T	17.37:g.19470501C>T						SLC47A1_uc002gvx.2_Silent_p.I423I|SLC47A1_uc010vyz.1_Silent_p.I400I|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Silent_p.I228I|SLC47A1_uc010vza.1_Silent_p.I135I|SLC47A1_uc010vzb.1_Silent_p.I157I|SLC47A1_uc010vzc.1_Silent_p.I95I	p.I423I	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN			14	1355	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		423			Helical; (Potential).		Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Silent	SNP	ENST00000270570.4	37	c.1269C>T	CCDS11209.1																																																																																				0.557	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		90	198	0	0	0	0	90	198				
LGALS9B	284194	broad.mit.edu	37	17	20354855	20354855	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:20354855C>A	ENST00000423676.3	-	10	926	c.863G>T	c.(862-864)tGg>tTg	p.W288L	LGALS9B_ENST00000324290.5_Missense_Mutation_p.W287L			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	288	Beta-galactoside binding 2. {ECO:0000250}.|Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						CTCAGACCCCCAAGAGTTGTT	0.572																																						uc002gxa.1		NA																	0				skin(1)	1						c.(862-864)TGG>TTG		galectin-9 like							9.0	14.0	13.0					17																	20354855		2125	4226	6351	SO:0001583	missense	284194						sugar binding	g.chr17:20354855C>A		CCDS42283.1	17p11.2	2011-08-04			ENSG00000170298	ENSG00000170298		"""Lectins, galactoside-binding"""	24842	protein-coding gene	gene with protein product						11997339	Standard	NM_001042685		Approved		uc002gwz.1	Q3B8N2	OTTHUMG00000130730	ENST00000423676.3:c.863G>T	17.37:g.20354855C>A	ENSP00000388841:p.Trp288Leu					LGALS9B_uc002gwz.1_Missense_Mutation_p.W287L|LGALS9B_uc010vzh.1_Missense_Mutation_p.W200L	p.W288L	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN			10	928	-			288			Galectin 2.|Beta-galactoside binding 2 (By similarity).		A6NLF8|A8K2J8	Missense_Mutation	SNP	ENST00000423676.3	37	c.863G>T		.	.	.	.	.	.	.	.	.	.	C	15.62	2.887983	0.52014	.	.	ENSG00000170298	ENST00000423676;ENST00000324290	.	.	.	1.97	1.97	0.26223	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.86727	0.6002	H	0.98507	4.25	0.49299	D	0.999771	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.88940	0.3379	9	0.87932	D	0	.	10.0176	0.42024	0.0:1.0:0.0:0.0	.	288;287	Q3B8N2;Q3B8N2-2	LEG9B_HUMAN;.	L	287;288	.	ENSP00000315564:W288L	W	-	2	0	LGALS9B	20295447	1.000000	0.71417	0.923000	0.36655	0.558000	0.35554	5.479000	0.66813	1.434000	0.47414	0.194000	0.17425	TGG		0.572	LGALS9B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000253230.2	NM_001042685		20	53	1	0	4.32e-19	4.6e-19	20	53				
KCNJ12	3768	broad.mit.edu	37	17	21319636	21319636	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:21319636G>C	ENST00000583088.1	+	3	1877	c.982G>C	c.(982-984)Gag>Cag	p.E328Q	KCNJ12_ENST00000331718.5_Missense_Mutation_p.E328Q	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	328					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TCACCGCTTTGAGCCCGTGCT	0.592										Prostate(3;0.18)																												uc002gyv.1		NA																	0				ovary(3)|skin(1)	4						c.(982-984)GAG>CAG		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						144.0	146.0	145.0					17																	21319636		2203	4300	6503	SO:0001583	missense	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21319636G>C	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.982G>C	17.37:g.21319636G>C	ENSP00000463778:p.Glu328Gln	Prostate(3;0.18)					p.E328Q	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1687	+			328			Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.982G>C	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905159	0.72868	.	.	ENSG00000184185	ENST00000331718	D	0.91792	-2.91	5.63	5.63	0.86233	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.93318	0.7870	M	0.72894	2.215	0.80722	D	1	P	0.47302	0.893	P	0.46718	0.525	D	0.92962	0.6390	10	0.46703	T	0.11	.	19.6736	0.95921	0.0:0.0:1.0:0.0	.	328	Q14500	IRK12_HUMAN	Q	328	ENSP00000328150:E328Q	ENSP00000328150:E328Q	E	+	1	0	KCNJ12	21260229	1.000000	0.71417	0.907000	0.35723	0.878000	0.50629	9.698000	0.98700	2.664000	0.90586	0.561000	0.74099	GAG		0.592	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		23	188	0	0	0	0	23	188				
NOS2	4843	broad.mit.edu	37	17	26114705	26114705	+	Splice_Site	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:26114705C>G	ENST00000313735.6	-	5	699	c.466G>C	c.(466-468)Gag>Cag	p.E156Q		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	156					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	AAGCCTTACTCTTTGAAGGAG	0.517																																						uc002gzu.2		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(466-468)GAG>CAG		nitric oxide synthase 2A	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						112.0	117.0	115.0					17																	26114705		2203	4300	6503	SO:0001630	splice_region_variant	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26114705C>G	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.467+1G>C	17.37:g.26114705C>G						NOS2_uc010crh.1_Missense_Mutation_p.E156Q|NOS2_uc010wab.1_Missense_Mutation_p.E156Q	p.E156Q	NM_000625	NP_000616	P35228	NOS2_HUMAN			5	730	-			156					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.466G>C	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719163	0.68844	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.22539	1.95	5.64	5.64	0.86602	Nitric oxide synthase, oxygenase domain (3);	0.226336	0.40222	N	0.001145	T	0.26448	0.0646	L	0.43923	1.385	0.41745	D	0.98963	B;B	0.31910	0.013;0.346	B;B	0.36959	0.006;0.237	T	0.03717	-1.1010	10	0.72032	D	0.01	.	18.6964	0.91603	0.0:1.0:0.0:0.0	.	156;156	F8WEM3;P35228	.;NOS2_HUMAN	Q	156	ENSP00000327251:E156Q	ENSP00000305638:E156Q	E	-	1	0	NOS2	23138832	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.344000	0.59354	2.676000	0.91093	0.557000	0.71058	GAG		0.517	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625	Missense_Mutation	47	118	0	0	0	0	47	118				
SUPT6H	6830	broad.mit.edu	37	17	27001330	27001330	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:27001330G>T	ENST00000314616.6	+	3	422	c.139G>T	c.(139-141)Gat>Tat	p.D47Y	AC010761.13_ENST00000578819.1_RNA|SUPT6H_ENST00000347486.4_Missense_Mutation_p.D47Y	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	47	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GAACCTAGATGATCAGGATGA	0.468																																						uc002hby.2		NA																	0				ovary(2)|skin(1)	3						c.(139-141)GAT>TAT		suppressor of Ty 6 homolog							142.0	109.0	120.0					17																	27001330		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27001330G>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.139G>T	17.37:g.27001330G>T	ENSP00000319104:p.Asp47Tyr					SUPT6H_uc010crt.2_Missense_Mutation_p.D47Y	p.D47Y	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN			3	229	+	Lung NSC(42;0.00431)		47			Asp/Glu-rich.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.139G>T	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.412198	0.42817	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.92	5.92	0.95590	.	0.049567	0.85682	D	0.000000	T	0.50034	0.1592	N	0.08118	0	0.80722	D	1	D	0.58970	0.984	P	0.54372	0.75	T	0.58047	-0.7705	9	0.56958	D	0.05	-23.1177	20.3214	0.98679	0.0:0.0:1.0:0.0	.	47	Q7KZ85	SPT6H_HUMAN	Y	47	.	ENSP00000319104:D47Y	D	+	1	0	SUPT6H	24025457	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.434000	0.97515	2.804000	0.96469	0.655000	0.94253	GAT		0.468	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		17	53	1	0	1.37e-15	1.46e-15	17	53				
TAOK1	57551	broad.mit.edu	37	17	27809270	27809270	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:27809270G>C	ENST00000261716.3	+	8	1138	c.619G>C	c.(619-621)Gat>Cat	p.D207H	TAOK1_ENST00000536202.1_Missense_Mutation_p.D207H	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TGGCAAAGTAGATGTGTGGTC	0.313																																						uc002hdz.1		NA																	0				upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(619-621)GAT>CAT		TAO kinase 1							185.0	167.0	173.0					17																	27809270		2203	4299	6502	SO:0001583	missense	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27809270G>C	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.619G>C	17.37:g.27809270G>C	ENSP00000261716:p.Asp207His					TAOK1_uc010wbe.1_Missense_Mutation_p.D207H|TAOK1_uc010wbf.1_Missense_Mutation_p.D207H|TAOK1_uc002heb.1_Missense_Mutation_p.D33H	p.D207H	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		8	813	+			207			Protein kinase.		A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	c.619G>C	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912557	0.92178	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	D;T	0.86030	-2.06;-0.96	5.49	5.49	0.81192	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96620	0.8897	H	0.99800	4.79	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.999;0.978;1.0	D	0.98678	1.0691	10	0.87932	D	0	.	19.3752	0.94505	0.0:0.0:1.0:0.0	.	207;33;207	B7ZLV6;Q7L7X3-2;Q7L7X3	.;.;TAOK1_HUMAN	H	207	ENSP00000261716:D207H;ENSP00000438819:D207H	ENSP00000261716:D207H	D	+	1	0	TAOK1	24833396	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.771000	0.98977	2.576000	0.86940	0.591000	0.81541	GAT		0.313	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		7	183	0	0	0	0	7	183				
CCT6B	10693	broad.mit.edu	37	17	33266221	33266221	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:33266221G>C	ENST00000314144.5	-	10	1309	c.1194C>G	c.(1192-1194)atC>atG	p.I398M	CCT6B_ENST00000436961.3_Missense_Mutation_p.I353M|CCT6B_ENST00000421975.3_Missense_Mutation_p.I361M	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	398					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TGGCATTTTTGATAGCACGAA	0.363																																						uc002hig.2		NA																	0				pancreas(1)	1						c.(1192-1194)ATC>ATG		chaperonin containing TCP1, subunit 6B							249.0	215.0	226.0					17																	33266221		2203	4300	6503	SO:0001583	missense	10693				chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding	g.chr17:33266221G>C	D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"""Heat Shock Proteins / Chaperonins"""	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.1194C>G	17.37:g.33266221G>C	ENSP00000327191:p.Ile398Met					CCT6B_uc010ctg.2_Missense_Mutation_p.I361M|CCT6B_uc010wcc.1_Missense_Mutation_p.I353M	p.I398M	NM_006584	NP_006575	Q92526	TCPW_HUMAN			10	1288	-		Ovarian(249;0.17)	398					B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	ENST00000314144.5	37	c.1194C>G	CCDS32617.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.442398	0.25987	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	T;T;T	0.78816	-1.21;-1.21;-1.21	4.47	3.49	0.39957	.	0.299915	0.37530	N	0.002056	T	0.78194	0.4245	M	0.83384	2.64	0.29958	N	0.819626	B;B;B	0.33857	0.059;0.429;0.273	B;B;B	0.39339	0.297;0.201;0.201	T	0.77683	-0.2496	10	0.87932	D	0	-0.6831	5.5772	0.17231	0.1022:0.0:0.7024:0.1954	.	353;361;398	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	M	361;398;353	ENSP00000398044:I361M;ENSP00000327191:I398M;ENSP00000400917:I353M	ENSP00000327191:I398M	I	-	3	3	CCT6B	30290334	1.000000	0.71417	0.905000	0.35620	0.763000	0.43281	1.175000	0.31944	1.230000	0.43646	0.557000	0.71058	ATC		0.363	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448014.1	NM_006584		7	281	0	0	0	0	7	281				
AP2B1	163	broad.mit.edu	37	17	33951593	33951593	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:33951593C>T	ENST00000262325.7	+	6	1256	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	AP2B1_ENST00000537622.2_Missense_Mutation_p.R235W|AP2B1_ENST00000592545.1_Missense_Mutation_p.R197W|AP2B1_ENST00000538556.1_Missense_Mutation_p.R178W|AP2B1_ENST00000312678.8_Missense_Mutation_p.R235W|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000589344.1_Missense_Mutation_p.R235W	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	235					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TAAAGATGATCGGGAGGCTCA	0.448																																						uc002hjr.2		NA																	0				ovary(1)	1						c.(703-705)CGG>TGG		adaptor-related protein complex 2, beta 1							73.0	70.0	71.0					17																	33951593		2203	4300	6503	SO:0001583	missense	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:33951593C>T	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.703C>T	17.37:g.33951593C>T	ENSP00000262325:p.Arg235Trp					AP2B1_uc002hjq.2_Missense_Mutation_p.R235W|AP2B1_uc010wci.1_Missense_Mutation_p.R197W|AP2B1_uc002hjs.2_Missense_Mutation_p.R178W|AP2B1_uc002hjt.2_Missense_Mutation_p.R235W|AP2B1_uc010ctv.2_Missense_Mutation_p.R235W|AP2B1_uc010wcj.1_5'UTR	p.R235W	NM_001282	NP_001273	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	6	892	+		Ovarian(249;0.17)	235					A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.703C>T	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308610	0.81247	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	5.82	5.82	0.92795	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40979	0.1139	M	0.87682	2.9	0.80722	D	1	D;D;D	0.76494	0.957;0.972;0.999	P;P;D	0.64410	0.49;0.543;0.925	T	0.37798	-0.9690	10	0.87932	D	0	-11.0094	13.98	0.64299	0.1512:0.8487:0.0:0.0	.	197;235;235	B4DWG4;P63010;P63010-2	.;AP2B1_HUMAN;.	W	235;235;178;235	ENSP00000262325:R235W;ENSP00000314414:R235W;ENSP00000440563:R178W;ENSP00000437413:R235W	ENSP00000262325:R235W	R	+	1	2	AP2B1	30975706	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.657000	0.61490	2.767000	0.95098	0.655000	0.94253	CGG		0.448	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			28	99	0	0	0	0	28	99				
TBC1D3B	414059	broad.mit.edu	37	17	34499237	34499237	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:34499237G>A	ENST00000454519.3	-	7	623	c.474C>T	c.(472-474)ttC>ttT	p.F158F	CTB-91J4.1_ENST00000592460.1_RNA|TBC1D3B_ENST00000398801.3_Silent_p.F158F	NM_001001417.5	NP_001001417.5	A6NDS4	TBC3B_HUMAN	TBC1 domain family, member 3B	158	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GATCCCTGAAGAACATATGCT	0.567																																						uc002hky.2		NA																	0					0						c.(472-474)TTC>TTT		TBC1 domain family, member 3B							78.0	60.0	66.0					17																	34499237		2138	4143	6281	SO:0001819	synonymous_variant	414059					intracellular	Rab GTPase activator activity	g.chr17:34499237G>A	AF540953	CCDS42300.1	17q12	2014-09-16				ENSG00000274226			27011	protein-coding gene	gene with protein product		610144	"""TBC1 domain family, member 3I"""	TBC1D3I		12359748, 16863688	Standard	XM_005257980		Approved	PRC17	uc002hky.2	A6NDS4	OTTHUMG00000188417	ENST00000454519.3:c.474C>T	17.37:g.34499237G>A						uc002hla.1_5'Flank|uc002hlc.2_5'Flank	p.F158F	NM_001001417	NP_001001417	Q8IZP1	TBC3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	7	624	-		Breast(25;0.102)|Ovarian(249;0.17)	158			Rab-GAP TBC.		A8K892	Silent	SNP	ENST00000454519.3	37	c.474C>T	CCDS42300.1																																																																																				0.567	TBC1D3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256087.3	NM_001001417		43	509	0	0	0	0	43	509				
GGNBP2	79893	broad.mit.edu	37	17	34942500	34942500	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:34942500C>T	ENST00000304718.4	+	12	1829	c.1513C>T	c.(1513-1515)Cac>Tac	p.H505Y		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	505					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TTGTGTTCATCACTGTGAAGA	0.353																																						uc002hnb.2		NA																	0				ovary(2)	2						c.(1513-1515)CAC>TAC		zinc finger protein 403							138.0	145.0	143.0					17																	34942500		2203	4300	6503	SO:0001583	missense	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34942500C>T	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.1513C>T	17.37:g.34942500C>T	ENSP00000307617:p.His505Tyr					GGNBP2_uc002hna.2_3'UTR|GGNBP2_uc002hnc.1_Missense_Mutation_p.H334Y	p.H505Y	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	12	1762	+		Breast(25;0.00957)|Ovarian(249;0.17)	505					B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	c.1513C>T	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499366	0.64298	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.6	5.6	0.85130	.	0.122019	0.64402	D	0.000015	T	0.33614	0.0869	N	0.08118	0	0.80722	D	1	P;B	0.35575	0.51;0.118	B;B	0.38500	0.275;0.085	T	0.24870	-1.0148	9	0.02654	T	1	-10.075	17.7949	0.88567	0.0:1.0:0.0:0.0	.	505;505	A8K3S2;Q9H3C7	.;GGNB2_HUMAN	Y	505	.	ENSP00000307617:H505Y	H	+	1	0	GGNBP2	32016613	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.033000	0.64146	2.640000	0.89533	0.561000	0.74099	CAC		0.353	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		8	218	0	0	0	0	8	218				
ACACA	31	broad.mit.edu	37	17	35600327	35600327	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:35600327C>T	ENST00000394406.2	-	22	2970	c.2780G>A	c.(2779-2781)aGc>aAc	p.S927N	ACACA_ENST00000335166.5_Missense_Mutation_p.S849N|ACACA_ENST00000353139.5_Missense_Mutation_p.S964N|ACACA_ENST00000360679.3_Missense_Mutation_p.S869N	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	927					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGTGATGTTGCTAGCATACTG	0.438																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(2779-2781)AGC>AAC		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						208.0	195.0	200.0					17																	35600327		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35600327C>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2780G>A	17.37:g.35600327C>T	ENSP00000377928:p.Ser927Asn					ACACA_uc002hnk.2_Missense_Mutation_p.S849N|ACACA_uc002hnl.2_Missense_Mutation_p.S869N|ACACA_uc002hnn.2_Missense_Mutation_p.S927N|ACACA_uc002hno.2_Missense_Mutation_p.S964N|ACACA_uc010cuz.2_Missense_Mutation_p.S927N	p.S927N	NM_198836	NP_942133	Q13085	ACACA_HUMAN			22	2971	-		Breast(25;0.00157)|Ovarian(249;0.15)	927					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.2780G>A	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616534	0.66672	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	4.73	4.73	0.59995	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.63780	0.2540	M	0.72576	2.205	0.80722	D	1	P;B;B	0.48640	0.913;0.166;0.072	P;B;B	0.59825	0.864;0.209;0.132	T	0.58668	-0.7596	10	0.23302	T	0.38	-17.156	17.2287	0.86978	0.0:1.0:0.0:0.0	.	964;927;869	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	N	964;869;927;951;849	ENSP00000344789:S964N;ENSP00000353898:S869N;ENSP00000377928:S927N;ENSP00000335323:S849N	ENSP00000335323:S849N	S	-	2	0	ACACA	32674440	1.000000	0.71417	0.977000	0.42913	0.996000	0.88848	7.609000	0.82925	2.620000	0.88729	0.655000	0.94253	AGC		0.438	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		88	188	0	0	0	0	88	188				
HNF1B	6928	broad.mit.edu	37	17	36104543	36104543	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:36104543G>A	ENST00000225893.4	-	1	694	c.333C>T	c.(331-333)gaC>gaT	p.D111D	HNF1B_ENST00000561193.1_Silent_p.D111D|HNF1B_ENST00000560016.1_Silent_p.D111D|RP11-115K3.1_ENST00000558143.1_RNA|HNF1B_ENST00000427275.2_Silent_p.D111D	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	111					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGAGCATCCGGTCCACCTCCG	0.706																																					Colon(71;102 1179 9001 27917 43397)	uc002hok.3		NA																	0				ovary(3)	3						c.(331-333)GAC>GAT		hepatocyte nuclear factor 1-beta isoform 1							37.0	41.0	40.0					17																	36104543		2201	4297	6498	SO:0001819	synonymous_variant	6928	Hereditary_Prostate_Cancer			endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36104543G>A	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.333C>T	17.37:g.36104543G>A						HNF1B_uc010wdi.1_Silent_p.D111D	p.D111D	NM_000458	NP_000449	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		1	554	-		Breast(25;0.00765)|Ovarian(249;0.15)	111					B4DKM3|E0YMJ9	Silent	SNP	ENST00000225893.4	37	c.333C>T	CCDS11324.1																																																																																				0.706	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		28	81	0	0	0	0	28	81				
KRT10	3858	broad.mit.edu	37	17	38975820	38975820	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:38975820C>T	ENST00000269576.5	-	6	1331	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	441	Coil 2.|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)				ATTCTCCAGTCGGATCTTAAT	0.418																																						uc002hvi.2		NA																	0					0						c.(1321-1323)CGA>CAA		keratin 10							128.0	128.0	128.0					17																	38975820		2203	4300	6503	SO:0001583	missense	3858				epidermis development		protein binding|structural constituent of epidermis	g.chr17:38975820C>T	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.1322G>A	17.37:g.38975820C>T	ENSP00000269576:p.Arg441Gln					KRT10_uc010cxd.2_RNA|TMEM99_uc002hvj.1_Intron	p.R441Q	NM_000421	NP_000412	P13645	K1C10_HUMAN			6	1348	-		Breast(137;0.000301)	441			Rod.|Gly-rich.|Coil 2.		Q14664|Q8N175	Missense_Mutation	SNP	ENST00000269576.5	37	c.1322G>A	CCDS11377.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720891	0.89205	.	.	ENSG00000186395	ENST00000269576	D	0.93953	-3.32	5.6	4.64	0.57946	Filament (1);	0.000000	0.30311	N	0.009903	D	0.95056	0.8399	M	0.78916	2.43	0.80722	D	1	P	0.42483	0.781	P	0.52514	0.701	D	0.95102	0.8231	10	0.87932	D	0	.	11.7181	0.51666	0.0:0.8577:0.0:0.1423	.	441	P13645	K1C10_HUMAN	Q	441	ENSP00000269576:R441Q	ENSP00000269576:R441Q	R	-	2	0	KRT10	36229346	0.217000	0.23597	0.998000	0.56505	0.985000	0.73830	1.935000	0.40173	1.387000	0.46486	0.655000	0.94253	CGA		0.418	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421		61	184	0	0	0	0	61	184				
KRT33A	3883	broad.mit.edu	37	17	39503388	39503388	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:39503388C>G	ENST00000007735.3	-	4	719	c.675G>C	c.(673-675)ctG>ctC	p.L225L		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	225	Coil 2.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TGGTCTCATTCAGGACCTGGT	0.597																																						uc002hwk.1		NA																	0					0						c.(673-675)CTG>CTC		keratin 33A							87.0	78.0	81.0					17																	39503388		2203	4300	6503	SO:0001819	synonymous_variant	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39503388C>G	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.675G>C	17.37:g.39503388C>G							p.L225L	NM_004138	NP_004129	O76009	KT33A_HUMAN			4	712	-		Breast(137;0.000496)	225			Coil 2.|Rod.		B2RA87|Q6NTB9|Q6ZZB9	Silent	SNP	ENST00000007735.3	37	c.675G>C	CCDS11388.1																																																																																				0.597	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		32	75	0	0	0	0	32	75				
HAP1	9001	broad.mit.edu	37	17	39881320	39881320	+	Missense_Mutation	SNP	C	C	T	rs149550090		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:39881320C>T	ENST00000310778.5	-	12	1658	c.1649G>A	c.(1648-1650)cGg>cAg	p.R550Q	HAP1_ENST00000347901.4_Missense_Mutation_p.R498Q|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Missense_Mutation_p.R481Q|HAP1_ENST00000393939.2_Missense_Mutation_p.R473Q			P54257	HAP1_HUMAN	huntingtin-associated protein 1	550	Glu-rich.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ATCTTCCCCCCGCATGATATC	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16535	0.0		0.0	False		,,,				2504	0.0					uc002hxm.1		NA																	0				ovary(2)	2						c.(1648-1650)CGG>CAG		huntingtin-associated protein 1 isoform 2		C	GLN/ARG,GLN/ARG,GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	166.0	179.0	175.0		1442,1418,1493	-1.0	0.0	17	dbSNP_134	175	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	HAP1	NM_001079870.1,NM_001079871.1,NM_177977.2	43,43,43	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	possibly-damaging,possibly-damaging,possibly-damaging	481/603,473/595,498/620	39881320	5,13001	2203	4300	6503	SO:0001583	missense	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39881320C>T	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1649G>A	17.37:g.39881320C>T	ENSP00000309392:p.Arg550Gln					JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.R498Q|HAP1_uc002hxo.1_Missense_Mutation_p.R481Q|HAP1_uc002hxp.1_Missense_Mutation_p.R473Q	p.R550Q	NM_177977	NP_817084	P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		12	1661	-		Breast(137;0.000162)	550			Glu-rich.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	37	c.1649G>A		.	.	.	.	.	.	.	.	.	.	C	9.237	1.037271	0.19669	9.08E-4	1.16E-4	ENSG00000173805	ENST00000458656;ENST00000442364;ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T;T;T	0.39787	1.46;1.06;3.31;3.57;3.44;3.32	2.27	-0.985	0.10256	.	1.394770	0.05185	N	0.502100	T	0.20292	0.0488	N	0.14661	0.345	0.09310	N	1	D;D;D;D	0.58268	0.982;0.982;0.982;0.97	B;B;B;B	0.36766	0.232;0.232;0.232;0.116	T	0.17258	-1.0375	10	0.59425	D	0.04	.	2.8645	0.05597	0.3195:0.2507:0.4298:0.0	.	473;481;498;550	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	Q	5;25;473;550;498;481	ENSP00000404640:R5Q;ENSP00000388981:R25Q;ENSP00000377513:R473Q;ENSP00000309392:R550Q;ENSP00000334002:R498Q;ENSP00000343170:R481Q	ENSP00000309392:R550Q	R	-	2	0	HAP1	37134846	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.658000	0.24979	-0.206000	0.10203	-0.303000	0.09236	CGG		0.607	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		147	409	0	0	0	0	147	409				
WNK4	65266	broad.mit.edu	37	17	40947774	40947774	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:40947774G>A	ENST00000246914.5	+	16	3175	c.3154G>A	c.(3154-3156)Gag>Aag	p.E1052K		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1052					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCTCACTTCAGAGAGCTCAGA	0.587																																					Esophageal Squamous(6;201 374 4964 23855 42828)	uc002ibj.2		NA																	0		p.P1052S(1)		ovary(3)|skin(3)|stomach(1)	7						c.(3154-3156)GAG>AAG		WNK lysine deficient protein kinase 4							59.0	57.0	57.0					17																	40947774		2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40947774G>A	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.3154G>A	17.37:g.40947774G>A	ENSP00000246914:p.Glu1052Lys					WNK4_uc010wgx.1_Missense_Mutation_p.E716K|CCDC56_uc010wgz.1_Silent_p.L162L	p.E1052K	NM_032387	NP_115763	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	16	3175	+		Breast(137;0.000143)	1052					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.3154G>A	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539461	0.27563	.	.	ENSG00000126562	ENST00000246914	T	0.71817	-0.6	5.02	5.02	0.67125	.	0.000000	0.48286	D	0.000182	T	0.69223	0.3087	L	0.47716	1.5	0.80722	D	1	D;P	0.53619	0.961;0.935	P;B	0.49597	0.616;0.411	T	0.64968	-0.6282	10	0.22706	T	0.39	-17.4174	13.6934	0.62562	0.0:0.0:1.0:0.0	.	1052;1052	Q96J92-3;Q96J92	.;WNK4_HUMAN	K	1052	ENSP00000246914:E1052K	ENSP00000246914:E1052K	E	+	1	0	WNK4	38201300	0.942000	0.31987	0.999000	0.59377	0.316000	0.28119	2.251000	0.43187	2.615000	0.88500	0.491000	0.48974	GAG		0.587	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			31	66	0	0	0	0	31	66				
WNK4	65266	broad.mit.edu	37	17	40948596	40948596	+	Splice_Site	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:40948596G>A	ENST00000246914.5	+	18	3750	c.3729G>A	c.(3727-3729)atG>atA	p.M1243I	CNTD1_ENST00000588408.1_5'Flank|CNTD1_ENST00000588527.1_5'Flank	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1243					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTGGCAGGATGGTGAGGGCGG	0.607																																					Esophageal Squamous(6;201 374 4964 23855 42828)	uc002ibj.2		NA																	0				ovary(3)|skin(3)|stomach(1)	7						c.(3727-3729)ATG>ATA		WNK lysine deficient protein kinase 4							68.0	65.0	66.0					17																	40948596		2203	4300	6503	SO:0001630	splice_region_variant	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40948596G>A	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.3729+1G>A	17.37:g.40948596G>A						WNK4_uc010wgx.1_Missense_Mutation_p.M907I|CCDC56_uc010wgz.1_Intron|CNTD1_uc002ibm.3_5'Flank|CNTD1_uc010wha.1_5'Flank	p.M1243I	NM_032387	NP_115763	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	18	3750	+		Breast(137;0.000143)	1243					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.3729G>A	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892153	0.72524	.	.	ENSG00000126562	ENST00000246914	T	0.75260	-0.92	5.59	5.59	0.84812	.	0.000000	0.47455	U	0.000233	T	0.61388	0.2343	N	0.14661	0.345	0.80722	D	1	B	0.30146	0.27	B	0.27608	0.081	T	0.59348	-0.7471	10	0.36615	T	0.2	-1.3138	19.1843	0.93637	0.0:0.0:1.0:0.0	.	1243	Q96J92	WNK4_HUMAN	I	1243	ENSP00000246914:M1243I	ENSP00000246914:M1243I	M	+	3	0	WNK4	38202122	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.581000	0.67471	2.639000	0.89480	0.655000	0.94253	ATG		0.607	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1		Missense_Mutation	19	74	0	0	0	0	19	74				
CDC27	996	broad.mit.edu	37	17	45214545	45214545	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:45214545C>T	ENST00000066544.3	-	14	1979	c.1886G>A	c.(1885-1887)aGa>aAa	p.R629K	CDC27_ENST00000527547.1_Missense_Mutation_p.R628K|CDC27_ENST00000531206.1_Missense_Mutation_p.R635K|CDC27_ENST00000446365.2_Missense_Mutation_p.R568K	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	629					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AGGATTGACTCTGATAGCATT	0.348																																						uc002ild.3		NA																	0				lung(2)|breast(2)|ovary(1)	5						c.(1885-1887)AGA>AAA		cell division cycle protein 27 isoform 2							48.0	49.0	48.0					17																	45214545		2203	4300	6503	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45214545C>T	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1886G>A	17.37:g.45214545C>T	ENSP00000066544:p.Arg629Lys					CDC27_uc002ile.3_Missense_Mutation_p.R635K|CDC27_uc002ilf.3_Missense_Mutation_p.R628K|CDC27_uc010wkp.1_Missense_Mutation_p.R568K|CDC27_uc010wkq.1_Intron	p.R629K	NM_001256	NP_001247	P30260	CDC27_HUMAN			14	2013	-			629			TPR 5.		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.1886G>A	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597391	0.87055	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.81	5.81	0.92471	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	L	0.58969	1.84	0.58432	D	0.999999	P;P;P;P	0.49635	0.926;0.824;0.909;0.851	P;B;B;P	0.47891	0.56;0.348;0.425;0.474	T	0.54622	-0.8266	10	0.08837	T	0.75	-31.9069	17.5633	0.87913	0.0:1.0:0.0:0.0	.	568;628;635;629	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	K	629;635;568;628	ENSP00000066544:R629K;ENSP00000434614:R635K;ENSP00000392802:R568K;ENSP00000437339:R628K	ENSP00000066544:R629K	R	-	2	0	CDC27	42569544	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.761000	0.94854	0.585000	0.79938	AGA		0.348	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			11	50	0	0	0	0	11	50				
CDC27	996	broad.mit.edu	37	17	45216151	45216151	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:45216151G>A	ENST00000066544.3	-	13	1751	c.1658C>T	c.(1657-1659)tCa>tTa	p.S553L	CDC27_ENST00000527547.1_Missense_Mutation_p.S552L|CDC27_ENST00000531206.1_Missense_Mutation_p.S559L|CDC27_ENST00000446365.2_Missense_Mutation_p.S492L	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	553					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGACAGAACTGAAAGAGCAAC	0.353																																						uc002ild.3		NA																	0				lung(2)|breast(2)|ovary(1)	5						c.(1657-1659)TCA>TTA		cell division cycle protein 27 isoform 2							45.0	51.0	49.0					17																	45216151		2202	4298	6500	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45216151G>A	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1658C>T	17.37:g.45216151G>A	ENSP00000066544:p.Ser553Leu					CDC27_uc002ile.3_Missense_Mutation_p.S559L|CDC27_uc002ilf.3_Missense_Mutation_p.S552L|CDC27_uc010wkp.1_Missense_Mutation_p.S492L|CDC27_uc010wkq.1_Intron	p.S553L	NM_001256	NP_001247	P30260	CDC27_HUMAN			13	1785	-			553					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.1658C>T	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	G	35	5.443780	0.96187	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.72051	-0.61;-0.6;-0.33;-0.62	5.72	5.72	0.89469	Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.88706	0.6509	H	0.94925	3.6	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.79784	0.993;0.983;0.993;0.993	D	0.91344	0.5099	10	0.87932	D	0	-17.7594	17.3689	0.87371	0.0:0.0:1.0:0.0	.	492;552;559;553	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	L	553;559;492;552	ENSP00000066544:S553L;ENSP00000434614:S559L;ENSP00000392802:S492L;ENSP00000437339:S552L	ENSP00000066544:S553L	S	-	2	0	CDC27	42571150	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.706000	0.92434	0.650000	0.86243	TCA		0.353	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			30	118	0	0	0	0	30	118				
KPNB1	3837	broad.mit.edu	37	17	45757436	45757436	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:45757436G>C	ENST00000290158.4	+	20	2811	c.2404G>C	c.(2404-2406)Gac>Cac	p.D802H	KPNB1_ENST00000540627.1_Missense_Mutation_p.D657H|KPNB1_ENST00000537679.1_Missense_Mutation_p.D586H|KPNB1_ENST00000535458.2_Missense_Mutation_p.D657H|RP11-138C9.1_ENST00000578482.1_RNA	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	802					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						GTCTTTCATTGACCACATTGC	0.453																																						uc002ilt.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2404-2406)GAC>CAC		karyopherin beta 1							233.0	236.0	235.0					17																	45757436		2203	4300	6503	SO:0001583	missense	3837				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	g.chr17:45757436G>C	L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"""Importins"", ""Armadillo repeat containing"""	6400	protein-coding gene	gene with protein product	"""importin 1"""	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.2404G>C	17.37:g.45757436G>C	ENSP00000290158:p.Asp802His					KPNB1_uc010wkw.1_Missense_Mutation_p.D657H|KPNB1_uc010wkx.1_Missense_Mutation_p.D586H	p.D802H	NM_002265	NP_002256	Q14974	IMB1_HUMAN			20	2740	+			802					B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	ENST00000290158.4	37	c.2404G>C	CCDS11513.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.167807	0.38315	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.28	5.28	0.74379	Armadillo-like helical (1);Armadillo-type fold (1);	0.042950	0.85682	D	0.000000	T	0.51041	0.1651	N	0.11284	0.12	0.37891	D	0.930726	B;B	0.12630	0.006;0.0	B;B	0.10450	0.005;0.001	T	0.51865	-0.8651	9	0.37606	T	0.19	-20.7094	18.9028	0.92449	0.0:0.0:1.0:0.0	.	586;802	F5H4R7;Q14974	.;IMB1_HUMAN	H	657;802;657;586	ENSP00000438253:D657H;ENSP00000290158:D802H;ENSP00000438964:D657H;ENSP00000445006:D586H	ENSP00000290158:D802H	D	+	1	0	KPNB1	43112435	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.666000	0.74446	2.470000	0.83445	0.563000	0.77884	GAC		0.453	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2	NM_002265		68	183	0	0	0	0	68	183				
TBKBP1	9755	broad.mit.edu	37	17	45787869	45787869	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:45787869G>C	ENST00000361722.3	+	9	2574	c.1725G>C	c.(1723-1725)ctG>ctC	p.L575L		NM_014726.2	NP_055541.1			TBK1 binding protein 1											endometrium(5)|kidney(1)|lung(1)	7						GACAGTTGCTGATGGAGACGG	0.632																																						uc002ilu.2		NA																	0					0						c.(1723-1725)CTG>CTC		TBK1 binding protein 1							36.0	42.0	40.0					17																	45787869		2004	4146	6150	SO:0001819	synonymous_variant	9755				innate immune response			g.chr17:45787869G>C	AB018318	CCDS45722.1	17q21.32	2012-05-17				ENSG00000198933			30140	protein-coding gene	gene with protein product		608476				14743216, 19481056	Standard	NM_014726		Approved	ProSAPiP2, KIAA0775	uc002ilu.3	A7MCY6		ENST00000361722.3:c.1725G>C	17.37:g.45787869G>C							p.L575L	NM_014726	NP_055541	A7MCY6	TBKB1_HUMAN			9	2574	+			575						Silent	SNP	ENST00000361722.3	37	c.1725G>C	CCDS45722.1	.	.	.	.	.	.	.	.	.	.	G	6.211	0.407014	0.11754	.	.	ENSG00000198933	ENST00000537587	.	.	.	5.69	3.36	0.38483	.	.	.	.	.	T	0.66177	0.2763	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69194	-0.5209	5	0.66056	D	0.02	-20.8886	10.9148	0.47129	0.0802:0.0:0.7851:0.1347	.	.	.	.	H	200	.	ENSP00000446365:D200H	D	+	1	0	TBKBP1	43142868	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	5.069000	0.64370	1.405000	0.46838	-0.475000	0.04921	GAT		0.632	TBKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441363.1	NM_014726		17	52	0	0	0	0	17	52				
DLX4	1748	broad.mit.edu	37	17	48050615	48050615	+	Silent	SNP	C	C	T	rs150742579		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:48050615C>T	ENST00000240306.3	+	2	757	c.462C>T	c.(460-462)ctC>ctT	p.L154L	DLX4_ENST00000411890.2_Silent_p.L82L	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	154					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						CAGCGCAGCTCGGCCTCACCC	0.642																																						uc002ipv.2		NA																	0					0						c.(460-462)CTC>CTT		distal-less homeobox 4 isoform a							25.0	25.0	25.0					17																	48050615		2203	4299	6502	SO:0001819	synonymous_variant	1748				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48050615C>T		CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"""Homeoboxes / ANTP class : NKL subclass"""	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.462C>T	17.37:g.48050615C>T						DLX4_uc002ipw.2_Silent_p.L82L	p.L154L	NM_138281	NP_612138	Q92988	DLX4_HUMAN			2	733	+			154			Homeobox.		D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Silent	SNP	ENST00000240306.3	37	c.462C>T	CCDS11555.1																																																																																				0.642	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366214.1			16	33	0	0	0	0	16	33				
COL1A1	1277	broad.mit.edu	37	17	48267430	48267430	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:48267430C>T	ENST00000225964.5	-	36	2609	c.2491G>A	c.(2491-2493)Gat>Aat	p.D831N		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	831	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GCACCAGCATCACCAGGTTCG	0.662			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															uc002iqm.2		NA		Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	PDGFB|USP6		dermatofibrosarcoma protuberans|aneurysmal bone cyst 	COL1A1/PDGFB(372)	0				soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382						c.(2491-2493)GAT>AAT		alpha 1 type I collagen preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						53.0	57.0	55.0					17																	48267430		2203	4300	6503	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48267430C>T	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.2491G>A	17.37:g.48267430C>T	ENSP00000225964:p.Asp831Asn						p.D831N	NM_000088	NP_000079	P02452	CO1A1_HUMAN			36	2617	-			831			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.2491G>A	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997107	0.74818	.	.	ENSG00000108821	ENST00000225964	D	0.93247	-3.19	5.08	5.08	0.68730	.	0.129057	0.50627	D	0.000120	D	0.93255	0.7851	L	0.27975	0.815	0.80722	D	1	P	0.39717	0.684	P	0.55303	0.773	D	0.92533	0.6035	10	0.35671	T	0.21	.	17.2265	0.86972	0.0:1.0:0.0:0.0	.	831	P02452	CO1A1_HUMAN	N	831	ENSP00000225964:D831N	ENSP00000225964:D831N	D	-	1	0	COL1A1	45622429	0.879000	0.30193	1.000000	0.80357	0.911000	0.54048	2.710000	0.47169	2.374000	0.81015	0.313000	0.20887	GAT		0.662	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			33	100	0	0	0	0	33	100				
CACNA1G	8913	broad.mit.edu	37	17	48649387	48649387	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:48649387G>A	ENST00000359106.5	+	5	735	c.735G>A	c.(733-735)gaG>gaA	p.E245E	CACNA1G_ENST00000515765.1_Silent_p.E245E|CACNA1G_ENST00000429973.2_Silent_p.E245E|CACNA1G_ENST00000352832.5_Silent_p.E245E|CACNA1G_ENST00000514181.1_Silent_p.E245E|CACNA1G_ENST00000512389.1_Silent_p.E245E|CACNA1G_ENST00000360761.4_Silent_p.E245E|CACNA1G_ENST00000442258.2_Silent_p.E245E|CACNA1G_ENST00000416767.4_Silent_p.E245E|CACNA1G_ENST00000358244.5_Silent_p.E245E|CACNA1G_ENST00000507510.2_Silent_p.E245E|CACNA1G_ENST00000502264.1_Silent_p.E245E|CACNA1G_ENST00000515165.1_Silent_p.E245E|CACNA1G_ENST00000514079.1_Silent_p.E245E|CACNA1G_ENST00000510366.1_Silent_p.E245E|CACNA1G_ENST00000354983.4_Silent_p.E245E|CACNA1G_ENST00000513964.1_Silent_p.E245E|CACNA1G_ENST00000505165.1_Silent_p.E245E|CACNA1G_ENST00000507609.1_Silent_p.E245E|CACNA1G_ENST00000513689.2_Silent_p.E245E|CACNA1G_ENST00000515411.1_Silent_p.E245E|CACNA1G_ENST00000507336.1_Silent_p.E245E|CACNA1G_ENST00000510115.1_Silent_p.E245E|CACNA1G_ENST00000507896.1_Silent_p.E245E|CACNA1G_ENST00000514717.1_Silent_p.E245E|CACNA1G_ENST00000503485.1_Silent_p.E245E	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	245					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCCTACCTGAGAATTTCAGCC	0.597																																						uc002irk.1		NA																	0				breast(1)	1						c.(733-735)GAG>GAA		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						66.0	65.0	65.0					17																	48649387		2064	4205	6269	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48649387G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.735G>A	17.37:g.48649387G>A						CACNA1G_uc002iri.1_Silent_p.E245E|CACNA1G_uc002irj.1_Silent_p.E245E|CACNA1G_uc002irl.1_Silent_p.E245E|CACNA1G_uc002irm.1_Silent_p.E245E|CACNA1G_uc002irn.1_Silent_p.E245E|CACNA1G_uc002iro.1_Silent_p.E245E|CACNA1G_uc002irp.1_Silent_p.E245E|CACNA1G_uc002irq.1_Silent_p.E245E|CACNA1G_uc002irr.1_Silent_p.E245E|CACNA1G_uc002irs.1_Silent_p.E245E|CACNA1G_uc002irt.1_Silent_p.E245E|CACNA1G_uc002irv.1_Silent_p.E245E|CACNA1G_uc002irw.1_Silent_p.E245E|CACNA1G_uc002iru.1_Silent_p.E245E|CACNA1G_uc002irx.1_Silent_p.E158E|CACNA1G_uc002iry.1_Silent_p.E158E|CACNA1G_uc002irz.1_Silent_p.E158E|CACNA1G_uc002isa.1_Silent_p.E158E|CACNA1G_uc002isb.1_Silent_p.E158E|CACNA1G_uc002isc.1_Silent_p.E158E|CACNA1G_uc002isd.1_Silent_p.E158E|CACNA1G_uc002ise.1_Silent_p.E158E|CACNA1G_uc002isf.1_Silent_p.E158E|CACNA1G_uc002isg.1_Silent_p.E158E|CACNA1G_uc002ish.1_Silent_p.E158E|CACNA1G_uc002isi.1_Silent_p.E158E	p.E245E	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		5	1107	+	Breast(11;6.7e-17)		245			Extracellular (Potential).|I.		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.735G>A	CCDS45730.1																																																																																				0.597	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		13	44	0	0	0	0	13	44				
KIF2B	84643	broad.mit.edu	37	17	51901140	51901140	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:51901140C>T	ENST00000268919.4	+	1	902	c.746C>T	c.(745-747)tCc>tTc	p.S249F		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	249	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTGCATGAGTCCAAGCAAAAG	0.537																																						uc002iua.2		NA																	0				ovary(5)|skin(3)	8						c.(745-747)TCC>TTC		kinesin family member 2B							133.0	109.0	117.0					17																	51901140		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901140C>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.746C>T	17.37:g.51901140C>T	ENSP00000268919:p.Ser249Phe					uc010wna.1_Intron	p.S249F	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	902	+			249			Kinesin-motor.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.746C>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.406749	0.83230	.	.	ENSG00000141200	ENST00000268919	T	0.75821	-0.97	5.63	5.63	0.86233	Kinesin, motor domain (4);	0.130230	0.35151	N	0.003418	T	0.68320	0.2988	L	0.28740	0.885	0.43703	D	0.996166	B	0.23058	0.079	B	0.25987	0.065	T	0.65207	-0.6224	10	0.66056	D	0.02	.	19.0377	0.92986	0.0:1.0:0.0:0.0	.	249	Q8N4N8	KIF2B_HUMAN	F	249	ENSP00000268919:S249F	ENSP00000268919:S249F	S	+	2	0	KIF2B	49256139	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.721000	0.84768	2.798000	0.96311	0.655000	0.94253	TCC		0.537	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		22	40	0	0	0	0	22	40				
HSF5	124535	broad.mit.edu	37	17	56540556	56540556	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:56540556G>A	ENST00000323777.3	-	4	1238	c.1129C>T	c.(1129-1131)Cag>Tag	p.Q377*		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	377					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCAACTATCTGAAAGACAGCC	0.443																																						uc002iwi.1		NA																	0				ovary(2)|skin(1)	3						c.(1129-1131)CAG>TAG		heat shock transcription factor family member 5							99.0	94.0	96.0					17																	56540556		2203	4300	6503	SO:0001587	stop_gained	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56540556G>A	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.1129C>T	17.37:g.56540556G>A	ENSP00000313243:p.Gln377*						p.Q377*	NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN			4	1253	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		377					Q08EH7|Q8N7V2	Nonsense_Mutation	SNP	ENST00000323777.3	37	c.1129C>T	CCDS32690.1	.	.	.	.	.	.	.	.	.	.	G	36	5.754346	0.96890	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	.	.	.	5.47	5.47	0.80525	.	0.334636	0.25987	N	0.027023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	16.0593	0.80830	0.0:0.0:1.0:0.0	.	.	.	.	X	277;377	.	ENSP00000313243:Q377X	Q	-	1	0	HSF5	53895555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.434000	0.59935	2.563000	0.86464	0.650000	0.86243	CAG		0.443	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		51	139	0	0	0	0	51	139				
MTMR4	9110	broad.mit.edu	37	17	56572322	56572322	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:56572322C>G	ENST00000323456.5	-	16	3305	c.3181G>C	c.(3181-3183)Gag>Cag	p.E1061Q	MTMR4_ENST00000579925.1_Missense_Mutation_p.E1004Q	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1061					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGGGGGGCTCTGCTGGAGGG	0.512																																						uc002iwj.2		NA																	0				skin(1)	1						c.(3181-3183)GAG>CAG		myotubularin related protein 4							95.0	88.0	90.0					17																	56572322		2203	4300	6503	SO:0001583	missense	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56572322C>G	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.3181G>C	17.37:g.56572322C>G	ENSP00000325285:p.Glu1061Gln						p.E1061Q	NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN			16	3291	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1061					D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.3181G>C	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580030	0.65992	.	.	ENSG00000108389	ENST00000323456	D	0.93712	-3.27	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.94915	0.8356	L	0.50333	1.59	0.36486	D	0.868142	D	0.71674	0.998	P	0.60682	0.878	D	0.94998	0.8140	10	0.33940	T	0.23	.	18.7892	0.91966	0.0:1.0:0.0:0.0	.	1061	Q9NYA4	MTMR4_HUMAN	Q	1061	ENSP00000325285:E1061Q	ENSP00000325285:E1061Q	E	-	1	0	MTMR4	53927321	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.517000	0.67061	2.685000	0.91497	0.555000	0.69702	GAG		0.512	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		18	69	0	0	0	0	18	69				
TRIM37	4591	broad.mit.edu	37	17	57058095	57058095	+	IGR	SNP	C	C	G	rs369185588		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:57058095C>G	ENST00000393066.3	-	0	3622				PPM1E_ENST00000308249.2_Missense_Mutation_p.F657L	NM_001005207.2	NP_001005207.1	O94972	TRI37_HUMAN	tripartite motif containing 37						aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ATGAACAGTTCAAATCCCCGG	0.423									Mulibrey Nanism																													uc002iwx.2		NA																	0				breast(3)|lung(1)|skin(1)	5						c.(1969-1971)TTC>TTG		protein phosphatase 1E		C	LEU/PHE	1,4405	2.1+/-5.4	0,1,2202	152.0	161.0	158.0		1971	2.2	1.0	17		158	0,8600		0,0,4300	no	missense	PPM1E	NM_014906.3	22	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	benign	657/756	57058095	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	22843		Familial Cancer Database	Perheentupa syndrome	protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr17:57058095C>G	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972			17.37:g.57058095C>G						PPM1E_uc010ddd.2_Missense_Mutation_p.F420L	p.F657L	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.76e-11)		7	2098	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		666					Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000393066.3	37	c.1971C>G	CCDS45746.1	.	.	.	.	.	.	.	.	.	.	C	9.094	1.002489	0.19121	2.27E-4	0.0	ENSG00000175175	ENST00000308249;ENST00000443121	T	0.18810	2.19	5.67	2.21	0.28008	.	1.586510	0.03203	N	0.175009	T	0.18299	0.0439	N	0.24115	0.695	0.24311	N	0.995082	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.29701	-1.0003	10	0.36615	T	0.2	-0.2999	11.7451	0.51815	0.3519:0.5438:0.1042:0.0	.	666;657	Q8WY54-3;Q8WY54-2	.;.	L	657;508	ENSP00000312411:F657L	ENSP00000312411:F657L	F	+	3	2	PPM1E	54412877	0.971000	0.33674	0.998000	0.56505	0.866000	0.49608	0.279000	0.18771	0.733000	0.32492	-0.268000	0.10319	TTC		0.423	TRIM37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445928.1	NM_015294		92	283	0	0	0	0	92	283				
GDPD1	284161	broad.mit.edu	37	17	57322854	57322854	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:57322854G>C	ENST00000284116.4	+	3	402	c.265G>C	c.(265-267)Gag>Cag	p.E89Q	GDPD1_ENST00000581140.1_Missense_Mutation_p.E89Q|GDPD1_ENST00000581276.1_Missense_Mutation_p.E89Q	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	89	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					GTCACATGATGAGAATCTAAA	0.348																																						uc002ixk.1		NA																	0					0						c.(265-267)GAG>CAG		glycerophosphodiester phosphodiesterase domain							105.0	90.0	95.0					17																	57322854		2203	4300	6503	SO:0001583	missense	284161				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr17:57322854G>C	AK094770	CCDS11616.1, CCDS58583.1, CCDS58584.1	17q23.2	2011-01-25				ENSG00000153982			20883	protein-coding gene	gene with protein product						14612981	Standard	NM_182569		Approved	FLJ37451, GDE4	uc002ixk.2	Q8N9F7		ENST00000284116.4:c.265G>C	17.37:g.57322854G>C	ENSP00000284116:p.Glu89Gln					GDPD1_uc002ixj.2_Missense_Mutation_p.E89Q	p.E89Q	NM_182569	NP_872375	Q8N9F7	GDPD1_HUMAN			3	402	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		89			Cytoplasmic (Potential).|GDPD.		A8W735|Q56VR1|Q8N4E3	Missense_Mutation	SNP	ENST00000284116.4	37	c.265G>C	CCDS11616.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335479	0.41398	.	.	ENSG00000153982	ENST00000284116	T	0.31769	1.48	5.41	5.41	0.78517	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.387230	0.31233	N	0.008011	T	0.29061	0.0722	L	0.36672	1.1	0.31526	N	0.661724	B;B	0.09022	0.001;0.002	B;B	0.10450	0.005;0.005	T	0.19811	-1.0294	10	0.51188	T	0.08	.	17.8214	0.88651	0.0:0.0:1.0:0.0	.	89;89	Q8N9F7;Q8N9F7-2	GDPD1_HUMAN;.	Q	89	ENSP00000284116:E89Q	ENSP00000284116:E89Q	E	+	1	0	GDPD1	54677636	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.043000	0.64208	2.552000	0.86080	0.485000	0.47835	GAG		0.348	GDPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446024.1	NM_182569		4	127	0	0	0	0	4	127				
MED13	9969	broad.mit.edu	37	17	60088194	60088194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:60088194G>A	ENST00000397786.2	-	9	1760	c.1684C>T	c.(1684-1686)Caa>Taa	p.Q562*		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	562					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTTGGCATTTGATAAAAATGT	0.438																																						uc002izo.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1684-1686)CAA>TAA		mediator complex subunit 13							152.0	136.0	141.0					17																	60088194		1897	4125	6022	SO:0001587	stop_gained	9969				androgen 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|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60088194G>A	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.1684C>T	17.37:g.60088194G>A	ENSP00000380888:p.Gln562*					MED13_uc002izp.2_Nonsense_Mutation_p.Q178*	p.Q562*	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			9	1761	-			562					B2RU05|O60334	Nonsense_Mutation	SNP	ENST00000397786.2	37	c.1684C>T	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847550	0.71603	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	.	.	.	6.16	6.16	0.99307	.	0.107851	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-21.3824	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	X	562;561	.	ENSP00000262436:Q561X	Q	-	1	0	MED13	57442976	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.590000	0.90821	2.937000	0.99478	0.650000	0.86243	CAA		0.438	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		46	112	0	0	0	0	46	112				
GH1	2688	broad.mit.edu	37	17	61994806	61994806	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:61994806C>T	ENST00000323322.5	-	5	559	c.517G>A	c.(517-519)Gac>Aac	p.D173N	GH1_ENST00000458650.2_Missense_Mutation_p.D158N|GH1_ENST00000351388.4_Missense_Mutation_p.D133N|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Missense_Mutation_p.D78N	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	173					bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GAGTTTGTGTCGAACTTGCTG	0.542																																						uc002jdj.2		NA																	0					0						c.(517-519)GAC>AAC		growth hormone 1 isoform 1							278.0	214.0	236.0					17																	61994806		2203	4300	6503	SO:0001583	missense	2688				glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	g.chr17:61994806C>T	M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"""Endogenous ligands"""	4261	protein-coding gene	gene with protein product	"""pituitary growth hormone"", ""somatotropin"""	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.517G>A	17.37:g.61994806C>T	ENSP00000312673:p.Asp173Asn					GH1_uc002jdi.2_Missense_Mutation_p.D158N|GH1_uc002jdk.2_Missense_Mutation_p.D133N|GH1_uc002jdl.2_Missense_Mutation_p.D78N|GH1_uc002jdm.2_Missense_Mutation_p.R24Q|GH1_uc002jdn.2_Silent_p.S126S	p.D173N	NM_000515	NP_000506	P01241	SOMA_HUMAN			5	579	-			173					A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Missense_Mutation	SNP	ENST00000323322.5	37	c.517G>A	CCDS11653.1	.	.	.	.	.	.	.	.	.	.	c	13.72	2.320785	0.41096	.	.	ENSG00000204414	ENST00000323322;ENST00000458650;ENST00000351388;ENST00000342364	D;D;D;D	0.89050	-2.34;-2.34;-2.46;-2.46	2.62	2.62	0.31277	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	2.407450	0.02148	N	0.057787	D	0.94751	0.8306	.	.	.	0.38931	D	0.957942	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.95;0.999;0.999	D	0.86112	0.1563	9	0.87932	D	0	.	12.2254	0.54457	0.0:1.0:0.0:0.0	.	78;133;173;158	B1A4G9;A6NEF6;P01241;B1A4G7	.;.;SOMA_HUMAN;.	N	173;158;133;78	ENSP00000312673:D173N;ENSP00000408486:D158N;ENSP00000343791:D133N;ENSP00000339278:D78N	ENSP00000312673:D173N	D	-	1	0	GH1	59348538	1.000000	0.71417	0.922000	0.36590	0.026000	0.11368	4.945000	0.63568	1.470000	0.48102	0.298000	0.19748	GAC		0.542	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515		49	128	0	0	0	0	49	128				
HELZ	9931	broad.mit.edu	37	17	65156472	65156472	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:65156472G>A	ENST00000358691.5	-	17	2248	c.2082C>T	c.(2080-2082)ctC>ctT	p.L694L	HELZ_ENST00000580168.1_Silent_p.L695L	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	694						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GGGTGCAAATGAGAATCCTGC	0.358																																						uc010wqk.1		NA																	0				ovary(1)|pancreas(1)	2						c.(2083-2085)CTC>CTT		helicase with zinc finger domain							60.0	54.0	56.0					17																	65156472		1820	4077	5897	SO:0001819	synonymous_variant	9931							g.chr17:65156472G>A	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.2082C>T	17.37:g.65156472G>A						HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Silent_p.L694L	p.L695L	NM_014877	NP_055692					17	2272	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Silent	SNP	ENST00000358691.5	37	c.2085C>T	CCDS42374.1																																																																																				0.358	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		30	87	0	0	0	0	30	87				
CD300LB	124599	broad.mit.edu	37	17	72522048	72522048	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:72522048C>G	ENST00000392621.1	-	2	324	c.320G>C	c.(319-321)gGa>gCa	p.G107A	CD300LB_ENST00000314401.3_Missense_Mutation_p.G107A	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	70	Ig-like V-type.				cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						ACTCTTCTCTCCTTGCTCCGA	0.532																																						uc002jkx.2		NA																	0				ovary(1)	1						c.(319-321)GGA>GCA		CD300 molecule-like family member b							237.0	211.0	220.0					17																	72522048		2203	4300	6503	SO:0001583	missense	124599					integral to membrane|plasma membrane	receptor activity	g.chr17:72522048C>G	AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"""Immunoglobulin superfamily / V-set domain containing"""	30811	protein-coding gene	gene with protein product	"""triggering receptor expressed on myeloid cells 5"""	610705	"""CD300 antigen like family member B"""			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.320G>C	17.37:g.72522048C>G	ENSP00000376397:p.Gly107Ala					CD300LB_uc010wqz.1_Missense_Mutation_p.G107A	p.G107A	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN			2	333	-			70			Ig-like V-type.|Extracellular (Potential).		Q1EG73|Q8IX40|Q8N6D1	Missense_Mutation	SNP	ENST00000392621.1	37	c.320G>C	CCDS11700.1	.	.	.	.	.	.	.	.	.	.	C	8.413	0.844554	0.16963	.	.	ENSG00000178789	ENST00000392621;ENST00000314401	T	0.65549	-0.16	5.17	1.42	0.22433	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.396366	0.20856	N	0.084425	T	0.32526	0.0832	N	0.04090	-0.28	0.09310	N	1	B;B	0.29085	0.232;0.232	B;B	0.29440	0.102;0.102	T	0.15009	-1.0452	10	0.45353	T	0.12	-17.7647	3.3559	0.07169	0.1345:0.0811:0.139:0.6454	.	107;70	B4DQ71;A8K4G0	.;CLM7_HUMAN	A	70;107	ENSP00000317337:G107A	ENSP00000317337:G107A	G	-	2	0	CD300LB	70033643	0.000000	0.05858	0.001000	0.08648	0.108000	0.19459	0.346000	0.19997	0.366000	0.24427	-0.339000	0.08088	GGA		0.532	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2	NM_174892		82	238	0	0	0	0	82	238				
FDXR	2232	broad.mit.edu	37	17	72858968	72858968	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:72858968G>C	ENST00000293195.5	-	12	1525	c.1447C>G	c.(1447-1449)Cag>Gag	p.Q483E	FDXR_ENST00000581530.1_Missense_Mutation_p.Q489E|GRIN2C_ENST00000293190.5_5'Flank|GRIN2C_ENST00000347612.4_5'Flank|FDXR_ENST00000582944.1_Missense_Mutation_p.Q475E|FDXR_ENST00000413947.2_Missense_Mutation_p.Q514E|FDXR_ENST00000583917.1_Missense_Mutation_p.Q455E|FDXR_ENST00000420580.2_Missense_Mutation_p.Q443E|FDXR_ENST00000442102.2_Missense_Mutation_p.Q526E|FDXR_ENST00000455107.2_3'UTR|GRIN2C_ENST00000578159.1_5'Flank|FDXR_ENST00000544854.1_Missense_Mutation_p.Q431E	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	483					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	AGCATCTCCTGAGGATCCACC	0.687																																						uc002jly.2		NA																	0					0						c.(1447-1449)CAG>GAG		ferredoxin reductase isoform 1 precursor							42.0	50.0	47.0					17																	72858968		2203	4299	6502	SO:0001583	missense	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72858968G>C	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"""adrenodoxin-NADP(+) reductase"", ""adrenodoxin reductase"""	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.1447C>G	17.37:g.72858968G>C	ENSP00000293195:p.Gln483Glu					GRIN2C_uc002jlt.1_5'Flank|GRIN2C_uc010wrh.1_5'Flank|GRIN2C_uc002jlu.1_5'Flank|GRIN2C_uc002jlv.1_5'Flank|FDXR_uc010wri.1_Missense_Mutation_p.Q431E|FDXR_uc010wrj.1_Missense_Mutation_p.Q481E|FDXR_uc002jlw.2_Missense_Mutation_p.Q240E|FDXR_uc002jlx.2_Missense_Mutation_p.Q489E|FDXR_uc002jmc.2_Missense_Mutation_p.Q455E|FDXR_uc010wrk.1_Missense_Mutation_p.Q514E|FDXR_uc010wrl.1_Missense_Mutation_p.Q526E|FDXR_uc002jma.2_Missense_Mutation_p.Q484E|FDXR_uc010wrm.1_Missense_Mutation_p.Q443E|FDXR_uc002jlz.2_Missense_Mutation_p.Q475E|FDXR_uc002jmb.2_RNA	p.Q483E	NM_024417	NP_077728	P22570	ADRO_HUMAN			12	1534	-	all_lung(278;0.172)|Lung NSC(278;0.207)		483					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	ENST00000293195.5	37	c.1447C>G	CCDS58593.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.688814	0.00738	.	.	ENSG00000161513	ENST00000420580;ENST00000544854;ENST00000293195;ENST00000442102;ENST00000413947	T;T;T;T	0.20738	3.35;3.34;2.05;2.05	5.05	2.85	0.33270	NAD(P)-binding domain (1);	0.456243	0.23074	N	0.052239	T	0.05593	0.0147	N	0.01152	-0.98	0.80722	D	1	B;B;B;B;B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B	0.09377	0.001;0.004;0.0;0.001;0.0;0.0;0.0;0.0;0.0;0.001	T	0.30995	-0.9959	10	0.02654	T	1	-8.7959	9.3548	0.38159	0.0:0.2783:0.5667:0.155	.	443;526;514;481;431;514;483;475;483;489	B4DQQ4;B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2	.;.;.;.;.;.;.;.;ADRO_HUMAN;.	E	443;431;489;526;514	ENSP00000414172:Q443E;ENSP00000445432:Q431E;ENSP00000416515:Q526E;ENSP00000408595:Q514E	ENSP00000293195:Q489E	Q	-	1	0	FDXR	70370563	0.527000	0.26306	0.969000	0.41365	0.014000	0.08584	1.926000	0.40084	1.052000	0.40392	0.407000	0.27541	CAG		0.687	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		34	84	0	0	0	0	34	84				
CASKIN2	57513	broad.mit.edu	37	17	73498777	73498777	+	Missense_Mutation	SNP	C	C	T	rs199526332		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:73498777C>T	ENST00000321617.3	-	18	2964	c.2378G>A	c.(2377-2379)cGa>cAa	p.R793Q	CASKIN2_ENST00000433559.2_Missense_Mutation_p.R711Q	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	793	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCGCTTAGGTCGAGGCGGGTC	0.716																																						uc002joc.2		NA																	0				pancreas(1)	1						c.(2377-2379)CGA>CAA		cask-interacting protein 2 isoform a		C	GLN/ARG,GLN/ARG	0,4322		0,0,2161	9.0	11.0	10.0		2132,2378	4.9	1.0	17		10	1,8509		0,1,4254	no	missense,missense	CASKIN2	NM_001142643.1,NM_020753.3	43,43	0,1,6415	TT,TC,CC		0.0118,0.0,0.0078	probably-damaging,probably-damaging	711/1121,793/1203	73498777	1,12831	2161	4255	6416	SO:0001583	missense	57513					cytoplasm		g.chr17:73498777C>T	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2378G>A	17.37:g.73498777C>T	ENSP00000325355:p.Arg793Gln					CASKIN2_uc010wsc.1_Missense_Mutation_p.R711Q	p.R793Q	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	2928	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		793			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.2378G>A	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417134	0.42918	0.0	1.18E-4	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.70399	-0.48;-0.31	4.87	4.87	0.63330	.	0.000000	0.41938	D	0.000799	T	0.55924	0.1951	L	0.32530	0.975	0.80722	D	1	B	0.26845	0.161	B	0.14578	0.011	T	0.58358	-0.7650	10	0.66056	D	0.02	.	8.3139	0.32088	0.0:0.891:0.0:0.109	.	793	Q8WXE0	CSKI2_HUMAN	Q	793;711	ENSP00000325355:R793Q;ENSP00000406963:R711Q	ENSP00000325355:R793Q	R	-	2	0	CASKIN2	71010372	0.985000	0.35326	1.000000	0.80357	0.486000	0.33341	1.766000	0.38491	2.537000	0.85549	0.491000	0.48974	CGA		0.716	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		5	17	0	0	0	0	5	17				
TMC6	11322	broad.mit.edu	37	17	76121048	76121048	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:76121048C>T	ENST00000590602.1	-	7	714	c.555G>A	c.(553-555)ccG>ccA	p.P185P	TMC6_ENST00000592076.1_5'Flank|TMC6_ENST00000591436.1_5'Flank|TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000322914.3_Silent_p.P185P|TMC6_ENST00000306591.7_Silent_p.P185P|TMC6_ENST00000392467.3_Silent_p.P185P|TMC6_ENST00000589553.1_Intron			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	185					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			ACTTCCCCCTCGGGGTCCTGC	0.682																																						uc002juj.1		NA																	0					0						c.(553-555)CCG>CCA		transmembrane channel-like 6							7.0	9.0	9.0					17																	76121048		2171	4267	6438	SO:0001819	synonymous_variant	11322	Epidermodysplasia_Verruciformis_Familial_Clustering_of				endoplasmic reticulum membrane|integral to membrane		g.chr17:76121048C>T	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.555G>A	17.37:g.76121048C>T						TMC6_uc002jui.1_5'Flank|TMC6_uc010dhf.1_Silent_p.P18P|TMC6_uc002juk.2_Silent_p.P185P|TMC6_uc010dhg.1_Silent_p.P185P|TMC6_uc002jul.1_Silent_p.P185P|TMC6_uc002jum.3_Silent_p.P18P|TMC6_uc002jun.3_Silent_p.P185P|TMC6_uc002juo.2_Intron|TMC6_uc010wtp.1_Silent_p.P18P	p.P185P	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		6	681	-			185			Lumenal (Potential).		O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Silent	SNP	ENST00000590602.1	37	c.555G>A	CCDS32748.1																																																																																				0.682	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			6	6	0	0	0	0	6	6				
RNF213	57674	broad.mit.edu	37	17	78345702	78345702	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:78345702G>A	ENST00000582970.1	+	47	12597	c.12454G>A	c.(12454-12456)Gaa>Aaa	p.E4152K	RNF213_ENST00000508628.2_Missense_Mutation_p.E4201K|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.E2225K	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4152					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTATATTCAGGAATATTTGAC	0.348																																						uc002jyh.1		NA																	0				ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(6673-6675)GAA>AAA		ring finger protein 213							74.0	73.0	73.0					17																	78345702		2203	4299	6502	SO:0001583	missense	57674							g.chr17:78345702G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.12454G>A	17.37:g.78345702G>A	ENSP00000464087:p.Glu4152Lys					uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.E607K	p.E2225K	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		22	6896	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.6673G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	1.226	-0.625500	0.03610	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.21734	1.99	5.28	-4.91	0.03085	.	1.203040	0.05562	N	0.569501	T	0.08223	0.0205	N	0.14661	0.345	0.09310	N	1	B;B	0.15930	0.001;0.015	B;B	0.15870	0.002;0.014	T	0.31447	-0.9943	10	0.08599	T	0.76	.	2.0112	0.03488	0.3504:0.2013:0.3454:0.1029	.	4201;2225	C9JCP4;Q63HN8	.;RN213_HUMAN	K	4152;4201;2225	ENSP00000338218:E2225K	ENSP00000338218:E2225K	E	+	1	0	RNF213	75960297	0.351000	0.24887	0.001000	0.08648	0.194000	0.23727	0.474000	0.22148	-0.798000	0.04444	0.561000	0.74099	GAA		0.348	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		15	51	0	0	0	0	15	51				
NARF	26502	broad.mit.edu	37	17	80442792	80442792	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:80442792G>C	ENST00000309794.11	+	9	1135	c.937G>C	c.(937-939)Gag>Cag	p.E313Q	NARF_ENST00000457415.3_Missense_Mutation_p.E359Q|NARF-IT1_ENST00000584012.1_RNA|NARF_ENST00000390006.4_Missense_Mutation_p.E254Q|NARF_ENST00000345415.7_Missense_Mutation_p.E265Q	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	313						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCTGTTCAACGAGGATGTGGA	0.572																																						uc002kfg.3		NA																	0				skin(1)	1						c.(937-939)GAG>CAG		nuclear prelamin A recognition factor isoform a							168.0	118.0	135.0					17																	80442792		2203	4300	6503	SO:0001583	missense	26502					lamin filament	lamin binding	g.chr17:80442792G>C	BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 2"""	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.937G>C	17.37:g.80442792G>C	ENSP00000309899:p.Glu313Gln					NARF_uc002kff.3_Missense_Mutation_p.E254Q|NARF_uc010wvp.1_3'UTR|NARF_uc010dit.2_Missense_Mutation_p.E359Q|NARF_uc002kfj.3_Missense_Mutation_p.E265Q|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Missense_Mutation_p.E359Q|NARF_uc002kfk.2_RNA	p.E313Q	NM_012336	NP_036468	Q9UHQ1	NARF_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		9	1077	+	Breast(20;0.00106)|all_neural(118;0.0804)		313					A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	ENST00000309794.11	37	c.937G>C	CCDS32777.1	.	.	.	.	.	.	.	.	.	.	.	12.33	1.905811	0.33628	.	.	ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000345415	T;T;T	0.43294	0.95;0.95;0.95	5.38	2.88	0.33553	Iron hydrogenase, large subunit, C-terminal (1);Iron hydrogenase (1);	0.199306	0.51477	D	0.000090	T	0.23410	0.0566	N	0.08118	0	0.80722	D	1	B;B;P;B	0.35433	0.445;0.219;0.501;0.26	B;B;B;B	0.44163	0.234;0.148;0.443;0.167	T	0.03945	-1.0990	10	0.21014	T	0.42	-22.6592	4.2433	0.10660	0.2281:0.0:0.5796:0.1923	.	359;265;360;313	Q9UHQ1-2;Q9UHQ1-3;E9PH27;Q9UHQ1	.;.;.;NARF_HUMAN	Q	254;360;313;265	ENSP00000374656:E254Q;ENSP00000309899:E313Q;ENSP00000283996:E265Q	ENSP00000309899:E313Q	E	+	1	0	NARF	78036081	0.443000	0.25641	0.756000	0.31282	0.943000	0.58893	0.900000	0.28431	2.516000	0.84829	0.561000	0.74099	GAG		0.572	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2	NM_031968		5	63	0	0	0	0	5	63				
TBCD	6904	broad.mit.edu	37	17	80885853	80885853	+	Missense_Mutation	SNP	C	C	G	rs376571705		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:80885853C>G	ENST00000355528.4	+	30	2812	c.2682C>G	c.(2680-2682)atC>atG	p.I894M	TBCD_ENST00000539345.2_Missense_Mutation_p.I894M	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	894					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CTGAGCTGATCGAGGCCCATA	0.642																																						uc002kfz.2		NA																	0					0						c.(2680-2682)ATC>ATG		beta-tubulin cofactor D							58.0	60.0	60.0					17																	80885853		2057	4207	6264	SO:0001583	missense	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80885853C>G	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.2682C>G	17.37:g.80885853C>G	ENSP00000347719:p.Ile894Met					TBCD_uc002kfy.1_Missense_Mutation_p.I894M|TBCD_uc002kgb.1_Missense_Mutation_p.I219M|TBCD_uc002kgc.2_Missense_Mutation_p.I39M|TBCD_uc002kgd.2_5'Flank	p.I894M	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		30	2812	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	894					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	c.2682C>G	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107281	0.37145	.	.	ENSG00000141556	ENST00000355528;ENST00000334614	T	0.69306	-0.39	5.17	-4.35	0.03656	Armadillo-like helical (1);Armadillo-type fold (1);	0.376195	0.28016	N	0.016927	T	0.66665	0.2812	M	0.62723	1.935	0.31567	N	0.656771	D;D;D	0.56968	0.978;0.961;0.978	P;P;P	0.57244	0.663;0.644;0.816	T	0.67360	-0.5690	9	.	.	.	.	7.1401	0.25552	0.0:0.2879:0.1249:0.5872	.	645;894;894	F8WC00;Q9BTW9;Q9BTW9-4	.;TBCD_HUMAN;.	M	894;645	ENSP00000347719:I894M	.	I	+	3	3	TBCD	78479142	0.054000	0.20591	0.116000	0.21606	0.385000	0.30292	-0.748000	0.04818	-0.598000	0.05806	-1.036000	0.02392	ATC		0.642	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		19	50	0	0	0	0	19	50				
ADCYAP1	116	broad.mit.edu	37	18	909481	909481	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:909481G>C	ENST00000579794.1	+	4	654	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	RP11-672L10.3_ENST00000582554.1_RNA|ADCYAP1_ENST00000450565.3_Missense_Mutation_p.E126Q|RP11-672L10.2_ENST00000581719.2_RNA	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	126					activation of adenylate cyclase activity (GO:0007190)|ATP metabolic process (GO:0046034)|behavioral fear response (GO:0001662)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|cellular response to glucocorticoid stimulus (GO:0071385)|female pregnancy (GO:0007565)|histamine secretion (GO:0001821)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of acute inflammatory response to non-antigenic stimulus (GO:0002878)|negative regulation of cell cycle (GO:0045786)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of Rho GTPase activity (GO:0034259)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|pituitary gland development (GO:0021983)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of somatostatin secretion (GO:0090274)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)|regulation of postsynaptic membrane potential (GO:0060078)|regulation of protein localization (GO:0032880)|response to ethanol (GO:0045471)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195)	neuropeptide hormone activity (GO:0005184)|peptide hormone receptor binding (GO:0051428)|pituitary adenylate cyclase activating polypeptide activity (GO:0016521)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)	p.E126K(1)		endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GGACGACGCGGAGCCGCTCTC	0.667																																						uc010dkg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(376-378)GAG>CAG		adenylate cyclase activating polypeptide							38.0	50.0	46.0					18																	909481		2202	4300	6502	SO:0001583	missense	116				activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding	g.chr18:909481G>C	S83513	CCDS11825.1	18p11	2013-02-28			ENSG00000141433	ENSG00000141433		"""Endogenous ligands"""	241	protein-coding gene	gene with protein product	"""prepro-PACAP"""	102980				1730060	Standard	NM_001099733		Approved	PACAP	uc010dkh.4	P18509	OTTHUMG00000131479	ENST00000579794.1:c.376G>C	18.37:g.909481G>C	ENSP00000462647:p.Glu126Gln					ADCYAP1_uc010dkh.2_Missense_Mutation_p.E126Q	p.E126Q	NM_001099733	NP_001093203	P18509	PACA_HUMAN			5	495	+			126					B2R7N4|Q52LQ0	Missense_Mutation	SNP	ENST00000579794.1	37	c.376G>C	CCDS11825.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432273	0.83776	.	.	ENSG00000141433	ENST00000450565;ENST00000400219;ENST00000269200	.	.	.	4.94	4.07	0.47477	.	0.286252	0.38111	N	0.001813	T	0.52597	0.1744	L	0.53249	1.67	0.46774	D	0.999191	P	0.43633	0.813	B	0.40410	0.328	T	0.52177	-0.8610	9	0.36615	T	0.2	.	13.1989	0.59756	0.0779:0.0:0.9221:0.0	.	126	P18509	PACA_HUMAN	Q	265;126;126	.	ENSP00000269200:E126Q	E	+	1	0	ADCYAP1	899481	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	6.739000	0.74827	1.082000	0.41137	0.579000	0.79373	GAG		0.667	ADCYAP1-003	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440765.3	NM_001117		21	54	0	0	0	0	21	54				
EPB41L3	23136	broad.mit.edu	37	18	5410589	5410589	+	Silent	SNP	G	G	A	rs140128908	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:5410589G>A	ENST00000341928.2	-	14	2437	c.2097C>T	c.(2095-2097)gcC>gcT	p.A699A	EPB41L3_ENST00000342933.3_Silent_p.A699A|EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000400111.3_Silent_p.A530A|EPB41L3_ENST00000540638.2_Silent_p.A530A|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Silent_p.A530A|EPB41L3_ENST00000427684.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	699	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCTCCCCGTCGGCTGCGGTGT	0.532													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17469	0.001		0.0	False		,,,				2504	0.0					uc002kmt.1		NA																	0				ovary(5)	5						c.(2095-2097)GCC>GCT		erythrocyte membrane protein band 4.1-like 3							101.0	65.0	77.0					18																	5410589		2203	4300	6503	SO:0001819	synonymous_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5410589G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2097C>T	18.37:g.5410589G>A						EPB41L3_uc010wzh.1_Silent_p.A530A|EPB41L3_uc002kmu.1_Silent_p.A530A|EPB41L3_uc010dkq.1_Silent_p.A421A|EPB41L3_uc002kms.1_5'UTR|EPB41L3_uc010wze.1_5'UTR|EPB41L3_uc010wzf.1_5'UTR|EPB41L3_uc010wzg.1_5'UTR|EPB41L3_uc010dkr.2_Silent_p.A91A	p.A699A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			14	2183	-			699			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	c.2097C>T	CCDS11838.1																																																																																				0.532	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		21	41	0	0	0	0	21	41				
PPP4R1	9989	broad.mit.edu	37	18	9570206	9570206	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:9570206C>A	ENST00000400556.3	-	11	1595	c.1522G>T	c.(1522-1524)Gaa>Taa	p.E508*	PPP4R1_ENST00000400555.3_Nonsense_Mutation_p.E491*	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	508					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						ATCATTTCTTCCAGTTCCTTT	0.428																																					Melanoma(188;1232 2082 5061 11948 35994)	uc002koe.1		NA																	0				skin(1)	1						c.(1522-1524)GAA>TAA		protein phosphatase 4, regulatory subunit 1							119.0	113.0	115.0					18																	9570206		1845	4088	5933	SO:0001587	stop_gained	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9570206C>A	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.1522G>T	18.37:g.9570206C>A	ENSP00000383402:p.Glu508*					PPP4R1_uc002kof.2_5'UTR|PPP4R1_uc010wzo.1_Nonsense_Mutation_p.E354*|PPP4R1_uc002kod.1_Nonsense_Mutation_p.E491*|PPP4R1_uc010wzp.1_RNA	p.E508*	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN			11	1640	-			508			HEAT 10.		Q99774|Q9UNQ7	Nonsense_Mutation	SNP	ENST00000400556.3	37	c.1522G>T	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	C	40	8.208912	0.98706	.	.	ENSG00000154845	ENST00000400556;ENST00000400555;ENST00000285124	.	.	.	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-27.0992	19.5973	0.95546	0.0:1.0:0.0:0.0	.	.	.	.	X	508;491;419	.	.	E	-	1	0	PPP4R1	9560206	1.000000	0.71417	0.937000	0.37676	0.995000	0.86356	6.241000	0.72369	2.700000	0.92200	0.591000	0.81541	GAA		0.428	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		53	174	1	0	1.54e-34	1.67e-34	53	174				
POTEC	388468	broad.mit.edu	37	18	14542978	14542978	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:14542978C>T	ENST00000358970.5	-	1	167	c.168G>A	c.(166-168)atG>atA	p.M56I	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	56										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCTCCTGAGCATCTTCATAA	0.587																																						uc010dln.2		NA																	0				skin(3)	3						c.(166-168)ATG>ATA		ANKRD26-like family B, member 2							51.0	59.0	57.0					18																	14542978		692	1591	2283	SO:0001583	missense	388468							g.chr18:14542978C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.168G>A	18.37:g.14542978C>T	ENSP00000351856:p.Met56Ile					POTEC_uc010xaj.1_RNA	p.M56I	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			1	622	-			56						Missense_Mutation	SNP	ENST00000358970.5	37	c.168G>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	c	0.990	-0.694176	0.03303	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.25912	1.77	0.448	-0.896	0.10557	.	.	.	.	.	T	0.09202	0.0227	N	0.08118	0	0.09310	N	1	B	0.20459	0.045	B	0.12156	0.007	T	0.26052	-1.0114	8	0.23302	T	0.38	.	.	.	.	.	56	B2RU33	POTEC_HUMAN	I	56	ENSP00000351856:M56I	ENSP00000351856:M56I	M	-	3	0	POTEC	14532978	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.135000	0.01306	-2.226000	0.00723	-1.541000	0.00910	ATG		0.587	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		59	621	0	0	0	0	59	621				
ROCK1	6093	broad.mit.edu	37	18	18629114	18629114	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:18629114G>A	ENST00000399799.2	-	4	1293	c.353C>T	c.(352-354)tCt>tTt	p.S118F		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	118	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					GAAAAAAGCAGAATCAGATCT	0.368																																						uc002kte.2		NA																	0				lung(2)|breast(2)|central_nervous_system(1)	5						c.(352-354)TCT>TTT		Rho-associated, coiled-coil containing protein							97.0	97.0	97.0					18																	18629114		2203	4300	6503	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18629114G>A		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.353C>T	18.37:g.18629114G>A	ENSP00000382697:p.Ser118Phe						p.S118F	NM_005406	NP_005397	Q13464	ROCK1_HUMAN			4	1294	-	Melanoma(1;0.165)		118			Protein kinase.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.353C>T	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	G	33	5.265849	0.95399	.	.	ENSG00000067900	ENST00000399799	T	0.66638	-0.22	5.94	5.94	0.96194	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78342	0.4268	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.78588	-0.2146	10	0.87932	D	0	.	20.3616	0.98856	0.0:0.0:1.0:0.0	.	118	Q13464	ROCK1_HUMAN	F	118	ENSP00000382697:S118F	ENSP00000382697:S118F	S	-	2	0	ROCK1	16883112	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.859000	0.99545	2.818000	0.97014	0.637000	0.83480	TCT		0.368	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		29	186	0	0	0	0	29	186				
ESCO1	114799	broad.mit.edu	37	18	19153502	19153502	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:19153502G>C	ENST00000269214.5	-	4	2240	c.1303C>G	c.(1303-1305)Caa>Gaa	p.Q435E		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	435					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						AACGTACTTTGAGTCACTGGA	0.348																																						uc002kth.1		NA																	0					0						c.(1303-1305)CAA>GAA		establishment of cohesion 1 homolog 1							73.0	75.0	75.0					18																	19153502		2203	4300	6503	SO:0001583	missense	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19153502G>C	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1303C>G	18.37:g.19153502G>C	ENSP00000269214:p.Gln435Glu					ESCO1_uc002kti.1_RNA	p.Q435E	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN			4	2237	-			435					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	c.1303C>G	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	G	8.433	0.848967	0.17034	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.60548	0.18;1.73	5.8	5.8	0.92144	.	0.448629	0.21125	N	0.079743	T	0.48750	0.1517	L	0.45581	1.43	0.18873	N	0.999989	B	0.13594	0.008	B	0.08055	0.003	T	0.30679	-0.9970	10	0.10636	T	0.68	-27.7761	14.5179	0.67830	0.0:0.1459:0.8541:0.0	.	435	Q5FWF5	ESCO1_HUMAN	E	435	ENSP00000269214:Q435E;ENSP00000372763:Q435E	ENSP00000269214:Q435E	Q	-	1	0	ESCO1	17407500	0.997000	0.39634	0.777000	0.31699	0.861000	0.49209	4.493000	0.60341	2.748000	0.94277	0.655000	0.94253	CAA		0.348	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		39	159	0	0	0	0	39	159				
RBBP8	5932	broad.mit.edu	37	18	20596847	20596847	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:20596847G>C	ENST00000399722.2	+	17	2765	c.2414G>C	c.(2413-2415)aGa>aCa	p.R805T	RBBP8_ENST00000360790.5_Missense_Mutation_p.R810T|RBBP8_ENST00000327155.5_Missense_Mutation_p.R805T|RBBP8_ENST00000581687.1_5'UTR|RBBP8_ENST00000399725.2_Intron	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	805					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AAAGAGGAGAGAAGAAAACTG	0.338								Homologous recombination																														uc002ktw.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(2413-2415)AGA>ACA	Direct_reversal_of_damage|Homologous_recombination	retinoblastoma binding protein 8 isoform a							102.0	105.0	104.0					18																	20596847		2203	4300	6503	SO:0001583	missense	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20596847G>C	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.2414G>C	18.37:g.20596847G>C	ENSP00000382628:p.Arg805Thr					RBBP8_uc002kty.2_Missense_Mutation_p.R805T|RBBP8_uc002ktz.2_Intron|RBBP8_uc002kua.2_Missense_Mutation_p.R810T|RBBP8_uc010xap.1_Missense_Mutation_p.R143T	p.R805T	NM_002894	NP_002885	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		17	2745	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		805					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	ENST00000399722.2	37	c.2414G>C	CCDS11875.1	.	.	.	.	.	.	.	.	.	.	g	25.1	4.603552	0.87157	.	.	ENSG00000101773	ENST00000327155;ENST00000399722;ENST00000360790	T;T;T	0.67345	-0.26;-0.26;-0.25	5.33	5.33	0.75918	.	0.047655	0.85682	D	0.000000	D	0.85053	0.5609	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87909	0.2696	10	0.87932	D	0	-3.0552	18.011	0.89224	0.0:0.0:1.0:0.0	.	810;805	E7ETY1;Q99708	.;COM1_HUMAN	T	805;805;810	ENSP00000323050:R805T;ENSP00000382628:R805T;ENSP00000354024:R810T	ENSP00000323050:R805T	R	+	2	0	RBBP8	18850845	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.060000	0.93907	2.493000	0.84123	0.637000	0.83480	AGA		0.338	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		19	102	0	0	0	0	19	102				
HRH4	59340	broad.mit.edu	37	18	22048902	22048902	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:22048902C>T	ENST00000256906.4	+	2	444	c.344C>T	c.(343-345)tCa>tTa	p.S115L	HRH4_ENST00000426880.2_Intron	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	115					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	CGATACCTGTCAGTCTCAAAT	0.348																																						uc002kvi.2		NA																	0				ovary(2)	2						c.(343-345)TCA>TTA		histamine H4 receptor isoform 1	Clozapine(DB00363)						135.0	113.0	120.0					18																	22048902		2203	4300	6503	SO:0001583	missense	59340					integral to membrane|plasma membrane	histamine receptor activity	g.chr18:22048902C>T	AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"""GPCR / Class A : Histamine receptors"""	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.344C>T	18.37:g.22048902C>T	ENSP00000256906:p.Ser115Leu					HRH4_uc010xbd.1_Intron|HRH4_uc010dlx.2_Intron	p.S115L	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN			2	444	+	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		115			Cytoplasmic (Potential).		B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Missense_Mutation	SNP	ENST00000256906.4	37	c.344C>T	CCDS11887.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727786	0.69074	.	.	ENSG00000134489	ENST00000256906	T	0.37584	1.19	5.63	3.69	0.42338	GPCR, rhodopsin-like superfamily (1);	0.078525	0.52532	D	0.000076	T	0.47637	0.1456	M	0.75615	2.305	0.80722	D	1	P	0.43701	0.815	P	0.50109	0.631	T	0.51949	-0.8640	10	0.87932	D	0	-13.1324	10.5666	0.45175	0.0:0.7934:0.1326:0.074	.	115	Q9H3N8	HRH4_HUMAN	L	115	ENSP00000256906:S115L	ENSP00000256906:S115L	S	+	2	0	HRH4	20302900	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.429000	0.52800	2.641000	0.89580	0.655000	0.94253	TCA		0.348	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254904.1			21	116	0	0	0	0	21	116				
B4GALT6	9331	broad.mit.edu	37	18	29211016	29211016	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:29211016C>T	ENST00000306851.5	-	6	978	c.682G>A	c.(682-684)Gat>Aat	p.D228N	B4GALT6_ENST00000383131.3_Missense_Mutation_p.D189N|B4GALT6_ENST00000237019.7_Missense_Mutation_p.D189N	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	228					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			TGATCCACATCGTGGAAGATT	0.433																																						uc002kwz.3		NA																	0					0						c.(682-684)GAT>AAT		beta-1,4-galactosyltransferase 6							132.0	116.0	121.0					18																	29211016		2203	4300	6503	SO:0001583	missense	9331				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding	g.chr18:29211016C>T	AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"""Beta 4-glycosyltransferases"""	929	protein-coding gene	gene with protein product	"""UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"""	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.682G>A	18.37:g.29211016C>T	ENSP00000306459:p.Asp228Asn					B4GALT6_uc010dma.2_Missense_Mutation_p.D189N|B4GALT6_uc010dmb.2_Missense_Mutation_p.D189N	p.D228N	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00791)		6	979	-			228			Lumenal (Potential).		O60514|Q6NT09	Missense_Mutation	SNP	ENST00000306851.5	37	c.682G>A	CCDS11900.1	.	.	.	.	.	.	.	.	.	.	C	36	5.624289	0.96660	.	.	ENSG00000118276	ENST00000306851;ENST00000237019;ENST00000383131	T;T;T	0.61158	0.13;0.13;0.13	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.83718	0.5315	H	0.94385	3.53	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	D	0.87747	0.2589	10	0.87932	D	0	-17.3693	19.7586	0.96304	0.0:1.0:0.0:0.0	.	189;189;228	Q6NT09;G3XA83;Q9UBX8	.;.;B4GT6_HUMAN	N	228;189;189	ENSP00000306459:D228N;ENSP00000237019:D189N;ENSP00000372613:D189N	ENSP00000237019:D189N	D	-	1	0	B4GALT6	27465014	1.000000	0.71417	0.972000	0.41901	0.960000	0.62799	7.750000	0.85110	2.754000	0.94517	0.585000	0.79938	GAT		0.433	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254942.2	NM_004775		37	81	0	0	0	0	37	81				
EPG5	57724	broad.mit.edu	37	18	43534974	43534974	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:43534974C>T	ENST00000282041.5	-	2	428	c.394G>A	c.(394-396)Gta>Ata	p.V132I		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	132					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GGGGTTTCTACTTTAGTTCCA	0.493																																						uc002lbm.2		NA																	0					0						c.(394-396)GTA>ATA		hypothetical protein LOC57724							107.0	101.0	103.0					18																	43534974		1886	4109	5995	SO:0001583	missense	57724				autophagy			g.chr18:43534974C>T	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.394G>A	18.37:g.43534974C>T	ENSP00000282041:p.Val132Ile					KIAA1632_uc002lbo.1_Missense_Mutation_p.V132I	p.V132I	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			2	494	-			132					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.394G>A	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	3.995	-0.003708	0.07773	.	.	ENSG00000152223	ENST00000282041	T	0.12569	2.67	5.76	1.72	0.24424	.	0.971401	0.08486	N	0.938673	T	0.07143	0.0181	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.45279	-0.9272	10	0.15499	T	0.54	1.1681	1.7633	0.02996	0.29:0.3115:0.2574:0.1411	.	132;132	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	I	132	ENSP00000282041:V132I	ENSP00000282041:V132I	V	-	1	0	EPG5	41788972	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.203000	0.17315	-0.003000	0.14444	0.563000	0.77884	GTA		0.493	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		46	89	0	0	0	0	46	89				
HDHD2	84064	broad.mit.edu	37	18	44660911	44660911	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:44660911C>T	ENST00000300605.6	-	3	418	c.266G>A	c.(265-267)aGa>aAa	p.R89K	HDHD2_ENST00000587841.1_Intron	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	89						extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						CAGCATGGGTCTGACTTGTTT	0.363																																						uc002lcs.2		NA																	0					0						c.(265-267)AGA>AAA		haloacid dehalogenase-like hydrolase domain							103.0	101.0	101.0					18																	44660911		2203	4300	6503	SO:0001583	missense	84064						hydrolase activity	g.chr18:44660911C>T	AL136681	CCDS32829.1	18q21.1	2008-02-05				ENSG00000167220			25364	protein-coding gene	gene with protein product						11230166	Standard	NM_032124		Approved	DKFZP564D1378	uc002lcs.3	Q9H0R4		ENST00000300605.6:c.266G>A	18.37:g.44660911C>T	ENSP00000300605:p.Arg89Lys					HDHD2_uc002lct.2_5'UTR	p.R89K	NM_032124	NP_115500	Q9H0R4	HDHD2_HUMAN			3	399	-			89					A8K7T3|Q96NV4	Missense_Mutation	SNP	ENST00000300605.6	37	c.266G>A	CCDS32829.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074911	0.76415	.	.	ENSG00000167220	ENST00000300605	T	0.21191	2.02	5.97	5.97	0.96955	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);Nitrophenylphosphatase-like  domain (1);	0.000000	0.85682	D	0.000000	T	0.28599	0.0708	M	0.71871	2.18	0.53688	D	0.999979	B	0.21606	0.058	B	0.30105	0.111	T	0.26883	-1.0090	10	0.06365	T	0.9	1.5478	20.4388	0.99107	0.0:1.0:0.0:0.0	.	89	Q9H0R4	HDHD2_HUMAN	K	89	ENSP00000300605:R89K	ENSP00000300605:R89K	R	-	2	0	HDHD2	42914909	0.998000	0.40836	0.998000	0.56505	0.994000	0.84299	5.317000	0.65822	2.836000	0.97738	0.655000	0.94253	AGA		0.363	HDHD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450668.2	NM_032124		44	76	0	0	0	0	44	76				
DYM	54808	broad.mit.edu	37	18	46905007	46905007	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:46905007G>A	ENST00000269445.6	-	5	808	c.351C>T	c.(349-351)ttC>ttT	p.F117F	DYM_ENST00000442713.2_Intron|DYM_ENST00000578396.1_5'UTR	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	117					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						TCTGACAGATGAACACTTTCA	0.323																																						uc002ldi.1		NA																	0					0						c.(349-351)TTC>TTT		dymeclin							84.0	79.0	81.0					18																	46905007		2203	4299	6502	SO:0001819	synonymous_variant	54808					Golgi apparatus		g.chr18:46905007G>A	AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.351C>T	18.37:g.46905007G>A						DYM_uc010xdf.1_Intron	p.F117F	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN			5	716	-			117					A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Silent	SNP	ENST00000269445.6	37	c.351C>T	CCDS11937.1																																																																																				0.323	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653		20	40	0	0	0	0	20	40				
CXXC1	30827	broad.mit.edu	37	18	47810269	47810269	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:47810269C>T	ENST00000285106.6	-	10	2122	c.1408G>A	c.(1408-1410)Gag>Aag	p.E470K	MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000590208.1_5'Flank|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000585672.1_5'Flank|MBD1_ENST00000585595.1_5'Flank|MBD1_ENST00000424334.2_5'Flank|CXXC1_ENST00000412036.2_Missense_Mutation_p.E474K|CXXC1_ENST00000589940.1_Missense_Mutation_p.E470K|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000436910.1_5'Flank|CXXC1_ENST00000587396.1_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000349085.2_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	470					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CTCACCTCCTCATCCTCGCGC	0.582																																						uc002leq.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1408-1410)GAG>AAG		CXXC finger 1 (PHD domain) isoform 2							156.0	144.0	148.0					18																	47810269		2203	4300	6503	SO:0001583	missense	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47810269C>T	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1408G>A	18.37:g.47810269C>T	ENSP00000285106:p.Glu470Lys					MBD1_uc002leg.2_5'Flank|MBD1_uc010dow.1_5'Flank|MBD1_uc010xdi.1_5'Flank|MBD1_uc002leh.3_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc002lei.3_5'Flank|MBD1_uc002lej.3_5'Flank|MBD1_uc002lek.3_5'Flank|MBD1_uc002lel.3_5'Flank|MBD1_uc002lem.3_5'Flank|MBD1_uc010xdj.1_5'Flank|MBD1_uc010xdk.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Missense_Mutation_p.E327K|CXXC1_uc002ler.3_Missense_Mutation_p.E474K|CXXC1_uc010doy.2_Missense_Mutation_p.E470K|CXXC1_uc002les.2_Missense_Mutation_p.E470K	p.E470K	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN			10	2141	-			470			Potential.		B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.1408G>A	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618323	0.87359	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.24350	1.86;1.86	4.65	4.65	0.58169	CpG binding protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.41811	0.1175	L	0.43152	1.355	0.80722	D	1	D;D;D;D	0.63046	0.99;0.99;0.992;0.989	D;D;D;D	0.67231	0.925;0.916;0.95;0.931	T	0.22977	-1.0201	10	0.52906	T	0.07	-28.8354	15.3793	0.74641	0.0:1.0:0.0:0.0	.	470;474;470;337	B2RC03;Q9P0U4-2;Q9P0U4;Q59EC8	.;.;CXXC1_HUMAN;.	K	470;474	ENSP00000285106:E470K;ENSP00000390475:E474K	ENSP00000285106:E470K	E	-	1	0	CXXC1	46064267	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.082000	0.76851	2.290000	0.77057	0.467000	0.42956	GAG		0.582	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		86	159	0	0	0	0	86	159				
SMAD4	4089	broad.mit.edu	37	18	48575103	48575103	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:48575103G>C	ENST00000342988.3	+	3	835	c.297G>C	c.(295-297)tgG>tgC	p.W99C	SMAD4_ENST00000588745.1_Missense_Mutation_p.W99C|SMAD4_ENST00000452201.2_Missense_Mutation_p.W99C|SMAD4_ENST00000398417.2_Missense_Mutation_p.W99C|RP11-729L2.2_ENST00000590722.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	99	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CCCGTCTCTGGAGGTGGCCTG	0.378																																						uc010xdp.1		NA																	40	Whole gene deletion(36)|Unknown(4)	p.0?(35)|p.?(4)|p.W99R(1)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)|NS(1)	pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369						c.(295-297)TGG>TGC		mothers against decapentaplegic homolog 4							157.0	144.0	148.0					18																	48575103		2203	4300	6503	SO:0001583	missense	4089	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia			BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48575103G>C	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.297G>C	18.37:g.48575103G>C	ENSP00000341551:p.Trp99Cys					SMAD4_uc010xdo.1_RNA	p.W99C	NM_005359	NP_005350	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	3	835	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	99			MH1.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.297G>C	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374214	0.82573	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	T;T;T	0.77620	-1.11;-1.11;-1.11	5.32	5.32	0.75619	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.91002	0.7170	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93068	0.6480	10	0.87932	D	0	.	17.7655	0.88476	0.0:0.0:1.0:0.0	.	99	Q13485	SMAD4_HUMAN	C	99	ENSP00000409551:W99C;ENSP00000341551:W99C;ENSP00000381452:W99C	ENSP00000341551:W99C	W	+	3	0	SMAD4	46829101	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.836000	0.99456	2.463000	0.83235	0.585000	0.79938	TGG		0.378	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		37	59	0	0	0	0	37	59				
CPLX4	339302	broad.mit.edu	37	18	56964048	56964048	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:56964048G>C	ENST00000299721.3	-	3	551	c.365C>G	c.(364-366)tCt>tGt	p.S122C	CPLX4_ENST00000587244.1_Intron	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	122					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter secretion (GO:0046928)	cell junction (GO:0030054)|membrane (GO:0016020)|synapse (GO:0045202)				autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				CCCAAGAATAGAATCTTTATC	0.428																																						uc002lhy.2		NA																	0				ovary(1)	1						c.(364-366)TCT>TGT		complexin 4 precursor							125.0	114.0	118.0					18																	56964048		2203	4300	6503	SO:0001583	missense	339302				exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding	g.chr18:56964048G>C	AY286502	CCDS11973.1	18q21.32	2005-08-02			ENSG00000166569	ENSG00000166569			24330	protein-coding gene	gene with protein product		609586				15911881	Standard	NM_181654		Approved	CPX-IV	uc002lhy.3	Q7Z7G2	OTTHUMG00000132756	ENST00000299721.3:c.365C>G	18.37:g.56964048G>C	ENSP00000299721:p.Ser122Cys						p.S122C	NM_181654	NP_857637	Q7Z7G2	CPLX4_HUMAN			3	552	-		Colorectal(73;0.175)	122					F1T0L6	Missense_Mutation	SNP	ENST00000299721.3	37	c.365C>G	CCDS11973.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699203	0.88830	.	.	ENSG00000166569	ENST00000299721	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.83608	0.5291	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.85059	0.0933	9	0.72032	D	0.01	1.4535	19.3422	0.94347	0.0:0.0:1.0:0.0	.	122	Q7Z7G2	CPLX4_HUMAN	C	122	.	ENSP00000299721:S122C	S	-	2	0	CPLX4	55115028	1.000000	0.71417	0.945000	0.38365	0.969000	0.65631	9.393000	0.97256	2.653000	0.90120	0.561000	0.74099	TCT		0.428	CPLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256127.1	NM_181654		19	57	0	0	0	0	19	57				
ZNF407	55628	broad.mit.edu	37	18	72343890	72343890	+	Silent	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr18:72343890A>G	ENST00000299687.5	+	1	915	c.915A>G	c.(913-915)ccA>ccG	p.P305P	ZNF407_ENST00000309902.6_Silent_p.P305P|ZNF407_ENST00000582337.1_Silent_p.P305P|ZNF407_ENST00000577538.1_Silent_p.P305P	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ACTCAAAACCAAGAACTTCTA	0.343																																						uc002llw.2		NA																	0				ovary(2)	2						c.(913-915)CCA>CCG		zinc finger protein 407 isoform 1							102.0	104.0	103.0					18																	72343890		1834	4089	5923	SO:0001819	synonymous_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72343890A>G	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.915A>G	18.37:g.72343890A>G						ZNF407_uc010xfc.1_Silent_p.P305P|ZNF407_uc010dqu.1_Silent_p.P305P|ZNF407_uc002llu.2_Silent_p.P304P	p.P305P	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	972	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	305					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	c.915A>G	CCDS45885.1																																																																																				0.343	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		46	67	0	0	0	0	46	67				
R3HDM4	91300	broad.mit.edu	37	19	900136	900136	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:900136G>C	ENST00000361574.5	-	5	559	c.486C>G	c.(484-486)gcC>gcG	p.A162A	R3HDM4_ENST00000587975.1_Silent_p.A141A	NM_138774.3	NP_620129.2	Q96D70	R3HD4_HUMAN	R3H domain containing 4	162	Arg-rich.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)										GGGGTGTATAGGCGGGGTCCT	0.692																																						uc002lqg.2		NA																	0				pancreas(1)	1						c.(484-486)GCC>GCG		hypothetical protein LOC91300							25.0	32.0	30.0					19																	900136		2201	4291	6492	SO:0001819	synonymous_variant	91300					nucleus	nucleic acid binding	g.chr19:900136G>C	BC012775	CCDS12048.1	19p13.3	2011-11-23	2011-11-23	2011-11-23	ENSG00000198858	ENSG00000198858			28270	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 22"""	C19orf22		12477932	Standard	NM_138774		Approved	MGC16353	uc002lqg.2	Q96D70		ENST00000361574.5:c.486C>G	19.37:g.900136G>C						C19orf22_uc002lqh.2_Silent_p.A141A|C19orf22_uc002lqi.2_Missense_Mutation_p.L162V|C19orf22_uc002lqj.2_Silent_p.A40A	p.A162A	NM_138774	NP_620129	Q96D70	CS022_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	554	-		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	162			Arg-rich.			Silent	SNP	ENST00000361574.5	37	c.486C>G	CCDS12048.1																																																																																				0.692	R3HDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458209.1	NM_138774		25	42	0	0	0	0	25	42				
HMHA1	23526	broad.mit.edu	37	19	1080711	1080711	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:1080711C>A	ENST00000313093.2	+	16	2174	c.1943C>A	c.(1942-1944)tCc>tAc	p.S648Y	HMHA1_ENST00000590577.1_Missense_Mutation_p.S283Y|HMHA1_ENST00000539243.2_Missense_Mutation_p.S664Y|HMHA1_ENST00000543365.1_Missense_Mutation_p.S531Y|HMHA1_ENST00000586866.1_Missense_Mutation_p.S652Y|HMHA1_ENST00000536472.1_Missense_Mutation_p.S516Y|HMHA1_ENST00000590214.1_Missense_Mutation_p.S675Y	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	648				S -> F (in Ref. 3; BAG62086). {ECO:0000305}.	regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGACGTCATCCAGTGGTACC	0.652																																						uc002lqz.1		NA																	0				lung(1)	1						c.(1942-1944)TCC>TAC		minor histocompatibility antigen HA-1							44.0	47.0	46.0					19																	1080711		2203	4299	6502	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1080711C>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.1943C>A	19.37:g.1080711C>A	ENSP00000316772:p.Ser648Tyr					HMHA1_uc010xgd.1_Missense_Mutation_p.S664Y|HMHA1_uc010xge.1_Missense_Mutation_p.S516Y|HMHA1_uc002lra.1_Missense_Mutation_p.S488Y|HMHA1_uc002lrb.1_Missense_Mutation_p.S531Y|HMHA1_uc002lrc.1_Missense_Mutation_p.S283Y|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank	p.S648Y	NM_012292	NP_036424	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	16	2174	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	648					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.1943C>A	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184968	0.78677	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.38887	1.13;1.13;1.11;1.15	4.03	4.03	0.46877	.	0.000000	0.85682	U	0.000000	T	0.66376	0.2783	M	0.85859	2.78	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.994;0.991;0.996;0.991;0.985	T	0.71656	-0.4527	10	0.52906	T	0.07	-29.346	13.2962	0.60298	0.0:1.0:0.0:0.0	.	516;664;283;531;648	F5H4A3;F6QP70;B3KVA9;F5H1R4;Q92619	.;.;.;.;HMHA1_HUMAN	Y	664;648;648;516;642;531	ENSP00000439601:S664Y;ENSP00000316772:S648Y;ENSP00000445109:S516Y;ENSP00000438979:S531Y	ENSP00000316772:S648Y	S	+	2	0	HMHA1	1031711	1.000000	0.71417	0.917000	0.36280	0.754000	0.42855	4.934000	0.63491	1.795000	0.52594	0.555000	0.69702	TCC		0.652	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			18	64	1	0	8.28e-16	8.79e-16	18	64				
MIDN	90007	broad.mit.edu	37	19	1254429	1254429	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:1254429C>T	ENST00000591446.2	+	4	1057	c.648C>T	c.(646-648)atC>atT	p.I216I	MIDN_ENST00000300952.2_Silent_p.I216I			Q504T8	MIDN_HUMAN	midnolin	216						cytosol (GO:0005829)|nucleolus (GO:0005730)				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCGCCCATCACAGCCGGCT	0.711																																						uc002lrp.2		NA																	0					0						c.(646-648)ATC>ATT		midnolin							13.0	15.0	14.0					19																	1254429		2162	4257	6419	SO:0001819	synonymous_variant	90007					nucleolus		g.chr19:1254429C>T	AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.648C>T	19.37:g.1254429C>T							p.I216I	NM_177401	NP_796375	Q504T8	MIDN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1163	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	216					Q96BW8	Silent	SNP	ENST00000591446.2	37	c.648C>T	CCDS32864.1																																																																																				0.711	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2			3	4	0	0	0	0	3	4				
C19orf35	374872	broad.mit.edu	37	19	2275792	2275792	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:2275792C>G	ENST00000342063.3	-	4	1402	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	437										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCCCGCTCTGCTAGGCGC	0.741																																						uc002lvn.2		NA																	0				pancreas(1)	1						c.(1309-1311)GAG>CAG		hypothetical protein LOC374872							8.0	7.0	7.0					19																	2275792		2175	4228	6403	SO:0001583	missense	374872							g.chr19:2275792C>G	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.1309G>C	19.37:g.2275792C>G	ENSP00000345102:p.Glu437Gln					SPPL2B_uc010dsw.1_Intron	p.E437Q	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1409	-			437						Missense_Mutation	SNP	ENST00000342063.3	37	c.1309G>C	CCDS12087.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533233	0.45073	.	.	ENSG00000188305	ENST00000342063	T	0.37058	1.22	2.96	2.96	0.34315	.	.	.	.	.	T	0.56848	0.2013	M	0.70595	2.14	0.27222	N	0.959629	D	0.89917	1.0	D	0.87578	0.998	T	0.45454	-0.9260	9	0.87932	D	0	.	10.6654	0.45728	0.0:1.0:0.0:0.0	.	437	Q6ZS72	CS035_HUMAN	Q	437	ENSP00000345102:E437Q	ENSP00000345102:E437Q	E	-	1	0	C19orf35	2226792	0.996000	0.38824	0.014000	0.15608	0.011000	0.07611	3.816000	0.55658	1.492000	0.48499	0.436000	0.28706	GAG		0.741	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		3	5	0	0	0	0	3	5				
LMNB2	84823	broad.mit.edu	37	19	2438470	2438470	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:2438470G>A	ENST00000582871.1	-	3	487	c.401C>T	c.(400-402)tCc>tTc	p.S134F	LMNB2_ENST00000325327.3_Missense_Mutation_p.S154F	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	134	Coil 1B.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGAACAGGGACTCCAGGTC	0.662																																						uc002lvy.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(400-402)TCC>TTC		lamin B2							30.0	26.0	28.0					19																	2438470		2203	4299	6502	SO:0001583	missense	84823					nuclear inner membrane	structural molecule activity	g.chr19:2438470G>A	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.401C>T	19.37:g.2438470G>A	ENSP00000462730:p.Ser134Phe					LMNB2_uc002lwa.1_Missense_Mutation_p.S154F	p.S134F	NM_032737	NP_116126	Q03252	LMNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	488	-		Hepatocellular(1079;0.137)	134			Rod.|Coil 1B.		O75292|Q14734|Q96DF6	Missense_Mutation	SNP	ENST00000582871.1	37	c.401C>T		.	.	.	.	.	.	.	.	.	.	G	17.17	3.321199	0.60634	.	.	ENSG00000176619	ENST00000325327	D	0.89343	-2.5	4.38	3.34	0.38264	Filament (1);	0.334308	0.29040	N	0.013322	D	0.91516	0.7321	M	0.78049	2.395	0.42024	D	0.99099	P	0.37370	0.592	P	0.50896	0.653	D	0.90789	0.4685	10	0.87932	D	0	.	8.4359	0.32786	0.1943:0.0:0.8057:0.0	.	134	Q03252	LMNB2_HUMAN	F	134	ENSP00000327054:S134F	ENSP00000327054:S134F	S	-	2	0	LMNB2	2389470	0.997000	0.39634	0.667000	0.29798	0.849000	0.48306	3.151000	0.50670	0.829000	0.34733	0.561000	0.74099	TCC		0.662	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737		13	26	0	0	0	0	13	26				
NFIC	4782	broad.mit.edu	37	19	3435121	3435121	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:3435121G>C	ENST00000443272.2	+	6	925	c.874G>C	c.(874-876)Gac>Cac	p.D292H	NFIC_ENST00000590282.1_Missense_Mutation_p.D292H|NFIC_ENST00000346156.5_Missense_Mutation_p.D259H|NFIC_ENST00000395111.3_Missense_Mutation_p.D283H|NFIC_ENST00000341919.3_Missense_Mutation_p.D292H|NFIC_ENST00000586919.1_Missense_Mutation_p.D259H|NFIC_ENST00000589123.1_Missense_Mutation_p.D283H	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	292					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GGAAGACGTGGACACGAGCCC	0.662																																						uc010xhi.1		NA																	0					0						c.(874-876)GAC>CAC		nuclear factor I/C isoform 2							38.0	29.0	32.0					19																	3435121		2202	4299	6501	SO:0001583	missense	4782				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3435121G>C	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.874G>C	19.37:g.3435121G>C	ENSP00000396843:p.Asp292His					NFIC_uc002lxo.2_Missense_Mutation_p.D283H|NFIC_uc010xhh.1_Missense_Mutation_p.D283H|NFIC_uc002lxp.2_Missense_Mutation_p.D292H|NFIC_uc010xhj.1_Missense_Mutation_p.D292H|NFIC_uc002lxq.1_Missense_Mutation_p.D244H	p.D292H	NM_205843	NP_995315	P08651	NFIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)	6	936	+		Hepatocellular(1079;0.137)	292					A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	ENST00000443272.2	37	c.874G>C	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	G	32	5.161915	0.94727	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.61158	0.13;0.13;0.13	4.59	4.59	0.56863	.	0.396017	0.24620	N	0.036978	T	0.70753	0.3260	L	0.55481	1.735	0.54753	D	0.999988	D;D;D;D;P	0.76494	0.979;0.999;0.974;0.988;0.955	P;D;P;P;P	0.66847	0.873;0.947;0.8;0.724;0.8	T	0.74447	-0.3662	10	0.72032	D	0.01	.	15.9897	0.80193	0.0:0.0:1.0:0.0	.	292;292;283;292;283	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	H	283;283;259;292;292;292	ENSP00000378543:D283H;ENSP00000301935:D259H;ENSP00000342194:D292H	ENSP00000269778:D292H	D	+	1	0	NFIC	3386121	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.088000	0.89523	2.093000	0.63338	0.561000	0.74099	GAC		0.662	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597		4	4	0	0	0	0	4	4				
TJP3	27134	broad.mit.edu	37	19	3734394	3734394	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:3734394C>T	ENST00000541714.2	+	8	1409	c.947C>T	c.(946-948)gCt>gTt	p.A316V	TJP3_ENST00000589378.1_Missense_Mutation_p.A325V|TJP3_ENST00000262968.9_Missense_Mutation_p.A349V|TJP3_ENST00000587686.1_Missense_Mutation_p.A335V|TJP3_ENST00000382008.3_Missense_Mutation_p.A330V|TJP3_ENST00000539908.2_Missense_Mutation_p.A280V	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	316					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCGGCATGCTCAGCGGAGC	0.637																																						uc010xhv.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1045-1047)GCT>GTT		tight junction protein 3							68.0	62.0	64.0					19																	3734394		2203	4300	6503	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3734394C>T	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.947C>T	19.37:g.3734394C>T	ENSP00000439278:p.Ala316Val					TJP3_uc010xhs.1_Missense_Mutation_p.A316V|TJP3_uc010xht.1_Missense_Mutation_p.A280V|TJP3_uc010xhu.1_Missense_Mutation_p.A325V|TJP3_uc010xhw.1_Missense_Mutation_p.A335V	p.A349V	NM_014428	NP_055243	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1046	+			330					A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.1046C>T	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	C	11.08	1.532936	0.27387	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.08008	3.14;3.27;3.17;3.27	4.28	-2.36	0.06663	.	2.095320	0.02017	N	0.047478	T	0.05868	0.0153	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.23249	0.063;0.082;0.049;0.063	B;B;B;B	0.25140	0.05;0.058;0.026;0.05	T	0.38672	-0.9650	10	0.37606	T	0.19	.	6.6639	0.23029	0.0834:0.5158:0.2878:0.1131	.	335;349;330;316	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	V	316;280;330;349	ENSP00000439278:A316V;ENSP00000439991:A280V;ENSP00000371438:A330V;ENSP00000262968:A349V	ENSP00000262968:A349V	A	+	2	0	TJP3	3685394	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.055000	0.11807	-0.208000	0.10171	-0.311000	0.09066	GCT		0.637	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			13	61	0	0	0	0	13	61				
EEF2	1938	broad.mit.edu	37	19	3982347	3982347	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:3982347C>T	ENST00000309311.6	-	5	776	c.688G>A	c.(688-690)Gag>Aag	p.E230K	EEF2_ENST00000600720.1_5'Flank|SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	230	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		ACATACATCTCGGCAAACTGC	0.597																																					Colon(165;1804 1908 4071 6587 18799)	uc002lze.2		NA																	0					0						c.(688-690)GAG>AAG		eukaryotic translation elongation factor 2							81.0	80.0	80.0					19																	3982347		2203	4300	6503	SO:0001583	missense	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3982347C>T	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.688G>A	19.37:g.3982347C>T	ENSP00000307940:p.Glu230Lys						p.E230K	NM_001961	NP_001952	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	5	771	-		Hepatocellular(1079;0.137)	230					B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	ENST00000309311.6	37	c.688G>A	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228516	0.58777	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	T	0.29917	1.55	5.81	4.78	0.61160	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	L	0.39397	1.21	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.25328	-1.0135	10	0.02654	T	1	-63.1271	13.9308	0.63994	0.0:0.9272:0.0:0.0728	.	230	P13639	EF2_HUMAN	K	230	ENSP00000307940:E230K	ENSP00000307940:E230K	E	-	1	0	EEF2	3933347	1.000000	0.71417	0.888000	0.34837	0.887000	0.51463	7.773000	0.85462	1.469000	0.48083	0.561000	0.74099	GAG		0.597	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		34	87	0	0	0	0	34	87				
ZNRF4	148066	broad.mit.edu	37	19	5456015	5456015	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:5456015G>A	ENST00000222033.4	+	1	590	c.513G>A	c.(511-513)aaG>aaA	p.K171K		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	171	PA.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		TCGACCTCAAGGTGCTGAACG	0.667																																						uc002mca.3		NA																	0				large_intestine(2)	2						c.(511-513)AAG>AAA		zinc and ring finger 4 precursor							41.0	43.0	42.0					19																	5456015		2143	4239	6382	SO:0001819	synonymous_variant	148066					integral to membrane	zinc ion binding	g.chr19:5456015G>A	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.513G>A	19.37:g.5456015G>A							p.K171K	NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	590	+			171			Extracellular (Potential).|PA.		A8K886|O75866	Silent	SNP	ENST00000222033.4	37	c.513G>A	CCDS42475.1																																																																																				0.667	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		19	62	0	0	0	0	19	62				
KHSRP	8570	broad.mit.edu	37	19	6427441	6427441	+	5'Flank	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:6427441G>A	ENST00000398148.3	-	0	0				SLC25A41_ENST00000321510.6_Silent_p.I232I	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						CTCGCTGCAAGATCTGCCTGG	0.627																																					Colon(55;593 1006 2067 9135 22980)	uc010dus.2		NA																	0					0						c.(694-696)ATC>ATT		solute carrier family 25, member 41							27.0	33.0	31.0					19																	6427441		2199	4298	6497	SO:0001631	upstream_gene_variant	284427				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:6427441G>A	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945			19.37:g.6427441G>A	Exception_encountered					KHSRP_uc002mer.3_5'Flank|SLC25A41_uc010dut.2_Silent_p.I94I	p.I232I	NM_173637	NP_775908	Q8N5S1	S2541_HUMAN			5	782	-			232			Solcar 2.		O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Silent	SNP	ENST00000398148.3	37	c.696C>T	CCDS45936.1																																																																																				0.627	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1			5	12	0	0	0	0	5	12				
ZNF358	140467	broad.mit.edu	37	19	7585641	7585641	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:7585641G>A	ENST00000597229.1	+	2	1683	c.1513G>A	c.(1513-1515)Gac>Aac	p.D505N	ZNF358_ENST00000394341.2_Missense_Mutation_p.D505N|MCOLN1_ENST00000264079.6_5'Flank|CTD-2207O23.11_ENST00000602083.1_RNA	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	505					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CGCTGGTCCCGACCTTGTGCC	0.652																																						uc002mgn.2		NA																	0				central_nervous_system(1)	1						c.(1513-1515)GAC>AAC		zinc finger protein 358							86.0	69.0	75.0					19																	7585641		2203	4300	6503	SO:0001583	missense	140467				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7585641G>A	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.1513G>A	19.37:g.7585641G>A	ENSP00000472305:p.Asp505Asn					MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank	p.D505N	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN			2	1683	+			505					Q9BTM7	Missense_Mutation	SNP	ENST00000597229.1	37	c.1513G>A	CCDS32890.2	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046601	0.55110	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.41400	1.0	3.88	1.68	0.24146	.	.	.	.	.	T	0.21427	0.0516	N	0.24115	0.695	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.26710	-1.0095	9	0.08381	T	0.77	.	3.952	0.09374	0.2175:0.201:0.5815:0.0	.	505	Q9NW07	ZN358_HUMAN	N	505	ENSP00000377873:D505N	ENSP00000354703:D505N	D	+	1	0	ZNF358	7491641	0.001000	0.12720	0.008000	0.14137	0.139000	0.21198	1.000000	0.29770	0.581000	0.29539	0.561000	0.74099	GAC		0.652	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1			33	97	0	0	0	0	33	97				
MUC16	94025	broad.mit.edu	37	19	9057827	9057827	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:9057827G>C	ENST00000397910.4	-	3	29822	c.29619C>G	c.(29617-29619)ttC>ttG	p.F9873L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9875	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGTCAATGAGAATGTTGGCT	0.483																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(29617-29619)TTC>TTG		mucin 16							120.0	113.0	115.0					19																	9057827		1965	4165	6130	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057827G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29619C>G	19.37:g.9057827G>C	ENSP00000381008:p.Phe9873Leu						p.F9873L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	29823	-			9875			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.29619C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	7.294	0.611660	0.14066	.	.	ENSG00000181143	ENST00000397910	T	0.02446	4.29	2.62	-3.5	0.04710	.	.	.	.	.	T	0.01189	0.0039	N	0.08118	0	.	.	.	P	0.40834	0.73	B	0.34385	0.181	T	0.41610	-0.9499	8	0.87932	D	0	.	0.411	0.00441	0.2959:0.2443:0.2794:0.1804	.	9873	B5ME49	.	L	9873	ENSP00000381008:F9873L	ENSP00000381008:F9873L	F	-	3	2	MUC16	8918827	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.962000	0.01514	-0.644000	0.05465	0.557000	0.71058	TTC		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	164	0	0	0	0	3	164				
MUC16	94025	broad.mit.edu	37	19	9062946	9062946	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:9062946G>C	ENST00000397910.4	-	3	24703	c.24500C>G	c.(24499-24501)tCa>tGa	p.S8167*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8169	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCAAAGCCTGAGATGGATGT	0.507																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(24499-24501)TCA>TGA		mucin 16							128.0	124.0	126.0					19																	9062946		2071	4221	6292	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062946G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24500C>G	19.37:g.9062946G>C	ENSP00000381008:p.Ser8167*						p.S8167*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	24704	-			8169			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.24500C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	59	39.049842	0.99985	.	.	ENSG00000181143	ENST00000397910	.	.	.	3.24	3.24	0.37175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.2423	0.43319	0.0:0.0:1.0:0.0	.	.	.	.	X	8167	.	ENSP00000381008:S8167X	S	-	2	0	MUC16	8923946	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.044000	0.12023	2.124000	0.65301	0.508000	0.49915	TCA		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		37	89	0	0	0	0	37	89				
MUC16	94025	broad.mit.edu	37	19	9065271	9065271	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:9065271G>A	ENST00000397910.4	-	3	22378	c.22175C>T	c.(22174-22176)cCa>cTa	p.P7392L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7394	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGGAAGATGGAGGGCTTGT	0.507																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(22174-22176)CCA>CTA		mucin 16							78.0	80.0	79.0					19																	9065271		2019	4171	6190	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065271G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.22175C>T	19.37:g.9065271G>A	ENSP00000381008:p.Pro7392Leu						p.P7392L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	22379	-			7394			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.22175C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	4.295	0.054016	0.08291	.	.	ENSG00000181143	ENST00000397910	T	0.21031	2.03	2.56	-4.79	0.03200	.	.	.	.	.	T	0.08403	0.0209	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.09377	0.004	T	0.31475	-0.9942	8	0.87932	D	0	.	3.7983	0.08749	0.5336:0.0:0.2864:0.18	.	7392	B5ME49	.	L	7392	ENSP00000381008:P7392L	ENSP00000381008:P7392L	P	-	2	0	MUC16	8926271	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.849000	0.01672	-1.022000	0.03346	-1.048000	0.02349	CCA		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		27	52	0	0	0	0	27	52				
MUC16	94025	broad.mit.edu	37	19	9068706	9068706	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:9068706G>C	ENST00000397910.4	-	3	18943	c.18740C>G	c.(18739-18741)tCt>tGt	p.S6247C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6249	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAAACAAGAGAGGAGGTACT	0.483																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(18739-18741)TCT>TGT		mucin 16							118.0	116.0	117.0					19																	9068706		2035	4192	6227	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9068706G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18740C>G	19.37:g.9068706G>C	ENSP00000381008:p.Ser6247Cys						p.S6247C	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	18944	-			6249			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.18740C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.396	-0.579444	0.03854	.	.	ENSG00000181143	ENST00000397910	T	0.46451	0.87	1.75	-3.51	0.04696	.	.	.	.	.	T	0.24699	0.0599	L	0.36672	1.1	.	.	.	B	0.20052	0.041	B	0.09377	0.004	T	0.23368	-1.0190	8	0.87932	D	0	.	0.2555	0.00211	0.3521:0.201:0.2455:0.2014	.	6247	B5ME49	.	C	6247	ENSP00000381008:S6247C	ENSP00000381008:S6247C	S	-	2	0	MUC16	8929706	0.003000	0.15002	0.000000	0.03702	0.018000	0.09664	0.778000	0.26732	-1.452000	0.01931	0.174000	0.16983	TCT		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		34	80	0	0	0	0	34	80				
ZNF560	147741	broad.mit.edu	37	19	9578057	9578057	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:9578057C>T	ENST00000301480.4	-	10	1779	c.1566G>A	c.(1564-1566)ggG>ggA	p.G522G		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	522					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G522G(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TAAATGGTTTCCCACATTTGT	0.398																																						uc002mlp.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						c.(1564-1566)GGG>GGA		zinc finger protein 560							108.0	109.0	109.0					19																	9578057		2203	4300	6503	SO:0001819	synonymous_variant	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9578057C>T	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1566G>A	19.37:g.9578057C>T						ZNF560_uc010dwr.1_Silent_p.G416G	p.G522G	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN			10	1776	-			522			C2H2-type 7.		Q495S9|Q495T1	Silent	SNP	ENST00000301480.4	37	c.1566G>A	CCDS12214.1																																																																																				0.398	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		47	156	0	0	0	0	47	156				
PPAN	56342	broad.mit.edu	37	19	10221527	10221527	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:10221527G>A	ENST00000253107.7	+	11	1292	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K	P2RY11_ENST00000321826.4_5'Flank|PPAN_ENST00000393793.1_Missense_Mutation_p.E343K|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.E396K|SNORD105B_ENST00000458770.1_RNA|PPAN_ENST00000556468.1_Missense_Mutation_p.E396K|PPAN-P2RY11_ENST00000428358.1_Missense_Mutation_p.E396K	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	396					RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GGCGGTGGGCGAGGCGCCCAG	0.612																																						uc002mna.2		NA																	0				ovary(2)	2						c.(1186-1188)GAG>AAG		PPAN-P2RY11 protein							91.0	103.0	99.0					19																	10221527		2203	4300	6503	SO:0001583	missense	692312				RNA splicing	nucleolus	protein binding	g.chr19:10221527G>A	BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"""peter pan (Drosophila) homolog"""			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.1186G>A	19.37:g.10221527G>A	ENSP00000253107:p.Glu396Lys					PPAN-P2RY11_uc010xla.1_Missense_Mutation_p.E396K|P2RY11_uc002mnc.2_5'Flank|PPAN_uc002mmz.1_Missense_Mutation_p.E396K|PPAN_uc002mnb.1_Missense_Mutation_p.E343K	p.E396K	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		11	1186	+			396					C9J3F9|Q9BW97|Q9H170	Missense_Mutation	SNP	ENST00000253107.7	37	c.1186G>A	CCDS12225.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907173	0.52333	.	.	ENSG00000243207;ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810	ENST00000428358;ENST00000393796;ENST00000253107;ENST00000556468;ENST00000342696;ENST00000393793	T;T;T;T;T	0.63913	1.42;-0.07;1.45;-0.07;1.47	4.71	3.67	0.42095	.	.	.	.	.	T	0.64549	0.2608	M	0.66439	2.03	0.38433	D	0.946489	D;D;D	0.62365	0.985;0.983;0.991	B;B;P	0.47786	0.306;0.403;0.557	T	0.69694	-0.5076	9	0.52906	T	0.07	-30.6298	11.8288	0.52282	0.0874:0.0:0.9126:0.0	.	396;396;396	C9J3F9;C9JW41;Q9NQ55	.;.;SSF1_HUMAN	K	396;396;396;396;396;343	ENSP00000411918:E396K;ENSP00000377385:E396K;ENSP00000253107:E396K;ENSP00000450710:E396K;ENSP00000377382:E343K	ENSP00000253107:E396K	E	+	1	0	PPAN;PPAN-P2RY11	10082527	0.965000	0.33210	0.996000	0.52242	0.046000	0.14306	1.588000	0.36633	0.987000	0.38709	0.561000	0.74099	GAG		0.612	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316658.1	NM_020230		57	210	0	0	0	0	57	210				
KEAP1	9817	broad.mit.edu	37	19	10610625	10610625	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:10610625C>G	ENST00000171111.5	-	2	632	c.85G>C	c.(85-87)Gac>Cac	p.D29H	KEAP1_ENST00000393623.2_Missense_Mutation_p.D29H|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	29					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	ATCACCGCGTCCCCTGCCCCC	0.642																																						uc002moq.1		NA																	0				lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(85-87)GAC>CAC		kelch-like ECH-associated protein 1							71.0	59.0	63.0					19																	10610625		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10610625C>G	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.85G>C	19.37:g.10610625C>G	ENSP00000171111:p.Asp29His					KEAP1_uc002mor.1_Missense_Mutation_p.D29H	p.D29H	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		2	241	-			29					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.85G>C	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.491185	0.26774	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.71698	-0.59;-0.59	4.9	1.36	0.22044	.	0.423416	0.22666	N	0.057134	T	0.47078	0.1426	N	0.14661	0.345	0.32376	N	0.555136	B	0.17268	0.021	B	0.13407	0.009	T	0.49457	-0.8938	10	0.54805	T	0.06	.	4.5523	0.12117	0.1586:0.5991:0.1538:0.0885	.	29	Q14145	KEAP1_HUMAN	H	29	ENSP00000171111:D29H;ENSP00000377245:D29H	ENSP00000171111:D29H	D	-	1	0	KEAP1	10471625	0.994000	0.37717	0.997000	0.53966	0.466000	0.32739	1.460000	0.35244	1.058000	0.40530	0.462000	0.41574	GAC		0.642	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		38	124	0	0	0	0	38	124				
CDKN2D	1032	broad.mit.edu	37	19	10675660	10675660	+	IGR	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:10675660C>T	ENST00000393599.2	-	0	1422				KRI1_ENST00000361821.5_Silent_p.L75L|KRI1_ENST00000537964.1_5'UTR|KRI1_ENST00000312962.6_Silent_p.L79L	NM_001800.3|NM_079421.2	NP_001791.1|NP_524145.1	P55273	CDN2D_HUMAN	cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)						autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to retinoic acid (GO:0032526)|response to UV (GO:0009411)|response to vitamin D (GO:0033280)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)			endometrium(3)|lung(2)|ovary(1)	6			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CCTTCTTCTTCAACAAGGAGA	0.488											OREG0025239	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002moy.1		NA																	0				ovary(1)	1						c.(235-237)TTG>TTA		KRI1 homolog							106.0	111.0	109.0					19																	10675660		2203	4300	6503	SO:0001628	intergenic_variant	65095							g.chr19:10675660C>T		CCDS12244.1	19p13	2013-01-10				ENSG00000129355		"""Ankyrin repeat domain containing"""	1790	protein-coding gene	gene with protein product		600927				8575754	Standard	NM_079421		Approved	INK4D, p19	uc002mpa.3	P55273			19.37:g.10675660C>T			OREG0025239	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	666	KRI1_uc002mox.1_Silent_p.L75L	p.L79L	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		3	246	-			79					Q13102|Q6FGE9	Silent	SNP	ENST00000393599.2	37	c.237G>A	CCDS12244.1																																																																																				0.488	CDKN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452030.1	NM_079421		50	139	0	0	0	0	50	139				
AP1M2	10053	broad.mit.edu	37	19	10689577	10689577	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:10689577G>A	ENST00000250244.6	-	8	961	c.879C>T	c.(877-879)atC>atT	p.I293I	AP1M2_ENST00000590923.1_Silent_p.I295I	NM_005498.4	NP_005489.2	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	293	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein targeting (GO:0006605)|regulation of defense response to virus by virus (GO:0050690)|vesicle targeting (GO:0006903)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CCTTGACCATGATCTCCACGC	0.547																																						uc002mpc.2		NA																	0				ovary(2)	2						c.(877-879)ATC>ATT		adaptor-related protein complex 1, mu 2 subunit							58.0	57.0	57.0					19																	10689577		1924	4148	6072	SO:0001819	synonymous_variant	10053				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	g.chr19:10689577G>A	AF020797	CCDS45964.1	19p13.2	2008-10-07				ENSG00000129354			558	protein-coding gene	gene with protein product		607309				10338135	Standard	NM_005498		Approved	HSMU1B, mu2, AP1-mu2	uc002mpc.3	Q9Y6Q5		ENST00000250244.6:c.879C>T	19.37:g.10689577G>A						AP1M2_uc002mpd.2_Silent_p.I295I	p.I293I	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)		8	963	-			293			MHD.		B2RDV5|Q9BSI8	Silent	SNP	ENST00000250244.6	37	c.879C>T	CCDS45964.1																																																																																				0.547	AP1M2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452034.1			6	15	0	0	0	0	6	15				
RGL3	57139	broad.mit.edu	37	19	11515837	11515837	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:11515837C>G	ENST00000380456.3	-	9	1234	c.1171G>C	c.(1171-1173)Gag>Cag	p.E391Q	RGL3_ENST00000393423.3_Missense_Mutation_p.E391Q	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	391	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						AAAAGAATCTCTCTGCTGCTG	0.547																																					GBM(174;751 2067 17998 27979 33959)	uc002mrp.2		NA																	0				ovary(1)	1						c.(1171-1173)GAG>CAG		ral guanine nucleotide dissociation							132.0	131.0	132.0					19																	11515837		2203	4300	6503	SO:0001583	missense	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11515837C>G	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.1171G>C	19.37:g.11515837C>G	ENSP00000369823:p.Glu391Gln					RGL3_uc002mrn.2_Missense_Mutation_p.E155Q|RGL3_uc002mrm.2_Missense_Mutation_p.E155Q|RGL3_uc002mro.2_Missense_Mutation_p.E391Q	p.E391Q	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN			9	1235	-			391			Ras-GEF.		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	ENST00000380456.3	37	c.1171G>C	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689511	0.68271	.	.	ENSG00000205517	ENST00000342684;ENST00000393423;ENST00000380456	T;T	0.32753	1.44;1.44	5.63	4.59	0.56863	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.150027	0.64402	D	0.000019	T	0.49321	0.1550	L	0.61036	1.89	0.44789	D	0.997792	D;D;D;D	0.71674	0.986;0.998;0.986;0.987	P;P;P;P	0.60682	0.877;0.856;0.877;0.878	T	0.54009	-0.8357	10	0.87932	D	0	.	14.795	0.69870	0.1459:0.8541:0.0:0.0	.	391;391;391;188	Q3MIN7;B5ME84;B7ZL22;Q8TEP0	RGL3_HUMAN;.;.;.	Q	188;391;391	ENSP00000377075:E391Q;ENSP00000369823:E391Q	ENSP00000344665:E188Q	E	-	1	0	RGL3	11376837	1.000000	0.71417	0.552000	0.28243	0.509000	0.34042	5.431000	0.66507	1.361000	0.45981	-0.181000	0.13052	GAG		0.547	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		9	261	0	0	0	0	9	261				
ZNF490	57474	broad.mit.edu	37	19	12721450	12721450	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:12721450G>C	ENST00000311437.6	-	1	167	c.45C>G	c.(43-45)ctC>ctG	p.L15L	ZNF791_ENST00000343325.4_5'Flank|ZNF791_ENST00000446165.1_5'Flank|ZNF791_ENST00000458122.3_5'Flank|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_5'Flank	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	15					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CTTGCTCCTCGAGGGGTCGCT	0.567																																						uc002mtz.2		NA																	0					0						c.(43-45)CTC>CTG		zinc finger protein 490							155.0	121.0	133.0					19																	12721450		2203	4300	6503	SO:0001819	synonymous_variant	57474				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12721450G>C	AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033		"""Zinc fingers, C2H2-type"", ""-"""	23705	protein-coding gene	gene with protein product							Standard	NM_020714		Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.45C>G	19.37:g.12721450G>C						ZNF791_uc002mua.2_5'Flank|ZNF791_uc010xml.1_5'Flank|ZNF791_uc010dyu.1_5'Flank|ZNF791_uc010xmm.1_5'Flank	p.L15L	NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN			1	174	-			15						Silent	SNP	ENST00000311437.6	37	c.45C>G	CCDS12272.1																																																																																				0.567	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1	NM_020714		39	104	0	0	0	0	39	104				
ZNF791	163049	broad.mit.edu	37	19	12734532	12734532	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:12734532G>A	ENST00000343325.4	+	2	184	c.22G>A	c.(22-24)Gat>Aat	p.D8N	ZNF791_ENST00000446165.1_Missense_Mutation_p.D8N|ZNF791_ENST00000458122.3_De_novo_Start_OutOfFrame|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	8	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(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GGCTTTTGAGGATGTGTCTGT	0.453																																						uc002mua.2		NA																	0				ovary(2)	2						c.(22-24)GAT>AAT		zinc finger protein 791							130.0	129.0	130.0					19																	12734532		2203	4300	6503	SO:0001583	missense	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12734532G>A	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.22G>A	19.37:g.12734532G>A	ENSP00000342974:p.Asp8Asn					ZNF791_uc010xml.1_5'UTR|ZNF791_uc010dyu.1_5'UTR|ZNF791_uc010xmm.1_Intron	p.D8N	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN			2	184	+			8			KRAB.		B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	c.22G>A	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371387	0.61624	.	.	ENSG00000173875	ENST00000446165;ENST00000343325;ENST00000393303	T;T	0.11169	2.8;2.8	1.06	1.06	0.20224	Krueppel-associated box (4);	.	.	.	.	T	0.44329	0.1288	H	0.98276	4.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54009	-0.8357	9	0.66056	D	0.02	.	7.9924	0.30248	0.0:0.0:1.0:0.0	.	8	Q3KP31	ZN791_HUMAN	N	8	ENSP00000412981:D8N;ENSP00000342974:D8N	ENSP00000342974:D8N	D	+	1	0	ZNF791	12595532	0.998000	0.40836	0.987000	0.45799	0.238000	0.25445	3.851000	0.55926	0.877000	0.35895	0.313000	0.20887	GAT		0.453	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		7	248	0	0	0	0	7	248				
RAD23A	5886	broad.mit.edu	37	19	13060211	13060211	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:13060211C>G	ENST00000586534.1	+	7	863	c.802C>G	c.(802-804)Cag>Gag	p.Q268E	RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000541222.1_Missense_Mutation_p.Q103E|RAD23A_ENST00000592268.1_Missense_Mutation_p.Q268E|RAD23A_ENST00000316856.3_Missense_Mutation_p.Q267E			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	268					nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						GGAGAACCCTCAGCTTTTACA	0.612								Nucleotide excision repair (NER)																														uc002mvw.1		NA																	0				central_nervous_system(1)	1						c.(802-804)CAG>GAG	NER	UV excision repair protein RAD23 homolog A							57.0	61.0	60.0					19																	13060211		2203	4300	6503	SO:0001583	missense	5886				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr19:13060211C>G		CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"""RAD23, yeast homolog, A"""	600061	"""RAD23 (S. cerevisiae) homolog A"""			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.802C>G	19.37:g.13060211C>G	ENSP00000467024:p.Gln268Glu					RAD23A_uc002mvx.1_Missense_Mutation_p.Q267E|RAD23A_uc002mvz.1_Missense_Mutation_p.Q267E|RAD23A_uc002mwa.1_Missense_Mutation_p.Q268E|RAD23A_uc002mvy.1_Missense_Mutation_p.Q102E|RAD23A_uc010xmw.1_Missense_Mutation_p.Q103E	p.Q268E	NM_005053	NP_005044	P54725	RD23A_HUMAN			7	911	+			268					K7ESE3|Q59EU8|Q5M7Z1	Missense_Mutation	SNP	ENST00000586534.1	37	c.802C>G	CCDS12289.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465874	0.26335	.	.	ENSG00000179262	ENST00000316856;ENST00000541222	T	0.23950	1.88	5.03	3.96	0.45880	XPC-binding domain (3);Heat shock chaperonin-binding (1);	0.324183	0.29806	N	0.011149	T	0.17619	0.0423	L	0.31804	0.96	0.32312	N	0.563533	B;B;B	0.14805	0.011;0.001;0.001	B;B;B	0.24006	0.05;0.012;0.011	T	0.14200	-1.0481	10	0.27785	T	0.31	-27.2107	7.8642	0.29528	0.0:0.7474:0.1651:0.0875	.	267;284;268	A8K1J3;Q59EU8;P54725	.;.;RD23A_HUMAN	E	268;103	ENSP00000438741:Q103E	ENSP00000321365:Q268E	Q	+	1	0	RAD23A	12921211	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	3.486000	0.53215	1.064000	0.40671	0.655000	0.94253	CAG		0.612	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452752.1	NM_005053		35	128	0	0	0	0	35	128				
WIZ	58525	broad.mit.edu	37	19	15547894	15547894	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:15547894G>A	ENST00000389282.4	-	4	2532	c.2319C>T	c.(2317-2319)ttC>ttT	p.F773F	WIZ_ENST00000263381.7_Silent_p.F84F			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	773					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CAGCCCCGCAGAAGTCACAGC	0.647																																						uc002nbb.3		NA																	0					0						c.(250-252)TTC>TTT		widely-interspaced zinc finger motifs							30.0	37.0	34.0					19																	15547894		2149	4241	6390	SO:0001819	synonymous_variant	58525					nucleus	zinc ion binding	g.chr19:15547894G>A	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.2319C>T	19.37:g.15547894G>A							p.F84F	NM_021241	NP_067064	O95785	WIZ_HUMAN			3	466	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Silent	SNP	ENST00000389282.4	37	c.252C>T																																																																																					0.647	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		6	21	0	0	0	0	6	21				
KXD1	79036	broad.mit.edu	37	19	18679247	18679247	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:18679247G>A	ENST00000602094.1	+	5	1797	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	KXD1_ENST00000222307.4_Missense_Mutation_p.E113K|AC005253.4_ENST00000593791.1_RNA|KXD1_ENST00000540691.1_Missense_Mutation_p.E113K|KXD1_ENST00000595073.1_Missense_Mutation_p.E113K|KXD1_ENST00000539106.1_Missense_Mutation_p.E113K|KXD1_ENST00000599319.1_Missense_Mutation_p.E113K|KXD1_ENST00000601630.1_Missense_Mutation_p.E132K			Q9BQD3	KXDL1_HUMAN	KxDL motif containing 1	113					vesicle-mediated transport (GO:0016192)	BLOC-1 complex (GO:0031083)											GGAAGAGGATGAAGACCCCAT	0.577																																						uc002njo.2		NA																	0					0						c.(337-339)GAA>AAA		hypothetical protein LOC79036							301.0	286.0	291.0					19																	18679247		2203	4300	6503	SO:0001583	missense	79036						protein binding	g.chr19:18679247G>A	AK098346	CCDS12381.1	19p13.11	2011-11-24	2011-11-24	2011-11-24	ENSG00000105700	ENSG00000105700			28420	protein-coding gene	gene with protein product		615178	"""chromosome 19 open reading frame 50"""	C19orf50		21159114	Standard	NM_001171948		Approved	FLJ25480, MGC2749, KXDL	uc002njo.3	Q9BQD3		ENST00000602094.1:c.337G>A	19.37:g.18679247G>A	ENSP00000472836:p.Glu113Lys					C19orf50_uc002njp.2_RNA|C19orf50_uc002njq.2_Missense_Mutation_p.E113K	p.E113K	NM_024069	NP_076974	Q9BQD3	CS050_HUMAN			5	479	+			113					O76098	Missense_Mutation	SNP	ENST00000602094.1	37	c.337G>A	CCDS12381.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904650	0.72868	.	.	ENSG00000105700	ENST00000540691;ENST00000539106;ENST00000222307	T;T;T	0.47869	0.83;0.83;0.83	5.13	5.13	0.70059	.	0.146823	0.64402	D	0.000013	T	0.27765	0.0683	N	0.08118	0	0.53005	D	0.999962	P	0.38922	0.651	B	0.30401	0.115	T	0.22487	-1.0215	10	0.48119	T	0.1	-13.7638	17.1349	0.86736	0.0:0.0:1.0:0.0	.	113	Q9BQD3	CS050_HUMAN	K	113	ENSP00000443549:E113K;ENSP00000438903:E113K;ENSP00000222307:E113K	ENSP00000222307:E113K	E	+	1	0	C19orf50	18540247	1.000000	0.71417	0.986000	0.45419	0.702000	0.40608	7.099000	0.76981	2.383000	0.81215	0.555000	0.69702	GAA		0.577	KXD1-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465107.1	NM_024069		106	424	0	0	0	0	106	424				
ZNF99	7652	broad.mit.edu	37	19	22941540	22941540	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:22941540G>C	ENST00000596209.1	-	4	1261	c.1171C>G	c.(1171-1173)Cat>Gat	p.H391D	ZNF99_ENST00000397104.3_Missense_Mutation_p.H300D	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	391					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTCCAGTATGAATTATCTCA	0.353																																						uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(898-900)CAT>GAT		zinc finger protein 99							76.0	81.0	79.0					19																	22941540		2017	4207	6224	SO:0001583	missense	7652							g.chr19:22941540G>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1171C>G	19.37:g.22941540G>C	ENSP00000472969:p.His391Asp						p.H300D	NM_001080409	NP_001073878					5	898	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.898C>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	13.56	2.274471	0.40194	.	.	ENSG00000213973	ENST00000397104	T	0.67698	-0.28	1.28	1.28	0.21552	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84692	0.5528	H	0.97186	3.955	0.39370	D	0.966062	D	0.76494	0.999	D	0.79784	0.993	D	0.84800	0.0784	9	0.87932	D	0	.	7.5823	0.27972	0.0:0.0:1.0:0.0	.	300	A8MXY4	ZNF99_HUMAN	D	300	ENSP00000380293:H300D	ENSP00000380293:H300D	H	-	1	0	ZNF99	22733380	0.996000	0.38824	0.012000	0.15200	0.041000	0.13682	3.625000	0.54238	0.675000	0.31264	0.395000	0.25975	CAT		0.353	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		4	149	0	0	0	0	4	149				
C19orf12	83636	broad.mit.edu	37	19	30193787	30193787	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:30193787C>G	ENST00000392278.2	-	3	417	c.291G>C	c.(289-291)caG>caC	p.Q97H	C19orf12_ENST00000392276.1_Missense_Mutation_p.Q22H|C19orf12_ENST00000592153.1_Missense_Mutation_p.Q86H|C19orf12_ENST00000323670.9_Missense_Mutation_p.Q86H|C19orf12_ENST00000392275.1_5'UTR	NM_001031726.3	NP_001026896.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	97					cell death (GO:0008219)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			TAAAGAGCCTCTGTTGCTCGG	0.632																																						uc002nsk.2		NA																	0					0						c.(256-258)CAG>CAC		hypothetical protein LOC83636 isoform 2							78.0	77.0	78.0					19																	30193787		2203	4300	6503	SO:0001583	missense	83636					integral to membrane		g.chr19:30193787C>G	AK057185	CCDS12418.2, CCDS42542.1, CCDS59373.1, CCDS74325.1	19q13.11	2013-07-24			ENSG00000131943	ENSG00000131943			25443	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 4"""	614297	"""spastic paraplegia 43 (autosomal recessive)"""	SPG43		21981780, 23857908	Standard	NM_031448		Approved	MGC10922, DKFZP762D096, NBIA4	uc002nsj.3	Q9NSK7	OTTHUMG00000149838	ENST00000392278.2:c.291G>C	19.37:g.30193787C>G	ENSP00000376103:p.Gln97His					C19orf12_uc002nsj.2_Missense_Mutation_p.Q97H|C19orf12_uc002nsl.2_3'UTR|C19orf12_uc002nsm.2_RNA	p.Q86H	NM_031448	NP_113636	Q9NSK7	CS012_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)		3	689	-	Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		86					B3KQ16|Q0D2Q0|Q6P4C5|Q9BSL7	Missense_Mutation	SNP	ENST00000392278.2	37	c.258G>C	CCDS42542.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511684	0.44660	.	.	ENSG00000131943	ENST00000323670;ENST00000392276;ENST00000392275;ENST00000392278;ENST00000342680	T;T;T	0.81163	-1.46;-1.46;-1.46	5.2	4.16	0.48862	.	0.396408	0.28877	N	0.013847	D	0.84579	0.5503	M	0.71581	2.175	0.44454	D	0.997389	P;P	0.51057	0.937;0.941	P;P	0.55999	0.789;0.739	D	0.84878	0.0829	10	0.72032	D	0.01	-25.2561	8.6913	0.34269	0.0:0.7609:0.0:0.2391	.	86;97	Q9NSK7;Q9NSK7-4	CS012_HUMAN;.	H	86;22;22;97;86	ENSP00000313332:Q86H;ENSP00000376102:Q22H;ENSP00000376103:Q97H	ENSP00000313332:Q86H	Q	-	3	2	C19orf12	34885627	1.000000	0.71417	0.998000	0.56505	0.061000	0.15899	1.468000	0.35332	1.196000	0.43129	0.591000	0.81541	CAG		0.632	C19orf12-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313509.2	NM_031448		6	144	0	0	0	0	6	144				
ZNF536	9745	broad.mit.edu	37	19	30936498	30936498	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:30936498G>A	ENST00000355537.3	+	2	2176	c.2029G>A	c.(2029-2031)Gac>Aac	p.D677N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	677					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTCGGGCAGTGACCAGGAGTC	0.706																																						uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(2029-2031)GAC>AAC		zinc finger protein 536							30.0	34.0	33.0					19																	30936498		2202	4296	6498	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936498G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2029G>A	19.37:g.30936498G>A	ENSP00000347730:p.Asp677Asn					ZNF536_uc010edd.1_Missense_Mutation_p.D677N	p.D677N	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	2167	+	Esophageal squamous(110;0.0834)		677					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2029G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117956	0.77323	.	.	ENSG00000198597	ENST00000355537	T	0.10005	2.92	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.21631	0.0521	N	0.24115	0.695	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.05699	-1.0869	10	0.27785	T	0.31	-48.2209	19.2151	0.93774	0.0:0.0:1.0:0.0	.	677;677	A7E228;O15090	.;ZN536_HUMAN	N	677	ENSP00000347730:D677N	ENSP00000347730:D677N	D	+	1	0	ZNF536	35628338	1.000000	0.71417	0.961000	0.40146	0.982000	0.71751	9.378000	0.97191	2.509000	0.84616	0.655000	0.94253	GAC		0.706	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		15	34	0	0	0	0	15	34				
C19orf40	91442	broad.mit.edu	37	19	33467558	33467558	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:33467558G>T	ENST00000588258.1	+	5	728	c.618G>T	c.(616-618)caG>caT	p.Q206H	C19orf40_ENST00000590281.1_Missense_Mutation_p.Q206H|C19orf40_ENST00000589646.1_Missense_Mutation_p.Q111H|C19orf40_ENST00000590179.1_Missense_Mutation_p.Q111H	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	206	RuvA domain 2-like.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TGGCACAGCAGATCCATGCCT	0.542								Direct reversal of damage			OREG0025408	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002nud.3		NA																	0					0						c.(616-618)CAG>CAT	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia-associated protein, 24 kDa							102.0	91.0	95.0					19																	33467558		2203	4300	6503	SO:0001583	missense	91442				DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	g.chr19:33467558G>T	AK128668	CCDS12426.1, CCDS74327.1	19q13.11	2011-11-24			ENSG00000131944	ENSG00000131944			28467	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 24kDa"""	610884				17289582	Standard	XM_005259393		Approved	FLJ46828, MGC32020, FAAP24	uc002nud.4	Q9BTP7		ENST00000588258.1:c.618G>T	19.37:g.33467558G>T	ENSP00000466121:p.Gln206His		OREG0025408	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	840		p.Q206H	NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN			5	736	+	Esophageal squamous(110;0.137)		206			RuvA domain 2-like.		B3KY46|Q8WUJ7|Q96FX6	Missense_Mutation	SNP	ENST00000588258.1	37	c.618G>T	CCDS12426.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.397797	0.25205	.	.	ENSG00000131944	ENST00000254262	.	.	.	5.35	-10.7	0.00240	RuvA domain 2-like (1);	0.633767	0.17790	N	0.161927	T	0.17280	0.0415	N	0.13299	0.325	0.19300	N	0.999979	B	0.11235	0.004	B	0.17433	0.018	T	0.13229	-1.0517	9	0.22109	T	0.4	-0.9443	11.4874	0.50361	0.5995:0.1733:0.2272:0.0	.	206	Q9BTP7	FAP24_HUMAN	H	206	.	ENSP00000254262:Q206H	Q	+	3	2	C19orf40	38159398	0.011000	0.17503	0.010000	0.14722	0.166000	0.22503	-0.928000	0.03980	-1.678000	0.01454	-0.244000	0.11960	CAG		0.542	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450823.2	NM_152266		38	135	1	0	6.12e-33	6.6e-33	38	135				
LRP3	4037	broad.mit.edu	37	19	33696521	33696521	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:33696521G>A	ENST00000253193.7	+	5	1047	c.845G>A	c.(844-846)tGc>tAc	p.C282Y	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	282	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GACCTTCACTGCACGTGGCTG	0.692																																						uc010edh.2		NA																	0				pancreas(2)|ovary(1)	3						c.(844-846)TGC>TAC		low density lipoprotein receptor-related protein							17.0	23.0	21.0					19																	33696521		2185	4277	6462	SO:0001583	missense	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33696521G>A	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.845G>A	19.37:g.33696521G>A	ENSP00000253193:p.Cys282Tyr					LRP3_uc010xrp.1_Missense_Mutation_p.C156Y|LRP3_uc002nuk.3_Missense_Mutation_p.C156Y	p.C282Y	NM_002333	NP_002324	O75074	LRP3_HUMAN			5	938	+	Esophageal squamous(110;0.137)		282			Extracellular (Potential).|CUB 2.		B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	c.845G>A	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393530	0.62066	.	.	ENSG00000130881	ENST00000431491;ENST00000253193	T	0.66280	-0.2	4.55	4.55	0.56014	CUB (5);	0.000000	0.85682	D	0.000000	T	0.81187	0.4770	M	0.86268	2.805	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.977;0.999	D	0.85224	0.1028	10	0.87932	D	0	-26.7358	16.3046	0.82843	0.0:0.0:1.0:0.0	.	156;282;200	C9J8W0;O75074;B7ZAJ9	.;LRP3_HUMAN;.	Y	156;282	ENSP00000253193:C282Y	ENSP00000253193:C282Y	C	+	2	0	LRP3	38388361	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	9.788000	0.99064	2.100000	0.63781	0.462000	0.41574	TGC		0.692	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			9	26	0	0	0	0	9	26				
ZNF566	84924	broad.mit.edu	37	19	36940594	36940594	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:36940594C>G	ENST00000434377.2	-	5	623	c.542G>C	c.(541-543)aGa>aCa	p.R181T	ZNF566_ENST00000454319.1_Missense_Mutation_p.R182T|ZNF566_ENST00000493391.1_Missense_Mutation_p.R77T|ZNF566_ENST00000392170.2_Missense_Mutation_p.R182T|ZNF566_ENST00000424129.2_Missense_Mutation_p.R181T	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TGAGCCATGTCTAAAGGTTTT	0.378																																						uc002oea.3		NA																	0					0						c.(541-543)AGA>ACA		zinc finger protein 566 isoform 1							90.0	94.0	93.0					19																	36940594		2203	4300	6503	SO:0001583	missense	84924				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36940594C>G	AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.542G>C	19.37:g.36940594C>G	ENSP00000415520:p.Arg181Thr					ZNF566_uc010xte.1_Missense_Mutation_p.R181T|ZNF566_uc010xtf.1_Missense_Mutation_p.R182T|ZNF566_uc002oeb.3_Missense_Mutation_p.R181T|ZNF566_uc002oec.3_Missense_Mutation_p.R77T|ZNF566_uc010xtg.1_Missense_Mutation_p.R77T	p.R181T	NM_032838	NP_116227	Q969W8	ZN566_HUMAN			5	624	-	Esophageal squamous(110;0.162)		181			C2H2-type 1; degenerate.		B7ZL95|Q2M3J1	Missense_Mutation	SNP	ENST00000434377.2	37	c.542G>C	CCDS12494.1	.	.	.	.	.	.	.	.	.	.	C	0.514	-0.865238	0.02590	.	.	ENSG00000186017	ENST00000454319;ENST00000434377;ENST00000392170;ENST00000424129;ENST00000452939	T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;2.49	4.25	0.548	0.17208	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.138538	0.33272	N	0.005084	T	0.19446	0.0467	L	0.45744	1.44	0.09310	N	1	B;B	0.19200	0.034;0.012	B;B	0.20184	0.02;0.028	T	0.11743	-1.0575	10	0.20519	T	0.43	.	3.1517	0.06490	0.2923:0.4678:0.1445:0.0954	.	182;181	B7ZL95;Q969W8	.;ZN566_HUMAN	T	182;181;182;181;181	ENSP00000394207:R182T;ENSP00000415520:R181T;ENSP00000376010:R182T;ENSP00000401259:R181T;ENSP00000411526:R181T	ENSP00000376010:R182T	R	-	2	0	ZNF566	41632434	0.000000	0.05858	0.216000	0.23742	0.746000	0.42486	-0.716000	0.04991	0.508000	0.28173	0.555000	0.69702	AGA		0.378	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000341054.1	NM_032838		51	137	0	0	0	0	51	137				
ZNF829	374899	broad.mit.edu	37	19	37383092	37383092	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:37383092G>A	ENST00000391711.3	-	6	965	c.601C>T	c.(601-603)Cga>Tga	p.R201*	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000520965.1_Nonsense_Mutation_p.R282*	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	201					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)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCTGATGTCGAGTAACGAGT	0.373																																						uc002ofa.1		NA																	0					0						c.(601-603)CGA>TGA		zinc finger protein 829							68.0	69.0	69.0					19																	37383092		2176	4289	6465	SO:0001587	stop_gained	374899				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37383092G>A	BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.601C>T	19.37:g.37383092G>A	ENSP00000429266:p.Arg201*					ZNF345_uc002oez.2_Intron	p.R201*	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	963	-	Esophageal squamous(110;0.183)		201			C2H2-type 2; degenerate.		Q3KNS7|Q6ZNN0|Q7Z657	Nonsense_Mutation	SNP	ENST00000391711.3	37	c.601C>T	CCDS42557.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384812	0.61956	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	.	.	.	3.41	2.35	0.29111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	10.2227	0.43207	0.0:0.0:0.6463:0.3537	.	.	.	.	X	201	.	ENSP00000429266:R201X	R	-	1	2	ZNF829	42074932	0.000000	0.05858	0.891000	0.34965	0.237000	0.25408	-1.333000	0.02667	0.988000	0.38734	-0.175000	0.13238	CGA		0.373	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232		23	101	0	0	0	0	23	101				
ZNF585A	199704	broad.mit.edu	37	19	37643675	37643675	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:37643675G>T	ENST00000356958.4	-	5	1384	c.1126C>A	c.(1126-1128)Cac>Aac	p.H376N	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.H321N|ZNF585A_ENST00000392157.2_Missense_Mutation_p.H321N|ZNF585A_ENST00000355533.2_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCCAGTGTGAATTCTCTGA	0.408																																						uc002ofo.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1126-1128)CAC>AAC		zinc finger protein 585A							89.0	85.0	86.0					19																	37643675		2203	4299	6502	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37643675G>T	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1126C>A	19.37:g.37643675G>T	ENSP00000349440:p.His376Asn					ZNF585A_uc002ofm.1_Missense_Mutation_p.H321N|ZNF585A_uc002ofn.1_Missense_Mutation_p.H321N	p.H376N	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1357	-			376			C2H2-type 8.		Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.1126C>A		.	.	.	.	.	.	.	.	.	.	G	17.46	3.395450	0.62066	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157	T;T;T	0.67345	-0.26;-0.26;-0.26	2.83	2.83	0.33086	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39274	N	0.001416	D	0.83289	0.5222	M	0.91872	3.25	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	D	0.86441	0.1767	10	0.87932	D	0	.	11.4138	0.49941	0.0:0.0:1.0:0.0	.	376	Q6P3V2	Z585A_HUMAN	N	376;321;321	ENSP00000349440:H376N;ENSP00000292841:H321N;ENSP00000375998:H321N	ENSP00000292841:H321N	H	-	1	0	ZNF585A	42335515	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	8.791000	0.91849	1.577000	0.49804	0.561000	0.74099	CAC		0.408	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		64	134	1	0	9.08e-34	9.8e-34	64	134				
ZNF607	84775	broad.mit.edu	37	19	38189234	38189234	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:38189234G>T	ENST00000355202.4	-	5	2393	c.1798C>A	c.(1798-1800)Cat>Aat	p.H600N	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.H599N	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	600					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TGTGAAGCATGACTAAAAGTT	0.398																																						uc002ohc.1		NA																	0					0						c.(1798-1800)CAT>AAT		zinc finger protein 607							62.0	58.0	60.0					19																	38189234		2203	4300	6503	SO:0001583	missense	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38189234G>T	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1798C>A	19.37:g.38189234G>T	ENSP00000347338:p.His600Asn					ZNF607_uc002ohb.1_Missense_Mutation_p.H599N	p.H600N	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	2394	-			600			C2H2-type 17.		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	c.1798C>A	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681797	0.29872	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.16196	2.36;2.36	1.96	0.767	0.18482	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07638	0.0192	N	0.11201	0.11	0.09310	N	1	B;B	0.16603	0.006;0.018	B;B	0.14578	0.005;0.011	T	0.37865	-0.9687	9	0.28530	T	0.3	.	4.4402	0.11570	0.0:0.2133:0.356:0.4308	.	600;599	Q96SK3;F5H141	ZN607_HUMAN;.	N	600;599	ENSP00000347338:H600N;ENSP00000438015:H599N	ENSP00000347338:H600N	H	-	1	0	ZNF607	42881074	0.000000	0.05858	0.002000	0.10522	0.883000	0.51084	-1.466000	0.02355	0.110000	0.17919	0.462000	0.41574	CAT		0.398	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		23	78	1	0	5.45e-15	5.78e-15	23	78				
EID2B	126272	broad.mit.edu	37	19	40023100	40023100	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:40023100C>G	ENST00000326282.4	-	1	394	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	CTB-60E11.9_ENST00000594676.1_RNA|EID2B_ENST00000601837.1_Intron	NM_152361.1	NP_689574.1			EP300 interacting inhibitor of differentiation 2B											endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGGCGTTCCTCGAAATCCCGT	0.557																																						uc002olz.1		NA																	0					0						c.(343-345)GAG>CAG		EP300 interacting inhibitor of differentiation							55.0	56.0	56.0					19																	40023100		2203	4300	6503	SO:0001583	missense	126272				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:40023100C>G	AK096263	CCDS12539.1	19q13.2	2008-02-05				ENSG00000176401			26796	protein-coding gene	gene with protein product						15970276	Standard	NM_152361		Approved	EID-3, FLJ38944	uc002olz.1	Q96D98		ENST00000326282.4:c.343G>C	19.37:g.40023100C>G	ENSP00000317564:p.Glu115Gln						p.E115Q	NM_152361	NP_689574	Q96D98	EID2B_HUMAN	Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	395	-	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		115						Missense_Mutation	SNP	ENST00000326282.4	37	c.343G>C	CCDS12539.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431395	0.83776	.	.	ENSG00000176401	ENST00000326282	T	0.51325	0.71	2.37	2.37	0.29283	.	.	.	.	.	T	0.49270	0.1547	N	0.19112	0.55	0.09310	N	1	D	0.76494	0.999	D	0.70935	0.971	T	0.28839	-1.0031	9	0.72032	D	0.01	.	8.3959	0.32557	0.0:1.0:0.0:0.0	.	115	Q96D98	EID2B_HUMAN	Q	115	ENSP00000317564:E115Q	ENSP00000317564:E115Q	E	-	1	0	EID2B	44714940	0.025000	0.19082	0.133000	0.22050	0.906000	0.53458	2.283000	0.43470	1.651000	0.50673	0.460000	0.39030	GAG		0.557	EID2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464961.1	NM_152361		34	60	0	0	0	0	34	60				
FCGBP	8857	broad.mit.edu	37	19	40430302	40430302	+	Silent	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:40430302A>G	ENST00000221347.6	-	3	1648	c.1641T>C	c.(1639-1641)gtT>gtC	p.V547V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	547	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGACGAAGCCAACTTCACCGC	0.647																																						uc002omp.3		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(1639-1641)GTT>GTC		Fc fragment of IgG binding protein precursor							48.0	40.0	43.0					19																	40430302		2203	4299	6502	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40430302A>G	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.1641T>C	19.37:g.40430302A>G							p.V547V	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		3	1649	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		547			VWFD 1.		O95784	Silent	SNP	ENST00000221347.6	37	c.1641T>C	CCDS12546.1																																																																																				0.647	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		12	31	0	0	0	0	12	31				
MAP3K10	4294	broad.mit.edu	37	19	40698342	40698342	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:40698342C>T	ENST00000253055.3	+	1	692	c.404C>T	c.(403-405)cCg>cTg	p.P135L	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	135	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GAGAAGGACCCGGCAGTGACA	0.662																																						uc002ona.2		NA																	0				ovary(2)|lung(2)|skin(1)|pancreas(1)	6						c.(403-405)CCG>CTG		mitogen-activated protein kinase kinase kinase																																				SO:0001583	missense	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40698342C>T	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.404C>T	19.37:g.40698342C>T	ENSP00000253055:p.Pro135Leu						p.P135L	NM_002446	NP_002437	Q02779	M3K10_HUMAN			1	692	+			135			Protein kinase.		Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	c.404C>T	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074880	0.36566	.	.	ENSG00000130758	ENST00000253055	D	0.82344	-1.6	4.3	4.3	0.51218	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.143350	0.45126	D	0.000391	T	0.69513	0.3119	N	0.25789	0.76	0.46678	D	0.999159	B	0.16396	0.017	B	0.22386	0.039	T	0.61744	-0.7000	10	0.16420	T	0.52	.	7.982	0.30190	0.0:0.8915:0.0:0.1085	.	135	Q02779	M3K10_HUMAN	L	135	ENSP00000253055:P135L	ENSP00000253055:P135L	P	+	2	0	MAP3K10	45390182	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.210000	0.51129	2.232000	0.73038	0.655000	0.94253	CCG		0.662	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		12	67	0	0	0	0	12	67				
SPTBN4	57731	broad.mit.edu	37	19	41074133	41074133	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:41074133G>C	ENST00000352632.3	+	31	6987	c.6901G>C	c.(6901-6903)Gag>Cag	p.E2301Q	SPTBN4_ENST00000392025.1_Missense_Mutation_p.E1044Q|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E2301Q			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2301					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCGGCGCTTGGAGCGGCAGGA	0.667																																						uc002ony.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(6901-6903)GAG>CAG		spectrin, beta, non-erythrocytic 4 isoform																																				SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41074133G>C	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.6901G>C	19.37:g.41074133G>C	ENSP00000263373:p.Glu2301Gln					SPTBN4_uc002onz.2_Missense_Mutation_p.E2301Q|SPTBN4_uc010egx.2_Missense_Mutation_p.E1044Q	p.E2301Q	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		31	6987	+			2301					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.6901G>C	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668862	0.67814	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000392025	T;T	0.78003	-1.14;0.09	4.69	4.69	0.59074	.	0.101063	0.36482	U	0.002574	T	0.74884	0.3775	L	0.27053	0.805	0.80722	D	1	P;P	0.52842	0.956;0.956	P;P	0.50825	0.651;0.651	T	0.77686	-0.2495	10	0.49607	T	0.09	.	16.3907	0.83537	0.0:0.0:1.0:0.0	.	1044;2301	C9JY79;Q9H254	.;SPTN4_HUMAN	Q	2301;2301;1044	ENSP00000263373:E2301Q;ENSP00000375879:E1044Q	ENSP00000263373:E2301Q	E	+	1	0	SPTBN4	45765973	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.470000	0.90399	2.131000	0.65755	0.561000	0.74099	GAG		0.667	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			2	9	0	0	0	0	2	9				
CCDC97	90324	broad.mit.edu	37	19	41825513	41825513	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:41825513C>G	ENST00000269967.3	+	3	659	c.537C>G	c.(535-537)ttC>ttG	p.F179L		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	179										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						AGATGCGGTTCCGGGCCCCCC	0.627																																						uc002oqg.2		NA																	0					0						c.(535-537)TTC>TTG		coiled-coil domain containing 97							95.0	91.0	92.0					19																	41825513		2203	4300	6503	SO:0001583	missense	90324							g.chr19:41825513C>G	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.537C>G	19.37:g.41825513C>G	ENSP00000269967:p.Phe179Leu					CYP2F1_uc010xvw.1_Intron	p.F179L	NM_052848	NP_443080	Q96F63	CCD97_HUMAN			3	659	+			179					Q658N6|Q96IF3	Missense_Mutation	SNP	ENST00000269967.3	37	c.537C>G	CCDS12578.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317408	0.23908	.	.	ENSG00000142039	ENST00000269967	.	.	.	4.94	-2.2	0.06994	.	0.858706	0.10330	N	0.687691	T	0.07279	0.0184	N	0.00873	-1.125	0.19575	N	0.999966	B	0.02656	0.0	B	0.04013	0.001	T	0.30357	-0.9981	9	0.27082	T	0.32	-2.2021	2.226	0.03984	0.1179:0.4354:0.2305:0.2162	.	179	Q96F63	CCD97_HUMAN	L	179	.	ENSP00000269967:F179L	F	+	3	2	CCDC97	46517353	0.408000	0.25360	0.978000	0.43139	0.925000	0.55904	-0.399000	0.07250	-0.136000	0.11475	0.462000	0.41574	TTC		0.627	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848		34	158	0	0	0	0	34	158				
POU2F2	5452	broad.mit.edu	37	19	42600360	42600360	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:42600360G>C	ENST00000526816.2	-	8	552	c.537C>G	c.(535-537)ctC>ctG	p.L179L	POU2F2_ENST00000560398.1_Intron|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000529952.1_Silent_p.L179L|POU2F2_ENST00000389341.5_Intron|POU2F2_ENST00000342301.4_Silent_p.L179L|POU2F2_ENST00000529067.1_Intron|POU2F2_ENST00000533720.1_Intron			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	179					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	GCGGGTGCGAGAGGTGCGGGT	0.687																																						uc002osp.2		NA																	0				ovary(1)|skin(1)	2						c.(535-537)CTC>CTG		POU domain, class 2, transcription factor 2							23.0	24.0	23.0					19																	42600360		2203	4300	6503	SO:0001819	synonymous_variant	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42600360G>C		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.537C>G	19.37:g.42600360G>C						POU2F2_uc002osn.2_Intron|POU2F2_uc002oso.2_5'UTR|POU2F2_uc002osq.2_Intron|POU2F2_uc002osr.1_Silent_p.L179L	p.L179L	NM_002698	NP_002689	P09086	PO2F2_HUMAN			8	604	-		Prostate(69;0.059)	179					Q16648|Q7M4M8|Q9BRS4	Silent	SNP	ENST00000526816.2	37	c.537C>G	CCDS56095.1																																																																																				0.687	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			6	29	0	0	0	0	6	29				
PSG8	440533	broad.mit.edu	37	19	43268174	43268174	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:43268174C>T	ENST00000306511.4	-	2	421	c.324G>A	c.(322-324)ctG>ctA	p.L108L	PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Silent_p.L108L|PSG8_ENST00000404209.4_Silent_p.L108L	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	108	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CATTCTGGATCAGCAGGGATG	0.418																																						uc002ouo.2		NA																	0					0						c.(322-324)CTG>CTA		pregnancy specific beta-1-glycoprotein 8 isoform							376.0	379.0	378.0					19																	43268174		2203	4299	6502	SO:0001819	synonymous_variant	440533					extracellular region		g.chr19:43268174C>T	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.324G>A	19.37:g.43268174C>T						PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc002oui.2_Intron|PSG8_uc002ouh.2_Silent_p.L108L|PSG8_uc010ein.2_Intron|PSG8_uc002ouj.3_5'UTR|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Silent_p.L108L|PSG8_uc002oum.3_Silent_p.L108L|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Silent_p.L108L	p.L108L	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			2	422	-		Prostate(69;0.00899)	108			Ig-like V-type.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Silent	SNP	ENST00000306511.4	37	c.324G>A	CCDS33037.1																																																																																				0.418	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			179	481	0	0	0	0	179	481				
PSG5	5673	broad.mit.edu	37	19	43689186	43689186	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:43689186G>C	ENST00000366175.3	-	2	308	c.178C>G	c.(178-180)Cag>Gag	p.Q60E	PSG5_ENST00000599812.1_Missense_Mutation_p.Q60E|PSG5_ENST00000404580.1_Missense_Mutation_p.Q60E|PSG5_ENST00000407356.1_Missense_Mutation_p.Q60E|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000407568.1_Missense_Mutation_p.Q60E|PSG5_ENST00000342951.6_Missense_Mutation_p.Q60E			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	60	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GCAAGATTCTGAGGCAAATTG	0.448																																						uc002ovu.2		NA																	0				skin(3)	3						c.(178-180)CAG>GAG		pregnancy specific beta-1-glycoprotein 5							246.0	236.0	239.0					19																	43689186		2202	4295	6497	SO:0001583	missense	5673				female pregnancy	extracellular region		g.chr19:43689186G>C		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.178C>G	19.37:g.43689186G>C	ENSP00000382334:p.Gln60Glu					PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_5'UTR|PSG5_uc002ovx.2_Missense_Mutation_p.Q60E|PSG5_uc002ovv.2_Missense_Mutation_p.Q60E|PSG5_uc002ovw.2_Missense_Mutation_p.Q60E	p.Q60E	NM_002781	NP_002772	Q15238	PSG5_HUMAN			2	309	-		Prostate(69;0.00899)	60			Ig-like V-type.		Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	c.178C>G	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	N	1.801	-0.477050	0.04414	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000407568;ENST00000342951;ENST00000404580;ENST00000401992	T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0	1.56	-1.34	0.09143	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43166	0.1235	N	0.25286	0.73	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.16289	0.005;0.004;0.015	T	0.28776	-1.0033	9	0.44086	T	0.13	.	6.96	0.24591	0.0:0.4142:0.5858:0.0	.	60;60;60	E9PC55;Q15228;Q15238	.;.;PSG5_HUMAN	E	60	ENSP00000382334:Q60E;ENSP00000386008:Q60E;ENSP00000386053:Q60E;ENSP00000344413:Q60E;ENSP00000385250:Q60E	ENSP00000344413:Q60E	Q	-	1	0	PSG5	48381026	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.062000	0.14389	-0.222000	0.09958	-0.741000	0.03529	CAG		0.448	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		105	356	0	0	0	0	105	356				
ZNF296	162979	broad.mit.edu	37	19	45579002	45579002	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:45579002G>C	ENST00000303809.2	-	2	631	c.417C>G	c.(415-417)ctC>ctG	p.L139L	CTB-179K24.3_ENST00000586744.1_RNA	NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	139					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						GGCCTCTGAAGAGCTGACAGC	0.632																																						uc002pao.2		NA																	0					0						c.(415-417)CTC>CTG		zinc finger protein 296							49.0	55.0	53.0					19																	45579002		2203	4300	6503	SO:0001819	synonymous_variant	162979				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:45579002G>C	BC019352	CCDS12653.1	19q13.32	2013-01-08	2008-06-24	2008-06-24		ENSG00000170684		"""Zinc fingers, C2H2-type"""	15981	protein-coding gene	gene with protein product		613226	"""zinc finger protein 342"""	ZNF342		11063263, 14633674	Standard	NM_145288		Approved		uc002pao.3	Q8WUU4		ENST00000303809.2:c.417C>G	19.37:g.45579002G>C							p.L139L	NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN			2	474	-			139						Silent	SNP	ENST00000303809.2	37	c.417C>G	CCDS12653.1																																																																																				0.632	ZNF296-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457529.1	NM_145288		36	106	0	0	0	0	36	106				
MEIS3	56917	broad.mit.edu	37	19	47912796	47912796	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:47912796C>A	ENST00000558555.1	-	7	793	c.606G>T	c.(604-606)atG>atT	p.M202I	MEIS3_ENST00000559524.1_Missense_Mutation_p.M202I|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000561293.1_Missense_Mutation_p.M202I|MEIS3_ENST00000331559.5_Missense_Mutation_p.M185I|MEIS3_ENST00000561096.1_Missense_Mutation_p.M290I|MEIS3_ENST00000441740.2_Missense_Mutation_p.M185I			Q99687	MEIS3_HUMAN	Meis homeobox 3	202				M -> I (in Ref. 5). {ECO:0000305}.	negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CTCGAATCCACATATTATTCT	0.567																																						uc002pgu.2		NA																	0					0						c.(604-606)ATG>ATT		Meis1, myeloid ecotropic viral integration site							69.0	69.0	69.0					19																	47912796		2203	4300	6503	SO:0001583	missense	56917					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:47912796C>A	BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"""Homeoboxes / TALE class"""	29537	protein-coding gene	gene with protein product			"""Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"""			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.606G>T	19.37:g.47912796C>A	ENSP00000454073:p.Met202Ile					MEIS3_uc010xyp.1_5'Flank|MEIS3_uc002pgo.2_Missense_Mutation_p.M1I|MEIS3_uc002pgp.2_Missense_Mutation_p.M34I|MEIS3_uc002pgq.2_Missense_Mutation_p.M283I|MEIS3_uc002pgr.2_Missense_Mutation_p.M70I|MEIS3_uc002pgt.2_Missense_Mutation_p.M185I|MEIS3_uc002pgv.2_Missense_Mutation_p.M185I|MEIS3_uc002pgs.2_Missense_Mutation_p.M202I|MEIS3_uc010eld.2_Missense_Mutation_p.M202I	p.M202I	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)	7	1053	-		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	202	M -> I (in Ref. 5).				A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Missense_Mutation	SNP	ENST00000558555.1	37	c.606G>T		.	.	.	.	.	.	.	.	.	.	C	8.530	0.870835	0.17322	.	.	ENSG00000105419	ENST00000331559;ENST00000441740	D	0.86432	-2.12	4.58	-3.32	0.04973	.	0.591285	0.17363	N	0.176943	T	0.68302	0.2986	.	.	.	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.0;0.001;0.0	T	0.53718	-0.8399	9	0.18710	T	0.47	-7.7423	2.3454	0.04270	0.1256:0.3539:0.1281:0.3924	.	94;202;185;202;77	Q8TCW1;Q99687;Q99687-3;Q99687-2;Q59FK5	.;MEIS3_HUMAN;.;.;.	I	202;185	ENSP00000388667:M185I	ENSP00000333552:M202I	M	-	3	0	MEIS3	52604608	0.000000	0.05858	0.130000	0.21974	0.840000	0.47671	-3.116000	0.00597	-0.512000	0.06505	-0.295000	0.09555	ATG		0.567	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000417642.1	XM_085929		44	124	1	0	2.27e-22	2.43e-22	44	124				
SNRNP70	6625	broad.mit.edu	37	19	49611111	49611111	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:49611111G>A	ENST00000598441.1	+	10	949	c.725G>A	c.(724-726)aGa>aAa	p.R242K	SNRNP70_ENST00000221448.5_Missense_Mutation_p.R233K			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	242	Arg/Glu-rich (mixed charge).				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						CGGGAGCGCAGAGAGCGGAGC	0.746																																						uc002pmk.2		NA																	0					0						c.(724-726)AGA>AAA		U1 small nuclear ribonucleoprotein 70 kDa							5.0	6.0	6.0					19																	49611111		2035	3987	6022	SO:0001583	missense	6625				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:49611111G>A		CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"""RNA binding motif (RRM) containing"""	11150	protein-coding gene	gene with protein product		180740	"""small nuclear ribonucleoprotein 70kDa (RNP antigen)"""	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.725G>A	19.37:g.49611111G>A	ENSP00000472998:p.Arg242Lys					SNRNP70_uc002pmh.1_RNA|SNRNP70_uc002pmi.1_Missense_Mutation_p.R233K|SNRNP70_uc002pml.2_Missense_Mutation_p.E29K|SNRNP70_uc002pmm.2_RNA	p.R242K	NM_003089	NP_003080	P08621	RU17_HUMAN			10	1164	+			242			Arg/Glu-rich (mixed charge).		B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Missense_Mutation	SNP	ENST00000598441.1	37	c.725G>A	CCDS12756.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642424	0.67244	.	.	ENSG00000104852	ENST00000221448;ENST00000544278	.	.	.	3.64	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.42562	0.1208	N	0.19112	0.55	0.58432	D	0.999993	B;B	0.10296	0.003;0.001	B;B	0.14023	0.004;0.01	T	0.34329	-0.9833	9	0.36615	T	0.2	-1.3582	14.5986	0.68424	0.0:0.0:1.0:0.0	.	242;233	P08621;P08621-2	RU17_HUMAN;.	K	242;146	.	ENSP00000221448:R242K	R	+	2	0	SNRNP70	54302923	1.000000	0.71417	0.947000	0.38551	0.936000	0.57629	6.169000	0.71913	2.050000	0.60909	0.305000	0.20034	AGA		0.746	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466266.1	NM_003089		4	9	0	0	0	0	4	9				
PNKP	11284	broad.mit.edu	37	19	50364730	50364730	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:50364730G>A	ENST00000322344.3	-	16	1533	c.1424C>T	c.(1423-1425)tCa>tTa	p.S475L	AC018766.5_ENST00000593654.1_RNA|AC018766.5_ENST00000601893.1_RNA|PNKP_ENST00000596014.1_Missense_Mutation_p.S475L|PNKP_ENST00000600573.1_Missense_Mutation_p.S444L|AC018766.4_ENST00000596624.1_RNA|PNKP_ENST00000600910.1_Silent_p.V438V|AC018766.5_ENST00000599259.1_RNA	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	475	Kinase. {ECO:0000250}.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GACCATGTCTGACACGGGGAT	0.622								Other BER factors																														uc002pqh.2		NA																	0				ovary(1)|kidney(1)	2						c.(1423-1425)TCA>TTA	Other_BER_factors	polynucleotide kinase 3' phosphatase							98.0	94.0	95.0					19																	50364730		2203	4300	6503	SO:0001583	missense	11284				DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	g.chr19:50364730G>A	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.1424C>T	19.37:g.50364730G>A	ENSP00000323511:p.Ser475Leu					PNKP_uc002pqg.2_Missense_Mutation_p.S256L|PNKP_uc002pqi.2_Missense_Mutation_p.S436L|PNKP_uc002pqj.2_Missense_Mutation_p.S475L|PNKP_uc010enm.2_Missense_Mutation_p.S444L|PNKP_uc002pqk.2_Silent_p.V438V	p.S475L	NM_007254	NP_009185	Q96T60	PNKP_HUMAN		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)	15	1476	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	475					Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Missense_Mutation	SNP	ENST00000322344.3	37	c.1424C>T	CCDS12783.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.197411	0.38806	.	.	ENSG00000039650	ENST00000322344	T	0.46063	0.88	4.38	3.32	0.38043	.	0.405020	0.22453	N	0.059863	T	0.54224	0.1845	M	0.70595	2.14	0.20563	N	0.999884	P;P	0.46578	0.88;0.88	P;P	0.54889	0.763;0.662	T	0.47446	-0.9117	10	0.72032	D	0.01	-18.0315	10.0896	0.42439	0.0:0.204:0.796:0.0	.	436;475	Q9BUL2;Q96T60	.;PNKP_HUMAN	L	475	ENSP00000323511:S475L	ENSP00000323511:S475L	S	-	2	0	PNKP	55056542	0.039000	0.19947	0.008000	0.14137	0.059000	0.15707	0.658000	0.24979	1.042000	0.40150	0.467000	0.42956	TCA		0.622	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254		27	83	0	0	0	0	27	83				
ZNF473	25888	broad.mit.edu	37	19	50549104	50549104	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:50549104C>T	ENST00000595661.1	+	6	1899	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F	ZNF473_ENST00000391821.2_Silent_p.F468F|ZNF473_ENST00000270617.3_Silent_p.F468F|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Silent_p.F456F|ZNF473_ENST00000601364.1_Intron			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	468	Interaction with SLBP/pre-mRNA complex.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCAGGAGTTTCAGCCGGCCCT	0.522																																						uc002prn.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1402-1404)TTC>TTT		zinc finger protein 473							64.0	57.0	59.0					19																	50549104		2203	4300	6503	SO:0001819	synonymous_variant	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50549104C>T	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.1404C>T	19.37:g.50549104C>T						ZNF473_uc002prm.2_Silent_p.F468F|ZNF473_uc010ybo.1_Silent_p.F456F	p.F468F	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	5	1641	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	468			Interaction with SLBP/pre-mRNA complex.|C2H2-type 8.		A8K8T7|Q9ULS9|Q9Y4Q7	Silent	SNP	ENST00000595661.1	37	c.1404C>T	CCDS33077.1																																																																																				0.522	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		11	38	0	0	0	0	11	38				
LRRC4B	94030	broad.mit.edu	37	19	51022334	51022334	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:51022334G>A	ENST00000599957.1	-	3	833	c.636C>T	c.(634-636)ctC>ctT	p.L212L	LRRC4B_ENST00000389201.3_Silent_p.L212L			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	212					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TGCCCAGGTTGAGGTAGCGCA	0.677																																						uc002pss.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(634-636)CTC>CTT		leucine rich repeat containing 4B precursor							45.0	52.0	50.0					19																	51022334		2175	4269	6444	SO:0001819	synonymous_variant	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51022334G>A	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.636C>T	19.37:g.51022334G>A							p.L212L	NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	773	-		all_neural(266;0.131)	212			Extracellular (Potential).|LRR 6.		Q3ZCQ4|Q58F20	Silent	SNP	ENST00000599957.1	37	c.636C>T	CCDS42595.1																																																																																				0.677	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		14	23	0	0	0	0	14	23				
ZNF836	162962	broad.mit.edu	37	19	52659726	52659726	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:52659726G>A	ENST00000322146.8	-	5	1731	c.1210C>T	c.(1210-1212)Cat>Tat	p.H404Y	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.H404Y	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	404					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACTGTCTGATGAGTTGCCAGG	0.403																																						uc010ydi.1		NA																	0					0						c.(1210-1212)CAT>TAT		zinc finger protein 836							106.0	112.0	110.0					19																	52659726		2189	4299	6488	SO:0001583	missense	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52659726G>A	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1210C>T	19.37:g.52659726G>A	ENSP00000325038:p.His404Tyr					ZNF836_uc010ydj.1_Missense_Mutation_p.H404Y	p.H404Y	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN			5	1584	-			404			C2H2-type 7.			Missense_Mutation	SNP	ENST00000322146.8	37	c.1210C>T	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.979870	0.53827	.	.	ENSG00000196267	ENST00000322146	D	0.86769	-2.17	1.74	1.74	0.24563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95027	0.8390	H	0.96748	3.875	0.27935	N	0.937734	D	0.89917	1.0	D	0.81914	0.995	D	0.87521	0.2446	9	0.87932	D	0	.	10.4306	0.44405	0.0:0.0:1.0:0.0	.	404	Q6ZNA1	ZN836_HUMAN	Y	404	ENSP00000325038:H404Y	ENSP00000325038:H404Y	H	-	1	0	ZNF836	57351538	1.000000	0.71417	0.045000	0.18777	0.067000	0.16453	7.772000	0.85439	0.951000	0.37770	0.305000	0.20034	CAT		0.403	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		5	105	0	0	0	0	5	105				
PPP2R1A	5518	broad.mit.edu	37	19	52724383	52724383	+	Silent	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:52724383C>A	ENST00000322088.6	+	12	1573	c.1515C>A	c.(1513-1515)atC>atA	p.I505I	PPP2R1A_ENST00000444322.2_Silent_p.I450I|CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000462990.1_Silent_p.I326I	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	505	PP2A subunit C binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TCTTCTGCATCAATGTGAGCC	0.597			Mis		clear cell ovarian carcinoma																																	uc002pyp.2		NA		Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		0				endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66						c.(1513-1515)ATC>ATA		alpha isoform of regulatory subunit A, protein							150.0	124.0	133.0					19																	52724383		2203	4300	6503	SO:0001819	synonymous_variant	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52724383C>A		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1515C>A	19.37:g.52724383C>A						PPP2R1A_uc010ydk.1_Silent_p.I450I|PPP2R1A_uc002pyq.2_Silent_p.I326I	p.I505I	NM_014225	NP_055040	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	12	1674	+			505			PP2A subunit C binding.|HEAT 13.		Q13773|Q6ICQ3|Q96DH3	Silent	SNP	ENST00000322088.6	37	c.1515C>A	CCDS12849.1																																																																																				0.597	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		38	129	1	0	4.33e-17	4.61e-17	38	129				
ZNF534	147658	broad.mit.edu	37	19	52941053	52941053	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:52941053C>T	ENST00000332323.6	+	4	440	c.379C>T	c.(379-381)Cag>Tag	p.Q127*	ZNF534_ENST00000433050.1_Nonsense_Mutation_p.Q114*|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						ATTAACTCTTCAGTTACATCT	0.348																																						uc002pzk.2		NA																	0					0						c.(379-381)CAG>TAG		zinc finger protein 534 isoform 2							71.0	61.0	64.0					19																	52941053		1568	3582	5150	SO:0001587	stop_gained	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52941053C>T	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.379C>T	19.37:g.52941053C>T	ENSP00000327538:p.Gln127*					ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Nonsense_Mutation_p.Q114*	p.Q127*	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN			4	440	+			127					Q76KX9	Nonsense_Mutation	SNP	ENST00000332323.6	37	c.379C>T	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709986	0.48517	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	.	.	.	1.28	1.28	0.21552	.	.	.	.	.	.	.	.	.	.	.	0.25723	N	0.985356	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	7.5045	0.27536	0.0:1.0:0.0:0.0	.	.	.	.	X	127;114;126	.	ENSP00000327538:Q127X	Q	+	1	0	ZNF534	57632865	0.011000	0.17503	0.007000	0.13788	0.338000	0.28826	-0.022000	0.12480	0.641000	0.30601	0.205000	0.17691	CAG		0.348	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		19	43	0	0	0	0	19	43				
ZNF83	55769	broad.mit.edu	37	19	53117232	53117232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:53117232G>A	ENST00000597597.1	-	2	2839	c.586C>T	c.(586-588)Caa>Taa	p.Q196*	ZNF83_ENST00000536937.1_Nonsense_Mutation_p.Q196*|ZNF83_ENST00000541777.2_Nonsense_Mutation_p.Q196*|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000544146.1_Nonsense_Mutation_p.Q196*|ZNF83_ENST00000301096.3_Nonsense_Mutation_p.Q196*|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000545872.1_Nonsense_Mutation_p.Q196*|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000391789.4_Nonsense_Mutation_p.Q196*			P51522	ZNF83_HUMAN	zinc finger protein 83	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TGAATTCTTTGATGTTGTGCA	0.383																																						uc002pzu.3		NA																	0				ovary(1)	1						c.(586-588)CAA>TAA		zinc finger protein 83 isoform a							68.0	67.0	68.0					19																	53117232		2203	4300	6503	SO:0001587	stop_gained	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53117232G>A	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.586C>T	19.37:g.53117232G>A	ENSP00000472619:p.Gln196*					ZNF83_uc002pzv.3_Nonsense_Mutation_p.Q196*|ZNF83_uc010eps.2_Nonsense_Mutation_p.Q196*|ZNF83_uc010ept.2_Nonsense_Mutation_p.Q196*|ZNF83_uc010epu.2_Nonsense_Mutation_p.Q196*|ZNF83_uc010epv.2_Nonsense_Mutation_p.Q196*|ZNF83_uc010epw.2_Nonsense_Mutation_p.Q196*|ZNF83_uc010epx.2_Nonsense_Mutation_p.Q196*|ZNF83_uc010epy.2_Nonsense_Mutation_p.Q196*|ZNF83_uc010epz.2_Nonsense_Mutation_p.Q196*|ZNF83_uc010eqb.1_Nonsense_Mutation_p.Q196*	p.Q196*	NM_018300	NP_060770	P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	1830	-			196			C2H2-type 4.		A8MT75|Q3ZCX0|Q6PI08	Nonsense_Mutation	SNP	ENST00000597597.1	37	c.586C>T	CCDS12854.1	.	.	.	.	.	.	.	.	.	.	g	23.7	4.450250	0.84101	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	.	.	.	1.7	-2.56	0.06268	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	4.1925	0.10428	0.2565:0.3691:0.3743:0.0	.	.	.	.	X	196	.	ENSP00000301096:Q196X	Q	-	1	0	ZNF83	57809044	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	-0.006000	0.12833	-0.564000	0.06070	-0.373000	0.07131	CAA		0.383	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		42	141	0	0	0	0	42	141				
ZNF415	55786	broad.mit.edu	37	19	53612605	53612605	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:53612605C>T	ENST00000500065.4	-	4	1026	c.693G>A	c.(691-693)atG>atA	p.M231I	ZNF415_ENST00000421033.1_Missense_Mutation_p.M243I|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000455735.2_Missense_Mutation_p.M279I|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.M279I|ZNF415_ENST00000440291.1_Missense_Mutation_p.M218I|ZNF415_ENST00000243643.4_Missense_Mutation_p.M231I|ZNF415_ENST00000601493.1_Start_Codon_SNP_p.M1I	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	279					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M231I(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		GACGTACAGTCATGTGTGAGC	0.403																																						uc002qax.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(835-837)ATG>ATA		RecName: Full=Zinc finger protein 415;							141.0	116.0	124.0					19																	53612605		2203	4300	6503	SO:0001583	missense	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53612605C>T	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.693G>A	19.37:g.53612605C>T	ENSP00000439435:p.Met231Ile					ZNF415_uc002qat.2_Missense_Mutation_p.M243I|ZNF415_uc002qaw.2_Missense_Mutation_p.M231I|ZNF415_uc010yds.1_Missense_Mutation_p.M231I|ZNF415_uc010ydt.1_Missense_Mutation_p.M231I|ZNF415_uc002qau.2_Missense_Mutation_p.M218I|ZNF415_uc002qav.2_Missense_Mutation_p.M243I|ZNF415_uc002qba.2_Missense_Mutation_p.M1I|ZNF415_uc002qay.2_Missense_Mutation_p.M218I|ZNF415_uc002qaz.2_Missense_Mutation_p.M279I	p.M279I	NR_028343		Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	1186	-			279			C2H2-type 1; degenerate.		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	37	c.837G>A	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	C	7.444	0.641228	0.14451	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67	2.61	-5.22	0.02806	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10551	0.0258	N	0.02916	-0.46	0.09310	N	1	B;B;B;B;B;B	0.29085	0.0;0.034;0.0;0.015;0.0;0.232	B;B;B;B;B;B	0.30251	0.0;0.053;0.0;0.016;0.0;0.113	T	0.27739	-1.0065	9	0.87932	D	0	.	2.8929	0.05681	0.557:0.2064:0.1341:0.1025	.	231;279;279;231;218;243	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	I	231;231;279;243;279;218	ENSP00000243643:M231I;ENSP00000439435:M231I;ENSP00000396492:M279I;ENSP00000395055:M243I;ENSP00000388787:M279I;ENSP00000414601:M218I	ENSP00000243643:M231I	M	-	3	0	ZNF415	58304417	0.001000	0.12720	0.000000	0.03702	0.107000	0.19398	-0.265000	0.08644	-2.937000	0.00298	0.313000	0.20887	ATG		0.403	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		54	134	0	0	0	0	54	134				
ZNF331	55422	broad.mit.edu	37	19	54080889	54080889	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:54080889G>C	ENST00000253144.9	+	7	2408	c.1075G>C	c.(1075-1077)Gaa>Caa	p.E359Q	ZNF331_ENST00000512387.1_Missense_Mutation_p.E359Q|ZNF331_ENST00000511154.1_Missense_Mutation_p.E359Q|ZNF331_ENST00000513265.1_3'UTR|ZNF331_ENST00000449416.1_Missense_Mutation_p.E359Q|ZNF331_ENST00000513999.1_Missense_Mutation_p.E359Q|ZNF331_ENST00000511593.2_Missense_Mutation_p.E359Q|ZNF331_ENST00000411977.2_Missense_Mutation_p.E359Q	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	359					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CAAGTGCACAGAATGTGGGAA	0.527			T	?	follicular thyroid adenoma																																	uc002qbx.1		NA		Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	?		follicular thyroid adenoma		0				skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)	6						c.(1075-1077)GAA>CAA		zinc finger protein 331							106.0	92.0	97.0					19																	54080889		2203	4300	6503	SO:0001583	missense	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54080889G>C	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.1075G>C	19.37:g.54080889G>C	ENSP00000253144:p.Glu359Gln					ZNF331_uc002qby.1_Missense_Mutation_p.E359Q|ZNF331_uc002qbz.1_Missense_Mutation_p.E359Q|ZNF331_uc002qca.1_Missense_Mutation_p.E359Q|ZNF331_uc010eqr.1_Missense_Mutation_p.E359Q|ZNF331_uc002qcb.1_Missense_Mutation_p.E359Q|ZNF331_uc002qcc.1_Missense_Mutation_p.E359Q|ZNF331_uc002qcd.1_Missense_Mutation_p.E359Q	p.E359Q	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	7	2509	+			359			C2H2-type 9.		Q96GJ4	Missense_Mutation	SNP	ENST00000253144.9	37	c.1075G>C	CCDS33102.1	.	.	.	.	.	.	.	.	.	.	G	6.081	0.383317	0.11524	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	T;T;T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19;3.19;3.19	4.08	0.233	0.15386	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.227469	0.22390	N	0.060690	T	0.04497	0.0123	N	0.20445	0.575	0.09310	N	0.999999	B	0.06786	0.001	B	0.12837	0.008	T	0.42682	-0.9437	10	0.21014	T	0.42	.	7.2504	0.26146	0.1034:0.5233:0.3733:0.0	.	359	Q9NQX6	ZN331_HUMAN	Q	359	ENSP00000253144:E359Q;ENSP00000427439:E359Q;ENSP00000393817:E359Q;ENSP00000393336:E359Q;ENSP00000421014:E359Q;ENSP00000423156:E359Q;ENSP00000421728:E359Q	ENSP00000253144:E359Q	E	+	1	0	ZNF331	58772701	0.000000	0.05858	0.012000	0.15200	0.269000	0.26545	0.201000	0.17276	0.436000	0.26393	0.655000	0.94253	GAA		0.527	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		22	64	0	0	0	0	22	64				
KIR3DL1	3811	broad.mit.edu	37	19	55340901	55340901	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:55340901C>G	ENST00000391728.4	+	7	1119	c.1086C>G	c.(1084-1086)ctC>ctG	p.L362L	KIR3DL1_ENST00000326542.7_Silent_p.L345L|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Silent_p.L362L|KIR3DL1_ENST00000541392.1_Silent_p.L345L|KIR3DL1_ENST00000358178.4_Silent_p.L267L	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	362			L -> R (in dbSNP:rs1130468).		immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		tccttcatctcTGGTGCTCCA	0.532																																						uc002qhk.3		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5						c.(1084-1086)CTC>CTG		killer cell immunoglobulin-like receptor, three							196.0	151.0	166.0					19																	55340901		2171	4149	6320	SO:0001819	synonymous_variant	3811				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	g.chr19:55340901C>G	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1086C>G	19.37:g.55340901C>G						KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Silent_p.L287L|KIR3DL1_uc010esf.2_Silent_p.L267L|KIR3DL1_uc010yfo.1_Silent_p.L304L|KIR3DL1_uc002qhl.3_Intron	p.L362L	NM_013289	NP_037421	P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	7	1149	+			362			Cytoplasmic (Potential).		O43473|Q14946|Q16541	Silent	SNP	ENST00000391728.4	37	c.1086C>G	CCDS42621.1																																																																																				0.532	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		52	80	0	0	0	0	52	80				
NLRP7	199713	broad.mit.edu	37	19	55450851	55450851	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:55450851G>A	ENST00000590030.1	-	3	1376	c.1336C>T	c.(1336-1338)Cgt>Tgt	p.R446C	NLRP7_ENST00000588756.1_Missense_Mutation_p.R446C|NLRP7_ENST00000592784.1_Missense_Mutation_p.R446C|NLRP7_ENST00000328092.5_Missense_Mutation_p.R446C|NLRP7_ENST00000340844.2_Missense_Mutation_p.R446C|NLRP7_ENST00000446217.1_Missense_Mutation_p.R474C|NLRP7_ENST00000448121.2_Missense_Mutation_p.R446C			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	446	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGGAACAGACGGAGGTCGGAC	0.632																																						uc002qih.3		NA																	0				large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(1336-1338)CGT>TGT		NACHT, leucine rich repeat and PYD containing 7							37.0	33.0	34.0					19																	55450851		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55450851G>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1336C>T	19.37:g.55450851G>A	ENSP00000465520:p.Arg446Cys					NLRP7_uc002qig.3_Missense_Mutation_p.R446C|NLRP7_uc002qii.3_Missense_Mutation_p.R446C|NLRP7_uc010esk.2_Missense_Mutation_p.R446C|NLRP7_uc010esl.2_Missense_Mutation_p.R474C	p.R446C	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	1412	-			446			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.1336C>T	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	G	7.292	0.611273	0.14066	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.73575	-0.71;-0.71;-0.76;-0.73	1.92	-1.84	0.07809	.	1.827760	0.03383	N	0.200681	T	0.54515	0.1863	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.28971	0.229;0.128;0.128;0.203	B;B;B;B	0.19148	0.02;0.011;0.011;0.024	T	0.38067	-0.9678	10	0.49607	T	0.09	.	0.7678	0.01018	0.1694:0.2546:0.352:0.2239	.	474;446;446;446	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	C	446;446;446;474;213	ENSP00000329568:R446C;ENSP00000409137:R446C;ENSP00000339491:R446C;ENSP00000414273:R474C	ENSP00000329568:R446C	R	-	1	0	NLRP7	60142663	0.000000	0.05858	0.000000	0.03702	0.256000	0.26092	-1.518000	0.02246	-0.369000	0.08028	0.462000	0.41574	CGT		0.632	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		21	70	0	0	0	0	21	70				
PPP6R1	22870	broad.mit.edu	37	19	55756738	55756738	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:55756738G>A	ENST00000412770.2	-	4	1013	c.447C>T	c.(445-447)ttC>ttT	p.F149F	PPP6R1_ENST00000587283.1_Silent_p.F149F	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	149	Interaction with PPP6C.				regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						GCAGGTCCACGAAGTCATCCT	0.647																																						uc002qjw.3		NA																	0					0						c.(445-447)TTC>TTT		SAPS domain family, member 1							42.0	48.0	46.0					19																	55756738		2164	4273	6437	SO:0001819	synonymous_variant	22870				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding	g.chr19:55756738G>A	AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	29195	protein-coding gene	gene with protein product		610875	"""KIAA1115"", ""SAPS domain family, member 1"""	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.447C>T	19.37:g.55756738G>A						SAPS1_uc002qjv.2_Silent_p.F211F	p.F149F	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	4	689	-		Renal(1328;0.245)	149			Interaction with PPP6C.		Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Silent	SNP	ENST00000412770.2	37	c.447C>T	CCDS46186.1																																																																																				0.647	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1	NM_014931		8	16	0	0	0	0	8	16				
SUV420H2	84787	broad.mit.edu	37	19	55853367	55853367	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:55853367C>T	ENST00000255613.3	+	2	311	c.63C>T	c.(61-63)ctC>ctT	p.L21L	SUV420H2_ENST00000402499.4_3'UTR|AC020922.1_ENST00000539076.1_5'UTR	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	21					histone H4-K20 trimethylation (GO:0034773)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCACCAGCCTCGTCCTGGACC	0.662																																						uc002qkj.3		NA																	0					0						c.(61-63)CTC>CTT		suppressor of variegation 4-20 homolog 2							114.0	98.0	103.0					19																	55853367		2203	4300	6503	SO:0001819	synonymous_variant	84787				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr19:55853367C>T	BC005842	CCDS12922.1	19q13.42	2011-07-01			ENSG00000133247	ENSG00000133247		"""Chromatin-modifying enzymes / K-methyltransferases"""	28405	protein-coding gene	gene with protein product		613198				12477932	Standard	NM_032701		Approved	MGC2705, KMT5C	uc002qkj.4	Q86Y97	OTTHUMG00000150483	ENST00000255613.3:c.63C>T	19.37:g.55853367C>T						SUV420H2_uc010esx.1_Silent_p.L21L|SUV420H2_uc002qkk.1_Silent_p.L21L|SUV420H2_uc002qkl.2_5'UTR	p.L21L	NM_032701	NP_116090	Q86Y97	SV422_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	2	311	+	Breast(117;0.191)		21					Q8WZ10|Q9BRZ6	Silent	SNP	ENST00000255613.3	37	c.63C>T	CCDS12922.1																																																																																				0.662	SUV420H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318309.2	NM_032701		43	108	0	0	0	0	43	108				
CCDC106	29903	broad.mit.edu	37	19	56162717	56162717	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:56162717G>A	ENST00000586790.1	+	4	1286	c.382G>A	c.(382-384)Gag>Aag	p.E128K	CCDC106_ENST00000591241.1_Missense_Mutation_p.E93K|CCDC106_ENST00000308964.3_Missense_Mutation_p.E128K|CCDC106_ENST00000588740.1_Missense_Mutation_p.E128K|U2AF2_ENST00000450554.2_5'Flank|CCDC106_ENST00000591578.1_Missense_Mutation_p.E128K			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	128						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GGCTGGGGGCGAGGCCTCGGA	0.667																																						uc002qlr.2		NA																	0					0						c.(382-384)GAG>AAG		coiled-coil domain containing 106							27.0	28.0	28.0					19																	56162717		2202	4300	6502	SO:0001583	missense	29903					nucleus		g.chr19:56162717G>A	AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581			30181	protein-coding gene	gene with protein product		613478				8619474, 9110174	Standard	XM_005258827		Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.382G>A	19.37:g.56162717G>A	ENSP00000465757:p.Glu128Lys					CCDC106_uc002qls.2_Missense_Mutation_p.E128K|U2AF2_uc002qlt.2_5'Flank|U2AF2_uc002qlu.2_5'Flank	p.E128K	NM_013301	NP_037433	Q9BWC9	CC106_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	5	1117	+		Colorectal(82;0.00403)|Ovarian(87;0.133)	128					B3KUF9|D3K183|Q99786	Missense_Mutation	SNP	ENST00000586790.1	37	c.382G>A	CCDS33118.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436407	0.43224	.	.	ENSG00000173581	ENST00000308964	.	.	.	2.66	2.66	0.31614	.	0.457454	0.21517	N	0.073281	T	0.21427	0.0516	N	0.14661	0.345	0.45378	D	0.998366	P	0.48407	0.91	B	0.32624	0.149	T	0.03364	-1.1044	9	0.24483	T	0.36	-30.8335	9.0	0.36077	0.0:0.0:1.0:0.0	.	128	Q9BWC9	CC106_HUMAN	K	128	.	ENSP00000309681:E128K	E	+	1	0	CCDC106	60854529	1.000000	0.71417	0.995000	0.50966	0.537000	0.34900	5.347000	0.65998	1.822000	0.53115	0.655000	0.94253	GAG		0.667	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453593.1	NM_013301		18	30	0	0	0	0	18	30				
NLRP11	204801	broad.mit.edu	37	19	56303801	56303801	+	Missense_Mutation	SNP	G	G	C	rs114762114		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:56303801G>C	ENST00000589093.1	-	7	2472	c.2379C>G	c.(2377-2379)agC>agG	p.S793R	NLRP11_ENST00000592953.1_Missense_Mutation_p.S694R|NLRP11_ENST00000589824.2_Missense_Mutation_p.S739R|NLRP11_ENST00000360133.3_Missense_Mutation_p.S739R|NLRP11_ENST00000443188.1_Missense_Mutation_p.S793R			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	793							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.S793S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TTCCAAGGGCGCTGCAGCAAT	0.493																																						uc010ygf.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(2377-2379)AGC>AGG		NLR family, pyrin domain containing 11							116.0	107.0	110.0					19																	56303801		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56303801G>C	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2379C>G	19.37:g.56303801G>C	ENSP00000466285:p.Ser793Arg					NLRP11_uc002qlz.2_Missense_Mutation_p.S640R|NLRP11_uc002qmb.2_Missense_Mutation_p.S694R|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	p.S793R	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	9	3090	-		Colorectal(82;0.0002)	793					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.2379C>G	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	G	6.584	0.476113	0.12521	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.47528	0.84;0.84	2.18	1.13	0.20643	.	.	.	.	.	T	0.31104	0.0786	N	0.13198	0.31	0.09310	N	1	P;P	0.52316	0.47;0.952	B;P	0.48488	0.128;0.579	T	0.10245	-1.0638	9	0.24483	T	0.36	.	4.5386	0.12045	0.1927:0.0:0.8073:0.0	.	793;739	P59045;P59045-2	NAL11_HUMAN;.	R	793;739	ENSP00000409898:S793R;ENSP00000353251:S739R	ENSP00000353251:S739R	S	-	3	2	NLRP11	60995613	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.361000	0.20267	0.474000	0.27392	0.650000	0.86243	AGC		0.493	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		35	101	0	0	0	0	35	101				
NLRP13	126204	broad.mit.edu	37	19	56423803	56423803	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:56423803G>A	ENST00000342929.3	-	5	1379	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F	NLRP13_ENST00000588751.1_Silent_p.F460F	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	460	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ACAAGTTGGAGAAAAAATAGG	0.507																																						uc010ygg.1		NA																	0				skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(1378-1380)TTC>TTT		NACHT, leucine rich repeat and PYD containing							82.0	83.0	83.0					19																	56423803		2203	4300	6503	SO:0001819	synonymous_variant	126204						ATP binding	g.chr19:56423803G>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1380C>T	19.37:g.56423803G>A							p.F460F	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	1405	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	460			NACHT.		Q7RTR5	Silent	SNP	ENST00000342929.3	37	c.1380C>T	CCDS33119.1																																																																																				0.507	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		42	106	0	0	0	0	42	106				
NLRP5	126206	broad.mit.edu	37	19	56515156	56515156	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:56515156C>T	ENST00000390649.3	+	2	137	c.137C>T	c.(136-138)tCt>tTt	p.S46F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	46					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AACCTGAGCTCTCAGCCTTGT	0.438																																						uc002qmj.2		NA																	0				ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(136-138)TCT>TTT		NACHT, LRR and PYD containing protein 5							115.0	109.0	111.0					19																	56515156		1853	4102	5955	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56515156C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.137C>T	19.37:g.56515156C>T	ENSP00000375063:p.Ser46Phe					NLRP5_uc002qmi.2_Missense_Mutation_p.S46F	p.S46F	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	2	137	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	46					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.137C>T	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	9.732	1.162563	0.21538	.	.	ENSG00000171487	ENST00000390649	T	0.72942	-0.7	3.15	-3.06	0.05379	.	.	.	.	.	T	0.44265	0.1285	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.12837	0.008	T	0.29671	-1.0004	9	0.87932	D	0	.	4.1017	0.10017	0.0:0.343:0.1845:0.4726	.	46	P59047	NALP5_HUMAN	F	46	ENSP00000375063:S46F	ENSP00000375063:S46F	S	+	2	0	NLRP5	61206968	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.406000	0.07187	-0.517000	0.06461	-0.261000	0.10672	TCT		0.438	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		48	132	0	0	0	0	48	132				
ZNF471	57573	broad.mit.edu	37	19	57027752	57027752	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:57027752C>G	ENST00000308031.5	+	3	275	c.142C>G	c.(142-144)Cag>Gag	p.Q48E	ZNF471_ENST00000591537.1_Missense_Mutation_p.Q48E|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	48	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GGAGAACTATCAGAGCCTGGT	0.373																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	uc002qnh.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(142-144)CAG>GAG		zinc finger protein 471							178.0	164.0	168.0					19																	57027752		2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57027752C>G	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.142C>G	19.37:g.57027752C>G	ENSP00000309161:p.Gln48Glu						p.Q48E	NM_020813	NP_065864	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	3	275	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	48			KRAB.		B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.142C>G	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348398	0.24426	.	.	ENSG00000196263	ENST00000308031	T	0.01584	4.75	3.92	1.65	0.23941	Krueppel-associated box (4);	.	.	.	.	T	0.01421	0.0046	N	0.16266	0.395	0.21290	N	0.999739	B	0.26400	0.148	B	0.25506	0.061	T	0.49735	-0.8908	9	0.19590	T	0.45	.	10.5352	0.45000	0.3077:0.6923:0.0:0.0	.	48	Q9BX82	ZN471_HUMAN	E	48	ENSP00000309161:Q48E	ENSP00000309161:Q48E	Q	+	1	0	ZNF471	61719564	0.000000	0.05858	0.916000	0.36221	0.992000	0.81027	-1.399000	0.02506	0.377000	0.24735	0.650000	0.86243	CAG		0.373	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		44	147	0	0	0	0	44	147				
ZNF471	57573	broad.mit.edu	37	19	57037129	57037129	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:57037129C>T	ENST00000308031.5	+	5	1826	c.1693C>T	c.(1693-1695)Cat>Tat	p.H565Y	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TCAAAGAATTCATACTGGAGA	0.423																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	uc002qnh.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1693-1695)CAT>TAT		zinc finger protein 471							74.0	76.0	75.0					19																	57037129		2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57037129C>T	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1693C>T	19.37:g.57037129C>T	ENSP00000309161:p.His565Tyr						p.H565Y	NM_020813	NP_065864	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	1826	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	565			C2H2-type 13.		B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.1693C>T	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624936	0.66901	.	.	ENSG00000196263	ENST00000308031	T	0.67523	-0.27	3.9	3.9	0.45041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.86280	0.5895	H	0.95437	3.67	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.90763	0.4666	9	0.87932	D	0	.	14.8082	0.69974	0.0:1.0:0.0:0.0	.	565	Q9BX82	ZN471_HUMAN	Y	565	ENSP00000309161:H565Y	ENSP00000309161:H565Y	H	+	1	0	ZNF471	61728941	0.998000	0.40836	0.223000	0.23860	0.976000	0.68499	5.125000	0.64715	2.005000	0.58758	0.462000	0.41574	CAT		0.423	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		30	86	0	0	0	0	30	86				
ZNF547	284306	broad.mit.edu	37	19	57883219	57883219	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:57883219C>T	ENST00000282282.3	+	3	244	c.94C>T	c.(94-96)Cag>Tag	p.Q32*	AC003002.4_ENST00000597658.1_Nonsense_Mutation_p.Q32*	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	32	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)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CGATGAGGCTCAGAGATTGCT	0.512																																						uc002qol.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(94-96)CAG>TAG		zinc finger protein 547							388.0	355.0	366.0					19																	57883219		2203	4300	6503	SO:0001587	stop_gained	284306				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57883219C>T	AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"""Zinc fingers, C2H2-type"", ""-"""	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.94C>T	19.37:g.57883219C>T	ENSP00000282282:p.Gln32*					ZNF547_uc010ygx.1_Nonsense_Mutation_p.Q32*	p.Q32*	NM_173631	NP_775902	Q8IVP9	ZN547_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	287	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	32			KRAB.		A8K5Z9|Q96NC4	Nonsense_Mutation	SNP	ENST00000282282.3	37	c.94C>T	CCDS33131.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558864	0.86231	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	.	.	.	2.01	2.01	0.26516	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.5401	0.27733	0.0:1.0:0.0:0.0	.	.	.	.	X	32	.	ENSP00000282282:Q32X	Q	+	1	0	ZNF547	62575031	0.936000	0.31750	0.124000	0.21820	0.906000	0.53458	1.893000	0.39758	1.438000	0.47492	0.561000	0.74099	CAG		0.512	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1	NM_173631		10	494	0	0	0	0	10	494				
ZNF134	7693	broad.mit.edu	37	19	58132674	58132674	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:58132674G>A	ENST00000396161.5	+	3	1497	c.1187G>A	c.(1186-1188)gGa>gAa	p.G396E		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	396					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GTTCACACTGGAGAAAGGCCA	0.498																																						uc002qpn.2		NA																	0					0						c.(1186-1188)GGA>GAA		zinc finger protein 134							109.0	113.0	111.0					19																	58132674		2203	4300	6503	SO:0001583	missense	7693					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58132674G>A	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"""Zinc fingers, C2H2-type"""	12918	protein-coding gene	gene with protein product		604076	"""zinc finger protein 134 (clone pHZ-15)"""			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.1187G>A	19.37:g.58132674G>A	ENSP00000379464:p.Gly396Glu					ZNF134_uc002qpo.2_Missense_Mutation_p.G223E|ZNF211_uc010yhb.1_5'UTR	p.G396E	NM_003435	NP_003426	P52741	ZN134_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	1286	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	396					Q9Y4B2	Missense_Mutation	SNP	ENST00000396161.5	37	c.1187G>A	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378248	0.82682	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	T	0.25749	1.78	4.09	4.09	0.47781	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46483	0.1395	L	0.54908	1.71	0.34962	D	0.752283	D	0.89917	1.0	D	0.91635	0.999	T	0.60058	-0.7337	9	0.66056	D	0.02	.	15.546	0.76101	0.0:0.0:1.0:0.0	.	396	P52741	ZN134_HUMAN	E	463;316;396	ENSP00000379464:G396E	ENSP00000379464:G396E	G	+	2	0	ZNF134	62824486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.798000	0.55522	2.260000	0.74910	0.563000	0.77884	GGA		0.498	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435		50	168	0	0	0	0	50	168				
ZNF551	90233	broad.mit.edu	37	19	58199369	58199369	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:58199369C>G	ENST00000282296.5	+	3	1911	c.1726C>G	c.(1726-1728)Caa>Gaa	p.Q576E	ZNF551_ENST00000356715.4_Missense_Mutation_p.Q560E|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	576					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(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TAGCCTCATTCAACACCAGAG	0.468																																						uc002qpw.3		NA																	0				ovary(1)	1						c.(1678-1680)CAA>GAA		zinc finger protein 551							84.0	85.0	84.0					19																	58199369		2203	4300	6503	SO:0001583	missense	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58199369C>G	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1726C>G	19.37:g.58199369C>G	ENSP00000282296:p.Gln576Glu					ZNF551_uc002qpv.3_Missense_Mutation_p.Q503E|ZNF776_uc002qpx.2_Intron	p.Q560E	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1901	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	576			C2H2-type 11.		B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	c.1678C>G	CCDS12959.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.360|5.360	0.251705|0.251705	0.10185|0.10185	.|.	.|.	ENSG00000228006|ENSG00000204519	ENST00000541705|ENST00000356715;ENST00000282296;ENST00000359821	.|.	.|.	.|.	2.79|2.79	-5.59|-5.59	0.02505|0.02505	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.11623|0.11623	0.0283|0.0283	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	.|B	.|0.15930	.|0.015	.|B	.|0.17098	.|0.017	T|T	0.37314|0.37314	-0.9711|-0.9711	6|8	0.66056|0.02654	D|T	0.02|1	.|.	7.4154|7.4154	0.27042|0.27042	0.5197:0.1521:0.3282:0.0|0.5197:0.1521:0.3282:0.0	.|.	.|576	.|Q7Z340	.|ZN551_HUMAN	F|E	12|576;560;359	.|.	ENSP00000437781:L12F|ENSP00000282296:Q560E	L|Q	-|+	3|1	2|0	AC004017.1|ZNF551	62891181|62891181	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.103000|0.103000	0.19146|0.19146	-6.152000|-6.152000	0.00078|0.00078	-0.954000|-0.954000	0.03640|0.03640	-0.304000|-0.304000	0.09214|0.09214	TTG|CAA		0.468	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		42	116	0	0	0	0	42	116				
ZNF329	79673	broad.mit.edu	37	19	58639517	58639517	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:58639517C>T	ENST00000598312.1	-	4	1587	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	ZNF329_ENST00000358067.4_Missense_Mutation_p.E452K	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TAGGGCTTCTCACCAGTATGA	0.502																																						uc002qrn.2		NA																	0				skin(1)	1						c.(1354-1356)GAG>AAG		zinc finger protein 329							75.0	70.0	71.0					19																	58639517		2203	4300	6503	SO:0001583	missense	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58639517C>T	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.1354G>A	19.37:g.58639517C>T	ENSP00000470008:p.Glu452Lys					ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	p.E452K	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	1591	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	452					B3KR32|Q9H9R7	Missense_Mutation	SNP	ENST00000598312.1	37	c.1354G>A	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562981	0.86335	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.24350	1.86;1.86	4.31	4.31	0.51392	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000712	T	0.41719	0.1171	L	0.35793	1.09	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.32666	-0.9898	10	0.72032	D	0.01	-18.4259	16.7502	0.85483	0.0:1.0:0.0:0.0	.	452	Q86UD4	ZN329_HUMAN	K	452	ENSP00000350773:E452K;ENSP00000439527:E452K	ENSP00000350773:E452K	E	-	1	0	ZNF329	63331329	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	4.619000	0.61218	2.691000	0.91804	0.655000	0.94253	GAG		0.502	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620		34	87	0	0	0	0	34	87				
PXDN	7837	broad.mit.edu	37	2	1647338	1647338	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:1647338C>G	ENST00000252804.4	-	19	3804	c.3754G>C	c.(3754-3756)Gag>Cag	p.E1252Q		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1252					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCAGGGTTCTCATACCACAAC	0.557																																						uc002qxa.2		NA																	0				pancreas(6)|ovary(2)	8						c.(3754-3756)GAG>CAG		peroxidasin precursor							45.0	49.0	48.0					2																	1647338		1972	4152	6124	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1647338C>G	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3754G>C	2.37:g.1647338C>G	ENSP00000252804:p.Glu1252Gln						p.E1252Q	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	19	3818	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1252					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.3754G>C	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194281	0.78902	.	.	ENSG00000130508	ENST00000252804	T	0.73258	-0.73	5.41	5.41	0.78517	.	0.316714	0.32819	N	0.005612	D	0.85444	0.5698	M	0.84219	2.685	0.80722	D	1	D	0.69078	0.997	D	0.68765	0.96	D	0.86960	0.2091	10	0.62326	D	0.03	-26.3757	19.2046	0.93724	0.0:1.0:0.0:0.0	.	1252	Q92626	PXDN_HUMAN	Q	1252	ENSP00000252804:E1252Q	ENSP00000252804:E1252Q	E	-	1	0	PXDN	1626345	1.000000	0.71417	0.412000	0.26496	0.508000	0.34012	7.703000	0.84585	2.525000	0.85131	0.563000	0.77884	GAG		0.557	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		29	74	0	0	0	0	29	74				
GRHL1	29841	broad.mit.edu	37	2	10098934	10098934	+	Missense_Mutation	SNP	C	C	T	rs369646093		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:10098934C>T	ENST00000324907.9	+	3	363	c.227C>T	c.(226-228)tCa>tTa	p.S76L	GRHL1_ENST00000324883.5_5'UTR|GRHL1_ENST00000405379.2_Missense_Mutation_p.S76L	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	76	Transcription activation.				cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		GAGAGAAGGTCATCAACAGCA	0.443																																						uc002raa.2		NA																	0				pancreas(1)|skin(1)	2						c.(226-228)TCA>TTA		grainyhead-like 1		C	LEU/SER	1,3939		0,1,1969	111.0	113.0	113.0		227	5.1	0.2	2		113	0,8318		0,0,4159	no	missense	GRHL1	NM_198182.2	145	0,1,6128	TT,TC,CC		0.0,0.0254,0.0082	benign	76/619	10098934	1,12257	1970	4159	6129	SO:0001583	missense	29841				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	g.chr2:10098934C>T	AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"""transcription factor CP2-like 2"""	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.227C>T	2.37:g.10098934C>T	ENSP00000324693:p.Ser76Leu					GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_5'UTR|GRHL1_uc010yjb.1_5'UTR|uc002rac.2_5'Flank	p.S76L	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)	3	398	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		76			Transcription activation.		A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Missense_Mutation	SNP	ENST00000324907.9	37	c.227C>T	CCDS33144.2	.	.	.	.	.	.	.	.	.	.	C	8.960	0.970256	0.18659	2.54E-4	0.0	ENSG00000134317	ENST00000405379;ENST00000324907	T;T	0.52057	0.68;0.68	6.11	5.06	0.68205	.	0.164452	0.56097	D	0.000037	T	0.21227	0.0511	N	0.02181	-0.65	0.39978	D	0.97487	B	0.02656	0.0	B	0.04013	0.001	T	0.17410	-1.0370	10	0.07175	T	0.84	-0.8498	16.3457	0.83132	0.0:0.9274:0.0:0.0726	.	76	Q9NZI5	GRHL1_HUMAN	L	76	ENSP00000384209:S76L;ENSP00000324693:S76L	ENSP00000324693:S76L	S	+	2	0	GRHL1	10016385	0.973000	0.33851	0.212000	0.23672	0.995000	0.86356	3.753000	0.55180	2.906000	0.99361	0.655000	0.94253	TCA		0.443	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552		15	46	0	0	0	0	15	46				
DDX1	1653	broad.mit.edu	37	2	15768620	15768620	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:15768620G>T	ENST00000381341.2	+	22	2127	c.1738G>T	c.(1738-1740)Gat>Tat	p.D580Y	DDX1_ENST00000233084.3_Missense_Mutation_p.D580Y			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	580	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Necessary for interaction with HNRNPK.|Necessary for interaction with replicase polyprotein 1ab nsp14 of IBV.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TAGAGGAATTGATATCCACGG	0.343																																						uc002rce.2		NA																	0				central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(1738-1740)GAT>TAT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 1							123.0	120.0	121.0					2																	15768620		2203	4300	6503	SO:0001583	missense	1653				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr2:15768620G>T	X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.1738G>T	2.37:g.15768620G>T	ENSP00000370745:p.Asp580Tyr					DDX1_uc010yjq.1_Missense_Mutation_p.D488Y	p.D580Y	NM_004939	NP_004930	Q92499	DDX1_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)	21	2026	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	580			Helicase C-terminal.|Necessary for interaction with replicase polyprotein 1ab nsp14 of IBV.|Necessary for interaction with HNRNPK.		B4DME8|B4DPN6	Missense_Mutation	SNP	ENST00000381341.2	37	c.1738G>T	CCDS1686.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195094	0.94960	.	.	ENSG00000079785	ENST00000381341;ENST00000233084;ENST00000543614	T;T	0.21734	1.99;1.99	6.02	6.02	0.97574	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.63908	0.2551	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74572	-0.3621	10	0.87932	D	0	-30.2262	20.5407	0.99260	0.0:0.0:1.0:0.0	.	580	Q92499	DDX1_HUMAN	Y	580;580;564	ENSP00000370745:D580Y;ENSP00000233084:D580Y	ENSP00000233084:D580Y	D	+	1	0	DDX1	15686071	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.794000	0.75135	2.865000	0.98341	0.655000	0.94253	GAT		0.343	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939		35	126	1	0	4.05e-12	4.27e-12	35	126				
GEN1	348654	broad.mit.edu	37	2	17947933	17947933	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:17947933C>T	ENST00000381254.2	+	5	827	c.613C>T	c.(613-615)Ctt>Ttt	p.L205F	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.L205F	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	205	I-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGCAATACTTCTTGGCTGTGA	0.338								Homologous recombination																														uc002rct.2		NA																	0				breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8						c.(613-615)CTT>TTT	Homologous_recombination	Gen homolog 1, endonuclease							180.0	162.0	168.0					2																	17947933		2203	4300	6503	SO:0001583	missense	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17947933C>T	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.613C>T	2.37:g.17947933C>T	ENSP00000370653:p.Leu205Phe					SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.L205F|GEN1_uc002rcu.2_Missense_Mutation_p.L205F	p.L205F	NM_182625	NP_872431	Q17RS7	GEN_HUMAN			5	686	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		205			I-domain.		Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	37	c.613C>T	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516003	0.85495	.	.	ENSG00000178295	ENST00000317402;ENST00000381254	T;T	0.72394	-0.65;-0.65	5.09	5.09	0.68999	-3&apos (1);Helix-hairpin-helix motif, class 2 (1);XPG/RAD2 endonuclease (1); exonuclease, C-terminal domain (1);5&apos (1);	0.000000	0.64402	D	0.000011	D	0.82884	0.5134	M	0.86502	2.82	0.53688	D	0.999972	P	0.50710	0.938	P	0.52909	0.713	D	0.86237	0.1641	10	0.72032	D	0.01	-11.2861	18.6895	0.91578	0.0:1.0:0.0:0.0	.	205	Q17RS7	GEN_HUMAN	F	205	ENSP00000318977:L205F;ENSP00000370653:L205F	ENSP00000318977:L205F	L	+	1	0	GEN1	17811414	1.000000	0.71417	0.952000	0.39060	0.977000	0.68977	6.835000	0.75344	2.661000	0.90470	0.655000	0.94253	CTT		0.338	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		23	95	0	0	0	0	23	95				
HS1BP3	64342	broad.mit.edu	37	2	20818831	20818831	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:20818831C>T	ENST00000304031.3	-	7	1120	c.1095G>A	c.(1093-1095)caG>caA	p.Q365Q		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	365							phosphatidylinositol binding (GO:0035091)			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCTTGGATCTGCTCCTGCG	0.622																																						uc002rdw.1		NA																	0				ovary(1)	1						c.(1093-1095)CAG>CAA		HCLS1 binding protein 3							123.0	128.0	126.0					2																	20818831		2203	4300	6503	SO:0001819	synonymous_variant	64342				cell communication		phosphatidylinositol binding	g.chr2:20818831C>T		CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.1095G>A	2.37:g.20818831C>T							p.Q365Q	NM_022460	NP_071905	Q53T59	H1BP3_HUMAN			7	1136	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		365					B2RAW2|D6W529|Q86VC2|Q8N367	Silent	SNP	ENST00000304031.3	37	c.1095G>A	CCDS1700.1																																																																																				0.622	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242863.1	NM_022460		22	85	0	0	0	0	22	85				
ITSN2	50618	broad.mit.edu	37	2	24440837	24440837	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:24440837C>G	ENST00000355123.4	-	31	4188	c.3745G>C	c.(3745-3747)Gag>Cag	p.E1249Q	ITSN2_ENST00000361999.3_Missense_Mutation_p.E1222Q|AC009228.1_ENST00000413254.1_RNA|AC009228.1_ENST00000430105.1_RNA|AC009228.1_ENST00000413989.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1249	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGGCCATCTCCCCTTCAGTG	0.463																																						uc002rfe.2		NA																	0				kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(3745-3747)GAG>CAG		intersectin 2 isoform 1							134.0	121.0	125.0					2																	24440837		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24440837C>G	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.3745G>C	2.37:g.24440837C>G	ENSP00000347244:p.Glu1249Gln					ITSN2_uc002rff.2_Missense_Mutation_p.E1222Q	p.E1249Q	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			31	4003	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1249			DH.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.3745G>C	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032743	0.75504	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868	T;T;T	0.66815	-0.23;-0.23;-0.23	5.85	5.85	0.93711	Dbl homology (DH) domain (5);	0.188134	0.24366	U	0.039153	T	0.73621	0.3610	L	0.45581	1.43	0.58432	D	0.999998	D;D	0.58620	0.978;0.983	P;P	0.54174	0.628;0.744	T	0.71560	-0.4556	10	0.46703	T	0.11	.	20.5471	0.99284	0.0:1.0:0.0:0.0	.	1222;1249	Q9NZM3-2;Q9NZM3	.;ITSN2_HUMAN	Q	1222;1249;1222	ENSP00000354561:E1222Q;ENSP00000347244:E1249Q;ENSP00000370250:E1222Q	ENSP00000347244:E1249Q	E	-	1	0	ITSN2	24294341	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	7.395000	0.79876	2.941000	0.99782	0.655000	0.94253	GAG		0.463	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		35	84	0	0	0	0	35	84				
NCOA1	8648	broad.mit.edu	37	2	24985573	24985573	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:24985573G>A	ENST00000406961.1	+	22	4735	c.4083G>A	c.(4081-4083)ctG>ctA	p.L1361L	NCOA1_ENST00000407230.1_Silent_p.L1210L|NCOA1_ENST00000395856.3_Silent_p.L1361L|NCOA1_ENST00000538539.1_Silent_p.L1361L|NCOA1_ENST00000288599.5_Silent_p.L1361L|NCOA1_ENST00000405141.1_Silent_p.L1361L|NCOA1_ENST00000348332.3_Silent_p.L1361L			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1361					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCCGCACTGAGACACACAG	0.398			T	PAX3	alveolar rhadomyosarcoma																																	uc002rfk.2		NA		Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(4081-4083)CTG>CTA		nuclear receptor coactivator 1 isoform 1							155.0	167.0	163.0					2																	24985573		2203	4300	6503	SO:0001819	synonymous_variant	8648							g.chr2:24985573G>A	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.4083G>A	2.37:g.24985573G>A						NCOA1_uc010eye.2_Silent_p.L1361L|NCOA1_uc002rfi.2_Silent_p.L1210L|NCOA1_uc002rfj.2_Silent_p.L1361L|NCOA1_uc002rfl.2_Silent_p.L1361L|NCOA1_uc010eyf.2_Intron	p.L1361L	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			20	4341	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1361					O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	37	c.4083G>A	CCDS1712.1																																																																																				0.398	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		19	358	0	0	0	0	19	358				
EMILIN1	11117	broad.mit.edu	37	2	27305913	27305913	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:27305913C>G	ENST00000380320.4	+	4	1973	c.1474C>G	c.(1474-1476)Caa>Gaa	p.Q492E		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	492					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGGACTCTCAAGTCAGCGA	0.692																																						uc002rii.3		NA																	0				pancreas(1)	1						c.(1474-1476)CAA>GAA		elastin microfibril interfacer 1 precursor							19.0	23.0	22.0					2																	27305913		2201	4299	6500	SO:0001583	missense	11117				cell adhesion	collagen		g.chr2:27305913C>G	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.1474C>G	2.37:g.27305913C>G	ENSP00000369677:p.Gln492Glu					EMILIN1_uc010eyq.1_Missense_Mutation_p.Q473E|EMILIN1_uc002rik.3_5'Flank	p.Q492E	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN			4	1902	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		492					A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	ENST00000380320.4	37	c.1474C>G	CCDS1733.1	.	.	.	.	.	.	.	.	.	.	C	6.505	0.461449	0.12342	.	.	ENSG00000138080	ENST00000380320	T	0.62498	0.02	5.28	3.43	0.39272	.	0.360538	0.29113	N	0.013102	T	0.41766	0.1173	N	0.24115	0.695	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.21827	-1.0234	10	0.02654	T	1	-4.3188	12.1597	0.54098	0.0:0.6699:0.3301:0.0	.	492	Q9Y6C2	EMIL1_HUMAN	E	492	ENSP00000369677:Q492E	ENSP00000369677:Q492E	Q	+	1	0	EMILIN1	27159417	0.002000	0.14202	0.788000	0.31933	0.770000	0.43624	0.571000	0.23669	0.591000	0.29711	0.561000	0.74099	CAA		0.692	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		5	16	0	0	0	0	5	16				
SLC30A3	7781	broad.mit.edu	37	2	27481696	27481696	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:27481696C>G	ENST00000233535.4	-	2	554	c.202G>C	c.(202-204)Gag>Cag	p.E68Q	SLC30A3_ENST00000447008.2_Missense_Mutation_p.E63Q	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	68					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCAGCCTCTCAGGGGTAAGG	0.622																																						uc002rjk.2		NA																	0					0						c.(202-204)GAG>CAG		solute carrier family 30 (zinc transporter),							45.0	50.0	49.0					2																	27481696		2203	4300	6503	SO:0001583	missense	7781				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	g.chr2:27481696C>G	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.202G>C	2.37:g.27481696C>G	ENSP00000233535:p.Glu68Gln					SLC30A3_uc002rjj.2_5'Flank|SLC30A3_uc010ylh.1_Missense_Mutation_p.E63Q	p.E68Q	NM_003459	NP_003450	Q99726	ZNT3_HUMAN			2	388	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		68			Cytoplasmic (Potential).		Q8TC03	Missense_Mutation	SNP	ENST00000233535.4	37	c.202G>C	CCDS1743.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.41|12.41	1.928787|1.928787	0.34002|0.34002	.|.	.|.	ENSG00000115194|ENSG00000115194	ENST00000233535;ENST00000447008;ENST00000432351;ENST00000426924;ENST00000424577;ENST00000450118;ENST00000426569|ENST00000445870	T;T;T;T;T;T|.	0.77877|.	-0.1;-0.1;-1.08;-1.1;-1.13;-1.07|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.102981|.	0.64402|.	D|.	0.000004|.	T|.	0.49898|.	0.1584|.	N|N	0.19112|0.19112	0.55|0.55	0.46749|0.46749	D|D	0.999188|0.999188	P;B|.	0.40794|.	0.729;0.23|.	B;B|.	0.36922|.	0.236;0.119|.	T|.	0.45041|.	-0.9288|.	10|.	0.46703|.	T|.	0.11|.	-19.8355|-19.8355	14.1027|14.1027	0.65068|0.65068	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	63;68|.	F5H3B7;Q99726|.	.;ZNT3_HUMAN|.	Q|S	68;63;19;55;46;19;19|56	ENSP00000233535:E68Q;ENSP00000415226:E63Q;ENSP00000414320:E19Q;ENSP00000393545:E55Q;ENSP00000403959:E46Q;ENSP00000403912:E19Q|.	ENSP00000233535:E68Q|.	E|X	-|-	1|2	0|2	SLC30A3|SLC30A3	27335200|27335200	1.000000|1.000000	0.71417|0.71417	0.940000|0.940000	0.37924|0.37924	0.141000|0.141000	0.21300|0.21300	5.812000|5.812000	0.69194|0.69194	2.379000|2.379000	0.81126|0.81126	0.561000|0.561000	0.74099|0.74099	GAG|TGA		0.622	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2			16	45	0	0	0	0	16	45				
KRTCAP3	200634	broad.mit.edu	37	2	27665754	27665754	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:27665754C>T	ENST00000543753.1	+	3	306	c.259C>T	c.(259-261)Ctt>Ttt	p.L87F	KRTCAP3_ENST00000288873.3_Missense_Mutation_p.L87F|KRTCAP3_ENST00000407293.1_Missense_Mutation_p.L69F	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	87						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					CAGGAACCTTCTTCGCCCTCC	0.592																																						uc002rks.2		NA																	0					0						c.(259-261)CTT>TTT		keratinocyte associated protein 3							41.0	45.0	44.0					2																	27665754		2203	4300	6503	SO:0001583	missense	200634					integral to membrane		g.chr2:27665754C>T	AY157576	CCDS1754.1	2p23.3	2008-02-05			ENSG00000157992	ENSG00000157992			28943	protein-coding gene	gene with protein product							Standard	NM_173853		Approved	KCP3	uc002rks.3	Q53RY4	OTTHUMG00000097782	ENST00000543753.1:c.259C>T	2.37:g.27665754C>T	ENSP00000442400:p.Leu87Phe					KRTCAP3_uc010ylr.1_Missense_Mutation_p.L87F|KRTCAP3_uc002rkt.2_Missense_Mutation_p.L69F	p.L87F	NM_173853	NP_776252	Q53RY4	KCP3_HUMAN			3	276	+	Acute lymphoblastic leukemia(172;0.155)		87					B7ZL49|Q6UW42|Q8IWS5	Missense_Mutation	SNP	ENST00000543753.1	37	c.259C>T	CCDS1754.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811274	0.32053	.	.	ENSG00000157992	ENST00000543753;ENST00000288873;ENST00000407293	T;T;T	0.44083	0.93;0.93;0.93	5.24	1.44	0.22558	.	0.632694	0.15790	N	0.244512	T	0.26231	0.0640	L	0.44542	1.39	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.18555	-1.0333	10	0.22706	T	0.39	-24.287	0.8026	0.01077	0.2378:0.3885:0.1311:0.2426	.	87	Q53RY4	KCP3_HUMAN	F	87;87;69	ENSP00000442400:L87F;ENSP00000288873:L87F;ENSP00000384689:L69F	ENSP00000288873:L87F	L	+	1	0	KRTCAP3	27519258	0.000000	0.05858	0.060000	0.19600	0.995000	0.86356	0.070000	0.14573	0.085000	0.17107	0.561000	0.74099	CTT		0.592	KRTCAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215025.1	NM_173853		32	47	0	0	0	0	32	47				
PLB1	151056	broad.mit.edu	37	2	28741373	28741373	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:28741373T>C	ENST00000327757.5	+	3	202	c.158T>C	c.(157-159)tTa>tCa	p.L53S	PLB1_ENST00000422425.2_Missense_Mutation_p.L53S	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	53	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCAAATAAATTAGGAGTGAAT	0.443																																						uc002rmb.1		NA																	0				ovary(4)|large_intestine(2)|skin(2)|breast(1)	9						c.(157-159)TTA>TCA		phospholipase B1 precursor							147.0	136.0	139.0					2																	28741373		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28741373T>C		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.158T>C	2.37:g.28741373T>C	ENSP00000330442:p.Leu53Ser					PLB1_uc010ezj.1_Missense_Mutation_p.L53S	p.L53S	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			3	158	+	Acute lymphoblastic leukemia(172;0.155)		53			4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.158T>C	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.167|7.167	0.586803|0.586803	0.13749|0.13749	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000327757;ENST00000422425|ENST00000404858	T;T|.	0.15139|.	2.53;2.45|.	5.53|5.53	-2.39|-2.39	0.06602|0.06602	.|.	2.438660|.	0.01525|.	N|.	0.018506|.	T|.	0.14141|.	0.0342|.	N|N	0.05199|0.05199	-0.095|-0.095	0.09310|0.09310	N|N	1|1	B;B|.	0.16603|.	0.018;0.006|.	B;B|.	0.14578|.	0.011;0.004|.	T|.	0.30851|.	-0.9964|.	10|.	0.22109|.	T|.	0.4|.	1.109|1.109	5.7875|5.7875	0.18340|0.18340	0.0:0.3659:0.1418:0.4924|0.0:0.3659:0.1418:0.4924	.|.	53;53|.	Q6P1J6-3;Q6P1J6|.	.;PLB1_HUMAN|.	S|Q	53|52	ENSP00000330442:L53S;ENSP00000416440:L53S|.	ENSP00000330442:L53S|.	L|X	+|+	2|1	0|0	PLB1|PLB1	28594877|28594877	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.326000|-0.326000	0.07965|0.07965	-0.076000|-0.076000	0.12775|0.12775	0.533000|0.533000	0.62120|0.62120	TTA|TAG		0.443	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			61	127	0	0	0	0	61	127				
RASGRP3	25780	broad.mit.edu	37	2	33752314	33752314	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:33752314G>A	ENST00000403687.3	+	10	1658	c.918G>A	c.(916-918)ttG>ttA	p.L306L	RASGRP3_ENST00000402538.3_Silent_p.L306L|RASGRP3_ENST00000407811.1_Silent_p.L306L	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	306	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GAGTACACTTGAAAGACTTGA	0.473																																						uc002rox.2		NA																	0				lung(3)|ovary(1)|pancreas(1)	5						c.(916-918)TTG>TTA		RAS guanyl releasing protein 3 (calcium and							85.0	81.0	82.0					2																	33752314		1898	4126	6024	SO:0001819	synonymous_variant	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33752314G>A	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.918G>A	2.37:g.33752314G>A						RASGRP3_uc010ync.1_Silent_p.L306L|RASGRP3_uc002roy.2_Silent_p.L306L	p.L306L	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN			11	1545	+	all_hematologic(175;0.115)		306			Ras-GEF.		D6W583|O94931|Q53SD7	Silent	SNP	ENST00000403687.3	37	c.918G>A	CCDS46256.1																																																																																				0.473	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		10	58	0	0	0	0	10	58				
FAM98A	25940	broad.mit.edu	37	2	33824236	33824236	+	Splice_Site	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:33824236C>G	ENST00000238823.8	-	1	193	c.53G>C	c.(52-54)gGt>gCt	p.G18A	FAM98A_ENST00000498340.1_5'UTR|FAM98A_ENST00000403368.1_Splice_Site_p.G18A|FAM98A_ENST00000441530.2_5'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	18							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					ACAATCTTACCCTAGATCTTC	0.597																																						uc002rpa.1		NA																	0				ovary(1)	1						c.(52-54)GGT>GCT		hypothetical protein LOC25940							167.0	164.0	165.0					2																	33824236		2203	4300	6503	SO:0001630	splice_region_variant	25940							g.chr2:33824236C>G		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.53+1G>C	2.37:g.33824236C>G						FAM98A_uc010yne.1_5'UTR	p.G18A	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN			1	127	-	all_hematologic(175;0.115)		18					B2RNA2|Q9Y3Y6	Missense_Mutation	SNP	ENST00000238823.8	37	c.53G>C	CCDS33179.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955171	0.73902	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000403368;ENST00000431950	T;T;T	0.53857	0.6;0.6;0.6	4.73	4.73	0.59995	.	0.056236	0.64402	D	0.000001	T	0.53351	0.1791	M	0.74467	2.265	0.80722	D	1	B	0.33807	0.426	B	0.29077	0.098	T	0.56456	-0.7976	9	.	.	.	-6.728	18.2584	0.90025	0.0:1.0:0.0:0.0	.	18	Q8NCA5-2	.	A	18	ENSP00000238823:G18A;ENSP00000384711:G18A;ENSP00000398490:G18A	.	G	-	2	0	FAM98A	33677740	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.829000	0.69316	2.616000	0.88540	0.555000	0.69702	GGT		0.597	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475	Missense_Mutation	5	258	0	0	0	0	5	258				
DHX57	90957	broad.mit.edu	37	2	39053158	39053158	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:39053158C>G	ENST00000295373.6	-	16	2971	c.2845G>C	c.(2845-2847)Gag>Cag	p.E949Q		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	949	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AAGGTGTCCTCTAGACTTTCC	0.408																																					Melanoma(191;1090 2095 4375 23729 47341)	uc002rrf.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(2845-2847)GAG>CAG		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							67.0	64.0	65.0					2																	39053158		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39053158C>G	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.2845G>C	2.37:g.39053158C>G	ENSP00000295373:p.Glu949Gln					DHX57_uc002rrd.3_Missense_Mutation_p.E333Q|DHX57_uc002rre.2_Missense_Mutation_p.E382Q	p.E949Q	NM_198963	NP_945314	Q6P158	DHX57_HUMAN			16	2944	-		all_hematologic(82;0.248)	949			Helicase C-terminal.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.2845G>C	CCDS1800.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.211825|4.211825	0.79240|0.79240	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000295373|ENST00000452978	T|.	0.02525|.	4.26|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Helicase, C-terminal (3);|.	0.000000|.	0.56097|.	D|.	0.000030|.	T|T	0.44932|0.44932	0.1317|0.1317	N|N	0.04387|0.04387	-0.21|-0.21	0.80722|0.80722	D|D	1|1	D;B|.	0.71674|.	0.998;0.392|.	D;B|.	0.72625|.	0.978;0.27|.	T|T	0.41875|0.41875	-0.9484|-0.9484	10|5	0.24483|.	T|.	0.36|.	.|.	19.7628|19.7628	0.96329|0.96329	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	949;341|.	Q6P158;Q59G60|.	DHX57_HUMAN;.|.	Q|T	949|272	ENSP00000295373:E949Q|.	ENSP00000295373:E949Q|.	E|R	-|-	1|2	0|0	DHX57|DHX57	38906662|38906662	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.187000|7.187000	0.77730|0.77730	2.672000|2.672000	0.90937|0.90937	0.555000|0.555000	0.69702|0.69702	GAG|AGA		0.408	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		21	77	0	0	0	0	21	77				
ZFP36L2	678	broad.mit.edu	37	2	43452225	43452225	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:43452225C>G	ENST00000282388.3	-	2	1011	c.718G>C	c.(718-720)Gat>Cat	p.D240H	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	240					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D240N(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				TGCAACGCATCGCGCGTGCCA	0.746																																						uc002rsv.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(718-720)GAT>CAT		zinc finger protein 36, C3H type-like 2							8.0	13.0	11.0					2																	43452225		2087	4165	6252	SO:0001583	missense	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452225C>G	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.718G>C	2.37:g.43452225C>G	ENSP00000282388:p.Asp240His					LOC100129726_uc010ynx.1_5'Flank	p.D240H	NM_006887	NP_008818	P47974	TISD_HUMAN			2	1009	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	240					Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000282388.3	37	c.718G>C	CCDS1811.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641583	0.29157	.	.	ENSG00000152518	ENST00000282388	T	0.48522	0.81	3.84	2.95	0.34219	.	0.483859	0.17871	N	0.159164	T	0.31040	0.0784	N	0.14661	0.345	0.80722	D	1	P	0.42357	0.777	B	0.40901	0.343	T	0.09885	-1.0654	10	0.56958	D	0.05	-17.6614	9.8893	0.41281	0.2048:0.7952:0.0:0.0	.	240	P47974	TISD_HUMAN	H	240	ENSP00000282388:D240H	ENSP00000282388:D240H	D	-	1	0	ZFP36L2	43305729	0.770000	0.28543	0.123000	0.21794	0.003000	0.03518	3.246000	0.51414	0.800000	0.34041	-0.314000	0.08810	GAT		0.746	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		6	16	0	0	0	0	6	16				
ABCG8	64241	broad.mit.edu	37	2	44079754	44079754	+	Missense_Mutation	SNP	C	C	A	rs55702734		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:44079754C>A	ENST00000272286.2	+	6	801	c.711C>A	c.(709-711)gaC>gaA	p.D237E		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	237	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TTATTCTCGACGAACCCACCT	0.612																																						uc002rtq.2		NA																	0				skin(3)|ovary(1)	4						c.(709-711)GAC>GAA		ATP-binding cassette sub-family G member 8							90.0	89.0	89.0					2																	44079754		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44079754C>A	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.711C>A	2.37:g.44079754C>A	ENSP00000272286:p.Asp237Glu					ABCG8_uc010yoa.1_Missense_Mutation_p.D237E	p.D237E	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN			6	801	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	237			ABC transporter.|Cytoplasmic (Potential).		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.711C>A	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174979	0.57692	.	.	ENSG00000143921	ENST00000272286	D	0.99688	-6.41	5.06	-6.6	0.01824	ABC transporter-like (2);	0.045023	0.85682	D	0.000000	D	0.99715	0.9890	H	0.97540	4.025	0.53688	D	0.999973	D;D	0.60575	0.985;0.988	P;D	0.64595	0.88;0.927	D	0.98507	1.0617	10	0.87932	D	0	.	16.1604	0.81700	0.0:0.2497:0.0:0.7503	.	237;237	Q9H221-2;Q9H221	.;ABCG8_HUMAN	E	237	ENSP00000272286:D237E	ENSP00000272286:D237E	D	+	3	2	ABCG8	43933258	0.231000	0.23751	0.700000	0.30305	0.769000	0.43574	-0.477000	0.06583	-1.473000	0.01881	-0.367000	0.07326	GAC		0.612	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		63	133	1	0	1.84e-34	1.99e-34	63	133				
LRPPRC	10128	broad.mit.edu	37	2	44161341	44161341	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:44161341C>T	ENST00000260665.7	-	25	2781	c.2724G>A	c.(2722-2724)aaG>aaA	p.K908K		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	908					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAATGATCTTCTTGGCCTCTT	0.338																																						uc002rtr.2		NA																	0				ovary(2)|skin(1)	3						c.(2722-2724)AAG>AAA		leucine-rich PPR motif-containing protein							86.0	82.0	84.0					2																	44161341		2203	4300	6503	SO:0001819	synonymous_variant	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44161341C>T	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2724G>A	2.37:g.44161341C>T						LRPPRC_uc010yob.1_Silent_p.K808K	p.K908K	NM_133259	NP_573566	P42704	LPPRC_HUMAN			25	2782	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	908					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Silent	SNP	ENST00000260665.7	37	c.2724G>A	CCDS33189.1																																																																																				0.338	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		12	62	0	0	0	0	12	62				
PREPL	9581	broad.mit.edu	37	2	44549940	44549940	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:44549940C>G	ENST00000409936.1	-	13	2387	c.1950G>C	c.(1948-1950)ctG>ctC	p.L650L	PREPL_ENST00000409272.1_Silent_p.L650L|PREPL_ENST00000541738.1_Silent_p.L561L|PREPL_ENST00000260648.6_Silent_p.L650L|PREPL_ENST00000378520.3_Silent_p.L584L|PREPL_ENST00000410081.1_Silent_p.L650L|PREPL_ENST00000378511.3_Silent_p.L588L|PREPL_ENST00000409411.1_Silent_p.L561L|PREPL_ENST00000409957.1_Silent_p.L561L	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	650						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAATTCCTTTCAGAGGTACCC	0.423																																						uc002ruf.2		NA																	0				ovary(1)	1						c.(1948-1950)CTG>CTC		prolyl endopeptidase-like isoform C							183.0	176.0	178.0					2																	44549940		2203	4300	6503	SO:0001819	synonymous_variant	9581				proteolysis	cytosol	serine-type endopeptidase activity	g.chr2:44549940C>G	AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.1950G>C	2.37:g.44549940C>G						PREPL_uc002rug.2_Silent_p.L584L|PREPL_uc002ruh.2_Silent_p.L588L|PREPL_uc010fax.2_Silent_p.L650L|PREPL_uc002rui.3_Silent_p.L561L|PREPL_uc002ruj.1_Silent_p.L561L|PREPL_uc002ruk.1_Silent_p.L650L	p.L650L	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN			12	1985	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	650					A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Silent	SNP	ENST00000409936.1	37	c.1950G>C	CCDS33190.1	.	.	.	.	.	.	.	.	.	.	C	9.473	1.096081	0.20552	.	.	ENSG00000138078	ENST00000420756	.	.	.	5.42	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.2013	9.3129	0.37917	0.0:0.793:0.0:0.207	.	.	.	.	S	32	.	.	X	-	2	2	PREPL	44403444	0.890000	0.30428	1.000000	0.80357	0.924000	0.55760	0.565000	0.23578	2.534000	0.85438	0.655000	0.94253	TGA		0.423	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327900.1	NM_006036		80	189	0	0	0	0	80	189				
SRBD1	55133	broad.mit.edu	37	2	45807146	45807146	+	Missense_Mutation	SNP	G	G	C	rs377126746		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:45807146G>C	ENST00000263736.4	-	7	1002	c.940C>G	c.(940-942)Cca>Gca	p.P314A		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	314					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GTTTTATATGGAGCAGACTAG	0.398																																						uc002rus.2		NA																	0				central_nervous_system(1)	1						c.(940-942)CCA>GCA		S1 RNA binding domain 1							82.0	80.0	81.0					2																	45807146		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45807146G>C	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.940C>G	2.37:g.45807146G>C	ENSP00000263736:p.Pro314Ala						p.P314A	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		7	1016	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	314					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.940C>G	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436602	0.62955	.	.	ENSG00000068784	ENST00000263736	T	0.68181	-0.31	4.67	4.67	0.58626	Tex-like protein, N-terminal (1);Tex-like protein, HTH domain (1);	0.000000	0.64402	D	0.000003	D	0.86489	0.5945	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90164	0.4230	10	0.87932	D	0	.	17.7192	0.88345	0.0:0.0:1.0:0.0	.	314	Q8N5C6	SRBD1_HUMAN	A	314	ENSP00000263736:P314A	ENSP00000263736:P314A	P	-	1	0	SRBD1	45660650	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.544000	0.82117	2.575000	0.86900	0.460000	0.39030	CCA		0.398	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		4	196	0	0	0	0	4	196				
PPP1R21	129285	broad.mit.edu	37	2	48698496	48698496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:48698496C>T	ENST00000294952.8	+	11	1235	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	PPP1R21_ENST00000281394.4_Nonsense_Mutation_p.Q360*|PPP1R21_ENST00000449090.2_Nonsense_Mutation_p.Q360*	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	360						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						TCTTCCCTATCAGTTAAAAAG	0.388																																						uc002rwm.2		NA																	0				ovary(1)	1						c.(1078-1080)CAG>TAG		KLRAQ motif containing 1 isoform 1							51.0	60.0	57.0					2																	48698496		2200	4299	6499	SO:0001587	stop_gained	129285							g.chr2:48698496C>T	AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.1078C>T	2.37:g.48698496C>T	ENSP00000294952:p.Gln360*					KLRAQ1_uc002rwi.1_Nonsense_Mutation_p.Q360*|KLRAQ1_uc002rwj.2_Nonsense_Mutation_p.Q360*|KLRAQ1_uc002rwl.2_Nonsense_Mutation_p.Q314*|KLRAQ1_uc002rwk.2_Nonsense_Mutation_p.Q360*|KLRAQ1_uc010yok.1_Nonsense_Mutation_p.Q360*	p.Q360*	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN			11	1263	+			360					B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Nonsense_Mutation	SNP	ENST00000294952.8	37	c.1078C>T	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	C	38	7.112983	0.98070	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.65	5.65	0.86999	.	0.054006	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-9.3186	20.0965	0.97849	0.0:1.0:0.0:0.0	.	.	.	.	X	360	.	ENSP00000281394:Q360X	Q	+	1	0	KLRAQ1	48552000	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.076000	0.76806	2.824000	0.97209	0.655000	0.94253	CAG		0.388	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		32	113	0	0	0	0	32	113				
STON1	11037	broad.mit.edu	37	2	48809196	48809196	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:48809196C>G	ENST00000406226.1	+	3	1619	c.1424C>G	c.(1423-1425)tCa>tGa	p.S475*	STON1_ENST00000404752.1_Nonsense_Mutation_p.S475*|STON1-GTF2A1L_ENST00000402114.2_Nonsense_Mutation_p.S475*|STON1_ENST00000309835.3_Nonsense_Mutation_p.S475*|STON1-GTF2A1L_ENST00000394754.1_Nonsense_Mutation_p.S475*|STON1-GTF2A1L_ENST00000405008.1_Nonsense_Mutation_p.S475*|STON1-GTF2A1L_ENST00000394751.3_Nonsense_Mutation_p.S475*|STON1-GTF2A1L_ENST00000309827.2_Nonsense_Mutation_p.S475*	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	475	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAGAAGGACTCAGAAAAAAAG	0.368																																						uc010yol.1		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(1423-1425)TCA>TGA		stonin 1							112.0	117.0	115.0					2																	48809196		2203	4300	6503	SO:0001587	stop_gained	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48809196C>G	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1424C>G	2.37:g.48809196C>G	ENSP00000384615:p.Ser475*					STON1_uc002rwo.3_Nonsense_Mutation_p.S475*|STON1_uc010fbm.2_Nonsense_Mutation_p.S475*|STON1-GTF2A1L_uc002rwp.1_Nonsense_Mutation_p.S475*|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Nonsense_Mutation_p.S475*	p.S475*	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1471	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	475					A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Nonsense_Mutation	SNP	ENST00000406226.1	37	c.1424C>G	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689152	0.88735	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	.	.	.	5.3	5.3	0.74995	.	0.962044	0.08764	N	0.897334	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	13.4054	0.60911	0.2722:0.7278:0.0:0.0	.	.	.	.	X	475	.	ENSP00000310969:S475X	S	+	2	0	STON1-GTF2A1L;STON1	48662700	0.000000	0.05858	0.904000	0.35570	0.022000	0.10575	0.133000	0.15912	2.769000	0.95229	0.655000	0.94253	TCA		0.368	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		41	142	0	0	0	0	41	142				
NRXN1	9378	broad.mit.edu	37	2	51254859	51254859	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:51254859G>C	ENST00000406316.2	-	2	2029	c.553C>G	c.(553-555)Cgt>Ggt	p.R185G	NRXN1_ENST00000406859.3_Missense_Mutation_p.R185G|NRXN1_ENST00000404971.1_Missense_Mutation_p.R185G|NRXN1_ENST00000405581.1_Missense_Mutation_p.R185G|NRXN1_ENST00000402717.3_Missense_Mutation_p.R185G|NRXN1_ENST00000401669.2_Missense_Mutation_p.R185G|NRXN1_ENST00000405472.3_Missense_Mutation_p.R185G	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	185	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTCACGTCACGAATCCACCCC	0.706																																						uc010fbq.2		NA																	0				ovary(2)	2						c.(553-555)CGT>GGT		neurexin 1 isoform alpha2 precursor							29.0	37.0	34.0					2																	51254859		2065	4191	6256	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:51254859G>C	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.553C>G	2.37:g.51254859G>C	ENSP00000384311:p.Arg185Gly					NRXN1_uc002rxe.3_Missense_Mutation_p.R185G|NRXN1_uc002rxd.1_Missense_Mutation_p.R185G	p.R185G	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	2030	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.553C>G	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148442	0.37923	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	T;T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	5.35	5.35	0.76521	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.162693	0.21400	U	0.075167	T	0.80259	0.4590	M	0.61703	1.905	0.25328	N	0.989055	B;B;B	0.25390	0.064;0.125;0.108	B;B;B	0.33521	0.165;0.106;0.031	T	0.74093	-0.3776	10	0.62326	D	0.03	.	12.2556	0.54621	0.0:0.0:0.7124:0.2876	.	185;185;185	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	G	185	ENSP00000385142:R185G;ENSP00000384311:R185G;ENSP00000434015:R185G;ENSP00000385017:R185G;ENSP00000385434:R185G;ENSP00000385681:R185G;ENSP00000385310:R185G	ENSP00000385017:R185G	R	-	1	0	NRXN1	51108363	1.000000	0.71417	0.774000	0.31636	0.903000	0.53119	3.741000	0.55090	2.504000	0.84457	0.563000	0.77884	CGT		0.706	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			3	10	0	0	0	0	3	10				
CCT7	10574	broad.mit.edu	37	2	73470151	73470151	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:73470151C>G	ENST00000258091.5	+	4	428	c.287C>G	c.(286-288)tCa>tGa	p.S96*	CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000537131.1_Intron|CCT7_ENST00000538797.1_5'UTR|CCT7_ENST00000540468.1_Nonsense_Mutation_p.S9*|CCT7_ENST00000539919.1_Nonsense_Mutation_p.S52*	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	96					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GGCACCACCTCAGTGACCTTG	0.502																																						uc002siz.2		NA																	0					0						c.(286-288)TCA>TGA		chaperonin containing TCP1, subunit 7 isoform a							75.0	73.0	74.0					2																	73470151		1936	4141	6077	SO:0001587	stop_gained	10574				'de novo' posttranslational protein folding		ATP binding|unfolded protein binding	g.chr2:73470151C>G	AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"""Heat Shock Proteins / Chaperonins"""	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.287C>G	2.37:g.73470151C>G	ENSP00000258091:p.Ser96*					CCT7_uc002sja.2_Intron|CCT7_uc010yrf.1_Nonsense_Mutation_p.S52*|CCT7_uc010feu.2_Intron|CCT7_uc010yrg.1_Intron|CCT7_uc010yrh.1_5'UTR|CCT7_uc010yri.1_Nonsense_Mutation_p.S9*	p.S96*	NM_006429	NP_006420	Q99832	TCPH_HUMAN			4	389	+			96					A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Nonsense_Mutation	SNP	ENST00000258091.5	37	c.287C>G	CCDS46336.1	.	.	.	.	.	.	.	.	.	.	C	35	5.522578	0.96431	.	.	ENSG00000135624	ENST00000540468;ENST00000539919;ENST00000258091;ENST00000399032	.	.	.	4.81	4.81	0.61882	.	0.122080	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.8629	15.7789	0.78243	0.0:1.0:0.0:0.0	.	.	.	.	X	9;52;96;52	.	ENSP00000258091:S96X	S	+	2	0	CCT7	73323659	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.580000	0.82523	2.668000	0.90789	0.462000	0.41574	TCA		0.502	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327714.2			24	74	0	0	0	0	24	74				
ALMS1	7840	broad.mit.edu	37	2	73651682	73651682	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:73651682C>T	ENST00000264448.6	+	5	1000	c.889C>T	c.(889-891)Cag>Tag	p.Q297*	ALMS1_ENST00000409009.1_Nonsense_Mutation_p.Q255*|ALMS1_ENST00000377715.1_Nonsense_Mutation_p.Q297*	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	297					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TAGTGTATCTCAGCACCCGCT	0.448																																						uc002sje.1		NA																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(892-894)CAG>TAG		Alstrom syndrome 1							80.0	77.0	78.0					2																	73651682		1893	4119	6012	SO:0001587	stop_gained	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73651682C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.889C>T	2.37:g.73651682C>T	ENSP00000264448:p.Gln297*					ALMS1_uc002sjf.1_Nonsense_Mutation_p.Q255*	p.Q298*	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			6	1003	+			297					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Nonsense_Mutation	SNP	ENST00000264448.6	37	c.892C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392015	0.83011	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	.	.	.	5.16	5.16	0.70880	.	0.170895	0.28327	N	0.015759	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.8678	0.70430	0.0:1.0:0.0:0.0	.	.	.	.	X	255;297;297	.	ENSP00000264448:Q297X	Q	+	1	0	ALMS1	73505190	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	2.088000	0.41663	2.792000	0.96026	0.557000	0.71058	CAG		0.448	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		17	46	0	0	0	0	17	46				
GPAT2	150763	broad.mit.edu	37	2	96690536	96690536	+	Silent	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:96690536G>T	ENST00000434632.1	-	15	1872	c.1413C>A	c.(1411-1413)ctC>ctA	p.L471L	GPAT2_ENST00000453542.1_Silent_p.L400L|GPAT2_ENST00000359548.4_Silent_p.L471L|GPAT2_ENST00000377137.3_Silent_p.L471L|FAHD2CP_ENST00000607780.1_RNA			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	471					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GATGCTTGAAGAGCAGCAGCG	0.657																																						uc002svf.2		NA																	0					0						c.(1411-1413)CTC>CTA		glycerol-3-phosphate acyltransferase 2,							121.0	130.0	127.0					2																	96690536		2049	4179	6228	SO:0001819	synonymous_variant	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96690536G>T	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1413C>A	2.37:g.96690536G>T						GPAT2_uc002svd.2_Silent_p.L284L|GPAT2_uc002sve.2_Silent_p.L273L|GPAT2_uc002svg.2_Silent_p.L344L|GPAT2_uc010yuh.1_Silent_p.L400L|GPAT2_uc002svh.2_Silent_p.L471L	p.L471L	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN			14	1636	-			471			Helical; (Potential).		Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Silent	SNP	ENST00000434632.1	37	c.1413C>A	CCDS42714.1																																																																																				0.657	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		81	246	1	0	5.01e-46	5.44e-46	81	246				
GPAT2	150763	broad.mit.edu	37	2	96690561	96690561	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:96690561G>T	ENST00000434632.1	-	15	1847	c.1388C>A	c.(1387-1389)aCg>aAg	p.T463K	GPAT2_ENST00000453542.1_Missense_Mutation_p.T392K|GPAT2_ENST00000359548.4_Missense_Mutation_p.T463K|GPAT2_ENST00000377137.3_Missense_Mutation_p.T463K|FAHD2CP_ENST00000607780.1_RNA			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	463					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CATAATGGCCGTGCTCATCAC	0.642																																						uc002svf.2		NA																	0					0						c.(1387-1389)ACG>AAG		glycerol-3-phosphate acyltransferase 2,							108.0	117.0	114.0					2																	96690561		2066	4186	6252	SO:0001583	missense	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96690561G>T	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1388C>A	2.37:g.96690561G>T	ENSP00000389395:p.Thr463Lys					GPAT2_uc002svd.2_Missense_Mutation_p.T276K|GPAT2_uc002sve.2_Missense_Mutation_p.T265K|GPAT2_uc002svg.2_Missense_Mutation_p.T336K|GPAT2_uc010yuh.1_Missense_Mutation_p.T392K|GPAT2_uc002svh.2_Missense_Mutation_p.T463K	p.T463K	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN			14	1611	-			463			Helical; (Potential).		Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	c.1388C>A	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	g	16.39	3.108722	0.56291	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542;ENST00000377137	D;D;D;D	0.86097	-2.02;-2.02;-1.66;-2.07	5.36	4.47	0.54385	.	0.267150	0.37136	N	0.002240	D	0.90154	0.6923	M	0.71036	2.16	0.42318	D	0.992248	D;D;D;D;D	0.89917	0.998;0.997;1.0;0.997;0.998	D;D;D;D;D	0.83275	0.994;0.95;0.996;0.95;0.986	D	0.90269	0.4306	10	0.72032	D	0.01	-19.0451	8.9946	0.36043	0.0984:0.0:0.9016:0.0	.	392;463;463;463;392	E9PE95;Q6NUI2-3;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;.;GPAT2_HUMAN;.	K	463;463;392;463	ENSP00000352547:T463K;ENSP00000389395:T463K;ENSP00000393770:T392K;ENSP00000366341:T463K	ENSP00000352547:T463K	T	-	2	0	GPAT2	96054288	0.998000	0.40836	0.998000	0.56505	0.469000	0.32828	3.377000	0.52425	2.525000	0.85131	0.637000	0.83480	ACG		0.642	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		63	209	1	0	1.72e-30	1.85e-30	63	209				
IL18RAP	8807	broad.mit.edu	37	2	103068542	103068542	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:103068542C>T	ENST00000264260.2	+	12	2290	c.1701C>T	c.(1699-1701)ttC>ttT	p.F567F	IL18RAP_ENST00000409369.1_Silent_p.F425F	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	567					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CTCAGGGATTCACGTGGAACC	0.478																																						uc002tbx.2		NA																	0				skin(3)|ovary(2)	5						c.(1699-1701)TTC>TTT		interleukin 18 receptor accessory protein							138.0	151.0	146.0					2																	103068542		2203	4300	6503	SO:0001819	synonymous_variant	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103068542C>T	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1701C>T	2.37:g.103068542C>T						IL18RAP_uc010fiz.2_Silent_p.F425F	p.F567F	NM_003853	NP_003844	O95256	I18RA_HUMAN			12	2185	+			567			Cytoplasmic (Potential).		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Silent	SNP	ENST00000264260.2	37	c.1701C>T	CCDS2061.1																																																																																				0.478	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		35	209	0	0	0	0	35	209				
MYO7B	4648	broad.mit.edu	37	2	128366312	128366312	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:128366312G>A	ENST00000409816.2	+	21	2705	c.2673G>A	c.(2671-2673)caG>caA	p.Q891Q	MYO7B_ENST00000428314.1_Silent_p.Q891Q|MYO7B_ENST00000389524.4_Silent_p.Q891Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	891						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCGAGGGGCAGAAAAGCCAAG	0.657																																						uc002top.2		NA																	0				ovary(1)|pancreas(1)	2						c.(2671-2673)CAG>CAA		myosin VIIB							33.0	39.0	37.0					2																	128366312		2057	4190	6247	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128366312G>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2673G>A	2.37:g.128366312G>A							p.Q891Q	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	22	2726	+	Colorectal(110;0.1)		891					Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.2673G>A	CCDS46405.1																																																																																				0.657	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		6	35	0	0	0	0	6	35				
POLR2D	5433	broad.mit.edu	37	2	128610608	128610608	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:128610608C>G	ENST00000272645.4	-	2	201	c.145G>C	c.(145-147)Gag>Cag	p.E49Q	POLR2D_ENST00000409955.1_Missense_Mutation_p.E49Q|POLR2D_ENST00000487079.1_Intron|POLR2D_ENST00000409698.1_Missense_Mutation_p.E11Q	NM_004805.3	NP_004796.1	O15514	RPB4_HUMAN	polymerase (RNA) II (DNA directed) polypeptide D	49					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus in response to heat stress (GO:0031990)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleotide-excision repair (GO:0006289)|positive regulation of translational initiation (GO:0045948)|positive regulation of viral transcription (GO:0050434)|recruitment of 3'-end processing factors to RNA polymerase II holoenzyme complex (GO:0034402)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)|nucleotide binding (GO:0000166)|translation initiation factor binding (GO:0031369)			large_intestine(1)|lung(4)|urinary_tract(1)	6	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0675)		TCTGCACTCTCATTCTGCTGC	0.418																																						uc002tpj.2		NA																	0					0						c.(145-147)GAG>CAG		DNA directed RNA polymerase II polypeptide D							163.0	154.0	157.0					2																	128610608		2203	4300	6503	SO:0001583	missense	5433				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|nucleotide binding	g.chr2:128610608C>G	U85510	CCDS2151.1	2q21	2013-01-21			ENSG00000144231	ENSG00000144231		"""RNA polymerase subunits"""	9191	protein-coding gene	gene with protein product	"""RNA polymerase II subunit hsRBP4"""	606017				9528765	Standard	NM_004805		Approved	RBP4	uc002tpj.3	O15514	OTTHUMG00000131531	ENST00000272645.4:c.145G>C	2.37:g.128610608C>G	ENSP00000272645:p.Glu49Gln					POLR2D_uc002tpk.2_Missense_Mutation_p.E49Q	p.E49Q	NM_004805	NP_004796	O15514	RPB4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0675)	2	200	-	Colorectal(110;0.1)		49					Q52LT4	Missense_Mutation	SNP	ENST00000272645.4	37	c.145G>C	CCDS2151.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605198	0.66445	.	.	ENSG00000144231	ENST00000272645;ENST00000409955;ENST00000409698	.	.	.	5.43	4.56	0.56223	HRDC-like (1);RNA polymerase II, Rpb4, core (1);	0.000000	0.85682	D	0.000000	T	0.77611	0.4156	M	0.76838	2.35	0.80722	D	1	D;P	0.76494	0.999;0.949	D;P	0.87578	0.998;0.581	T	0.76222	-0.3038	9	0.25751	T	0.34	-8.2274	14.403	0.67063	0.0:0.9285:0.0:0.0715	.	49;49	E9PHV4;O15514	.;RPB4_HUMAN	Q	49;49;11	.	ENSP00000272645:E49Q	E	-	1	0	POLR2D	128327078	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	7.786000	0.85741	1.293000	0.44690	-0.263000	0.10527	GAG		0.418	POLR2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254388.3	NM_004805		51	217	0	0	0	0	51	217				
NCKAP5	344148	broad.mit.edu	37	2	133541612	133541612	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:133541612C>T	ENST00000409261.1	-	14	3145	c.2772G>A	c.(2770-2772)gtG>gtA	p.V924V	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000317721.6_Silent_p.V924V	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	924										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AAGGGGATTTCACCCCTGCCT	0.622																																						uc002ttp.2		NA																	0					0						c.(2770-2772)GTG>GTA		Nck-associated protein 5 isoform 1							21.0	24.0	23.0					2																	133541612		1956	4140	6096	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133541612C>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.2772G>A	2.37:g.133541612C>T						NCKAP5_uc002ttq.2_Intron	p.V924V	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	3146	-			924					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.2772G>A	CCDS46418.1																																																																																				0.622	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		21	38	0	0	0	0	21	38				
NCKAP5	344148	broad.mit.edu	37	2	133542513	133542513	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:133542513C>G	ENST00000409261.1	-	14	2244	c.1871G>C	c.(1870-1872)gGa>gCa	p.G624A	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G624A	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	624										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TAGAGATTTTCCAAACCCCAC	0.473																																						uc002ttp.2		NA																	0					0						c.(1870-1872)GGA>GCA		Nck-associated protein 5 isoform 1							63.0	65.0	65.0					2																	133542513		1913	4118	6031	SO:0001583	missense	344148						protein binding	g.chr2:133542513C>G	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1871G>C	2.37:g.133542513C>G	ENSP00000387128:p.Gly624Ala					NCKAP5_uc002ttq.2_Intron	p.G624A	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	2245	-			624					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.1871G>C	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	c	0.200	-1.045689	0.01997	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.40476	1.03;1.03	5.64	2.89	0.33648	.	0.686466	0.11819	U	0.526365	T	0.27524	0.0676	L	0.27053	0.805	0.09310	N	1	B	0.32467	0.372	B	0.30855	0.121	T	0.14559	-1.0468	10	0.35671	T	0.21	.	6.9891	0.24745	0.0:0.6078:0.0:0.3922	.	624	O14513	NCKP5_HUMAN	A	624	ENSP00000387128:G624A;ENSP00000380603:G624A	ENSP00000380603:G624A	G	-	2	0	NCKAP5	133258983	0.134000	0.22483	0.001000	0.08648	0.127000	0.20565	1.624000	0.37018	0.482000	0.27582	0.651000	0.88453	GGA		0.473	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		18	76	0	0	0	0	18	76				
MAP3K19	80122	broad.mit.edu	37	2	135745719	135745719	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:135745719G>C	ENST00000375845.3	-	7	753	c.723C>G	c.(721-723)ctC>ctG	p.L241L	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.L258L|MAP3K19_ENST00000358371.4_Silent_p.L128L|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000315513.3_5'UTR	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	241							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CAAAAGATGTGAGACTTGGAA	0.473																																						uc002tue.1		NA																	0				stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(721-723)CTC>CTG		Yeast Sps1/Ste20-related kinase 4 isoform 1							96.0	107.0	103.0					2																	135745719		2203	4300	6503	SO:0001819	synonymous_variant	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135745719G>C	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.723C>G	2.37:g.135745719G>C						YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.L128L|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_5'UTR|YSK4_uc002tui.3_Silent_p.L258L	p.L241L	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	754	-			241					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	SNP	ENST00000375845.3	37	c.723C>G	CCDS2176.2																																																																																				0.473	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		34	168	0	0	0	0	34	168				
MCM6	4175	broad.mit.edu	37	2	136620310	136620310	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:136620310C>T	ENST00000264156.2	-	8	1147	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	363	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		CGTTTTACTTCATCATTGCCT	0.408																																					Ovarian(196;141 2104 8848 24991 25939)	uc002tuw.2		NA																	0					0						c.(1087-1089)GAA>AAA		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						90.0	86.0	87.0					2																	136620310		2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136620310C>T		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1087G>A	2.37:g.136620310C>T	ENSP00000264156:p.Glu363Lys						p.E363K	NM_005915	NP_005906	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	8	1163	-			363			MCM.		B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.1087G>A	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852171	0.71719	.	.	ENSG00000076003	ENST00000264156	T	0.06687	3.27	5.27	5.27	0.74061	.	0.048843	0.85682	D	0.000000	T	0.36026	0.0952	M	0.88310	2.945	0.80722	D	1	D	0.59357	0.985	D	0.67900	0.954	T	0.31668	-0.9935	10	0.52906	T	0.07	-17.0648	18.9065	0.92464	0.0:1.0:0.0:0.0	.	363	Q14566	MCM6_HUMAN	K	363	ENSP00000264156:E363K	ENSP00000264156:E363K	E	-	1	0	MCM6	136336780	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.382000	0.79729	2.436000	0.82500	0.655000	0.94253	GAA		0.408	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915		40	80	0	0	0	0	40	80				
NEB	4703	broad.mit.edu	37	2	152548584	152548584	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:152548584G>C	ENST00000172853.10	-	22	2242	c.2095C>G	c.(2095-2097)Caa>Gaa	p.Q699E	NEB_ENST00000603639.1_Missense_Mutation_p.Q699E|NEB_ENST00000397345.3_Missense_Mutation_p.Q699E|NEB_ENST00000604864.1_Missense_Mutation_p.Q699E|NEB_ENST00000427231.2_Missense_Mutation_p.Q699E|NEB_ENST00000409198.1_Missense_Mutation_p.Q699E			P20929	NEBU_HUMAN	nebulin	699					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCACTGTTTTGAGCTGCAACT	0.373																																						uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(2095-2097)CAA>GAA		nebulin isoform 3							176.0	165.0	168.0					2																	152548584		1978	4165	6143	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152548584G>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.2095C>G	2.37:g.152548584G>C	ENSP00000172853:p.Gln699Glu					NEB_uc010fny.1_Missense_Mutation_p.Q253E	p.Q699E	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	22	2286	-			699			Nebulin 16.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.2095C>G		.	.	.	.	.	.	.	.	.	.	G	12.49	1.953679	0.34471	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05513	3.43;3.45;3.45;3.43	6.01	6.01	0.97437	.	0.082270	0.50627	D	0.000115	T	0.08044	0.0201	L	0.44542	1.39	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.06770	-1.0808	10	0.72032	D	0.01	.	13.1979	0.59749	0.0:0.0:0.802:0.198	.	332;699	Q86TG3;P20929	.;NEBU_HUMAN	E	699	ENSP00000386259:Q699E;ENSP00000380505:Q699E;ENSP00000416578:Q699E;ENSP00000172853:Q699E	ENSP00000172853:Q699E	Q	-	1	0	NEB	152256830	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	2.015000	0.40961	2.855000	0.98099	0.585000	0.79938	CAA		0.373	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		49	170	0	0	0	0	49	170				
FMNL2	114793	broad.mit.edu	37	2	153415272	153415272	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:153415272G>C	ENST00000288670.9	+	5	745	c.378G>C	c.(376-378)ctG>ctC	p.L126L		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	126	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GAGAATTTCTGAATGAAGAAA	0.368																																						uc002tye.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(376-378)CTG>CTC		formin-like 2							101.0	98.0	99.0					2																	153415272		1843	4086	5929	SO:0001819	synonymous_variant	114793				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	g.chr2:153415272G>C	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.378G>C	2.37:g.153415272G>C							p.L126L	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN			5	745	+			126			GBD/FH3.		B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Silent	SNP	ENST00000288670.9	37	c.378G>C	CCDS46429.1																																																																																				0.368	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905		8	30	0	0	0	0	8	30				
GPD2	2820	broad.mit.edu	37	2	157425415	157425415	+	Missense_Mutation	SNP	C	C	G	rs371946081		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:157425415C>G	ENST00000310454.6	+	10	1616	c.1244C>G	c.(1243-1245)tCt>tGt	p.S415C	GPD2_ENST00000438166.2_Missense_Mutation_p.S415C|GPD2_ENST00000409674.1_Missense_Mutation_p.S415C|GPD2_ENST00000540309.1_Intron|GPD2_ENST00000409125.4_Missense_Mutation_p.S188C	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	415					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GATACTCAGTCTATCTCCCGA	0.413																																						uc002tzf.3		NA																	0				ovary(1)	1						c.(1243-1245)TCT>TGT		glycerol-3-phosphate dehydrogenase 2,		C	CYS/SER,CYS/SER	1,4405	2.1+/-5.4	0,1,2202	231.0	214.0	220.0		1244,1244	5.5	1.0	2		220	0,8600		0,0,4300	no	missense,missense	GPD2	NM_000408.4,NM_001083112.2	112,112	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	415/728,415/728	157425415	1,13005	2203	4300	6503	SO:0001583	missense	2820				cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity	g.chr2:157425415C>G		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.1244C>G	2.37:g.157425415C>G	ENSP00000308610:p.Ser415Cys					GPD2_uc010zch.1_Missense_Mutation_p.S188C|GPD2_uc002tzd.3_Missense_Mutation_p.S415C|GPD2_uc002tze.1_RNA	p.S415C	NM_001083112	NP_001076581	P43304	GPDM_HUMAN			10	1604	+			415					A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Missense_Mutation	SNP	ENST00000310454.6	37	c.1244C>G	CCDS2202.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969401	0.92855	2.27E-4	0.0	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000409674	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.46	5.46	0.80206	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.92980	0.7766	H	0.95151	3.63	0.80722	D	1	D	0.58268	0.982	D	0.68353	0.957	D	0.94690	0.7873	10	0.87932	D	0	.	19.3182	0.94224	0.0:1.0:0.0:0.0	.	415	P43304	GPDM_HUMAN	C	415;188;415;415	ENSP00000308610:S415C;ENSP00000386484:S188C;ENSP00000409708:S415C;ENSP00000386425:S415C	ENSP00000308610:S415C	S	+	2	0	GPD2	157133661	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.818000	0.86416	2.577000	0.86979	0.585000	0.79938	TCT		0.413	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3			61	241	0	0	0	0	61	241				
ACVR1C	130399	broad.mit.edu	37	2	158399269	158399269	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:158399269G>C	ENST00000243349.8	-	6	1409	c.1049C>G	c.(1048-1050)tCa>tGa	p.S350*	ACVR1C_ENST00000409680.3_Nonsense_Mutation_p.S300*|ACVR1C_ENST00000335450.7_Nonsense_Mutation_p.S270*|ACVR1C_ENST00000348328.5_Nonsense_Mutation_p.S193*	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GTTCAGTATTGAATCATGCTT	0.418																																						uc002tzk.3		NA																	0				lung(3)|ovary(2)|skin(2)	7						c.(1048-1050)TCA>TGA		activin A receptor, type IC isoform 1							236.0	217.0	224.0					2																	158399269		2203	4300	6503	SO:0001587	stop_gained	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158399269G>C	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.1049C>G	2.37:g.158399269G>C	ENSP00000243349:p.Ser350*					ACVR1C_uc002tzl.3_Nonsense_Mutation_p.S270*|ACVR1C_uc010fof.2_Nonsense_Mutation_p.S193*|ACVR1C_uc010foe.2_Nonsense_Mutation_p.S300*	p.S350*	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN			6	1292	-			350			Protein kinase.|Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000243349.8	37	c.1049C>G	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	G	37	6.477894	0.97598	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	.	.	.	5.77	5.77	0.91146	.	0.000000	0.44483	D	0.000453	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9422	0.97170	0.0:0.0:1.0:0.0	.	.	.	.	X	350;300;193;270	.	ENSP00000243349:S350X	S	-	2	0	ACVR1C	158107515	1.000000	0.71417	0.975000	0.42487	0.973000	0.67179	8.004000	0.88535	2.890000	0.99128	0.650000	0.86243	TCA		0.418	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		72	150	0	0	0	0	72	150				
BAZ2B	29994	broad.mit.edu	37	2	160295624	160295624	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:160295624C>G	ENST00000392783.2	-	7	1291	c.796G>C	c.(796-798)Gat>Cat	p.D266H	BAZ2B_ENST00000355831.2_Missense_Mutation_p.D266H|BAZ2B_ENST00000343439.5_Missense_Mutation_p.D264H|BAZ2B_ENST00000392782.1_Missense_Mutation_p.D264H	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	266					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						tctAGATCATCTGAATCACTG	0.373																																						uc002uao.2		NA																	0				ovary(3)|skin(1)	4						c.(796-798)GAT>CAT		bromodomain adjacent to zinc finger domain, 2B							308.0	274.0	285.0					2																	160295624		1932	4144	6076	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160295624C>G	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.796G>C	2.37:g.160295624C>G	ENSP00000376534:p.Asp266His					BAZ2B_uc002uap.2_Missense_Mutation_p.D264H|BAZ2B_uc002uas.1_Missense_Mutation_p.D203H|BAZ2B_uc002uau.1_Missense_Mutation_p.D264H|BAZ2B_uc002uaq.1_Missense_Mutation_p.D194H|BAZ2B_uc002uat.3_Missense_Mutation_p.D203H|BAZ2B_uc010fop.1_Missense_Mutation_p.D264H	p.D266H	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			7	1148	-			266					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.796G>C	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606636	0.66558	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	5.51	5.51	0.81932	.	0.000000	0.38164	U	0.001791	T	0.29355	0.0731	M	0.62723	1.935	0.58432	D	0.999994	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.982;0.982;0.96	T	0.00638	-1.1632	10	0.87932	D	0	-16.055	19.4202	0.94719	0.0:1.0:0.0:0.0	.	264;203;266;264;264;266	Q6MZK7;F5H6H2;Q9UIF8-3;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;.;BAZ2B_HUMAN	H	264;266;266;264;203	ENSP00000376533:D264H;ENSP00000376534:D266H;ENSP00000348087:D266H;ENSP00000339670:D264H	ENSP00000339670:D264H	D	-	1	0	BAZ2B	160003870	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.237000	0.78164	2.558000	0.86282	0.563000	0.77884	GAT		0.373	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			71	184	0	0	0	0	71	184				
BAZ2B	29994	broad.mit.edu	37	2	160295712	160295712	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:160295712C>G	ENST00000392783.2	-	7	1203	c.708G>C	c.(706-708)aaG>aaC	p.K236N	BAZ2B_ENST00000355831.2_Missense_Mutation_p.K236N|BAZ2B_ENST00000343439.5_Missense_Mutation_p.K234N|BAZ2B_ENST00000392782.1_Missense_Mutation_p.K234N	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	236	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CCATTGCTTTCTTCCTTGGTT	0.363																																						uc002uao.2		NA																	0				ovary(3)|skin(1)	4						c.(706-708)AAG>AAC		bromodomain adjacent to zinc finger domain, 2B							275.0	242.0	253.0					2																	160295712		1909	4120	6029	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160295712C>G	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.708G>C	2.37:g.160295712C>G	ENSP00000376534:p.Lys236Asn					BAZ2B_uc002uap.2_Missense_Mutation_p.K234N|BAZ2B_uc002uas.1_Missense_Mutation_p.K173N|BAZ2B_uc002uau.1_Missense_Mutation_p.K234N|BAZ2B_uc002uaq.1_Missense_Mutation_p.K164N|BAZ2B_uc002uat.3_Missense_Mutation_p.K173N|BAZ2B_uc010fop.1_Missense_Mutation_p.K234N	p.K236N	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			7	1060	-			236			Ser-rich.		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.708G>C	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079483	0.36662	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.08193	3.12;3.12;3.12;3.12	5.33	1.55	0.23275	.	0.000000	0.38663	U	0.001619	T	0.21227	0.0511	M	0.62723	1.935	0.40015	D	0.975335	D;D;D;D;D;D	0.89917	0.996;1.0;0.996;0.999;0.999;0.998	D;D;D;D;D;D	0.85130	0.99;0.997;0.99;0.996;0.996;0.991	T	0.00266	-1.1864	10	0.39692	T	0.17	-12.9675	9.8637	0.41129	0.0:0.6303:0.0:0.3697	.	234;173;236;234;234;236	Q6MZK7;F5H6H2;Q9UIF8-3;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;.;BAZ2B_HUMAN	N	234;236;236;234;173	ENSP00000376533:K234N;ENSP00000376534:K236N;ENSP00000348087:K236N;ENSP00000339670:K234N	ENSP00000339670:K234N	K	-	3	2	BAZ2B	160003958	1.000000	0.71417	0.988000	0.46212	0.856000	0.48823	1.700000	0.37815	-0.005000	0.14395	-0.253000	0.11424	AAG		0.363	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			71	162	0	0	0	0	71	162				
KCNH7	90134	broad.mit.edu	37	2	163393474	163393474	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:163393474C>G	ENST00000332142.5	-	3	523	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	KCNH7_ENST00000328032.4_Missense_Mutation_p.E142Q	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	142	PAC.				circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TTTACCCTCTCTGGGGTGGCA	0.378																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1		NA																	0		p.E142E(1)		ovary(3)|skin(2)	5						c.(424-426)GAG>CAG		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						210.0	196.0	201.0					2																	163393474		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163393474C>G	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.424G>C	2.37:g.163393474C>G	ENSP00000331727:p.Glu142Gln					KCNH7_uc002uci.2_Missense_Mutation_p.E142Q	p.E142Q	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			3	636	-			142			Cytoplasmic (Potential).|PAC.		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.424G>C	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	8.921	0.961169	0.18583	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99552	-5.01;-6.15	5.56	3.75	0.43078	.	0.048847	0.85682	N	0.000000	D	0.97977	0.9334	L	0.43152	1.355	0.46317	D	0.998982	P;B	0.37276	0.589;0.155	B;B	0.23419	0.037;0.046	D	0.96861	0.9632	10	0.30078	T	0.28	.	16.2196	0.82251	0.0:0.7487:0.2513:0.0	.	142;142	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	Q	142	ENSP00000331727:E142Q;ENSP00000333781:E142Q	ENSP00000333781:E142Q	E	-	1	0	KCNH7	163101720	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	3.837000	0.55820	0.701000	0.31803	-0.264000	0.10439	GAG		0.378	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		63	184	0	0	0	0	63	184				
FIGN	55137	broad.mit.edu	37	2	164466133	164466133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:164466133G>A	ENST00000333129.3	-	3	2523	c.2209C>T	c.(2209-2211)Cag>Tag	p.Q737*	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	737					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ATGCTAGGCTGAATCTTGCAG	0.413																																						uc002uck.1		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(2209-2211)CAG>TAG		fidgetin							64.0	63.0	64.0					2																	164466133		1892	4124	6016	SO:0001587	stop_gained	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164466133G>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.2209C>T	2.37:g.164466133G>A	ENSP00000333836:p.Gln737*						p.Q737*	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	2520	-			737					B3KWM0|Q9H6M5|Q9NVZ9	Nonsense_Mutation	SNP	ENST00000333129.3	37	c.2209C>T	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	39	7.657880	0.98415	.	.	ENSG00000182263	ENST00000333129	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-19.0592	20.5373	0.99239	0.0:0.0:1.0:0.0	.	.	.	.	X	737	.	ENSP00000333836:Q737X	Q	-	1	0	FIGN	164174379	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.863000	0.87023	2.857000	0.98124	0.650000	0.86243	CAG		0.413	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		27	113	0	0	0	0	27	113				
SCN1A	6323	broad.mit.edu	37	2	166848631	166848631	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:166848631G>C	ENST00000303395.4	-	26	5153	c.5154C>G	c.(5152-5154)ttC>ttG	p.F1718L	SCN1A_ENST00000375405.3_Missense_Mutation_p.F1707L|SCN1A_ENST00000409050.1_Missense_Mutation_p.F1690L|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.F1718L|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1718					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTGTAATTTGGAATAGGCAGA	0.468																																						uc010zcz.1		NA																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(5119-5121)TTC>TTG		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						215.0	212.0	213.0					2																	166848631		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848631G>C	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5154C>G	2.37:g.166848631G>C	ENSP00000303540:p.Phe1718Leu						p.F1707L	NM_006920	NP_008851	P35498	SCN1A_HUMAN			26	5139	-			1718			IV.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.5121C>G	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869556	0.72065	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.99136	-5.47;-5.47;-5.47;-5.47	5.8	4.92	0.64577	.	0.000000	0.64402	D	0.000003	D	0.99302	0.9756	M	0.90595	3.13	0.49798	D	0.999829	D	0.76494	0.999	D	0.83275	0.996	D	0.99191	1.0870	10	0.62326	D	0.03	.	11.5452	0.50690	0.1537:0.0:0.8463:0.0	.	1707	P35498-2	.	L	1718;1718;1707;1690	ENSP00000407030:F1718L;ENSP00000303540:F1718L;ENSP00000364554:F1707L;ENSP00000386312:F1690L	ENSP00000303540:F1718L	F	-	3	2	SCN1A	166556877	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.933000	0.40153	1.453000	0.47775	0.650000	0.86243	TTC		0.468	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		48	239	0	0	0	0	48	239				
XIRP2	129446	broad.mit.edu	37	2	168106418	168106418	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:168106418G>T	ENST00000409195.1	+	9	8605	c.8516G>T	c.(8515-8517)aGa>aTa	p.R2839I	XIRP2_ENST00000295237.9_Missense_Mutation_p.R2839I|XIRP2_ENST00000409273.1_Missense_Mutation_p.R2617I|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2664					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATAACTGAAAGAAAACACGAA	0.383																																						uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(8515-8517)AGA>ATA		xin actin-binding repeat containing 2 isoform 1							99.0	96.0	97.0					2																	168106418		1852	4100	5952	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106418G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8516G>T	2.37:g.168106418G>T	ENSP00000386840:p.Arg2839Ile					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R2664I|XIRP2_uc010fpq.2_Missense_Mutation_p.R2617I|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.R185I	p.R2839I	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	8534	+			2664					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.8516G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977814	0.53720	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02974	4.09;4.09;4.09	6.02	4.21	0.49690	.	0.504326	0.23167	N	0.051180	T	0.07324	0.0185	M	0.62723	1.935	0.20764	N	0.99985	P;P;P	0.49090	0.779;0.919;0.919	B;B;P	0.46718	0.246;0.428;0.525	T	0.07947	-1.0746	10	0.44086	T	0.13	-4.864	16.5372	0.84375	0.0:0.199:0.801:0.0	.	2664;2664;2617	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	I	2839;2839;2617;253	ENSP00000386840:R2839I;ENSP00000295237:R2839I;ENSP00000387255:R2617I	ENSP00000295237:R2839I	R	+	2	0	XIRP2	167814664	0.010000	0.17322	0.960000	0.40013	0.628000	0.37860	0.645000	0.24782	0.870000	0.35726	0.655000	0.94253	AGA		0.383	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		4	119	1	0	0.00909568	0.00920196	4	119				
LRP2	4036	broad.mit.edu	37	2	169989122	169989122	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:169989122C>G	ENST00000263816.3	-	77	13975	c.13690G>C	c.(13690-13692)Gag>Cag	p.E4564Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4564					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GGGTTTGTCTCTGGAACTATC	0.418																																						uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(13690-13692)GAG>CAG		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						139.0	134.0	135.0					2																	169989122		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:169989122C>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13690G>C	2.37:g.169989122C>G	ENSP00000263816:p.Glu4564Gln						p.E4564Q	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	77	13903	-			4564			Cytoplasmic (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.13690G>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401464	0.42613	.	.	ENSG00000081479	ENST00000263816	D	0.89875	-2.58	5.8	5.8	0.92144	.	0.766622	0.13340	N	0.395216	T	0.79569	0.4468	N	0.14661	0.345	0.80722	D	1	B	0.28324	0.207	B	0.18871	0.023	T	0.73496	-0.3964	10	0.15499	T	0.54	.	15.5511	0.76152	0.0:1.0:0.0:0.0	.	4564	P98164	LRP2_HUMAN	Q	4564	ENSP00000263816:E4564Q	ENSP00000263816:E4564Q	E	-	1	0	LRP2	169697368	0.830000	0.29337	0.985000	0.45067	0.909000	0.53808	1.073000	0.30691	2.740000	0.93945	0.650000	0.86243	GAG		0.418	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		4	240	0	0	0	0	4	240				
LRP2	4036	broad.mit.edu	37	2	170139405	170139405	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:170139405C>G	ENST00000263816.3	-	10	1434	c.1149G>C	c.(1147-1149)caG>caC	p.Q383H	LRP2_ENST00000443831.1_Missense_Mutation_p.Q383H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	383	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CTTTGCAATACTGTCCACGCT	0.448																																						uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(1147-1149)CAG>CAC		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						152.0	146.0	148.0					2																	170139405		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170139405C>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1149G>C	2.37:g.170139405C>G	ENSP00000263816:p.Gln383His					LRP2_uc010zdf.1_Missense_Mutation_p.Q383H	p.Q383H	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	10	1362	-			383			EGF-like 2.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.1149G>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	0.105	-1.146042	0.01714	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.87571	-2.27;-2.27	5.36	-1.03	0.10102	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.429308	0.23797	N	0.044472	T	0.58793	0.2147	N	0.01086	-1.025	0.09310	N	1	P;P	0.51240	0.943;0.883	B;B	0.44278	0.445;0.278	T	0.64571	-0.6376	9	.	.	.	.	0.9113	0.01295	0.3205:0.3097:0.1056:0.2641	.	383;383	E9PC35;P98164	.;LRP2_HUMAN	H	383	ENSP00000263816:Q383H;ENSP00000409813:Q383H	.	Q	-	3	2	LRP2	169847651	0.000000	0.05858	0.001000	0.08648	0.039000	0.13416	-2.389000	0.01058	-0.029000	0.13827	-0.181000	0.13052	CAG		0.448	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		52	197	0	0	0	0	52	197				
OLA1	29789	broad.mit.edu	37	2	175006586	175006586	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:175006586C>G	ENST00000409546.1	-	5	1206	c.576G>C	c.(574-576)gtG>gtC	p.V192V	OLA1_ENST00000428402.2_Silent_p.V172V|OLA1_ENST00000284719.3_Silent_p.V172V|OLA1_ENST00000344357.5_Silent_p.V14V					Obg-like ATPase 1											breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CTCCTCCTCTCACAGCCACCT	0.294																																						uc002uih.2		NA																	0				ovary(1)|breast(1)	2						c.(514-516)GTG>GTC		Obg-like ATPase 1 isoform 1							88.0	88.0	88.0					2																	175006586		2203	4299	6502	SO:0001819	synonymous_variant	29789				ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding	g.chr2:175006586C>G		CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"""GTP-binding protein 9 (putative)"""	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000409546.1:c.576G>C	2.37:g.175006586C>G						OLA1_uc002uii.2_Silent_p.V14V|OLA1_uc010fqq.2_Silent_p.V172V|OLA1_uc002uij.2_Silent_p.V14V|OLA1_uc002uik.2_Silent_p.V142V|OLA1_uc010fqr.2_Silent_p.V172V	p.V172V	NM_013341	NP_037473	Q9NTK5	OLA1_HUMAN			5	702	-			172						Silent	SNP	ENST00000409546.1	37	c.516G>C																																																																																					0.294	OLA1-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333877.1	NM_013341		29	135	0	0	0	0	29	135				
NFE2L2	4780	broad.mit.edu	37	2	178098944	178098944	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:178098944C>G	ENST00000397062.3	-	2	655	c.101G>C	c.(100-102)cGa>cCa	p.R34P	NFE2L2_ENST00000446151.2_Missense_Mutation_p.R18P|NFE2L2_ENST00000423513.1_Missense_Mutation_p.R18P|NFE2L2_ENST00000464747.1_Missense_Mutation_p.R18P|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R18P	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	34					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R34Q(10)|p.R34P(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAATACTTCTCGACTTACTCC	0.373			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3		NA		Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		12	Substitution - Missense(12)		lung(12)	central_nervous_system(1)	1						c.(100-102)CGA>CCA		nuclear factor erythroid 2-like 2 isoform 1							77.0	70.0	72.0					2																	178098944		1847	4100	5947	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098944C>G		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.101G>C	2.37:g.178098944C>G	ENSP00000380252:p.Arg34Pro	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.R18P|NFE2L2_uc010zfa.1_Missense_Mutation_p.R18P|NFE2L2_uc002uli.3_Missense_Mutation_p.R18P|NFE2L2_uc010fra.2_Missense_Mutation_p.R18P|NFE2L2_uc010frb.2_Missense_Mutation_p.R18P	p.R34P	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	656	-			34					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.101G>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176331	0.78564	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.60766	0.2294	M	0.80183	2.485	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;0.997;0.999;0.999	T	0.59096	-0.7518	10	0.44086	T	0.13	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	18;18;18;34	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	P	18;34;18;18;18;18;18	ENSP00000380253:R18P;ENSP00000380252:R34P;ENSP00000411575:R18P;ENSP00000391590:R18P;ENSP00000400073:R18P;ENSP00000412191:R18P;ENSP00000410015:R18P	ENSP00000380252:R34P	R	-	2	0	NFE2L2	177807190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	CGA		0.373	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		34	70	0	0	0	0	34	70				
TTC30A	92104	broad.mit.edu	37	2	178482760	178482760	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:178482760C>G	ENST00000355689.5	-	1	934	c.670G>C	c.(670-672)Gag>Cag	p.E224Q	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	224					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			ACACCTAGCTCAGGATGCTGG	0.522																																						uc002ulo.2		NA																	0					0						c.(670-672)GAG>CAG		tetratricopeptide repeat domain 30A							74.0	73.0	73.0					2																	178482760		2203	4300	6503	SO:0001583	missense	92104				cell projection organization	cilium	binding	g.chr2:178482760C>G	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.670G>C	2.37:g.178482760C>G	ENSP00000347915:p.Glu224Gln						p.E224Q	NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	935	-			224					A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	c.670G>C	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732907	0.48939	.	.	ENSG00000197557	ENST00000355689	T	0.27256	1.68	5.78	5.78	0.91487	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.42063	0.1186	M	0.88377	2.95	0.80722	D	1	B	0.11235	0.004	B	0.19946	0.027	T	0.40831	-0.9542	10	0.62326	D	0.03	.	18.2632	0.90043	0.0:1.0:0.0:0.0	.	224	Q86WT1	TT30A_HUMAN	Q	224	ENSP00000347915:E224Q	ENSP00000347915:E224Q	E	-	1	0	TTC30A	178191006	1.000000	0.71417	0.989000	0.46669	0.903000	0.53119	5.787000	0.69013	2.755000	0.94549	0.549000	0.68633	GAG		0.522	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		30	71	0	0	0	0	30	71				
RBM45	129831	broad.mit.edu	37	2	178977396	178977396	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:178977396G>C	ENST00000286070.5	+	1	215	c.123G>C	c.(121-123)ctG>ctC	p.L41L		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	41	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			AGTCGGTGCTGAGGGAGCGCT	0.627											OREG0015102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ulv.2		NA																	0					0						c.(121-123)CTG>CTC		RNA binding motif protein 45							81.0	74.0	76.0					2																	178977396		2203	4300	6503	SO:0001819	synonymous_variant	129831				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr2:178977396G>C	AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.123G>C	2.37:g.178977396G>C			OREG0015102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1950		p.L41L	NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)		1	215	+			41			RRM 1.		Q6NYL0|Q8NFC9	Silent	SNP	ENST00000286070.5	37	c.123G>C	CCDS33335.1																																																																																				0.627	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945		22	91	0	0	0	0	22	91				
OSBPL6	114880	broad.mit.edu	37	2	179201157	179201157	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:179201157G>A	ENST00000190611.4	+	9	1163	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	OSBPL6_ENST00000315022.2_Missense_Mutation_p.E242K|OSBPL6_ENST00000359685.3_Missense_Mutation_p.E263K|OSBPL6_ENST00000357080.4_Missense_Mutation_p.E263K|OSBPL6_ENST00000409045.3_Missense_Mutation_p.E263K|OSBPL6_ENST00000392505.2_Missense_Mutation_p.E263K|OSBPL6_ENST00000409631.1_Missense_Mutation_p.E263K	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	263					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CAGGTGTGCAGAAGGTTAGTT	0.493																																						uc002ulx.2		NA																	0				pancreas(1)	1						c.(787-789)GAA>AAA		oxysterol-binding protein-like protein 6 isoform							123.0	122.0	122.0					2																	179201157		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179201157G>A	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.787G>A	2.37:g.179201157G>A	ENSP00000190611:p.Glu263Lys					OSBPL6_uc002ulw.2_Missense_Mutation_p.E263K|OSBPL6_uc002uly.2_Missense_Mutation_p.E263K|OSBPL6_uc010zfe.1_Missense_Mutation_p.E263K|OSBPL6_uc002ulz.2_Missense_Mutation_p.E263K|OSBPL6_uc002uma.2_Missense_Mutation_p.E242K	p.E263K	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		9	1165	+			263					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.787G>A	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.773456	0.49786	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000361154;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.10860	2.87;2.87;2.83;2.85;2.86;2.87;2.86	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	N	0.13043	0.29	0.80722	D	1	B;P;D;D;D;P	0.76494	0.012;0.896;0.974;0.999;0.998;0.734	B;P;D;D;D;B	0.83275	0.018;0.796;0.953;0.996;0.986;0.391	T	0.02713	-1.1120	10	0.02654	T	1	-20.7007	19.9225	0.97093	0.0:0.0:1.0:0.0	.	263;242;263;263;263;263	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	K	263;263;48;263;263;263;263;242	ENSP00000376293:E263K;ENSP00000352713:E263K;ENSP00000349591:E263K;ENSP00000387248:E263K;ENSP00000190611:E263K;ENSP00000386885:E263K;ENSP00000318723:E242K	ENSP00000190611:E263K	E	+	1	0	OSBPL6	178909403	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.283000	0.78640	2.780000	0.95670	0.655000	0.94253	GAA		0.493	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		51	121	0	0	0	0	51	121				
TTN	7273	broad.mit.edu	37	2	179463706	179463706	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:179463706C>T	ENST00000591111.1	-	241	52032	c.51808G>A	c.(51808-51810)Gat>Aat	p.D17270N	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D10038N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D18911N|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D9846N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D9971N|TTN_ENST00000342992.6_Missense_Mutation_p.D16343N|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17270	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D9971N(1)|p.D16343N(1)|p.D10038N(1)|p.D16341N(1)|p.D9846N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGCCTCCATCATATTCTGGC	0.463																																						uc010zfg.1		NA																	5	Substitution - Missense(5)		endometrium(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(49027-49029)GAT>AAT		titin isoform N2-A							63.0	61.0	62.0					2																	179463706		1883	4113	5996	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179463706C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.51808G>A	2.37:g.179463706C>T	ENSP00000465570:p.Asp17270Asn					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D10038N|TTN_uc010zfi.1_Missense_Mutation_p.D9971N|TTN_uc010zfj.1_Missense_Mutation_p.D9846N	p.D16343N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		240	49251	-			17270					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.49027G>A		.	.	.	.	.	.	.	.	.	.	C	17.94	3.511259	0.64522	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.98	5.98	0.97165	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73094	0.3543	L	0.48362	1.52	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;0.999;0.999	T	0.73142	-0.4076	9	0.87932	D	0	.	20.4561	0.99145	0.0:1.0:0.0:0.0	.	9846;9971;10038;17270	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	16343;9846;10038;9971;9844	ENSP00000343764:D16343N;ENSP00000434586:D9846N;ENSP00000340554:D10038N;ENSP00000352154:D9971N	ENSP00000340554:D10038N	D	-	1	0	TTN	179171951	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.807000	0.86032	2.843000	0.97960	0.650000	0.86243	GAT		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	32	0	0	0	0	12	32				
TTN	7273	broad.mit.edu	37	2	179487426	179487426	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:179487426C>T	ENST00000591111.1	-	193	40185	c.39961G>A	c.(39961-39963)Gag>Aag	p.E13321K	TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E6089K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E14962K|TTN_ENST00000460472.2_Missense_Mutation_p.E5897K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E6022K|TTN_ENST00000342992.6_Missense_Mutation_p.E12394K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13321	Ig-like 89.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTCACACTCAAATCGAGCC	0.373																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(37180-37182)GAG>AAG		titin isoform N2-A							93.0	88.0	89.0					2																	179487426		1830	4079	5909	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179487426C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39961G>A	2.37:g.179487426C>T	ENSP00000465570:p.Glu13321Lys					TTN_uc010zfh.1_Missense_Mutation_p.E6089K|TTN_uc010zfi.1_Missense_Mutation_p.E6022K|TTN_uc010zfj.1_Missense_Mutation_p.E5897K	p.E12394K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		192	37404	-			13321					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.37180G>A		.	.	.	.	.	.	.	.	.	.	C	21.4	4.140521	0.77775	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.76	5.76	0.90799	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77798	0.4184	L	0.39633	1.23	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.78311	-0.2253	9	0.87932	D	0	.	19.9381	0.97149	0.0:1.0:0.0:0.0	.	5897;6022;6089;13321	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	12394;5897;6089;6022;5897	ENSP00000343764:E12394K;ENSP00000434586:E5897K;ENSP00000340554:E6089K;ENSP00000352154:E6022K	ENSP00000340554:E6089K	E	-	1	0	TTN	179195671	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.010000	0.76353	2.880000	0.98712	0.650000	0.86243	GAG		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	12	0	0	0	0	13	12				
TTN	7273	broad.mit.edu	37	2	179616570	179616570	+	Intron	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:179616570T>C	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Silent_p.E3519E			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAACAACCGGTTCACCCTCTA	0.373																																						uc002unb.2		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(10555-10557)GAA>GAG		titin isoform novex-3							84.0	90.0	88.0					2																	179616570		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179616570T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1280A>G	2.37:g.179616570T>C						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.E3519E	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	10781	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.10557A>G																																																																																					0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		48	174	0	0	0	0	48	174				
TTN	7273	broad.mit.edu	37	2	179639765	179639765	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:179639765C>G	ENST00000591111.1	-	29	6897	c.6673G>C	c.(6673-6675)Gac>Cac	p.D2225H	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D2179H|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D2225H|TTN_ENST00000460472.2_Missense_Mutation_p.D2179H|TTN_ENST00000359218.5_Missense_Mutation_p.D2179H|TTN_ENST00000342992.6_Missense_Mutation_p.D2225H|TTN_ENST00000360870.5_Missense_Mutation_p.D2225H|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12551	Ig-like 11.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTTCTGTCAGAGTGCATC	0.408																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(6673-6675)GAC>CAC		titin isoform N2-A							188.0	175.0	180.0					2																	179639765		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179639765C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6673G>C	2.37:g.179639765C>G	ENSP00000465570:p.Asp2225His					TTN_uc010zfh.1_Missense_Mutation_p.D2179H|TTN_uc010zfi.1_Missense_Mutation_p.D2179H|TTN_uc010zfj.1_Missense_Mutation_p.D2179H|TTN_uc002unb.2_Missense_Mutation_p.D2225H|uc002unc.1_5'Flank	p.D2225H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		29	6897	-			2225					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.6673G>C		.	.	.	.	.	.	.	.	.	.	C	15.58	2.874788	0.51695	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.42	5.42	0.78866	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85856	0.5794	M	0.90309	3.105	0.45634	D	0.998569	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.88560	0.3122	9	0.87932	D	0	.	19.2123	0.93760	0.0:1.0:0.0:0.0	.	2179;2179;2179;2225;2225	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	2225;2179;2179;2179;2179;2225	ENSP00000343764:D2225H;ENSP00000434586:D2179H;ENSP00000340554:D2179H;ENSP00000352154:D2179H;ENSP00000354117:D2225H	ENSP00000340554:D2179H	D	-	1	0	TTN	179348010	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.818000	0.86416	2.542000	0.85734	0.557000	0.71058	GAC		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		28	99	0	0	0	0	28	99				
TTN	7273	broad.mit.edu	37	2	179650577	179650577	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:179650577G>A	ENST00000591111.1	-	14	2592	c.2368C>T	c.(2368-2370)Cag>Tag	p.Q790*	TTN_ENST00000342175.6_Nonsense_Mutation_p.Q744*|TTN_ENST00000589042.1_Nonsense_Mutation_p.Q790*|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q744*|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q744*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q790*|TTN_ENST00000360870.5_Nonsense_Mutation_p.Q790*			Q8WZ42	TITIN_HUMAN	titin	33626					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGACTCACCTGTGATGATATG	0.438																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(2368-2370)CAG>TAG		titin isoform N2-A							117.0	104.0	108.0					2																	179650577		2203	4300	6503	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179650577G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2368C>T	2.37:g.179650577G>A	ENSP00000465570:p.Gln790*					TTN_uc010zfh.1_Nonsense_Mutation_p.Q744*|TTN_uc010zfi.1_Nonsense_Mutation_p.Q744*|TTN_uc010zfj.1_Nonsense_Mutation_p.Q744*|TTN_uc002unb.2_Nonsense_Mutation_p.Q790*|TTN_uc010frg.1_Nonsense_Mutation_p.Q372*	p.Q790*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		14	2592	-			790					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.2368C>T		.	.	.	.	.	.	.	.	.	.	G	39	7.785277	0.98489	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.3851	0.74691	0.0:0.1482:0.8518:0.0	.	.	.	.	X	790;744;744;744;744;790	.	ENSP00000340554:Q744X	Q	-	1	0	TTN	179358822	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.416000	0.73332	2.941000	0.99782	0.655000	0.94253	CAG		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		33	68	0	0	0	0	33	68				
COL3A1	1281	broad.mit.edu	37	2	189864098	189864098	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:189864098G>A	ENST00000304636.3	+	30	2280	c.2110G>A	c.(2110-2112)Gaa>Aaa	p.E704K	COL3A1_ENST00000317840.5_Missense_Mutation_p.E704K	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	704	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	CCCTGGTCCCGAAGGAGGAAA	0.483																																						uc002uqj.1		NA																	0				central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(2110-2112)GAA>AAA		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						40.0	41.0	40.0					2																	189864098		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189864098G>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2110G>A	2.37:g.189864098G>A	ENSP00000304408:p.Glu704Lys						p.E704K	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		30	2227	+			704			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.2110G>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925057	0.73213	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.93019	-2.59;-3.15	4.96	4.96	0.65561	.	0.153604	0.29814	N	0.011139	T	0.81884	0.4917	N	0.04768	-0.165	0.58432	D	0.999994	P	0.41710	0.76	B	0.24974	0.057	T	0.83136	-0.0111	10	0.16420	T	0.52	.	18.6093	0.91277	0.0:0.0:1.0:0.0	.	704	P02461	CO3A1_HUMAN	K	704	ENSP00000304408:E704K;ENSP00000315243:E704K	ENSP00000304408:E704K	E	+	1	0	COL3A1	189572343	1.000000	0.71417	0.743000	0.31040	0.938000	0.57974	9.414000	0.97362	2.472000	0.83506	0.650000	0.86243	GAA		0.483	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		10	35	0	0	0	0	10	35				
MSTN	2660	broad.mit.edu	37	2	190927053	190927053	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:190927053C>G	ENST00000260950.4	-	1	402	c.270G>C	c.(268-270)ctG>ctC	p.L90L	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	90					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)			ACTGATCAATCAGTTCCCGGA	0.438																																						uc002urp.2		NA																	0				lung(1)	1						c.(268-270)CTG>CTC		myostatin precursor							135.0	123.0	127.0					2																	190927053		2203	4300	6503	SO:0001819	synonymous_variant	2660				muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:190927053C>G	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.270G>C	2.37:g.190927053C>G							p.L90L	NM_005259	NP_005250	O14793	GDF8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)		1	403	-			90					A1C2J7|A1C2K0|Q6B0H2	Silent	SNP	ENST00000260950.4	37	c.270G>C	CCDS2303.1																																																																																				0.438	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259		11	126	0	0	0	0	11	126				
STAT4	6775	broad.mit.edu	37	2	191929550	191929550	+	Silent	SNP	G	G	A	rs138111228		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:191929550G>A	ENST00000392320.2	-	8	1079	c.765C>T	c.(763-765)ctC>ctT	p.L255L	STAT4_ENST00000358470.4_Silent_p.L255L	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	255					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GAAGCTGGTCGAGCCCATTGT	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		15629	0.001		0.0	False		,,,				2504	0.0					uc002usm.1		NA																	0				breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9						c.(763-765)CTC>CTT		signal transducer and activator of transcription							125.0	133.0	131.0					2																	191929550		2203	4300	6503	SO:0001819	synonymous_variant	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191929550G>A		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.765C>T	2.37:g.191929550G>A						STAT4_uc002usn.1_Silent_p.L255L|STAT4_uc010zgk.1_Silent_p.L100L|STAT4_uc002uso.2_Silent_p.L255L	p.L255L	NM_003151	NP_003142	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		8	1019	-			255					Q96NZ6	Silent	SNP	ENST00000392320.2	37	c.765C>T	CCDS2310.1																																																																																				0.502	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		73	262	0	0	0	0	73	262				
DNAH7	56171	broad.mit.edu	37	2	196661353	196661353	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:196661353G>A	ENST00000312428.6	-	56	10562	c.10462C>T	c.(10462-10464)Cag>Tag	p.Q3488*	DNAH7_ENST00000409063.1_5'Flank	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3488	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGACAATTCTGAAGAACAACC	0.418																																						uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(10462-10464)CAG>TAG		dynein, axonemal, heavy chain 7							99.0	97.0	98.0					2																	196661353		1903	4112	6015	SO:0001587	stop_gained	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196661353G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.10462C>T	2.37:g.196661353G>A	ENSP00000311273:p.Gln3488*					DNAH7_uc002uti.3_5'Flank	p.Q3488*	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			56	10563	-			3488			AAA 6 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	ENST00000312428.6	37	c.10462C>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	53	20.790803	0.99934	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9684	0.92706	0.0:0.0:1.0:0.0	.	.	.	.	X	3488	.	ENSP00000311273:Q3488X	Q	-	1	0	DNAH7	196369598	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.529000	0.98049	2.814000	0.96858	0.655000	0.94253	CAG		0.418	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		20	71	0	0	0	0	20	71				
CFLAR	8837	broad.mit.edu	37	2	202025277	202025277	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:202025277G>A	ENST00000309955.3	+	9	1431	c.916G>A	c.(916-918)Gac>Aac	p.D306N	CFLAR_ENST00000341582.6_Missense_Mutation_p.D271N|CFLAR_ENST00000340870.5_Missense_Mutation_p.D306N|CFLAR_ENST00000423241.2_Missense_Mutation_p.D306N|CFLAR_ENST00000479953.2_Missense_Mutation_p.D210N|CFLAR_ENST00000443227.1_Missense_Mutation_p.D210N|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000457277.1_Missense_Mutation_p.D306N|CFLAR-AS1_ENST00000415011.2_RNA	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	306	Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CCGAGACTACGACAGCTTTGT	0.527																																					Pancreas(16;548 657 22190 32864 42338)	uc002uxb.3		NA																	0					0						c.(916-918)GAC>AAC		CASP8 and FADD-like apoptosis regulator isoform							192.0	172.0	179.0					2																	202025277		2203	4300	6503	SO:0001583	missense	8837				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	g.chr2:202025277G>A	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"""Endogenous ligands"""	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.916G>A	2.37:g.202025277G>A	ENSP00000312455:p.Asp306Asn					CFLAR_uc010zhk.1_Missense_Mutation_p.D210N|CFLAR_uc002uxc.3_Missense_Mutation_p.D271N|CFLAR_uc010zhl.1_Missense_Mutation_p.D210N|CFLAR_uc010fsw.1_RNA|CFLAR_uc002uxd.3_Missense_Mutation_p.D306N|CFLAR_uc002uxf.2_Missense_Mutation_p.D306N|CFLAR_uc010fsy.2_Intron|CFLAR_uc010fsx.2_Intron|CFLAR_uc010zhm.1_Missense_Mutation_p.D210N|CFLAR_uc010fsz.2_Missense_Mutation_p.D61N|CFLAR_uc002uxg.2_Missense_Mutation_p.D61N|uc002uxh.1_5'Flank	p.D306N	NM_003879	NP_003870	O15519	CFLAR_HUMAN			9	1368	+			306			Interaction with caspase-3.|Interaction with TRAF1 and TRAF2.|Not proteolytically processed and involved in apoptosis inhibition.|Caspase.|Interaction with caspase-8 subunits p18 and p10.		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	ENST00000309955.3	37	c.916G>A	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.992701	0.74703	.	.	ENSG00000003402	ENST00000309955;ENST00000443227;ENST00000340870;ENST00000343375;ENST00000341582;ENST00000423241;ENST00000457277	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05	5.62	5.62	0.85841	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.115379	0.64402	D	0.000003	T	0.72170	0.3427	M	0.88450	2.955	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	T	0.76790	-0.2829	10	0.66056	D	0.02	-24.4545	19.6662	0.95894	0.0:0.0:1.0:0.0	.	210;306;271;306	O15519-3;O15519-11;O15519-8;O15519	.;.;.;CFLAR_HUMAN	N	306;210;306;192;271;306;306	ENSP00000312455:D306N;ENSP00000413270:D210N;ENSP00000339326:D306N;ENSP00000345807:D271N;ENSP00000399420:D306N;ENSP00000411535:D306N	ENSP00000312455:D306N	D	+	1	0	CFLAR	201733522	1.000000	0.71417	0.958000	0.39756	0.155000	0.21991	6.368000	0.73104	2.649000	0.89929	0.561000	0.74099	GAC		0.527	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		61	219	0	0	0	0	61	219				
CYP20A1	57404	broad.mit.edu	37	2	204143351	204143351	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:204143351G>T	ENST00000356079.4	+	7	858	c.735G>T	c.(733-735)agG>agT	p.R245S	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.R253S	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	245						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GAAAAGGAAGGAACTTCAGTC	0.318																																						uc002uzv.3		NA																	0					0						c.(733-735)AGG>AGT		cytochrome P450, family 20, subfamily A,							78.0	74.0	76.0					2																	204143351		2203	4300	6503	SO:0001583	missense	57404					integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:204143351G>T	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"""Cytochrome P450s"""	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.735G>T	2.37:g.204143351G>T	ENSP00000348380:p.Arg245Ser					CYP20A1_uc002uzx.3_Missense_Mutation_p.R143S|CYP20A1_uc010zif.1_Missense_Mutation_p.R253S|CYP20A1_uc002uzy.3_Missense_Mutation_p.R143S|CYP20A1_uc002uzw.3_RNA|CYP20A1_uc010ftw.2_5'UTR	p.R245S	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN			7	1357	+			245					Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Missense_Mutation	SNP	ENST00000356079.4	37	c.735G>T	CCDS2357.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.45|10.45	1.353779|1.353779	0.24512|0.24512	.|.	.|.	ENSG00000119004|ENSG00000119004	ENST00000421618|ENST00000356079;ENST00000429815	.|T;T	.|0.27890	.|1.64;1.64	5.42|5.42	-0.212|-0.212	0.13169|0.13169	.|.	.|0.619683	.|0.18453	.|N	.|0.140767	.|T	.|0.22282	.|0.0537	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	.|B;B	.|0.12630	.|0.003;0.006	.|B;B	.|0.15052	.|0.012;0.012	.|T	.|0.25293	.|-1.0136	.|10	0.07482|0.21014	T|T	0.82|0.42	-0.1845|-0.1845	10.6302|10.6302	0.45532|0.45532	0.468:0.0:0.532:0.0|0.468:0.0:0.532:0.0	.|.	.|253;245	.|E9PHG5;Q6UW02	.|.;CP20A_HUMAN	X|S	219|245;253	.|ENSP00000348380:R245S;ENSP00000407860:R253S	ENSP00000397114:E219X|ENSP00000348380:R245S	E|R	+|+	1|3	0|2	CYP20A1|CYP20A1	203851596|203851596	0.007000|0.007000	0.16637|0.16637	0.116000|0.116000	0.21606|0.21606	0.979000|0.979000	0.70002|0.70002	0.115000|0.115000	0.15540|0.15540	0.027000|0.027000	0.15297|0.15297	-0.140000|-0.140000	0.14226|0.14226	GAA|AGG		0.318	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674		6	41	1	0	1.64e-10	1.72e-10	6	41				
ADAM23	8745	broad.mit.edu	37	2	207413038	207413038	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:207413038C>T	ENST00000264377.3	+	8	1155	c.827C>T	c.(826-828)tCt>tTt	p.S276F	ADAM23_ENST00000374415.3_Missense_Mutation_p.S276F|ADAM23_ENST00000374416.1_Missense_Mutation_p.S276F	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	276					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CCCTTTCTCTCTGAATTACAG	0.388																																					Melanoma(194;1127 2130 19620 24042 27855)	uc002vbq.2		NA																	0				skin(2)|ovary(1)	3						c.(826-828)TCT>TTT		ADAM metallopeptidase domain 23 preproprotein							134.0	132.0	133.0					2																	207413038		2203	4300	6503	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207413038C>T	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.827C>T	2.37:g.207413038C>T	ENSP00000264377:p.Ser276Phe					ADAM23_uc010ziv.1_RNA	p.S276F	NM_003812	NP_003803	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	8	1050	+			276					A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.827C>T	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839069	0.32513	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.02067	4.47;4.47;4.48	4.92	4.92	0.64577	.	0.524577	0.15844	N	0.241889	T	0.02533	0.0077	N	0.19112	0.55	0.32216	N	0.575876	B	0.12630	0.006	B	0.23716	0.048	T	0.25502	-1.0130	10	0.39692	T	0.17	.	15.0457	0.71825	0.0:1.0:0.0:0.0	.	276	O75077	ADA23_HUMAN	F	276;276;170;276	ENSP00000264377:S276F;ENSP00000363537:S276F;ENSP00000363536:S276F	ENSP00000264377:S276F	S	+	2	0	ADAM23	207121283	0.986000	0.35501	0.532000	0.27989	0.576000	0.36127	4.300000	0.59079	2.251000	0.74343	0.563000	0.77884	TCT		0.388	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		32	86	0	0	0	0	32	86				
METTL21A	151194	broad.mit.edu	37	2	208477997	208477997	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:208477997C>T	ENST00000411432.1	-	4	646	c.430G>A	c.(430-432)Gat>Aat	p.D144N	METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000442521.1_Missense_Mutation_p.D144N|METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000426075.1_Missense_Mutation_p.D144N|METTL21A_ENST00000272839.3_Missense_Mutation_p.D162N|METTL21A_ENST00000477919.1_5'Flank|METTL21A_ENST00000448823.2_3'UTR|METTL21A_ENST00000406927.2_Missense_Mutation_p.D144N|METTL21A_ENST00000448007.2_Missense_Mutation_p.D144N	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	144					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						TATATGATATCAGCACCAAGT	0.393																																						uc002vcf.2		NA																	0					0						c.(430-432)GAT>AAT		hypothetical protein LOC151194							98.0	102.0	101.0					2																	208477997		2203	4300	6503	SO:0001583	missense	151194					integral to membrane	methyltransferase activity	g.chr2:208477997C>T	AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 557b"", ""heat shock protein 70kDa lysine (K) methyltransferase"""	615257	"""family with sequence similarity 119, member A"""	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.430G>A	2.37:g.208477997C>T	ENSP00000415115:p.Asp144Asn					FAM119A_uc002vce.2_Intron|FAM119A_uc010fuk.1_Missense_Mutation_p.D144N|FAM119A_uc002vcg.3_Missense_Mutation_p.D144N	p.D144N	NM_145280	NP_660323	Q8WXB1	MT21A_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0705)|Epithelial(149;0.131)|Lung(261;0.135)	4	590	-			144					Q53RV0|Q8N1Z9|Q96GH6	Missense_Mutation	SNP	ENST00000411432.1	37	c.430G>A	CCDS2376.1	.	.	.	.	.	.	.	.	.	.	C	34	5.388252	0.95988	.	.	ENSG00000144401	ENST00000411432;ENST00000448007;ENST00000272839;ENST00000406927;ENST00000426075;ENST00000442521	T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68	5.51	5.51	0.81932	.	0.042559	0.85682	D	0.000000	T	0.67757	0.2927	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78732	-0.2089	10	0.87932	D	0	-22.0203	19.614	0.95622	0.0:1.0:0.0:0.0	.	144	Q8WXB1	MT21A_HUMAN	N	144;144;162;144;144;144	ENSP00000415115:D144N;ENSP00000407622:D144N;ENSP00000272839:D162N;ENSP00000385481:D144N;ENSP00000403317:D144N;ENSP00000392062:D144N	ENSP00000272839:D162N	D	-	1	0	METTL21A	208186242	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.443000	0.80521	2.873000	0.98535	0.561000	0.74099	GAT		0.393	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337044.1	NM_145280		56	122	0	0	0	0	56	122				
CPS1	1373	broad.mit.edu	37	2	211518779	211518779	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:211518779G>C	ENST00000233072.5	+	29	3707	c.3511G>C	c.(3511-3513)Gaa>Caa	p.E1171Q	CPS1_ENST00000430249.2_Missense_Mutation_p.E1177Q|CPS1_ENST00000451903.2_Missense_Mutation_p.E720Q	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1171	ATP-grasp 2.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	AAAATTTGTTGAAGGGGCCCG	0.438																																						uc002vee.3		NA																	0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(3511-3513)GAA>CAA		carbamoyl-phosphate synthetase 1 isoform b							116.0	117.0	116.0					2																	211518779		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211518779G>C	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3511G>C	2.37:g.211518779G>C	ENSP00000233072:p.Glu1171Gln					CPS1_uc010fur.2_Missense_Mutation_p.E1177Q|CPS1_uc010fus.2_Missense_Mutation_p.E720Q	p.E1171Q	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	29	3643	+			1171			ATP-grasp 2.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.3511G>C	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.266449	0.23136	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97161	-4.27;-4.27;-4.27	5.77	5.77	0.91146	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.165254	0.56097	D	0.000037	D	0.94420	0.8205	L	0.39147	1.195	0.36445	D	0.865716	B;B	0.19445	0.036;0.036	B;B	0.23150	0.044;0.044	D	0.92332	0.5874	10	0.21540	T	0.41	-13.4445	15.7895	0.78343	0.0:0.1354:0.8646:0.0	.	1181;1171	Q59HF8;P31327	.;CPSM_HUMAN	Q	1177;1179;1171;720	ENSP00000402608:E1177Q;ENSP00000233072:E1171Q;ENSP00000406136:E720Q	ENSP00000233072:E1171Q	E	+	1	0	CPS1	211227024	0.997000	0.39634	0.979000	0.43373	0.676000	0.39594	2.944000	0.49034	2.890000	0.99128	0.650000	0.86243	GAA		0.438	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			21	99	0	0	0	0	21	99				
ERBB4	2066	broad.mit.edu	37	2	212530143	212530143	+	Silent	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:212530143T>C	ENST00000342788.4	-	15	2086	c.1776A>G	c.(1774-1776)aaA>aaG	p.K592K	ERBB4_ENST00000436443.1_Silent_p.K592K|ERBB4_ENST00000402597.1_Silent_p.K592K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	592	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CATCTGGACATTTTTCCACAC	0.433										TSP Lung(8;0.080)																												uc002veg.1		NA																	0				lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(1774-1776)AAA>AAG		v-erb-a erythroblastic leukemia viral oncogene							127.0	116.0	120.0					2																	212530143		2203	4300	6503	SO:0001819	synonymous_variant	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212530143T>C	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1776A>G	2.37:g.212530143T>C		TSP Lung(8;0.080)				ERBB4_uc002veh.1_Silent_p.K592K|ERBB4_uc010zji.1_Silent_p.K592K|ERBB4_uc010zjj.1_Silent_p.K592K|ERBB4_uc010fut.1_Silent_p.K592K	p.K592K	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	15	1874	-		Renal(323;0.06)|Lung NSC(271;0.197)	592			Extracellular (Potential).|Cys-rich.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	c.1776A>G	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.250992	0.22880	.	.	ENSG00000178568	ENST00000260943	.	.	.	4.94	0.392	0.16288	.	.	.	.	.	T	0.55705	0.1937	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47947	-0.9077	4	.	.	.	.	9.1606	0.37021	0.0:0.3401:0.0:0.6599	.	.	.	.	S	592	.	.	N	-	2	0	ERBB4	212238388	0.897000	0.30589	0.999000	0.59377	0.997000	0.91878	-0.041000	0.12084	0.031000	0.15407	0.533000	0.62120	AAT		0.433	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		28	85	0	0	0	0	28	85				
RNF25	64320	broad.mit.edu	37	2	219529908	219529908	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:219529908C>G	ENST00000295704.2	-	8	1076	c.636G>C	c.(634-636)ctG>ctC	p.L212L		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	212					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGCTGCTTTCAGTGAGGCAA	0.478																																						uc002vit.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(634-636)CTG>CTC		ring finger protein 25							96.0	90.0	92.0					2																	219529908		2203	4300	6503	SO:0001819	synonymous_variant	64320				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:219529908C>G		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.636G>C	2.37:g.219529908C>G						RNF25_uc010fvw.2_Silent_p.L100L	p.L212L	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	724	-		Renal(207;0.0474)	212					A8K0D6|Q53HQ5|Q9H874	Silent	SNP	ENST00000295704.2	37	c.636G>C	CCDS2420.1																																																																																				0.478	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		32	71	0	0	0	0	32	71				
RNF25	64320	broad.mit.edu	37	2	219538430	219538430	+	5'Flank	SNP	G	G	A	rs180843126		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:219538430G>A	ENST00000295704.2	-	0	0				STK36_ENST00000295709.3_Missense_Mutation_p.R56Q|STK36_ENST00000392105.3_Missense_Mutation_p.R56Q|STK36_ENST00000392106.2_Missense_Mutation_p.R56Q|STK36_ENST00000440309.1_Missense_Mutation_p.R56Q	NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25						positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAATAATGCGGGGTCTGCGG	0.498																																						uc002viu.2		NA																	0				ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11						c.(166-168)CGG>CAG		serine/threonine kinase 36							95.0	89.0	91.0					2																	219538430		2203	4300	6503	SO:0001631	upstream_gene_variant	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219538430G>A		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077		2.37:g.219538430G>A	Exception_encountered					STK36_uc002viv.2_Missense_Mutation_p.R56Q|RNF25_uc002vit.2_5'Flank|RNF25_uc010fvw.2_5'Flank	p.R56Q	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	3	433	+		Renal(207;0.0915)	56			Protein kinase.		A8K0D6|Q53HQ5|Q9H874	Missense_Mutation	SNP	ENST00000295704.2	37	c.167G>A	CCDS2420.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132388	0.77662	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000455724;ENST00000440309;ENST00000424080	T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.59	3.79	0.43588	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.40064	N	0.001189	T	0.49541	0.1563	L	0.35288	1.05	0.53688	D	0.999976	B;B	0.33135	0.177;0.399	B;B	0.31751	0.052;0.135	T	0.53662	-0.8407	10	0.56958	D	0.05	-16.1815	11.4211	0.49982	0.1442:0.0:0.8558:0.0	.	56;56	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	Q	56;56;56;2;56;56	ENSP00000295709:R56Q;ENSP00000375955:R56Q;ENSP00000375954:R56Q;ENSP00000400055:R2Q;ENSP00000394095:R56Q;ENSP00000403527:R56Q	ENSP00000295709:R56Q	R	+	2	0	STK36	219246674	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.567000	0.73983	1.379000	0.46325	0.563000	0.77884	CGG		0.498	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		14	61	0	0	0	0	14	61				
SPEG	10290	broad.mit.edu	37	2	220309772	220309772	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:220309772G>C	ENST00000312358.7	+	3	836	c.704G>C	c.(703-705)cGa>cCa	p.R235P	SPEG_ENST00000396698.1_Missense_Mutation_p.R131P|SPEG_ENST00000396695.2_Intron	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	235					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGGGCATCTCGAGCTAATCTG	0.701																																						uc010fwg.2		NA																	0				stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(703-705)CGA>CCA		SPEG complex locus							15.0	19.0	17.0					2																	220309772		2040	4164	6204	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220309772G>C	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.704G>C	2.37:g.220309772G>C	ENSP00000311684:p.Arg235Pro					SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_Intron|SPEG_uc002vln.1_5'UTR	p.R235P	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	3	704	+		Renal(207;0.0183)	235					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.704G>C	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692323	0.48202	.	.	ENSG00000072195	ENST00000312358;ENST00000265327;ENST00000396698	T;T	0.68903	-0.36;-0.21	4.86	4.86	0.63082	.	0.000000	0.31612	U	0.007345	T	0.67850	0.2937	N	0.14661	0.345	0.80722	D	1	D	0.71674	0.998	D	0.63381	0.914	T	0.72666	-0.4224	10	0.48119	T	0.1	.	17.9794	0.89136	0.0:0.0:1.0:0.0	.	235	Q15772	SPEG_HUMAN	P	235;235;131	ENSP00000311684:R235P;ENSP00000379926:R131P	ENSP00000265327:R235P	R	+	2	0	SPEG	220018016	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.740000	0.68629	2.227000	0.72691	0.442000	0.29010	CGA		0.701	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		4	8	0	0	0	0	4	8				
FARSB	10056	broad.mit.edu	37	2	223489148	223489148	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:223489148G>A	ENST00000281828.6	-	12	1276	c.1013C>T	c.(1012-1014)tCa>tTa	p.S338L	FARSB_ENST00000536361.1_Missense_Mutation_p.S239L	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	338	B5. {ECO:0000255|PROSITE- ProRule:PRU00816}.				gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TATGACTTCTGATTTTAAATA	0.353																																						uc002vne.1		NA																	0				ovary(1)	1						c.(1012-1014)TCA>TTA		phenylalanyl-tRNA synthetase, beta subunit	L-Phenylalanine(DB00120)						99.0	94.0	96.0					2																	223489148		2203	4300	6503	SO:0001583	missense	10056				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	g.chr2:223489148G>A	AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.1013C>T	2.37:g.223489148G>A	ENSP00000281828:p.Ser338Leu					FARSB_uc010zlq.1_Missense_Mutation_p.S358L|FARSB_uc002vnf.1_Missense_Mutation_p.S239L	p.S338L	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	12	1048	-		Renal(207;0.0183)	338			B5.		B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	ENST00000281828.6	37	c.1013C>T	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962547	0.92791	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	T;T	0.34072	1.38;1.38	5.69	5.69	0.88448	DNA binding domain, putative (1);tRNA synthetase, B5-domain (4);	0.000000	0.85682	D	0.000000	T	0.59810	0.2221	M	0.72576	2.205	0.80722	D	1	D;D	0.69078	0.997;0.995	P;P	0.62435	0.902;0.902	T	0.61589	-0.7032	10	0.72032	D	0.01	-10.3651	19.8273	0.96622	0.0:0.0:1.0:0.0	.	338;338	A8K666;Q9NSD9	.;SYFB_HUMAN	L	338;239	ENSP00000281828:S338L;ENSP00000442950:S239L	ENSP00000281828:S338L	S	-	2	0	FARSB	223197392	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.434000	0.97515	2.684000	0.91462	0.655000	0.94253	TCA		0.353	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687		19	84	0	0	0	0	19	84				
COL4A3	1285	broad.mit.edu	37	2	228128542	228128542	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:228128542G>C	ENST00000396578.3	+	21	1359	c.1197G>C	c.(1195-1197)ctG>ctC	p.L399L	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	399	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGCCAGGCCTGAAAGGAAGTA	0.517																																						uc002vom.1		NA																	0				skin(2)|ovary(1)	3						c.(1195-1197)CTG>CTC		alpha 3 type IV collagen isoform 1 precursor							29.0	33.0	32.0					2																	228128542		1841	4083	5924	SO:0001819	synonymous_variant	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228128542G>C		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.1197G>C	2.37:g.228128542G>C						COL4A3_uc002von.1_Silent_p.L399L|COL4A3_uc002voo.1_Silent_p.L399L|COL4A3_uc002vop.1_Silent_p.L399L|uc002voq.1_Intron|uc002vor.1_Intron	p.L399L	NM_000091	NP_000082	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	21	1359	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	399			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	ENST00000396578.3	37	c.1197G>C	CCDS42829.1																																																																																				0.517	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		9	44	0	0	0	0	9	44				
KCNJ13	3769	broad.mit.edu	37	2	233635840	233635840	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:233635840A>G	ENST00000233826.3	-	2	372	c.233T>C	c.(232-234)cTg>cCg	p.L78P	KCNJ13_ENST00000410029.1_Missense_Mutation_p.L78P|GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000373566.3_Intron|KCNJ13_ENST00000409779.1_Intron|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000409480.1_Intron	NM_002242.4	NP_002233.2	O60928	KCJ13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	78					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	inward rectifier potassium channel activity (GO:0005242)			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		CATCTCAGCCAGAACATACCA	0.468																																						uc002vto.2		NA																	0					0						c.(232-234)CTG>CCG		potassium inwardly-rectifying channel J13							198.0	187.0	191.0					2																	233635840		2203	4300	6503	SO:0001583	missense	3769					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr2:233635840A>G	AJ006128	CCDS2498.1, CCDS54437.1	2q37	2014-01-28			ENSG00000115474	ENSG00000115474		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6259	protein-coding gene	gene with protein product		603208				9878260, 9620703, 16382105	Standard	NM_002242		Approved	Kir7.1, Kir1.4, LCA16	uc002vtp.3	O60928	OTTHUMG00000153292	ENST00000233826.3:c.233T>C	2.37:g.233635840A>G	ENSP00000233826:p.Leu78Pro					GIGYF2_uc010zmj.1_Intron|GIGYF2_uc002vtg.2_Intron|GIGYF2_uc002vtj.3_Intron|GIGYF2_uc002vti.3_Intron|GIGYF2_uc002vtk.3_Intron|GIGYF2_uc002vth.3_Intron|GIGYF2_uc010zmk.1_Intron|GIGYF2_uc010zml.1_Intron|KCNJ13_uc002vtn.2_Intron|KCNJ13_uc002vtp.2_Missense_Mutation_p.L78P	p.L78P	NM_002242	NP_002233	O60928	IRK13_HUMAN		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)	1	276	-		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)	78			Helical; Name=M1; (By similarity).		A0PGH1|O76023|Q53SA1|Q8N3Y4	Missense_Mutation	SNP	ENST00000233826.3	37	c.233T>C	CCDS2498.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.207174	0.79127	.	.	ENSG00000115474	ENST00000233826;ENST00000410029	D;D	0.94537	-3.45;-3.45	5.54	5.54	0.83059	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.065973	0.64402	D	0.000006	D	0.96081	0.8723	M	0.62723	1.935	0.80722	D	1	P	0.42941	0.794	P	0.56398	0.797	D	0.96550	0.9407	10	0.87932	D	0	.	15.6731	0.77295	1.0:0.0:0.0:0.0	.	78	O60928	IRK13_HUMAN	P	78	ENSP00000233826:L78P;ENSP00000386251:L78P	ENSP00000233826:L78P	L	-	2	0	KCNJ13	233344084	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.300000	0.96151	2.096000	0.63516	0.533000	0.62120	CTG		0.468	KCNJ13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257036.1	NM_002242		20	73	0	0	0	0	20	73				
INPP5D	3635	broad.mit.edu	37	2	234094512	234094512	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:234094512G>C	ENST00000359570.5	+	23	2263	c.2263G>C	c.(2263-2265)Gaa>Caa	p.E755Q	INPP5D_ENST00000455936.2_Missense_Mutation_p.E519Q|INPP5D_ENST00000450745.1_Missense_Mutation_p.E519Q			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	767					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCAGGAAGGAGAAAATGAAGA	0.478																																					NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2299-2301)GAA>CAA		SH2 containing inositol phosphatase isoform a							80.0	84.0	83.0					2																	234094512		1900	4121	6021	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234094512G>C	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2263G>C	2.37:g.234094512G>C	ENSP00000352575:p.Glu755Gln					INPP5D_uc010zmp.1_Missense_Mutation_p.E766Q	p.E767Q	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	20	2452	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	767					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.2299G>C		.	.	.	.	.	.	.	.	.	.	G	24.6	4.552040	0.86127	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D	0.96745	-4.06;-4.1;-4.1;-4.11;-4.11;-4.11	5.34	5.34	0.76211	.	0.222920	0.46145	D	0.000303	D	0.97458	0.9168	.	.	.	0.44359	D	0.997259	D;D	0.63880	0.993;0.989	P;P	0.60117	0.869;0.744	D	0.96812	0.9597	9	0.35671	T	0.21	.	19.1318	0.93410	0.0:0.0:1.0:0.0	.	766;767	Q92835-2;Q92835	.;SHIP1_HUMAN	Q	755;519;519;388;388;388	ENSP00000352575:E755Q;ENSP00000407916:E519Q;ENSP00000404610:E519Q;ENSP00000400151:E388Q;ENSP00000397421:E388Q;ENSP00000405338:E388Q	ENSP00000352575:E755Q	E	+	1	0	INPP5D	233759251	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.778000	0.75043	2.510000	0.84645	0.650000	0.86243	GAA		0.478	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		9	25	0	0	0	0	9	25				
UGT1A7	54577	broad.mit.edu	37	2	234591192	234591192	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:234591192C>T	ENST00000373426.3	+	1	609	c.609C>T	c.(607-609)ttC>ttT	p.F203F	UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	203					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)			NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	CCATGACTTTCAAGGAGAGAG	0.428																																						uc002vut.2		NA																	0				ovary(1)	1						c.(607-609)TTC>TTT		UDP glycosyltransferase 1 family, polypeptide A7							169.0	178.0	175.0					2																	234591192		2203	4300	6503	SO:0001819	synonymous_variant	54577				drug metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	drug binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|retinoic acid binding	g.chr2:234591192C>T	U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"""UDP glucuronosyltransferases"""	12539	other	complex locus constituent		606432	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.609C>T	2.37:g.234591192C>T						UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Silent_p.F203F	p.F203F	NM_019077	NP_061950	Q9HAW7	UD17_HUMAN		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	1	609	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	203					B8K293|O00473	Silent	SNP	ENST00000373426.3	37	c.609C>T	CCDS2506.1	.	.	.	.	.	.	.	.	.	.	C	4.722	0.134323	0.09032	.	.	ENSG00000244122	ENST00000485022	.	.	.	4.3	1.23	0.21249	.	.	.	.	.	T	0.51702	0.1690	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40136	-0.9579	4	.	.	.	.	5.4341	0.16472	0.0:0.4041:0.0:0.5959	.	.	.	.	L	60	.	.	S	+	2	0	UGT1A7	234255931	0.000000	0.05858	0.216000	0.23742	0.088000	0.18126	-1.326000	0.02685	0.475000	0.27415	-0.350000	0.07774	TCA		0.428	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	NM_019077		105	251	0	0	0	0	105	251				
UGT1A1	54658	broad.mit.edu	37	2	234669410	234669410	+	Silent	SNP	C	C	T	rs199766420		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:234669410C>T	ENST00000608383.1	+	1	477	c.477C>T	c.(475-477)atC>atT	p.I159I	UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000360418.3_Silent_p.I159I|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000305208.5_Silent_p.I159I|UGT1A6_ENST00000406651.1_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	159					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	GCAGCCCCATCGTGGCCCAGT	0.557													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19233	0.0		0.0	False		,,,				2504	0.0					uc002vvb.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(475-477)ATC>ATT		UDP glycosyltransferase 1 family, polypeptide A1	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						156.0	142.0	147.0					2																	234669410		2203	4300	6503	SO:0001819	synonymous_variant	54658				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234669410C>T	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.477C>T	2.37:g.234669410C>T						UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Silent_p.I159I	p.I159I	NM_000463	NP_000454	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	1	492	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	159					A6NJC3|B8K286	Silent	SNP	ENST00000608383.1	37	c.477C>T	CCDS2510.1																																																																																				0.557	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	protein_coding				75	156	0	0	0	0	75	156				
AGAP1	116987	broad.mit.edu	37	2	236949416	236949416	+	Missense_Mutation	SNP	G	G	A	rs370536569		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:236949416G>A	ENST00000304032.8	+	15	2402	c.1822G>A	c.(1822-1824)Gag>Aag	p.E608K	AGAP1_ENST00000409538.1_Missense_Mutation_p.E820K|AGAP1_ENST00000336665.5_Missense_Mutation_p.E555K|AGAP1_ENST00000428334.2_Missense_Mutation_p.E447K	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	608					protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GAGCCAGAGCGAGGCCATGGC	0.602																																						uc002vvs.2		NA																	0				ovary(2)|skin(1)	3						c.(1822-1824)GAG>AAG		centaurin, gamma 2 isoform 1		G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	78.0	68.0	72.0		1822,1663	5.0	1.0	2		72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AGAP1	NM_001037131.2,NM_014914.4	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	608/858,555/805	236949416	1,13005	2203	4300	6503	SO:0001583	missense	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236949416G>A	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.1822G>A	2.37:g.236949416G>A	ENSP00000307634:p.Glu608Lys					AGAP1_uc002vvt.2_Missense_Mutation_p.E555K	p.E608K	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN			15	2417	+			608					B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.1822G>A	CCDS33408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.295844|4.295844	0.81025|0.81025	0.0|0.0	1.16E-4|1.16E-4	ENSG00000157985|ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334|ENST00000418654	T;T;T;T|.	0.71579|.	-0.56;-0.58;-0.52;0.51|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75635|0.75635	0.3876|0.3876	M|M	0.72118|0.72118	2.19|2.19	0.58432|0.58432	D|D	0.999999|0.999999	D;P|.	0.61697|.	0.99;0.768|.	P;B|.	0.50970|.	0.655;0.187|.	T|T	0.75207|0.75207	-0.3399|-0.3399	10|5	0.27082|.	T|.	0.32|.	.|.	18.7418|18.7418	0.91775|0.91775	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	555;608|.	Q9UPQ3-2;Q9UPQ3|.	.;AGAP1_HUMAN|.	K|Q	608;555;820;447|160	ENSP00000307634:E608K;ENSP00000338378:E555K;ENSP00000386897:E820K;ENSP00000411824:E447K|.	ENSP00000307634:E608K|.	E|R	+|+	1|2	0|0	AGAP1|AGAP1	236614155|236614155	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.996000|0.996000	0.88848|0.88848	7.866000|7.866000	0.87056|0.87056	2.519000|2.519000	0.84933|0.84933	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.602	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		15	58	0	0	0	0	15	58				
ASB1	51665	broad.mit.edu	37	2	239342304	239342304	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:239342304C>T	ENST00000264607.4	+	2	406	c.159C>T	c.(157-159)ctC>ctT	p.L53L	ASB1_ENST00000409297.1_Silent_p.L53L|ASB1_ENST00000469885.1_3'UTR	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	53					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		TCCAGACCCTCAGGAGCCTAT	0.607																																						uc002vyg.2		NA																	0					0						c.(157-159)CTC>CTT		ankyrin repeat and SOCS box-containing protein							58.0	55.0	56.0					2																	239342304		2203	4300	6503	SO:0001819	synonymous_variant	51665				intracellular signal transduction|negative regulation of cytokine biosynthetic process			g.chr2:239342304C>T	AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"""Ankyrin repeat domain containing"""	16011	protein-coding gene	gene with protein product		605758	"""ankyrin repeat and SOCS box-containing 1"""				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.159C>T	2.37:g.239342304C>T							p.L53L	NM_001040445	NP_001035535	Q9Y576	ASB1_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)	2	245	+		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	53			ANK 1.		A6NL50|Q4ZG29|Q9ULS4	Silent	SNP	ENST00000264607.4	37	c.159C>T	CCDS33416.1																																																																																				0.607	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1	NM_001040445		24	64	0	0	0	0	24	64				
CAPN10	11132	broad.mit.edu	37	2	241534074	241534074	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr2:241534074C>G	ENST00000391984.2	+	6	1141	c.945C>G	c.(943-945)ctC>ctG	p.L315L	CAPN10_ENST00000404753.3_Silent_p.L315L|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Silent_p.L315L|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000391982.2_Silent_p.L315L	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	315	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TTGACGAGCTCACCGTTGGCT	0.642																																						uc002vzk.1		NA																	0				ovary(3)|large_intestine(2)|lung(1)	6						c.(943-945)CTC>CTG		calpain 10 isoform a							103.0	95.0	98.0					2																	241534074		2203	4300	6503	SO:0001819	synonymous_variant	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241534074C>G	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.945C>G	2.37:g.241534074C>G						CAPN10_uc010zoh.1_Silent_p.L315L|CAPN10_uc002vzl.1_Silent_p.L315L|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Silent_p.L187L|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron	p.L315L	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	6	1129	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	315			Calpain catalytic.		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Silent	SNP	ENST00000391984.2	37	c.945C>G	CCDS42838.1																																																																																				0.642	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		20	115	0	0	0	0	20	115				
ZNF343	79175	broad.mit.edu	37	20	2464518	2464518	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:2464518G>A	ENST00000278772.4	-	6	1576	c.1089C>T	c.(1087-1089)agC>agT	p.S363S	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						ATGACTTCTCGCTAAAGCCTC	0.502																																						uc002wge.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1087-1089)AGC>AGT		zinc finger protein 343							104.0	84.0	91.0					20																	2464518		2203	4300	6503	SO:0001819	synonymous_variant	79175				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:2464518G>A	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1089C>T	20.37:g.2464518G>A						ZNF343_uc010gao.1_Silent_p.S363S|ZNF343_uc002wgd.1_Silent_p.S273S	p.S363S	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN			6	1577	-			363			C2H2-type 4.		Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Silent	SNP	ENST00000278772.4	37	c.1089C>T	CCDS13028.1																																																																																				0.502	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		14	62	0	0	0	0	14	62				
IDH3B	3420	broad.mit.edu	37	20	2640908	2640908	+	Splice_Site	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:2640908C>T	ENST00000380843.4	-	8	799		c.e8+1		IDH3B_ENST00000380851.5_Splice_Site|IDH3B_ENST00000488299.1_Splice_Site	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta						2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						GGAGGCCTCACCTGCATGCAG	0.517																																						uc002wgp.2		NA																	0					0						c.e8+1		isocitrate dehydrogenase 3, beta subunit isoform	NADH(DB00157)						87.0	79.0	82.0					20																	2640908		2203	4300	6503	SO:0001630	splice_region_variant	3420				isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr20:2640908C>T		CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.768+1G>A	20.37:g.2640908C>T						IDH3B_uc002wgq.2_Splice_Site_p.Q256_splice|IDH3B_uc002wgr.2_Splice_Site_p.Q104_splice	p.Q256_splice	NM_006899	NP_008830	O43837	IDH3B_HUMAN			8	777	-								B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Splice_Site	SNP	ENST00000380843.4	37	c.768_splice	CCDS13032.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688081	0.68271	.	.	ENSG00000101365	ENST00000380851;ENST00000380843;ENST00000435594	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0372	0.71757	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IDH3B	2588908	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.858000	0.69532	2.420000	0.82092	0.561000	0.74099	.		0.517	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077613.1		Intron	14	48	0	0	0	0	14	48				
FASTKD5	60493	broad.mit.edu	37	20	3128246	3128246	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:3128246C>T	ENST00000380266.3	-	2	1792	c.1471G>A	c.(1471-1473)Gat>Aat	p.D491N	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	491					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AGAGCGAAATCAATTAACTCT	0.468																																						uc002whz.2		NA																	0					0						c.(1471-1473)GAT>AAT		FAST kinase domains 5							66.0	66.0	66.0					20																	3128246		2203	4300	6503	SO:0001583	missense	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3128246C>T	BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1471G>A	20.37:g.3128246C>T	ENSP00000369618:p.Asp491Asn					uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron	p.D491N	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN			2	1782	-			491					Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	ENST00000380266.3	37	c.1471G>A	CCDS13048.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.385609	0.00202	.	.	ENSG00000215251	ENST00000380266	T	0.36878	1.23	5.27	0.574	0.17368	FAST kinase leucine-rich (1);	0.607030	0.17098	N	0.187089	T	0.14098	0.0341	N	0.04880	-0.145	0.09310	N	1	B	0.15141	0.012	B	0.17433	0.018	T	0.33420	-0.9869	10	0.06757	T	0.87	.	8.8767	0.35350	0.0:0.6571:0.0:0.3429	.	491	Q7L8L6	FAKD5_HUMAN	N	491	ENSP00000369618:D491N	ENSP00000369618:D491N	D	-	1	0	FASTKD5	3076246	0.001000	0.12720	0.025000	0.17156	0.108000	0.19459	0.069000	0.14552	-0.073000	0.12842	0.313000	0.20887	GAT		0.468	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		41	78	0	0	0	0	41	78				
ATRN	8455	broad.mit.edu	37	20	3581669	3581669	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:3581669C>G	ENST00000262919.5	+	23	3709	c.3641C>G	c.(3640-3642)tCa>tGa	p.S1214*	ATRN_ENST00000446916.2_Nonsense_Mutation_p.S1214*	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1214					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GCCAGTTTCTCAGGTAAAGAC	0.423																																						uc002wim.2		NA																	0				ovary(1)|breast(1)	2						c.(3640-3642)TCA>TGA		attractin isoform 1							68.0	64.0	65.0					20																	3581669		2203	4300	6503	SO:0001587	stop_gained	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3581669C>G	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.3641C>G	20.37:g.3581669C>G	ENSP00000262919:p.Ser1214*					ATRN_uc002wil.2_Nonsense_Mutation_p.S1214*	p.S1214*	NM_139321	NP_647537	O75882	ATRN_HUMAN			23	3731	+			1214			Extracellular (Potential).		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Nonsense_Mutation	SNP	ENST00000262919.5	37	c.3641C>G	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	C	42	9.679888	0.99237	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	.	.	.	6.03	6.03	0.97812	.	0.230857	0.45126	D	0.000384	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-1.8272	20.1617	0.98138	0.0:1.0:0.0:0.0	.	.	.	.	X	1214;1214;1140	.	ENSP00000262919:S1214X	S	+	2	0	ATRN	3529669	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.818000	0.86416	2.854000	0.98071	0.655000	0.94253	TCA		0.423	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		7	126	0	0	0	0	7	126				
LRRN4	164312	broad.mit.edu	37	20	6021786	6021786	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:6021786G>A	ENST00000378858.4	-	5	2329	c.2105C>T	c.(2104-2106)tCc>tTc	p.S702F		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	702					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GAGACATGCGGACAGCACCAC	0.687																																						uc002wmo.2		NA																	0				skin(3)	3						c.(2104-2106)TCC>TTC		leucine rich repeat neuronal 4 precursor							14.0	14.0	14.0					20																	6021786		2197	4293	6490	SO:0001583	missense	164312					integral to membrane		g.chr20:6021786G>A	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.2105C>T	20.37:g.6021786G>A	ENSP00000368135:p.Ser702Phe						p.S702F	NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN			5	2329	-			702			Cytoplasmic (Potential).		A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	37	c.2105C>T	CCDS13097.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805239	0.90623	.	.	ENSG00000125872	ENST00000378858	T	0.59906	0.23	5.54	4.58	0.56647	.	0.396878	0.25628	N	0.029366	T	0.66597	0.2805	L	0.42245	1.32	0.23731	N	0.997	D	0.76494	0.999	P	0.60789	0.879	T	0.62821	-0.6773	10	0.87932	D	0	-13.0771	15.6898	0.77442	0.0:0.0:0.8619:0.1381	.	702	Q8WUT4	LRRN4_HUMAN	F	702	ENSP00000368135:S702F	ENSP00000368135:S702F	S	-	2	0	LRRN4	5969786	0.996000	0.38824	0.025000	0.17156	0.693000	0.40251	5.795000	0.69074	1.312000	0.45043	0.655000	0.94253	TCC		0.687	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		9	16	0	0	0	0	9	16				
JAG1	182	broad.mit.edu	37	20	10653358	10653358	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:10653358G>A	ENST00000254958.5	-	2	893	c.378C>T	c.(376-378)ttC>ttT	p.F126F	RP11-103J8.1_ENST00000605292.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	126					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CCGGCCAGGCGAAACTGAAAG	0.652									Alagille Syndrome																													uc002wnw.2		NA																	0				lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9	GRCh37	CD030141	JAG1	D		c.(376-378)TTC>TTT		jagged 1 precursor							37.0	33.0	35.0					20																	10653358		2201	4300	6501	SO:0001819	synonymous_variant	182	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10653358G>A	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.378C>T	20.37:g.10653358G>A							p.F126F	NM_000214	NP_000205	P78504	JAG1_HUMAN			2	894	-			126			Extracellular (Potential).		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	c.378C>T	CCDS13112.1																																																																																				0.652	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		23	49	0	0	0	0	23	49				
CSRP2BP	57325	broad.mit.edu	37	20	18162426	18162426	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:18162426G>C	ENST00000435364.3	+	7	2085	c.1744G>C	c.(1744-1746)Gat>Cat	p.D582H	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.D454H|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.D581H	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	582					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						AGGATCAGAAGATATGGCTGT	0.443																																						uc002wqj.2		NA																	0				lung(3)|ovary(2)|skin(1)	6						c.(1744-1746)GAT>CAT		CSRP2 binding protein							147.0	139.0	142.0					20																	18162426		2203	4300	6503	SO:0001583	missense	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18162426G>C	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.1744G>C	20.37:g.18162426G>C	ENSP00000392318:p.Asp582His					CSRP2BP_uc002wqk.2_Missense_Mutation_p.D454H|CSRP2BP_uc010zru.1_Missense_Mutation_p.D453H	p.D582H	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN			8	2366	+			582					A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	c.1744G>C	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258907	0.80246	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.15017	2.46;2.46;2.46;2.47	5.49	5.49	0.81192	.	0.147583	0.64402	D	0.000017	T	0.33089	0.0851	L	0.44542	1.39	0.58432	D	0.999997	D;D	0.63880	0.989;0.993	P;P	0.58928	0.804;0.848	T	0.01961	-1.1239	10	0.87932	D	0	-21.8175	19.3627	0.94446	0.0:0.0:1.0:0.0	.	454;582	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	H	582;581;582;454	ENSP00000278816:D582H;ENSP00000366909:D581H;ENSP00000392318:D582H;ENSP00000425909:D454H	ENSP00000278816:D582H	D	+	1	0	CSRP2BP	18110426	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.755000	0.68750	2.583000	0.87209	0.563000	0.77884	GAT		0.443	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		57	117	0	0	0	0	57	117				
ZHX3	23051	broad.mit.edu	37	20	39832032	39832032	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:39832032G>C	ENST00000309060.3	-	4	1940	c.1525C>G	c.(1525-1527)Ctg>Gtg	p.L509V	ZHX3_ENST00000432768.2_Missense_Mutation_p.L509V|ZHX3_ENST00000559234.1_Missense_Mutation_p.L509V|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.L509V|ZHX3_ENST00000560361.1_Missense_Mutation_p.L509V|ZHX3_ENST00000540170.1_Missense_Mutation_p.L509V			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	509	Required for nuclear localization.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CTCCCTTTCAGAGCTGACAGC	0.527																																						uc002xjs.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1525-1527)CTG>GTG		zinc fingers and homeoboxes 3							56.0	57.0	57.0					20																	39832032		2203	4300	6503	SO:0001583	missense	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39832032G>C	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1525C>G	20.37:g.39832032G>C	ENSP00000312222:p.Leu509Val					ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.L509V|ZHX3_uc002xjt.1_Missense_Mutation_p.L509V|ZHX3_uc002xju.1_Missense_Mutation_p.L509V|ZHX3_uc002xjv.1_Missense_Mutation_p.L509V|ZHX3_uc002xjw.1_Missense_Mutation_p.L509V|ZHX3_uc010ggg.1_Missense_Mutation_p.L509V	p.L509V	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN			3	1903	-		Myeloproliferative disorder(115;0.00425)	509			Required for nuclear localization.|Homeobox 2.		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	c.1525C>G	CCDS13315.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.83|14.83	2.653538|2.653538	0.47362|0.47362	.|.	.|.	ENSG00000174306|ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262|ENST00000421422	D;D;D|.	0.99574|.	-6.2;-6.2;-6.2|.	5.93|5.93	3.99|3.99	0.46301|0.46301	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.81283|0.81283	0.4790|0.4790	H|H	0.94925|0.94925	3.6|3.6	0.47183|0.47183	D|D	0.999347|0.999347	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.997|.	D|D	0.83641|0.83641	0.0150|0.0150	10|5	0.52906|.	T|.	0.07|.	-13.5425|-13.5425	9.755|9.755	0.40498|0.40498	0.2696:0.0:0.7304:0.0|0.2696:0.0:0.7304:0.0	.|.	509;509;509|.	A8K8Q0;Q9H4I2;F5H820|.	.;ZHX3_HUMAN;.|.	V|C	509;509;509;509;287|217	ENSP00000362360:L509V;ENSP00000442290:L509V;ENSP00000443783:L509V|.	ENSP00000312222:L509V|.	L|S	-|-	1|2	2|0	ZHX3|ZHX3	39265446|39265446	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.805000|3.805000	0.55575|0.55575	0.845000|0.845000	0.35118|0.35118	0.561000|0.561000	0.74099|0.74099	CTG|TCT		0.527	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		18	77	0	0	0	0	18	77				
SEMG2	6407	broad.mit.edu	37	20	43850534	43850534	+	Missense_Mutation	SNP	G	G	C	rs147702753	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:43850534G>C	ENST00000372769.3	+	2	351	c.261G>C	c.(259-261)ttG>ttC	p.L87F		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	87	Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AATATGATTTGAATGCCCTAC	0.363																																						uc010ggz.2		NA																	0				skin(1)	1						c.(259-261)TTG>TTC		semenogelin II precursor							114.0	105.0	108.0					20																	43850534		2203	4300	6503	SO:0001583	missense	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43850534G>C		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.261G>C	20.37:g.43850534G>C	ENSP00000361855:p.Leu87Phe					SEMG2_uc002xnk.2_Missense_Mutation_p.L87F|SEMG2_uc002xnl.2_Missense_Mutation_p.L87F	p.L87F	NM_003008	NP_002999	Q02383	SEMG2_HUMAN			2	318	+		Myeloproliferative disorder(115;0.0122)	87			Repeat-rich region.|3-1.		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	c.261G>C	CCDS13346.1	.	.	.	.	.	.	.	.	.	.	G	9.754	1.168342	0.21621	.	.	ENSG00000124157	ENST00000372769	T	0.15017	2.46	1.28	-1.17	0.09648	.	.	.	.	.	T	0.29288	0.0729	M	0.62723	1.935	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.996;0.998;0.998	T	0.15206	-1.0445	9	0.51188	T	0.08	.	1.7412	0.02952	0.2444:0.0:0.4257:0.3299	.	87;87;87	A8K6Z6;Q6IRW3;Q02383	.;.;SEMG2_HUMAN	F	87	ENSP00000361855:L87F	ENSP00000361855:L87F	L	+	3	2	SEMG2	43283948	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.364000	0.07583	-0.356000	0.08187	0.557000	0.71058	TTG		0.363	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		35	90	0	0	0	0	35	90				
ZSWIM1	90204	broad.mit.edu	37	20	44512005	44512005	+	Silent	SNP	C	C	G	rs116789871		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:44512005C>G	ENST00000372523.1	+	2	869	c.774C>G	c.(772-774)ctC>ctG	p.L258L	ZSWIM1_ENST00000372520.1_Silent_p.L258L	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	258						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				TCCAGAGCCTCGAGGTCACCA	0.572																																						uc010ghi.2		NA																	0				skin(1)	1						c.(772-774)CTC>CTG		zinc finger, SWIM-type containing 1							97.0	83.0	88.0					20																	44512005		2203	4300	6503	SO:0001819	synonymous_variant	90204						zinc ion binding	g.chr20:44512005C>G	AL008726	CCDS13382.2	20q13.12	2013-09-20	2003-12-17	2003-12-19	ENSG00000168612	ENSG00000168612		"""Zinc fingers, SWIM-type"""	16155	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 162"""	C20orf162			Standard	NM_080603		Approved	dJ337O18.5	uc010ghi.3	Q9BR11	OTTHUMG00000074023	ENST00000372523.1:c.774C>G	20.37:g.44512005C>G						ZSWIM1_uc010zxh.1_Silent_p.L131L	p.L258L	NM_080603	NP_542170	Q9BR11	ZSWM1_HUMAN			2	887	+		Myeloproliferative disorder(115;0.028)	258					Q5JZH2|Q9BR12|Q9BV30	Silent	SNP	ENST00000372523.1	37	c.774C>G	CCDS13382.2																																																																																				0.572	ZSWIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157064.2	NM_080603		3	149	0	0	0	0	3	149				
KCNB1	3745	broad.mit.edu	37	20	47990509	47990509	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:47990509C>T	ENST00000371741.4	-	2	1754	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	530					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	TACATGTCTTCCAACTGCTGA	0.468																																						uc002xur.1		NA																	0				pancreas(1)|skin(1)	2						c.(1588-1590)GAA>AAA		potassium voltage-gated channel, Shab-related							263.0	240.0	248.0					20																	47990509		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47990509C>T	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1588G>A	20.37:g.47990509C>T	ENSP00000360806:p.Glu530Lys					KCNB1_uc002xus.1_Missense_Mutation_p.E530K	p.E530K	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	1752	-			530			Cytoplasmic (Potential).		Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.1588G>A	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016329	0.75161	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	T	0.38887	1.11	6.07	5.12	0.69794	.	0.322852	0.30547	N	0.009384	T	0.62368	0.2422	M	0.75777	2.31	0.54753	D	0.999988	P	0.39520	0.676	P	0.53912	0.737	T	0.65936	-0.6047	10	0.66056	D	0.02	.	17.3378	0.87287	0.0:0.8751:0.1249:0.0	.	530	Q14721	KCNB1_HUMAN	K	530;485	ENSP00000360806:E530K	ENSP00000360806:E530K	E	-	1	0	KCNB1	47423916	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.079000	0.71291	1.552000	0.49463	0.655000	0.94253	GAA		0.468	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		98	295	0	0	0	0	98	295				
B4GALT5	9334	broad.mit.edu	37	20	48330154	48330154	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:48330154G>A	ENST00000371711.4	-	1	261	c.74C>T	c.(73-75)tCg>tTg	p.S25L		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	25					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			CAGCGAGGACGAGAGAGAAAA	0.706																																						uc002xuu.3		NA																	0				ovary(1)	1						c.(73-75)TCG>TTG		UDP-Gal:betaGlcNAc beta 1,4-							9.0	12.0	11.0					20																	48330154		2168	4270	6438	SO:0001583	missense	9334				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding	g.chr20:48330154G>A	AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"""Beta 4-glycosyltransferases"""	928	protein-coding gene	gene with protein product	"""beta4-GalT IV"""	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.74C>T	20.37:g.48330154G>A	ENSP00000360776:p.Ser25Leu						p.S25L	NM_004776	NP_004767	O43286	B4GT5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;2.51e-06)		1	268	-			25			Helical; Signal-anchor for type II membrane protein; (Potential).		E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	ENST00000371711.4	37	c.74C>T	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.710648	0.30322	.	.	ENSG00000158470	ENST00000371711	T	0.38401	1.14	2.7	0.558	0.17266	.	0.206698	0.42821	U	0.000647	T	0.24084	0.0583	L	0.49126	1.545	0.36717	D	0.880992	B	0.02656	0.0	B	0.01281	0.0	T	0.19128	-1.0315	10	0.10636	T	0.68	-0.0599	6.1029	0.20057	0.1197:0.1912:0.6891:0.0	.	25	O43286	B4GT5_HUMAN	L	25	ENSP00000360776:S25L	ENSP00000360776:S25L	S	-	2	0	B4GALT5	47763561	1.000000	0.71417	0.896000	0.35187	0.570000	0.35934	3.521000	0.53472	-0.066000	0.12998	0.195000	0.17529	TCG		0.706	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776		3	5	0	0	0	0	3	5				
DPM1	8813	broad.mit.edu	37	20	49552791	49552791	+	Missense_Mutation	SNP	C	C	T	rs546651949		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:49552791C>T	ENST00000371588.5	-	8	598	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	DPM1_ENST00000371582.4_Missense_Mutation_p.R218Q|AL034553.1_ENST00000584882.1_RNA|DPM1_ENST00000371583.5_Missense_Mutation_p.R186Q|RP5-914P20.5_ENST00000558899.2_RNA|DPM1_ENST00000466152.1_5'UTR	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	191				R -> P (in Ref. 6; AAC98797). {ECO:0000305}.	C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						AACTTCTTTTCGGTATAATCT	0.318													C|||	1	0.000199681	0.0	0.0	5008	,	,		15285	0.0		0.0	False		,,,				2504	0.001					uc002xvw.1		NA																	0				ovary(1)	1						c.(571-573)CGA>CAA		dolichyl-phosphate mannosyltransferase 1							49.0	49.0	49.0					20																	49552791		2203	4300	6503	SO:0001583	missense	8813				C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding	g.chr20:49552791C>T	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742	ENST00000371588.5:c.572G>A	20.37:g.49552791C>T	ENSP00000360644:p.Arg191Gln					DPM1_uc002xvv.1_Missense_Mutation_p.R121Q|DPM1_uc002xvx.1_RNA	p.R191Q	NM_003859	NP_003850	O60762	DPM1_HUMAN			8	572	-			191	R -> P (in Ref. 6; AAC98797).				O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	c.572G>A	CCDS13434.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642542	0.87859	.	.	ENSG00000000419	ENST00000371588;ENST00000371582;ENST00000449701;ENST00000371583;ENST00000413082	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	5.81	3.87	0.44632	Glycosyl transferase, family 2 (1);	0.164580	0.52532	D	0.000072	D	0.83119	0.5185	M	0.93328	3.405	0.41319	D	0.98716	D;D	0.63046	0.992;0.986	P;P	0.60286	0.872;0.819	D	0.87606	0.2500	9	.	.	.	-2.6688	12.4116	0.55469	0.0:0.8606:0.0:0.1394	.	191;226	O60762;E9PBD4	DPM1_HUMAN;.	Q	191;218;226;186;186	ENSP00000360644:R191Q;ENSP00000360638:R218Q;ENSP00000360639:R186Q;ENSP00000394921:R186Q	.	R	-	2	0	DPM1	48986198	1.000000	0.71417	0.981000	0.43875	0.917000	0.54804	3.399000	0.52586	1.461000	0.47929	0.655000	0.94253	CGA		0.318	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		21	54	0	0	0	0	21	54				
SLC17A9	63910	broad.mit.edu	37	20	61594629	61594629	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:61594629C>T	ENST00000370351.4	+	6	764	c.633C>T	c.(631-633)ctC>ctT	p.L211L	SLC17A9_ENST00000370349.3_Silent_p.L205L|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	211					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCTCAGATCTCATCCTGGCCT	0.622																																						uc002yea.3		NA																	0				ovary(1)|skin(1)	2						c.(631-633)CTC>CTT		vesicular nucleotide transporter SLC17A9							47.0	50.0	49.0					20																	61594629		2003	4174	6177	SO:0001819	synonymous_variant	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61594629C>T	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.633C>T	20.37:g.61594629C>T						SLC17A9_uc002ydz.3_Silent_p.L205L|SLC17A9_uc011aap.1_Silent_p.L231L	p.L211L	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN			6	817	+			211					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Silent	SNP	ENST00000370351.4	37	c.633C>T	CCDS42901.1																																																																																				0.622	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		7	45	0	0	0	0	7	45				
GMEB2	26205	broad.mit.edu	37	20	62234366	62234366	+	Silent	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:62234366G>T	ENST00000266068.1	-	3	787	c.309C>A	c.(307-309)ctC>ctA	p.L103L	GMEB2_ENST00000370069.1_Silent_p.L52L|GMEB2_ENST00000370077.1_Silent_p.L103L			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	103	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			TCCTCCAGATGAGGTTGGCTC	0.537																																						uc002yfp.1		NA																	0					0						c.(307-309)CTC>CTA		glucocorticoid modulatory element binding							178.0	152.0	161.0					20																	62234366		2203	4300	6503	SO:0001819	synonymous_variant	26205				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding	g.chr20:62234366G>T	AF173867	CCDS13528.1	20q13.33	2008-07-02			ENSG00000101216	ENSG00000101216			4371	protein-coding gene	gene with protein product		607451				10523663, 11743720	Standard	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	Q9UKD1	OTTHUMG00000032988	ENST00000266068.1:c.309C>A	20.37:g.62234366G>T						GMEB2_uc002yfo.1_Silent_p.L25L|GMEB2_uc002yfq.1_Silent_p.L103L	p.L103L	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)		3	788	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		103			SAND.		E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Silent	SNP	ENST00000266068.1	37	c.309C>A	CCDS13528.1																																																																																				0.537	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080166.1	NM_012384		7	212	1	0	0.00198382	0.00201756	7	212				
UCKL1	54963	broad.mit.edu	37	20	62587639	62587639	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr20:62587639C>G	ENST00000354216.6	-	1	129	c.87G>C	c.(85-87)gaG>gaC	p.E29D	UCKL1_ENST00000358711.3_Missense_Mutation_p.E29D|UCKL1_ENST00000369892.3_Missense_Mutation_p.E29D	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	29					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TCTCGCTTTTCTCAGCCTGCC	0.741																																						uc010gkn.2		NA																	0					0						c.(85-87)GAG>GAC		uridine-cytidine kinase 1-like 1							23.0	23.0	23.0					20																	62587639		2191	4283	6474	SO:0001583	missense	54963				interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity	g.chr20:62587639C>G	AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.87G>C	20.37:g.62587639C>G	ENSP00000346155:p.Glu29Asp					UCKL1_uc011abn.1_RNA|UCKL1_uc011abo.1_RNA|UCKL1AS_uc011abp.1_RNA	p.E29D	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN			1	130	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		29					B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Missense_Mutation	SNP	ENST00000354216.6	37	c.87G>C	CCDS13547.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385570	0.25031	.	.	ENSG00000198276	ENST00000354216;ENST00000369892;ENST00000358711	.	.	.	2.63	1.62	0.23740	.	1.493360	0.04777	U	0.429100	T	0.30166	0.0756	L	0.32530	0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18304	-1.0341	9	0.12103	T	0.63	.	6.5362	0.22355	0.2863:0.7137:0.0:0.0	.	29	Q9NWZ5	UCKL1_HUMAN	D	29	.	ENSP00000346155:E29D	E	-	3	2	UCKL1	62058083	0.000000	0.05858	0.013000	0.15412	0.327000	0.28475	-0.280000	0.08468	0.604000	0.29930	0.313000	0.20887	GAG		0.741	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859		4	17	0	0	0	0	4	17				
TPTE	7179	broad.mit.edu	37	21	11014937	11014937	+	Splice_Site	SNP	C	C	T	rs150470		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:11014937C>T	ENST00000415664.2	-	6	808		c.e6+1					P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAGCACAATACCTATCACATT	0.328																																						uc002yis.1		NA																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.e7+1		Homo sapiens putative tyrosine phosphatase mRNA, complete cds.																																				SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:11014937C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000415664.2:c.2528+1G>A	21.37:g.11014937C>T										P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	7		-								B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000415664.2	37	c.1508_splice																																																																																					0.328	TPTE-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000340030.1		Intron	3	54	0	0	0	0	3	54				
APP	351	broad.mit.edu	37	21	27284272	27284272	+	Missense_Mutation	SNP	C	C	T	rs200521782		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:27284272C>T	ENST00000346798.3	-	14	1723	c.1690G>A	c.(1690-1692)Gag>Aag	p.E564K	APP_ENST00000448388.2_Missense_Mutation_p.E454K|APP_ENST00000354192.3_Missense_Mutation_p.E433K|APP_ENST00000359726.3_Missense_Mutation_p.E508K|APP_ENST00000357903.3_Missense_Mutation_p.E545K|APP_ENST00000439274.2_Missense_Mutation_p.E508K|APP_ENST00000440126.3_Missense_Mutation_p.E540K|APP_ENST00000348990.5_Missense_Mutation_p.E489K|APP_ENST00000358918.3_Missense_Mutation_p.E564K	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	564					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TGAAGCAGCTCATCTAAACCA	0.438																																						uc002ylz.2		NA																	0				ovary(1)	1						c.(1690-1692)GAG>AAG		amyloid beta A4 protein isoform a precursor							124.0	85.0	98.0					21																	27284272		2203	4300	6503	SO:0001583	missense	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27284272C>T	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"""Endogenous ligands"""	620	protein-coding gene	gene with protein product	"""peptidase nexin-II"""	104760	"""Alzheimer disease"""	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1690G>A	21.37:g.27284272C>T	ENSP00000284981:p.Glu564Lys					APP_uc011acg.1_Missense_Mutation_p.E72K|APP_uc010glk.2_Missense_Mutation_p.E540K|APP_uc002yma.2_Missense_Mutation_p.E545K|APP_uc011ach.1_Missense_Mutation_p.E508K|APP_uc002ymb.2_Missense_Mutation_p.E489K|APP_uc010glj.2_Missense_Mutation_p.E433K|APP_uc011aci.1_Missense_Mutation_p.E454K	p.E564K	NM_000484	NP_000475	P05067	A4_HUMAN			14	1890	-		Breast(209;0.00295)	564			Extracellular (Potential).		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	37	c.1690G>A	CCDS13576.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738349	0.69304	.	.	ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274;ENST00000456209	T;T;T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	4.76	4.76	0.60689	Amyloidogenic glycoprotein, E2 domain (1);	0.049078	0.85682	D	0.000000	T	0.63733	0.2536	L	0.60455	1.87	0.80722	D	1	B;B;P;P;D;D;P	0.54964	0.327;0.373;0.947;0.456;0.969;0.969;0.939	B;B;P;B;P;P;P	0.61533	0.037;0.117;0.78;0.08;0.89;0.89;0.473	T	0.67019	-0.5776	10	0.87932	D	0	-28.7694	17.9136	0.88942	0.0:1.0:0.0:0.0	.	454;508;540;433;489;545;564	E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.;.;.;.;.;.;A4_HUMAN	K	564;433;489;545;564;508;454;540;508;151	ENSP00000284981:E564K;ENSP00000346129:E433K;ENSP00000345463:E489K;ENSP00000350578:E545K;ENSP00000351796:E564K;ENSP00000352760:E508K;ENSP00000388538:E454K;ENSP00000387483:E540K;ENSP00000398879:E508K;ENSP00000397795:E151K	ENSP00000284981:E564K	E	-	1	0	APP	26206143	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.187000	0.65087	2.640000	0.89533	0.561000	0.74099	GAG		0.438	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		16	56	0	0	0	0	16	56				
ADAMTS5	11096	broad.mit.edu	37	21	28338537	28338537	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:28338537G>A	ENST00000284987.5	-	1	295	c.174C>T	c.(172-174)ccC>ccT	p.P58P		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	58					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCGGGTGGCCGGGAGGCTCGG	0.726																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(172-174)CCC>CCT		ADAM metallopeptidase with thrombospondin type 1							13.0	14.0	13.0					21																	28338537		2060	4099	6159	SO:0001819	synonymous_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28338537G>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.174C>T	21.37:g.28338537G>A							p.P58P	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			1	903	-			58					Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	c.174C>T	CCDS13579.1																																																																																				0.726	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			6	39	0	0	0	0	6	39				
TIAM1	7074	broad.mit.edu	37	21	32503217	32503217	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:32503217C>G	ENST00000286827.3	-	25	4404	c.3933G>C	c.(3931-3933)aaG>aaC	p.K1311N	TIAM1_ENST00000541036.1_Missense_Mutation_p.K1251N	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1311	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CAAGTTTCTTCTTCTGTTTGG	0.348																																						uc002yow.1		NA																	0				lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(3931-3933)AAG>AAC		T-cell lymphoma invasion and metastasis 1							149.0	135.0	139.0					21																	32503217		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32503217C>G		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3933G>C	21.37:g.32503217C>G	ENSP00000286827:p.Lys1311Asn					TIAM1_uc011adk.1_Missense_Mutation_p.K1311N|TIAM1_uc011adl.1_Missense_Mutation_p.K1251N	p.K1311N	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			25	4405	-			1311			PH 2.		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.3933G>C	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338804	0.81911	.	.	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.53423	0.62;0.64	5.91	5.91	0.95273	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.68072	0.2961	M	0.74258	2.255	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.997	P;P;P	0.59424	0.857;0.723;0.723	T	0.70040	-0.4981	10	0.87932	D	0	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	1251;1251;1311	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	N	1311;1251	ENSP00000286827:K1311N;ENSP00000441570:K1251N	ENSP00000286827:K1311N	K	-	3	2	TIAM1	31425088	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.995000	0.57001	2.793000	0.96121	0.655000	0.94253	AAG		0.348	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		18	66	0	0	0	0	18	66				
MRAP	56246	broad.mit.edu	37	21	33671366	33671366	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:33671366G>A	ENST00000399784.2	+	3	271	c.84G>A	c.(82-84)gaG>gaA	p.E28E	MRAP_ENST00000339944.4_Silent_p.E28E|MRAP_ENST00000497833.1_Intron|MRAP_ENST00000399786.3_Silent_p.E28E|MRAP_ENST00000303645.5_Silent_p.E28E	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	28					brown fat cell differentiation (GO:0050873)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)			endometrium(1)|large_intestine(2)|lung(3)	6						CCGTGGACGAGAAGAAGCTGA	0.577																																						uc002ypj.2		NA																	0					0						c.(82-84)GAG>GAA		melanocortin 2 receptor accessory protein							100.0	75.0	83.0					21																	33671366		2203	4300	6503	SO:0001819	synonymous_variant	56246				positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	g.chr21:33671366G>A	AF454915	CCDS13612.1, CCDS13613.1	21q22.1	2005-10-30	2005-02-01	2005-02-07	ENSG00000170262	ENSG00000170262			1304	protein-coding gene	gene with protein product		609196	"""chromosome 21 open reading frame 61"""	C21orf61		12036298, 15654338	Standard	NM_178817		Approved	B27, FALP	uc002ypj.3	Q8TCY5	OTTHUMG00000085309	ENST00000399784.2:c.84G>A	21.37:g.33671366G>A						MRAP_uc002ypk.2_Silent_p.E28E|MRAP_uc011ado.1_Intron|MRAP_uc002ypl.2_Silent_p.E28E	p.E28E	NM_178817	NP_848932	Q8TCY5	MRAP_HUMAN			3	271	+			28			Cytoplasmic (Potential).		Q5EBR3|Q8TDB7|Q8WXC1|Q8WXC2	Silent	SNP	ENST00000399784.2	37	c.84G>A	CCDS13613.1																																																																																				0.577	MRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000193092.1	NM_178817		16	26	0	0	0	0	16	26				
CLIC6	54102	broad.mit.edu	37	21	36079593	36079593	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:36079593G>C	ENST00000360731.3	+	3	1444	c.1444G>C	c.(1444-1446)Gag>Cag	p.E482Q	CLIC6_ENST00000349499.2_Missense_Mutation_p.E464Q			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	482						chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						TTATGATGGTGAGAGTATCGG	0.423																																						uc010gmt.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1444-1446)GAG>CAG		chloride intracellular channel 6							175.0	136.0	150.0					21																	36079593		2203	4300	6503	SO:0001583	missense	54102					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	g.chr21:36079593G>C	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"""Ion channels / Chloride channels : Intracellular"""	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.1444G>C	21.37:g.36079593G>C	ENSP00000353959:p.Glu482Gln					CLIC6_uc002yuf.1_Missense_Mutation_p.E464Q	p.E482Q	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN			3	1444	+			482					A8K0U8|Q8IX31	Missense_Mutation	SNP	ENST00000360731.3	37	c.1444G>C		.	.	.	.	.	.	.	.	.	.	G	13.26	2.184375	0.38609	.	.	ENSG00000159212	ENST00000360731;ENST00000349499	T;T	0.42131	1.68;0.98	4.8	4.8	0.61643	Thioredoxin-like fold (2);	0.136721	0.52532	D	0.000065	T	0.56108	0.1963	L	0.39898	1.24	0.58432	D	0.999999	B;D	0.89917	0.068;1.0	B;D	0.67725	0.007;0.953	T	0.58165	-0.7684	10	0.62326	D	0.03	-28.7069	18.4134	0.90559	0.0:0.0:1.0:0.0	.	482;464	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	Q	482;464	ENSP00000353959:E482Q;ENSP00000290332:E464Q	ENSP00000290332:E464Q	E	+	1	0	CLIC6	35001463	1.000000	0.71417	0.910000	0.35882	0.002000	0.02628	5.479000	0.66813	2.631000	0.89168	0.643000	0.83706	GAG		0.423	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			20	78	0	0	0	0	20	78				
DYRK1A	1859	broad.mit.edu	37	21	38884327	38884327	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:38884327G>C	ENST00000398960.2	+	11	1860	c.1785G>C	c.(1783-1785)caG>caC	p.Q595H	DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000455387.2_Missense_Mutation_p.Q367H|DYRK1A_ENST00000339659.4_Missense_Mutation_p.Q586H	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	595					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCCCTCAACAGAATGCATTGC	0.502																																					Melanoma(114;464 1602 31203 43785 45765)	uc002ywk.2		NA																	0				ovary(2)|lung(1)|breast(1)	4						c.(1783-1785)CAG>CAC		dual-specificity tyrosine-(Y)-phosphorylation							114.0	96.0	102.0					21																	38884327		2203	4300	6503	SO:0001583	missense	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38884327G>C	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.1785G>C	21.37:g.38884327G>C	ENSP00000381932:p.Gln595His					DYRK1A_uc002ywi.2_3'UTR|DYRK1A_uc002ywj.2_Missense_Mutation_p.Q586H|DYRK1A_uc002ywl.2_3'UTR|DYRK1A_uc002ywm.2_3'UTR|DYRK1A_uc011aei.1_Missense_Mutation_p.Q356H	p.Q595H	NM_001396	NP_001387	Q13627	DYR1A_HUMAN			11	1860	+			595					O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	c.1785G>C	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	G	8.104	0.777342	0.16120	.	.	ENSG00000157540	ENST00000339659;ENST00000398960;ENST00000455387	T;T;T	0.58060	0.36;0.36;0.91	5.54	5.54	0.83059	.	0.249934	0.42420	D	0.000713	T	0.35682	0.0940	N	0.14661	0.345	0.39971	D	0.974792	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.18209	-1.0344	10	0.36615	T	0.2	.	12.77	0.57415	0.075:0.0:0.925:0.0	.	595;586	Q13627;Q13627-2	DYR1A_HUMAN;.	H	586;595;367	ENSP00000340373:Q586H;ENSP00000381932:Q595H;ENSP00000407854:Q367H	ENSP00000340373:Q586H	Q	+	3	2	DYRK1A	37806197	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.900000	0.56295	2.608000	0.88229	0.655000	0.94253	CAG		0.502	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		22	59	0	0	0	0	22	59				
KCNJ15	3772	broad.mit.edu	37	21	39672179	39672179	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:39672179G>C	ENST00000328656.4	+	4	1299	c.996G>C	c.(994-996)caG>caC	p.Q332H	KCNJ15_ENST00000398934.1_Missense_Mutation_p.Q332H|KCNJ15_ENST00000398930.1_Missense_Mutation_p.Q332H|KCNJ15_ENST00000398938.2_Missense_Mutation_p.Q332H|KCNJ15_ENST00000398932.1_Missense_Mutation_p.Q332H	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	332					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	AGTTTGAACAGATTCGGAAAA	0.433																																						uc002ywv.2		NA																	0				ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						c.(994-996)CAG>CAC		potassium inwardly-rectifying channel J15							63.0	63.0	63.0					21																	39672179		2203	4300	6503	SO:0001583	missense	3772				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity	g.chr21:39672179G>C	Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.996G>C	21.37:g.39672179G>C	ENSP00000331698:p.Gln332His					KCNJ15_uc002yww.2_Missense_Mutation_p.Q332H|KCNJ15_uc002ywx.2_Missense_Mutation_p.Q332H	p.Q332H	NM_002243	NP_002234	Q99712	IRK15_HUMAN			4	1298	+			332			Cytoplasmic (By similarity).		D3DSH5|O00564|Q96L28|Q99446	Missense_Mutation	SNP	ENST00000328656.4	37	c.996G>C	CCDS13656.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062358	0.55432	.	.	ENSG00000157551	ENST00000328656;ENST00000398938;ENST00000398932;ENST00000398930;ENST00000398934	D;D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87;-2.87	5.83	4.77	0.60923	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.238019	0.41605	D	0.000849	D	0.87148	0.6105	N	0.26042	0.785	0.33031	D	0.530191	P	0.42409	0.779	P	0.48227	0.571	D	0.87832	0.2645	9	.	.	.	.	12.213	0.54389	0.1441:0.0:0.8559:0.0	.	332	Q99712	IRK15_HUMAN	H	332	ENSP00000331698:Q332H;ENSP00000381911:Q332H;ENSP00000381905:Q332H;ENSP00000381904:Q332H;ENSP00000381907:Q332H	.	Q	+	3	2	KCNJ15	38594049	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	1.443000	0.35057	2.770000	0.95276	0.655000	0.94253	CAG		0.433	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	NM_002243		31	105	0	0	0	0	31	105				
ETS2	2114	broad.mit.edu	37	21	40191474	40191474	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:40191474G>A	ENST00000360214.3	+	9	1319	c.859G>A	c.(859-861)Gag>Aag	p.E287K	ETS2_ENST00000360938.3_Missense_Mutation_p.E287K	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	287					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				GGACAGCTTCGAGAGCTCAGA	0.552																																						uc002yxg.2		NA																	0				ovary(1)|lung(1)|breast(1)|pancreas(1)	4						c.(859-861)GAG>AAG		v-ets erythroblastosis virus E26 oncogene							87.0	76.0	80.0					21																	40191474		2203	4300	6503	SO:0001583	missense	2114				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:40191474G>A		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"""v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"""			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.859G>A	21.37:g.40191474G>A	ENSP00000353344:p.Glu287Lys					ETS2_uc002yxf.2_Missense_Mutation_p.E427K	p.E287K	NM_005239	NP_005230	P15036	ETS2_HUMAN			8	1055	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	287					A6NM68|D3DSH6|Q53Y89	Missense_Mutation	SNP	ENST00000360214.3	37	c.859G>A	CCDS13659.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231167	0.79688	.	.	ENSG00000157557	ENST00000360214;ENST00000360938	T;T	0.15487	2.42;2.42	5.9	5.9	0.94986	.	0.254634	0.45606	D	0.000354	T	0.42359	0.1199	M	0.72894	2.215	0.58432	D	0.999999	D	0.89917	1.0	D	0.75484	0.986	T	0.04495	-1.0947	10	0.18276	T	0.48	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	287	P15036	ETS2_HUMAN	K	287	ENSP00000353344:E287K;ENSP00000354194:E287K	ENSP00000353344:E287K	E	+	1	0	ETS2	39113344	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	9.295000	0.96095	2.788000	0.95919	0.650000	0.86243	GAG		0.552	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1			16	54	0	0	0	0	16	54				
BRWD1	54014	broad.mit.edu	37	21	40574319	40574319	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:40574319G>C	ENST00000333229.2	-	38	4844	c.4517C>G	c.(4516-4518)tCa>tGa	p.S1506*	BRWD1_ENST00000380800.3_Nonsense_Mutation_p.S1506*|BRWD1_ENST00000342449.3_Nonsense_Mutation_p.S1506*	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1506					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TGCTGAATCTGAAGAGTCACC	0.403																																					Melanoma(170;988 1986 4794 16843 39731)	uc002yxk.1		NA																	0				skin(3)|ovary(1)	4						c.(4516-4518)TCA>TGA		bromodomain and WD repeat domain containing 1							98.0	90.0	92.0					21																	40574319		2203	4300	6503	SO:0001587	stop_gained	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40574319G>C	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4517C>G	21.37:g.40574319G>C	ENSP00000330753:p.Ser1506*					BRWD1_uc010goc.1_Nonsense_Mutation_p.S149*|BRWD1_uc002yxl.2_Nonsense_Mutation_p.S1506*|BRWD1_uc010god.1_Nonsense_Mutation_p.S424*	p.S1506*	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN			38	4656	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1506					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Nonsense_Mutation	SNP	ENST00000333229.2	37	c.4517C>G	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.043696|4.043696	0.75732|0.75732	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000424441;ENST00000380783|ENST00000333229;ENST00000342449;ENST00000380800	.|.	.|.	.|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	.|0.218405	.|0.32002	.|N	.|0.006734	T|.	0.75213|.	0.3819|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.77056|.	-0.2729|.	5|.	0.21540|0.56958	T|D	0.41|0.05	-7.5569|-7.5569	16.7138|16.7138	0.85392|0.85392	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	L|X	443;461|1506	.|.	ENSP00000370160:F461L|ENSP00000330753:S1506X	F|S	-|-	3|2	2|0	BRWD1|BRWD1	39496189|39496189	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	6.142000|6.142000	0.71750|0.71750	2.477000|2.477000	0.83638|0.83638	0.655000|0.655000	0.94253|0.94253	TTC|TCA		0.403	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		31	85	0	0	0	0	31	85				
IGSF5	150084	broad.mit.edu	37	21	41165472	41165472	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:41165472C>G	ENST00000380588.4	+	8	1163	c.1060C>G	c.(1060-1062)Ctc>Gtc	p.L354V		NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	354					single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				CACCGCTTCTCTCCCTCCCAA	0.423																																						uc002yyo.2		NA																	0					0						c.(1060-1062)CTC>GTC		immunoglobulin superfamily 5 like							136.0	139.0	138.0					21																	41165472		2203	4300	6503	SO:0001583	missense	150084					integral to membrane|tight junction		g.chr21:41165472C>G		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.1060C>G	21.37:g.41165472C>G	ENSP00000369962:p.Leu354Val						p.L354V	NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN			8	1163	+		Prostate(19;5.35e-06)	354			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000380588.4	37	c.1060C>G	CCDS33562.1	.	.	.	.	.	.	.	.	.	.	C	6.682	0.494425	0.12702	.	.	ENSG00000183067	ENST00000380588	T	0.12039	2.72	4.15	-3.28	0.05033	.	2.147640	0.01958	N	0.043151	T	0.09730	0.0239	L	0.34521	1.04	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.26292	-1.0107	10	0.44086	T	0.13	0.0079	1.6216	0.02714	0.1432:0.2736:0.1402:0.4431	.	354	Q9NSI5	IGSF5_HUMAN	V	354	ENSP00000369962:L354V	ENSP00000369962:L354V	L	+	1	0	IGSF5	40087342	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.840000	0.04363	-0.779000	0.04560	-0.216000	0.12614	CTC		0.423	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1			31	99	0	0	0	0	31	99				
MX1	4599	broad.mit.edu	37	21	42823125	42823125	+	Silent	SNP	G	G	A	rs548016085		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:42823125G>A	ENST00000398600.2	+	17	2489	c.1464G>A	c.(1462-1464)tcG>tcA	p.S488S	MX1_ENST00000288383.6_Silent_p.S465S|MX1_ENST00000398598.3_Silent_p.S488S|MX1_ENST00000455164.2_Silent_p.S488S	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	488	Middle domain.|Stalk.				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CAGATGTTTCGATAAAAAATT	0.313													G|||	1	0.000199681	0.0	0.0	5008	,	,		13487	0.0		0.0	False		,,,				2504	0.001					uc002yzh.2		NA																	0				ovary(1)	1						c.(1462-1464)TCG>TCA		myxovirus resistance protein 1							165.0	189.0	181.0					21																	42823125		2203	4300	6503	SO:0001819	synonymous_variant	4599				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	g.chr21:42823125G>A		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.1464G>A	21.37:g.42823125G>A						MX1_uc002yzi.2_Silent_p.S488S|MX1_uc010goq.2_Silent_p.S488S	p.S488S	NM_001144925	NP_001138397	P20591	MX1_HUMAN			17	2411	+		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)	488					B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Silent	SNP	ENST00000398600.2	37	c.1464G>A	CCDS13673.1																																																																																				0.313	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2			5	461	0	0	0	0	5	461				
SIK1	150094	broad.mit.edu	37	21	44841567	44841567	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:44841567G>C	ENST00000270162.6	-	5	582	c.450C>G	c.(448-450)ctC>ctG	p.L150L		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	150	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	TCTCGGTCTTGAGGTCCCGGT	0.617																																						uc002zdf.2		NA																	0				lung(2)|testis(2)|ovary(1)|central_nervous_system(1)|skin(1)	7						c.(448-450)CTC>CTG		salt-inducible kinase 1							88.0	74.0	79.0					21																	44841567		2202	4300	6502	SO:0001819	synonymous_variant	150094				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr21:44841567G>C	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"""myocardial SNF1-like kinase"""	605705	"""SNF1-like kinase"""	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.450C>G	21.37:g.44841567G>C							p.L150L	NM_173354	NP_775490	P57059	SIK1_HUMAN			5	577	-			150			Protein kinase.		A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Silent	SNP	ENST00000270162.6	37	c.450C>G	CCDS33575.1																																																																																				0.617	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354		12	51	0	0	0	0	12	51				
RRP1B	23076	broad.mit.edu	37	21	45107740	45107740	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:45107740G>A	ENST00000340648.4	+	13	1602	c.1485G>A	c.(1483-1485)gaG>gaA	p.E495E		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	495					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		TGCCCCCAGAGGACATGTCTC	0.577																																						uc002zdk.2		NA																	0				skin(1)	1						c.(1483-1485)GAG>GAA		ribosomal RNA processing 1 homolog B							49.0	54.0	52.0					21																	45107740		2203	4298	6501	SO:0001819	synonymous_variant	23076				rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	g.chr21:45107740G>A	AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.1485G>A	21.37:g.45107740G>A						RRP1B_uc002zdl.2_Silent_p.E28E	p.E495E	NM_015056	NP_055871	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)	13	1599	+			495					Q8TBZ4	Silent	SNP	ENST00000340648.4	37	c.1485G>A	CCDS33577.1																																																																																				0.577	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056		24	98	0	0	0	0	24	98				
C21orf33	8209	broad.mit.edu	37	21	45554008	45554008	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:45554008G>A	ENST00000291577.6	+	2	259	c.166G>A	c.(166-168)Gat>Aat	p.D56N	C21orf33_ENST00000348499.5_Missense_Mutation_p.D56N|C21orf33_ENST00000427803.2_Missense_Mutation_p.D56N|C21orf33_ENST00000493883.1_Intron	NM_004649.6	NP_004640	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	56						mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		CGGAGTCTACGATGGGACCGA	0.672																																						uc002zec.3		NA																	0				ovary(1)	1						c.(166-168)GAT>AAT		es1 protein isoform Ia precursor							33.0	31.0	31.0					21																	45554008		2203	4299	6502	SO:0001583	missense	8209					mitochondrion		g.chr21:45554008G>A	Y07572	CCDS33580.1, CCDS33581.1	21q22.3	2008-07-29			ENSG00000160221	ENSG00000160221			1273	protein-coding gene	gene with protein product		601659				9150728, 8975701	Standard	NM_004649		Approved	KNP-Ia, GT335, ES1, HES1, D21S2048E, KNPI, KNPH, KNP-I	uc002zec.4	P30042	OTTHUMG00000086916	ENST00000291577.6:c.166G>A	21.37:g.45554008G>A	ENSP00000291577:p.Asp56Asn					C21orf33_uc002zed.3_Missense_Mutation_p.D56N	p.D56N	NM_004649	NP_004640	P30042	ES1_HUMAN		STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)	2	252	+			56					A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Missense_Mutation	SNP	ENST00000291577.6	37	c.166G>A	CCDS33580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.101567|5.101567	0.94245|0.94245	.|.	.|.	ENSG00000160221|ENSG00000160221	ENST00000291577;ENST00000427803;ENST00000348499;ENST00000389690|ENST00000449622	T;T;T;T|.	0.37584|.	1.19;1.19;1.19;1.19|.	4.01|4.01	3.11|3.11	0.35812|0.35812	.|.	0.168917|.	0.50627|.	D|.	0.000112|.	T|T	0.79387|0.79387	0.4437|0.4437	M|M	0.90425|0.90425	3.115|3.115	0.51233|0.51233	D|D	0.999916|0.999916	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.72338|.	0.977;0.949|.	T|T	0.82711|0.82711	-0.0322|-0.0322	10|5	0.87932|.	D|.	0|.	-10.5072|-10.5072	13.2448|13.2448	0.60018|0.60018	0.0:0.0:0.8399:0.1601|0.0:0.0:0.8399:0.1601	.|.	56;56|.	P30042-2;P30042|.	.;ES1_HUMAN|.	N|Q	56;56;56;29|17	ENSP00000291577:D56N;ENSP00000396655:D56N;ENSP00000344901:D56N;ENSP00000374340:D29N|.	ENSP00000291577:D56N|.	D|R	+|+	1|2	0|0	C21orf33|C21orf33	44378436|44378436	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.959000|0.959000	0.62525|0.62525	6.693000|6.693000	0.74582|0.74582	0.781000|0.781000	0.33589|0.33589	0.455000|0.455000	0.32223|0.32223	GAT|CGA		0.672	C21orf33-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195824.1	NM_004649		7	29	0	0	0	0	7	29				
TRPM2	7226	broad.mit.edu	37	21	45826645	45826645	+	Missense_Mutation	SNP	G	G	T	rs528691267		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:45826645G>T	ENST00000397928.1	+	19	3404	c.2959G>T	c.(2959-2961)Gac>Tac	p.D987Y	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.D987Y|TRPM2_ENST00000300481.9_Missense_Mutation_p.D967Y|TRPM2_ENST00000397932.2_Missense_Mutation_p.D987Y	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	987					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGGCTACATCGACGGTAGGAG	0.667																																						uc002zet.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2959-2961)GAC>TAC		transient receptor potential cation channel,							33.0	30.0	31.0					21																	45826645		2180	4282	6462	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45826645G>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2959G>T	21.37:g.45826645G>T	ENSP00000381023:p.Asp987Tyr					TRPM2_uc002zeu.1_Missense_Mutation_p.D987Y|TRPM2_uc002zew.1_Missense_Mutation_p.D987Y|TRPM2_uc010gpt.1_Missense_Mutation_p.D987Y|TRPM2_uc002zex.1_Missense_Mutation_p.D773Y|TRPM2_uc002zey.1_Missense_Mutation_p.D500Y	p.D987Y	NM_003307	NP_003298	O94759	TRPM2_HUMAN			20	3172	+			987			Extracellular (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.2959G>T	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236077	0.58886	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92	3.68	3.68	0.42216	Ion transport (1);	0.397823	0.24245	N	0.040225	D	0.98858	0.9614	M	0.84326	2.69	0.51233	D	0.999915	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.995;0.996;0.995	D	0.99556	1.0967	10	0.59425	D	0.04	-15.7757	15.862	0.79032	0.0:0.0:1.0:0.0	.	987;773;987	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	Y	987;987;967;987	ENSP00000300482:D987Y;ENSP00000381023:D987Y;ENSP00000300481:D967Y;ENSP00000381026:D987Y	ENSP00000300481:D967Y	D	+	1	0	TRPM2	44651073	1.000000	0.71417	0.793000	0.32043	0.592000	0.36648	9.089000	0.94137	1.778000	0.52293	0.536000	0.68110	GAC		0.667	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		6	12	1	0	0.00116845	0.0011888	6	12				
TRPM2	7226	broad.mit.edu	37	21	45838391	45838391	+	Silent	SNP	C	C	T	rs376562171		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr21:45838391C>T	ENST00000397928.1	+	22	3859	c.3414C>T	c.(3412-3414)ttC>ttT	p.F1138F	AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000498430.1_3'UTR|AP001065.2_ENST00000456880.1_RNA|TRPM2_ENST00000300482.5_Silent_p.F1138F|TRPM2_ENST00000300481.9_Silent_p.F1118F|TRPM2_ENST00000397932.2_Silent_p.F1138F	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1138					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ACCGACAGTTCCAGCAAAAGC	0.612																																						uc002zet.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(3412-3414)TTC>TTT		transient receptor potential cation channel,		C		0,4406		0,0,2203	136.0	139.0	138.0		3414	3.9	0.2	21		138	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRPM2	NM_003307.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1138/1504	45838391	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45838391C>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3414C>T	21.37:g.45838391C>T						TRPM2_uc002zeu.1_Silent_p.F1138F|TRPM2_uc002zew.1_Silent_p.F1138F|TRPM2_uc010gpt.1_Silent_p.F1138F|TRPM2_uc002zex.1_Silent_p.F924F|TRPM2_uc002zey.1_Silent_p.F651F|uc011afe.1_Intron	p.F1138F	NM_003307	NP_003298	O94759	TRPM2_HUMAN			23	3627	+			1138			Cytoplasmic (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	c.3414C>T	CCDS13710.1																																																																																				0.612	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		37	140	0	0	0	0	37	140				
IL17RA	23765	broad.mit.edu	37	22	17583169	17583169	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:17583169G>C	ENST00000319363.6	+	7	872	c.739G>C	c.(739-741)Gag>Cag	p.E247Q		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	247					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CAGTTGCTTTGAGCACATGCA	0.547																																						uc002zly.2		NA																	0				skin(2)	2						c.(739-741)GAG>CAG		interleukin 17A receptor precursor							203.0	190.0	194.0					22																	17583169		2203	4300	6503	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17583169G>C	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.739G>C	22.37:g.17583169G>C	ENSP00000320936:p.Glu247Gln					IL17RA_uc010gqt.2_Missense_Mutation_p.E247Q	p.E247Q	NM_014339	NP_055154	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	7	872	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	247			Extracellular (Potential).		O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.739G>C	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	G	8.516	0.867713	0.17250	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.06068	3.35	4.6	0.0771	0.14406	.	1.440100	0.04163	N	0.323319	T	0.03783	0.0107	N	0.15975	0.35	0.09310	N	1	B;B	0.17852	0.014;0.024	B;B	0.09377	0.003;0.004	T	0.42344	-0.9457	10	0.13470	T	0.59	-1.1074	4.4349	0.11545	0.3277:0.3205:0.3518:0.0	.	247;247	D3YTB4;Q96F46	.;I17RA_HUMAN	Q	247	ENSP00000320936:E247Q	ENSP00000320936:E247Q	E	+	1	0	IL17RA	15963169	0.001000	0.12720	0.000000	0.03702	0.055000	0.15305	-0.088000	0.11198	-0.050000	0.13356	0.462000	0.41574	GAG		0.547	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		56	145	0	0	0	0	56	145				
CECR6	27439	broad.mit.edu	37	22	17601079	17601079	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:17601079G>A	ENST00000331437.3	-	1	1064	c.939C>T	c.(937-939)ttC>ttT	p.F313F	AC006946.15_ENST00000441544.1_5'Flank|CECR6_ENST00000399875.1_Intron	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	313	Ala-rich.									haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		CCAGGTAGGCGAAGGCGAACT	0.736																																						uc002zmb.2		NA																	0					0						c.(937-939)TTC>TTT		cat eye syndrome chromosome region, candidate 6							48.0	40.0	43.0					22																	17601079		2201	4293	6494	SO:0001819	synonymous_variant	27439							g.chr22:17601079G>A	AF307451	CCDS13740.1, CCDS54494.1	22q11.2	2008-06-12			ENSG00000183307	ENSG00000183307			1844	protein-coding gene	gene with protein product						11381032	Standard	NM_031890		Approved		uc002zmb.2	Q9BXQ6	OTTHUMG00000030471	ENST00000331437.3:c.939C>T	22.37:g.17601079G>A						CECR6_uc002zma.2_Intron|uc002zmc.2_5'Flank	p.F313F	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN		Colorectal(9;0.221)	1	1135	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	313			Ala-rich.		A8MYY1	Silent	SNP	ENST00000331437.3	37	c.939C>T	CCDS13740.1																																																																																				0.736	CECR6-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075359.4	NM_031890		24	64	0	0	0	0	24	64				
HSCB	150274	broad.mit.edu	37	22	29141879	29141879	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:29141879G>A	ENST00000216027.3	+	4	516	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	HSCB_ENST00000398941.2_Intron|HSCB_ENST00000495977.1_3'UTR	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	151					iron-sulfur cluster assembly (GO:0016226)|protein folding (GO:0006457)|protein oligomerization (GO:0051259)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|lung(2)|skin(1)	4						AGAGATTCCTGAAAGGACAGA	0.378																																						uc003aea.2		NA																	0				kidney(1)	1						c.(451-453)GAA>AAA		J-type co-chaperone HSC20 precursor							60.0	63.0	62.0					22																	29141879		2203	4300	6503	SO:0001583	missense	150274				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding	g.chr22:29141879G>A	AY191719	CCDS13845.1	22q12.1	2013-09-12	2013-09-12		ENSG00000100209	ENSG00000100209		"""Heat shock proteins / DNAJ (HSP40)"""	28913	protein-coding gene	gene with protein product	"""DnaJ (Hsp40) homolog, subfamily C, member 20"""	608142	"""HscB iron-sulfur cluster co-chaperone homolog (E. coli)"""			12938016, 16952052	Standard	NM_172002		Approved	HSC20, DNAJC20, Jac1	uc003aea.3	Q8IWL3	OTTHUMG00000151092	ENST00000216027.3:c.451G>A	22.37:g.29141879G>A	ENSP00000216027:p.Glu151Lys						p.E151K	NM_172002	NP_741999	Q8IWL3	HSC20_HUMAN			4	492	+			151					Q9BWS7	Missense_Mutation	SNP	ENST00000216027.3	37	c.451G>A	CCDS13845.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952240	0.73787	.	.	ENSG00000100209	ENST00000216027	T	0.41400	1.0	5.79	4.78	0.61160	Heat shock cognate protein B, C-terminal oligomerisation (2);	0.104005	0.64402	N	0.000005	T	0.58192	0.2105	M	0.69185	2.1	0.80722	D	1	D	0.76494	0.999	D	0.65684	0.937	T	0.59757	-0.7394	10	0.51188	T	0.08	-11.2161	10.7829	0.46388	0.0865:0.0:0.9135:0.0	.	151	Q8IWL3	HSC20_HUMAN	K	151	ENSP00000216027:E151K	ENSP00000216027:E151K	E	+	1	0	HSCB	27471879	0.966000	0.33281	0.907000	0.35723	0.664000	0.39144	1.620000	0.36976	1.474000	0.48178	0.557000	0.71058	GAA		0.378	HSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321263.1	NM_172002		32	100	0	0	0	0	32	100				
DUSP18	150290	broad.mit.edu	37	22	31059444	31059444	+	Missense_Mutation	SNP	G	G	A	rs142285924		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:31059444G>A	ENST00000334679.3	-	2	1052	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C	DUSP18_ENST00000403268.1_3'UTR|DUSP18_ENST00000407308.1_Missense_Mutation_p.R183C|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000404885.1_Missense_Mutation_p.R183C	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	183					peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R183C(1)		large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						ATCATCAAACGGACTTCCTTC	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		19555	0.001		0.0	False		,,,				2504	0.0					uc003aiu.2		NA																	1	Substitution - Missense(1)		skin(1)		0						c.(547-549)CGT>TGT		dual specificity phosphatase 18		G	CYS/ARG	0,4406		0,0,2203	94.0	91.0	92.0		547	2.8	0.0	22	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DUSP18	NM_152511.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	183/189	31059444	1,13005	2203	4300	6503	SO:0001583	missense	150290					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:31059444G>A	AF461689	CCDS13883.1	22q12.1	2011-06-09				ENSG00000167065		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18484	protein-coding gene	gene with protein product		611446				12408986	Standard	NM_152511		Approved	DUSP20	uc003aiw.1	Q8NEJ0		ENST00000334679.3:c.547C>T	22.37:g.31059444G>A	ENSP00000333917:p.Arg183Cys					SLC35E4_uc003ait.2_Intron|DUSP18_uc010gwa.1_RNA|DUSP18_uc003aiw.1_Missense_Mutation_p.R183C	p.R183C	NM_152511	NP_689724	Q8NEJ0	DUS18_HUMAN			2	1048	-			183					B3KPA4	Missense_Mutation	SNP	ENST00000334679.3	37	c.547C>T	CCDS13883.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	6.048	0.377251	0.11466	0.0	1.16E-4	ENSG00000167065	ENST00000404885;ENST00000407308;ENST00000334679	T;T;T	0.03889	3.77;3.77;3.77	5.11	2.76	0.32466	.	0.266003	0.34067	N	0.004293	T	0.05502	0.0145	L	0.46741	1.465	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.26815	-1.0092	10	0.56958	D	0.05	.	9.6145	0.39683	0.0862:0.0:0.733:0.1808	.	183	Q8NEJ0	DUS18_HUMAN	C	183	ENSP00000385463:R183C;ENSP00000386063:R183C;ENSP00000333917:R183C	ENSP00000333917:R183C	R	-	1	0	DUSP18	29389444	0.002000	0.14202	0.004000	0.12327	0.815000	0.46073	0.946000	0.29069	1.140000	0.42260	0.655000	0.94253	CGT		0.468	DUSP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321400.1			16	79	0	0	0	0	16	79				
OSBP2	23762	broad.mit.edu	37	22	31091253	31091253	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:31091253C>T	ENST00000332585.6	+	1	461	c.357C>T	c.(355-357)ttC>ttT	p.F119F	OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000382310.3_Silent_p.F119F|OSBP2_ENST00000446658.2_Silent_p.F119F	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	119					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CTGGGCCCTTCACTAAGGCCG	0.682																																						uc003aiy.1		NA																	0				breast(1)|skin(1)	2						c.(355-357)TTC>TTT		oxysterol binding protein 2 isoform a							27.0	35.0	33.0					22																	31091253		2050	4183	6233	SO:0001819	synonymous_variant	23762				lipid transport	membrane	lipid binding	g.chr22:31091253C>T		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.357C>T	22.37:g.31091253C>T						OSBP2_uc011ala.1_Intron|OSBP2_uc010gwc.1_Intron|OSBP2_uc003aix.1_Silent_p.F119F|OSBP2_uc011alb.1_Silent_p.F119F|OSBP2_uc003aiz.1_Silent_p.F119F	p.F119F	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN			1	461	+			119					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Silent	SNP	ENST00000332585.6	37	c.357C>T	CCDS43002.1																																																																																				0.682	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		22	55	0	0	0	0	22	55				
PIK3IP1	113791	broad.mit.edu	37	22	31685563	31685563	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:31685563C>A	ENST00000215912.5	-	4	613	c.430G>T	c.(430-432)Gca>Tca	p.A144S	RP3-400N23.6_ENST00000440456.1_RNA|PIK3IP1_ENST00000441972.1_Missense_Mutation_p.A144S|PIK3IP1_ENST00000402249.3_Missense_Mutation_p.A144S|PIK3IP1_ENST00000487265.2_Missense_Mutation_p.A65S	NM_052880.4	NP_443112.2	Q96FE7	P3IP1_HUMAN	phosphoinositide-3-kinase interacting protein 1	144					negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase catalytic subunit binding (GO:0036313)			large_intestine(2)|lung(1)|ovary(1)	4						TGCACAGCTGCCGCCTCACTC	0.617																																						uc003akm.2		NA																	0				ovary(1)	1						c.(430-432)GCA>TCA		HGFL protein isoform 1							24.0	14.0	17.0					22																	31685563		2193	4286	6479	SO:0001583	missense	113791					integral to membrane		g.chr22:31685563C>A	BC011049	CCDS13893.1, CCDS46690.1	22q12.2	2007-04-13			ENSG00000100100	ENSG00000100100			24942	protein-coding gene	gene with protein product						12477932	Standard	NM_052880		Approved	HGFL, MGC17330	uc003akm.3	Q96FE7	OTTHUMG00000151256	ENST00000215912.5:c.430G>T	22.37:g.31685563C>A	ENSP00000215912:p.Ala144Ser					PIK3IP1_uc003akl.2_RNA|PIK3IP1_uc011alo.1_Missense_Mutation_p.A144S|PIK3IP1_uc003akn.2_Missense_Mutation_p.A124S|PIK3IP1_uc003ako.2_Missense_Mutation_p.A144S	p.A144S	NM_052880	NP_443112	Q96FE7	P3IP1_HUMAN			4	620	-			144			Extracellular (Potential).		B4DRR9|D1MEI0|O00318|Q49A94|Q86YW2|Q8NCJ9	Missense_Mutation	SNP	ENST00000215912.5	37	c.430G>T	CCDS13893.1	.	.	.	.	.	.	.	.	.	.	C	35	5.413245	0.96072	.	.	ENSG00000100100	ENST00000215912;ENST00000416925;ENST00000441972;ENST00000487265;ENST00000402249	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.49	5.49	0.81192	.	0.045054	0.85682	D	0.000000	T	0.68622	0.3021	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.83275	0.996;0.962;0.989;0.955	T	0.70410	-0.4879	10	0.66056	D	0.02	-13.0239	18.3693	0.90401	0.0:1.0:0.0:0.0	.	144;144;65;144	B4DRR9;Q96FE7-2;D1MEI0;Q96FE7	.;.;.;P3IP1_HUMAN	S	144;122;144;65;144	ENSP00000215912:A144S;ENSP00000415608:A144S;ENSP00000441361:A65S;ENSP00000385204:A144S	ENSP00000215912:A144S	A	-	1	0	PIK3IP1	30015563	1.000000	0.71417	0.129000	0.21949	0.849000	0.48306	5.218000	0.65257	2.591000	0.87537	0.655000	0.94253	GCA		0.617	PIK3IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321939.1	NM_052880		4	6	1	0	0.000602214	0.000614699	4	6				
SFI1	9814	broad.mit.edu	37	22	32014301	32014301	+	Splice_Site	SNP	T	T	A	rs111513493		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:32014301T>A	ENST00000400288.2	+	33	3731	c.3626T>A	c.(3625-3627)gTg>gAg	p.V1209E	SFI1_ENST00000443326.1_Splice_Site_p.V1127E|SFI1_ENST00000474741.1_3'UTR|PISD_ENST00000478893.1_5'Flank|SFI1_ENST00000540643.1_Splice_Site_p.V1154E|SFI1_ENST00000432498.1_Splice_Site_p.V1178E|SFI1_ENST00000400289.1_Splice_Site_p.V1127E|SFI1_ENST00000443011.1_Splice_Site_p.V1056E|SFI1_ENST00000414585.1_3'UTR	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	1209					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TGGCCCCAGGTGGAAATGCAG	0.701																																						uc003ale.2		NA																	0				central_nervous_system(1)	1						c.(3625-3627)GTG>GAG		spindle assembly associated Sfi1 homolog isoform							18.0	22.0	21.0					22																	32014301		1970	4151	6121	SO:0001630	splice_region_variant	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:32014301T>A	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.3625-1T>A	22.37:g.32014301T>A						SFI1_uc003alf.2_Missense_Mutation_p.V1178E|SFI1_uc003alg.2_Missense_Mutation_p.V1127E|SFI1_uc011alp.1_Missense_Mutation_p.V1115E|SFI1_uc011alq.1_Missense_Mutation_p.V1154E|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA|SFI1_uc003ali.2_Missense_Mutation_p.V301E|SFI1_uc003alj.2_Missense_Mutation_p.V343E	p.V1209E	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN			33	4019	+			1209					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	c.3626T>A	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.145066	0.57044	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000443011;ENST00000400289;ENST00000400288	T;T;T;T;T;T	0.12361	2.86;2.86;2.69;2.7;2.69;2.85	5.44	4.41	0.53225	.	0.423359	0.21916	N	0.067239	T	0.30324	0.0761	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.996;0.996;0.999;0.996	D;D;D;D;D;D;P	0.71870	0.975;0.919;0.928;0.917;0.936;0.945;0.883	T	0.02646	-1.1129	10	0.87932	D	0	.	7.2497	0.26142	0.0:0.0972:0.0:0.9028	.	1154;1115;1056;792;1127;1178;1209	A8K8P3-9;A8K8P3-10;D3YTJ2;B7ZBE1;A8K8P3-3;A8K8P3-2;A8K8P3	.;.;.;.;.;.;SFI1_HUMAN	E	1178;1154;1127;958;1056;1127;1209	ENSP00000402679:V1178E;ENSP00000443025:V1154E;ENSP00000416469:V1127E;ENSP00000401199:V1056E;ENSP00000383146:V1127E;ENSP00000383145:V1209E	ENSP00000383145:V1209E	V	+	2	0	SFI1	30344301	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	2.476000	0.45171	2.061000	0.61500	0.460000	0.39030	GTG		0.701	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775	Missense_Mutation	10	26	0	0	0	0	10	26				
MCM5	4174	broad.mit.edu	37	22	35817335	35817335	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:35817335C>T	ENST00000216122.4	+	15	2011	c.1857C>T	c.(1855-1857)atC>atT	p.I619I	MCM5_ENST00000382011.5_Silent_p.I576I	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	619					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TTGTGCGCATCGCGGAAGCCC	0.637																																						uc003anu.3		NA																	0				ovary(1)	1						c.(1855-1857)ATC>ATT		minichromosome maintenance complex component 5							58.0	54.0	55.0					22																	35817335		2203	4300	6503	SO:0001819	synonymous_variant	4174				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr22:35817335C>T		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.1857C>T	22.37:g.35817335C>T						MCM5_uc010gwr.2_Silent_p.I428I|MCM5_uc003anv.3_Silent_p.I576I|MCM5_uc003anw.1_Silent_p.I403I	p.I619I	NM_006739	NP_006730	P33992	MCM5_HUMAN			15	1951	+			619					O60785|Q14578|Q9BTJ4|Q9BWL8	Silent	SNP	ENST00000216122.4	37	c.1857C>T	CCDS13915.1																																																																																				0.637	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			30	73	0	0	0	0	30	73				
MYH9	4627	broad.mit.edu	37	22	36708220	36708220	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:36708220G>A	ENST00000216181.5	-	14	1832	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	534	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGCTTTGGGGAACCAGCACT	0.632			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2		NA		Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		0				breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(1600-1602)TTC>TTT		myosin, heavy polypeptide 9, non-muscle							102.0	85.0	91.0					22																	36708220		2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36708220G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1602C>T	22.37:g.36708220G>A						MYH9_uc003aph.1_Silent_p.F398F	p.F534F	NM_002473	NP_002464	P35579	MYH9_HUMAN			14	1833	-			534			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.1602C>T	CCDS13927.1																																																																																				0.632	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		36	111	0	0	0	0	36	111				
SSTR3	6753	broad.mit.edu	37	22	37603432	37603432	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:37603432C>G	ENST00000328544.3	-	2	944	c.411G>C	c.(409-411)atG>atC	p.M137I	SSTR3_ENST00000402501.1_Missense_Mutation_p.M137I	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	137					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	GGTCCACGCTCATGACAGTCA	0.667																																						uc003ara.2		NA																	0				lung(1)	1						c.(409-411)ATG>ATC		somatostatin receptor 3							104.0	94.0	97.0					22																	37603432		2203	4300	6503	SO:0001583	missense	6753				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37603432C>G		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.411G>C	22.37:g.37603432C>G	ENSP00000330138:p.Met137Ile					SSTR3_uc003arb.2_Missense_Mutation_p.M137I	p.M137I	NM_001051	NP_001042	P32745	SSR3_HUMAN			2	473	-			137			Helical; Name=3; (Potential).		A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	c.411G>C	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987141	0.74589	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.61158	0.13;0.13	5.83	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	0.140026	0.64402	D	0.000005	T	0.55561	0.1928	N	0.17838	0.53	0.53005	D	0.99996	P	0.52061	0.95	P	0.62184	0.899	T	0.57481	-0.7804	10	0.87932	D	0	.	7.0874	0.25266	0.1409:0.7191:0.0:0.1401	.	137	P32745	SSR3_HUMAN	I	137	ENSP00000330138:M137I;ENSP00000384904:M137I	ENSP00000330138:M137I	M	-	3	0	SSTR3	35933378	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.953000	0.63624	0.786000	0.33708	0.557000	0.71058	ATG		0.667	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			34	94	0	0	0	0	34	94				
CARD10	29775	broad.mit.edu	37	22	37888526	37888526	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:37888526G>A	ENST00000403299.1	-	19	2883	c.2667C>T	c.(2665-2667)tcC>tcT	p.S889S	CARD10_ENST00000406271.3_Silent_p.S603S|CARD10_ENST00000251973.5_Silent_p.S889S			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	889					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CAGGCGCTGAGGATGGGCACA	0.667																																						uc003asx.1		NA																	0				upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6						c.(2665-2667)TCC>TCT		caspase recruitment domain protein 10							33.0	41.0	38.0					22																	37888526		2202	4300	6502	SO:0001819	synonymous_variant	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37888526G>A	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.2667C>T	22.37:g.37888526G>A						CARD10_uc003ast.1_RNA|CARD10_uc003asu.1_5'UTR|CARD10_uc003asv.1_5'UTR|CARD10_uc011ank.1_Silent_p.S207S|CARD10_uc003asw.1_Silent_p.S603S|CARD10_uc003asy.1_Silent_p.S889S	p.S889S	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN			18	2670	-	Melanoma(58;0.0574)		889					Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Silent	SNP	ENST00000403299.1	37	c.2667C>T	CCDS13948.1																																																																																				0.667	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		21	49	0	0	0	0	21	49				
CSNK1E	1454	broad.mit.edu	37	22	38696025	38696026	+	Missense_Mutation	DNP	AT	AT	TG			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:38696025_38696026AT>TG	ENST00000396832.1	-	6	870_871	c.610_611AT>CA	c.(610-612)ATg>CAg	p.M204Q	CSNK1E_ENST00000359867.3_Missense_Mutation_p.M204Q|CSNK1E_ENST00000405675.3_Missense_Mutation_p.M204Q|CSNK1E_ENST00000413574.2_Missense_Mutation_p.M204Q|CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000403904.1_Missense_Mutation_p.M204Q|CSNK1E_ENST00000400206.2_Missense_Mutation_p.M204Q	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	204	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)					GTTGAAGTACATGAGCACGTAG	0.579																																					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.(610-612)ATG>CAG		casein kinase 1 epsilon																																				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.chr22:38696025_38696026AT>TG		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.610_611delinsTG	22.37:g.38696025_38696026delinsTG	ENSP00000380044:p.Met204Gln					CSNK1E_uc003avk.2_Missense_Mutation_p.M204Q|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Missense_Mutation_p.M204Q|CSNK1E_uc003avo.2_Missense_Mutation_p.M204Q|CSNK1E_uc003avp.1_Missense_Mutation_p.M204Q|CSNK1E_uc003avq.1_Missense_Mutation_p.M204Q	p.M204Q	NM_152221	NP_689407	P49674	KC1E_HUMAN			6	871_872	-	Melanoma(58;0.045)		204			Protein kinase.			Missense_Mutation	DNP	ENST00000396832.1	37	c.610_611AT>CA	CCDS13970.1																																																																																				0.579	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321462.1	NM_001894		29	89	0	0	0	0	29	89				
CACNA1I	8911	broad.mit.edu	37	22	40060842	40060842	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:40060842C>G	ENST00000402142.3	+	21	3765	c.3765C>G	c.(3763-3765)atC>atG	p.I1255M	CACNA1I_ENST00000400164.3_Missense_Mutation_p.I1220M|CACNA1I_ENST00000407673.1_Missense_Mutation_p.I1220M|CACNA1I_ENST00000404898.1_Missense_Mutation_p.I1220M|CACNA1I_ENST00000401624.1_Missense_Mutation_p.I1255M|CACNA1I_ENST00000336649.4_Missense_Mutation_p.I1261M	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1255					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	TCATCGACATCGTGGTGTCCC	0.642																																						uc003ayc.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(3763-3765)ATC>ATG		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						59.0	67.0	64.0					22																	40060842		2119	4226	6345	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40060842C>G	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3765C>G	22.37:g.40060842C>G	ENSP00000385019:p.Ile1255Met					CACNA1I_uc003ayd.2_Missense_Mutation_p.I1220M|CACNA1I_uc003aye.2_Missense_Mutation_p.I1170M|CACNA1I_uc003ayf.2_Missense_Mutation_p.I1135M	p.I1255M	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			21	3765	+	Melanoma(58;0.0749)		1255			Helical; Name=S3 of repeat III; (Potential).|III.		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.3765C>G	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.272748	0.59649	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03;-5.03;-5.03	4.3	-1.2	0.09554	Ion transport (1);	0.123833	0.53938	D	0.000051	D	0.97958	0.9328	L	0.54908	1.71	0.39904	D	0.973933	D;D;D;D	0.89917	1.0;1.0;1.0;0.991	D;D;D;D	0.91635	0.998;0.999;0.999;0.952	D	0.95471	0.8551	10	0.87932	D	0	.	4.0943	0.09983	0.1608:0.3254:0.0:0.5138	.	1220;1255;1220;1255	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	M	1255;1220;1255;1220;1261;1220	ENSP00000385019:I1255M;ENSP00000384093:I1220M;ENSP00000383887:I1255M;ENSP00000385680:I1220M;ENSP00000337829:I1261M;ENSP00000383028:I1220M	ENSP00000337829:I1261M	I	+	3	3	CACNA1I	38390788	0.249000	0.23941	0.991000	0.47740	0.798000	0.45092	-0.374000	0.07484	-0.034000	0.13713	0.462000	0.41574	ATC		0.642	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		11	61	0	0	0	0	11	61				
ST13	6767	broad.mit.edu	37	22	41226906	41226906	+	Missense_Mutation	SNP	C	C	T	rs148186652	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:41226906C>T	ENST00000216218.3	-	9	1217	c.736G>A	c.(736-738)Gag>Aag	p.E246K		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	246					chaperone cofactor-dependent protein refolding (GO:0070389)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	dATP binding (GO:0032564)|protein binding, bridging (GO:0030674)			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						TCTTTGATCTCTCGCTCTTCA	0.413																																						uc003aze.2		NA																	0					0						c.(736-738)GAG>AAG		heat shock 70kD protein binding protein		C	LYS/GLU	0,4406		0,0,2203	82.0	79.0	80.0		736	5.0	1.0	22	dbSNP_134	80	5,8589	4.3+/-15.6	0,5,4292	no	missense	ST13	NM_003932.3	56	0,5,6495	TT,TC,CC		0.0582,0.0,0.0385	possibly-damaging	246/370	41226906	5,12995	2203	4297	6500	SO:0001583	missense	6767						protein binding, bridging	g.chr22:41226906C>T		CCDS14006.1	22q13.2	2013-01-10	2001-11-29		ENSG00000100380	ENSG00000100380		"""Tetratricopeptide (TTC) repeat domain containing"""	11343	protein-coding gene	gene with protein product	"""progesterone receptor-associated p48 protein"""	606796	"""suppression of tumorigenicity 13 (colon carcinoma) (Hsp70-interacting protein)"""			9925927, 8721986	Standard	NM_003932		Approved	SNC6, HSPABP1, HIP, P48, FAM10A1	uc003aze.3	P50502	OTTHUMG00000151201	ENST00000216218.3:c.736G>A	22.37:g.41226906C>T	ENSP00000216218:p.Glu246Lys					ST13_uc011aow.1_Missense_Mutation_p.E236K	p.E246K	NM_003932	NP_003923	P50502	F10A1_HUMAN			9	879	-			246					O14999|Q2TU77	Missense_Mutation	SNP	ENST00000216218.3	37	c.736G>A	CCDS14006.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883289	0.91740	0.0	5.82E-4	ENSG00000100380	ENST00000216218	T	0.41065	1.01	5.02	5.02	0.67125	.	0.094927	0.64402	D	0.000001	T	0.43656	0.1257	L	0.40543	1.245	0.58432	D	0.999998	D;D	0.58268	0.982;0.982	P;P	0.48627	0.584;0.584	T	0.16867	-1.0388	10	0.24483	T	0.36	.	18.7044	0.91632	0.0:1.0:0.0:0.0	.	236;246	B4E0U6;P50502	.;F10A1_HUMAN	K	246	ENSP00000216218:E246K	ENSP00000216218:E246K	E	-	1	0	ST13	39556852	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.152000	0.64882	2.508000	0.84585	0.585000	0.79938	GAG		0.413	ST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321759.1	NM_003932		32	130	0	0	0	0	32	130				
PACSIN2	11252	broad.mit.edu	37	22	43287098	43287098	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:43287098G>T	ENST00000263246.3	-	4	509	c.308C>A	c.(307-309)tCa>tAa	p.S103*	PACSIN2_ENST00000407585.1_Nonsense_Mutation_p.S103*|PACSIN2_ENST00000402229.1_Nonsense_Mutation_p.S103*|PACSIN2_ENST00000403744.3_Nonsense_Mutation_p.S103*|PACSIN2_ENST00000337959.4_Nonsense_Mutation_p.S103*	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	103	F-BAR domain.				actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				GTTCATCAGTGAGGCCTTCAC	0.582																																						uc010gzg.2		NA																	0					0						c.(307-309)TCA>TAA		protein kinase C and casein kinase substrate in							80.0	79.0	79.0					22																	43287098		2164	4285	6449	SO:0001587	stop_gained	11252				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity	g.chr22:43287098G>T	AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"""syndapin II"""	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.308C>A	22.37:g.43287098G>T	ENSP00000263246:p.Ser103*					PACSIN2_uc003bdg.3_Nonsense_Mutation_p.S103*|PACSIN2_uc003bde.3_Nonsense_Mutation_p.S103*|PACSIN2_uc003bdf.3_Nonsense_Mutation_p.S103*	p.S103*	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN			4	530	-		Glioma(61;0.222)	103					O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Nonsense_Mutation	SNP	ENST00000263246.3	37	c.308C>A	CCDS43023.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239204	0.79800	.	.	ENSG00000100266	ENST00000263246;ENST00000337959;ENST00000407585;ENST00000403744;ENST00000402229;ENST00000453643;ENST00000418133;ENST00000422336	.	.	.	4.81	3.8	0.43715	.	0.288709	0.33075	N	0.005303	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-1.9695	13.2688	0.60150	0.0767:0.0:0.9233:0.0	.	.	.	.	X	103	.	ENSP00000263246:S103X	S	-	2	0	PACSIN2	41617042	0.007000	0.16637	0.941000	0.38009	0.491000	0.33493	1.615000	0.36922	1.402000	0.46780	0.542000	0.68232	TCA		0.582	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319665.1	NM_007229		20	83	1	0	1.64e-05	1.69e-05	20	83				
PLXNB2	23654	broad.mit.edu	37	22	50718104	50718104	+	Silent	SNP	G	G	C	rs149176335		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr22:50718104G>C	ENST00000449103.1	-	27	4484	c.4344C>G	c.(4342-4344)ctC>ctG	p.L1448L	PLXNB2_ENST00000359337.4_Silent_p.L1448L			O15031	PLXB2_HUMAN	plexin B2	1448					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGTGTCGTTGAGAGTGTACT	0.617																																						uc003bkv.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4342-4344)CTC>CTG		plexin B2 precursor							146.0	168.0	161.0					22																	50718104		2006	4130	6136	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50718104G>C		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4344C>G	22.37:g.50718104G>C						PLXNB2_uc003bkt.1_Silent_p.L240L|PLXNB2_uc003bku.1_Silent_p.L433L	p.L1448L	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	27	4450	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1448			Cytoplasmic (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.4344C>G	CCDS43035.1																																																																																				0.617	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		4	276	0	0	0	0	4	276				
SRGAP3	9901	broad.mit.edu	37	3	9074387	9074387	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:9074387G>A	ENST00000383836.3	-	12	1913	c.1486C>T	c.(1486-1488)Ctc>Ttc	p.L496F	SRGAP3_ENST00000360413.3_Intron|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	496	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TACACTGAGAGAGGCCTAGGT	0.468			T	RAF1	pilocytic astrocytoma																																	uc003brf.1		NA		Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(4)	0				central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9						c.(1486-1488)CTC>TTC		SLIT-ROBO Rho GTPase activating protein 3							77.0	82.0	80.0					3																	9074387		2203	4300	6503	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9074387G>A	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.1486C>T	3.37:g.9074387G>A	ENSP00000373347:p.Leu496Phe					SRGAP3_uc003brg.1_Intron|SRGAP3_uc003bri.1_RNA	p.L496F	NM_014850	NP_055665	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	12	2162	-			496			Rho-GAP.		Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.1486C>T	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212743	0.58452	.	.	ENSG00000196220	ENST00000383836	T	0.25414	1.8	5.46	5.46	0.80206	Rho GTPase-activating protein domain (1);	0.127647	0.52532	D	0.000066	T	0.16685	0.0401	N	0.08118	0	0.80722	D	1	P	0.37864	0.61	B	0.35550	0.205	T	0.09684	-1.0663	10	0.56958	D	0.05	.	18.9161	0.92506	0.0:0.0:1.0:0.0	.	496	O43295	SRGP2_HUMAN	F	496	ENSP00000373347:L496F	ENSP00000373347:L496F	L	-	1	0	SRGAP3	9049387	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.642000	0.74329	2.557000	0.86248	0.563000	0.77884	CTC		0.468	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			45	40	0	0	0	0	45	40				
BRPF1	7862	broad.mit.edu	37	3	9783766	9783766	+	Missense_Mutation	SNP	C	C	T	rs371562413		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:9783766C>T	ENST00000457855.1	+	5	1923	c.1912C>T	c.(1912-1914)Cgc>Tgc	p.R638C	BRPF1_ENST00000424362.1_Missense_Mutation_p.R638C|BRPF1_ENST00000302054.3_Missense_Mutation_p.R638C|BRPF1_ENST00000433861.2_Missense_Mutation_p.R638C|BRPF1_ENST00000383829.2_Missense_Mutation_p.R638C			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	638	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CATCCTCCTTCGCAAAACCTT	0.522																																						uc003bse.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1912-1914)CGC>TGC		bromodomain and PHD finger-containing protein 1		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	84.0	77.0	79.0		1912,1912	5.2	1.0	3		79	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BRPF1	NM_001003694.1,NM_004634.2	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	638/1221,638/1215	9783766	1,13005	2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9783766C>T	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1912C>T	3.37:g.9783766C>T	ENSP00000410210:p.Arg638Cys					BRPF1_uc003bsf.2_Missense_Mutation_p.R638C|BRPF1_uc003bsg.2_Missense_Mutation_p.R638C|BRPF1_uc011ati.1_Missense_Mutation_p.R638C	p.R638C	NM_004634	NP_004625	P55201	BRPF1_HUMAN			6	2311	+	Medulloblastoma(99;0.227)		638			Required for RUNX1 and RUNX2 transcriptional activation.|Interaction with MEAF6 and ING5.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.1912C>T	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150358	0.78001	0.0	1.16E-4	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.16	5.16	0.70880	Bromodomain (4);	0.000000	0.85682	D	0.000000	T	0.65606	0.2707	H	0.94582	3.555	0.80722	D	1	D;P;D;D	0.89917	1.0;0.921;0.963;1.0	D;P;P;D	0.81914	0.992;0.589;0.589;0.995	T	0.75187	-0.3406	10	0.72032	D	0.01	.	13.9345	0.64017	0.1519:0.8481:0.0:0.0	.	638;638;638;638	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	C	638	ENSP00000402485:R638C;ENSP00000398863:R638C;ENSP00000373340:R638C;ENSP00000306297:R638C;ENSP00000410210:R638C	ENSP00000306297:R638C	R	+	1	0	BRPF1	9758766	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.050000	0.49877	2.557000	0.86248	0.655000	0.94253	CGC		0.522	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		38	48	0	0	0	0	38	48				
TATDN2	9797	broad.mit.edu	37	3	10291085	10291085	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:10291085G>A	ENST00000287652.4	+	2	1252	c.201G>A	c.(199-201)cgG>cgA	p.R67R	RP11-438J1.1_ENST00000450534.1_Silent_p.R10R|TATDN2_ENST00000448281.2_Silent_p.R67R	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	67					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CTTGCTCGCGGAGGTTATCCT	0.652																																						uc003bvg.2		NA																	0				pancreas(2)	2						c.(199-201)CGG>CGA		TatD DNase domain containing 2							52.0	65.0	61.0					3																	10291085		2201	4296	6497	SO:0001819	synonymous_variant	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10291085G>A	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.201G>A	3.37:g.10291085G>A						TATDN2_uc003bvf.2_Silent_p.R67R|TATDN2_uc011atr.1_Silent_p.R67R|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA	p.R67R	NM_014760	NP_055575	Q93075	TATD2_HUMAN			2	782	+			67					Q3MIL9|Q5BKU0	Silent	SNP	ENST00000287652.4	37	c.201G>A	CCDS33698.1																																																																																				0.652	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		61	70	0	0	0	0	61	70				
PLCL2	23228	broad.mit.edu	37	3	17056235	17056235	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:17056235C>T	ENST00000418129.2	+	3	2937	c.2472C>T	c.(2470-2472)ctC>ctT	p.L824L	PLCL2_ENST00000432376.1_Silent_p.L824L|PLCL2_ENST00000396755.2_Silent_p.L824L	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	950	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TGTGTGGCCTCTCCTCTGTGG	0.488																																						uc011awc.1		NA																	0				skin(2)|ovary(1)|lung(1)	4						c.(2824-2826)CTC>CTT		phospholipase C-like 2 isoform 1							138.0	138.0	138.0					3																	17056235		2203	4300	6503	SO:0001819	synonymous_variant	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17056235C>T	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.2472C>T	3.37:g.17056235C>T						PLCL2_uc011awd.1_Silent_p.L824L	p.L942L	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN			6	2931	+			950					A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Silent	SNP	ENST00000418129.2	37	c.2826C>T	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	C	7.541	0.660702	0.14645	.	.	ENSG00000154822	ENST00000419842	.	.	.	5.16	-2.1	0.07210	.	.	.	.	.	T	0.58018	0.2093	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54689	-0.8256	4	.	.	.	.	11.8837	0.52589	0.0866:0.2992:0.5547:0.0595	.	.	.	.	F	568	.	.	S	+	2	0	PLCL2	17031239	0.923000	0.31300	0.968000	0.41197	0.837000	0.47467	-0.056000	0.11787	-0.581000	0.05937	-0.795000	0.03280	TCT		0.488	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			122	161	0	0	0	0	122	161				
CSRNP1	64651	broad.mit.edu	37	3	39184825	39184825	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:39184825G>C	ENST00000273153.5	-	5	1668	c.1491C>G	c.(1489-1491)ctC>ctG	p.L497L	CSRNP1_ENST00000514182.1_Silent_p.L497L	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	497					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						AAGACAAGCTGAGATCCACTG	0.552																																						uc003cjg.2		NA																	0				ovary(4)|skin(1)	5						c.(1489-1491)CTC>CTG		AXIN1 up-regulated 1							56.0	54.0	54.0					3																	39184825		2203	4300	6503	SO:0001819	synonymous_variant	64651				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:39184825G>C	AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.1491C>G	3.37:g.39184825G>C						CSRNP1_uc003cjh.2_Silent_p.L497L	p.L497L	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN			5	1705	-			497					Q69YY5	Silent	SNP	ENST00000273153.5	37	c.1491C>G	CCDS2682.1																																																																																				0.552	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1	NM_033027		28	33	0	0	0	0	28	33				
NBEAL2	23218	broad.mit.edu	37	3	47045664	47045664	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:47045664C>T	ENST00000450053.3	+	37	6158	c.5979C>T	c.(5977-5979)atC>atT	p.I1993I	NBEAL2_ENST00000292309.5_Silent_p.I1809I|NBEAL2_ENST00000383740.2_Silent_p.I272I	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1993					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCTTCTTTATCGATCAGGCCA	0.602																																						uc003cqp.2		NA																	0				ovary(1)	1						c.(5977-5979)ATC>ATT		neurobeachin-like 2							168.0	178.0	175.0					3																	47045664		2095	4209	6304	SO:0001819	synonymous_variant	23218						binding	g.chr3:47045664C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.5979C>T	3.37:g.47045664C>T						NBEAL2_uc010hjm.1_Silent_p.I1370I|NBEAL2_uc010hjn.1_Silent_p.I389I|NBEAL2_uc010hjo.1_5'Flank	p.I1993I	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	37	6158	+		Acute lymphoblastic leukemia(5;0.0534)	1993					O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.5979C>T	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.144|9.144	1.014518|1.014518	0.19277|0.19277	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000443829|ENST00000416683	.|.	.|.	.|.	4.92|4.92	-3.91|-3.91	0.04168|0.04168	.|.	.|.	.|.	.|.	.|.	.|T	.|0.62036	.|0.2395	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61510	.|-0.7048	.|4	.|.	.|.	.|.	.|.	13.0058|13.0058	0.58703|0.58703	0.0:0.4943:0.0:0.5057|0.0:0.4943:0.0:0.5057	.|.	.|.	.|.	.|.	X|L	362|1281	.|.	.|.	R|S	+|+	1|2	2|0	NBEAL2|NBEAL2	47020668|47020668	0.001000|0.001000	0.12720|0.12720	0.965000|0.965000	0.40720|0.40720	0.954000|0.954000	0.61252|0.61252	-1.730000|-1.730000	0.01855|0.01855	-0.645000|-0.645000	0.05458|0.05458	-0.258000|-0.258000	0.10820|0.10820	CGA|TCG		0.602	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		209	187	0	0	0	0	209	187				
USP19	10869	broad.mit.edu	37	3	49149116	49149116	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:49149116G>T	ENST00000398888.2	-	20	3043	c.2725C>A	c.(2725-2727)Cag>Aag	p.Q909K	USP19_ENST00000398898.2_Missense_Mutation_p.Q949K|USP19_ENST00000434032.2_Missense_Mutation_p.Q1010K|USP19_ENST00000398896.1_Missense_Mutation_p.Q717K|USP19_ENST00000453664.1_Missense_Mutation_p.Q1000K|USP19_ENST00000417901.1_Missense_Mutation_p.Q1012K|USP19_ENST00000398892.3_Missense_Mutation_p.Q949K	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	909	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCAGGTGGCTGAATGGGGTCT	0.672																																						uc003cwd.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.(2725-2727)CAG>AAG		ubiquitin thioesterase 19							34.0	37.0	36.0					3																	49149116		1995	4170	6165	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49149116G>T	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.2725C>A	3.37:g.49149116G>T	ENSP00000381863:p.Gln909Lys					USP19_uc003cwa.2_Missense_Mutation_p.Q717K|USP19_uc003cvz.3_Missense_Mutation_p.Q1012K|USP19_uc011bcg.1_Missense_Mutation_p.Q1000K|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.Q667K|USP19_uc011bch.1_Missense_Mutation_p.Q1010K	p.Q909K	NM_006677	NP_006668	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	20	2886	-			909			Cytoplasmic (Potential).		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.2725C>A	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	G	4.456	0.084379	0.08583	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.18810	2.2;2.19;2.29;2.29;2.19;2.29;2.28	5.94	5.02	0.67125	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.866877	0.10337	N	0.686746	T	0.19886	0.0478	N	0.24115	0.695	0.09310	N	1	P;P;B;B;B	0.36282	0.485;0.546;0.159;0.425;0.081	B;B;B;B;B	0.39027	0.173;0.288;0.038;0.233;0.053	T	0.17961	-1.0352	10	0.56958	D	0.05	-12.0235	14.6618	0.68876	0.0:0.1448:0.8551:0.0	.	1010;1000;909;949;717	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	K	717;949;1012;1000;949;909;1010	ENSP00000381870:Q717K;ENSP00000381872:Q949K;ENSP00000395260:Q1012K;ENSP00000400090:Q1000K;ENSP00000381867:Q949K;ENSP00000381863:Q909K;ENSP00000401197:Q1010K	ENSP00000381863:Q909K	Q	-	1	0	USP19	49124120	0.501000	0.26099	0.961000	0.40146	0.993000	0.82548	3.581000	0.53914	2.826000	0.97356	0.561000	0.74099	CAG		0.672	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		55	52	1	0	6.31e-27	6.77e-27	55	52				
NICN1	84276	broad.mit.edu	37	3	49466543	49466543	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:49466543C>T	ENST00000273598.3	-	1	216	c.130G>A	c.(130-132)Gag>Aag	p.E44K	NICN1_ENST00000422593.1_5'UTR|NICN1_ENST00000436744.2_Missense_Mutation_p.E44K	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	44						microtubule (GO:0005874)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTGCTCACCTCGAAGGGAGCG	0.647																																						uc003cwz.1		NA																	0					0						c.(130-132)GAG>AAG		nicolin 1							24.0	25.0	24.0					3																	49466543		2198	4292	6490	SO:0001583	missense	84276					microtubule|nucleus		g.chr3:49466543C>T	AJ299740	CCDS2798.1	3p21.31	2008-07-18			ENSG00000145029	ENSG00000145029			18317	protein-coding gene	gene with protein product		611516				12392556	Standard	NM_032316		Approved	MGC12936	uc003cwz.1	Q9BSH3	OTTHUMG00000156848	ENST00000273598.3:c.130G>A	3.37:g.49466543C>T	ENSP00000273598:p.Glu44Lys					NICN1_uc003cxa.2_RNA|NICN1_uc011bcr.1_Missense_Mutation_p.E44K	p.E44K	NM_032316	NP_115692	Q9BSH3	NICN1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	215	-			44					Q8IZQ2	Missense_Mutation	SNP	ENST00000273598.3	37	c.130G>A	CCDS2798.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590681	0.66219	.	.	ENSG00000145029	ENST00000273598;ENST00000430622;ENST00000436744	T;T	0.24538	1.85;1.85	5.74	2.92	0.33932	.	0.456163	0.24426	N	0.038627	T	0.16128	0.0388	L	0.29908	0.895	0.36401	D	0.863123	B;B	0.26400	0.148;0.148	B;B	0.25140	0.024;0.058	T	0.13656	-1.0501	10	0.27785	T	0.31	-3.7649	7.4097	0.27011	0.0:0.548:0.3631:0.0889	.	44;44	B4DX77;Q9BSH3	.;NICN1_HUMAN	K	44	ENSP00000273598:E44K;ENSP00000402335:E44K	ENSP00000273598:E44K	E	-	1	0	NICN1	49441547	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.183000	0.32041	0.741000	0.32674	-0.176000	0.13171	GAG		0.647	NICN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346224.3	NM_032316		24	35	0	0	0	0	24	35				
APEH	327	broad.mit.edu	37	3	49723345	49723345	+	IGR	SNP	G	G	A	rs551856412		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:49723345G>A	ENST00000296456.5	+	0	3220				AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Missense_Mutation_p.R400C|MST1_ENST00000494828.2_5'Flank	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACACCCTTGCGGGTCTTGCTG	0.731													G|||	1	0.000199681	0.0	0.0	5008	,	,		15451	0.0		0.0	False		,,,				2504	0.001					uc003cxg.2		NA																	0				lung(1)	1						c.(1198-1200)CGC>TGC		macrophage stimulating 1 (hepatocyte growth							34.0	33.0	33.0					3																	49723345		2189	4278	6467	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723345G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723345G>A						MST1_uc011bcs.1_Silent_p.P438P	p.R400C	NM_020998	NP_066278	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	1270	-			386			Kringle 4.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1198C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849740	0.91277	.	.	ENSG00000173531	ENST00000449682	T	0.67523	-0.27	5.24	5.24	0.73138	.	0.000000	0.42294	D	0.000724	D	0.87140	0.6103	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90058	0.4154	10	0.54805	T	0.06	.	18.4142	0.90563	0.0:0.0:1.0:0.0	.	400	G3XAK1	.	C	400	ENSP00000414287:R400C	ENSP00000414287:R400C	R	-	1	0	MST1	49698349	1.000000	0.71417	0.992000	0.48379	0.427000	0.31564	4.341000	0.59335	2.443000	0.82685	0.655000	0.94253	CGC		0.731	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			3	81	0	0	0	0	3	81				
MST1R	4486	broad.mit.edu	37	3	49927430	49927430	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:49927430C>G	ENST00000296474.3	-	19	3901	c.3874G>C	c.(3874-3876)Gac>Cac	p.D1292H	MST1R_ENST00000344206.4_Missense_Mutation_p.D1243H	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1292	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TCAAAAGGGTCAATGTGGCGG	0.597																																						uc003cxy.3		NA																	0				ovary(5)|lung(1)	6						c.(3874-3876)GAC>CAC		macrophage stimulating 1 receptor precursor							114.0	108.0	110.0					3																	49927430		2203	4300	6503	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49927430C>G	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3874G>C	3.37:g.49927430C>G	ENSP00000296474:p.Asp1292His					MST1R_uc011bdc.1_Missense_Mutation_p.D171H	p.D1292H	NM_002447	NP_002438	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	19	4138	-			1292			Cytoplasmic (Potential).|Protein kinase.		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.3874G>C	CCDS2807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.133139|4.133139	0.77662|0.77662	.|.	.|.	ENSG00000164078|ENSG00000164078	ENST00000296474;ENST00000344206|ENST00000434765	T;T|.	0.36520|.	1.25;1.25|.	5.82|5.82	4.04|4.04	0.47022|0.47022	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.081000|.	0.85682|.	D|.	0.000000|.	T|T	0.59959|0.59959	0.2232|0.2232	L|L	0.46741|0.46741	1.465|1.465	0.58432|0.58432	D|D	0.999998|0.999998	D|.	0.76494|.	0.999|.	P|.	0.62089|.	0.898|.	T|T	0.55341|0.55341	-0.8156|-0.8156	10|5	0.87932|.	D|.	0|.	-20.3717|-20.3717	13.7059|13.7059	0.62639|0.62639	0.0:0.9049:0.0:0.0951|0.0:0.9049:0.0:0.0951	.|.	1292|.	Q04912|.	RON_HUMAN|.	H|F	1292;1243|269	ENSP00000296474:D1292H;ENSP00000341325:D1243H|.	ENSP00000296474:D1292H|.	D|L	-|-	1|3	0|2	MST1R|MST1R	49902434|49902434	0.812000|0.812000	0.29077|0.29077	0.559000|0.559000	0.28332|0.28332	0.911000|0.911000	0.54048|0.54048	1.618000|1.618000	0.36954|0.36954	0.813000|0.813000	0.34350|0.34350	0.549000|0.549000	0.68633|0.68633	GAC|TTG		0.597	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			3	91	0	0	0	0	3	91				
RBM5	10181	broad.mit.edu	37	3	50145726	50145726	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:50145726C>G	ENST00000347869.3	+	14	1356	c.1181C>G	c.(1180-1182)tCa>tGa	p.S394*	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	394	Required for interaction with U2AF2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTGATGCATCATCTGCATCA	0.373																																						uc003cyg.2		NA																	0				lung(1)	1						c.(1180-1182)TCA>TGA		RNA binding motif protein 5							158.0	150.0	153.0					3																	50145726		2203	4300	6503	SO:0001587	stop_gained	10181				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	g.chr3:50145726C>G	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.1181C>G	3.37:g.50145726C>G	ENSP00000343054:p.Ser394*					RBM5_uc011bdj.1_Nonsense_Mutation_p.S338*|RBM5_uc011bdk.1_Nonsense_Mutation_p.S222*	p.S394*	NM_005778	NP_005769	P52756	RBM5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	14	1329	+			394			Required for interaction with U2AF2.		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Nonsense_Mutation	SNP	ENST00000347869.3	37	c.1181C>G	CCDS2810.1	.	.	.	.	.	.	.	.	.	.	C	37	6.018030	0.97205	.	.	ENSG00000003756	ENST00000347869;ENST00000543047;ENST00000544851	.	.	.	5.83	5.83	0.93111	.	0.855898	0.10558	N	0.660651	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-2.7403	18.2852	0.90112	0.0:1.0:0.0:0.0	.	.	.	.	X	394;393;84	.	ENSP00000343054:S394X	S	+	2	0	RBM5	50120730	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.504000	0.53347	2.762000	0.94881	0.655000	0.94253	TCA		0.373	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		61	85	0	0	0	0	61	85				
ALAS1	211	broad.mit.edu	37	3	52240616	52240616	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:52240616C>T	ENST00000394965.2	+	8	1374	c.1014C>T	c.(1012-1014)aaC>aaT	p.N338N	ALAS1_ENST00000310271.2_Silent_p.N338N|ALAS1_ENST00000469224.1_Silent_p.N338N|ALAS1_ENST00000484952.1_Silent_p.N338N	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	338					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	ATTCTGGGAACCATGCCTCCA	0.438																																						uc003dcy.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1012-1014)AAC>AAT		5-aminolevulinate synthase 1 precursor	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						209.0	185.0	193.0					3																	52240616		2203	4300	6503	SO:0001819	synonymous_variant	211				heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr3:52240616C>T	X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.1014C>T	3.37:g.52240616C>T						ALAS1_uc003dcz.1_Silent_p.N338N|ALAS1_uc011bec.1_Silent_p.N355N	p.N338N	NM_000688	NP_000679	P13196	HEM1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	8	1351	+			338						Silent	SNP	ENST00000394965.2	37	c.1014C>T	CCDS2847.1																																																																																				0.438	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			83	111	0	0	0	0	83	111				
CACNA1D	776	broad.mit.edu	37	3	53757550	53757550	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:53757550C>G	ENST00000350061.5	+	13	2267	c.1756C>G	c.(1756-1758)Ctt>Gtt	p.L586V	CACNA1D_ENST00000288139.4_Missense_Mutation_p.L606V|CACNA1D_ENST00000422281.2_Missense_Mutation_p.L586V	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	586					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTTCGTCTCTCTTTTCAACCG	0.478																																						uc003dgv.3		NA																	0				ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(1756-1758)CTT>GTT		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						284.0	260.0	269.0					3																	53757550		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53757550C>G	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1756C>G	3.37:g.53757550C>G	ENSP00000288133:p.Leu586Val					CACNA1D_uc003dgu.3_Missense_Mutation_p.L606V|CACNA1D_uc003dgy.3_Missense_Mutation_p.L586V|CACNA1D_uc003dgw.3_Missense_Mutation_p.L253V	p.L586V	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	13	1919	+			586			Helical; Name=S3 of repeat II; (Potential).|II.		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.1756C>G	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828290	0.90955	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37	6.07	6.07	0.98685	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.98289	0.9433	M	0.73753	2.245	0.80722	D	1	D;D;D;D	0.65815	0.975;0.975;0.995;0.969	P;P;D;P	0.64687	0.871;0.88;0.928;0.796	D	0.98459	1.0595	10	0.66056	D	0.02	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	586;279;586;606	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	V	586;606;586;279	ENSP00000288133:L586V;ENSP00000288139:L606V;ENSP00000409174:L586V;ENSP00000418014:L279V	ENSP00000288139:L606V	L	+	1	0	CACNA1D	53732590	1.000000	0.71417	0.962000	0.40283	0.995000	0.86356	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	CTT		0.478	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		12	273	0	0	0	0	12	273				
ATXN7	6314	broad.mit.edu	37	3	63982084	63982084	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:63982084G>A	ENST00000295900.6	+	12	3136	c.2586G>A	c.(2584-2586)gtG>gtA	p.V862V	ATXN7_ENST00000487717.1_Silent_p.V862V|ATXN7_ENST00000538065.1_Silent_p.V862V|ATXN7_ENST00000398590.3_Silent_p.V862V|ATXN7_ENST00000484332.1_Silent_p.V717V	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	862			V -> M (in dbSNP:rs3774729). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:9425224}.		cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TGCCAGCCGTGAACAATGTCC	0.502																																						uc003dlw.3		NA																	0					0						c.(2584-2586)GTG>GTA		ataxin 7 isoform a							65.0	69.0	67.0					3																	63982084		2129	4254	6383	SO:0001819	synonymous_variant	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63982084G>A	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.2586G>A	3.37:g.63982084G>A						ATXN7_uc003dlv.2_Silent_p.V862V|ATXN7_uc010hnv.2_Silent_p.V862V|ATXN7_uc011bfn.1_Silent_p.V717V	p.V862V	NM_000333	NP_000324	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	12	3139	+		Prostate(884;0.0181)	862					B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Silent	SNP	ENST00000295900.6	37	c.2586G>A	CCDS43102.1																																																																																				0.502	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		21	48	0	0	0	0	21	48				
IMPG2	50939	broad.mit.edu	37	3	100976587	100976587	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:100976587G>T	ENST00000193391.7	-	10	1126	c.939C>A	c.(937-939)ttC>ttA	p.F313L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	313	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CCTCACCATTGAAGGTAACTG	0.468																																						uc003duq.1		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(937-939)TTC>TTA		interphotoreceptor matrix proteoglycan 2							144.0	131.0	136.0					3																	100976587		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100976587G>T	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.939C>A	3.37:g.100976587G>T	ENSP00000193391:p.Phe313Leu					IMPG2_uc011bhe.1_Missense_Mutation_p.F176L	p.F313L	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			10	1142	-			313			Extracellular (Potential).|SEA 1.		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.939C>A	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.298032	0.40694	.	.	ENSG00000081148	ENST00000193391	T	0.55052	0.54	5.38	4.39	0.52855	SEA (2);	0.000000	0.85682	D	0.000000	T	0.55417	0.1919	M	0.68952	2.095	0.36136	D	0.846444	P;D	0.52996	0.905;0.957	P;P	0.52793	0.514;0.709	T	0.64516	-0.6389	10	0.45353	T	0.12	-10.4222	4.0222	0.09670	0.2632:0.0:0.7367:0.0	.	313;313	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	L	313	ENSP00000193391:F313L	ENSP00000193391:F313L	F	-	3	2	IMPG2	102459277	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	2.222000	0.42926	2.522000	0.85027	0.313000	0.20887	TTC		0.468	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			24	181	1	0	2.66e-16	2.82e-16	24	181				
BBX	56987	broad.mit.edu	37	3	107520004	107520004	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:107520004G>C	ENST00000325805.8	+	17	2901	c.2614G>C	c.(2614-2616)Gac>Cac	p.D872H	BBX_ENST00000406780.1_Missense_Mutation_p.D842H|BBX_ENST00000415149.2_Missense_Mutation_p.D842H|BBX_ENST00000416476.2_Missense_Mutation_p.M535I|BBX_ENST00000402543.1_Missense_Mutation_p.D822H			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	872					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AGACTGCAATGACAAATGCTC	0.507																																						uc010hpr.2		NA																	0				ovary(3)|skin(1)	4						c.(2614-2616)GAC>CAC		HMG-BOX transcription factor BBX isoform 1							103.0	102.0	102.0					3																	107520004		2203	4300	6503	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107520004G>C	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.2614G>C	3.37:g.107520004G>C	ENSP00000319974:p.Asp872His					BBX_uc003dwk.3_Missense_Mutation_p.D842H|BBX_uc003dwl.3_Missense_Mutation_p.M535I|BBX_uc003dwm.3_Missense_Mutation_p.D842H|BBX_uc003dwo.3_Missense_Mutation_p.M188I	p.D872H	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		17	2941	+			872					A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.2614G>C	CCDS46881.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.28|11.28	1.591702|1.591702	0.28357|0.28357	.|.	.|.	ENSG00000114439|ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000406780;ENST00000458347|ENST00000416476	D;D;D;D|D	0.97888|0.98649	-4.59;-4.58;-4.59;-4.59|-5.05	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	0.393768|.	0.32736|.	N|.	0.005708|.	D|D	0.96361|0.96361	0.8813|0.8813	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	0.99999|0.99999	P;D|B	0.61080|0.06786	0.954;0.989|0.001	P;P|B	0.60473|0.06405	0.553;0.875|0.002	D|D	0.91040|0.91040	0.4870|0.4870	10|9	0.87932|0.87932	D|D	0|0	-12.8881|-12.8881	14.1125|14.1125	0.65132|0.65132	0.0766:0.0:0.9234:0.0|0.0766:0.0:0.9234:0.0	.|.	872;842|535	Q8WY36;Q8WY36-2|A2RRM7	BBX_HUMAN;.|.	H|I	842;822;872;842;62|535	ENSP00000408358:D842H;ENSP00000385317:D822H;ENSP00000319974:D872H;ENSP00000385530:D842H|ENSP00000403860:M535I	ENSP00000319974:D872H|ENSP00000403860:M535I	D|M	+|+	1|3	0|0	BBX|BBX	109002694|109002694	1.000000|1.000000	0.71417|0.71417	0.232000|0.232000	0.24009|0.24009	0.105000|0.105000	0.19272|0.19272	4.638000|4.638000	0.61353|0.61353	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	GAC|ATG		0.507	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		60	83	0	0	0	0	60	83				
BBX	56987	broad.mit.edu	37	3	107520042	107520042	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:107520042G>C	ENST00000325805.8	+	17	2939	c.2652G>C	c.(2650-2652)cgG>cgC	p.R884R	BBX_ENST00000406780.1_Silent_p.R854R|BBX_ENST00000415149.2_Silent_p.R854R|BBX_ENST00000416476.2_Missense_Mutation_p.G548A|BBX_ENST00000402543.1_Silent_p.R834R			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	884					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GGGAGACGCGGAGCAGTACTC	0.527																																						uc010hpr.2		NA																	0				ovary(3)|skin(1)	4						c.(2650-2652)CGG>CGC		HMG-BOX transcription factor BBX isoform 1							91.0	88.0	89.0					3																	107520042		2203	4300	6503	SO:0001819	synonymous_variant	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107520042G>C	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.2652G>C	3.37:g.107520042G>C						BBX_uc003dwk.3_Silent_p.R854R|BBX_uc003dwl.3_Missense_Mutation_p.G548A|BBX_uc003dwm.3_Silent_p.R854R|BBX_uc003dwo.3_Missense_Mutation_p.G201A	p.R884R	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		17	2979	+			884					A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Silent	SNP	ENST00000325805.8	37	c.2652G>C	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.376843	0.42105	.	.	ENSG00000114439	ENST00000416476	D	0.99201	-5.55	6.02	2.93	0.34026	.	.	.	.	.	D	0.96703	0.8924	.	.	.	0.80722	D	1	B	0.12630	0.006	B	0.06405	0.002	D	0.94252	0.7494	8	0.87932	D	0	-6.7643	5.2844	0.15692	0.0823:0.1021:0.603:0.2126	.	548	A2RRM7	.	A	548	ENSP00000403860:G548A	ENSP00000403860:G548A	G	+	2	0	BBX	109002732	0.998000	0.40836	0.999000	0.59377	0.579000	0.36224	0.344000	0.19962	0.844000	0.35094	0.650000	0.86243	GGA		0.527	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		41	46	0	0	0	0	41	46				
DZIP3	9666	broad.mit.edu	37	3	108326985	108326985	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:108326985G>C	ENST00000361582.3	+	3	312	c.82G>C	c.(82-84)Gaa>Caa	p.E28Q	DZIP3_ENST00000463306.1_Missense_Mutation_p.E28Q	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	28					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GAATAAGCTAGAAAAATCATC	0.313																																						uc003dxd.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(82-84)GAA>CAA		DAZ interacting protein 3, zinc finger							103.0	111.0	108.0					3																	108326985		2203	4300	6503	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108326985G>C	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.82G>C	3.37:g.108326985G>C	ENSP00000355028:p.Glu28Gln					DZIP3_uc003dxf.1_Missense_Mutation_p.E28Q|DZIP3_uc011bhm.1_5'UTR|DZIP3_uc003dxe.1_Missense_Mutation_p.E28Q	p.E28Q	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			3	504	+			28			Potential.		B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.82G>C	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798918	0.31777	.	.	ENSG00000198919	ENST00000393969;ENST00000361582;ENST00000479138;ENST00000497905;ENST00000463306	T;T	0.20069	2.1;2.1	4.98	4.1	0.47936	.	0.408344	0.21049	N	0.081028	T	0.14874	0.0359	N	0.24115	0.695	0.09310	N	1	B	0.23058	0.079	B	0.28849	0.095	T	0.10590	-1.0623	10	0.56958	D	0.05	-1.6905	8.5937	0.33703	0.1013:0.0:0.8987:0.0	.	28	Q86Y13	DZIP3_HUMAN	Q	28	ENSP00000355028:E28Q;ENSP00000419981:E28Q	ENSP00000355028:E28Q	E	+	1	0	DZIP3	109809675	0.991000	0.36638	0.192000	0.23308	0.041000	0.13682	1.861000	0.39438	2.756000	0.94617	0.655000	0.94253	GAA		0.313	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		39	154	0	0	0	0	39	154				
DZIP3	9666	broad.mit.edu	37	3	108393015	108393015	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:108393015C>G	ENST00000361582.3	+	24	2910	c.2680C>G	c.(2680-2682)Cac>Gac	p.H894D	DZIP3_ENST00000463306.1_Missense_Mutation_p.H894D	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	894					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CAGGGTGACTCACATGGCAGC	0.408																																						uc003dxd.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2680-2682)CAC>GAC		DAZ interacting protein 3, zinc finger							135.0	133.0	134.0					3																	108393015		2203	4300	6503	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108393015C>G	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2680C>G	3.37:g.108393015C>G	ENSP00000355028:p.His894Asp					DZIP3_uc003dxf.1_Missense_Mutation_p.H894D|DZIP3_uc011bhm.1_Missense_Mutation_p.H345D	p.H894D	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			24	3102	+			894					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.2680C>G	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384886	0.25031	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	D;D	0.84370	-1.84;-1.84	4.56	2.56	0.30785	.	0.287231	0.25025	N	0.033734	T	0.75503	0.3858	L	0.44542	1.39	0.29963	N	0.819195	B;B	0.17038	0.02;0.001	B;B	0.14578	0.011;0.002	T	0.62091	-0.6927	10	0.12430	T	0.62	-0.4754	8.9805	0.35961	0.4323:0.5677:0.0:0.0	.	512;894	D3DN61;Q86Y13	.;DZIP3_HUMAN	D	894	ENSP00000355028:H894D;ENSP00000419981:H894D	ENSP00000355028:H894D	H	+	1	0	DZIP3	109875705	0.644000	0.27277	0.996000	0.52242	0.992000	0.81027	0.704000	0.25661	1.134000	0.42165	0.563000	0.77884	CAC		0.408	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		38	167	0	0	0	0	38	167				
MORC1	27136	broad.mit.edu	37	3	108746617	108746617	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:108746617A>T	ENST00000483760.1	-	17	1728	c.1685T>A	c.(1684-1686)cTg>cAg	p.L562Q	MORC1_ENST00000232603.5_Missense_Mutation_p.L562Q					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTGTTCTGCCAGTCTATTTTG	0.408																																						uc003dxl.2		NA																	0				ovary(3)|skin(3)|breast(2)	8						c.(1684-1686)CTG>CAG		MORC family CW-type zinc finger 1							197.0	185.0	189.0					3																	108746617		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108746617A>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1685T>A	3.37:g.108746617A>T	ENSP00000417282:p.Leu562Gln					MORC1_uc011bhn.1_Missense_Mutation_p.L562Q	p.L562Q	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			17	1772	-			562						Missense_Mutation	SNP	ENST00000483760.1	37	c.1685T>A		.	.	.	.	.	.	.	.	.	.	A	10.01	1.234237	0.22626	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.12984	2.63;2.93	5.61	3.26	0.37387	.	0.340863	0.21593	N	0.072076	T	0.21590	0.0520	L	0.36672	1.1	0.09310	N	1	D;P	0.76494	0.999;0.644	D;P	0.69307	0.963;0.846	T	0.04203	-1.0969	10	0.72032	D	0.01	-3.4165	5.7278	0.18022	0.7451:0.1706:0.0843:0.0	.	562;562	E7ERX1;Q86VD1	.;MORC1_HUMAN	Q	562	ENSP00000232603:L562Q;ENSP00000417282:L562Q	ENSP00000232603:L562Q	L	-	2	0	MORC1	110229307	0.035000	0.19736	0.005000	0.12908	0.149000	0.21700	2.133000	0.42093	0.573000	0.29400	-0.270000	0.10280	CTG		0.408	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			10	286	0	0	0	0	10	286				
MORC1	27136	broad.mit.edu	37	3	108812388	108812388	+	Splice_Site	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:108812388C>T	ENST00000483760.1	-	8	627	c.584G>A	c.(583-585)gGt>gAt	p.G195D	MORC1_ENST00000232603.5_Splice_Site_p.G195D					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CAGCAAAGTACCTGGTAGAAA	0.348																																						uc003dxl.2		NA																	0				ovary(3)|skin(3)|breast(2)	8						c.(583-585)GGT>GAT		MORC family CW-type zinc finger 1							83.0	84.0	84.0					3																	108812388		2203	4300	6503	SO:0001630	splice_region_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108812388C>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.584-1G>A	3.37:g.108812388C>T						MORC1_uc011bhn.1_Missense_Mutation_p.G195D	p.G195D	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			8	671	-			195						Missense_Mutation	SNP	ENST00000483760.1	37	c.584G>A		.	.	.	.	.	.	.	.	.	.	C	21.8	4.205477	0.79127	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	D;D	0.97553	-4.43;-4.43	5.19	5.19	0.71726	ATPase-like, ATP-binding domain (2);	0.136933	0.34223	N	0.004148	D	0.98767	0.9585	M	0.92880	3.355	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99470	1.0945	10	0.87932	D	0	.	16.2508	0.82485	0.0:1.0:0.0:0.0	.	195;195	E7ERX1;Q86VD1	.;MORC1_HUMAN	D	195	ENSP00000232603:G195D;ENSP00000417282:G195D	ENSP00000232603:G195D	G	-	2	0	MORC1	110295078	1.000000	0.71417	0.991000	0.47740	0.768000	0.43524	6.475000	0.73582	2.709000	0.92574	0.655000	0.94253	GGT		0.348	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1		Missense_Mutation	41	51	0	0	0	0	41	51				
SPICE1	152185	broad.mit.edu	37	3	113172409	113172409	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:113172409G>C	ENST00000295872.4	-	14	2305	c.2046C>G	c.(2044-2046)atC>atG	p.I682M		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	682					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TATGTGCCTTGATAGCTGAAT	0.418																																						uc003eag.3		NA																	0					0						c.(2044-2046)ATC>ATG		coiled-coil domain containing 52							150.0	146.0	148.0					3																	113172409		2203	4300	6503	SO:0001583	missense	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113172409G>C	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.2046C>G	3.37:g.113172409G>C	ENSP00000295872:p.Ile682Met					CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.I578M	p.I682M	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN			14	2337	-			682					D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	c.2046C>G	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	G	2.411	-0.335300	0.05278	.	.	ENSG00000163611	ENST00000295872	T	0.44482	0.92	5.64	-1.38	0.09027	.	0.512495	0.21144	N	0.079435	T	0.26122	0.0637	L	0.41824	1.3	0.25595	N	0.986653	B;B	0.32101	0.356;0.356	B;B	0.31290	0.127;0.127	T	0.14090	-1.0485	10	0.26408	T	0.33	-1.2945	6.2898	0.21053	0.2779:0.3584:0.3637:0.0	.	578;682	B3KX77;Q8N0Z3	.;SPICE_HUMAN	M	682	ENSP00000295872:I682M	ENSP00000295872:I682M	I	-	3	3	SPICE1	114655099	0.973000	0.33851	0.994000	0.49952	0.052000	0.14988	-0.131000	0.10482	-0.174000	0.10743	-2.851000	0.00103	ATC		0.418	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		114	155	0	0	0	0	114	155				
SIDT1	54847	broad.mit.edu	37	3	113286437	113286437	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:113286437C>T	ENST00000264852.4	+	3	1121	c.395C>T	c.(394-396)tCa>tTa	p.S132L	SIDT1_ENST00000393830.3_Missense_Mutation_p.S132L	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	132					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)	p.S132L(1)		breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TTATGTCCCTCAGAAGCAACC	0.473																																						uc003eak.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(394-396)TCA>TTA		SID1 transmembrane family, member 1 precursor							137.0	127.0	131.0					3																	113286437		2203	4300	6503	SO:0001583	missense	54847					integral to membrane		g.chr3:113286437C>T	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.395C>T	3.37:g.113286437C>T	ENSP00000264852:p.Ser132Leu					SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.S132L|SIDT1_uc011big.1_5'UTR	p.S132L	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN			3	1046	+			132			Extracellular (Potential).		Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.395C>T	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409892	0.42715	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.14516	2.5;2.5	6.17	5.3	0.74995	.	0.126684	0.36234	N	0.002719	T	0.08537	0.0212	N	0.14661	0.345	0.42222	D	0.991853	B	0.12630	0.006	B	0.09377	0.004	T	0.15694	-1.0428	10	0.09590	T	0.72	-2.6149	15.336	0.74255	0.0:0.9338:0.0:0.0662	.	132	Q9NXL6	SIDT1_HUMAN	L	132	ENSP00000264852:S132L;ENSP00000377416:S132L	ENSP00000264852:S132L	S	+	2	0	SIDT1	114769127	0.269000	0.24143	0.943000	0.38184	0.513000	0.34164	2.477000	0.45180	1.630000	0.50440	0.655000	0.94253	TCA		0.473	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		135	169	0	0	0	0	135	169				
TIMMDC1	51300	broad.mit.edu	37	3	119236098	119236098	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:119236098G>C	ENST00000494664.1	+	6	845	c.643G>C	c.(643-645)Gag>Cag	p.E215Q	TIMMDC1_ENST00000493694.1_Missense_Mutation_p.E81Q	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	215						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						GTACTCTGGTGAGACTGTTCA	0.468																																						uc003ecn.2		NA																	0					0						c.(643-645)GAG>CAG		hypothetical protein LOC51300							129.0	132.0	131.0					3																	119236098		2203	4300	6503	SO:0001583	missense	51300					integral to membrane|mitochondrial inner membrane	protein transporter activity	g.chr3:119236098G>C	AF210057	CCDS33831.1	3q13.33	2013-12-05	2011-07-05	2011-07-05	ENSG00000113845	ENSG00000113845			1321	protein-coding gene	gene with protein product		615534	"""chromosome 3 open reading frame 1"""	C3orf1		11092749	Standard	NM_016589		Approved	FLJ22597	uc003ecn.3	Q9NPL8	OTTHUMG00000159388	ENST00000494664.1:c.643G>C	3.37:g.119236098G>C	ENSP00000418803:p.Glu215Gln					C3orf1_uc003eco.2_RNA|C3orf1_uc003ecp.2_RNA	p.E215Q	NM_016589	NP_057673	Q9NPL8	TIDC1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	6	856	+			215					D3DN81|Q6IAJ7|Q6UWU6|Q9NPR3|Q9NPS5|Q9P0Y6	Missense_Mutation	SNP	ENST00000494664.1	37	c.643G>C	CCDS33831.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808960	0.50421	.	.	ENSG00000113845	ENST00000494664;ENST00000493694;ENST00000466984	T;T;T	0.64803	1.35;-0.12;0.87	5.28	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.68833	0.3044	M	0.79475	2.455	0.42300	D	0.992175	D	0.60160	0.987	P	0.52217	0.693	T	0.70204	-0.4936	10	0.38643	T	0.18	-10.0265	9.5636	0.39385	0.0942:0.0:0.9058:0.0	.	215	Q9NPL8	TIDC1_HUMAN	Q	215;81;130	ENSP00000418803:E215Q;ENSP00000419510:E81Q;ENSP00000420122:E130Q	ENSP00000420122:E130Q	E	+	1	0	TIMMDC1	120718788	1.000000	0.71417	0.972000	0.41901	0.256000	0.26092	4.906000	0.63293	1.453000	0.47775	0.563000	0.77884	GAG		0.468	TIMMDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355077.3	NM_016589		6	188	0	0	0	0	6	188				
PLA1A	51365	broad.mit.edu	37	3	119325723	119325723	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:119325723C>T	ENST00000273371.4	+	2	248	c.176C>T	c.(175-177)tCg>tTg	p.S59L	PLA1A_ENST00000495992.1_Missense_Mutation_p.S59L|PLA1A_ENST00000494440.1_Missense_Mutation_p.S43L|PLA1A_ENST00000488919.1_Intron	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	59					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTTGTCCCTTCGAATCCTAGC	0.507																																						uc003ecu.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(175-177)TCG>TTG		phospholipase A1 member A precursor							150.0	154.0	153.0					3																	119325723		2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119325723C>T	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.176C>T	3.37:g.119325723C>T	ENSP00000273371:p.Ser59Leu					PLA1A_uc003ecv.2_Missense_Mutation_p.S59L|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Intron	p.S59L	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN			2	215	+			59					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.176C>T	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	C	6.092	0.385290	0.11524	.	.	ENSG00000144837	ENST00000273371;ENST00000495992;ENST00000494440	D;D;D	0.91237	-2.81;-2.81;-2.81	5.04	-0.0642	0.13773	Lipase, N-terminal (1);	0.785269	0.12674	N	0.448515	T	0.81173	0.4767	N	0.25426	0.745	0.09310	N	1	B;B	0.12013	0.004;0.005	B;B	0.10450	0.003;0.005	T	0.68349	-0.5432	10	0.48119	T	0.1	0.0176	4.5984	0.12341	0.147:0.498:0.0:0.3549	.	59;59	Q53H76-3;Q53H76	.;PLA1A_HUMAN	L	59;59;43	ENSP00000273371:S59L;ENSP00000417326:S59L;ENSP00000418793:S43L	ENSP00000273371:S59L	S	+	2	0	PLA1A	120808413	0.010000	0.17322	0.010000	0.14722	0.267000	0.26476	0.134000	0.15932	0.071000	0.16664	0.655000	0.94253	TCG		0.507	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			68	364	0	0	0	0	68	364				
GSK3B	2932	broad.mit.edu	37	3	119624670	119624670	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:119624670C>T	ENST00000264235.8	-	7	1727	c.745G>A	c.(745-747)Gag>Aag	p.E249K	GSK3B_ENST00000316626.5_Missense_Mutation_p.E249K	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	249	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	AGTAACAGCTCAGCCAACACA	0.388																																						uc003edo.2		NA																	0				lung(2)	2						c.(745-747)GAG>AAG		glycogen synthase kinase 3 beta isoform 2	Lithium(DB01356)						230.0	238.0	236.0					3																	119624670		2203	4300	6503	SO:0001583	missense	2932				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding	g.chr3:119624670C>T	BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.745G>A	3.37:g.119624670C>T	ENSP00000264235:p.Glu249Lys					GSK3B_uc003edn.2_Missense_Mutation_p.E249K	p.E249K	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN		GBM - Glioblastoma multiforme(114;0.24)	7	1728	-			249			Protein kinase.		D3DN89|Q9BWH3|Q9UL47	Missense_Mutation	SNP	ENST00000264235.8	37	c.745G>A	CCDS54628.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745948	0.89663	.	.	ENSG00000082701	ENST00000264235;ENST00000316626	T;T	0.58797	0.31;0.31	4.99	4.09	0.47781	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.099819	0.64402	D	0.000002	T	0.79673	0.4486	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84504	0.0618	10	0.87932	D	0	-13.1527	14.3467	0.66672	0.1493:0.8507:0.0:0.0	.	249;249	P49841;P49841-2	GSK3B_HUMAN;.	K	249	ENSP00000264235:E249K;ENSP00000324806:E249K	ENSP00000264235:E249K	E	-	1	0	GSK3B	121107360	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.174000	0.77620	1.284000	0.44531	0.491000	0.48974	GAG		0.388	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258240.2			267	403	0	0	0	0	267	403				
FSTL1	11167	broad.mit.edu	37	3	120118774	120118774	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:120118774C>T	ENST00000295633.3	-	10	1194	c.838G>A	c.(838-840)Gag>Aag	p.E280K	FSTL1_ENST00000424703.2_Missense_Mutation_p.E245K	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	280	VWFC.				BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		ATCTCCTCCTCTGTCTGGGTC	0.542																																						uc003eds.2		NA																	0				central_nervous_system(1)	1						c.(838-840)GAG>AAG		follistatin-like 1 precursor							139.0	113.0	122.0					3																	120118774		2203	4300	6503	SO:0001583	missense	11167				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding	g.chr3:120118774C>T	U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"""EF-hand domain containing"""	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.838G>A	3.37:g.120118774C>T	ENSP00000295633:p.Glu280Lys					FSTL1_uc011bjh.1_Missense_Mutation_p.E245K	p.E280K	NM_007085	NP_009016	Q12841	FSTL1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	10	1013	-			280			VWFC.		A8K523|B4DTT5|D3DN90|Q549Z0	Missense_Mutation	SNP	ENST00000295633.3	37	c.838G>A	CCDS2998.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722895	0.89298	.	.	ENSG00000163430	ENST00000295633;ENST00000539471;ENST00000424703	T;T	0.28454	2.36;1.61	5.46	5.46	0.80206	.	0.190818	0.56097	D	0.000037	T	0.55689	0.1936	M	0.68593	2.085	0.58432	D	0.999999	P;D	0.63880	0.799;0.993	B;D	0.72625	0.272;0.978	T	0.56294	-0.8003	10	0.72032	D	0.01	-27.9841	18.2424	0.89971	0.0:1.0:0.0:0.0	.	245;280	B4DTT5;Q12841	.;FSTL1_HUMAN	K	280;223;245	ENSP00000295633:E280K;ENSP00000394355:E245K	ENSP00000295633:E280K	E	-	1	0	FSTL1	121601464	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	4.854000	0.62918	2.722000	0.93159	0.650000	0.86243	GAG		0.542	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355399.1	NM_007085		11	20	0	0	0	0	11	20				
PARP14	54625	broad.mit.edu	37	3	122447299	122447299	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:122447299C>T	ENST00000474629.2	+	17	5527	c.5261C>T	c.(5260-5262)tCa>tTa	p.S1754L		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1754	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GGAAATCATTCATTAATTGTG	0.388																																						uc003efq.3		NA																	0				ovary(2)|breast(2)|lung(1)|pancreas(1)	6						c.(5260-5262)TCA>TTA		poly (ADP-ribose) polymerase family, member 14							155.0	150.0	151.0					3																	122447299		1956	4177	6133	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122447299C>T	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.5261C>T	3.37:g.122447299C>T	ENSP00000418194:p.Ser1754Leu					PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.S1471L	p.S1754L	NM_017554	NP_060024	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	17	5320	+			1754			PARP catalytic.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.5261C>T	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287958	0.23478	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.16457	2.34	5.71	2.74	0.32292	Poly(ADP-ribose) polymerase, catalytic domain (2);	1.056020	0.07421	N	0.894018	T	0.19565	0.0470	M	0.65498	2.005	0.09310	N	1	P	0.45126	0.851	B	0.37239	0.244	T	0.21930	-1.0231	10	0.46703	T	0.11	.	9.3959	0.38401	0.2311:0.399:0.3699:0.0	.	1754	Q460N5	PAR14_HUMAN	L	1754;1673;750	ENSP00000418194:S1754L	ENSP00000381224:S750L	S	+	2	0	PARP14	123929989	0.001000	0.12720	0.001000	0.08648	0.170000	0.22686	1.344000	0.33941	0.859000	0.35456	0.655000	0.94253	TCA		0.388	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		51	200	0	0	0	0	51	200				
SEMA5B	54437	broad.mit.edu	37	3	122631079	122631079	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:122631079C>G	ENST00000357599.3	-	19	3222	c.2836G>C	c.(2836-2838)Gag>Cag	p.E946Q	SEMA5B_ENST00000451055.2_Missense_Mutation_p.E1000Q|SEMA5B_ENST00000195173.4_Missense_Mutation_p.E945Q	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	946	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CAGATGTCCTCACCTGGGGAG	0.632																																						uc003efz.1		NA																	0				ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(2836-2838)GAG>CAG		semaphorin 5B isoform 1							62.0	52.0	56.0					3																	122631079		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122631079C>G	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.2836G>C	3.37:g.122631079C>G	ENSP00000350215:p.Glu946Gln					SEMA5B_uc011bju.1_Missense_Mutation_p.E852Q|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.E946Q|SEMA5B_uc003efy.1_Intron	p.E946Q	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	19	3140	-			946			Extracellular (Potential).|TSP type-1 4.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.2836G>C	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223409	0.58668	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	4.69	4.69	0.59074	.	0.127367	0.52532	D	0.000068	T	0.49745	0.1575	N	0.16201	0.385	0.50171	D	0.999855	P;B	0.50369	0.934;0.408	P;B	0.49387	0.609;0.251	T	0.50684	-0.8799	10	0.33940	T	0.23	.	16.7831	0.85567	0.0:1.0:0.0:0.0	.	852;946	D3YTI7;Q9P283	.;SEM5B_HUMAN	Q	946;945;852;1000;946	ENSP00000350215:E946Q;ENSP00000195173:E945Q;ENSP00000389588:E1000Q;ENSP00000377208:E946Q	ENSP00000195173:E945Q	E	-	1	0	SEMA5B	124113769	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	5.915000	0.69973	2.435000	0.82474	0.609000	0.83330	GAG		0.632	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		24	22	0	0	0	0	24	22				
HEG1	57493	broad.mit.edu	37	3	124732246	124732246	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:124732246G>C	ENST00000311127.4	-	6	2244	c.2177C>G	c.(2176-2178)tCt>tGt	p.S726C	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	726	Ser-rich.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GGCAGATGTAGATGTCGTTAA	0.502																																						uc003ehs.3		NA																	0				ovary(2)	2						c.(2176-2178)TCT>TGT		HEG homolog 1 precursor							211.0	212.0	212.0					3																	124732246		2065	4207	6272	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124732246G>C	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.2177C>G	3.37:g.124732246G>C	ENSP00000311502:p.Ser726Cys					HEG1_uc011bke.1_Missense_Mutation_p.S826C	p.S726C	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN			6	2245	-			726			Extracellular (Potential).|Ser-rich.		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.2177C>G	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042132	0.55003	.	.	ENSG00000173706	ENST00000311127	D	0.89552	-2.53	5.41	3.62	0.41486	.	0.204186	0.24206	U	0.040572	D	0.92057	0.7483	M	0.66939	2.045	0.09310	N	1	D;D	0.76494	0.999;0.999	D;P	0.66847	0.947;0.887	D	0.84578	0.0659	10	0.59425	D	0.04	.	9.5191	0.39124	0.1608:0.0:0.8392:0.0	.	726;726	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	C	726	ENSP00000311502:S726C	ENSP00000311502:S726C	S	-	2	0	HEG1	126214936	0.861000	0.29849	0.001000	0.08648	0.133000	0.20885	3.629000	0.54266	0.848000	0.35191	0.561000	0.74099	TCT		0.502	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		42	176	0	0	0	0	42	176				
ZNF148	7707	broad.mit.edu	37	3	124951513	124951513	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:124951513G>C	ENST00000360647.4	-	9	2542	c.2057C>G	c.(2056-2058)tCa>tGa	p.S686*	ZNF148_ENST00000485866.1_Nonsense_Mutation_p.S686*|ZNF148_ENST00000484491.1_Nonsense_Mutation_p.S686*|ZNF148_ENST00000492394.1_Nonsense_Mutation_p.S686*|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000497929.1_5'UTR	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	686					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						AAAGGGAAATGAGTGCTGTGA	0.448																																						uc003ehx.3		NA																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(2056-2058)TCA>TGA		zinc finger protein 148							180.0	161.0	168.0					3																	124951513		2203	4300	6503	SO:0001587	stop_gained	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124951513G>C	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.2057C>G	3.37:g.124951513G>C	ENSP00000353863:p.Ser686*					SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Nonsense_Mutation_p.S686*|ZNF148_uc010hsa.2_Nonsense_Mutation_p.S686*|ZNF148_uc003eia.3_Nonsense_Mutation_p.S686*|ZNF148_uc003ehy.2_Intron	p.S686*	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN			9	2543	-			686					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Nonsense_Mutation	SNP	ENST00000360647.4	37	c.2057C>G	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	G	41	8.831097	0.98970	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866	.	.	.	5.14	4.27	0.50696	.	0.434000	0.25607	N	0.029520	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-0.5834	8.5557	0.33480	0.0768:0.0:0.7711:0.1521	.	.	.	.	X	686	.	ENSP00000353863:S686X	S	-	2	0	ZNF148	126434203	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.298000	0.78815	1.390000	0.46547	0.591000	0.81541	TCA		0.448	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		71	282	0	0	0	0	71	282				
COL6A6	131873	broad.mit.edu	37	3	130281985	130281985	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:130281985G>A	ENST00000358511.6	+	2	169	c.138G>A	c.(136-138)gtG>gtA	p.V46V	COL6A6_ENST00000453409.2_Silent_p.V46V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	46	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCCCATTTGTGAAAATGTTCA	0.473																																						uc010htl.2		NA																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(136-138)GTG>GTA		collagen type VI alpha 6 precursor							173.0	164.0	167.0					3																	130281985		1939	4128	6067	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130281985G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.138G>A	3.37:g.130281985G>A							p.V46V	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			2	169	+			46			Nonhelical region.|VWFA 1.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.138G>A	CCDS46911.1																																																																																				0.473	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		5	343	0	0	0	0	5	343				
ATP2C1	27032	broad.mit.edu	37	3	130686024	130686024	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:130686024G>C	ENST00000510168.1	+	15	1708	c.1158G>C	c.(1156-1158)gtG>gtC	p.V386V	ATP2C1_ENST00000359644.3_Silent_p.V386V|ATP2C1_ENST00000533801.2_Silent_p.V381V|ATP2C1_ENST00000508532.1_Silent_p.V386V|ATP2C1_ENST00000328560.8_Silent_p.V386V|ATP2C1_ENST00000507488.2_Silent_p.V370V|ATP2C1_ENST00000504948.1_Silent_p.V370V|ATP2C1_ENST00000422190.2_Silent_p.V386V|ATP2C1_ENST00000428331.2_Silent_p.V386V|ATP2C1_ENST00000504381.1_Silent_p.V331V|ATP2C1_ENST00000393221.4_Silent_p.V420V|ATP2C1_ENST00000505330.1_Silent_p.V370V|ATP2C1_ENST00000513801.1_Silent_p.V370V			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	386					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTGGGGAAGTGATTGTTGATG	0.358									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	uc003enl.2		NA																	0				skin(1)	1						c.(1156-1158)GTG>GTC		calcium-transporting ATPase 2C1 isoform 1a	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						274.0	277.0	276.0					3																	130686024		2203	4300	6503	SO:0001819	synonymous_variant	27032	Hailey-Hailey_disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130686024G>C	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.1158G>C	3.37:g.130686024G>C						ATP2C1_uc011blg.1_Silent_p.V420V|ATP2C1_uc011blh.1_Silent_p.V381V|ATP2C1_uc011bli.1_Silent_p.V420V|ATP2C1_uc003enk.2_Silent_p.V370V|ATP2C1_uc003enm.2_Silent_p.V386V|ATP2C1_uc003enn.2_Silent_p.V370V|ATP2C1_uc003eno.2_Silent_p.V386V|ATP2C1_uc003enp.2_Silent_p.V386V|ATP2C1_uc003enq.2_Silent_p.V386V|ATP2C1_uc003enr.2_Silent_p.V386V|ATP2C1_uc003ens.2_Silent_p.V386V|ATP2C1_uc003ent.2_Silent_p.V386V|ATP2C1_uc003enu.2_Silent_p.V64V	p.V386V	NM_014382	NP_055197	P98194	AT2C1_HUMAN			15	1380	+			386			Cytoplasmic (By similarity).		B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Silent	SNP	ENST00000510168.1	37	c.1158G>C	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	G	8.114	0.779465	0.16120	.	.	ENSG00000017260	ENST00000504612	.	.	.	5.4	1.43	0.22495	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.6905	0.05119	0.2078:0.2113:0.468:0.1129	.	.	.	.	S	340	.	.	X	+	2	2	ATP2C1	132168714	0.040000	0.19996	0.999000	0.59377	0.994000	0.84299	-0.543000	0.06084	0.671000	0.31185	0.585000	0.79938	TGA		0.358	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		99	495	0	0	0	0	99	495				
CPNE4	131034	broad.mit.edu	37	3	131404721	131404721	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:131404721C>T	ENST00000512055.1	-	10	2715	c.589G>A	c.(589-591)Gag>Aag	p.E197K	CPNE4_ENST00000429747.1_Missense_Mutation_p.E197K|CPNE4_ENST00000511604.1_Missense_Mutation_p.E197K|CPNE4_ENST00000512332.1_Missense_Mutation_p.E215K|CPNE4_ENST00000502818.1_Missense_Mutation_p.E215K			Q96A23	CPNE4_HUMAN	copine IV	197	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						ACTCTTACCTCAGTTCGGTGC	0.388																																						uc003eok.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(589-591)GAG>AAG		copine IV							82.0	75.0	77.0					3																	131404721		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131404721C>T	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.589G>A	3.37:g.131404721C>T	ENSP00000421705:p.Glu197Lys					CPNE4_uc011blq.1_Missense_Mutation_p.E215K|CPNE4_uc003eol.2_Missense_Mutation_p.E215K|CPNE4_uc003eom.2_Missense_Mutation_p.E197K	p.E197K	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN			6	1024	-			197			C2 2.		D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.589G>A	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	C	32	5.131653	0.94473	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.81	5.81	0.92471	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.046605	0.85682	D	0.000000	T	0.79021	0.4376	L	0.51422	1.61	0.80722	D	1	P;D	0.64830	0.935;0.994	P;D	0.68765	0.547;0.96	T	0.79465	-0.1792	10	0.87932	D	0	-36.3042	19.7406	0.96230	0.0:1.0:0.0:0.0	.	215;197	Q96A23-2;Q96A23	.;CPNE4_HUMAN	K	197;197;215;197;215	ENSP00000421705:E197K;ENSP00000411904:E197K;ENSP00000424853:E215K;ENSP00000423811:E197K;ENSP00000421646:E215K	ENSP00000411904:E197K	E	-	1	0	CPNE4	132887411	1.000000	0.71417	0.999000	0.59377	0.897000	0.52465	6.688000	0.74557	2.767000	0.95098	0.638000	0.83543	GAG		0.388	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		15	85	0	0	0	0	15	85				
ESYT3	83850	broad.mit.edu	37	3	138178802	138178802	+	Missense_Mutation	SNP	C	C	T	rs62282904		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:138178802C>T	ENST00000389567.4	+	6	850	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	ESYT3_ENST00000289135.4_Missense_Mutation_p.R222W	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	222	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GGGCACCCTGCGGGTCATCCT	0.632																																						uc003esk.2		NA																	0					0						c.(664-666)CGG>TGG		family with sequence similarity 62 (C2 domain							57.0	59.0	58.0					3																	138178802		2203	4300	6503	SO:0001583	missense	83850					integral to membrane|plasma membrane		g.chr3:138178802C>T	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.664C>T	3.37:g.138178802C>T	ENSP00000374218:p.Arg222Trp					ESYT3_uc010hug.2_RNA	p.R222W	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN			6	890	+			222					A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	c.664C>T	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617400	0.46736	.	.	ENSG00000158220	ENST00000389567;ENST00000289135	D;D	0.82619	-1.63;-1.63	5.23	4.35	0.52113	.	0.000000	0.85682	D	0.000000	D	0.82356	0.5019	M	0.80422	2.495	0.48975	D	0.999738	B	0.28801	0.223	B	0.15870	0.014	T	0.81854	-0.0741	10	0.87932	D	0	-14.9075	13.7301	0.62783	0.0:0.8447:0.1553:0.0	rs62282904	222	A0FGR9	ESYT3_HUMAN	W	222	ENSP00000374218:R222W;ENSP00000289135:R222W	ENSP00000289135:R222W	R	+	1	2	ESYT3	139661492	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	1.296000	0.33389	1.167000	0.42706	0.542000	0.68232	CGG		0.632	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		53	148	0	0	0	0	53	148				
XRN1	54464	broad.mit.edu	37	3	142151555	142151555	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:142151555C>G	ENST00000264951.4	-	2	373	c.256G>C	c.(256-258)Gat>Cat	p.D86H	XRN1_ENST00000463916.1_Missense_Mutation_p.D86H|XRN1_ENST00000544157.1_5'UTR|XRN1_ENST00000392981.2_Missense_Mutation_p.D86H|XRN1_ENST00000465074.1_5'Flank	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	86					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GCCACACCATCTACAGCCATA	0.348																																						uc003eus.2		NA																	0				ovary(3)	3						c.(256-258)GAT>CAT		5'-3' exoribonuclease 1 isoform a							45.0	43.0	44.0					3																	142151555		2203	4300	6503	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142151555C>G	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.256G>C	3.37:g.142151555C>G	ENSP00000264951:p.Asp86His					XRN1_uc003eut.2_Missense_Mutation_p.D86H|XRN1_uc003euu.2_Missense_Mutation_p.D86H|XRN1_uc003euw.2_Missense_Mutation_p.D86H|XRN1_uc011bnh.1_5'UTR	p.D86H	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN			2	323	-			86					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.256G>C	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512412	0.64522	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916	T;T	0.73681	-0.77;-0.77	5.94	5.94	0.96194	Putative 5-3 exonuclease (1);	0.000000	0.85682	D	0.000000	D	0.92489	0.7615	H	0.98525	4.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94611	0.7804	10	0.87932	D	0	-20.7943	20.3591	0.98849	0.0:1.0:0.0:0.0	.	86;86;86	Q8IZH2-3;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	H	86	ENSP00000264951:D86H;ENSP00000376707:D86H	ENSP00000264951:D86H	D	-	1	0	XRN1	143634245	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	7.712000	0.84684	2.816000	0.96949	0.561000	0.74099	GAT		0.348	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		25	47	0	0	0	0	25	47				
PAQR9	344838	broad.mit.edu	37	3	142681653	142681653	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:142681653G>C	ENST00000340634.3	-	1	525	c.526C>G	c.(526-528)Ctg>Gtg	p.L176V	RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	176						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CCTGGCAACAGGTAGTAGTAG	0.622																																						uc003evg.2		NA																	0					0						c.(526-528)CTG>GTG		progestin and adipoQ receptor family member IX							33.0	31.0	32.0					3																	142681653		2203	4300	6503	SO:0001583	missense	344838					integral to membrane	receptor activity	g.chr3:142681653G>C	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.526C>G	3.37:g.142681653G>C	ENSP00000341564:p.Leu176Val					PAQR9_uc003evf.1_5'Flank	p.L176V	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN			1	526	-			176			Helical; (Potential).		Q147T6	Missense_Mutation	SNP	ENST00000340634.3	37	c.526C>G	CCDS3128.1	.	.	.	.	.	.	.	.	.	.	G	2.863	-0.235609	0.05944	.	.	ENSG00000188582	ENST00000340634	T	0.30182	1.54	4.93	-0.26	0.12967	.	0.296103	0.27891	N	0.017439	T	0.15219	0.0367	N	0.13140	0.3	0.31001	N	0.720305	B	0.20988	0.05	B	0.28385	0.089	T	0.17258	-1.0375	10	0.26408	T	0.33	-16.2429	6.5062	0.22196	0.1327:0.0:0.5058:0.3615	.	176	Q6ZVX9	PAQR9_HUMAN	V	176	ENSP00000341564:L176V	ENSP00000341564:L176V	L	-	1	2	PAQR9	144164343	1.000000	0.71417	0.990000	0.47175	0.810000	0.45777	5.420000	0.66441	-0.291000	0.09012	0.561000	0.74099	CTG		0.622	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504		4	45	0	0	0	0	4	45				
PLOD2	5352	broad.mit.edu	37	3	145804659	145804659	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:145804659C>T	ENST00000360060.3	-	10	1219	c.1042G>A	c.(1042-1044)Gat>Aat	p.D348N	PLOD2_ENST00000282903.5_Missense_Mutation_p.D348N|PLOD2_ENST00000461497.1_5'Flank|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Missense_Mutation_p.D293N	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	348					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TTAGCTTTATCAAAAAATACC	0.284																																						uc003evs.1		NA																	0				ovary(1)|skin(1)	2						c.(1042-1044)GAT>AAT		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Vitamin C(DB00126)						51.0	48.0	49.0					3																	145804659		2188	4278	6466	SO:0001583	missense	5352				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr3:145804659C>T	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.1042G>A	3.37:g.145804659C>T	ENSP00000353170:p.Asp348Asn					PLOD2_uc003evq.1_5'Flank|PLOD2_uc011bnm.1_Missense_Mutation_p.D293N|PLOD2_uc003evr.1_Missense_Mutation_p.D348N	p.D348N	NM_000935	NP_000926	O00469	PLOD2_HUMAN			10	1548	-			348					B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	c.1042G>A	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897009	0.52121	.	.	ENSG00000152952	ENST00000282903;ENST00000360060;ENST00000494950	D;D;D	0.85088	-1.94;-1.94;-1.94	5.34	5.34	0.76211	.	0.048609	0.85682	D	0.000000	T	0.73164	0.3552	N	0.05124	-0.11	0.53005	D	0.999961	B;B;B	0.32573	0.376;0.088;0.001	B;B;B	0.31751	0.135;0.039;0.005	T	0.72649	-0.4229	10	0.33141	T	0.24	-22.7692	19.0474	0.93027	0.0:1.0:0.0:0.0	.	293;348;348	E7ETU9;O00469;O00469-2	.;PLOD2_HUMAN;.	N	348;348;293	ENSP00000282903:D348N;ENSP00000353170:D348N;ENSP00000420094:D293N	ENSP00000282903:D348N	D	-	1	0	PLOD2	147287349	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.686000	0.61700	2.505000	0.84491	0.491000	0.48974	GAT		0.284	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		13	28	0	0	0	0	13	28				
PLSCR2	57047	broad.mit.edu	37	3	146173093	146173093	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:146173093C>T	ENST00000497985.1	-	6	912	c.473G>A	c.(472-474)cGa>cAa	p.R158Q	PLSCR2_ENST00000336685.2_Missense_Mutation_p.R85Q	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	158					phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TATGACTTCTCGACCCACATT	0.418																																						uc003evv.1		NA																	0					0						c.(253-255)CGA>CAA		phospholipid scramblase 2							136.0	130.0	132.0					3																	146173093		2203	4300	6503	SO:0001583	missense	57047				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	g.chr3:146173093C>T		CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.473G>A	3.37:g.146173093C>T	ENSP00000420132:p.Arg158Gln					PLSCR2_uc003evw.1_Missense_Mutation_p.R154Q	p.R85Q	NM_020359	NP_065092	Q9NRY7	PLS2_HUMAN			5	587	-			85			Cytoplasmic (By similarity).		B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Missense_Mutation	SNP	ENST00000497985.1	37	c.254G>A	CCDS56284.1	.	.	.	.	.	.	.	.	.	.	.	2.636	-0.285183	0.05605	.	.	ENSG00000163746	ENST00000336685;ENST00000535500;ENST00000497985;ENST00000489015	T;T;T	0.21932	1.98;1.98;1.98	3.1	-6.2	0.02072	.	1.926630	0.04310	N	0.348870	T	0.10423	0.0255	N	0.15975	0.35	0.09310	N	1	B;B	0.28233	0.032;0.204	B;B	0.22880	0.034;0.042	T	0.29518	-1.0009	10	0.09084	T	0.74	.	11.4638	0.50225	0.0958:0.5468:0.0:0.3574	.	178;85	Q7Z4L7;Q9NRY7	.;PLS2_HUMAN	Q	85;177;158;85	ENSP00000338707:R85Q;ENSP00000420132:R158Q;ENSP00000418444:R85Q	ENSP00000338707:R85Q	R	-	2	0	PLSCR2	147655783	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-3.290000	0.00524	-2.669000	0.00415	-2.049000	0.00408	CGA		0.418	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359		47	242	0	0	0	0	47	242				
IGSF10	285313	broad.mit.edu	37	3	151155740	151155740	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:151155740C>T	ENST00000282466.3	-	6	6608	c.6609G>A	c.(6607-6609)gtG>gtA	p.V2203V	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2203	Ig-like C2-type 8.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGAGCAGTTTCACTTTGTTGA	0.418																																						uc011bod.1		NA																	0				skin(7)|ovary(5)|central_nervous_system(1)	13						c.(6607-6609)GTG>GTA		immunoglobulin superfamily, member 10 precursor							113.0	109.0	110.0					3																	151155740		2203	4300	6503	SO:0001819	synonymous_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151155740C>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.6609G>A	3.37:g.151155740C>T						IGSF10_uc011bob.1_Silent_p.V230V|IGSF10_uc011boc.1_Silent_p.V182V	p.V2203V	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		6	6609	-			2203			Ig-like C2-type 8.		Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	c.6609G>A	CCDS3160.1																																																																																				0.418	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		128	215	0	0	0	0	128	215				
SHOX2	6474	broad.mit.edu	37	3	157820574	157820574	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:157820574C>T	ENST00000425436.3	-	2	473	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	SHOX2_ENST00000490689.2_Missense_Mutation_p.E21K|SHOX2_ENST00000441443.2_Missense_Mutation_p.E21K|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000483851.2_Missense_Mutation_p.E150K|SHOX2_ENST00000389589.4_Missense_Mutation_p.E174K	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	150					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.E21*(1)|p.E174*(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTGAGTTGTTCCAGGGTGAAA	0.572																																						uc003fbr.2		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(448-450)GAA>AAA		short stature homeobox 2 isoform a							179.0	146.0	157.0					3																	157820574		2203	4300	6503	SO:0001583	missense	6474				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:157820574C>T	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"""Homeoboxes / PRD class"""	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.448G>A	3.37:g.157820574C>T	ENSP00000398704:p.Glu150Lys					SHOX2_uc003fbs.2_Missense_Mutation_p.E174K|SHOX2_uc010hvw.2_Missense_Mutation_p.E150K	p.E150K	NM_006884	NP_006875	O60902	SHOX2_HUMAN	Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)		2	587	-			150			Homeobox.		O60465|O60467|O60903	Missense_Mutation	SNP	ENST00000425436.3	37	c.448G>A	CCDS43164.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.876062|4.876062	0.91664|0.91664	.|.	.|.	ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000258518|ENSG00000168779	ENST00000425436;ENST00000490689;ENST00000389589;ENST00000313019;ENST00000441443;ENST00000483851|ENST00000555977	D;D;D;D;D|.	0.96587|.	-4.06;-4.06;-4.06;-4.06;-4.06|.	5.49|5.49	4.62|4.62	0.57501|0.57501	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);|.	0.061388|.	0.64402|.	N|.	0.000008|.	T|T	0.59514|0.59514	0.2199|0.2199	L|L	0.42245|0.42245	1.32|1.32	0.58432|0.58432	D|D	0.999999|0.999999	B;D;D|.	0.89917|.	0.015;0.999;1.0|.	B;D;D|.	0.85130|.	0.016;0.984;0.997|.	T|T	0.56390|0.56390	-0.7987|-0.7987	10|5	0.48119|.	T|.	0.1|.	.|.	14.2991|14.2991	0.66334|0.66334	0.0:0.9282:0.0:0.0718|0.0:0.9282:0.0:0.0718	.|.	150;174;150|.	O60902-2;O60902-3;O60902|.	.;.;SHOX2_HUMAN|.	K|E	174;21;150;21;21;150|53	ENSP00000398704:E174K;ENSP00000451888:E21K;ENSP00000374240:E150K;ENSP00000397099:E21K;ENSP00000419362:E150K|.	ENSP00000327294:E21K|.	E|G	-|-	1|2	0|0	SHOX2;AC112502.1|SHOX2	159303268|159303268	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.920000|5.920000	0.70017|0.70017	1.320000|1.320000	0.45209|0.45209	-0.140000|-0.140000	0.14226|0.14226	GAA|GGA		0.572	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2			40	236	0	0	0	0	40	236				
IFT80	57560	broad.mit.edu	37	3	160000298	160000298	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:160000298C>G	ENST00000326448.7	-	14	1916	c.1484G>C	c.(1483-1485)cGa>cCa	p.R495P	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.R666P|IFT80_ENST00000483465.1_Missense_Mutation_p.R358P|IFT80_ENST00000496589.1_Missense_Mutation_p.R358P	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	495					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTTCCCAAATCGTTTCACAGA	0.269																																						uc011boy.1		NA																	0				ovary(1)	1						c.(1483-1485)CGA>CCA		WD repeat domain 56							42.0	44.0	44.0					3																	160000298		2199	4285	6484	SO:0001583	missense	57560					cilium axoneme|microtubule basal body		g.chr3:160000298C>G	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.1484G>C	3.37:g.160000298C>G	ENSP00000312778:p.Arg495Pro					IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Missense_Mutation_p.R358P|IFT80_uc003fdd.1_Missense_Mutation_p.R178P|IFT80_uc003fde.1_Missense_Mutation_p.R358P	p.R495P	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		14	1917	-			495					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	c.1484G>C	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848201	0.71603	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589	T;T;T	0.70869	2.31;-0.52;-0.52	5.61	5.61	0.85477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.337587	0.23799	U	0.044454	T	0.57036	0.2026	L	0.40543	1.245	0.42006	D	0.990916	P	0.43578	0.811	B	0.33042	0.157	T	0.59193	-0.7500	10	0.30854	T	0.27	.	12.923	0.58243	0.0:0.9259:0.0:0.0741	.	495	Q9P2H3	IFT80_HUMAN	P	495;358;358	ENSP00000312778:R495P;ENSP00000418196:R358P;ENSP00000420646:R358P	ENSP00000312778:R495P	R	-	2	0	IFT80	161482992	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.843000	0.55865	2.645000	0.89757	0.591000	0.81541	CGA		0.269	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		8	90	0	0	0	0	8	90				
ECT2	1894	broad.mit.edu	37	3	172486838	172486838	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:172486838C>G	ENST00000392692.3	+	13	1509	c.1333C>G	c.(1333-1335)Cca>Gca	p.P445A	ECT2_ENST00000232458.5_Missense_Mutation_p.P414A|ECT2_ENST00000427830.1_Missense_Mutation_p.P414A|ECT2_ENST00000540509.1_Missense_Mutation_p.P445A|SNORA72_ENST00000363485.1_RNA|ECT2_ENST00000417960.1_Missense_Mutation_p.P413A|ECT2_ENST00000441497.2_Missense_Mutation_p.P414A	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	445					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAGCTCCACTCCAGTTCCTTC	0.348																																						uc003fii.2		NA																	0				breast(2)|ovary(1)|skin(1)	4						c.(1240-1242)CCA>GCA		epithelial cell transforming sequence 2 oncogene							107.0	106.0	107.0					3																	172486838		2203	4300	6503	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172486838C>G	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.1333C>G	3.37:g.172486838C>G	ENSP00000376457:p.Pro445Ala					ECT2_uc010hwv.1_Missense_Mutation_p.P445A|ECT2_uc003fih.2_Missense_Mutation_p.P413A|ECT2_uc003fij.1_Missense_Mutation_p.P414A|ECT2_uc003fik.1_Missense_Mutation_p.P414A|ECT2_uc003fil.1_Missense_Mutation_p.P445A	p.P414A	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		12	1378	+	Ovarian(172;0.00197)|Breast(254;0.158)		414					Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.1240C>G	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.543731	0.45280	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33	5.07	5.07	0.68467	Dbl homology (DH) domain (5);	0.049436	0.85682	D	0.000000	T	0.27027	0.0662	N	0.21240	0.645	0.80722	D	1	B;B;B;B	0.27971	0.002;0.036;0.196;0.002	B;B;B;B	0.28784	0.034;0.034;0.094;0.012	T	0.06092	-1.0846	10	0.12430	T	0.62	-14.0971	18.8221	0.92102	0.0:1.0:0.0:0.0	.	445;445;414;413	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	A	414;445;414;413;414;445	ENSP00000232458:P414A;ENSP00000376457:P445A;ENSP00000401910:P414A;ENSP00000415876:P413A;ENSP00000412259:P414A;ENSP00000443160:P445A	ENSP00000232458:P414A	P	+	1	0	ECT2	173969532	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.452000	0.66638	2.513000	0.84729	0.655000	0.94253	CCA		0.348	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		4	233	0	0	0	0	4	233				
NLGN1	22871	broad.mit.edu	37	3	173998755	173998755	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:173998755T>C	ENST00000457714.1	+	7	2563	c.2134T>C	c.(2134-2136)Tgc>Cgc	p.C712R	NLGN1_ENST00000401917.3_Missense_Mutation_p.C752R|NLGN1_ENST00000545397.1_Missense_Mutation_p.C712R|NLGN1_ENST00000361589.4_Missense_Mutation_p.C712R	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	729					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TCACAGGAGATGCAGCCCTCA	0.453																																						uc003fio.1		NA																	0				lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(2134-2136)TGC>CGC		neuroligin 1							128.0	109.0	116.0					3																	173998755		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173998755T>C	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.2134T>C	3.37:g.173998755T>C	ENSP00000392500:p.Cys712Arg					NLGN1_uc003fip.1_Missense_Mutation_p.C712R	p.C712R	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2557	+	Ovarian(172;0.0025)		729			Cytoplasmic (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.2134T>C	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	T	11.95	1.791627	0.31685	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	L	0.32530	0.975	0.80722	D	1	P	0.40681	0.727	B	0.42692	0.395	T	0.58092	-0.7697	10	0.41790	T	0.15	.	16.2484	0.82467	0.0:0.0:0.0:1.0	.	712	Q8N2Q7-2	.	R	712;712;712;752	ENSP00000392500:C712R;ENSP00000354541:C712R;ENSP00000441108:C712R;ENSP00000385750:C752R	ENSP00000354541:C712R	C	+	1	0	NLGN1	175481449	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.132000	0.64758	2.291000	0.77112	0.533000	0.62120	TGC		0.453	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		83	72	0	0	0	0	83	72				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|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)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			27	148	0	0	0	0	27	148				
GNB4	59345	broad.mit.edu	37	3	179123134	179123134	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:179123134C>G	ENST00000232564.3	-	9	1046	c.760G>C	c.(760-762)Gac>Cac	p.D254H	RP11-145M9.5_ENST00000608131.1_RNA|GNB4_ENST00000468623.1_Missense_Mutation_p.D254H	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	254					cell death (GO:0008219)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			GCACGAAGGTCAAAGAGCCGG	0.418																																					Melanoma(105;1405 1491 7265 20440 33721)	uc003fjv.3		NA																	0				skin(2)	2						c.(760-762)GAC>CAC		guanine nucleotide-binding protein, beta-4							71.0	69.0	70.0					3																	179123134		2203	4300	6503	SO:0001583	missense	59345				cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity	g.chr3:179123134C>G	AF300648	CCDS3230.1	3q27.1	2013-01-10			ENSG00000114450	ENSG00000114450		"""WD repeat domain containing"""	20731	protein-coding gene	gene with protein product		610863				10644457, 11842130	Standard	NM_021629		Approved		uc003fjv.4	Q9HAV0	OTTHUMG00000157440	ENST00000232564.3:c.760G>C	3.37:g.179123134C>G	ENSP00000232564:p.Asp254His					GNB4_uc003fju.3_Intron	p.D254H	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)		9	1040	-	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		254			WD 5.		B3KMH5|D3DNR8	Missense_Mutation	SNP	ENST00000232564.3	37	c.760G>C	CCDS3230.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533419	0.85812	.	.	ENSG00000114450	ENST00000232564;ENST00000468623	T;T	0.02472	4.28;4.28	5.24	4.37	0.52481	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.045271	0.85682	D	0.000000	T	0.19287	0.0463	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03157	-1.1066	10	0.87932	D	0	-28.9276	14.2274	0.65868	0.0:0.9273:0.0:0.0727	.	254	Q9HAV0	GBB4_HUMAN	H	254	ENSP00000232564:D254H;ENSP00000419693:D254H	ENSP00000232564:D254H	D	-	1	0	GNB4	180605828	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.541000	0.82084	1.336000	0.45506	0.655000	0.94253	GAC		0.418	GNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258218.1	NM_021629		47	106	0	0	0	0	47	106				
PEX5L	51555	broad.mit.edu	37	3	179533749	179533749	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:179533749C>G	ENST00000467460.1	-	10	1313	c.983G>C	c.(982-984)gGa>gCa	p.G328A	PEX5L_ENST00000468741.1_Missense_Mutation_p.G136A|PEX5L_ENST00000263962.8_Missense_Mutation_p.G326A|PEX5L_ENST00000392649.3_Missense_Mutation_p.G220A|PEX5L_ENST00000485199.1_Missense_Mutation_p.G293A|PEX5L_ENST00000472994.1_Missense_Mutation_p.G269A|PEX5L_ENST00000464614.1_Missense_Mutation_p.G220A|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.G304A|PEX5L_ENST00000476138.1_Missense_Mutation_p.G285A	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	328					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TTCAAATGCTCCAGGCCAGTC	0.473																																						uc003fki.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(982-984)GGA>GCA		peroxisomal biogenesis factor 5-like							100.0	98.0	99.0					3																	179533749		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179533749C>G	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.983G>C	3.37:g.179533749C>G	ENSP00000419975:p.Gly328Ala					PEX5L_uc011bqd.1_Missense_Mutation_p.G285A|PEX5L_uc011bqe.1_Missense_Mutation_p.G136A|PEX5L_uc011bqf.1_Missense_Mutation_p.G220A|PEX5L_uc003fkj.1_Missense_Mutation_p.G293A|PEX5L_uc010hxd.1_Missense_Mutation_p.G326A|PEX5L_uc011bqg.1_Missense_Mutation_p.G304A|PEX5L_uc011bqh.1_Missense_Mutation_p.G269A	p.G328A	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		10	1113	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		328					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.983G>C	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067375	0.55539	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	T;T;T;T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.44	5.44	0.79542	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.108239	0.64402	D	0.000005	T	0.74504	0.3725	L	0.36672	1.1	0.52099	D	0.99994	D;P;B;B;B;B	0.55172	0.97;0.941;0.004;0.11;0.046;0.067	P;P;B;B;B;B	0.44561	0.453;0.453;0.01;0.05;0.034;0.023	T	0.77726	-0.2480	10	0.59425	D	0.04	-23.0001	19.623	0.95667	0.0:1.0:0.0:0.0	.	269;304;220;326;293;328	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	A	328;326;293;326;220;136;285;216;269;220;304	ENSP00000419975:G328A;ENSP00000263962:G326A;ENSP00000418440:G293A;ENSP00000376420:G220A;ENSP00000418665:G136A;ENSP00000420555:G285A;ENSP00000418054:G269A;ENSP00000417270:G220A;ENSP00000419348:G304A	ENSP00000263962:G326A	G	-	2	0	PEX5L	181016443	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	5.353000	0.66034	2.702000	0.92279	0.655000	0.94253	GGA		0.473	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		24	213	0	0	0	0	24	213				
PEX5L	51555	broad.mit.edu	37	3	179597738	179597738	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:179597738C>G	ENST00000467460.1	-	5	814	c.484G>C	c.(484-486)Gag>Cag	p.E162Q	PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000263962.8_Missense_Mutation_p.E160Q|PEX5L_ENST00000392649.3_Intron|PEX5L_ENST00000485199.1_Missense_Mutation_p.E127Q|PEX5L_ENST00000472994.1_Missense_Mutation_p.E103Q|PEX5L_ENST00000464614.1_Intron|PEX5L_ENST00000467440.2_Intron|PEX5L_ENST00000465751.1_Missense_Mutation_p.E138Q|PEX5L_ENST00000476138.1_Missense_Mutation_p.E119Q	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	162					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GATGAAGTCTCCGGGACTCTG	0.512																																						uc003fki.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(484-486)GAG>CAG		peroxisomal biogenesis factor 5-like							132.0	130.0	131.0					3																	179597738		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179597738C>G	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.484G>C	3.37:g.179597738C>G	ENSP00000419975:p.Glu162Gln					PEX5L_uc011bqd.1_Missense_Mutation_p.E119Q|PEX5L_uc011bqe.1_5'UTR|PEX5L_uc011bqf.1_Intron|PEX5L_uc003fkj.1_Missense_Mutation_p.E127Q|PEX5L_uc010hxd.1_Missense_Mutation_p.E160Q|PEX5L_uc011bqg.1_Missense_Mutation_p.E138Q|PEX5L_uc011bqh.1_Missense_Mutation_p.E103Q	p.E162Q	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		5	614	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		162					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.484G>C	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530328	0.85706	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000476138;ENST00000472994;ENST00000465751;ENST00000469198;ENST00000463761	D;D;D;D;D;D	0.90732	-2.72;-2.72;-2.66;-2.67;-2.68;-2.69	5.62	5.62	0.85841	.	0.053822	0.64402	D	0.000001	D	0.91129	0.7207	L	0.29908	0.895	0.80722	D	1	P;P;D;D;D	0.63046	0.943;0.943;0.986;0.992;0.987	P;P;P;P;P	0.56563	0.544;0.544;0.801;0.801;0.638	D	0.90408	0.4407	10	0.41790	T	0.15	-24.4167	20.0149	0.97475	0.0:1.0:0.0:0.0	.	103;138;160;127;162	E7EUZ0;E9PH97;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;PEX5R_HUMAN	Q	162;160;127;160;119;103;138;151;186	ENSP00000419975:E162Q;ENSP00000263962:E160Q;ENSP00000418440:E127Q;ENSP00000420555:E119Q;ENSP00000418054:E103Q;ENSP00000419348:E138Q	ENSP00000263962:E160Q	E	-	1	0	PEX5L	181080432	1.000000	0.71417	0.943000	0.38184	0.670000	0.39368	6.180000	0.71981	2.793000	0.96121	0.650000	0.86243	GAG		0.512	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		30	177	0	0	0	0	30	177				
HTR3D	200909	broad.mit.edu	37	3	183756393	183756393	+	Silent	SNP	C	C	T	rs267599708		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:183756393C>T	ENST00000382489.3	+	7	1116	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	HTR3D_ENST00000428798.2_Silent_p.L322L|HTR3D_ENST00000334128.2_Silent_p.L197L|HTR3D_ENST00000453435.1_Silent_p.L151L	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	372					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)	GCCCGGGTCTCACCCCCACCC	0.642																																						uc011bqv.1		NA																	0					0						c.(1114-1116)CTC>CTT		5-hydroxytryptamine receptor 3 subunit D isoform							24.0	28.0	27.0					3																	183756393		2202	4299	6501	SO:0001819	synonymous_variant	200909					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183756393C>T	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.1116C>T	3.37:g.183756393C>T						HTR3D_uc003fmj.2_Silent_p.L197L|HTR3D_uc011bqu.1_Silent_p.L322L|HTR3D_uc010hxp.2_Silent_p.L151L	p.L372L	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		7	1116	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		372			Cytoplasmic (Potential).		C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Silent	SNP	ENST00000382489.3	37	c.1116C>T	CCDS54685.1																																																																																				0.642	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	NM_182537		5	77	0	0	0	0	5	77				
HTR3C	170572	broad.mit.edu	37	3	183777329	183777329	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:183777329G>A	ENST00000318351.1	+	7	860	c.826G>A	c.(826-828)Gag>Aag	p.E276K		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	276					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)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	AGCAGAGAGCGAGAATCGTGC	0.547																																						uc003fmk.2		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(826-828)GAG>AAG		5-hydroxytryptamine receptor 3 subunit C							151.0	134.0	140.0					3																	183777329		2203	4300	6503	SO:0001583	missense	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183777329G>A	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.826G>A	3.37:g.183777329G>A	ENSP00000322617:p.Glu276Lys						p.E276K	NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		7	860	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		276			Cytoplasmic (Potential).		A2RRR5	Missense_Mutation	SNP	ENST00000318351.1	37	c.826G>A	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	.	6.521	0.464381	0.12402	.	.	ENSG00000178084	ENST00000318351	D	0.85258	-1.96	4.01	0.0175	0.14113	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.749657	0.12505	N	0.462949	T	0.63498	0.2516	N	0.02011	-0.69	0.09310	N	1	B	0.18968	0.032	B	0.25405	0.06	T	0.56498	-0.7969	10	0.66056	D	0.02	.	5.7836	0.18320	0.1832:0.2764:0.5405:0.0	.	276	Q8WXA8	5HT3C_HUMAN	K	276	ENSP00000322617:E276K	ENSP00000322617:E276K	E	+	1	0	HTR3C	185260023	0.007000	0.16637	0.000000	0.03702	0.447000	0.32167	1.513000	0.35823	-0.199000	0.10317	-0.123000	0.14984	GAG		0.547	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		55	317	0	0	0	0	55	317				
HTR3C	170572	broad.mit.edu	37	3	183777427	183777427	+	Splice_Site	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:183777427C>T	ENST00000318351.1	+	7	958	c.924C>T	c.(922-924)atC>atT	p.I308I		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	308					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)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CCCCCCTCATCAGTATGGCTC	0.587																																						uc003fmk.2		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(922-924)ATC>ATT		5-hydroxytryptamine receptor 3 subunit C							123.0	113.0	116.0					3																	183777427		2203	4300	6503	SO:0001630	splice_region_variant	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183777427C>T	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.925+1C>T	3.37:g.183777427C>T							p.I308I	NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		7	958	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		308			Helical; Name=3; (Potential).		A2RRR5	Silent	SNP	ENST00000318351.1	37	c.924C>T	CCDS3250.1																																																																																				0.587	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770	Silent	47	353	0	0	0	0	47	353				
AP2M1	1173	broad.mit.edu	37	3	183896864	183896864	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:183896864G>C	ENST00000292807.5	+	3	442	c.294G>C	c.(292-294)gaG>gaC	p.E98D	AP2M1_ENST00000439647.1_Missense_Mutation_p.E98D|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000382456.3_Missense_Mutation_p.E98D|AP2M1_ENST00000411763.2_Missense_Mutation_p.E123D	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	98					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGATCAGCGAGGAAAACATCA	0.522																																						uc011bqx.1		NA																	0					0						c.(292-294)GAG>GAC		adaptor-related protein complex 2, mu 1 subunit							126.0	129.0	128.0					3																	183896864		2045	4202	6247	SO:0001583	missense	1173				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity	g.chr3:183896864G>C	U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.294G>C	3.37:g.183896864G>C	ENSP00000292807:p.Glu98Asp					AP2M1_uc003fmw.2_Missense_Mutation_p.E98D|AP2M1_uc003fmx.2_Missense_Mutation_p.E98D|AP2M1_uc003fmy.2_Missense_Mutation_p.E98D|AP2M1_uc011bqy.1_5'Flank|AP2M1_uc011bqz.1_5'Flank	p.E98D	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		3	451	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		98					A6NE12|D3DNT1|P20172|P53679	Missense_Mutation	SNP	ENST00000292807.5	37	c.294G>C	CCDS43177.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705139	0.48412	.	.	ENSG00000161203	ENST00000382456;ENST00000427072;ENST00000411763;ENST00000292807;ENST00000540821;ENST00000539646;ENST00000448139;ENST00000455925;ENST00000439647;ENST00000432591;ENST00000431779	T;T;T;T	0.69435	-0.4;-0.4;-0.39;-0.4	5.53	0.73	0.18271	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.63379	0.2506	M	0.75777	2.31	0.58432	D	0.999999	B;B;B	0.27679	0.012;0.185;0.006	B;B;B	0.27170	0.042;0.077;0.025	T	0.61569	-0.7036	10	0.66056	D	0.02	.	10.6281	0.45519	0.5421:0.0:0.4579:0.0	.	98;123;98	Q96CW1;E9PFW3;Q96CW1-2	AP2M1_HUMAN;.;.	D	98;121;123;98;38;85;100;98;98;98;98	ENSP00000371894:E98D;ENSP00000403362:E123D;ENSP00000292807:E98D;ENSP00000409081:E98D	ENSP00000292807:E98D	E	+	3	2	AP2M1	185379558	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	2.577000	0.46042	0.038000	0.15604	0.655000	0.94253	GAG		0.522	AP2M1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346013.1	NM_004068		47	341	0	0	0	0	47	341				
PSMD2	5708	broad.mit.edu	37	3	184026289	184026289	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:184026289G>A	ENST00000310118.4	+	20	3036	c.2478G>A	c.(2476-2478)caG>caA	p.Q826Q	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Silent_p.Q696Q|PSMD2_ENST00000435761.1_Silent_p.Q667Q	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	826					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CTGCCATGCAGCCCCGAATGC	0.537											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(24;313 636 6917 9932 15554)	uc003fnn.1		NA																	0					0						c.(2476-2478)CAG>CAA		proteasome 26S non-ATPase subunit 2	Bortezomib(DB00188)						123.0	138.0	133.0					3																	184026289		2203	4300	6503	SO:0001819	synonymous_variant	5708				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr3:184026289G>A	AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.2478G>A	3.37:g.184026289G>A			OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1989	PSMD2_uc011brj.1_Silent_p.Q667Q|PSMD2_uc011brk.1_Silent_p.Q696Q	p.Q826Q	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		20	2511	+	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		826					B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Silent	SNP	ENST00000310118.4	37	c.2478G>A	CCDS3258.1																																																																																				0.537	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808		157	264	0	0	0	0	157	264				
EIF4G1	1981	broad.mit.edu	37	3	184033995	184033995	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:184033995C>T	ENST00000346169.2	+	4	407	c.136C>T	c.(136-138)Cag>Tag	p.Q46*	EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.Q46*|EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.Q46*|EIF4G1_ENST00000342981.4_Nonsense_Mutation_p.Q46*|EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.Q46*|EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.Q6*|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000427845.1_Intron|EIF4G1_ENST00000392537.2_Intron|EIF4G1_ENST00000350481.5_Intron|EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.Q46*|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.Q6*	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	46					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACGCCTTCTCAGCCCCGCCA	0.617																																						uc003fnp.2		NA																	0				lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(136-138)CAG>TAG		eukaryotic translation initiation factor 4							26.0	28.0	27.0					3																	184033995		2203	4300	6503	SO:0001587	stop_gained	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184033995C>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.136C>T	3.37:g.184033995C>T	ENSP00000316879:p.Gln46*					EIF4G1_uc003fno.1_Nonsense_Mutation_p.Q46*|EIF4G1_uc010hxw.1_5'UTR|EIF4G1_uc003fnt.2_Intron|EIF4G1_uc003fnq.2_Intron|EIF4G1_uc003fnr.2_Intron|EIF4G1_uc010hxx.2_Nonsense_Mutation_p.Q46*|EIF4G1_uc003fns.2_Nonsense_Mutation_p.Q6*|EIF4G1_uc010hxy.2_Nonsense_Mutation_p.Q46*|EIF4G1_uc010hxz.1_Intron|EIF4G1_uc003fnv.3_Nonsense_Mutation_p.Q46*|EIF4G1_uc003fnu.3_Nonsense_Mutation_p.Q46*|EIF4G1_uc003fnw.2_Nonsense_Mutation_p.Q46*	p.Q46*	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		4	334	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		46					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Nonsense_Mutation	SNP	ENST00000346169.2	37	c.136C>T	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893985	0.91889	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000455679;ENST00000440448;ENST00000352767;ENST00000427141;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000456033;ENST00000411531	.	.	.	4.89	4.89	0.63831	.	0.074360	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-12.0815	18.2584	0.90025	0.0:1.0:0.0:0.0	.	.	.	.	X	46;6;46;46;46;46;6;46;46;6;46;46;46;6;6	.	ENSP00000323737:Q46X	Q	+	1	0	EIF4G1	185516689	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.763000	0.55257	2.531000	0.85337	0.655000	0.94253	CAG		0.617	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		12	114	0	0	0	0	12	114				
MAP3K13	9175	broad.mit.edu	37	3	185198141	185198141	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:185198141G>A	ENST00000265026.3	+	13	2957	c.2623G>A	c.(2623-2625)Gat>Aat	p.D875N	MAP3K13_ENST00000443863.1_Missense_Mutation_p.D731N|TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000446828.1_Missense_Mutation_p.D668N|MAP3K13_ENST00000424227.1_Missense_Mutation_p.D875N|MAP3K13_ENST00000535426.1_Missense_Mutation_p.D731N	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGAGTTAGCTGATAAACTTGA	0.483																																						uc010hyf.2		NA																	0				ovary(2)|skin(1)	3						c.(2623-2625)GAT>AAT		mitogen-activated protein kinase kinase kinase							104.0	99.0	101.0					3																	185198141		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185198141G>A	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.2623G>A	3.37:g.185198141G>A	ENSP00000265026:p.Asp875Asn					MAP3K13_uc011brt.1_Missense_Mutation_p.D668N|MAP3K13_uc011bru.1_Missense_Mutation_p.D731N|MAP3K13_uc003fpi.2_Missense_Mutation_p.D875N|MAP3K13_uc010hyg.2_Missense_Mutation_p.D565N	p.D875N	NM_004721	NP_004712	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		14	2889	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		875						Missense_Mutation	SNP	ENST00000265026.3	37	c.2623G>A	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.555437	0.27739	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.76839	-1.05;-0.97;-0.94;-0.94;-0.97	5.72	2.7	0.31948	.	0.859481	0.10411	N	0.677892	T	0.56615	0.1997	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.39542	-0.9609	10	0.18276	T	0.48	.	8.9924	0.36033	0.1796:0.2321:0.5883:0.0	.	731;668;875	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	N	668;875;731;731;875	ENSP00000411483:D668N;ENSP00000399910:D875N;ENSP00000409325:D731N;ENSP00000439257:D731N;ENSP00000265026:D875N	ENSP00000265026:D875N	D	+	1	0	MAP3K13	186680835	0.002000	0.14202	0.000000	0.03702	0.988000	0.76386	1.118000	0.31246	0.727000	0.32360	0.655000	0.94253	GAT		0.483	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		82	211	0	0	0	0	82	211				
MAP3K13	9175	broad.mit.edu	37	3	185200197	185200197	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:185200197G>C	ENST00000265026.3	+	14	3188	c.2854G>C	c.(2854-2856)Gat>Cat	p.D952H	MAP3K13_ENST00000443863.1_Missense_Mutation_p.D808H|TMEM41A_ENST00000475480.1_Intron|MAP3K13_ENST00000446828.1_Missense_Mutation_p.D745H|MAP3K13_ENST00000424227.1_Missense_Mutation_p.D952H|MAP3K13_ENST00000535426.1_Missense_Mutation_p.D808H	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGAGTGTTCTGATGCCACAGT	0.433																																						uc010hyf.2		NA																	0				ovary(2)|skin(1)	3						c.(2854-2856)GAT>CAT		mitogen-activated protein kinase kinase kinase							220.0	194.0	203.0					3																	185200197		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185200197G>C	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.2854G>C	3.37:g.185200197G>C	ENSP00000265026:p.Asp952His					MAP3K13_uc011brt.1_Missense_Mutation_p.D745H|MAP3K13_uc011bru.1_Missense_Mutation_p.D808H|MAP3K13_uc003fpi.2_Missense_Mutation_p.D952H|MAP3K13_uc010hyg.2_Missense_Mutation_p.D642H	p.D952H	NM_004721	NP_004712	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		15	3120	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		952						Missense_Mutation	SNP	ENST00000265026.3	37	c.2854G>C	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.990816	0.93106	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	D;D;D;D;D	0.85556	-1.97;-2.0;-1.81;-1.81;-2.0	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.88451	0.6440	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.89371	0.3675	10	0.66056	D	0.02	.	20.1197	0.97955	0.0:0.0:1.0:0.0	.	808;745;952	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	H	745;952;808;808;952	ENSP00000411483:D745H;ENSP00000399910:D952H;ENSP00000409325:D808H;ENSP00000439257:D808H;ENSP00000265026:D952H	ENSP00000265026:D952H	D	+	1	0	MAP3K13	186682891	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.411000	0.97342	2.770000	0.95276	0.650000	0.86243	GAT		0.433	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		6	582	0	0	0	0	6	582				
ATP13A4	84239	broad.mit.edu	37	3	193220359	193220359	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:193220359C>T	ENST00000342695.4	-	3	626	c.304G>A	c.(304-306)Ggt>Agt	p.G102S	ATP13A4_ENST00000392443.3_Missense_Mutation_p.G102S|ATP13A4_ENST00000295548.3_Missense_Mutation_p.G102S	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	102						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GGAGTGAGACCAAATGCGCTG	0.408																																						uc003ftd.2		NA																	0				ovary(2)	2						c.(304-306)GGT>AGT		ATPase type 13A4							150.0	131.0	137.0					3																	193220359		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193220359C>T	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.304G>A	3.37:g.193220359C>T	ENSP00000339182:p.Gly102Ser					ATP13A4_uc003fte.1_Missense_Mutation_p.G102S|ATP13A4_uc011bsr.1_5'UTR	p.G102S	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	3	412	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		102			Extracellular (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.304G>A	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	1.246	-0.619816	0.03636	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	T;T;T	0.20332	2.08;2.08;2.08	5.58	2.71	0.32032	.	0.671821	0.14157	N	0.337629	T	0.07593	0.0191	N	0.04508	-0.205	0.09310	N	1	B;B	0.12013	0.005;0.002	B;B	0.18263	0.012;0.021	T	0.40213	-0.9575	10	0.06625	T	0.88	0.365	6.2372	0.20770	0.0:0.6597:0.1699:0.1705	.	102;102	Q4VNC1-2;Q4VNC1	.;AT134_HUMAN	S	102	ENSP00000376238:G102S;ENSP00000339182:G102S;ENSP00000295548:G102S	ENSP00000295548:G102S	G	-	1	0	ATP13A4	194703053	0.000000	0.05858	0.103000	0.21229	0.008000	0.06430	-0.036000	0.12185	0.673000	0.31224	0.561000	0.74099	GGT		0.408	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		139	88	0	0	0	0	139	88				
ATP13A3	79572	broad.mit.edu	37	3	194140610	194140610	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:194140610G>A	ENST00000439040.1	-	31	4191	c.3400C>T	c.(3400-3402)Cag>Tag	p.Q1134*	ATP13A3_ENST00000256031.4_Nonsense_Mutation_p.Q1134*			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1134						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AGTCTTACCTGAAGAACCTGG	0.318																																						uc003fty.3		NA																	0				ovary(1)	1						c.(3400-3402)CAG>TAG		ATPase type 13A3							112.0	104.0	106.0					3																	194140610		1810	4072	5882	SO:0001587	stop_gained	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194140610G>A	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.3400C>T	3.37:g.194140610G>A	ENSP00000416508:p.Gln1134*					ATP13A3_uc003ftx.3_Nonsense_Mutation_p.Q13*	p.Q1134*	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	30	3802	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	1134					Q8NC11|Q96KS1	Nonsense_Mutation	SNP	ENST00000439040.1	37	c.3400C>T	CCDS43187.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	45|45	11.399714|11.399714	0.99556|0.99556	.|.	.|.	ENSG00000133657|ENSG00000133657	ENST00000439040;ENST00000256031|ENST00000429136	.|.	.|.	.|.	5.63|5.63	1.54|1.54	0.23209|0.23209	.|.	0.175650|.	0.48767|.	D|.	0.000171|.	.|T	.|0.70561	.|0.3238	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74836	.|-0.3529	.|3	0.33940|.	T|.	0.23|.	-3.3656|-3.3656	17.8923|17.8923	0.88876|0.88876	0.0:0.7384:0.2616:0.0|0.0:0.7384:0.2616:0.0	.|.	.|.	.|.	.|.	X|L	1134|39	.|.	ENSP00000256031:Q1134X|.	Q|S	-|-	1|2	0|0	ATP13A3|ATP13A3	195621899|195621899	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.844000|0.844000	0.47949|0.47949	1.525000|1.525000	0.35953|0.35953	0.282000|0.282000	0.22254|0.22254	-0.156000|-0.156000	0.13503|0.13503	CAG|TCA		0.318	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		43	168	0	0	0	0	43	168				
SENP5	205564	broad.mit.edu	37	3	196656542	196656542	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:196656542C>G	ENST00000323460.5	+	9	2394	c.2145C>G	c.(2143-2145)gtC>gtG	p.V715V	SENP5_ENST00000419026.1_Silent_p.V205V|SENP5_ENST00000445299.2_Silent_p.V669V	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	715	Protease.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		ACTGTGGAGTCTTTGTGCTCC	0.393																																					Ovarian(47;891 1095 11174 13858 51271)	uc003fwz.3		NA																	0				breast(2)|lung(1)	3						c.(2143-2145)GTC>GTG		SUMO1/sentrin specific peptidase 5							144.0	126.0	132.0					3																	196656542		2203	4300	6503	SO:0001819	synonymous_variant	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196656542C>G	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.2145C>G	3.37:g.196656542C>G						SENP5_uc011bty.1_Silent_p.V669V	p.V715V	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	9	2394	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		715			Protease.		B4DY82|Q96SA5	Silent	SNP	ENST00000323460.5	37	c.2145C>G	CCDS3322.1	.	.	.	.	.	.	.	.	.	.	C	9.145	1.014766	0.19355	.	.	ENSG00000119231	ENST00000448068;ENST00000434433	.	.	.	5.64	2.83	0.33086	.	.	.	.	.	T	0.46983	0.1421	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30001	-0.9993	4	.	.	.	-8.681	3.9619	0.09415	0.3111:0.4755:0.1347:0.0787	.	.	.	.	C	58;36	.	.	S	+	2	0	SENP5	198140939	0.975000	0.34042	1.000000	0.80357	0.996000	0.88848	0.031000	0.13710	0.399000	0.25367	-0.182000	0.12963	TCT		0.393	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		42	116	0	0	0	0	42	116				
KIAA0226	9711	broad.mit.edu	37	3	197420604	197420604	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:197420604C>T	ENST00000296343.5	-	11	1767	c.1768G>A	c.(1768-1770)Gat>Aat	p.D590N	KIAA0226_ENST00000389665.5_Missense_Mutation_p.D590N|KIAA0226_ENST00000273582.5_Missense_Mutation_p.D545N	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	590	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TCAAATTCATCAACCTCATCA	0.428																																					Esophageal Squamous(3;167 355 3763 15924)	uc003fyc.2		NA																	0					0						c.(1768-1770)GAT>AAT		hypothetical protein LOC9711 isoform 2.							72.0	73.0	73.0					3																	197420604		1942	4158	6100	SO:0001583	missense	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197420604C>T	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.1768G>A	3.37:g.197420604C>T	ENSP00000296343:p.Asp590Asn					KIAA0226_uc003fyd.3_Missense_Mutation_p.D545N|KIAA0226_uc003fye.1_Missense_Mutation_p.D297N|KIAA0226_uc003fyf.2_3'UTR	p.D590N	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	11	1951	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		590			Ser-rich.		Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	c.1768G>A	CCDS43195.1	.	.	.	.	.	.	.	.	.	.	C	35	5.449081	0.96205	.	.	ENSG00000145016	ENST00000273582;ENST00000296343;ENST00000389665	T;T	0.39056	1.1;1.1	5.64	5.64	0.86602	.	0.063094	0.64402	D	0.000005	T	0.49150	0.1540	N	0.22421	0.69	0.46044	D	0.998839	P;P;P	0.52061	0.95;0.95;0.917	P;P;P	0.57846	0.828;0.828;0.678	T	0.46871	-0.9160	10	0.49607	T	0.09	.	19.7013	0.96054	0.0:1.0:0.0:0.0	.	590;545;590	Q92622-3;Q92622-2;Q92622	.;.;RUBIC_HUMAN	N	545;590;590	ENSP00000273582:D545N;ENSP00000296343:D590N	ENSP00000273582:D545N	D	-	1	0	KIAA0226	198905001	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.964000	0.63701	2.657000	0.90304	0.655000	0.94253	GAT		0.428	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		25	108	0	0	0	0	25	108				
PDE6B	5158	broad.mit.edu	37	4	651154	651154	+	Silent	SNP	C	C	T	rs202194404		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:651154C>T	ENST00000496514.1	+	10	1293	c.1272C>T	c.(1270-1272)ttC>ttT	p.F424F	PDE6B_ENST00000429163.2_Silent_p.F145F|RP11-1191J2.2_ENST00000489312.1_RNA|RP11-1191J2.2_ENST00000468356.1_RNA|PDE6B_ENST00000255622.6_Silent_p.F424F			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	424	GAF 2.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	TGACACAGTTCCTGGGCTGGT	0.622																																					GBM(71;463 1194 9848 25922 46834)	uc003gap.2		NA																	0					0						c.(1270-1272)TTC>TTT		phosphodiesterase 6B isoform 1							132.0	80.0	98.0					4																	651154		2203	4299	6502	SO:0001819	synonymous_variant	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:651154C>T	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1272C>T	4.37:g.651154C>T						PDE6B_uc003gao.3_Silent_p.F424F|PDE6B_uc011buy.1_Silent_p.F145F|uc003gaq.1_5'Flank	p.F424F	NM_000283	NP_000274	P35913	PDE6B_HUMAN			10	1325	+			424			GAF 2.		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	ENST00000496514.1	37	c.1272C>T	CCDS33932.1																																																																																				0.622	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		16	26	0	0	0	0	16	26				
DGKQ	1609	broad.mit.edu	37	4	955487	955487	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:955487G>C	ENST00000273814.3	-	20	2524	c.2451C>G	c.(2449-2451)atC>atG	p.I817M	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	817					blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGGGGATGTTGATGAAGATGA	0.652																																					Esophageal Squamous(17;537 645 4447 26373)	uc003gbw.2		NA																	0				kidney(1)	1						c.(2449-2451)ATC>ATG		diacylglycerol kinase, theta							52.0	57.0	55.0					4																	955487		2201	4299	6500	SO:0001583	missense	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:955487G>C	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.2451C>G	4.37:g.955487G>C	ENSP00000273814:p.Ile817Met					DGKQ_uc010ibn.2_Missense_Mutation_p.I804M	p.I817M	NM_001347	NP_001338	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		20	2525	-			817					Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	c.2451C>G	CCDS3342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.07|15.07	2.722826|2.722826	0.48728|0.48728	.|.	.|.	ENSG00000145214|ENSG00000145214	ENST00000273814|ENST00000509465	T|.	0.30448|.	1.53|.	5.27|5.27	3.5|3.5	0.40072|0.40072	Diacylglycerol kinase, accessory domain (2);|.	0.110813|.	0.64402|.	D|.	0.000007|.	T|.	0.51160|.	0.1658|.	L|L	0.35644|0.35644	1.08|1.08	0.58432|0.58432	D|D	0.999995|0.999995	D;D|.	0.57899|.	0.966;0.981|.	P;P|.	0.62885|.	0.902;0.908|.	T|.	0.36261|.	-0.9755|.	10|.	0.72032|.	D|.	0.01|.	.|.	9.0629|9.0629	0.36444|0.36444	0.1864:0.0:0.8136:0.0|0.1864:0.0:0.8136:0.0	.|.	817;817|.	E9KL49;P52824|.	.;DGKQ_HUMAN|.	M|X	817|751	ENSP00000273814:I817M|.	ENSP00000273814:I817M|.	I|S	-|-	3|2	3|0	DGKQ|DGKQ	945487|945487	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.296000|0.296000	0.27459|0.27459	4.447000|4.447000	0.60020|0.60020	0.574000|0.574000	0.29417|0.29417	0.556000|0.556000	0.70494|0.70494	ATC|TCA		0.652	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			16	32	0	0	0	0	16	32				
DGKQ	1609	broad.mit.edu	37	4	955492	955492	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:955492A>G	ENST00000273814.3	-	20	2519	c.2446T>C	c.(2446-2448)Ttc>Ctc	p.F816L	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	816					blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ATGTTGATGAAGATGAGGCCT	0.662																																					Esophageal Squamous(17;537 645 4447 26373)	uc003gbw.2		NA																	0				kidney(1)	1						c.(2446-2448)TTC>CTC		diacylglycerol kinase, theta							54.0	59.0	58.0					4																	955492		2202	4299	6501	SO:0001583	missense	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:955492A>G	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.2446T>C	4.37:g.955492A>G	ENSP00000273814:p.Phe816Leu					DGKQ_uc010ibn.2_Missense_Mutation_p.F803L	p.F816L	NM_001347	NP_001338	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		20	2520	-			816					Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	c.2446T>C	CCDS3342.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.326593	0.41197	.	.	ENSG00000145214	ENST00000273814	T	0.39787	1.06	5.27	5.27	0.74061	Diacylglycerol kinase, accessory domain (2);	0.045801	0.85682	D	0.000000	T	0.35278	0.0926	L	0.31065	0.9	0.58432	D	0.999996	B;B	0.24618	0.107;0.089	B;B	0.31191	0.125;0.057	T	0.21075	-1.0256	10	0.56958	D	0.05	.	13.1143	0.59292	1.0:0.0:0.0:0.0	.	816;816	E9KL49;P52824	.;DGKQ_HUMAN	L	816	ENSP00000273814:F816L	ENSP00000273814:F816L	F	-	1	0	DGKQ	945492	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	3.492000	0.53259	1.983000	0.57843	0.454000	0.30748	TTC		0.662	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			16	34	0	0	0	0	16	34				
JAKMIP1	152789	broad.mit.edu	37	4	6114560	6114560	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:6114560C>G	ENST00000282924.5	-	2	503	c.18G>C	c.(16-18)cgG>cgC	p.R6R	JAKMIP1_ENST00000409371.3_Silent_p.R6R|JAKMIP1_ENST00000409831.1_Silent_p.R6R|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000410077.2_Silent_p.R6R|JAKMIP1_ENST00000409021.3_Silent_p.R6R	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	6	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGCCCTTGCTCCGGCCTTTCT	0.632																																						uc003giu.3		NA																	0				large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(16-18)CGG>CGC		janus kinase and microtubule interacting protein							103.0	80.0	88.0					4																	6114560		2203	4300	6503	SO:0001819	synonymous_variant	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6114560C>G	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.18G>C	4.37:g.6114560C>G						JAKMIP1_uc010idb.1_Silent_p.R6R|JAKMIP1_uc010idc.1_Silent_p.R6R|JAKMIP1_uc010idd.1_Silent_p.R6R|JAKMIP1_uc011bwc.1_Silent_p.R6R|JAKMIP1_uc003giv.3_Silent_p.R6R|JAKMIP1_uc010ide.2_Silent_p.R6R	p.R6R	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN			2	294	-			6			Mediates association with microtubules.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	ENST00000282924.5	37	c.18G>C	CCDS3385.1																																																																																				0.632	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		24	44	0	0	0	0	24	44				
DRD5	1816	broad.mit.edu	37	4	9784235	9784235	+	Silent	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:9784235A>G	ENST00000304374.2	+	1	978	c.582A>G	c.(580-582)ccA>ccG	p.P194P		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	194					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TGGACCTGCCAAACAACCTGG	0.607																																						uc003gmb.3		NA																	0				skin(1)	1						c.(580-582)CCA>CCG		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						49.0	48.0	49.0					4																	9784235		2203	4300	6503	SO:0001819	synonymous_variant	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784235A>G	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.582A>G	4.37:g.9784235A>G							p.P194P	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	978	+			194			Extracellular (Potential).		B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.582A>G	CCDS3405.1																																																																																				0.607	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			38	49	0	0	0	0	38	49				
WDR19	57728	broad.mit.edu	37	4	39233560	39233560	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:39233560C>T	ENST00000399820.3	+	18	2280	c.2126C>T	c.(2125-2127)tCc>tTc	p.S709F	WDR19_ENST00000515631.1_3'UTR|WDR19_ENST00000288634.7_Missense_Mutation_p.S549F	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	709					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						ATAGTGATGTCCTTGGAACAA	0.348																																						uc003gtv.2		NA																	0				large_intestine(1)	1						c.(2125-2127)TCC>TTC		WD repeat domain 19							158.0	150.0	153.0					4																	39233560		1873	4107	5980	SO:0001583	missense	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39233560C>T	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.2126C>T	4.37:g.39233560C>T	ENSP00000382717:p.Ser709Phe					WDR19_uc011byi.1_Missense_Mutation_p.S549F|WDR19_uc003gtw.1_Missense_Mutation_p.S306F	p.S709F	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN			18	2280	+			709					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	37	c.2126C>T	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638383	0.87760	.	.	ENSG00000157796	ENST00000399820;ENST00000288634	D;D	0.89270	-2.49;-2.49	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.91355	0.7273	M	0.87180	2.865	0.80722	D	1	P	0.46621	0.881	P	0.46299	0.511	D	0.89924	0.4061	10	0.09338	T	0.73	-14.4236	19.0053	0.92848	0.0:1.0:0.0:0.0	.	709	Q8NEZ3	WDR19_HUMAN	F	709;549	ENSP00000382717:S709F;ENSP00000288634:S549F	ENSP00000288634:S549F	S	+	2	0	WDR19	38909955	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.404000	0.79996	2.490000	0.84030	0.491000	0.48974	TCC		0.348	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			29	78	0	0	0	0	29	78				
LRRC66	339977	broad.mit.edu	37	4	52860790	52860790	+	Missense_Mutation	SNP	C	C	T	rs552894125	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:52860790C>T	ENST00000343457.3	-	4	2404	c.2398G>A	c.(2398-2400)Gag>Aag	p.E800K		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	800						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GACAGGCCCTCAGATCTATCA	0.473																																						uc003gzi.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2398-2400)GAG>AAG		leucine rich repeat containing 66							48.0	49.0	49.0					4																	52860790		1880	4095	5975	SO:0001583	missense	339977					integral to membrane		g.chr4:52860790C>T	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2398G>A	4.37:g.52860790C>T	ENSP00000341944:p.Glu800Lys						p.E800K	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	2411	-			800						Missense_Mutation	SNP	ENST00000343457.3	37	c.2398G>A	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346891	0.61183	.	.	ENSG00000188993	ENST00000343457	T	0.35973	1.28	4.67	3.81	0.43845	.	0.136156	0.34088	N	0.004279	T	0.42449	0.1203	L	0.34521	1.04	0.09310	N	1	D	0.89917	1.0	D	0.67103	0.949	T	0.11966	-1.0566	10	0.62326	D	0.03	-14.5574	8.0189	0.30398	0.0:0.8926:0.0:0.1074	.	800	Q68CR7	LRC66_HUMAN	K	800	ENSP00000341944:E800K	ENSP00000341944:E800K	E	-	1	0	LRRC66	52555547	0.003000	0.15002	0.110000	0.21437	0.011000	0.07611	0.472000	0.22116	2.569000	0.86673	0.655000	0.94253	GAG		0.473	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		18	49	0	0	0	0	18	49				
RASL11B	65997	broad.mit.edu	37	4	53731941	53731941	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:53731941C>A	ENST00000248706.3	+	4	934	c.716C>A	c.(715-717)tCt>tAt	p.S239Y	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1			RAS-like, family 11, member B											autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			CAAGCCCTCTCTGCCAAAGTG	0.567																																						uc003gzt.2		NA																	0				central_nervous_system(1)	1						c.(715-717)TCT>TAT		RAS-like family 11 member B							55.0	51.0	52.0					4																	53731941		2203	4300	6503	SO:0001583	missense	65997				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	g.chr4:53731941C>A	BK001672	CCDS3490.1	4q12	2014-05-09			ENSG00000128045	ENSG00000128045			23804	protein-coding gene	gene with protein product		612404					Standard	NM_023940		Approved		uc003gzt.3	Q9BPW5	OTTHUMG00000102097	ENST00000248706.3:c.716C>A	4.37:g.53731941C>A	ENSP00000248706:p.Ser239Tyr						p.S239Y	NM_023940	NP_076429	Q9BPW5	RSLBB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0302)		4	896	+			239			Small GTPase-like.			Missense_Mutation	SNP	ENST00000248706.3	37	c.716C>A	CCDS3490.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580404	0.86645	.	.	ENSG00000128045	ENST00000248706	T	0.73152	-0.72	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.83571	0.5283	M	0.67397	2.05	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	D	0.84270	0.0488	10	0.87932	D	0	.	19.1747	0.93599	0.0:1.0:0.0:0.0	.	239	Q9BPW5	RSLBB_HUMAN	Y	239	ENSP00000248706:S239Y	ENSP00000248706:S239Y	S	+	2	0	RASL11B	53426698	1.000000	0.71417	0.914000	0.36105	0.915000	0.54546	7.487000	0.81328	2.775000	0.95449	0.655000	0.94253	TCT		0.567	RASL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219931.2	NM_023940		21	62	1	0	4.27e-12	4.5e-12	21	62				
PDGFRA	5156	broad.mit.edu	37	4	55136804	55136804	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:55136804C>T	ENST00000257290.5	+	8	1457	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	376	Ig-like C2-type 4.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TAAAAGGTATCGAAGCAAATT	0.318			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.3		NA		Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		0				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(1126-1128)CGA>TGA		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						113.0	116.0	115.0					4																	55136804		2203	4300	6503	SO:0001587	stop_gained	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55136804C>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1126C>T	4.37:g.55136804C>T	ENSP00000257290:p.Arg376*	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Nonsense_Mutation_p.R270*|PDGFRA_uc003ham.2_RNA	p.R376*	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		8	1457	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		376			Ig-like C2-type 4.|Extracellular (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Nonsense_Mutation	SNP	ENST00000257290.5	37	c.1126C>T	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	c	36	5.955893	0.97145	.	.	ENSG00000134853	ENST00000257290	.	.	.	5.84	5.84	0.93424	.	0.718117	0.10781	U	0.634841	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	20.1407	0.98058	0.0:1.0:0.0:0.0	.	.	.	.	X	376	.	ENSP00000257290:R376X	R	+	1	2	PDGFRA	54831561	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	2.656000	0.46716	2.763000	0.94921	0.651000	0.88453	CGA		0.318	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		26	91	0	0	0	0	26	91				
SRD5A3	79644	broad.mit.edu	37	4	56225583	56225583	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:56225583C>T	ENST00000264228.4	+	2	520	c.292C>T	c.(292-294)Ctg>Ttg	p.L98L	SRD5A3_ENST00000514398.1_3'UTR	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	98					androgen biosynthetic process (GO:0006702)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|polyprenol catabolic process (GO:0016095)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)		Spironolactone(DB00421)	TACTCAATCTCTGTTCCTGGG	0.478																																						uc003hau.2		NA																	0					0						c.(292-294)CTG>TTG		steroid 5 alpha-reductase 3							249.0	230.0	237.0					4																	56225583		2203	4300	6503	SO:0001819	synonymous_variant	79644				androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	g.chr4:56225583C>T	AK023414	CCDS3498.1	4q12	2009-07-21			ENSG00000128039	ENSG00000128039			25812	protein-coding gene	gene with protein product		611715				17986282	Standard	NM_024592		Approved	FLJ13352, SRD5A2L, SRD5A2L1	uc003hau.3	Q9H8P0	OTTHUMG00000128733	ENST00000264228.4:c.292C>T	4.37:g.56225583C>T							p.L98L	NM_024592	NP_078868	Q9H8P0	PORED_HUMAN	Epithelial(7;0.0179)		2	387	+	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		98			Helical; (Potential).		Q4W5Q6	Silent	SNP	ENST00000264228.4	37	c.292C>T	CCDS3498.1																																																																																				0.478	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250644.2	NM_024592		104	289	0	0	0	0	104	289				
CEP135	9662	broad.mit.edu	37	4	56847543	56847543	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:56847543G>C	ENST00000257287.4	+	13	1901	c.1777G>C	c.(1777-1779)Gag>Cag	p.E593Q		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	593					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AGAAAAATTAGAGGTAAGAAG	0.323																																						uc003hbi.2		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(1777-1779)GAG>CAG		centrosome protein 4							91.0	104.0	100.0					4																	56847543		2201	4295	6496	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56847543G>C	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.1777G>C	4.37:g.56847543G>C	ENSP00000257287:p.Glu593Gln					CEP135_uc003hbj.2_Missense_Mutation_p.E299Q	p.E593Q	NM_025009	NP_079285	Q66GS9	CP135_HUMAN			13	2011	+	Glioma(25;0.08)|all_neural(26;0.101)		593			Potential.		B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.1777G>C	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260907	0.39995	.	.	ENSG00000174799	ENST00000257287	T	0.44083	0.93	4.69	2.23	0.28157	.	0.043781	0.85682	D	0.000000	T	0.19644	0.0472	N	0.08118	0	0.22066	N	0.999382	B	0.18166	0.026	B	0.21360	0.034	T	0.16188	-1.0411	10	0.28530	T	0.3	.	6.662	0.23018	0.7609:0.1547:0.0843:0.0	.	593	Q66GS9	CP135_HUMAN	Q	593	ENSP00000257287:E593Q	ENSP00000257287:E593Q	E	+	1	0	CEP135	56542300	1.000000	0.71417	0.143000	0.22291	0.399000	0.30720	3.043000	0.49823	0.259000	0.21709	-0.499000	0.04595	GAG		0.323	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		50	164	0	0	0	0	50	164				
UGT2B4	7363	broad.mit.edu	37	4	70361538	70361538	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:70361538C>T	ENST00000305107.6	-	1	88	c.42G>A	c.(40-42)ctG>ctA	p.L14L	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Silent_p.L14L	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	14					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)	AGTAACAGCTCAGCTGTATCA	0.453																																						uc003hek.3		NA																	0				skin(2)	2						c.(40-42)CTG>CTA		UDP glucuronosyltransferase 2B4 precursor							152.0	150.0	150.0					4																	70361538		2203	4300	6503	SO:0001819	synonymous_variant	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70361538C>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.42G>A	4.37:g.70361538C>T						UGT2B4_uc011cap.1_Intron|UGT2B4_uc003hel.3_Silent_p.L14L	p.L14L	NM_021139	NP_066962	P06133	UD2B4_HUMAN			1	89	-			14					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Silent	SNP	ENST00000305107.6	37	c.42G>A	CCDS43234.1																																																																																				0.453	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		83	228	0	0	0	0	83	228				
UGT2A1	10941	broad.mit.edu	37	4	70512724	70512724	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:70512724G>C	ENST00000503640.1	-	1	694	c.639C>G	c.(637-639)ttC>ttG	p.F213L	UGT2A1_ENST00000286604.4_Missense_Mutation_p.F213L|UGT2A1_ENST00000512704.1_Missense_Mutation_p.F213L|UGT2A1_ENST00000514019.1_Missense_Mutation_p.F213L	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	213					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GGTAGGAGATGAAATTTCTTA	0.368																																						uc003hem.3		NA																	0				ovary(1)	1						c.(637-639)TTC>TTG		UDP glucuronosyltransferase 2 family,							82.0	77.0	78.0					4																	70512724		2203	4299	6502	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity	g.chr4:70512724G>C	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.639C>G	4.37:g.70512724G>C	ENSP00000424478:p.Phe213Leu					UGT2A1_uc011caq.1_Missense_Mutation_p.F213L|UGT2A1_uc010ihu.2_Missense_Mutation_p.F213L|UGT2A1_uc010iht.2_Missense_Mutation_p.F213L	p.F213L	NM_006798	NP_006789	Q9Y4X1	UD2A1_HUMAN			1	702	-			213			Extracellular (Potential).		B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.639C>G	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213154	0.39102	.	.	ENSG00000173610	ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T	0.61158	0.33;0.13;0.33;0.33	5.78	-1.2	0.09554	.	0.166893	0.53938	D	0.000055	T	0.36358	0.0964	N	0.20328	0.56	.	.	.	B;P;B;B	0.39535	0.021;0.677;0.0;0.001	B;B;B;B	0.36186	0.022;0.219;0.001;0.002	T	0.44832	-0.9302	9	0.48119	T	0.1	.	10.9695	0.47431	0.4851:0.0:0.5149:0.0	.	213;213;213;213	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1	.;.;.;UD2A1_HUMAN	L	213	ENSP00000424478:F213L;ENSP00000421432:F213L;ENSP00000425497:F213L;ENSP00000286604:F213L	ENSP00000286604:F213L	F	-	3	2	UGT2A1	70547313	0.948000	0.32251	0.875000	0.34327	0.986000	0.74619	0.016000	0.13377	-0.340000	0.08388	-0.229000	0.12294	TTC		0.368	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		35	124	0	0	0	0	35	124				
GC	2638	broad.mit.edu	37	4	72634073	72634073	+	Missense_Mutation	SNP	G	G	C	rs267600245		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:72634073G>C	ENST00000273951.8	-	3	549	c.206C>G	c.(205-207)tCc>tGc	p.S69C	GC_ENST00000513476.1_Missense_Mutation_p.S69C|GC_ENST00000504199.1_Missense_Mutation_p.S88C|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	69	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	TTCGGTCAAGGAGACAACTTC	0.522																																						uc003hge.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(205-207)TCC>TGC		vitamin D-binding protein precursor	Cholecalciferol(DB00169)						67.0	59.0	61.0					4																	72634073		2203	4300	6503	SO:0001583	missense	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72634073G>C	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.206C>G	4.37:g.72634073G>C	ENSP00000273951:p.Ser69Cys					GC_uc003hgd.2_5'UTR|GC_uc010iie.2_Missense_Mutation_p.S69C|GC_uc010iif.2_Missense_Mutation_p.S88C	p.S69C	NM_000583	NP_000574	P02774	VTDB_HUMAN	Lung(101;0.148)		3	359	-		all_hematologic(202;0.107)	69			Albumin 1.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	ENST00000273951.8	37	c.206C>G	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041068	0.55003	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476;ENST00000506245	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	6.04	5.21	0.72293	.	0.199280	0.45126	D	0.000392	D	0.83069	0.5174	M	0.75447	2.3	0.46725	D	0.99917	D;D	0.76494	0.997;0.999	P;P	0.57468	0.792;0.821	D	0.85618	0.1262	10	0.87932	D	0	.	14.9877	0.71362	0.0685:0.0:0.9315:0.0	.	88;69	D6RAK8;D6RF35	.;.	C	69;88;69;69	ENSP00000273951:S69C;ENSP00000421725:S88C;ENSP00000426683:S69C;ENSP00000426718:S69C	ENSP00000273951:S69C	S	-	2	0	GC	72852937	1.000000	0.71417	1.000000	0.80357	0.238000	0.25445	4.144000	0.58057	1.578000	0.49821	-0.253000	0.11424	TCC		0.522	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			15	41	0	0	0	0	15	41				
FRAS1	80144	broad.mit.edu	37	4	79321968	79321968	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:79321968C>T	ENST00000325942.6	+	30	4496	c.4056C>T	c.(4054-4056)atC>atT	p.I1352I	FRAS1_ENST00000264895.6_Silent_p.I1352I	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1352					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCAACAGAATCTTACAGGCCG	0.458																																						uc003hlb.2		NA																	0				large_intestine(5)	5						c.(4054-4056)ATC>ATT		Fraser syndrome 1							75.0	78.0	77.0					4																	79321968		1921	4125	6046	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79321968C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4056C>T	4.37:g.79321968C>T						FRAS1_uc003hkw.2_Silent_p.I1352I	p.I1352I	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			30	4496	+			1351			CSPG 3.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	c.4056C>T	CCDS54772.1																																																																																				0.458	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			18	47	0	0	0	0	18	47				
FGF5	2250	broad.mit.edu	37	4	81188026	81188026	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:81188026C>T	ENST00000312465.7	+	1	274	c.48C>T	c.(46-48)ctC>ctT	p.L16L	FGF5_ENST00000456523.3_Silent_p.L16L	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	16					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						ACCTGATCCTCAGCGCCTGGG	0.612																																						uc003hmd.2		NA																	0				ovary(1)|breast(1)	2						c.(46-48)CTC>CTT		fibroblast growth factor 5 isoform 1 precursor							41.0	45.0	43.0					4																	81188026		2203	4300	6503	SO:0001819	synonymous_variant	2250				cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	g.chr4:81188026C>T	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.48C>T	4.37:g.81188026C>T						FGF5_uc003hme.2_Silent_p.L16L	p.L16L	NM_004464	NP_004455	P12034	FGF5_HUMAN			1	285	+			16					B2R554|O75846|Q3Y8M3|Q8NF90	Silent	SNP	ENST00000312465.7	37	c.48C>T	CCDS34021.1																																																																																				0.612	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			26	93	0	0	0	0	26	93				
HPSE	10855	broad.mit.edu	37	4	84234362	84234362	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:84234362C>G	ENST00000405413.2	-	5	714	c.578G>C	c.(577-579)aGa>aCa	p.R193T	HPSE_ENST00000513463.1_Intron|HPSE_ENST00000311412.5_Missense_Mutation_p.R193T|HPSE_ENST00000512196.1_Missense_Mutation_p.R193T	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	193					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	ATCTGCTGTTCTTAATAACGC	0.423																																						uc003hoj.3		NA																	0				ovary(1)	1						c.(577-579)AGA>ACA		heparanase precursor	Heparin(DB01109)						118.0	107.0	111.0					4																	84234362		2203	4300	6503	SO:0001583	missense	10855				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	g.chr4:84234362C>G	AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.578G>C	4.37:g.84234362C>G	ENSP00000384262:p.Arg193Thr					HPSE_uc010ika.2_Intron|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Intron|HPSE_uc011cct.1_Missense_Mutation_p.R193T|HPSE_uc003hok.3_Missense_Mutation_p.R193T	p.R193T	NM_001098540	NP_001092010	Q9Y251	HPSE_HUMAN		COAD - Colon adenocarcinoma(81;0.141)	4	677	-		Hepatocellular(203;0.114)	193					A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	c.578G>C	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054275	0.75960	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000512196	T;T;T	0.28454	1.61;1.61;1.61	4.48	4.48	0.54585	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.053512	0.64402	D	0.000002	T	0.60689	0.2288	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.998;1.0	T	0.63585	-0.6604	10	0.25106	T	0.35	-11.9308	16.9286	0.86183	0.0:1.0:0.0:0.0	.	193;193	E9PCA9;Q9Y251	.;HPSE_HUMAN	T	193	ENSP00000308107:R193T;ENSP00000384262:R193T;ENSP00000423265:R193T	ENSP00000308107:R193T	R	-	2	0	HPSE	84453386	0.998000	0.40836	0.038000	0.18304	0.951000	0.60555	6.984000	0.76186	2.337000	0.79520	0.484000	0.47621	AGA		0.423	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665		32	58	0	0	0	0	32	58				
WDFY3	23001	broad.mit.edu	37	4	85617224	85617224	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:85617224G>C	ENST00000295888.4	-	58	9207	c.8800C>G	c.(8800-8802)Ctt>Gtt	p.L2934V	WDFY3_ENST00000322366.6_Missense_Mutation_p.L2917V	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2934	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.|Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCATAAAAAAGATGATGGAAG	0.413																																						uc003hpd.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(8800-8802)CTT>GTT		WD repeat and FYVE domain containing 3 isoform							112.0	108.0	109.0					4																	85617224		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85617224G>C	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.8800C>G	4.37:g.85617224G>C	ENSP00000295888:p.Leu2934Val					WDFY3_uc003hpe.1_Missense_Mutation_p.L545V	p.L2934V	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	58	9208	-		Hepatocellular(203;0.114)	2934			BEACH.		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.8800C>G	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627532	0.87560	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.66638	-0.22;-0.22;-0.22	5.44	5.44	0.79542	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.83524	0.5273	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85354	0.1103	10	0.72032	D	0.01	.	19.2822	0.94055	0.0:0.0:1.0:0.0	.	2934	Q8IZQ1	WDFY3_HUMAN	V	2917;2934;537	ENSP00000318466:L2917V;ENSP00000295888:L2934V;ENSP00000424987:L537V	ENSP00000295888:L2934V	L	-	1	0	WDFY3	85836248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.783000	0.75078	2.548000	0.85928	0.591000	0.81541	CTT		0.413	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		49	139	0	0	0	0	49	139				
WDFY3	23001	broad.mit.edu	37	4	85617288	85617288	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:85617288G>C	ENST00000295888.4	-	58	9143	c.8736C>G	c.(8734-8736)gaC>gaG	p.D2912E	WDFY3_ENST00000322366.6_Missense_Mutation_p.D2895E	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2912	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.|Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CGAAGATTAAGTCAATCCACT	0.408																																						uc003hpd.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(8734-8736)GAC>GAG		WD repeat and FYVE domain containing 3 isoform							125.0	117.0	120.0					4																	85617288		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85617288G>C	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.8736C>G	4.37:g.85617288G>C	ENSP00000295888:p.Asp2912Glu					WDFY3_uc003hpe.1_Missense_Mutation_p.D523E	p.D2912E	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	58	9144	-		Hepatocellular(203;0.114)	2912			BEACH.		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.8736C>G	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973450	0.74246	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	D;D;D	0.90133	-2.62;-2.62;-2.62	5.44	3.72	0.42706	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.96528	0.8867	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95455	0.8538	10	0.66056	D	0.02	.	9.1501	0.36957	0.2801:0.0:0.7199:0.0	.	2912	Q8IZQ1	WDFY3_HUMAN	E	2895;2912;515	ENSP00000318466:D2895E;ENSP00000295888:D2912E;ENSP00000424987:D515E	ENSP00000295888:D2912E	D	-	3	2	WDFY3	85836312	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.657000	0.54474	0.676000	0.31285	0.591000	0.81541	GAC		0.408	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		51	169	0	0	0	0	51	169				
ARHGAP24	83478	broad.mit.edu	37	4	86916572	86916572	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:86916572G>A	ENST00000395184.1	+	9	2231	c.1765G>A	c.(1765-1767)Gag>Aag	p.E589K	ARHGAP24_ENST00000264343.4_Missense_Mutation_p.E496K|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.E494K	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	589					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GGGGAACTTTGAGGACCCTGT	0.557																																						uc003hpk.2		NA																	0					0						c.(1765-1767)GAG>AAG		Rho GTPase activating protein 24 isoform 1							69.0	72.0	71.0					4																	86916572		2203	4300	6503	SO:0001583	missense	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86916572G>A	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.1765G>A	4.37:g.86916572G>A	ENSP00000378611:p.Glu589Lys					ARHGAP24_uc003hpl.2_Missense_Mutation_p.E494K|ARHGAP24_uc010ikf.2_Missense_Mutation_p.E504K|ARHGAP24_uc003hpm.2_Missense_Mutation_p.E496K	p.E589K	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	9	2214	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	589					Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	ENST00000395184.1	37	c.1765G>A	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881601	0.91740	.	.	ENSG00000138639	ENST00000395184;ENST00000395183;ENST00000514229;ENST00000264343	T;T;T;T	0.14893	2.82;2.48;2.47;2.47	5.73	4.88	0.63580	.	0.049484	0.85682	D	0.000000	T	0.32556	0.0833	M	0.65975	2.015	0.58432	D	0.999994	P;D;P	0.53745	0.94;0.962;0.952	P;P;P	0.54629	0.757;0.7;0.53	T	0.01059	-1.1465	10	0.39692	T	0.17	.	15.1383	0.72586	0.0692:0.0:0.9308:0.0	.	494;496;589	Q8N264-3;Q8N264-2;Q8N264	.;.;RHG24_HUMAN	K	589;494;504;496	ENSP00000378611:E589K;ENSP00000378610:E494K;ENSP00000425589:E504K;ENSP00000264343:E496K	ENSP00000264343:E496K	E	+	1	0	ARHGAP24	87135596	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.368000	0.79567	2.710000	0.92621	0.491000	0.48974	GAG		0.557	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		51	130	0	0	0	0	51	130				
HERC5	51191	broad.mit.edu	37	4	89421102	89421102	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:89421102G>C	ENST00000264350.3	+	19	2623	c.2470G>C	c.(2470-2472)Gaa>Caa	p.E824Q	HERC5_ENST00000508159.1_Missense_Mutation_p.E462Q	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	824	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TCTGGATGATGAAGGTGATAA	0.289																																					Esophageal Squamous(39;887 1012 34045 50514)	uc003hrt.2		NA																	0				ovary(4)|lung(3)|skin(2)	9						c.(2470-2472)GAA>CAA		hect domain and RLD 5							96.0	103.0	101.0					4																	89421102		2202	4299	6501	SO:0001583	missense	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89421102G>C	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.2470G>C	4.37:g.89421102G>C	ENSP00000264350:p.Glu824Gln					HERC5_uc011cdm.1_Missense_Mutation_p.E462Q	p.E824Q	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	19	2623	+		Hepatocellular(203;0.114)	824			HECT.		B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	c.2470G>C	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	G	8.519	0.868315	0.17250	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.57436	0.4;0.4	3.94	3.94	0.45596	HECT (4);	0.211174	0.30028	N	0.010582	T	0.54711	0.1875	L	0.48260	1.515	0.25392	N	0.988518	B	0.32893	0.389	P	0.46208	0.507	T	0.49409	-0.8943	10	0.33940	T	0.23	.	11.7588	0.51890	0.0:0.0:1.0:0.0	.	824	Q9UII4	HERC5_HUMAN	Q	824;462	ENSP00000264350:E824Q;ENSP00000424129:E462Q	ENSP00000264350:E824Q	E	+	1	0	HERC5	89640125	1.000000	0.71417	0.985000	0.45067	0.012000	0.07955	3.294000	0.51787	2.494000	0.84150	0.585000	0.79938	GAA		0.289	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		29	103	0	0	0	0	29	103				
NAP1L5	266812	broad.mit.edu	37	4	89618627	89618627	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:89618627C>G	ENST00000323061.5	-	1	759	c.279G>C	c.(277-279)aaG>aaC	p.K93N	HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	93					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TGGCTTCTATCTTATCGCATC	0.458																																						uc003hrx.2		NA																	0				skin(1)	1						c.(277-279)AAG>AAC		nucleosome assembly protein 1-like 5							85.0	92.0	90.0					4																	89618627		2203	4300	6503	SO:0001583	missense	266812				nucleosome assembly	nucleus	protein binding	g.chr4:89618627C>G	NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.279G>C	4.37:g.89618627C>G	ENSP00000320488:p.Lys93Asn					HERC3_uc003hrw.1_Intron|HERC3_uc011cdn.1_Intron|HERC3_uc011cdo.1_Intron	p.K93N	NM_153757	NP_715638	Q96NT1	NP1L5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000181)	1	397	-			93			Potential.			Missense_Mutation	SNP	ENST00000323061.5	37	c.279G>C	CCDS3632.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007522	0.35415	.	.	ENSG00000177432	ENST00000323061;ENST00000539293	T	0.46063	0.88	3.78	2.92	0.33932	.	.	.	.	.	T	0.34193	0.0889	L	0.39245	1.2	0.29439	N	0.859286	B	0.26258	0.145	B	0.33042	0.157	T	0.31308	-0.9948	9	0.30078	T	0.28	-2.5459	7.3352	0.26605	0.0:0.8762:0.0:0.1238	.	93	Q96NT1	NP1L5_HUMAN	N	93	ENSP00000320488:K93N	ENSP00000320488:K93N	K	-	3	2	NAP1L5	89837650	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.534000	0.36051	0.952000	0.37798	0.573000	0.79308	AAG		0.458	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1	NM_153757		68	138	0	0	0	0	68	138				
ADH5	128	broad.mit.edu	37	4	100006310	100006310	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:100006310C>T	ENST00000296412.8	-	2	120	c.70G>A	c.(70-72)Gag>Aag	p.E24K	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide											endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)		ACCTCTATCTCCTCTATGGAG	0.453																																						uc003hui.2		NA																	0				ovary(1)	1						c.(70-72)GAG>AAG		class III alcohol dehydrogenase, chi subunit	NADH(DB00157)						38.0	36.0	37.0					4																	100006310		1829	4094	5923	SO:0001583	missense	128				ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding	g.chr4:100006310C>T	M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	1.1.1.284	"""Alcohol dehydrogenases"""	253	protein-coding gene	gene with protein product		103710	"""formaldehyde dehydrogenase"""	FDH		1446828, 6424546	Standard	NM_000671		Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230	ENST00000296412.8:c.70G>A	4.37:g.100006310C>T	ENSP00000296412:p.Glu24Lys					ADH5_uc003huk.1_Missense_Mutation_p.E24K|ADH5_uc003huj.2_5'UTR	p.E24K	NM_000671	NP_000662	P11766	ADHX_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	2	150	-			24						Missense_Mutation	SNP	ENST00000296412.8	37	c.70G>A	CCDS47111.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375637	0.82682	.	.	ENSG00000197894	ENST00000296412;ENST00000503130	T;T	0.04049	3.72;3.72	5.16	5.16	0.70880	GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.10981	0.0268	M	0.81341	2.54	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.10450	0.005;0.005	T	0.07790	-1.0754	9	.	.	.	-25.3868	18.8306	0.92137	0.0:1.0:0.0:0.0	.	24;24	Q5U043;P11766	.;ADHX_HUMAN	K	24;20	ENSP00000296412:E24K;ENSP00000427049:E20K	.	E	-	1	0	ADH5	100225333	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.146000	0.77373	2.669000	0.90835	0.563000	0.77884	GAG		0.453	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364224.1	NM_000671		10	6	0	0	0	0	10	6				
CENPE	1062	broad.mit.edu	37	4	104054926	104054926	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:104054926G>A	ENST00000265148.3	-	41	6735	c.6646C>T	c.(6646-6648)Caa>Taa	p.Q2216*	CENPE_ENST00000380026.3_Nonsense_Mutation_p.Q2095*	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2216	Kinetochore-binding domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CAATCTTGTTGAAGGTGCTGT	0.289																																						uc003hxb.1		NA																	0				ovary(5)|breast(4)	9						c.(6646-6648)CAA>TAA		centromere protein E							125.0	116.0	119.0					4																	104054926		2202	4297	6499	SO:0001587	stop_gained	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104054926G>A	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.6646C>T	4.37:g.104054926G>A	ENSP00000265148:p.Gln2216*					CENPE_uc003hxc.1_Nonsense_Mutation_p.Q2095*	p.Q2216*	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	41	6736	-			2216			Kinetochore-binding domain.|Potential.		A6NKY9|A8K2U7|Q4LE75	Nonsense_Mutation	SNP	ENST00000265148.3	37	c.6646C>T	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	46	12.889281	0.99704	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	.	.	.	5.08	4.22	0.49857	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	8.7055	0.34351	0.1071:0.0:0.8929:0.0	.	.	.	.	X	2216;2180;2095	.	ENSP00000265148:Q2216X	Q	-	1	0	CENPE	104274375	0.069000	0.21087	1.000000	0.80357	0.928000	0.56348	1.056000	0.30480	1.106000	0.41623	0.637000	0.83480	CAA		0.289	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				13	32	0	0	0	0	13	32				
ANK2	287	broad.mit.edu	37	4	114280341	114280341	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:114280341G>C	ENST00000357077.4	+	38	10620	c.10567G>C	c.(10567-10569)Gag>Cag	p.E3523Q	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E3490Q|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3523					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCCACCTGTTGAGACCGAGCA	0.468																																						uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(10567-10569)GAG>CAG		ankyrin 2 isoform 1							112.0	112.0	112.0					4																	114280341		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114280341G>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10567G>C	4.37:g.114280341G>C	ENSP00000349588:p.Glu3523Gln					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.E825Q|ANK2_uc011cgb.1_Missense_Mutation_p.E3538Q	p.E3523Q	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	10667	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3490					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.10567G>C	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786293	0.49997	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.96104	-0.28;-0.29;-3.91	5.86	5.86	0.93980	.	0.109105	0.40064	N	0.001193	D	0.94341	0.8181	L	0.55481	1.735	0.80722	D	1	P;P	0.47409	0.895;0.808	B;P	0.44359	0.422;0.447	D	0.92266	0.5821	10	0.15066	T	0.55	.	20.1996	0.98256	0.0:0.0:1.0:0.0	.	3490;3523	Q01484;Q01484-4	ANK2_HUMAN;.	Q	3523;3490;533	ENSP00000349588:E3523Q;ENSP00000264366:E3490Q;ENSP00000422498:E533Q	ENSP00000264366:E3490Q	E	+	1	0	ANK2	114499790	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.493000	0.81493	2.776000	0.95493	0.650000	0.86243	GAG		0.468	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		56	152	0	0	0	0	56	152				
PRSS12	8492	broad.mit.edu	37	4	119256647	119256647	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:119256647G>C	ENST00000296498.3	-	3	1083	c.801C>G	c.(799-801)gtC>gtG	p.V267V		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	267	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AGCTACACGTGACAGCAGCTG	0.403																																						uc003ica.1		NA																	0				skin(1)	1						c.(799-801)GTC>GTG		neurotrypsin precursor							121.0	116.0	118.0					4																	119256647		2203	4300	6503	SO:0001819	synonymous_variant	8492					membrane	scavenger receptor activity	g.chr4:119256647G>C	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.801C>G	4.37:g.119256647G>C							p.V267V	NM_003619	NP_003610	P56730	NETR_HUMAN			3	848	-			267			SRCR 1.		Q9UP16	Silent	SNP	ENST00000296498.3	37	c.801C>G	CCDS3709.1																																																																																				0.403	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			32	134	0	0	0	0	32	134				
PDE5A	8654	broad.mit.edu	37	4	120419875	120419875	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:120419875C>G	ENST00000354960.3	-	21	2828	c.2509G>C	c.(2509-2511)Gag>Cag	p.E837Q	PDE5A_ENST00000394439.1_Missense_Mutation_p.E785Q|PDE5A_ENST00000264805.5_Missense_Mutation_p.E795Q|RP11-33B1.1_ENST00000498873.1_RNA	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	837	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.E837K(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	AAACAGTCCTCTGACACGTGG	0.502																																						uc003idh.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2509-2511)GAG>CAG		phosphodiesterase 5A isoform 1	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						93.0	92.0	92.0					4																	120419875		2203	4300	6503	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120419875C>G	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.2509G>C	4.37:g.120419875C>G	ENSP00000347046:p.Glu837Gln					uc003ide.3_Intron|PDE5A_uc003idf.2_Missense_Mutation_p.E795Q|PDE5A_uc003idg.2_Missense_Mutation_p.E785Q	p.E837Q	NM_001083	NP_001074	O76074	PDE5A_HUMAN			21	2664	-			837			Catalytic (By similarity).		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.2509G>C	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.291126	0.59976	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	D;D;D	0.82803	-1.65;-1.65;-1.65	5.31	4.47	0.54385	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.150726	0.64402	D	0.000016	D	0.84460	0.5477	L	0.41824	1.3	0.58432	D	0.999998	P;D	0.65815	0.764;0.995	P;P	0.57620	0.68;0.824	D	0.84725	0.0742	10	0.49607	T	0.09	.	13.9636	0.64196	0.0:0.9268:0.0:0.0732	.	837;795	O76074;O76074-2	PDE5A_HUMAN;.	Q	837;785;795	ENSP00000347046:E837Q;ENSP00000377957:E785Q;ENSP00000264805:E795Q	ENSP00000264805:E795Q	E	-	1	0	PDE5A	120639323	0.842000	0.29525	0.828000	0.32881	0.819000	0.46315	1.805000	0.38883	1.234000	0.43709	0.467000	0.42956	GAG		0.502	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		50	138	0	0	0	0	50	138				
KIAA1109	84162	broad.mit.edu	37	4	123167863	123167863	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:123167863C>T	ENST00000264501.4	+	34	5583	c.5210C>T	c.(5209-5211)tCa>tTa	p.S1737L	KIAA1109_ENST00000455637.1_Missense_Mutation_p.S1737L|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S1737L			Q2LD37	K1109_HUMAN	KIAA1109	1737					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTACAAGCCTCAGTGGAAGAA	0.378																																						uc003ieh.2		NA																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(5209-5211)TCA>TTA		fragile site-associated protein							122.0	119.0	120.0					4																	123167863		1861	4100	5961	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123167863C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.5210C>T	4.37:g.123167863C>T	ENSP00000264501:p.Ser1737Leu					KIAA1109_uc003iek.2_Missense_Mutation_p.S356L	p.S1737L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			32	5255	+			1737					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.5210C>T	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.613175|5.613175	0.96637|0.96637	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000446180|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.49432	.|1.48;1.48;0.78	6.1|6.1	6.1|6.1	0.99115|0.99115	.|.	.|0.000000	.|0.41712	.|U	.|0.000829	.|T	.|0.59059	.|0.2166	N|N	0.24115|0.24115	0.695|0.695	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.63880	.|0.989;0.993	.|D;D	.|0.75020	.|0.985;0.977	.|T	.|0.60747	.|-0.7202	.|10	.|0.72032	.|D	.|0.01	.|.	20.7146|20.7146	0.99709|0.99709	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1736;1737	.|Q2LD37-2;Q2LD37	.|.;K1109_HUMAN	X|L	310|1737	.|ENSP00000264501:S1737L;ENSP00000373390:S1737L;ENSP00000389925:S1737L	.|ENSP00000264501:S1737L	Q|S	+|+	1|2	0|0	KIAA1109|KIAA1109	123387313|123387313	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.614000|7.614000	0.82996|0.82996	2.902000|2.902000	0.99343|0.99343	0.650000|0.650000	0.86243|0.86243	CAG|TCA		0.378	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		30	124	0	0	0	0	30	124				
KIAA1109	84162	broad.mit.edu	37	4	123245661	123245661	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:123245661G>A	ENST00000264501.4	+	64	11247	c.10874G>A	c.(10873-10875)aGa>aAa	p.R3625K	KIAA1109_ENST00000455637.1_Missense_Mutation_p.R3625K|KIAA1109_ENST00000388738.3_Missense_Mutation_p.R3625K			Q2LD37	K1109_HUMAN	KIAA1109	3625					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCTTCTGGAAGACCACCTCTT	0.378																																						uc003ieh.2		NA																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(10873-10875)AGA>AAA		fragile site-associated protein							83.0	73.0	76.0					4																	123245661		1828	4095	5923	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123245661G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.10874G>A	4.37:g.123245661G>A	ENSP00000264501:p.Arg3625Lys					KIAA1109_uc003iel.1_Missense_Mutation_p.R1560K|KIAA1109_uc003iem.2_5'UTR	p.R3625K	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			62	10919	+			3625					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.10874G>A	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.284969|5.284969	0.95517|0.95517	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000455637;ENST00000438707	.|T;T;T;T	.|0.33865	.|2.46;2.46;1.89;1.39	5.83|5.83	4.96|4.96	0.65561|0.65561	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.27454|0.27454	0.0674|0.0674	L|L	0.34521|0.34521	1.04|1.04	0.47123|0.47123	D|D	0.999329|0.999329	.|B;P	.|0.34800	.|0.058;0.469	.|B;B	.|0.29862	.|0.037;0.108	T|T	0.04140|0.04140	-1.0974|-1.0974	5|10	.|0.21540	.|T	.|0.41	.|.	17.0301|17.0301	0.86458|0.86458	0.0:0.1266:0.8734:0.0|0.0:0.1266:0.8734:0.0	.|.	.|3625;3625	.|Q2LD37-6;Q2LD37	.|.;K1109_HUMAN	N|K	15|3625;3625;3625;308	.|ENSP00000264501:R3625K;ENSP00000373390:R3625K;ENSP00000389925:R3625K;ENSP00000410874:R308K	.|ENSP00000264501:R3625K	D|R	+|+	1|2	0|0	KIAA1109|KIAA1109	123465111|123465111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.394000|9.394000	0.97261|0.97261	2.741000|2.741000	0.93983|0.93983	0.655000|0.655000	0.94253|0.94253	GAC|AGA		0.378	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		18	78	0	0	0	0	18	78				
FAT4	79633	broad.mit.edu	37	4	126329825	126329825	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:126329825C>T	ENST00000394329.3	+	4	5809	c.5796C>T	c.(5794-5796)ttC>ttT	p.F1932F	FAT4_ENST00000335110.5_Silent_p.F230F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1932	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAGTTTATTTCAATATTCTAG	0.348																																						uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(5794-5796)TTC>TTT		FAT tumor suppressor homolog 4 precursor							100.0	104.0	102.0					4																	126329825		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126329825C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5796C>T	4.37:g.126329825C>T						FAT4_uc011cgp.1_Silent_p.F230F	p.F1932F	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			4	5796	+			1932			Cadherin 18.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.5796C>T	CCDS3732.3																																																																																				0.348	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		50	149	0	0	0	0	50	149				
FAT4	79633	broad.mit.edu	37	4	126411784	126411784	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:126411784G>C	ENST00000394329.3	+	17	13820	c.13807G>C	c.(13807-13809)Gaa>Caa	p.E4603Q	FAT4_ENST00000335110.5_Missense_Mutation_p.E2844Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4603					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCACAACTCAGAAACCATCCC	0.493																																						uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(13807-13809)GAA>CAA		FAT tumor suppressor homolog 4 precursor							78.0	84.0	82.0					4																	126411784		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411784G>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13807G>C	4.37:g.126411784G>C	ENSP00000377862:p.Glu4603Gln					FAT4_uc011cgp.1_Missense_Mutation_p.E2844Q|FAT4_uc003ifi.1_Missense_Mutation_p.E2080Q	p.E4603Q	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			17	13807	+			4603			Cytoplasmic (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.13807G>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	11.87	1.767690	0.31320	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.74632	-0.68;-0.86	4.95	4.95	0.65309	.	0.000000	0.34531	U	0.003899	T	0.77150	0.4088	L	0.36672	1.1	0.54753	D	0.999989	D;D;D	0.69078	0.997;0.997;0.997	P;P;P	0.62298	0.9;0.879;0.9	T	0.71768	-0.4493	10	0.12430	T	0.62	.	17.186	0.86867	0.0:0.0:1.0:0.0	.	2844;4603;4602	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	Q	4603;2844	ENSP00000377862:E4603Q;ENSP00000335169:E2844Q	ENSP00000335169:E2844Q	E	+	1	0	FAT4	126631234	1.000000	0.71417	0.697000	0.30258	0.679000	0.39708	9.440000	0.97547	2.275000	0.75901	0.561000	0.74099	GAA		0.493	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		23	74	0	0	0	0	23	74				
INTU	27152	broad.mit.edu	37	4	128626859	128626859	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:128626859C>G	ENST00000335251.6	+	11	1783	c.1680C>G	c.(1678-1680)atC>atG	p.I560M	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	560					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GTCAGTTGATCATATGGAGAG	0.443																																						uc003ifk.1		NA																	0				ovary(1)	1						c.(1678-1680)ATC>ATG		PDZ domain containing 6							180.0	165.0	170.0					4																	128626859		2203	4300	6503	SO:0001583	missense	27152							g.chr4:128626859C>G	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.1680C>G	4.37:g.128626859C>G	ENSP00000334003:p.Ile560Met					INTU_uc011cgq.1_RNA	p.I560M	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN			11	1750	+			560					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	c.1680C>G	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	A	7.565	0.665547	0.14710	.	.	ENSG00000164066	ENST00000335251;ENST00000506283	T;T	0.33438	1.59;1.41	5.36	0.0952	0.14484	.	0.132588	0.50627	D	0.000103	T	0.27454	0.0674	L	0.40543	1.245	0.80722	D	1	B	0.33919	0.432	B	0.44278	0.445	T	0.08806	-1.0704	10	0.87932	D	0	-10.6784	3.9641	0.09423	0.3012:0.451:0.1528:0.0951	.	560	Q9ULD6	PDZD6_HUMAN	M	560;74	ENSP00000334003:I560M;ENSP00000426171:I74M	ENSP00000334003:I560M	I	+	3	3	INTU	128846309	1.000000	0.71417	0.995000	0.50966	0.445000	0.32107	0.838000	0.27572	-0.218000	0.10018	-0.520000	0.04383	ATC		0.443	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		29	319	0	0	0	0	29	319				
MFSD8	256471	broad.mit.edu	37	4	128863250	128863250	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:128863250G>C	ENST00000296468.3	-	6	630	c.503C>G	c.(502-504)tCc>tGc	p.S168C	MFSD8_ENST00000541133.1_Missense_Mutation_p.S123C|MFSD8_ENST00000513559.1_Missense_Mutation_p.S123C|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	168					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GTTTGCCATGGAACTTGTTCT	0.353																																						uc003ifp.2		NA																	0				ovary(1)|liver(1)	2						c.(502-504)TCC>TGC		major facilitator superfamily domain containing							203.0	181.0	188.0					4																	128863250		2203	4300	6503	SO:0001583	missense	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128863250G>C	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.503C>G	4.37:g.128863250G>C	ENSP00000296468:p.Ser168Cys					MFSD8_uc011cgu.1_Missense_Mutation_p.S123C|MFSD8_uc011cgv.1_Intron|MFSD8_uc011cgw.1_Intron|MFSD8_uc011cgx.1_Missense_Mutation_p.S123C	p.S168C	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN			6	666	-			168			Cytoplasmic (Potential).		B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	ENST00000296468.3	37	c.503C>G	CCDS3736.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018987	0.54576	.	.	ENSG00000164073	ENST00000296468;ENST00000513559;ENST00000541133	T;T;T	0.58060	0.36;0.36;0.36	4.86	4.86	0.63082	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.171100	0.50627	D	0.000102	T	0.56093	0.1962	N	0.24115	0.695	0.39831	D	0.972977	D;P	0.55800	0.973;0.862	P;P	0.57152	0.814;0.549	T	0.62779	-0.6782	10	0.62326	D	0.03	-0.8	18.1934	0.89813	0.0:0.0:1.0:0.0	.	123;168	B7Z2B2;Q8NHS3	.;MFSD8_HUMAN	C	168;123;123	ENSP00000296468:S168C;ENSP00000425000:S123C;ENSP00000439616:S123C	ENSP00000296468:S168C	S	-	2	0	MFSD8	129082700	1.000000	0.71417	0.877000	0.34402	0.037000	0.13140	8.450000	0.90340	2.518000	0.84900	0.563000	0.77884	TCC		0.353	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778		35	189	0	0	0	0	35	189				
TTC29	83894	broad.mit.edu	37	4	147741384	147741384	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:147741384C>G	ENST00000325106.4	-	10	1220	c.994G>C	c.(994-996)Gaa>Caa	p.E332Q	TTC29_ENST00000398886.4_Missense_Mutation_p.E358Q|TTC29_ENST00000513335.1_Missense_Mutation_p.E358Q	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	332										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TTAATTGCTTCTGTCATCTCT	0.353																																						uc003ikw.3		NA																	0					0						c.(994-996)GAA>CAA		tetratricopeptide repeat domain 29							65.0	62.0	63.0					4																	147741384		1833	4077	5910	SO:0001583	missense	83894						binding	g.chr4:147741384C>G	AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.994G>C	4.37:g.147741384C>G	ENSP00000316740:p.Glu332Gln					TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Missense_Mutation_p.E358Q|TTC29_uc010ipd.1_Missense_Mutation_p.E332Q	p.E332Q	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN			10	1221	-	all_hematologic(180;0.151)		332			TPR 4.		A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	c.994G>C	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254566	0.59212	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000504425	D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65	5.91	5.91	0.95273	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.049527	0.85682	D	0.000000	D	0.96864	0.8976	M	0.78637	2.42	0.35794	D	0.822606	D;D;D	0.89917	1.0;0.983;1.0	D;P;D	0.74674	0.984;0.826;0.984	D	0.99414	1.0931	10	0.54805	T	0.06	-18.6885	14.4388	0.67301	0.0:0.93:0.0:0.07	.	332;358;332	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	Q	358;358;332;332	ENSP00000423505:E358Q;ENSP00000381861:E358Q;ENSP00000316740:E332Q;ENSP00000425778:E332Q	ENSP00000316740:E332Q	E	-	1	0	TTC29	147960834	0.995000	0.38212	0.962000	0.40283	0.591000	0.36615	3.547000	0.53663	2.803000	0.96430	0.650000	0.86243	GAA		0.353	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956		8	55	0	0	0	0	8	55				
ARHGAP10	79658	broad.mit.edu	37	4	148944413	148944413	+	Splice_Site	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:148944413G>C	ENST00000336498.3	+	19	1955		c.e19-1		ARHGAP10_ENST00000414545.2_Splice_Site	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10						establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTTGTTGGAAGATTTTTCGGA	0.483																																						uc003ilf.2		NA																	0				skin(2)|pancreas(1)|lung(1)	4						c.e19-1		Rho GTPase activating protein 10							71.0	69.0	70.0					4																	148944413		2203	4300	6503	SO:0001630	splice_region_variant	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148944413G>C	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.1717-1G>C	4.37:g.148944413G>C						ARHGAP10_uc003ilg.2_Splice_Site_p.I222_splice|ARHGAP10_uc003ilh.2_Splice_Site_p.I154_splice|ARHGAP10_uc003ili.2_Missense_Mutation_p.K5N	p.I573_splice	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	19	1717	+	all_hematologic(180;0.151)	Renal(17;0.0166)						Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Splice_Site	SNP	ENST00000336498.3	37	c.1717_splice	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458416	0.63401	.	.	ENSG00000071205	ENST00000336498;ENST00000507661;ENST00000414545	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0479	0.89338	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP10	149163863	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	6.394000	0.73223	2.690000	0.91761	0.655000	0.94253	.		0.483	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605	Intron	3	102	0	0	0	0	3	102				
LRBA	987	broad.mit.edu	37	4	151186875	151186875	+	Nonstop_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:151186875C>A	ENST00000357115.3	-	58	8834	c.8591G>T	c.(8590-8592)tGa>tTa	p.*2864L	LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Nonstop_Mutation_p.*2852L|LRBA_ENST00000535741.1_Nonstop_Mutation_p.*2853L	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	0						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTGTCACCATCAGTAGCGGGT	0.448																																						uc010ipj.2		NA																	0				ovary(3)|breast(3)|skin(1)	7						c.(8590-8592)TGA>TTA		LPS-responsive vesicle trafficking, beach and							123.0	115.0	117.0					4																	151186875		2203	4300	6503	SO:0001578	stop_lost	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151186875C>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.8591G>T	4.37:g.151186875C>A						LRBA_uc010ipi.2_Nonstop_Mutation_p.*386L|LRBA_uc003ils.3_Nonstop_Mutation_p.*759L|LRBA_uc003ilt.3_Nonstop_Mutation_p.*1512L|LRBA_uc003ilu.3_Nonstop_Mutation_p.*2852L|LRBA_uc003ilr.3_Nonstop_Mutation_p.*284L	p.*2864L	NM_006726	NP_006717	P50851	LRBA_HUMAN			58	9065	-	all_hematologic(180;0.151)		2864					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Nonstop_Mutation	SNP	ENST00000357115.3	37	c.8591G>T	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842883	0.91197	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.22366	N	0.999169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	.	.	.	L	2853;2852;2864	.	.	X	-	2	2	LRBA	151406325	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	4.503000	0.60407	2.782000	0.95742	0.655000	0.94253	TGA		0.448	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			13	25	1	0	4.38e-07	4.55e-07	13	25				
LRBA	987	broad.mit.edu	37	4	151509251	151509251	+	Silent	SNP	G	G	C	rs4613549	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:151509251G>C	ENST00000357115.3	-	41	6555	c.6312C>G	c.(6310-6312)ctC>ctG	p.L2104L	LRBA_ENST00000510413.1_Silent_p.L2093L|LRBA_ENST00000507224.1_Silent_p.L2093L|LRBA_ENST00000535741.1_Silent_p.L2093L	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2104						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CCTCAAAATAGAGTTCGGAGG	0.473																																						uc010ipj.2		NA																	0				ovary(3)|breast(3)|skin(1)	7						c.(6310-6312)CTC>CTG		LPS-responsive vesicle trafficking, beach and							105.0	116.0	112.0					4																	151509251		2203	4298	6501	SO:0001819	synonymous_variant	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151509251G>C	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6312C>G	4.37:g.151509251G>C						LRBA_uc003ilt.3_Silent_p.L752L|LRBA_uc003ilu.3_Silent_p.L2093L	p.L2104L	NM_006726	NP_006717	P50851	LRBA_HUMAN			41	6786	-	all_hematologic(180;0.151)		2104					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	ENST00000357115.3	37	c.6312C>G	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	3.590	-0.083803	0.07141	.	.	ENSG00000198589	ENST00000509835	.	.	.	6.03	5.19	0.71726	.	.	.	.	.	T	0.72938	0.3523	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72707	-0.4212	4	.	.	.	.	16.5461	0.84446	0.0:0.2452:0.7548:0.0	.	.	.	.	C	746	.	.	S	-	2	0	LRBA	151728701	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.300000	0.33436	1.527000	0.49086	0.655000	0.94253	TCT		0.473	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			5	289	0	0	0	0	5	289				
RXFP1	59350	broad.mit.edu	37	4	159568311	159568311	+	Missense_Mutation	SNP	G	G	A	rs368105232		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:159568311G>A	ENST00000307765.5	+	16	1965	c.1714G>A	c.(1714-1716)Gaa>Aaa	p.E572K	RXFP1_ENST00000470033.1_Missense_Mutation_p.E539K|RXFP1_ENST00000448688.2_Missense_Mutation_p.E467K|RXFP1_ENST00000460056.2_Missense_Mutation_p.E491K|RXFP1_ENST00000343542.5_Missense_Mutation_p.E524K	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	572					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AGAAGATACAGAAAGTATTGG	0.333																																						uc003ipz.2		NA																	0					0						c.(1714-1716)GAA>AAA		relaxin/insulin-like family peptide receptor 1		G	LYS/GLU	0,3620		0,0,1810	57.0	54.0	55.0		1714	5.7	0.5	4		55	1,8159		0,1,4079	no	missense	RXFP1	NM_021634.2	56	0,1,5889	AA,AG,GG		0.0123,0.0,0.0085	possibly-damaging	572/758	159568311	1,11779	1810	4080	5890	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159568311G>A	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.1714G>A	4.37:g.159568311G>A	ENSP00000303248:p.Glu572Lys					RXFP1_uc011cja.1_Missense_Mutation_p.E467K|RXFP1_uc010iqo.2_Missense_Mutation_p.E524K|RXFP1_uc011cjb.1_Missense_Mutation_p.E470K|RXFP1_uc010iqk.2_Missense_Mutation_p.E440K|RXFP1_uc011cjc.1_Missense_Mutation_p.E491K|RXFP1_uc011cjd.1_Missense_Mutation_p.E491K|RXFP1_uc010iql.2_Missense_Mutation_p.E416K|RXFP1_uc011cje.1_Missense_Mutation_p.E599K|RXFP1_uc010iqm.2_Missense_Mutation_p.E539K|RXFP1_uc011cjf.1_Missense_Mutation_p.E441K|RXFP1_uc010iqn.2_Missense_Mutation_p.E517K	p.E572K	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	16	1796	+	all_hematologic(180;0.24)	Renal(120;0.0854)	572			Extracellular (Potential).		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.1714G>A	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858628	0.71834	0.0	1.23E-4	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	5.74	5.74	0.90152	GPCR, rhodopsin-like superfamily (1);	0.046575	0.85682	D	0.000000	T	0.50990	0.1648	L	0.45137	1.4	0.53005	D	0.999964	B;P;B;B;P;B;B;P	0.50528	0.433;0.936;0.433;0.057;0.566;0.003;0.433;0.62	P;P;B;B;P;B;P;P	0.60068	0.533;0.868;0.405;0.138;0.583;0.016;0.561;0.707	T	0.21965	-1.0230	10	0.30078	T	0.28	.	19.9326	0.97124	0.0:0.0:1.0:0.0	.	583;599;467;524;539;491;442;572	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	K	491;572;467;524;539;442	ENSP00000423306:E491K;ENSP00000303248:E572K;ENSP00000414885:E467K;ENSP00000345889:E524K;ENSP00000420712:E539K	ENSP00000303248:E572K	E	+	1	0	RXFP1	159787761	1.000000	0.71417	0.519000	0.27824	0.681000	0.39784	9.777000	0.99008	2.720000	0.93068	0.650000	0.86243	GAA		0.333	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		30	89	0	0	0	0	30	89				
HAND2	9464	broad.mit.edu	37	4	174449901	174449901	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:174449901C>T	ENST00000359562.4	-	1	1479	c.540G>A	c.(538-540)aaG>aaA	p.K180K	HAND2-AS1_ENST00000509866.1_RNA|HAND2-AS1_ENST00000502334.1_RNA|HAND2-AS1_ENST00000510339.1_RNA|HAND2-AS1_ENST00000512929.1_RNA|HAND2-AS1_ENST00000503474.1_RNA|HAND2-AS1_ENST00000507322.1_RNA|HAND2-AS1_ENST00000515741.1_RNA|HAND2-AS1_ENST00000515345.1_RNA|HAND2-AS1_ENST00000515376.1_RNA|HAND2-AS1_ENST00000505032.1_RNA|HAND2-AS1_ENST00000509640.1_RNA|HAND2-AS1_ENST00000503309.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000504429.1_RNA|HAND2-AS1_ENST00000503198.1_RNA|HAND2-AS1_ENST00000502896.1_RNA|HAND2-AS1_ENST00000512943.1_RNA|HAND2-AS1_ENST00000515350.1_RNA|HAND2-AS1_ENST00000508534.1_RNA|HAND2-AS1_ENST00000507636.1_RNA|HAND2-AS1_ENST00000507571.1_RNA|HAND2-AS1_ENST00000504740.1_RNA|HAND2-AS1_ENST00000510221.1_RNA|HAND2-AS1_ENST00000505817.1_RNA|HAND2-AS1_ENST00000502941.1_RNA|HAND2-AS1_ENST00000512209.2_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000511196.1_RNA|HAND2-AS1_ENST00000514431.1_RNA|HAND2-AS1_ENST00000512246.1_RNA|HAND2-AS1_ENST00000510268.1_RNA|HAND2-AS1_ENST00000511728.1_RNA|HAND2-AS1_ENST00000514673.1_RNA|HAND2-AS1_ENST00000508887.1_RNA|HAND2-AS1_ENST00000505621.1_RNA|HAND2-AS1_ENST00000507062.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	180					adult heart development (GO:0007512)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic process involved in heart morphogenesis (GO:0003278)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cardiac right ventricle formation (GO:0003219)|cartilage morphogenesis (GO:0060536)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|coronary artery morphogenesis (GO:0060982)|embryonic digit morphogenesis (GO:0042733)|heart development (GO:0007507)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mesenchymal cell proliferation (GO:0010463)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural crest cell development (GO:0014032)|noradrenergic neuron differentiation (GO:0003357)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peripheral nervous system neuron development (GO:0048935)|positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis (GO:2000764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process (GO:2000763)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|sympathetic nervous system development (GO:0048485)|thymus development (GO:0048538)|tongue development (GO:0043586)|visceral serous pericardium development (GO:0061032)	nuclear chromatin (GO:0000790)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|E-box binding (GO:0070888)|protein homodimerization activity (GO:0042803)|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 regulatory region sequence-specific DNA binding (GO:0000977)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		CCTTCTTCCTCTTCTCCTCTT	0.602																																						uc003ith.1		NA																	0				skin(1)	1						c.(538-540)AAG>AAA		basic helix-loop-helix transcription factor							91.0	75.0	81.0					4																	174449901		2203	4300	6503	SO:0001819	synonymous_variant	9464				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity	g.chr4:174449901C>T	AF087941	CCDS3819.1	4q34.1	2014-08-12			ENSG00000164107	ENSG00000164107		"""Basic helix-loop-helix proteins"""	4808	protein-coding gene	gene with protein product		602407				9878849	Standard	NM_021973		Approved	dHand, Thing2, Hed, bHLHa26	uc003ith.1	P61296	OTTHUMG00000160775	ENST00000359562.4:c.540G>A	4.37:g.174449901C>T						NBLA00301_uc011ckd.1_5'Flank|NBLA00301_uc003itl.3_5'Flank|NBLA00301_uc003itj.2_5'Flank|NBLA00301_uc010irf.2_5'Flank|NBLA00301_uc010irg.2_5'Flank|NBLA00301_uc010irh.2_5'Flank|NBLA00301_uc010iri.2_5'Flank|NBLA00301_uc010irj.2_5'Flank|NBLA00301_uc010irk.2_5'Flank|NBLA00301_uc010irl.2_5'Flank|NBLA00301_uc010irm.2_5'Flank|NBLA00301_uc010irn.2_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003itg.1_Missense_Mutation_p.E146K|HAND2_uc010ire.1_Silent_p.K180K	p.K180K	NM_021973	NP_068808	P61296	HAND2_HUMAN		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	1	1478	-		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)	180					B6ECG9|O95300|O95301|P97833|Q494T1	Silent	SNP	ENST00000359562.4	37	c.540G>A	CCDS3819.1																																																																																				0.602	HAND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362241.3			6	28	0	0	0	0	6	28				
HAND2	9464	broad.mit.edu	37	4	174449906	174449906	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:174449906C>A	ENST00000359562.4	-	1	1474	c.535G>T	c.(535-537)Gag>Tag	p.E179*	HAND2-AS1_ENST00000509866.1_RNA|HAND2-AS1_ENST00000502334.1_RNA|HAND2-AS1_ENST00000510339.1_RNA|HAND2-AS1_ENST00000512929.1_RNA|HAND2-AS1_ENST00000503474.1_RNA|HAND2-AS1_ENST00000507322.1_RNA|HAND2-AS1_ENST00000515741.1_RNA|HAND2-AS1_ENST00000515345.1_RNA|HAND2-AS1_ENST00000515376.1_RNA|HAND2-AS1_ENST00000505032.1_RNA|HAND2-AS1_ENST00000509640.1_RNA|HAND2-AS1_ENST00000503309.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000504429.1_RNA|HAND2-AS1_ENST00000503198.1_RNA|HAND2-AS1_ENST00000502896.1_RNA|HAND2-AS1_ENST00000512943.1_RNA|HAND2-AS1_ENST00000515350.1_RNA|HAND2-AS1_ENST00000508534.1_RNA|HAND2-AS1_ENST00000507636.1_RNA|HAND2-AS1_ENST00000507571.1_RNA|HAND2-AS1_ENST00000504740.1_RNA|HAND2-AS1_ENST00000510221.1_RNA|HAND2-AS1_ENST00000505817.1_RNA|HAND2-AS1_ENST00000502941.1_RNA|HAND2-AS1_ENST00000512209.2_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000511196.1_RNA|HAND2-AS1_ENST00000514431.1_RNA|HAND2-AS1_ENST00000512246.1_RNA|HAND2-AS1_ENST00000510268.1_RNA|HAND2-AS1_ENST00000511728.1_RNA|HAND2-AS1_ENST00000514673.1_RNA|HAND2-AS1_ENST00000508887.1_RNA|HAND2-AS1_ENST00000505621.1_RNA|HAND2-AS1_ENST00000507062.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	179					adult heart development (GO:0007512)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic process involved in heart morphogenesis (GO:0003278)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cardiac right ventricle formation (GO:0003219)|cartilage morphogenesis (GO:0060536)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|coronary artery morphogenesis (GO:0060982)|embryonic digit morphogenesis (GO:0042733)|heart development (GO:0007507)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mesenchymal cell proliferation (GO:0010463)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural crest cell development (GO:0014032)|noradrenergic neuron differentiation (GO:0003357)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peripheral nervous system neuron development (GO:0048935)|positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis (GO:2000764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process (GO:2000763)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|sympathetic nervous system development (GO:0048485)|thymus development (GO:0048538)|tongue development (GO:0043586)|visceral serous pericardium development (GO:0061032)	nuclear chromatin (GO:0000790)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|E-box binding (GO:0070888)|protein homodimerization activity (GO:0042803)|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 regulatory region sequence-specific DNA binding (GO:0000977)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TTCCTCTTCTCCTCTTTCACG	0.612																																						uc003ith.1		NA																	0				skin(1)	1						c.(535-537)GAG>TAG		basic helix-loop-helix transcription factor							97.0	80.0	86.0					4																	174449906		2203	4300	6503	SO:0001587	stop_gained	9464				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity	g.chr4:174449906C>A	AF087941	CCDS3819.1	4q34.1	2014-08-12			ENSG00000164107	ENSG00000164107		"""Basic helix-loop-helix proteins"""	4808	protein-coding gene	gene with protein product		602407				9878849	Standard	NM_021973		Approved	dHand, Thing2, Hed, bHLHa26	uc003ith.1	P61296	OTTHUMG00000160775	ENST00000359562.4:c.535G>T	4.37:g.174449906C>A	ENSP00000352565:p.Glu179*					NBLA00301_uc011ckd.1_5'Flank|NBLA00301_uc003itl.3_5'Flank|NBLA00301_uc003itj.2_5'Flank|NBLA00301_uc010irf.2_5'Flank|NBLA00301_uc010irg.2_5'Flank|NBLA00301_uc010irh.2_5'Flank|NBLA00301_uc010iri.2_5'Flank|NBLA00301_uc010irj.2_5'Flank|NBLA00301_uc010irk.2_5'Flank|NBLA00301_uc010irl.2_5'Flank|NBLA00301_uc010irm.2_5'Flank|NBLA00301_uc010irn.2_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003itg.1_Missense_Mutation_p.G144V|HAND2_uc010ire.1_Nonsense_Mutation_p.E179*	p.E179*	NM_021973	NP_068808	P61296	HAND2_HUMAN		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	1	1473	-		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)	179					B6ECG9|O95300|O95301|P97833|Q494T1	Nonsense_Mutation	SNP	ENST00000359562.4	37	c.535G>T	CCDS3819.1	.	.	.	.	.	.	.	.	.	.	C	45	11.714150	0.99594	.	.	ENSG00000164107	ENST00000359562;ENST00000393686;ENST00000535864	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-25.4431	18.4905	0.90844	0.0:1.0:0.0:0.0	.	.	.	.	X	179;148;127	.	ENSP00000352565:E179X	E	-	1	0	HAND2	174686481	0.991000	0.36638	1.000000	0.80357	0.995000	0.86356	2.457000	0.45005	2.587000	0.87381	0.561000	0.74099	GAG		0.612	HAND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362241.3			6	27	1	0	0.00116845	0.0011888	6	27				
SDHA	6389	broad.mit.edu	37	5	228396	228396	+	Missense_Mutation	SNP	G	G	C	rs1041946		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:228396G>C	ENST00000264932.6	+	6	833	c.718G>C	c.(718-720)Gag>Cag	p.E240Q	SDHA_ENST00000510361.1_Missense_Mutation_p.E192Q|SDHA_ENST00000504309.1_Missense_Mutation_p.E240Q	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	240			E -> Q (in dbSNP:rs1041946).		cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)	p.E240Q(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ACTGTGCATAGAGGACGGGTC	0.418									Familial Paragangliomas																													uc003jao.3		NA																	2	Substitution - Missense(2)		lung(1)|prostate(1)		0						c.(718-720)GAG>CAG		succinate dehydrogenase complex, subunit A,	Succinic acid(DB00139)						100.0	92.0	95.0					5																	228396		2203	4300	6503	SO:0001583	missense	6389	Familial_Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:228396G>C	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.718G>C	5.37:g.228396G>C	ENSP00000264932:p.Glu240Gln					SDHA_uc003jan.2_Missense_Mutation_p.E240Q|SDHA_uc011clv.1_Missense_Mutation_p.E240Q|SDHA_uc011clw.1_Missense_Mutation_p.E192Q|SDHA_uc003jap.3_Missense_Mutation_p.E240Q|SDHA_uc003jaq.3_Missense_Mutation_p.E15Q|SDHA_uc003jar.3_5'Flank	p.E240Q	NM_004168	NP_004159	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		6	833	+			240					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.718G>C	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	c	18.02	3.531241	0.64972	.	.	ENSG00000073578	ENST00000264932;ENST00000504309;ENST00000510361	T;T;T	0.70399	-0.48;-0.48;-0.48	5.23	5.23	0.72850	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.063690	0.64402	U	0.000008	T	0.81973	0.4936	M	0.67397	2.05	0.80722	D	1	P;P;D;P;P	0.69078	0.494;0.614;0.997;0.605;0.605	P;P;D;B;B	0.65874	0.457;0.493;0.939;0.2;0.315	D	0.83437	0.0041	10	0.66056	D	0.02	.	16.7213	0.85410	0.0:0.0:1.0:0.0	rs1041946;rs3181411;rs17410941	192;240;240;240;246	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	Q	240;240;192	ENSP00000264932:E240Q;ENSP00000426514:E240Q;ENSP00000427703:E192Q	ENSP00000264932:E240Q	E	+	1	0	SDHA	281396	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	7.579000	0.82511	2.633000	0.89246	0.644000	0.83932	GAG		0.418	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		4	134	0	0	0	0	4	134				
SLC6A18	348932	broad.mit.edu	37	5	1239639	1239639	+	Silent	SNP	C	C	T	rs137936927	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:1239639C>T	ENST00000324642.3	+	6	930	c.807C>T	c.(805-807)ttC>ttT	p.F269F	SLC6A18_ENST00000296821.4_Silent_p.F264F	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	269					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCCTGGCCTTCGGAGGACACA	0.592																																						uc003jby.1		NA																	0				ovary(1)	1						c.(805-807)TTC>TTT		solute carrier family 6, member 18		C		5,4401	9.9+/-24.2	0,5,2198	111.0	109.0	109.0		807	-8.6	0.4	5	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous	SLC6A18	NM_182632.2		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		269/629	1239639	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1239639C>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.807C>T	5.37:g.1239639C>T							p.F269F	NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		6	930	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		269			Helical; Name=6; (Potential).			Silent	SNP	ENST00000324642.3	37	c.807C>T	CCDS3860.1																																																																																				0.592	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		6	259	0	0	0	0	6	259				
ICE1	23379	broad.mit.edu	37	5	5461061	5461061	+	Silent	SNP	G	G	A	rs377632521		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:5461061G>A	ENST00000296564.7	+	13	1836	c.1614G>A	c.(1612-1614)agG>agA	p.R538R		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		538					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTGGCAAAAGGCCATTAAATG	0.448																																						uc003jdm.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1612-1614)AGG>AGA		hypothetical protein LOC23379		G		0,3828		0,0,1914	157.0	159.0	159.0		1614	0.4	0.0	5		159	1,8231		0,1,4115	no	coding-synonymous	KIAA0947	NM_015325.1		0,1,6029	AA,AG,GG		0.0121,0.0,0.0083		538/2267	5461061	1,12059	1914	4116	6030	SO:0001819	synonymous_variant	23379							g.chr5:5461061G>A																												ENST00000296564.7:c.1614G>A	5.37:g.5461061G>A							p.R538R	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	1836	+			538					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.1614G>A	CCDS47187.1																																																																																				0.448	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			74	267	0	0	0	0	74	267				
NSUN2	54888	broad.mit.edu	37	5	6632078	6632078	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:6632078C>G	ENST00000264670.6	-	3	578	c.267G>C	c.(265-267)gaG>gaC	p.E89D	SRD5A1_ENST00000538824.1_5'Flank|SRD5A1_ENST00000537411.1_5'Flank|SRD5A1_ENST00000274192.5_5'Flank|NSUN2_ENST00000506139.1_Intron|NSUN2_ENST00000539938.1_5'UTR	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	89					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						AATGGAGAATCTCTTTTGCGT	0.353																																						uc003jdu.2		NA																	0				ovary(1)	1						c.(265-267)GAG>GAC		NOL1/NOP2/Sun domain family, member 2							116.0	116.0	116.0					5																	6632078		2203	4300	6503	SO:0001583	missense	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6632078C>G	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.267G>C	5.37:g.6632078C>G	ENSP00000264670:p.Glu89Asp					NSUN2_uc011cmk.1_Intron|NSUN2_uc003jdv.2_5'UTR|SRD5A1_uc003jdw.2_5'Flank|SRD5A1_uc011cml.1_5'Flank|SRD5A1_uc011cmm.1_5'Flank	p.E89D	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN			3	332	-			89					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	c.267G>C	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181178	0.38511	.	.	ENSG00000037474	ENST00000264670	T	0.37235	1.21	4.98	2.2	0.27929	.	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	L	0.53671	1.685	0.80722	D	1	P	0.37330	0.59	B	0.43155	0.41	T	0.04664	-1.0935	10	0.16420	T	0.52	-43.6185	8.5188	0.33262	0.0:0.6197:0.0:0.3803	.	89	Q08J23	NSUN2_HUMAN	D	89	ENSP00000264670:E89D	ENSP00000264670:E89D	E	-	3	2	NSUN2	6685078	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.439000	0.21575	0.503000	0.28060	0.655000	0.94253	GAG		0.353	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		58	244	0	0	0	0	58	244				
SEMA5A	9037	broad.mit.edu	37	5	9044561	9044561	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:9044561G>T	ENST00000382496.5	-	22	3694	c.3029C>A	c.(3028-3030)tCa>tAa	p.S1010*	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	1010					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GGGGGCAGGTGAGACGGGGTG	0.527																																						uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3028-3030)TCA>TAA		semaphorin 5A precursor							166.0	138.0	147.0					5																	9044561		2203	4300	6503	SO:0001587	stop_gained	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9044561G>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.3029C>A	5.37:g.9044561G>T	ENSP00000371936:p.Ser1010*						p.S1010*	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			22	3741	-			1010			Cytoplasmic (Potential).		D3DTC6|O60408|Q1RLL9	Nonsense_Mutation	SNP	ENST00000382496.5	37	c.3029C>A	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	44	10.603654	0.99436	.	.	ENSG00000112902	ENST00000382496	.	.	.	5.05	5.05	0.67936	.	0.131422	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	15.8955	0.79329	0.0:0.0:1.0:0.0	.	.	.	.	X	1010	.	ENSP00000371936:S1010X	S	-	2	0	SEMA5A	9097561	1.000000	0.71417	0.014000	0.15608	0.096000	0.18686	9.384000	0.97219	2.342000	0.79632	0.563000	0.77884	TCA		0.527	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			68	228	1	0	4.61e-44	4.99e-44	68	228				
PDZD2	23037	broad.mit.edu	37	5	32037440	32037440	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:32037440G>A	ENST00000438447.1	+	7	1899	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H	PDZD2_ENST00000282493.3_Missense_Mutation_p.R504H			O15018	PDZD2_HUMAN	PDZ domain containing 2	504					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTCAAGAGTCGCCTTTCAGGT	0.547																																						uc003jhl.2		NA																	0				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(1510-1512)CGC>CAC		PDZ domain containing 2							55.0	53.0	54.0					5																	32037440		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32037440G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.1511G>A	5.37:g.32037440G>A	ENSP00000402033:p.Arg504His					PDZD2_uc003jhm.2_Missense_Mutation_p.R504H|PDZD2_uc011cnx.1_Missense_Mutation_p.R330H	p.R504H	NM_178140	NP_835260	O15018	PDZD2_HUMAN			7	1899	+			504					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.1511G>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023331	0.75390	.	.	ENSG00000133401	ENST00000438447;ENST00000282493	T;T	0.09630	2.96;2.96	5.37	5.37	0.77165	.	0.000000	0.51477	D	0.000093	T	0.22551	0.0544	L	0.29908	0.895	0.48341	D	0.999636	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	T	0.00533	-1.1685	10	0.72032	D	0.01	.	14.9995	0.71462	0.0:0.0:1.0:0.0	.	330;504	B4E3P2;O15018	.;PDZD2_HUMAN	H	504	ENSP00000402033:R504H;ENSP00000282493:R504H	ENSP00000282493:R504H	R	+	2	0	PDZD2	32073197	0.996000	0.38824	0.975000	0.42487	0.604000	0.37047	4.342000	0.59341	2.683000	0.91414	0.655000	0.94253	CGC		0.547	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			9	39	0	0	0	0	9	39				
NPR3	4883	broad.mit.edu	37	5	32789775	32789775	+	3'UTR	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:32789775C>T	ENST00000265074.8	+	0	5293				AC026703.1_ENST00000326958.1_Missense_Mutation_p.L90F	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CATGTGCCTTCTTTGCCCCAA	0.403																																						uc003jhw.1		NA																	0					0						c.(268-270)CTT>TTT		hypothetical protein LOC79614							153.0	125.0	135.0					5																	32789775		2203	4300	6503	SO:0001624	3_prime_UTR_variant	79614							g.chr5:32789775C>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3324C>T	5.37:g.32789775C>T							p.L90F	NM_024563	NP_078839					1	831	+								A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.268C>T	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269367	0.59540	.	.	ENSG00000181495	ENST00000326958	.	.	.	4.92	3.1	0.35709	.	.	.	.	.	T	0.42562	0.1208	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.36089	-0.9762	5	0.87932	D	0	.	6.9227	0.24397	0.0:0.7854:0.0:0.2146	.	.	.	.	F	90	.	ENSP00000318340:L90F	L	+	1	0	AC026703.1	32825532	0.017000	0.18338	0.015000	0.15790	0.870000	0.49936	0.332000	0.19751	0.749000	0.32854	0.591000	0.81541	CTT		0.403	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		51	195	0	0	0	0	51	195				
AGXT2	64902	broad.mit.edu	37	5	35010167	35010167	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:35010167C>A	ENST00000231420.6	-	12	1476	c.1276G>T	c.(1276-1278)Gaa>Taa	p.E426*		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	426					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	CCAACAATTTCAAATTCATCC	0.428																																						uc003jjf.2		NA																	0				ovary(3)|skin(1)	4						c.(1276-1278)GAA>TAA		alanine-glyoxylate aminotransferase 2 precursor	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						140.0	127.0	132.0					5																	35010167		2203	4300	6503	SO:0001587	stop_gained	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35010167C>A	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.1276G>T	5.37:g.35010167C>A	ENSP00000231420:p.Glu426*					AGXT2_uc003jje.1_Nonsense_Mutation_p.E79*|AGXT2_uc011com.1_Nonsense_Mutation_p.E351*	p.E426*	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	12	1355	-	all_lung(31;4.52e-05)		426					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Nonsense_Mutation	SNP	ENST00000231420.6	37	c.1276G>T	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	C	37	6.580043	0.97680	.	.	ENSG00000113492	ENST00000231420	.	.	.	5.67	5.67	0.87782	.	0.045958	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	3.8761	19.3681	0.94473	0.0:1.0:0.0:0.0	.	.	.	.	X	426	.	ENSP00000231420:E426X	E	-	1	0	AGXT2	35045924	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.102000	0.77005	2.677000	0.91161	0.655000	0.94253	GAA		0.428	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		43	184	1	0	8.21e-20	8.76e-20	43	184				
CAPSL	133690	broad.mit.edu	37	5	35910094	35910094	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:35910094G>A	ENST00000397367.2	-	4	525	c.399C>T	c.(397-399)atC>atT	p.I133I	CAPSL_ENST00000514524.1_Silent_p.I133I|CAPSL_ENST00000397366.1_Silent_p.I133I	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	133	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			GAAGGTCTTCGATTGTTATAA	0.383																																						uc003jjt.1		NA																	0				skin(1)	1						c.(397-399)ATC>ATT		calcyphosine-like							179.0	174.0	176.0					5																	35910094		2203	4300	6503	SO:0001819	synonymous_variant	133690					cytoplasm	calcium ion binding	g.chr5:35910094G>A	BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"""EF-hand domain containing"""	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.399C>T	5.37:g.35910094G>A						CAPSL_uc003jju.1_Silent_p.I133I	p.I133I	NM_001042625	NP_001036090	Q8WWF8	CAPSL_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)		4	494	-	all_lung(31;0.000268)		133			EF-hand 3.			Silent	SNP	ENST00000397367.2	37	c.399C>T	CCDS3912.2																																																																																				0.383	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2	NM_144647		62	211	0	0	0	0	62	211				
NUP155	9631	broad.mit.edu	37	5	37302930	37302930	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:37302930G>C	ENST00000231498.3	-	29	3601	c.3398C>G	c.(3397-3399)tCa>tGa	p.S1133*	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000513532.1_Nonsense_Mutation_p.S1069*|NUP155_ENST00000381843.2_Nonsense_Mutation_p.S1074*	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1133					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCAGCTATTGATGAAATGGC	0.408																																						uc003jku.1		NA																	0				ovary(1)	1						c.(3397-3399)TCA>TGA		nucleoporin 155kDa isoform 1							131.0	134.0	133.0					5																	37302930		2203	4300	6503	SO:0001587	stop_gained	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37302930G>C	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.3398C>G	5.37:g.37302930G>C	ENSP00000231498:p.Ser1133*					NUP155_uc003jkt.1_Nonsense_Mutation_p.S1074*|NUP155_uc010iuz.1_Nonsense_Mutation_p.S1069*	p.S1133*	NM_153485	NP_705618	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		29	3516	-	all_lung(31;0.000137)		1133					Q9UBE9|Q9UFL5	Nonsense_Mutation	SNP	ENST00000231498.3	37	c.3398C>G	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	G	42	9.791312	0.99264	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	.	.	.	5.44	5.44	0.79542	.	0.118466	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	19.2542	0.93940	0.0:0.0:1.0:0.0	.	.	.	.	X	1133;1074;1095;1069	.	ENSP00000231498:S1133X	S	-	2	0	NUP155	37338687	1.000000	0.71417	0.966000	0.40874	0.998000	0.95712	7.618000	0.83043	2.550000	0.86006	0.591000	0.81541	TCA		0.408	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		51	212	0	0	0	0	51	212				
C9	735	broad.mit.edu	37	5	39364534	39364534	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:39364534G>C	ENST00000263408.4	-	1	128	c.33C>G	c.(31-33)atC>atG	p.I11M	C9_ENST00000509186.1_Intron	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	11					complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CTAAAATGCAGATTGCAACTG	0.502																																						uc003jlv.3		NA																	0					0						c.(31-33)ATC>ATG		complement component 9 precursor							103.0	90.0	94.0					5																	39364534		2203	4300	6503	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39364534G>C		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.33C>G	5.37:g.39364534G>C	ENSP00000263408:p.Ile11Met						p.I11M	NM_001737	NP_001728	P02748	CO9_HUMAN	Epithelial(62;0.158)		1	122	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	11						Missense_Mutation	SNP	ENST00000263408.4	37	c.33C>G	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287385	0.40494	.	.	ENSG00000113600	ENST00000263408	T	0.34072	1.38	4.45	-0.704	0.11256	.	1.353090	0.04631	N	0.403677	T	0.20780	0.0500	N	0.08118	0	0.09310	N	1	P	0.44877	0.845	B	0.44278	0.445	T	0.08249	-1.0731	10	0.66056	D	0.02	-9.5408	1.394	0.02257	0.1564:0.1219:0.2152:0.5065	.	11	P02748	CO9_HUMAN	M	11	ENSP00000263408:I11M	ENSP00000263408:I11M	I	-	3	3	C9	39400291	0.087000	0.21565	0.070000	0.20053	0.162000	0.22319	-0.097000	0.11042	-0.111000	0.12001	0.561000	0.74099	ATC		0.502	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			26	116	0	0	0	0	26	116				
NNT	23530	broad.mit.edu	37	5	43659377	43659377	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:43659377C>T	ENST00000264663.5	+	17	2780	c.2559C>T	c.(2557-2559)ctC>ctT	p.L853L	NNT_ENST00000344920.4_Silent_p.L853L|NNT_ENST00000512996.2_Silent_p.L722L	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	853					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					GCTTCCTGCTCAACAACAATC	0.512																																						uc003joe.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2557-2559)CTC>CTT		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						151.0	133.0	139.0					5																	43659377		2203	4300	6503	SO:0001819	synonymous_variant	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43659377C>T	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2559C>T	5.37:g.43659377C>T						NNT_uc003jof.2_Silent_p.L853L	p.L853L	NM_012343	NP_036475	Q13423	NNTM_HUMAN			17	2814	+	Lung NSC(6;2.58e-06)		853			Helical; (Potential).		Q16796|Q2TB60|Q8N3V4	Silent	SNP	ENST00000264663.5	37	c.2559C>T	CCDS3949.1																																																																																				0.512	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		34	113	0	0	0	0	34	113				
HCN1	348980	broad.mit.edu	37	5	45262789	45262789	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:45262789A>T	ENST00000303230.4	-	8	1964	c.1907T>A	c.(1906-1908)aTc>aAc	p.I636N		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	636					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GATGGGAGCGATTGCCTGCAC	0.478																																						uc003jok.2		NA																	0				ovary(1)	1						c.(1906-1908)ATC>AAC		hyperpolarization activated cyclic							176.0	156.0	163.0					5																	45262789		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262789A>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1907T>A	5.37:g.45262789A>T	ENSP00000307342:p.Ile636Asn						p.I636N	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	1932	-			636			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.1907T>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	A	9.258	1.042516	0.19748	.	.	ENSG00000164588	ENST00000303230	T	0.76316	-1.01	5.91	3.53	0.40419	.	0.308962	0.27991	N	0.017031	T	0.62792	0.2457	L	0.29908	0.895	0.29783	N	0.83384	B	0.27625	0.183	B	0.24269	0.052	T	0.58205	-0.7677	10	0.37606	T	0.19	.	7.6201	0.28181	0.8059:0.0:0.0675:0.1266	.	636	O60741	HCN1_HUMAN	N	636	ENSP00000307342:I636N	ENSP00000307342:I636N	I	-	2	0	HCN1	45298546	0.834000	0.29399	0.650000	0.29550	0.391000	0.30476	1.784000	0.38674	1.033000	0.39918	-0.336000	0.08194	ATC		0.478	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		41	139	0	0	0	0	41	139				
HCN1	348980	broad.mit.edu	37	5	45396681	45396681	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:45396681G>C	ENST00000303230.4	-	4	1200	c.1143C>G	c.(1141-1143)gtC>gtG	p.V381V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	381					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGGTGGCCCCGACGATCATGC	0.507																																						uc003jok.2		NA																	0				ovary(1)	1						c.(1141-1143)GTC>GTG		hyperpolarization activated cyclic							90.0	76.0	81.0					5																	45396681		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45396681G>C	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1143C>G	5.37:g.45396681G>C							p.V381V	NM_021072	NP_066550	O60741	HCN1_HUMAN			4	1168	-			381			Helical; Name=Segment S6; (Potential).			Silent	SNP	ENST00000303230.4	37	c.1143C>G	CCDS3952.1																																																																																				0.507	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		24	60	0	0	0	0	24	60				
PARP8	79668	broad.mit.edu	37	5	50073932	50073932	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:50073932T>G	ENST00000281631.5	+	8	706	c.548T>G	c.(547-549)aTt>aGt	p.I183S	PARP8_ENST00000505554.1_Missense_Mutation_p.I162S|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Missense_Mutation_p.I183S|PARP8_ENST00000514342.2_De_novo_Start_InFrame|PARP8_ENST00000514067.2_Missense_Mutation_p.I183S|PARP8_ENST00000503750.2_Missense_Mutation_p.I183S	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	183						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GATGTAGATATTGATCTGCAT	0.279																																						uc003jon.3		NA																	0				lung(3)|large_intestine(1)|ovary(1)	5						c.(547-549)ATT>AGT		poly (ADP-ribose) polymerase family, member 8							98.0	99.0	99.0					5																	50073932		2202	4295	6497	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50073932T>G	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.548T>G	5.37:g.50073932T>G	ENSP00000281631:p.Ile183Ser					PARP8_uc011cpz.1_Missense_Mutation_p.I75S|PARP8_uc003joo.2_Missense_Mutation_p.I183S|PARP8_uc003jop.2_Missense_Mutation_p.I183S	p.I183S	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN			9	730	+		Lung NSC(810;0.0305)|Breast(144;0.222)	183					Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.548T>G	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.381128	0.82792	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000515175;ENST00000281631;ENST00000514067;ENST00000505554	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.65249	0.2673	L	0.42245	1.32	0.80722	D	1	P;D;P	0.56968	0.932;0.978;0.932	P;P;P	0.61397	0.888;0.794;0.888	T	0.63462	-0.6632	8	.	.	.	-16.2983	13.7172	0.62705	0.0:0.0:0.0:1.0	.	75;183;183	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	S	183;183;59;183;183;162	.	.	I	+	2	0	PARP8	50109689	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.089000	0.76909	2.194000	0.70268	0.528000	0.53228	ATT		0.279	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		18	51	0	0	0	0	18	51				
ITGA2	3673	broad.mit.edu	37	5	52367846	52367846	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:52367846G>A	ENST00000296585.5	+	18	2457	c.2314G>A	c.(2314-2316)Gaa>Aaa	p.E772K		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	772					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CCCTGCCCTTGAAGCCTATTC	0.468																																						uc003joy.2		NA																	0				lung(1)	1						c.(2314-2316)GAA>AAA		integrin alpha 2 precursor							140.0	119.0	126.0					5																	52367846		2203	4300	6503	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52367846G>A		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2314G>A	5.37:g.52367846G>A	ENSP00000296585:p.Glu772Lys					ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.E696K|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	p.E772K	NM_002203	NP_002194	P17301	ITA2_HUMAN			18	2457	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	772			Extracellular (Potential).		Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.2314G>A	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856052	0.91355	.	.	ENSG00000164171	ENST00000296585	T	0.48201	0.82	5.03	5.03	0.67393	Integrin alpha-2 (1);	0.110083	0.64402	D	0.000013	T	0.47710	0.1460	L	0.46157	1.445	0.42118	D	0.991414	P;D	0.55172	0.741;0.97	P;P	0.49140	0.566;0.601	T	0.44390	-0.9331	10	0.39692	T	0.17	.	11.8082	0.52167	0.0803:0.0:0.9197:0.0	.	772;772	E7ESP4;P17301	.;ITA2_HUMAN	K	772	ENSP00000296585:E772K	ENSP00000296585:E772K	E	+	1	0	ITGA2	52403603	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	6.690000	0.74567	2.335000	0.79485	0.467000	0.42956	GAA		0.468	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		18	49	0	0	0	0	18	49				
DHX29	54505	broad.mit.edu	37	5	54569133	54569133	+	Silent	SNP	T	T	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:54569133T>A	ENST00000251636.5	-	17	2911	c.2763A>T	c.(2761-2763)ccA>ccT	p.P921P	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	921	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TCCTGACTCCTGGAGGGGGAA	0.363																																						uc003jpx.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2761-2763)CCA>CCT		DEAH (Asp-Glu-Ala-His) box polypeptide 29							91.0	94.0	93.0					5																	54569133		2203	4300	6503	SO:0001819	synonymous_variant	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54569133T>A	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.2763A>T	5.37:g.54569133T>A						DHX29_uc010ivw.2_RNA	p.P921P	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN			17	2883	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	921			Helicase C-terminal.		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Silent	SNP	ENST00000251636.5	37	c.2763A>T	CCDS34158.1																																																																																				0.363	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		27	70	0	0	0	0	27	70				
IPO11	51194	broad.mit.edu	37	5	61779927	61779927	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:61779927C>G	ENST00000325324.6	+	11	1281	c.1112C>G	c.(1111-1113)tCt>tGt	p.S371C	IPO11_ENST00000409296.3_Missense_Mutation_p.S411C|KIF2A_ENST00000509663.2_Intron	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	371					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AGATTAGTCTCTCATTATTTC	0.343																																						uc003jtc.2		NA																	0				lung(2)|skin(2)	4						c.(1111-1113)TCT>TGT		Ran binding protein 11 isoform 2							72.0	76.0	75.0					5																	61779927		2203	4294	6497	SO:0001583	missense	51194					cytoplasm|nucleus	protein binding	g.chr5:61779927C>G	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.1112C>G	5.37:g.61779927C>G	ENSP00000316651:p.Ser371Cys					IPO11_uc011cqr.1_Missense_Mutation_p.S411C|IPO11_uc003jtb.1_Missense_Mutation_p.S371C	p.S371C	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	11	1302	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)	371					A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	c.1112C>G	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450370	0.84101	.	.	ENSG00000086200	ENST00000325324;ENST00000409296	T;T	0.45668	0.89;0.89	5.39	5.39	0.77823	Armadillo-like helical (1);Armadillo-type fold (1);	0.105552	0.64402	D	0.000003	T	0.45657	0.1353	L	0.38175	1.15	0.80722	D	1	P;B	0.50528	0.936;0.391	P;B	0.49387	0.609;0.235	T	0.28650	-1.0037	10	0.38643	T	0.18	.	19.1414	0.93448	0.0:1.0:0.0:0.0	.	411;371	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	C	371;411	ENSP00000316651:S371C;ENSP00000386992:S411C	ENSP00000316651:S371C	S	+	2	0	IPO11	61815684	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.842000	0.62831	2.515000	0.84797	0.563000	0.77884	TCT		0.343	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338		6	159	0	0	0	0	6	159				
TRIM23	373	broad.mit.edu	37	5	64910040	64910040	+	Nonsense_Mutation	SNP	G	G	C	rs199909564		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:64910040G>C	ENST00000231524.9	-	3	622	c.251C>G	c.(250-252)tCa>tGa	p.S84*	TRIM23_ENST00000274327.7_Nonsense_Mutation_p.S84*|TRIM23_ENST00000381018.3_Nonsense_Mutation_p.S84*	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	84					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		CCAGACACCTGAATCACCTAG	0.328																																						uc003jty.2		NA																	0				ovary(3)|lung(1)	4						c.(250-252)TCA>TGA		ADP-ribosylation factor domain protein 1 isoform							77.0	84.0	82.0					5																	64910040		2203	4300	6503	SO:0001587	stop_gained	373				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:64910040G>C	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.251C>G	5.37:g.64910040G>C	ENSP00000231524:p.Ser84*					TRIM23_uc003jtw.2_Nonsense_Mutation_p.S84*|TRIM23_uc003jtx.2_Nonsense_Mutation_p.S84*	p.S84*	NM_001656	NP_001647	P36406	TRI23_HUMAN		Lung(70;0.00473)	3	337	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	84					Q9BZY4|Q9BZY5	Nonsense_Mutation	SNP	ENST00000231524.9	37	c.251C>G	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631625	0.87660	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.4924	0.90852	0.0:0.0:1.0:0.0	.	.	.	.	X	84	.	ENSP00000231524:S84X	S	-	2	0	TRIM23	64945796	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.079000	0.94032	2.375000	0.81037	0.585000	0.79938	TCA		0.328	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		47	101	0	0	0	0	47	101				
CD180	4064	broad.mit.edu	37	5	66479408	66479408	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:66479408C>G	ENST00000256447.4	-	3	1420	c.1263G>C	c.(1261-1263)caG>caC	p.Q421H	CTD-2306M10.1_ENST00000602471.1_lincRNA	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	421					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GGAGTTCTAGCTGAGGACATT	0.458																																						uc003juy.2		NA																	0				ovary(1)	1						c.(1261-1263)CAG>CAC		CD180 molecule precursor							167.0	172.0	170.0					5																	66479408		2203	4300	6503	SO:0001583	missense	4064				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	g.chr5:66479408C>G	D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.1263G>C	5.37:g.66479408C>G	ENSP00000256447:p.Gln421His						p.Q421H	NM_005582	NP_005573	Q99467	CD180_HUMAN		Lung(70;0.0046)	3	1411	-		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)	421			LRR 14.|Extracellular (Potential).		B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	37	c.1263G>C	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	C	5.773	0.327030	0.10900	.	.	ENSG00000134061	ENST00000256447	T	0.56941	0.43	4.81	-0.48	0.12085	.	1.687840	0.03367	N	0.198342	T	0.49592	0.1566	L	0.53617	1.68	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40384	-0.9566	10	0.48119	T	0.1	.	9.3382	0.38062	0.0:0.239:0.5964:0.1646	.	421	Q99467	CD180_HUMAN	H	421	ENSP00000256447:Q421H	ENSP00000256447:Q421H	Q	-	3	2	CD180	66515164	0.005000	0.15991	0.000000	0.03702	0.770000	0.43624	-0.149000	0.10204	-0.302000	0.08869	0.563000	0.77884	CAG		0.458	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		78	221	0	0	0	0	78	221				
ARHGEF28	64283	broad.mit.edu	37	5	73205267	73205267	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:73205267G>C	ENST00000426542.2	+	33	4212	c.4192G>C	c.(4192-4194)Gag>Cag	p.E1398Q	ARHGEF28_ENST00000437974.1_Missense_Mutation_p.E1398Q|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.E1398Q|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.E1398Q|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.E318Q|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.E1398Q|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.E1085Q|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.E1354Q			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1398					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										CAGCCACATTGAGATCCACAG	0.567																																						uc011csq.1		NA																	0					0						c.(4192-4194)GAG>CAG		Rho-guanine nucleotide exchange factor							36.0	40.0	39.0					5																	73205267		1988	4169	6157	SO:0001583	missense	64283				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding	g.chr5:73205267G>C		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.4192G>C	5.37:g.73205267G>C	ENSP00000412175:p.Glu1398Gln					RGNEF_uc003kcx.2_Missense_Mutation_p.E1398Q|RGNEF_uc010izf.2_Missense_Mutation_p.E1398Q|RGNEF_uc011csr.1_Missense_Mutation_p.E1085Q|RGNEF_uc003kcz.3_Missense_Mutation_p.E362Q|RGNEF_uc003kda.3_Missense_Mutation_p.E318Q	p.E1398Q	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)	33	4203	+		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)	1398					B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	c.4192G>C	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054207	0.55218	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799;ENST00000512883	T;T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.24	4.36	0.52297	.	0.000000	0.31210	U	0.008055	T	0.46014	0.1371	L	0.45470	1.425	0.40386	D	0.979498	P;P;P;P;P	0.46220	0.54;0.546;0.874;0.79;0.87	B;B;P;B;P	0.51101	0.152;0.244;0.458;0.291;0.659	T	0.47005	-0.9150	10	0.62326	D	0.03	.	10.1653	0.42877	0.0745:0.1385:0.7871:0.0	.	1085;1398;1398;318;1398	B5MDA3;Q8N1W1;E9PC75;D6RGZ3;Q8N1W1-4	.;RGNEF_HUMAN;.;.;.	Q	1398;1398;1398;1354;1398;1398;1085;318	ENSP00000296794:E1398Q;ENSP00000441913:E1398Q;ENSP00000441436:E1398Q;ENSP00000287898:E1354Q;ENSP00000411459:E1398Q;ENSP00000412175:E1398Q;ENSP00000296799:E1085Q;ENSP00000421081:E318Q	ENSP00000287898:E1354Q	E	+	1	0	RP11-428C6.1	73241023	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	6.309000	0.72825	1.185000	0.42971	0.555000	0.69702	GAG		0.567	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			7	28	0	0	0	0	7	28				
POLK	51426	broad.mit.edu	37	5	74892778	74892778	+	Missense_Mutation	SNP	G	G	A	rs143539365		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:74892778G>A	ENST00000241436.4	+	13	2432	c.2260G>A	c.(2260-2262)Gaa>Aaa	p.E754K	POLK_ENST00000352007.5_Missense_Mutation_p.E556K|POLK_ENST00000504026.1_Intron|POLK_ENST00000508526.1_Missense_Mutation_p.E556K|CTC-366B18.2_ENST00000511329.1_RNA|POLK_ENST00000380481.3_Missense_Mutation_p.E664K|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	754					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		ATTGGAAAACGAAGATGTTGG	0.368								DNA polymerases (catalytic subunits)					G|||	1	0.000199681	0.0	0.0014	5008	,	,		17575	0.0		0.0	False		,,,				2504	0.0					uc003kdw.2		NA																	0				ovary(2)|kidney(2)	4						c.(2260-2262)GAA>AAA	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase kappa		G	LYS/GLU	0,4406		0,0,2203	94.0	99.0	98.0		2260	3.3	0.3	5	dbSNP_134	98	3,8597	3.0+/-9.4	0,3,4297	yes	missense	POLK	NM_016218.2	56	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	754/871	74892778	3,13003	2203	4300	6503	SO:0001583	missense	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74892778G>A	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.2260G>A	5.37:g.74892778G>A	ENSP00000241436:p.Glu754Lys					POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Missense_Mutation_p.E556K|POLK_uc003kec.2_Missense_Mutation_p.E664K|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Missense_Mutation_p.E664K	p.E754K	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	13	2356	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	754					B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	c.2260G>A	CCDS4030.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	12.68	2.009395	0.35415	0.0	3.49E-4	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	T;T;T;T	0.56103	1.22;0.48;0.48;1.22	5.15	3.31	0.37934	.	1.510860	0.04035	N	0.302143	T	0.59321	0.2185	L	0.58101	1.795	0.22629	N	0.998916	P;D	0.63880	0.78;0.993	B;P	0.48334	0.187;0.574	T	0.45614	-0.9249	10	0.46703	T	0.11	-2.8201	10.5241	0.44936	0.0:0.2729:0.5857:0.1414	.	556;754	Q9UBT6-3;Q9UBT6	.;POLK_HUMAN	K	754;556;556;664	ENSP00000241436:E754K;ENSP00000342256:E556K;ENSP00000426853:E556K;ENSP00000369848:E664K	ENSP00000241436:E754K	E	+	1	0	POLK	74928534	0.795000	0.28851	0.285000	0.24819	0.121000	0.20230	0.530000	0.23036	0.709000	0.31976	0.650000	0.86243	GAA		0.368	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		13	204	0	0	0	0	13	204				
PDE8B	8622	broad.mit.edu	37	5	76700610	76700610	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:76700610C>T	ENST00000264917.5	+	12	1321	c.1276C>T	c.(1276-1278)Cga>Tga	p.R426*	PDE8B_ENST00000342343.4_Nonsense_Mutation_p.R406*|PDE8B_ENST00000340978.3_Nonsense_Mutation_p.R379*|PDE8B_ENST00000333194.4_Nonsense_Mutation_p.R426*|PDE8B_ENST00000346042.3_Nonsense_Mutation_p.R329*	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	426					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	GATATCATCTCGAGGCAGTGA	0.353																																						uc003kfa.2		NA																	0					0						c.(1276-1278)CGA>TGA		phosphodiesterase 8B isoform 1							94.0	90.0	92.0					5																	76700610		2203	4300	6503	SO:0001587	stop_gained	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76700610C>T	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1276C>T	5.37:g.76700610C>T	ENSP00000264917:p.Arg426*					PDE8B_uc003kfb.2_Nonsense_Mutation_p.R406*|PDE8B_uc003kfc.2_Nonsense_Mutation_p.R426*|PDE8B_uc003kfd.2_Nonsense_Mutation_p.R379*|PDE8B_uc003kfe.2_Nonsense_Mutation_p.R329*	p.R426*	NM_003719	NP_003710	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	12	1321	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	426					Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Nonsense_Mutation	SNP	ENST00000264917.5	37	c.1276C>T	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	C	37	6.035046	0.97221	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194	.	.	.	4.64	3.74	0.42951	.	3.009610	0.01103	N	0.005421	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7553	0.57331	0.298:0.702:0.0:0.0	.	.	.	.	X	379;329;426;406;426	.	ENSP00000264917:R426X	R	+	1	2	PDE8B	76736366	1.000000	0.71417	0.966000	0.40874	0.953000	0.61014	4.465000	0.60141	1.026000	0.39733	0.563000	0.77884	CGA		0.353	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		18	76	0	0	0	0	18	76				
CMYA5	202333	broad.mit.edu	37	5	79034791	79034791	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:79034791C>T	ENST00000446378.2	+	2	10234	c.10203C>T	c.(10201-10203)atC>atT	p.I3401I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3401					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.I3401I(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AACCTAAAATCCTGGTCCCAC	0.453																																						uc003kgc.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(6)|pancreas(2)|lung(1)	9						c.(10201-10203)ATC>ATT		cardiomyopathy associated 5							78.0	76.0	77.0					5																	79034791		1925	4117	6042	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79034791C>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.10203C>T	5.37:g.79034791C>T							p.I3401I	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	10275	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	3401					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.10203C>T	CCDS47238.1																																																																																				0.453	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		30	101	0	0	0	0	30	101				
THBS4	7060	broad.mit.edu	37	5	79366996	79366996	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:79366996T>A	ENST00000350881.2	+	13	1903	c.1713T>A	c.(1711-1713)gaT>gaA	p.D571E	CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.D480E	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	571					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ATGACATGGATGGAGATGGTA	0.423																																						uc003kgh.2		NA																	0					0						c.(1711-1713)GAT>GAA		thrombospondin 4 precursor							270.0	267.0	268.0					5																	79366996		2203	4300	6503	SO:0001583	missense	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79366996T>A		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1713T>A	5.37:g.79366996T>A	ENSP00000339730:p.Asp571Glu					uc003kgi.3_Intron	p.D571E	NM_003248	NP_003239	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	14	2036	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	571			TSP type-3 4.		B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	c.1713T>A	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.379321	0.82682	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.99914	-7.98;-7.98	5.23	2.87	0.33458	.	0.000000	0.85682	D	0.000000	D	0.99933	0.9970	H	0.97829	4.085	0.58432	D	0.999996	D	0.56968	0.978	D	0.74348	0.983	D	0.96851	0.9625	10	0.59425	D	0.04	-21.8936	9.3095	0.37895	0.0:0.145:0.0:0.855	.	571	P35443	TSP4_HUMAN	E	571;480	ENSP00000339730:D571E;ENSP00000422298:D480E	ENSP00000339730:D571E	D	+	3	2	THBS4	79402752	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.217000	0.32455	0.465000	0.27167	0.533000	0.62120	GAT		0.423	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			62	223	0	0	0	0	62	223				
RASA1	5921	broad.mit.edu	37	5	86564372	86564372	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:86564372G>T	ENST00000274376.6	+	1	668	c.104G>T	c.(103-105)cGg>cTg	p.R35L	RASA1_ENST00000506290.1_5'Flank|RASA1_ENST00000512763.1_5'Flank|RASA1_ENST00000456692.2_5'Flank	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	35					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GCAGTGTGTCGGGTGAAGATA	0.721																																						uc003kiw.2		NA																	0				upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5						c.(103-105)CGG>CTG		RAS p21 protein activator 1 isoform 1							8.0	13.0	11.0					5																	86564372		2176	4258	6434	SO:0001583	missense	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86564372G>T		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.104G>T	5.37:g.86564372G>T	ENSP00000274376:p.Arg35Leu					RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_5'Flank|RASA1_uc011ctv.1_5'Flank|RASA1_uc011ctw.1_5'Flank|RASA1_uc010jaw.2_5'Flank|RASA1_uc011ctu.1_Missense_Mutation_p.R35L	p.R35L	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	1	222	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	35					B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	c.104G>T	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646482	0.47258	.	.	ENSG00000145715	ENST00000274376;ENST00000534133	T	0.79141	-1.24	4.12	4.12	0.48240	.	7.225480	0.00763	N	0.001157	T	0.80253	0.4589	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.999;0.987	D;D	0.79784	0.993;0.931	T	0.71596	-0.4545	10	0.87932	D	0	.	12.0861	0.53698	0.0:0.0:1.0:0.0	.	68;35	Q59GK3;P20936	.;RASA1_HUMAN	L	35;68	ENSP00000274376:R35L	ENSP00000274376:R35L	R	+	2	0	RASA1	86600128	0.996000	0.38824	0.969000	0.41365	0.137000	0.21094	2.053000	0.41326	2.270000	0.75569	0.655000	0.94253	CGG		0.721	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		4	2	1	0	5.94e-07	6.16e-07	4	2				
GPR98	84059	broad.mit.edu	37	5	89981767	89981767	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:89981767G>C	ENST00000405460.2	+	29	6541	c.6445G>C	c.(6445-6447)Gat>Cat	p.D2149H		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2149	Calx-beta 15. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGCATTTGCAGATGTCTCTGT	0.428																																						uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(6445-6447)GAT>CAT		G protein-coupled receptor 98 precursor							77.0	69.0	72.0					5																	89981767		1910	4123	6033	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89981767G>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6445G>C	5.37:g.89981767G>C	ENSP00000384582:p.Asp2149His					GPR98_uc003kjt.2_5'UTR	p.D2149H	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	29	6541	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2149			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.6445G>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030092	0.93575	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.31510	1.49	5.8	5.8	0.92144	Na-Ca exchanger/integrin-beta4 (2);	0.042207	0.85682	D	0.000000	T	0.56673	0.2001	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.51733	-0.8668	10	0.46703	T	0.11	.	20.0503	0.97624	0.0:0.0:1.0:0.0	.	2149	Q8WXG9	GPR98_HUMAN	H	2149	ENSP00000384582:D2149H	ENSP00000296619:D2149H	D	+	1	0	GPR98	90017523	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.624000	0.98398	2.736000	0.93811	0.591000	0.81541	GAT		0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		6	29	0	0	0	0	6	29				
FAM81B	153643	broad.mit.edu	37	5	94784011	94784011	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:94784011G>C	ENST00000283357.5	+	9	1114	c.1068G>C	c.(1066-1068)caG>caC	p.Q356H		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	356						nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AACTGCTGCAGCTTTCAAGCA	0.313																																						uc003kla.1		NA																	0				ovary(1)|skin(1)	2						c.(1066-1068)CAG>CAC		hypothetical protein LOC153643							67.0	60.0	62.0					5																	94784011		1803	4073	5876	SO:0001583	missense	153643							g.chr5:94784011G>C		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.1068G>C	5.37:g.94784011G>C	ENSP00000283357:p.Gln356His					FAM81B_uc010jbe.1_Missense_Mutation_p.Q152H	p.Q356H	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN		all cancers(79;1.04e-16)	9	1114	+		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)	356			Potential.			Missense_Mutation	SNP	ENST00000283357.5	37	c.1068G>C	CCDS43341.1	.	.	.	.	.	.	.	.	.	.	G	7.749	0.702860	0.15172	.	.	ENSG00000153347	ENST00000283357;ENST00000512365	T	0.19394	2.15	5.63	-1.93	0.07594	.	1.068770	0.07119	N	0.843536	T	0.13072	0.0317	L	0.38838	1.175	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.37454	-0.9705	10	0.41790	T	0.15	-0.0811	0.718	0.00936	0.2821:0.2157:0.3093:0.1928	.	356	Q96LP2	FA81B_HUMAN	H	356;31	ENSP00000283357:Q356H	ENSP00000283357:Q356H	Q	+	3	2	FAM81B	94809767	0.001000	0.12720	0.434000	0.26772	0.772000	0.43724	-1.369000	0.02578	-0.076000	0.12775	-0.261000	0.10672	CAG		0.313	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548		9	52	0	0	0	0	9	52				
ERAP2	64167	broad.mit.edu	37	5	96219594	96219594	+	Missense_Mutation	SNP	G	G	A	rs199510383		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:96219594G>A	ENST00000437043.3	+	3	1385	c.674G>A	c.(673-675)cGa>cAa	p.R225Q	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000510309.1_Missense_Mutation_p.R225Q|ERAP2_ENST00000379904.4_Missense_Mutation_p.R225Q	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	225					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		ATCAAGATACGAAGAGAGAGC	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		20492	0.001		0.0	False		,,,				2504	0.0					uc003kmq.2		NA																	0					0						c.(673-675)CGA>CAA		endoplasmic reticulum aminopeptidase 2		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	93.0	84.0	87.0		674,674	5.2	1.0	5		87	0,8600		0,0,4300	no	missense,missense	ERAP2	NM_001130140.1,NM_022350.3	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	225/961,225/961	96219594	1,13005	2203	4300	6503	SO:0001583	missense	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96219594G>A	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.674G>A	5.37:g.96219594G>A	ENSP00000400376:p.Arg225Gln					uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.R225Q|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.R219Q|ERAP2_uc003kmu.2_RNA	p.R225Q	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	3	1384	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	225			Lumenal (Potential).		Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	c.674G>A	CCDS4086.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.76	3.211168	0.58343	2.27E-4	0.0	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904;ENST00000510309	T;T;T;T;T	0.04454	3.62;3.62;3.62;3.62;3.62	5.22	5.22	0.72569	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.13457	0.0326	L	0.59967	1.855	0.37319	D	0.90946	P;D	0.53885	0.954;0.963	P;P	0.56434	0.696;0.798	T	0.23762	-1.0179	10	0.13853	T	0.58	.	17.9147	0.88945	0.0:0.0:1.0:0.0	.	225;225	Q6P179-3;Q6P179	.;ERAP2_HUMAN	Q	225	ENSP00000400376:R225Q;ENSP00000421175:R225Q;ENSP00000421849:R225Q;ENSP00000369235:R225Q;ENSP00000425758:R225Q	ENSP00000369235:R225Q	R	+	2	0	ERAP2	96245350	1.000000	0.71417	0.999000	0.59377	0.534000	0.34807	2.815000	0.48018	2.592000	0.87571	0.557000	0.71058	CGA		0.418	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		20	84	0	0	0	0	20	84				
MAN2A1	4124	broad.mit.edu	37	5	109181672	109181672	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:109181672C>G	ENST00000261483.4	+	18	3859	c.2807C>G	c.(2806-2808)tCt>tGt	p.S936C		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	936					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		ACACTGCTCTCTGCTCAGTCA	0.413																																						uc003kou.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2806-2808)TCT>TGT		mannosidase, alpha, class 2A, member 1							251.0	232.0	239.0					5																	109181672		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109181672C>G		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.2807C>G	5.37:g.109181672C>G	ENSP00000261483:p.Ser936Cys						p.S936C	NM_002372	NP_002363	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	18	3770	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	936			Lumenal (Potential).		Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.2807C>G	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852381	0.71719	.	.	ENSG00000112893	ENST00000261483	T	0.80304	-1.36	5.51	5.51	0.81932	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.061993	0.64402	D	0.000002	D	0.91331	0.7266	M	0.87180	2.865	0.80722	D	1	D	0.67145	0.996	D	0.74023	0.982	D	0.92173	0.5745	10	0.87932	D	0	-16.8272	19.7796	0.96412	0.0:1.0:0.0:0.0	.	936	Q16706	MA2A1_HUMAN	C	936	ENSP00000261483:S936C	ENSP00000261483:S936C	S	+	2	0	MAN2A1	109209571	1.000000	0.71417	0.995000	0.50966	0.338000	0.28826	7.101000	0.76997	2.756000	0.94617	0.655000	0.94253	TCT		0.413	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			8	299	0	0	0	0	8	299				
STARD4	134429	broad.mit.edu	37	5	110836745	110836745	+	Missense_Mutation	SNP	C	C	G	rs375744963		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:110836745C>G	ENST00000296632.3	-	5	486	c.352G>C	c.(352-354)Gat>Cat	p.D118H	STARD4_ENST00000502322.1_Missense_Mutation_p.D118H|STARD4_ENST00000512160.1_Intron|STARD4_ENST00000509887.1_3'UTR|STARD4_ENST00000511569.1_5'UTR	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	118	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		TAGGAGAAATCAACAAATTCT	0.338																																						uc003kph.1		NA																	0				ovary(1)	1						c.(352-354)GAT>CAT		StAR-related lipid transfer (START) domain		C	HIS/ASP	1,4403	2.1+/-5.4	0,1,2201	125.0	138.0	133.0		352	5.7	1.0	5		133	0,8600		0,0,4300	no	missense	STARD4	NM_139164.1	81	0,1,6501	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging	118/206	110836745	1,13003	2202	4300	6502	SO:0001583	missense	134429				lipid transport		lipid binding	g.chr5:110836745C>G	AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211		"""StAR-related lipid transfer (START) domain containing"""	18058	protein-coding gene	gene with protein product		607049	"""START domain containing 4, sterol regulated"""			12011452	Standard	NM_139164		Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.352G>C	5.37:g.110836745C>G	ENSP00000296632:p.Asp118His					STARD4_uc010jbw.1_Missense_Mutation_p.D20H|STARD4_uc010jbx.1_Missense_Mutation_p.D20H|STARD4_uc003kpi.1_Intron|STARD4_uc003kpj.2_Missense_Mutation_p.D118H	p.D118H	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)	5	436	-		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)	118			START.		Q86TN9	Missense_Mutation	SNP	ENST00000296632.3	37	c.352G>C	CCDS4104.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621951	0.87460	2.27E-4	0.0	ENSG00000164211	ENST00000296632;ENST00000505803;ENST00000502322	T;T;T	0.78595	-1.19;-1.19;-1.19	5.71	5.71	0.89125	Lipid-binding START (2);START-like domain (1);	0.073926	0.56097	D	0.000031	D	0.88930	0.6571	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	D	0.85340	0.1095	10	0.16420	T	0.52	-0.9524	19.8631	0.96790	0.0:1.0:0.0:0.0	.	118;118	Q86TN9;Q96DR4	.;STAR4_HUMAN	H	118	ENSP00000296632:D118H;ENSP00000427478:D118H;ENSP00000427639:D118H	ENSP00000296632:D118H	D	-	1	0	STARD4	110864644	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.104000	0.71498	2.709000	0.92574	0.655000	0.94253	GAT		0.338	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250720.1	NM_139164		56	224	0	0	0	0	56	224				
APC	324	broad.mit.edu	37	5	112177508	112177508	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:112177508G>A	ENST00000457016.1	+	16	6597	c.6217G>A	c.(6217-6219)Ggt>Agt	p.G2073S	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.G2073S|APC_ENST00000257430.4_Missense_Mutation_p.G2073S			P25054	APC_HUMAN	adenomatous polyposis coli	2073	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGGCATATTAGGTGAAGATCT	0.383		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		1	Unknown(1)	p.?(1)	skin(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515						c.(6217-6219)GGT>AGT		adenomatous polyposis coli							85.0	86.0	86.0					5																	112177508		2202	4300	6502	SO:0001583	missense	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112177508G>A	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.6217G>A	5.37:g.112177508G>A	ENSP00000413133:p.Gly2073Ser	TSP Lung(16;0.13)				APC_uc011cvt.1_Missense_Mutation_p.G2055S|APC_uc003kpz.3_Missense_Mutation_p.G2073S|APC_uc003kpy.3_Missense_Mutation_p.G2073S|APC_uc010jbz.2_Missense_Mutation_p.G1790S|APC_uc010jca.2_Missense_Mutation_p.G1373S	p.G2073S	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	6597	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	2073			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.6217G>A	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	9.939	1.216856	0.22373	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.88509	-2.39;-2.39;-2.39	5.9	5.9	0.94986	.	0.104632	0.64402	D	0.000004	T	0.77671	0.4165	N	0.03608	-0.345	0.19775	N	0.99995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.55528	-0.8127	9	.	.	.	-11.6844	19.8965	0.96963	0.0:0.0:1.0:0.0	.	2075;2073	Q4LE70;P25054	.;APC_HUMAN	S	2073	ENSP00000413133:G2073S;ENSP00000257430:G2073S;ENSP00000427089:G2073S	.	G	+	1	0	APC	112205407	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.084000	0.64462	2.786000	0.95864	0.650000	0.86243	GGT		0.383	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		49	114	0	0	0	0	49	114				
APC	324	broad.mit.edu	37	5	112179224	112179224	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:112179224T>C	ENST00000457016.1	+	16	8313	c.7933T>C	c.(7933-7935)Tat>Cat	p.Y2645H	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.Y2645H|APC_ENST00000257430.4_Missense_Mutation_p.Y2645H			P25054	APC_HUMAN	adenomatous polyposis coli	2645	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GACTCTAATTTATCAAATGGC	0.388		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		1	Unknown(1)	p.?(1)	skin(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515						c.(7933-7935)TAT>CAT		adenomatous polyposis coli							96.0	106.0	103.0					5																	112179224		2202	4300	6502	SO:0001583	missense	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112179224T>C	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.7933T>C	5.37:g.112179224T>C	ENSP00000413133:p.Tyr2645His	TSP Lung(16;0.13)				APC_uc011cvt.1_Missense_Mutation_p.Y2627H|APC_uc003kpz.3_Missense_Mutation_p.Y2645H|APC_uc003kpy.3_Missense_Mutation_p.Y2645H|APC_uc010jbz.2_Missense_Mutation_p.Y2362H|APC_uc010jca.2_Missense_Mutation_p.Y1945H	p.Y2645H	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	8313	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	2645			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.7933T>C	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	T	13.34	2.206504	0.39003	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.89270	-2.49;-2.49;-2.49	6.17	6.17	0.99709	.	0.124849	0.56097	D	0.000037	D	0.89262	0.6665	L	0.27053	0.805	0.45490	D	0.998455	D;D	0.67145	0.996;0.996	P;P	0.59171	0.853;0.853	D	0.88303	0.2951	9	.	.	.	-18.0319	16.8222	0.85835	0.0:0.0:0.0:1.0	.	2647;2645	Q4LE70;P25054	.;APC_HUMAN	H	2645	ENSP00000413133:Y2645H;ENSP00000257430:Y2645H;ENSP00000427089:Y2645H	.	Y	+	1	0	APC	112207123	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.546000	0.60705	2.371000	0.80710	0.533000	0.62120	TAT		0.388	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		92	165	0	0	0	0	92	165				
LVRN	206338	broad.mit.edu	37	5	115361749	115361749	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:115361749G>A	ENST00000357872.4	+	20	3031	c.2907G>A	c.(2905-2907)aaG>aaA	p.K969K	CTD-2287O16.3_ENST00000600981.3_Intron	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		969						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										AGACAATAAAGAATGAAAATC	0.433																																						uc003kro.2		NA																	0					0						c.(2905-2907)AAG>AAA		laeverin							91.0	80.0	84.0					5																	115361749		2202	4300	6502	SO:0001819	synonymous_variant	206338				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115361749G>A																												ENST00000357872.4:c.2907G>A	5.37:g.115361749G>A						AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA	p.K969K	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN			20	3071	+			969			Lumenal (Potential).		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	ENST00000357872.4	37	c.2907G>A	CCDS4124.1																																																																																				0.433	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			4	91	0	0	0	0	4	91				
DTWD2	285605	broad.mit.edu	37	5	118176651	118176651	+	Silent	SNP	G	G	C	rs138333410		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:118176651G>C	ENST00000510708.1	-	6	891	c.858C>G	c.(856-858)ctC>ctG	p.L286L	DTWD2_ENST00000515439.3_Silent_p.L190L|DTWD2_ENST00000304058.4_Silent_p.L220L	NM_173666.2	NP_775937.1	Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	286										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		CCATTTTCCTGAGTTTGCGTT	0.348																																						uc003ksa.2		NA																	0					0						c.(856-858)CTC>CTG		DTW domain containing 2							138.0	123.0	128.0					5																	118176651		2202	4300	6502	SO:0001819	synonymous_variant	285605							g.chr5:118176651G>C		CCDS34216.1	5q23.1	2008-02-05			ENSG00000169570	ENSG00000169570			19334	protein-coding gene	gene with protein product							Standard	NM_173666		Approved	FLJ33977	uc003ksa.3	Q8NBA8	OTTHUMG00000162956	ENST00000510708.1:c.858C>G	5.37:g.118176651G>C							p.L286L	NM_173666	NP_775937	Q8NBA8	DTWD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)	6	892	-		all_epithelial(76;0.0982)|Prostate(80;0.121)	286						Silent	SNP	ENST00000510708.1	37	c.858C>G	CCDS34216.1																																																																																				0.348	DTWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371167.2	NM_173666		8	65	0	0	0	0	8	65				
PRR16	51334	broad.mit.edu	37	5	120021840	120021840	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:120021840G>A	ENST00000407149.2	+	2	560	c.351G>A	c.(349-351)ctG>ctA	p.L117L	PRR16_ENST00000505123.1_Silent_p.L47L|PRR16_ENST00000379551.2_Silent_p.L94L|PRR16_ENST00000446965.1_Silent_p.L47L			Q569H4	LARGN_HUMAN	proline rich 16	117	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TCACGGTCCTGAGAAAGCCAA	0.522																																						uc003ksq.2		NA																	0				pancreas(2)|ovary(1)	3						c.(349-351)CTG>CTA		proline rich 16							140.0	121.0	128.0					5																	120021840		2203	4300	6503	SO:0001819	synonymous_variant	51334							g.chr5:120021840G>A	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.351G>A	5.37:g.120021840G>A						PRR16_uc003ksp.2_Silent_p.L94L|PRR16_uc003ksr.2_Silent_p.L47L	p.L117L	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	2	514	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	117			Pro-rich.		D3DSZ0|Q8IXY1|Q9NYI5	Silent	SNP	ENST00000407149.2	37	c.351G>A																																																																																					0.522	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		45	91	0	0	0	0	45	91				
ZNF608	57507	broad.mit.edu	37	5	123983566	123983566	+	Silent	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:123983566C>A	ENST00000306315.5	-	4	2946	c.2511G>T	c.(2509-2511)ggG>ggT	p.G837G	ZNF608_ENST00000504926.1_Silent_p.G410G	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	837							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CCTCTAGTTTCCCCAGCTTGG	0.463																																						uc003ktq.1		NA																	0				skin(3)|ovary(2)|lung(1)	6						c.(2509-2511)GGG>GGT		zinc finger protein 608							154.0	162.0	159.0					5																	123983566		2203	4300	6503	SO:0001819	synonymous_variant	57507					intracellular	zinc ion binding	g.chr5:123983566C>A	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.2511G>T	5.37:g.123983566C>A						ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Silent_p.G837G|ZNF608_uc003ktt.1_Silent_p.G837G	p.G837G	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	2634	-		all_cancers(142;0.186)|Prostate(80;0.081)	837					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP	ENST00000306315.5	37	c.2511G>T	CCDS34219.1																																																																																				0.463	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		91	263	1	0	8.04e-26	8.62e-26	91	263				
ALDH7A1	501	broad.mit.edu	37	5	125928409	125928409	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:125928409C>G	ENST00000409134.3	-	3	478	c.259G>C	c.(259-261)Gac>Cac	p.D87H	ALDH7A1_ENST00000413020.1_5'UTR|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.D87H|ALDH7A1_ENST00000447989.2_Missense_Mutation_p.D114H	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	87					cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043)			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)		TCTTCATAGTCTGCCACACTG	0.368																																						uc003ktx.2		NA																	0				kidney(2)|ovary(1)	3						c.(259-261)GAC>CAC		aldehyde dehydrogenase 7 family, member A1	NADH(DB00157)|Pyridoxine(DB00165)						93.0	89.0	91.0					5																	125928409		2203	4300	6503	SO:0001583	missense	501				cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity	g.chr5:125928409C>G	S74728	CCDS4137.2, CCDS56380.1	5q31	2013-06-03			ENSG00000164904	ENSG00000164904	1.2.1.31	"""Aldehyde dehydrogenases"""	877	protein-coding gene	gene with protein product	"""antiquitin 1"", ""26g turgor protein homolog"", ""alpha-aminoadipic semialdehyde dehydrogenase"", ""alpha-AASA dehydrogenase"", ""delta1-piperideine-6-carboxylate dehydrogenease"", ""P6c dehydrogenase"""	107323		ATQ1		9417906	Standard	NM_001182		Approved	EPD, PDE	uc003ktx.3	P49419	OTTHUMG00000128942	ENST00000409134.3:c.259G>C	5.37:g.125928409C>G	ENSP00000387123:p.Asp87His					ALDH7A1_uc003kty.2_RNA|ALDH7A1_uc011cxa.1_Missense_Mutation_p.D114H|ALDH7A1_uc003ktz.2_Missense_Mutation_p.D114H	p.D87H	NM_001182	NP_001173	P49419	AL7A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	3	451	-		all_cancers(142;0.24)|Prostate(80;0.081)	87					B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Missense_Mutation	SNP	ENST00000409134.3	37	c.259G>C	CCDS4137.2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372913	0.82573	.	.	ENSG00000164904	ENST00000409134;ENST00000553117;ENST00000447989;ENST00000510111	T;T;T;D	0.92348	-1.31;-1.31;-1.31;-3.02	4.72	4.72	0.59763	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.052668	0.85682	D	0.000000	D	0.95815	0.8638	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	0.999;0.997;1.0	D;D;D	0.91635	0.987;0.933;0.999	D	0.96207	0.9150	10	0.87932	D	0	.	17.8273	0.88669	0.0:1.0:0.0:0.0	.	114;114;87	E7EPT3;B4DMA0;P49419	.;.;AL7A1_HUMAN	H	87;87;114;85	ENSP00000387123:D87H;ENSP00000448593:D87H;ENSP00000414132:D114H;ENSP00000447388:D85H	ENSP00000387123:D87H	D	-	1	0	ALDH7A1	125956308	1.000000	0.71417	0.980000	0.43619	0.898000	0.52572	7.343000	0.79319	2.604000	0.88044	0.563000	0.77884	GAC		0.368	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250921.2	NM_001182		10	41	0	0	0	0	10	41				
PHAX	51808	broad.mit.edu	37	5	125939416	125939416	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:125939416G>C	ENST00000297540.4	+	2	946	c.251G>C	c.(250-252)cGa>cCa	p.R84P	PHAX_ENST00000514725.1_3'UTR	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	84	Necessary for interaction with CBP80. {ECO:0000250}.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						AAACGCAAACGACAGAAATGT	0.418																																						uc003kua.1		NA																	0					0						c.(250-252)CGA>CCA		RNA U, small nuclear RNA export adaptor							120.0	121.0	121.0					5																	125939416		2203	4300	6503	SO:0001583	missense	51808				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding	g.chr5:125939416G>C	AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"""RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"""	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.251G>C	5.37:g.125939416G>C	ENSP00000297540:p.Arg84Pro						p.R84P	NM_032177	NP_115553	Q9H814	PHAX_HUMAN			2	273	+			84			Necessary for interaction with CBP80 (By similarity).|Nuclear localization signal (By similarity).		Q9H8W1	Missense_Mutation	SNP	ENST00000297540.4	37	c.251G>C	CCDS4138.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420392	0.83559	.	.	ENSG00000164902	ENST00000297540;ENST00000456348	T	0.21543	2.0	5.74	4.87	0.63330	.	0.062510	0.64402	D	0.000003	T	0.44973	0.1319	M	0.72894	2.215	0.58432	D	0.999999	D	0.76494	0.999	D	0.69479	0.964	T	0.46775	-0.9167	10	0.72032	D	0.01	-15.6062	14.6272	0.68629	0.0699:0.0:0.9301:0.0	.	84	Q9H814	PHAX_HUMAN	P	84	ENSP00000297540:R84P	ENSP00000297540:R84P	R	+	2	0	PHAX	125967315	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.724000	0.84798	1.422000	0.47177	0.655000	0.94253	CGA		0.418	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250924.1	NM_032177		18	116	0	0	0	0	18	116				
CATSPER3	347732	broad.mit.edu	37	5	134344589	134344589	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:134344589G>T	ENST00000282611.6	+	5	820	c.734G>T	c.(733-735)cGg>cTg	p.R245L		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	245					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTTTGAGCCGGGCATTCACC	0.532																																						uc003lag.2		NA																	0				ovary(1)	1						c.(733-735)CGG>CTG		cation channel, sperm associated 3							262.0	225.0	237.0					5																	134344589		2203	4300	6503	SO:0001583	missense	347732				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr5:134344589G>T	AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"""Voltage-gated ion channels / Cation channels, sperm associated"""	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.734G>T	5.37:g.134344589G>T	ENSP00000282611:p.Arg245Leu						p.R245L	NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		5	802	+			245			Extracellular (Potential).		Q86XS6	Missense_Mutation	SNP	ENST00000282611.6	37	c.734G>T	CCDS4181.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055588	0.93793	.	.	ENSG00000152705	ENST00000282611	D	0.97959	-4.63	5.35	4.49	0.54785	Ion transport (1);	0.132813	0.34110	N	0.004256	D	0.97340	0.9130	L	0.45581	1.43	0.34799	D	0.736578	D	0.63880	0.993	D	0.65323	0.934	D	0.98030	1.0376	10	0.23891	T	0.37	-9.8309	11.591	0.50945	0.0844:0.0:0.9156:0.0	.	245	Q86XQ3	CTSR3_HUMAN	L	245	ENSP00000282611:R245L	ENSP00000282611:R245L	R	+	2	0	CATSPER3	134372488	1.000000	0.71417	0.761000	0.31378	0.842000	0.47809	4.441000	0.59981	1.406000	0.46857	0.563000	0.77884	CGG		0.532	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2	NM_178019		32	92	1	0	3.8e-20	4.07e-20	32	92				
FAM13B	51306	broad.mit.edu	37	5	137275949	137275949	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:137275949G>C	ENST00000033079.3	-	23	3164	c.2713C>G	c.(2713-2715)Ctt>Gtt	p.L905V	FAM13B_ENST00000425075.2_Missense_Mutation_p.L781V|PKD2L2_ENST00000508883.1_Intron|PKD2L2_ENST00000290431.5_3'UTR|PKD2L2_ENST00000502810.1_3'UTR|PKD2L2_ENST00000508638.1_3'UTR|FAM13B_ENST00000420893.2_Missense_Mutation_p.L877V	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	905					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						TTGCTTATAAGAACTTCAAGA	0.373																																						uc003lbz.2		NA																	0					0						c.(2713-2715)CTT>GTT		hypothetical protein LOC51306 isoform 1							118.0	115.0	116.0					5																	137275949		2203	4300	6503	SO:0001583	missense	51306				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137275949G>C	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.2713C>G	5.37:g.137275949G>C	ENSP00000033079:p.Leu905Val					FAM13B_uc003lcb.2_Missense_Mutation_p.L781V|FAM13B_uc003lca.2_Missense_Mutation_p.L877V|PKD2L2_uc003lbw.1_3'UTR|PKD2L2_uc003lbx.2_3'UTR|PKD2L2_uc003lby.2_Intron|PKD2L2_uc011cyi.1_3'UTR	p.L905V	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN			23	3247	-			905					D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	37	c.2713C>G	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586822	0.86851	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	T;T;T	0.60672	1.4;0.17;1.26	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.77485	0.4137	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.998;0.996;0.996	T	0.79487	-0.1783	10	0.87932	D	0	-9.669	19.4556	0.94886	0.0:0.0:1.0:0.0	.	781;877;905	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	V	905;781;877	ENSP00000033079:L905V;ENSP00000394669:L781V;ENSP00000388521:L877V	ENSP00000033079:L905V	L	-	1	0	FAM13B	137303848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.496000	0.81526	2.679000	0.91253	0.591000	0.81541	CTT		0.373	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			28	67	0	0	0	0	28	67				
NDUFA2	4695	broad.mit.edu	37	5	140026901	140026901	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140026901C>T	ENST00000252102.4	-	2	349	c.148G>A	c.(148-150)Gac>Aac	p.D50N	NDUFA2_ENST00000512088.1_Missense_Mutation_p.D50N|NDUFA2_ENST00000510680.1_5'Flank|IK_ENST00000417647.2_5'Flank|MIR3655_ENST00000581765.1_RNA	NM_001185012.1|NM_002488.4	NP_001171941.1|NP_002479.1	O43678	NDUA2_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa	50			D -> N (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.D50N(1)		breast(1)|endometrium(3)|large_intestine(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGGTAGGTCGGGATTCGCC	0.662																																						uc003lgp.2		NA																	1	Substitution - Missense(1)	p.D50N(1)	breast(1)	breast(1)	1						c.(148-150)GAC>AAC		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						106.0	92.0	97.0					5																	140026901		2203	4300	6503	SO:0001583	missense	4695				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr5:140026901C>T	AF047185	CCDS4234.1, CCDS54911.1	5q31.2	2011-07-04	2002-08-29		ENSG00000131495	ENSG00000131495		"""Mitochondrial respiratory chain complex / Complex I"""	7685	protein-coding gene	gene with protein product	"""complex I B8 subunit"""	602137	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2 (8kD, B8)"""			9425316, 9763676	Standard	NM_002488		Approved	B8	uc003lgp.3	O43678	OTTHUMG00000129505	ENST00000252102.4:c.148G>A	5.37:g.140026901C>T	ENSP00000252102:p.Asp50Asn					IK_uc011czk.1_5'Flank|IK_uc003lgq.2_5'Flank	p.D50N	NM_002488	NP_002479	O43678	NDUA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	220	-			50		D -> N (in a breast cancer sample; somatic mutation).			D6RJD6|Q6IAY8	Missense_Mutation	SNP	ENST00000252102.4	37	c.148G>A	CCDS4234.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279134	0.59758	.	.	ENSG00000131495	ENST00000252102;ENST00000512088	.	.	.	6.04	3.25	0.37280	Ribosomal protein/NADH dehydrogenase domain (2);Thioredoxin-like fold (1);	0.429674	0.30762	N	0.008940	T	0.41143	0.1146	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.22730	-1.0208	7	.	.	.	-13.8271	12.0875	0.53706	0.0:0.8147:0.0:0.1853	.	50	O43678	NDUA2_HUMAN	N	50	.	.	D	-	1	0	NDUFA2	140007085	0.559000	0.26562	1.000000	0.80357	0.932000	0.56968	1.274000	0.33132	1.537000	0.49254	0.563000	0.77884	GAC		0.662	NDUFA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251679.2	NM_002488		6	81	0	0	0	0	6	81				
PCDHAC2	56134	broad.mit.edu	37	5	140348753	140348753	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140348753C>G	ENST00000289269.5	+	1	2934	c.2402C>G	c.(2401-2403)tCa>tGa	p.S801*	PCDHA13_ENST00000289272.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	801					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGCAGGCTCAGGGAGTGAC	0.552																																					Melanoma(190;638 2083 3390 11909 52360)	uc003lii.2		NA																	0				ovary(2)|skin(2)	4						c.(2401-2403)TCA>TGA		protocadherin alpha subfamily C, 2 isoform 1							83.0	80.0	81.0					5																	140348753		2203	4300	6503	SO:0001587	stop_gained	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140348753C>G	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.2402C>G	5.37:g.140348753C>G	ENSP00000289269:p.Ser801*					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Nonsense_Mutation_p.S801*	p.S801*	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2642	+			801			Cytoplasmic (Potential).		Q2M3V1|Q9Y5F4	Nonsense_Mutation	SNP	ENST00000289269.5	37	c.2402C>G	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	C	44	10.541469	0.99424	.	.	ENSG00000243232	ENST00000289269	.	.	.	5.19	5.19	0.71726	.	0.000000	0.34906	N	0.003584	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7059	0.91639	0.0:1.0:0.0:0.0	.	.	.	.	X	801	.	ENSP00000289269:S801X	S	+	2	0	PCDHAC2	140328937	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.473000	0.81007	2.436000	0.82500	0.462000	0.41574	TCA		0.552	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		16	109	0	0	0	0	16	109				
PCDHB2	56133	broad.mit.edu	37	5	140474836	140474836	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140474836C>G	ENST00000194155.4	+	1	610	c.462C>G	c.(460-462)ttC>ttG	p.F154L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	154	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAACTACTTTCTTAATAGAAC	0.393																																						uc003lil.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(460-462)TTC>TTG		protocadherin beta 2 precursor							28.0	31.0	30.0					5																	140474836		2196	4298	6494	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140474836C>G	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.462C>G	5.37:g.140474836C>G	ENSP00000194155:p.Phe154Leu					PCDHB2_uc003lim.1_Intron	p.F154L	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	600	+			154			Extracellular (Potential).|Cadherin 2.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.462C>G	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	9.832	1.188674	0.21954	.	.	ENSG00000112852	ENST00000194155	T	0.47177	0.85	5.14	0.323	0.15893	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.39860	0.1094	L	0.41906	1.305	0.22378	N	0.999159	B	0.33612	0.419	B	0.37387	0.248	T	0.33752	-0.9856	9	0.52906	T	0.07	.	9.6793	0.40061	0.0:0.4923:0.0:0.5077	.	154	Q9Y5E7	PCDB2_HUMAN	L	154	ENSP00000194155:F154L	ENSP00000194155:F154L	F	+	3	2	PCDHB2	140455020	0.000000	0.05858	0.960000	0.40013	0.243000	0.25628	-3.200000	0.00561	0.039000	0.15632	-0.794000	0.03295	TTC		0.393	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		12	58	0	0	0	0	12	58				
PCDHB3	56132	broad.mit.edu	37	5	140481673	140481673	+	Silent	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140481673A>G	ENST00000231130.2	+	1	1440	c.1440A>G	c.(1438-1440)tcA>tcG	p.S480S	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	480	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGAGACTCAGGCACCAACG	0.647																																						uc003lio.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1438-1440)TCA>TCG		protocadherin beta 3 precursor							88.0	91.0	90.0					5																	140481673		2203	4298	6501	SO:0001819	synonymous_variant	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481673A>G	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1440A>G	5.37:g.140481673A>G						uc003lin.2_Intron	p.S480S	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1440	+			480			Extracellular (Potential).|Cadherin 5.		B2R8P2	Silent	SNP	ENST00000231130.2	37	c.1440A>G	CCDS4245.1																																																																																				0.647	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		44	128	0	0	0	0	44	128				
PCDHB14	56122	broad.mit.edu	37	5	140604130	140604130	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140604130G>A	ENST00000239449.4	+	1	1053	c.1053G>A	c.(1051-1053)tcG>tcA	p.S351S	PCDHB14_ENST00000515856.2_Silent_p.S198S	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	351					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S351S(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCATATCGTCGATTACAAAGA	0.428																																					Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)	1						c.(1051-1053)TCG>TCA		protocadherin beta 14 precursor							87.0	95.0	92.0					5																	140604130		2203	4300	6503	SO:0001819	synonymous_variant	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604130G>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1053G>A	5.37:g.140604130G>A						PCDHB14_uc011dal.1_Silent_p.S198S	p.S351S	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1053	+			351			Extracellular (Potential).		B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	c.1053G>A	CCDS4256.1																																																																																				0.428	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		37	82	0	0	0	0	37	82				
PCDHGA2	56113	broad.mit.edu	37	5	140720878	140720878	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140720878C>T	ENST00000394576.2	+	1	2340	c.2340C>T	c.(2338-2340)atC>atT	p.I780I	PCDHGA3_ENST00000253812.6_5'Flank|PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	780					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGCTCATCAGCCAGGAGA	0.498																																						uc003ljk.1		NA																	0				skin(2)|ovary(1)	3						c.(2338-2340)ATC>ATT		protocadherin gamma subfamily A, 2 isoform 1							87.0	94.0	91.0					5																	140720878		2203	4300	6503	SO:0001819	synonymous_variant	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140720878C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2340C>T	5.37:g.140720878C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Silent_p.I780I|PCDHGA3_uc011dap.1_5'Flank	p.I780I	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2525	+			780			Cytoplasmic (Potential).		Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.2340C>T	CCDS47289.1																																																																																				0.498	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		47	133	0	0	0	0	47	133				
PCDHGB1	56104	broad.mit.edu	37	5	140732048	140732048	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140732048G>A	ENST00000523390.1	+	1	2221	c.2221G>A	c.(2221-2223)Gag>Aag	p.E741K	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	741					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACCACAGCGAGGGGACTTT	0.562																																						uc003ljo.1		NA																	0					0						c.(2221-2223)GAG>AAG		protocadherin gamma subfamily B, 1 isoform 1							97.0	100.0	99.0					5																	140732048		1973	4146	6119	SO:0001583	missense	56104				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140732048G>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.2221G>A	5.37:g.140732048G>A	ENSP00000429273:p.Glu741Lys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA4_uc003ljq.1_5'Flank|PCDHGB1_uc011daq.1_Missense_Mutation_p.E741K|PCDHGA4_uc003ljp.1_5'Flank	p.E741K	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2221	+			741			Cytoplasmic (Potential).		Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.2221G>A	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	16.52	3.146666	0.57151	.	.	ENSG00000254221	ENST00000523390	T	0.48201	0.82	5.25	4.36	0.52297	.	.	.	.	.	T	0.65312	0.2679	M	0.88775	2.98	0.09310	N	0.999997	D;P	0.65815	0.995;0.947	P;P	0.55545	0.778;0.505	T	0.59547	-0.7434	9	0.51188	T	0.08	.	9.2381	0.37479	0.0773:0.1475:0.7753:0.0	.	741;741	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	K	741	ENSP00000429273:E741K	ENSP00000429273:E741K	E	+	1	0	PCDHGB1	140712232	0.008000	0.16893	0.029000	0.17559	0.030000	0.12068	1.544000	0.36158	1.296000	0.44742	0.655000	0.94253	GAG		0.562	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		27	129	0	0	0	0	27	129				
PCDHGA6	56109	broad.mit.edu	37	5	140755614	140755614	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140755614C>T	ENST00000517434.1	+	1	1964	c.1964C>T	c.(1963-1965)tCc>tTc	p.S655F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	655	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCCTCTCTCCGCCACTGTC	0.706																																						uc003ljy.1		NA																	0				breast(1)	1						c.(1963-1965)TCC>TTC		protocadherin gamma subfamily A, 6 isoform 1							24.0	32.0	29.0					5																	140755614		2172	4256	6428	SO:0001583	missense	56109				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140755614C>T	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1964C>T	5.37:g.140755614C>T	ENSP00000429601:p.Ser655Phe					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.S655F	p.S655F	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1964	+			655			Extracellular (Potential).|Cadherin 6.		A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.1964C>T	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	18.81	3.702824	0.68501	.	.	ENSG00000253731	ENST00000517434	T	0.55052	0.54	4.67	4.67	0.58626	Cadherin (4);Cadherin-like (1);	0.000000	0.29321	U	0.012495	T	0.80210	0.4581	M	0.93594	3.435	0.41833	D	0.990082	D;D	0.89917	1.0;1.0	D;D	0.83275	0.99;0.996	D	0.86104	0.1558	10	0.87932	D	0	.	18.1188	0.89565	0.0:1.0:0.0:0.0	.	655;655	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	F	655	ENSP00000429601:S655F	ENSP00000429601:S655F	S	+	2	0	PCDHGA6	140735798	0.998000	0.40836	0.960000	0.40013	0.709000	0.40893	3.919000	0.56439	2.570000	0.86706	0.563000	0.77884	TCC		0.706	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		8	40	0	0	0	0	8	40				
PCDHGB4	8641	broad.mit.edu	37	5	140768392	140768392	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:140768392C>A	ENST00000519479.1	+	1	941	c.941C>A	c.(940-942)tCc>tAc	p.S314Y	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	314	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGAATATTCCATAGTTTTG	0.408																																						uc003lkc.1		NA																	0					0						c.(940-942)TCC>TAC		protocadherin gamma subfamily B, 4 isoform 1							63.0	58.0	60.0					5																	140768392		1880	4124	6004	SO:0001583	missense	8641				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140768392C>A	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.941C>A	5.37:g.140768392C>A	ENSP00000428288:p.Ser314Tyr					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.S314Y	p.S314Y	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	941	+			314			Cadherin 3.|Extracellular (Potential).		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.941C>A	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	18.84	3.708717	0.68615	.	.	ENSG00000253953	ENST00000519479	T	0.03181	4.02	5.09	4.15	0.48705	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.08714	0.0216	L	0.50993	1.605	0.09310	N	1	D;D	0.58970	0.98;0.984	P;P	0.56163	0.782;0.793	T	0.21143	-1.0254	9	0.87932	D	0	.	6.4106	0.21688	0.3646:0.5476:0.0:0.0878	.	314;314	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	Y	314	ENSP00000428288:S314Y	ENSP00000428288:S314Y	S	+	2	0	PCDHGB4	140748576	0.000000	0.05858	0.072000	0.20136	0.518000	0.34316	0.671000	0.25172	2.525000	0.85131	0.655000	0.94253	TCC		0.408	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		38	35	1	0	5.04e-16	5.36e-16	38	35				
YIPF5	81555	broad.mit.edu	37	5	143544999	143544999	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:143544999C>T	ENST00000274496.5	-	3	414	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	YIPF5_ENST00000513112.1_Missense_Mutation_p.E40K|YIPF5_ENST00000448443.2_Missense_Mutation_p.E94K	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	94	Interaction with Sec23.				protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum exit site (GO:0070971)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ATCTTACCTTCTAATAAAGGT	0.378																																						uc003lnk.3		NA																	0				ovary(1)|skin(1)	2						c.(280-282)GAA>AAA		Yip1 domain family, member 5							139.0	126.0	131.0					5																	143544999		2203	4300	6503	SO:0001583	missense	81555				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane		g.chr5:143544999C>T	AF318329	CCDS4279.1, CCDS64277.1	5q31.3	2009-01-12			ENSG00000145817	ENSG00000145817		"""Yip1 domain family"""	24877	protein-coding gene	gene with protein product		611483				12975309, 18718466	Standard	NM_001024947		Approved	SMAP-5, FinGER5	uc003lnl.5	Q969M3	OTTHUMG00000129679	ENST00000274496.5:c.280G>A	5.37:g.143544999C>T	ENSP00000274496:p.Glu94Lys					YIPF5_uc003lnl.3_Missense_Mutation_p.E94K|YIPF5_uc010jgl.2_Missense_Mutation_p.E40K	p.E94K	NM_001024947	NP_001020118	Q969M3	YIPF5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		3	721	-		all_hematologic(541;0.118)	94			Cytoplasmic (Potential).|Interaction with Sec23.		D3DQF5|Q4VSN6|Q53EX4|Q8NHE5|Q9H338|Q9H3U4	Missense_Mutation	SNP	ENST00000274496.5	37	c.280G>A	CCDS4279.1	.	.	.	.	.	.	.	.	.	.	C	30	5.052115	0.93793	.	.	ENSG00000145817	ENST00000274496;ENST00000377986;ENST00000448443;ENST00000513112;ENST00000519064;ENST00000522203;ENST00000536767	T;T;T	0.57273	0.77;0.77;0.41	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.74412	0.3713	M	0.86268	2.805	0.80722	D	1	D	0.56035	0.974	P	0.58013	0.831	T	0.76881	-0.2795	10	0.72032	D	0.01	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	94	Q969M3	YIPF5_HUMAN	K	94;94;94;40;40;40;94	ENSP00000274496:E94K;ENSP00000397704:E94K;ENSP00000425422:E40K	ENSP00000274496:E94K	E	-	1	0	YIPF5	143525192	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.741000	0.84997	2.857000	0.98124	0.650000	0.86243	GAA		0.378	YIPF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251882.1	NM_030799		18	105	0	0	0	0	18	105				
TNIP1	10318	broad.mit.edu	37	5	150415257	150415257	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:150415257G>A	ENST00000389378.2	-	14	1995	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F	TNIP1_ENST00000520931.1_Silent_p.F416F|TNIP1_ENST00000522226.1_Silent_p.F469F|TNIP1_ENST00000315050.7_Silent_p.F469F|TNIP1_ENST00000524280.1_Silent_p.F469F|TNIP1_ENST00000523200.1_Silent_p.F469F|TNIP1_ENST00000523338.1_Silent_p.F469F|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000518977.1_Silent_p.F469F|TNIP1_ENST00000521591.1_Silent_p.F469F	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	469	Required for inhibitory activity of TNF- induced NF-kappa-B activation. {ECO:0000250}.|Ubiquitin-binding domain (UBD).				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTCCTCCTCGAAGATCTTCA	0.597																																						uc003ltf.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1405-1407)TTC>TTT		TNFAIP3 interacting protein 1							84.0	72.0	76.0					5																	150415257		2203	4300	6503	SO:0001819	synonymous_variant	10318				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150415257G>A	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.1407C>T	5.37:g.150415257G>A						TNIP1_uc011dcn.1_5'UTR|TNIP1_uc010jhl.2_RNA|TNIP1_uc010jhm.2_Silent_p.F469F|TNIP1_uc010jhn.2_Silent_p.F469F|TNIP1_uc011dco.1_Silent_p.F469F|TNIP1_uc003lth.2_RNA|TNIP1_uc003lti.2_Silent_p.F469F|TNIP1_uc003ltg.2_Silent_p.F416F|TNIP1_uc003ltj.2_Silent_p.F469F|TNIP1_uc010jho.1_RNA|TNIP1_uc010jhq.1_Silent_p.F416F|TNIP1_uc010jhp.1_Silent_p.F416F|TNIP1_uc010jhr.1_Silent_p.F469F|TNIP1_uc003ltk.2_Silent_p.F469F	p.F469F	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		14	1996	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	469			Potential.		A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Silent	SNP	ENST00000389378.2	37	c.1407C>T	CCDS34280.1																																																																																				0.597	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		4	132	0	0	0	0	4	132				
SLC36A3	285641	broad.mit.edu	37	5	150664219	150664219	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:150664219C>T	ENST00000335230.3	-	7	1173	c.762G>A	c.(760-762)ttG>ttA	p.L254L	SLC36A3_ENST00000377713.3_Silent_p.L295L	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	254						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAAGAACAGCAAGAAGGTCT	0.493																																						uc003ltw.2		NA																	0				ovary(2)|skin(1)	3						c.(760-762)TTG>TTA		solute carrier family 36, member 3 isoform 2							128.0	113.0	118.0					5																	150664219		2203	4300	6503	SO:0001819	synonymous_variant	285641					integral to membrane		g.chr5:150664219C>T	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"""Solute carriers"""	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.762G>A	5.37:g.150664219C>T						GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Silent_p.L239L|SLC36A3_uc003ltx.2_Silent_p.L295L	p.L254L	NM_181774	NP_861439	Q495N2	S36A3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1181	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	254			Helical; (Potential).		Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Silent	SNP	ENST00000335230.3	37	c.762G>A	CCDS4314.1																																																																																				0.493	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774		30	109	0	0	0	0	30	109				
GALNT10	55568	broad.mit.edu	37	5	153755896	153755896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:153755896C>T	ENST00000297107.6	+	5	765	c.628C>T	c.(628-630)Cga>Tga	p.R210*	GALNT10_ENST00000425427.2_Nonsense_Mutation_p.R210*|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Intron|GALNT10_ENST00000519544.1_3'UTR	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	210	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R210*(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GAGGATTCTTCGAACCAAGAA	0.502																																						uc003lvh.2		NA																	1	Substitution - Nonsense(1)		upper_aerodigestive_tract(1)	skin(2)	2						c.(628-630)CGA>TGA		GalNAc transferase 10 isoform a							116.0	116.0	116.0					5																	153755896		2203	4300	6503	SO:0001587	stop_gained	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153755896C>T	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.628C>T	5.37:g.153755896C>T	ENSP00000297107:p.Arg210*					GALNT10_uc003lvg.1_Nonsense_Mutation_p.R210*|GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Intron	p.R210*	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		5	760	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	210			Catalytic subdomain A.|Lumenal (Potential).		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Nonsense_Mutation	SNP	ENST00000297107.6	37	c.628C>T	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	C	39	7.578467	0.98368	.	.	ENSG00000164574	ENST00000425427;ENST00000297107	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	210	.	ENSP00000297107:R210X	R	+	1	2	GALNT10	153736089	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.811000	0.62606	2.884000	0.98904	0.655000	0.94253	CGA		0.502	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		60	179	0	0	0	0	60	179				
SAP30L	79685	broad.mit.edu	37	5	153835558	153835558	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:153835558G>C	ENST00000297109.6	+	4	1170	c.522G>C	c.(520-522)caG>caC	p.Q174H	SAP30L_ENST00000440364.2_Missense_Mutation_p.Q133H|SAP30L_ENST00000426761.2_Missense_Mutation_p.Q128H	NM_024632.5	NP_078908.1	Q9HAJ7	SP30L_HUMAN	SAP30-like	174					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GACTGGACCAGAAATCGGAGG	0.438																																						uc003lvk.2		NA																	0					0						c.(520-522)CAG>CAC		SAP30-like isoform 1							148.0	133.0	138.0					5																	153835558		2203	4300	6503	SO:0001583	missense	79685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|metal ion binding	g.chr5:153835558G>C	AY341060	CCDS4326.1, CCDS47321.1, CCDS47322.1	5q33.2	2008-02-05			ENSG00000164576	ENSG00000164576			25663	protein-coding gene	gene with protein product		610398				14680513	Standard	NM_001131062		Approved	FLJ11526, NS4ATP2	uc003lvk.3	Q9HAJ7	OTTHUMG00000130146	ENST00000297109.6:c.522G>C	5.37:g.153835558G>C	ENSP00000297109:p.Gln174His					SAP30L_uc003lvm.3_RNA|SAP30L_uc011ddc.1_Missense_Mutation_p.Q133H|SAP30L_uc011ddd.1_Missense_Mutation_p.Q128H	p.Q174H	NM_024632	NP_078908	Q9HAJ7	SP30L_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		4	1170	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	174					E9PAU7|E9PAY2	Missense_Mutation	SNP	ENST00000297109.6	37	c.522G>C	CCDS4326.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911331	0.33721	.	.	ENSG00000164576	ENST00000297109;ENST00000440364;ENST00000426761	.	.	.	5.91	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.53916	0.1826	L	0.47716	1.5	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.51655	-0.8678	9	0.45353	T	0.12	-10.7849	10.7409	0.46152	0.0677:0.0:0.8009:0.1314	.	128;133;174	E9PAY2;E9PAU7;Q9HAJ7	.;.;SP30L_HUMAN	H	174;133;128	.	ENSP00000297109:Q174H	Q	+	3	2	SAP30L	153815751	1.000000	0.71417	1.000000	0.80357	0.401000	0.30781	5.398000	0.66308	1.516000	0.48900	0.655000	0.94253	CAG		0.438	SAP30L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252454.3	NM_024632		37	163	0	0	0	0	37	163				
TIMD4	91937	broad.mit.edu	37	5	156381666	156381666	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:156381666A>T	ENST00000274532.2	-	2	216	c.160T>A	c.(160-162)Tgg>Agg	p.W54R	TIMD4_ENST00000407087.3_Missense_Mutation_p.W54R	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	54	Ig-like V-type.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTTTCCCCCAGCACATGCTG	0.527																																						uc003lwh.2		NA																	0				ovary(2)	2						c.(160-162)TGG>AGG		T-cell immunoglobulin and mucin domain							89.0	88.0	88.0					5																	156381666		2203	4300	6503	SO:0001583	missense	91937					integral to membrane		g.chr5:156381666A>T	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.160T>A	5.37:g.156381666A>T	ENSP00000274532:p.Trp54Arg					TIMD4_uc010jii.2_Missense_Mutation_p.W54R	p.W54R	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	217	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	54			Ig-like V-type.|Extracellular (Potential).		B5MCL9	Missense_Mutation	SNP	ENST00000274532.2	37	c.160T>A	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	a	23.5	4.427637	0.83667	.	.	ENSG00000145850	ENST00000274532;ENST00000407087	D;D	0.94376	-3.41;-3.41	5.54	5.54	0.83059	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000078	D	0.97420	0.9156	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98419	1.0576	10	0.87932	D	0	-12.8662	15.3381	0.74273	1.0:0.0:0.0:0.0	.	54;54	B5MCL9;Q96H15	.;TIMD4_HUMAN	R	54	ENSP00000274532:W54R;ENSP00000385973:W54R	ENSP00000274532:W54R	W	-	1	0	TIMD4	156314244	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	4.277000	0.58939	2.111000	0.64477	0.533000	0.62120	TGG		0.527	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		35	85	0	0	0	0	35	85				
SOX30	11063	broad.mit.edu	37	5	157078561	157078561	+	Missense_Mutation	SNP	C	C	G	rs549735716		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:157078561C>G	ENST00000265007.6	-	1	867	c.526G>C	c.(526-528)Ggc>Cgc	p.G176R	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.G176R	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	176					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGGAAGTAGCCGAGGGCCGGC	0.677																																					Esophageal Squamous(31;525 799 19355 21125 41744)	uc003lxb.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(526-528)GGC>CGC		SRY (sex determining region Y)-box 30 isoform a							32.0	41.0	38.0					5																	157078561		2183	4257	6440	SO:0001583	missense	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157078561C>G	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.526G>C	5.37:g.157078561C>G	ENSP00000265007:p.Gly176Arg					SOX30_uc003lxc.1_Missense_Mutation_p.G176R|SOX30_uc011dds.1_Intron	p.G176R	NM_178424	NP_848511	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	868	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	176					O94995|Q8IYX6	Missense_Mutation	SNP	ENST00000265007.6	37	c.526G>C	CCDS4339.1	.	.	.	.	.	.	.	.	.	.	c	3.403	-0.121836	0.06838	.	.	ENSG00000039600	ENST00000311371;ENST00000265007	D;D	0.97665	-4.48;-4.13	4.76	2.99	0.34606	.	1.083310	0.07213	N	0.859488	D	0.91136	0.7209	N	0.08118	0	0.09310	N	0.99999	B;B	0.33940	0.433;0.199	B;B	0.32289	0.143;0.046	D	0.85163	0.0993	10	0.40728	T	0.16	.	6.6339	0.22872	0.0:0.7201:0.1815:0.0985	.	176;176	O94993-2;O94993	.;SOX30_HUMAN	R	176	ENSP00000309343:G176R;ENSP00000265007:G176R	ENSP00000265007:G176R	G	-	1	0	SOX30	157011139	0.001000	0.12720	0.007000	0.13788	0.005000	0.04900	0.116000	0.15561	0.450000	0.26774	-0.676000	0.03789	GGC		0.677	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		55	93	0	0	0	0	55	93				
TENM2	57451	broad.mit.edu	37	5	167627019	167627019	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:167627019G>T	ENST00000518659.1	+	17	3352	c.3313G>T	c.(3313-3315)Gtc>Ttc	p.V1105F	TENM2_ENST00000519204.1_Missense_Mutation_p.V984F|TENM2_ENST00000403607.2_Missense_Mutation_p.V929F|TENM2_ENST00000520394.1_Missense_Mutation_p.V873F|TENM2_ENST00000545108.1_Missense_Mutation_p.V1105F	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1105					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GATGGTGGCTGTCGAGGGGCA	0.537																																						uc010jjd.2		NA																	0				ovary(6)|central_nervous_system(4)	10						c.(3286-3288)GTC>TTC		odz, odd Oz/ten-m homolog 2							103.0	105.0	104.0					5																	167627019		1961	4160	6121	SO:0001583	missense	57451							g.chr5:167627019G>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3313G>T	5.37:g.167627019G>T	ENSP00000429430:p.Val1105Phe					ODZ2_uc003lzr.3_Missense_Mutation_p.V873F|ODZ2_uc003lzt.3_Missense_Mutation_p.V469F|ODZ2_uc010jje.2_Missense_Mutation_p.V367F	p.V1096F	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	17	3286	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.3286G>T		.	.	.	.	.	.	.	.	.	.	G	17.38	3.374522	0.61735	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.92699	-2.6;-2.6;-2.71;-3.04;-3.09	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.95698	0.8601	M	0.73319	2.225	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.78314	0.97;0.935;0.991	D	0.95948	0.8952	10	0.62326	D	0.03	.	18.4354	0.90643	0.0:0.0:1.0:0.0	.	1105;1105;873	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	F	1105;1105;984;873;929	ENSP00000429430:V1105F;ENSP00000438635:V1105F;ENSP00000428964:V984F;ENSP00000427874:V873F;ENSP00000384905:V929F	ENSP00000384905:V929F	V	+	1	0	ODZ2	167559597	1.000000	0.71417	0.140000	0.22221	0.405000	0.30901	9.869000	0.99810	2.338000	0.79540	0.561000	0.74099	GTC		0.537	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		18	64	1	0	1.03e-11	1.08e-11	18	64				
WWC1	23286	broad.mit.edu	37	5	167812224	167812224	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:167812224C>G	ENST00000265293.4	+	3	740	c.238C>G	c.(238-240)Cag>Gag	p.Q80E	WWC1_ENST00000521089.1_Missense_Mutation_p.Q80E	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	80	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AGAAACCACTCAGATTGAGGA	0.507																																						uc003lzu.2		NA																	0				ovary(2)|skin(2)|breast(1)	5						c.(238-240)CAG>GAG		WW and C2 domain containing 1 isoform 3							61.0	61.0	61.0					5																	167812224		2203	4300	6503	SO:0001583	missense	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167812224C>G	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.238C>G	5.37:g.167812224C>G	ENSP00000265293:p.Gln80Glu					WWC1_uc003lzv.2_Missense_Mutation_p.Q80E|WWC1_uc011den.1_Missense_Mutation_p.Q80E	p.Q80E	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	3	331	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	80			WW 2.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	c.238C>G	CCDS4366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.0|28.0	4.882235|4.882235	0.91740|0.91740	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089|ENST00000393895	D;D|.	0.87179|.	-2.22;-2.22|.	5.62|5.62	5.62|5.62	0.85841|0.85841	WW/Rsp5/WWP (5);|.	0.000000|.	0.64402|.	D|.	0.000004|.	D|.	0.86871|.	0.6037|.	M|M	0.92738|0.92738	3.34|3.34	0.80722|0.80722	D|D	1|1	D;P|.	0.60575|.	0.988;0.946|.	D;P|.	0.70716|.	0.97;0.863|.	D|.	0.89477|.	0.3747|.	10|.	0.72032|.	D|.	0.01|.	.|.	19.6523|19.6523	0.95822|0.95822	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	80;80|.	Q8IX03-2;Q8IX03|.	.;KIBRA_HUMAN|.	E|X	80|41	ENSP00000265293:Q80E;ENSP00000427772:Q80E|.	ENSP00000265293:Q80E|.	Q|S	+|+	1|2	0|0	WWC1|WWC1	167744802|167744802	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.960000|0.960000	0.62799|0.62799	7.592000|7.592000	0.82676|0.82676	2.650000|2.650000	0.89964|0.89964	0.561000|0.561000	0.74099|0.74099	CAG|TCA		0.507	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		19	40	0	0	0	0	19	40				
SPDL1	54908	broad.mit.edu	37	5	169020507	169020507	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:169020507G>C	ENST00000265295.4	+	4	765	c.486G>C	c.(484-486)gaG>gaC	p.E162D	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1									p.E162D(1)									TGTCTTCAGAGATGCTGGCTC	0.413																																						uc003mae.3		NA																	1	Substitution - Missense(1)		skin(1)	ovary(1)|liver(1)	2						c.(484-486)GAG>GAC		coiled-coil domain containing 99							114.0	111.0	112.0					5																	169020507		2203	4300	6503	SO:0001583	missense	54908				cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding	g.chr5:169020507G>C	BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.486G>C	5.37:g.169020507G>C	ENSP00000265295:p.Glu162Asp					CCDC99_uc010jjj.2_Missense_Mutation_p.E91D|CCDC99_uc011deq.1_Intron|CCDC99_uc010jjk.2_5'UTR	p.E162D	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	765	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	162			Potential.			Missense_Mutation	SNP	ENST00000265295.4	37	c.486G>C	CCDS4370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.63|12.63	1.994820|1.994820	0.35226|0.35226	.|.	.|.	ENSG00000040275|ENSG00000040275	ENST00000505977|ENST00000265295;ENST00000274631;ENST00000513941	.|T	.|0.46451	.|0.87	5.77|5.77	1.44|1.44	0.22558|0.22558	.|.	.|0.046223	.|0.85682	.|N	.|0.000000	T|T	0.28134|0.28134	0.0694|0.0694	L|L	0.39147|0.39147	1.195|1.195	0.44515|0.44515	D|D	0.997463|0.997463	.|B;B	.|0.25441	.|0.039;0.126	.|B;B	.|0.28232	.|0.023;0.087	T|T	0.05683|0.05683	-1.0870|-1.0870	5|10	.|0.36615	.|T	.|0.2	-15.6682|-15.6682	3.4858|3.4858	0.07619|0.07619	0.4495:0.2001:0.3504:0.0|0.4495:0.2001:0.3504:0.0	.|.	.|162;162	.|Q96EA4-2;Q96EA4	.|.;SPDLY_HUMAN	H|D	91|162	.|ENSP00000265295:E162D	.|ENSP00000265295:E162D	D|E	+|+	1|3	0|2	CCDC99|CCDC99	168953085|168953085	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.448000|0.448000	0.32197|0.32197	3.496000|3.496000	0.53288|0.53288	0.455000|0.455000	0.26910|0.26910	0.655000|0.655000	0.94253|0.94253	GAT|GAG		0.413	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785		26	108	0	0	0	0	26	108				
ADAMTS2	9509	broad.mit.edu	37	5	178771042	178771042	+	Missense_Mutation	SNP	C	C	T	rs150047440		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:178771042C>T	ENST00000251582.7	-	2	361	c.260G>A	c.(259-261)cGc>cAc	p.R87H	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.R87H	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	87					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGCGGCCCTGCGGGCTCGTAC	0.697																																						uc003mjw.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(259-261)CGC>CAC		ADAM metallopeptidase with thrombospondin type 1							16.0	21.0	20.0					5																	178771042		2167	4255	6422	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178771042C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.260G>A	5.37:g.178771042C>T	ENSP00000251582:p.Arg87His					ADAMTS2_uc011dgm.1_Missense_Mutation_p.R87H	p.R87H	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	2	260	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	87						Missense_Mutation	SNP	ENST00000251582.7	37	c.260G>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269925	0.80469	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	T;T	0.08282	3.11;3.11	5.04	5.04	0.67666	Peptidase M12B, propeptide (1);	0.000000	0.44688	D	0.000421	T	0.27594	0.0678	M	0.79475	2.455	0.49483	D	0.999799	D;D	0.89917	1.0;1.0	D;D	0.73380	0.966;0.98	T	0.00770	-1.1573	10	0.45353	T	0.12	.	12.4828	0.55854	0.1671:0.8329:0.0:0.0	.	87;87	O95450-2;O95450	.;ATS2_HUMAN	H	87	ENSP00000251582:R87H;ENSP00000274609:R87H	ENSP00000251582:R87H	R	-	2	0	ADAMTS2	178703648	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	3.674000	0.54598	2.344000	0.79699	0.462000	0.41574	CGC		0.697	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		18	39	0	0	0	0	18	39				
MAPK9	5601	broad.mit.edu	37	5	179696288	179696288	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:179696288G>A	ENST00000452135.2	-	3	542	c.244C>T	c.(244-246)Cat>Tat	p.H82Y	MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000425491.2_Missense_Mutation_p.H82Y|MAPK9_ENST00000343111.6_Missense_Mutation_p.H82Y|MAPK9_ENST00000455781.1_Missense_Mutation_p.H82Y|MAPK9_ENST00000347470.4_Missense_Mutation_p.H82Y|MAPK9_ENST00000539014.1_Missense_Mutation_p.H82Y|MAPK9_ENST00000393360.3_Missense_Mutation_p.H82Y			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	82	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|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)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|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)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACATTTTTATGATTGACACAT	0.363																																						uc003mls.3		NA																	0				central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4						c.(244-246)CAT>TAT		mitogen-activated protein kinase 9 isoform JNK2							112.0	105.0	107.0					5																	179696288		2203	4300	6503	SO:0001583	missense	5601				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding	g.chr5:179696288G>A	U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.244C>T	5.37:g.179696288G>A	ENSP00000394560:p.His82Tyr					MAPK9_uc003mlt.3_Missense_Mutation_p.H82Y|MAPK9_uc010jlc.2_Missense_Mutation_p.H82Y|MAPK9_uc003mlv.3_Missense_Mutation_p.H82Y|MAPK9_uc011dgx.1_Missense_Mutation_p.H82Y	p.H82Y	NM_002752	NP_002743	P45984	MK09_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	515	-	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	82			Protein kinase.		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	ENST00000452135.2	37	c.244C>T	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665526	0.88251	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470;ENST00000425491;ENST00000539014;ENST00000523583	T;T;T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.67	5.67	0.87782	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92724	0.7687	H	0.97077	3.935	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.997;0.997;0.997;1.0	D	0.94628	0.7819	9	.	.	.	-29.5295	19.7686	0.96352	0.0:0.0:1.0:0.0	.	82;82;82;82;82	P45984-5;P45984-4;P45984-3;P45984-2;P45984	.;.;.;.;MK09_HUMAN	Y	82	ENSP00000394560:H82Y;ENSP00000377028:H82Y;ENSP00000389338:H82Y;ENSP00000345524:H82Y;ENSP00000321410:H82Y;ENSP00000397422:H82Y;ENSP00000443149:H82Y;ENSP00000430608:H82Y	.	H	-	1	0	MAPK9	179628894	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	9.731000	0.98807	2.665000	0.90641	0.591000	0.81541	CAT		0.363	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3			6	124	0	0	0	0	6	124				
BTNL8	79908	broad.mit.edu	37	5	180338384	180338384	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:180338384G>C	ENST00000340184.4	+	3	649	c.443G>C	c.(442-444)aGa>aCa	p.R148T	BTNL8_ENST00000505126.1_5'UTR|BTNL8_ENST00000508408.1_Missense_Mutation_p.R148T|BTNL8_ENST00000400707.3_Missense_Mutation_p.R23T|BTNL8_ENST00000511704.1_Missense_Mutation_p.R32T|Y_RNA_ENST00000410920.1_RNA|BTNL8_ENST00000231229.4_Missense_Mutation_p.R148T|BTNL8_ENST00000533815.2_5'UTR	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	148	Ig-like V-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TATGTTGATAGAGACATCCAG	0.537																																						uc003mmp.2		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(442-444)AGA>ACA		butyrophilin-like 8 isoform 2 precursor							233.0	254.0	247.0					5																	180338384		2203	4296	6499	SO:0001583	missense	79908					integral to membrane		g.chr5:180338384G>C	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.443G>C	5.37:g.180338384G>C	ENSP00000342197:p.Arg148Thr					BTNL8_uc003mmq.2_Missense_Mutation_p.R148T|BTNL8_uc011dhg.1_Missense_Mutation_p.R23T|BTNL8_uc010jll.2_Missense_Mutation_p.R148T|BTNL8_uc010jlm.2_Missense_Mutation_p.R32T|BTNL8_uc011dhh.1_5'UTR	p.R148T	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	677	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	148			Ig-like V-type 2.|Extracellular (Potential).		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.443G>C	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	G	9.934	1.215515	0.22373	.	.	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000400707;ENST00000508408;ENST00000511704	T;T;T;T;T	0.06371	3.31;3.31;3.31;3.31;3.31	3.86	2.98	0.34508	Immunoglobulin-like fold (1);	.	.	.	.	T	0.04952	0.0133	N	0.22421	0.69	0.20703	N	0.999863	B;B;B;B;B	0.22851	0.076;0.063;0.012;0.022;0.012	B;B;B;B;B	0.20767	0.009;0.031;0.013;0.013;0.009	T	0.37753	-0.9692	9	0.46703	T	0.11	.	7.6816	0.28518	0.1236:0.0:0.8764:0.0	.	23;32;148;148;148	E9PG07;E9PEF6;F2Z2B2;A6NEX6;Q6UX41	.;.;.;.;BTNL8_HUMAN	T	148;148;23;148;32	ENSP00000231229:R148T;ENSP00000342197:R148T;ENSP00000383543:R23T;ENSP00000424585:R148T;ENSP00000425207:R32T	ENSP00000231229:R148T	R	+	2	0	BTNL8	180270990	0.290000	0.24343	0.001000	0.08648	0.009000	0.06853	2.446000	0.44908	0.761000	0.33130	0.205000	0.17691	AGA		0.537	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		144	412	0	0	0	0	144	412				
BTNL8	79908	broad.mit.edu	37	5	180377003	180377003	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr5:180377003C>G	ENST00000340184.4	+	8	1168	c.962C>G	c.(961-963)tCt>tGt	p.S321C	BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000505126.1_Missense_Mutation_p.S114C|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000533815.2_Missense_Mutation_p.S137C|BTNL8_ENST00000400707.3_Missense_Mutation_p.S196C|BTNL8_ENST00000511704.1_Missense_Mutation_p.S205C	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	321	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGCCTCACTCTGAGAAGAGA	0.517																																						uc003mmp.2		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(961-963)TCT>TGT		butyrophilin-like 8 isoform 2 precursor							56.0	57.0	57.0					5																	180377003		2128	3928	6056	SO:0001583	missense	79908					integral to membrane		g.chr5:180377003C>G	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.962C>G	5.37:g.180377003C>G	ENSP00000342197:p.Ser321Cys					BTNL8_uc003mmq.2_3'UTR|BTNL8_uc011dhg.1_Missense_Mutation_p.S196C|BTNL8_uc010jll.2_3'UTR|BTNL8_uc010jlm.2_Missense_Mutation_p.S205C|BTNL8_uc011dhh.1_Missense_Mutation_p.S137C	p.S321C	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1196	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	321			B30.2/SPRY.|Cytoplasmic (Potential).		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.962C>G	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554200	0.27739	.	.	ENSG00000113303	ENST00000340184;ENST00000400707;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	1.77	0.81	0.18732	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.19725	0.0474	L	0.45137	1.4	0.09310	N	1	B;D;D	0.76494	0.45;0.991;0.999	B;P;D	0.65684	0.176;0.907;0.937	T	0.10268	-1.0637	9	0.59425	D	0.04	.	7.6271	0.28218	0.0:0.7324:0.2675:0.0	.	196;205;321	E9PG07;E9PEF6;Q6UX41	.;.;BTNL8_HUMAN	C	321;196;205;114;137	ENSP00000342197:S321C;ENSP00000383543:S196C;ENSP00000425207:S205C;ENSP00000427441:S114C;ENSP00000435098:S137C	ENSP00000342197:S321C	S	+	2	0	BTNL8	180309609	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.495000	0.06443	0.070000	0.16634	0.430000	0.28490	TCT		0.517	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		35	92	0	0	0	0	35	92				
JARID2	3720	broad.mit.edu	37	6	15496939	15496939	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:15496939G>C	ENST00000341776.2	+	7	1727	c.1483G>C	c.(1483-1485)Gag>Cag	p.E495Q	JARID2_ENST00000397311.3_Missense_Mutation_p.E323Q|JARID2_ENST00000541660.1_Missense_Mutation_p.E457Q	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	495					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GCGCAGTCTGGAGAGGAATCG	0.662																																						uc003nbj.2		NA																	0				ovary(2)|lung(1)|pancreas(1)	4						c.(1483-1485)GAG>CAG		jumonji, AT rich interactive domain 2 protein							31.0	38.0	35.0					6																	15496939		2201	4299	6500	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15496939G>C	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1483G>C	6.37:g.15496939G>C	ENSP00000341280:p.Glu495Gln					JARID2_uc011diu.1_Missense_Mutation_p.E359Q|JARID2_uc011div.1_Missense_Mutation_p.E323Q|JARID2_uc011diw.1_Missense_Mutation_p.E457Q	p.E495Q	NM_004973	NP_004964	Q92833	JARD2_HUMAN			7	1727	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	495					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.1483G>C	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710001	0.68730	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	D;D;D	0.89617	-1.89;-1.88;-2.54	5.4	5.4	0.78164	.	0.121631	0.53938	D	0.000048	D	0.87974	0.6313	L	0.29908	0.895	0.38284	D	0.942508	D;D;D	0.76494	0.998;0.999;0.979	D;D;P	0.65684	0.937;0.915;0.702	D	0.85316	0.1081	10	0.20519	T	0.43	-15.6864	19.166	0.93557	0.0:0.0:1.0:0.0	.	457;359;495	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	Q	359;495;323;457	ENSP00000341280:E495Q;ENSP00000380478:E323Q;ENSP00000444623:E457Q	ENSP00000341280:E495Q	E	+	1	0	JARID2	15604918	1.000000	0.71417	0.922000	0.36590	0.899000	0.52679	5.834000	0.69361	2.523000	0.85059	0.561000	0.74099	GAG		0.662	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		26	26	0	0	0	0	26	26				
HIST1H2AC	8334	broad.mit.edu	37	6	26124521	26124521	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:26124521C>T	ENST00000602637.1	+	1	91	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.R21C|HIST1H2BC_ENST00000396984.1_5'Flank|HIST1H2BC_ENST00000314332.5_5'Flank			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	21						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						CCGCTCTTCTCGCGCTGGTCT	0.612																																						uc003ngm.2		NA																	0					0						c.(61-63)CGC>TGC		histone cluster 1, H2ac							52.0	52.0	52.0					6																	26124521		2203	4300	6503	SO:0001583	missense	8334				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26124521C>T	Z80778	CCDS4585.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000180573	ENSG00000180573		"""Histones / Replication-dependent"""	4733	protein-coding gene	gene with protein product		602794	"""H2A histone family, member L"", ""histone 1, H2ac"""	H2AFL		9119399, 12408966	Standard	NM_003512		Approved		uc003ngm.3	Q93077	OTTHUMG00000014428	ENST00000602637.1:c.61C>T	6.37:g.26124521C>T	ENSP00000473534:p.Arg21Cys					HIST1H2BC_uc003ngk.3_5'Flank|HIST1H2BC_uc003ngl.2_5'Flank|HIST1H2AC_uc003ngn.2_RNA|HIST1H2AC_uc003ngo.2_RNA|HIST1H2AC_uc003ngp.2_Missense_Mutation_p.R21C	p.R21C	NM_003512	NP_003503	Q93077	H2A1C_HUMAN			1	149	+			21					B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Missense_Mutation	SNP	ENST00000602637.1	37	c.61C>T	CCDS4585.1	.	.	.	.	.	.	.	.	.	.	.	14.23	2.472206	0.43942	.	.	ENSG00000180573	ENST00000377791;ENST00000314088	T;T	0.52295	0.67;0.67	5.78	3.93	0.45458	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.43579	D	0.000549	T	0.72930	0.3522	H	0.97340	3.985	0.50313	D	0.999869	D	0.76494	0.999	D	0.68483	0.958	D	0.83567	0.0110	10	0.87932	D	0	.	14.2805	0.66208	0.2717:0.7283:0.0:0.0	.	21	Q93077	H2A1C_HUMAN	C	21	ENSP00000367022:R21C;ENSP00000321389:R21C	ENSP00000321389:R21C	R	+	1	0	HIST1H2AC	26232500	0.956000	0.32656	0.085000	0.20634	0.027000	0.11550	2.185000	0.42584	0.837000	0.34925	0.591000	0.81541	CGC		0.612	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468023.1	NM_003512		29	20	0	0	0	0	29	20				
BTN2A2	10385	broad.mit.edu	37	6	26385375	26385375	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:26385375C>T	ENST00000356709.4	+	3	338	c.227C>T	c.(226-228)tCc>tTc	p.S76F	BTN2A2_ENST00000416795.2_Missense_Mutation_p.S76F|BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000352867.2_Intron|BTN2A2_ENST00000469230.1_Missense_Mutation_p.S76F|BTN2A2_ENST00000432533.2_Missense_Mutation_p.S76F	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	76	Ig-like V-type.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TCTCAGTTCTCCCCCGCAGTG	0.527																																						uc003nhq.2		NA																	0					0						c.(226-228)TCC>TTC		butyrophilin, subfamily 2, member A2 isoform a							145.0	123.0	131.0					6																	26385375		2203	4300	6503	SO:0001583	missense	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26385375C>T	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.227C>T	6.37:g.26385375C>T	ENSP00000349143:p.Ser76Phe					BTN2A2_uc011dkf.1_Intron|BTN2A2_uc011dkg.1_Missense_Mutation_p.S76F|BTN2A2_uc003nhr.2_Intron|BTN2A2_uc011dkh.1_Intron|BTN2A2_uc003nhs.2_Missense_Mutation_p.S76F|BTN2A2_uc003nht.2_Missense_Mutation_p.S76F	p.S76F	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN			3	313	+			76			Extracellular (Potential).|Ig-like V-type.		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	c.227C>T	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	c	8.838	0.941536	0.18281	.	.	ENSG00000124508	ENST00000469230;ENST00000356709;ENST00000493275;ENST00000432533;ENST00000416795;ENST00000494184	T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;4.17	3.75	1.9	0.25705	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.129140	0.36066	N	0.002811	T	0.43853	0.1266	L	0.55990	1.75	0.25955	N	0.982702	B;B;B	0.26400	0.029;0.148;0.098	B;B;B	0.37387	0.017;0.222;0.248	T	0.43589	-0.9382	10	0.39692	T	0.17	.	6.7342	0.23401	0.0:0.7547:0.0:0.2453	.	76;76;76	B4DQ01;Q8WVV5-2;Q8WVV5	.;.;BT2A2_HUMAN	F	76	ENSP00000417472:S76F;ENSP00000349143:S76F;ENSP00000418857:S76F;ENSP00000394241:S76F;ENSP00000399308:S76F;ENSP00000417511:S76F	ENSP00000349143:S76F	S	+	2	0	BTN2A2	26493354	0.000000	0.05858	0.906000	0.35671	0.398000	0.30690	-0.173000	0.09854	0.553000	0.29044	0.449000	0.29647	TCC		0.527	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			31	40	0	0	0	0	31	40				
ZSCAN16	80345	broad.mit.edu	37	6	28097416	28097416	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:28097416C>T	ENST00000340487.4	+	4	884	c.735C>T	c.(733-735)ttC>ttT	p.F245F	ZSCAN16-AS1_ENST00000602810.1_RNA|ZSCAN16-AS1_ENST00000600652.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	245					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGAAAAGTTTCAGTCATAGCT	0.418																																						uc003nkm.2		NA																	0				large_intestine(1)	1						c.(733-735)TTC>TTT		zinc finger and SCAN domain containing 16							118.0	127.0	124.0					6																	28097416		2203	4300	6503	SO:0001819	synonymous_variant	80345				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28097416C>T	AK025844	CCDS4644.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000196812	ENSG00000196812		"""-"", ""Zinc fingers, C2H2-type"""	20813	protein-coding gene	gene with protein product			"""zinc finger protein 392"", ""zinc finger protein 435"""	ZNF392, ZNF435			Standard	NM_025231		Approved	FLJ22191, dJ265C24.3	uc003nkm.3	Q9H4T2	OTTHUMG00000014509	ENST00000340487.4:c.735C>T	6.37:g.28097416C>T						uc010jqw.1_Intron|uc003nkk.1_Intron|uc003nkl.1_Intron	p.F245F	NM_025231	NP_079507	Q9H4T2	ZSC16_HUMAN			4	835	+			245			C2H2-type 1.		Q9H6K2	Silent	SNP	ENST00000340487.4	37	c.735C>T	CCDS4644.1																																																																																				0.418	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040177.1	NM_025231		44	52	0	0	0	0	44	52				
ZSCAN31	64288	broad.mit.edu	37	6	28297298	28297298	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:28297298C>T	ENST00000414429.1	-	6	1066	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	ZSCAN31_ENST00000344279.6_Missense_Mutation_p.E55K|ZSCAN31_ENST00000446474.1_Intron|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.E55K|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.E55K|ZSCAN31_ENST00000481934.1_5'Flank			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	55	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CTCAGAGCTTCTCGGGGACCA	0.522																																						uc003nla.2		NA																	0				ovary(1)|skin(1)	2						c.(163-165)GAA>AAA		zinc finger protein 323							114.0	128.0	123.0					6																	28297298		2203	4300	6503	SO:0001583	missense	64288				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28297298C>T		CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"""-"", ""Zinc fingers, C2H2-type"""	14097	protein-coding gene	gene with protein product		610794	"""zinc finger protein 310 pseudogene"", ""zinc finger protein 323"""	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.163G>A	6.37:g.28297298C>T	ENSP00000390076:p.Glu55Lys					ZNF323_uc003nld.2_Missense_Mutation_p.E55K|ZNF323_uc010jra.2_Missense_Mutation_p.E55K|ZNF323_uc003nlb.2_Intron|ZNF323_uc010jrb.2_Intron|ZNF323_uc003nlc.2_Missense_Mutation_p.E55K	p.E55K	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN			2	563	-			55			SCAN box.		Q6P178|Q8WWS5	Missense_Mutation	SNP	ENST00000414429.1	37	c.163G>A	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057091	0.76074	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000344279;ENST00000453745;ENST00000439636;ENST00000447021;ENST00000426756;ENST00000446222;ENST00000434036	T;T;T;T;T;T;T;T;T;T	0.08634	3.07;3.07;3.07;3.07;3.07;3.07;3.07;3.07;3.07;3.07	4.71	3.84	0.44239	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.13157	0.0319	M	0.90977	3.165	0.25279	N	0.98945	P	0.41366	0.747	P	0.47470	0.548	T	0.05007	-1.0912	9	0.56958	D	0.05	.	11.7401	0.51788	0.0:0.9113:0.0:0.0887	.	55	Q96LW9	ZN323_HUMAN	K	55	ENSP00000380050:E55K;ENSP00000413705:E55K;ENSP00000390076:E55K;ENSP00000345339:E55K;ENSP00000389479:E55K;ENSP00000412519:E55K;ENSP00000416108:E55K;ENSP00000406376:E55K;ENSP00000411033:E55K;ENSP00000416225:E55K	ENSP00000345339:E55K	E	-	1	0	ZNF323	28405277	0.546000	0.26457	0.064000	0.19789	0.991000	0.79684	1.847000	0.39299	1.095000	0.41419	0.563000	0.77884	GAA		0.522	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		126	195	0	0	0	0	126	195				
ZBED9	114821	broad.mit.edu	37	6	28541483	28541483	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:28541483C>G	ENST00000452236.2	-	4	2800	c.2183G>C	c.(2182-2184)aGa>aCa	p.R728T	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						agcatgaactcttttggtttt	0.323																																						uc003nlo.2		NA																	0				ovary(1)	1						c.(2182-2184)AGA>ACA		SCAN domain containing 3							79.0	73.0	75.0					6																	28541483		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28541483C>G																												ENST00000452236.2:c.2183G>C	6.37:g.28541483C>G	ENSP00000395259:p.Arg728Thr						p.R728T	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			4	2801	-			728						Missense_Mutation	SNP	ENST00000452236.2	37	c.2183G>C	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	7.329	0.618626	0.14129	.	.	ENSG00000232040	ENST00000452236	T	0.01438	4.89	2.14	1.24	0.21308	.	.	.	.	.	T	0.00496	0.0016	L	0.29908	0.895	0.24394	N	0.994738	B	0.22414	0.069	B	0.24974	0.057	T	0.46693	-0.9173	9	0.72032	D	0.01	.	5.0435	0.14471	0.0:0.8213:0.0:0.1787	.	728	Q6R2W3	SCND3_HUMAN	T	728	ENSP00000395259:R728T	ENSP00000395259:R728T	R	-	2	0	SCAND3	28649462	0.989000	0.36119	0.642000	0.29436	0.852000	0.48524	0.254000	0.18314	0.444000	0.26612	0.563000	0.77884	AGA		0.323	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			28	30	0	0	0	0	28	30				
OR2J3	442186	broad.mit.edu	37	6	29080281	29080281	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:29080281C>G	ENST00000377169.1	+	1	614	c.614C>G	c.(613-615)aCa>aGa	p.T205R		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CTCATGATCACAAGCTCCATA	0.468																																						uc011dll.1		NA																	0					0						c.(613-615)ACA>AGA		olfactory receptor, family 2, subfamily J,							101.0	113.0	109.0					6																	29080281		1324	2595	3919	SO:0001583	missense	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29080281C>G		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.614C>G	6.37:g.29080281C>G	ENSP00000366374:p.Thr205Arg						p.T205R	NM_001005216	NP_001005216	O76001	OR2J3_HUMAN			1	614	+			205			Helical; Name=5; (Potential).		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	c.614C>G	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	C	0.050	-1.253144	0.01457	.	.	ENSG00000204701	ENST00000377169	T	0.00123	8.7	2.78	-1.36	0.09085	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	L	0.48362	1.52	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.28427	-1.0044	9	0.62326	D	0.03	.	4.112	0.10063	0.1629:0.3802:0.0:0.4569	.	205	O76001	OR2J3_HUMAN	R	205	ENSP00000366374:T205R	ENSP00000366374:T205R	T	+	2	0	OR2J3	29188260	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-4.362000	0.00246	-0.219000	0.10003	-0.436000	0.05848	ACA		0.468	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			60	38	0	0	0	0	60	38				
HLA-B	3106	broad.mit.edu	37	6	31324214	31324214	+	Missense_Mutation	SNP	G	G	C	rs281864614		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:31324214G>C	ENST00000412585.2	-	3	377	c.349C>G	c.(349-351)Cac>Gac	p.H117D		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	117	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TGGAGGGTGTGAGACCCTGGC	0.697									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													uc003nth.2		NA																	0					0						c.(349-351)CAC>GAC		major histocompatibility complex, class I, B							12.0	12.0	12.0					6																	31324214		1875	3987	5862	SO:0001583	missense	3106	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of	Familial Cancer Database	;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:31324214G>C	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.349C>G	6.37:g.31324214G>C	ENSP00000399168:p.His117Asp					HLA-C_uc003ntb.2_5'Flank|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_5'Flank|HLA-B_uc011dnk.1_5'Flank|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_5'UTR|HLA-B_uc003nti.1_5'Flank|HLA-B_uc010jsn.1_5'Flank|HLA-B_uc010jso.2_Missense_Mutation_p.H89D	p.H117D	NM_005514	NP_005505	P01889	1B07_HUMAN			3	403	-			117			Extracellular (Potential).|Alpha-2.		Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	c.349C>G	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	15.11	2.737352	0.49045	.	.	ENSG00000234745	ENST00000412585;ENST00000434333	T;T	0.00036	8.86;8.86	3.18	3.18	0.36537	MHC class I, alpha chain, alpha1/alpha2 (4);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	0.000000	0.38164	U	0.001798	T	0.00580	0.0019	H	0.99956	5.05	0.27401	N	0.954841	D;D	0.76494	0.999;0.999	D;D	0.97110	0.998;1.0	T	0.38564	-0.9655	10	0.87932	D	0	.	12.2269	0.54465	0.0:0.0:1.0:0.0	.	117;117	P30480;P01889	1B42_HUMAN;1B07_HUMAN	D	117;128	ENSP00000399168:H117D;ENSP00000405931:H128D	ENSP00000399168:H117D	H	-	1	0	HLA-B	31432193	1.000000	0.71417	0.969000	0.41365	0.014000	0.08584	6.421000	0.73353	1.801000	0.52704	0.297000	0.19635	CAC		0.697	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		7	17	0	0	0	0	7	17				
HSPA1B	3304	broad.mit.edu	37	6	31797593	31797593	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:31797593C>T	ENST00000375650.3	+	1	2082	c.1866C>T	c.(1864-1866)ttC>ttT	p.F622F	HSPA1B_ENST00000545241.1_Silent_p.F531F	NM_005346.4	NP_005337.2	P08107	HSP71_HUMAN	heat shock 70kDa protein 1B	622					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)			breast(1)|large_intestine(1)|prostate(1)	3						CTGGCGGCTTCGGGGCTCAGG	0.587																																						uc003nxk.2		NA																	0				breast(1)	1						c.(1864-1866)TTC>TTT		heat shock 70kDa protein 1B							58.0	69.0	65.0					6																	31797593		1683	3268	4951	SO:0001819	synonymous_variant	3304				anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding	g.chr6:31797593C>T		CCDS34415.1	6p21.3	2011-09-02	2002-08-29		ENSG00000204388	ENSG00000204388		"""Heat shock proteins / HSP70"""	5233	protein-coding gene	gene with protein product		603012	"""heat shock 70kD protein 1B"""			1700760	Standard	NM_005346		Approved	HSP70-2	uc003nxk.2	P08107	OTTHUMG00000031202	ENST00000375650.3:c.1866C>T	6.37:g.31797593C>T							p.F622F	NM_005346	NP_005337	P08107	HSP71_HUMAN			1	2082	+			622					B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Silent	SNP	ENST00000375650.3	37	c.1866C>T	CCDS34415.1																																																																																				0.587	HSPA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076402.2			94	89	0	0	0	0	94	89				
SKIV2L	6499	broad.mit.edu	37	6	31933627	31933627	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:31933627C>G	ENST00000375394.2	+	18	2152	c.2039C>G	c.(2038-2040)tCc>tGc	p.S680C	SKIV2L_ENST00000544581.1_Missense_Mutation_p.S487C	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	680	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GTGTTTGACTCCATGCGCAAA	0.587																																						uc003nyn.1		NA																	0				ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(2038-2040)TCC>TGC		superkiller viralicidic activity 2-like homolog							136.0	103.0	115.0					6																	31933627		1511	2709	4220	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31933627C>G		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.2039C>G	6.37:g.31933627C>G	ENSP00000364543:p.Ser680Cys					SKIV2L_uc011dou.1_Missense_Mutation_p.S522C|SKIV2L_uc011dov.1_Missense_Mutation_p.S487C	p.S680C	NM_006929	NP_008860	Q15477	SKIV2_HUMAN			18	2428	+			680			Helicase C-terminal.		O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.2039C>G	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812639	0.70912	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.75589	-0.95;-0.95	5.48	5.48	0.80851	Helicase, C-terminal (3);	0.159670	0.56097	D	0.000031	D	0.88466	0.6444	M	0.92833	3.35	0.54753	D	0.999984	D	0.89917	1.0	D	0.81914	0.995	D	0.90821	0.4709	10	0.87932	D	0	-20.8422	18.126	0.89586	0.0:1.0:0.0:0.0	.	680	Q15477	SKIV2_HUMAN	C	680;522;487	ENSP00000364543:S680C;ENSP00000442645:S487C	ENSP00000364543:S680C	S	+	2	0	SKIV2L	32041606	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.313000	0.65798	2.581000	0.87130	0.655000	0.94253	TCC		0.587	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			58	50	0	0	0	0	58	50				
HLA-DOA	3111	broad.mit.edu	37	6	32975985	32975985	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:32975985C>G	ENST00000229829.5	-	2	211	c.136G>C	c.(136-138)Ggc>Cgc	p.G46R	HLA-DOA_ENST00000495532.1_5'Flank|HLA-DOA_ENST00000450833.2_Missense_Mutation_p.G16R	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	46	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GTGAACTGGCCCGAGGCGCCG	0.547																																						uc003ocr.2		NA																	0					0						c.(136-138)GGC>CGC		major histocompatibility complex, class II, DO							52.0	47.0	49.0					6																	32975985		1511	2709	4220	SO:0001583	missense	3111				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32975985C>G	M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.136G>C	6.37:g.32975985C>G	ENSP00000229829:p.Gly46Arg					HLA-DOA_uc010juj.2_Missense_Mutation_p.G16R|HLA-DOA_uc010jui.2_Missense_Mutation_p.G46R	p.G46R	NM_002119	NP_002110	P06340	DOA_HUMAN			2	212	-			46			Extracellular (Potential).|Alpha-1.		Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Missense_Mutation	SNP	ENST00000229829.5	37	c.136G>C	CCDS4763.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040792	0.75732	.	.	ENSG00000204252	ENST00000229829;ENST00000450833	T;T	0.01034	5.42;5.42	4.4	4.4	0.53042	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	0.126186	0.53938	D	0.000047	T	0.04588	0.0125	H	0.94734	3.575	0.30916	N	0.728501	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.961	T	0.01323	-1.1385	10	0.87932	D	0	.	12.7312	0.57199	0.0:1.0:0.0:0.0	.	16;46	B4DW77;P06340	.;DOA_HUMAN	R	46;16	ENSP00000229829:G46R;ENSP00000403896:G16R	ENSP00000229829:G46R	G	-	1	0	HLA-DOA	33083963	.	.	0.906000	0.35671	0.787000	0.44495	.	.	2.447000	0.82792	0.650000	0.86243	GGC		0.547	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2	NM_002119		38	30	0	0	0	0	38	30				
COL11A2	1302	broad.mit.edu	37	6	33135224	33135224	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:33135224C>G	ENST00000374708.4	-	54	4101	c.3843G>C	c.(3841-3843)ctG>ctC	p.L1281L	COL11A2_ENST00000361917.1_Silent_p.L1260L|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000341947.2_Silent_p.L1367L|COL11A2_ENST00000395197.1_Silent_p.L1307L|COL11A2_ENST00000357486.1_Silent_p.L1346L|COL11A2_ENST00000374712.1_Silent_p.L1286L|COL11A2_ENST00000374714.1_Silent_p.L1341L|COL11A2_ENST00000374713.1_Silent_p.L1320L	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1367	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGAGCCCCCTCAGACCATCAG	0.667																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1		NA																	0				ovary(3)|skin(2)	5						c.(4099-4101)CTG>CTC		collagen, type XI, alpha 2 isoform 1							31.0	30.0	31.0					6																	33135224		1508	2709	4217	SO:0001819	synonymous_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33135224C>G	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.3843G>C	6.37:g.33135224C>G						COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.L1281L|COL11A2_uc003ocz.1_Silent_p.L1260L	p.L1367L	NM_080680	NP_542411	P13942	COBA2_HUMAN			56	4329	-			1367			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP	ENST00000374708.4	37	c.4101G>C	CCDS43452.1																																																																																				0.667	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			30	32	0	0	0	0	30	32				
B3GALT4	8705	broad.mit.edu	37	6	33245746	33245746	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:33245746G>C	ENST00000451237.1	+	1	830	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	184					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						CAACGTCCCTGAACTGGTATC	0.587																																						uc003odr.2		NA																	0				ovary(1)|breast(1)	2						c.(550-552)GAA>CAA		UDP-Gal:betaGlcNAc beta							68.0	73.0	72.0					6																	33245746		2203	4300	6503	SO:0001583	missense	8705				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr6:33245746G>C	Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"""Beta 3-glycosyltransferases"""	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.550G>C	6.37:g.33245746G>C	ENSP00000390784:p.Glu184Gln						p.E184Q	NM_003782	NP_003773	O96024	B3GT4_HUMAN			1	830	+			184			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000451237.1	37	c.550G>C	CCDS34425.1	.	.	.	.	.	.	.	.	.	.	G	9.018	0.984144	0.18889	.	.	ENSG00000235863	ENST00000451237	T	0.44881	0.91	4.7	4.7	0.59300	.	0.537536	0.17053	N	0.188841	T	0.35335	0.0928	L	0.27053	0.805	0.31090	N	0.710932	D	0.71674	0.998	D	0.66351	0.943	T	0.10590	-1.0623	10	0.34782	T	0.22	.	13.0149	0.58751	0.0:0.0:1.0:0.0	.	184	O96024	B3GT4_HUMAN	Q	184	ENSP00000390784:E184Q	ENSP00000390784:E184Q	E	+	1	0	B3GALT4	33353724	0.584000	0.26766	0.859000	0.33776	0.365000	0.29674	0.923000	0.28757	2.444000	0.82710	0.643000	0.83706	GAA		0.587	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2			93	82	0	0	0	0	93	82				
ITPR3	3710	broad.mit.edu	37	6	33662853	33662853	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:33662853C>G	ENST00000374316.5	+	58	8998	c.7938C>G	c.(7936-7938)ctC>ctG	p.L2646L	ITPR3_ENST00000605930.1_Silent_p.L2646L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2646					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TCAACGAGCTCAAGGAGCAGG	0.612																																						uc011drk.1		NA																	0				ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						c.(7936-7938)CTC>CTG		inositol 1,4,5-triphosphate receptor, type 3							78.0	55.0	63.0					6																	33662853		2203	4300	6503	SO:0001819	synonymous_variant	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33662853C>G	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.7938C>G	6.37:g.33662853C>G						C6orf125_uc003oez.1_RNA	p.L2646L	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			57	8157	+			2646			Cytoplasmic (Potential).		Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.7938C>G	CCDS4783.1																																																																																				0.612	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		19	31	0	0	0	0	19	31				
GRM4	2914	broad.mit.edu	37	6	33995958	33995958	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:33995958C>T	ENST00000538487.2	-	10	3071	c.2628G>A	c.(2626-2628)aaG>aaA	p.K876K	GRM4_ENST00000455714.2_Silent_p.K736K|GRM4_ENST00000374177.3_Silent_p.K760K|GRM4_ENST00000544773.2_Silent_p.K707K|GRM4_ENST00000535756.1_Silent_p.K743K|GRM4_ENST00000374181.4_Silent_p.K876K|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000609222.1_Silent_p.K743K	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	876					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGAAGTTGCCCTTCTGCGTGA	0.637																																						uc003oir.3		NA																	0				lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6						c.(2626-2628)AAG>AAA		glutamate receptor, metabotropic 4 precursor	L-Glutamic Acid(DB00142)						73.0	64.0	67.0					6																	33995958		2203	4300	6503	SO:0001819	synonymous_variant	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:33995958C>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2628G>A	6.37:g.33995958C>T						GRM4_uc011dsn.1_Silent_p.K829K|GRM4_uc010jvh.2_Silent_p.K876K|GRM4_uc010jvi.2_Silent_p.K568K|GRM4_uc003oio.2_Silent_p.K568K|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.K736K|GRM4_uc003oiq.2_Silent_p.K743K|GRM4_uc011dsm.1_Silent_p.K707K	p.K876K	NM_000841	NP_000832	Q14833	GRM4_HUMAN			9	2798	-			876			Cytoplasmic (Potential).		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	c.2628G>A	CCDS4787.1																																																																																				0.637	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			31	27	0	0	0	0	31	27				
PACSIN1	29993	broad.mit.edu	37	6	34499414	34499414	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:34499414G>A	ENST00000538621.1	+	9	1320	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	PACSIN1_ENST00000374043.2_Missense_Mutation_p.E317K|PACSIN1_ENST00000244458.2_Missense_Mutation_p.E359K	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	359					actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CTACGCCACCGAGTGGTCAGA	0.647																																						uc003ojo.2		NA																	0					0						c.(1075-1077)GAG>AAG		protein kinase C and casein kinase substrate in							87.0	90.0	89.0					6																	34499414		2202	4300	6502	SO:0001583	missense	29993				endocytosis		protein kinase activity	g.chr6:34499414G>A	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.1075G>A	6.37:g.34499414G>A	ENSP00000439639:p.Glu359Lys					PACSIN1_uc003ojp.2_Missense_Mutation_p.E359K	p.E359K	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN			9	1281	+			359					Q9P2G8	Missense_Mutation	SNP	ENST00000538621.1	37	c.1075G>A	CCDS4793.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696151	0.88830	.	.	ENSG00000124507	ENST00000244458;ENST00000374043;ENST00000436831;ENST00000538621	T;T;T	0.28454	1.61;1.61;1.61	4.83	4.83	0.62350	.	0.053065	0.85682	D	0.000000	T	0.16514	0.0397	M	0.68317	2.08	0.80722	D	1	P	0.37997	0.614	B	0.25614	0.062	T	0.06144	-1.0843	10	0.19147	T	0.46	-14.8926	17.7009	0.88294	0.0:0.0:1.0:0.0	.	359	Q9BY11	PACN1_HUMAN	K	359;317;359;359	ENSP00000244458:E359K;ENSP00000363155:E317K;ENSP00000439639:E359K	ENSP00000244458:E359K	E	+	1	0	PACSIN1	34607392	1.000000	0.71417	0.963000	0.40424	0.916000	0.54674	9.255000	0.95524	2.523000	0.85059	0.561000	0.74099	GAG		0.647	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1			5	187	0	0	0	0	5	187				
KIF6	221458	broad.mit.edu	37	6	39554121	39554121	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:39554121C>G	ENST00000287152.7	-	8	1000	c.906G>C	c.(904-906)atG>atC	p.M302I	KIF6_ENST00000373216.3_Missense_Mutation_p.M302I|KIF6_ENST00000373215.3_Missense_Mutation_p.M302I|KIF6_ENST00000538893.1_Missense_Mutation_p.M302I|KIF6_ENST00000373213.4_Missense_Mutation_p.M141I	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	302	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGACACTGGTCATCATGGAGT	0.413																																						uc003oot.2		NA																	0				breast(2)|central_nervous_system(1)	3						c.(904-906)ATG>ATC		kinesin family member 6							181.0	168.0	173.0					6																	39554121		2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39554121C>G	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.906G>C	6.37:g.39554121C>G	ENSP00000287152:p.Met302Ile					KIF6_uc010jxa.1_Missense_Mutation_p.M93I|KIF6_uc011dua.1_Missense_Mutation_p.M302I|KIF6_uc010jxb.1_Missense_Mutation_p.M302I	p.M302I	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN			8	1001	-			302					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.906G>C	CCDS4844.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.82|17.82	3.482183|3.482183	0.63962|0.63962	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893;ENST00000441975;ENST00000373211|ENST00000458470	T;T;T;T;T;T|.	0.71817|.	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Kinesin, motor domain (4);|.	.|.	.|.	.|.	.|.	T|.	0.60248|.	0.2254|.	L|L	0.45051|0.45051	1.395|1.395	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.63046|.	0.982;0.983;0.959;0.992|.	P;P;P;D|.	0.63033|.	0.853;0.885;0.835;0.91|.	T|.	0.55903|.	-0.8067|.	9|.	0.87932|.	D|.	0|.	.|.	19.1336|19.1336	0.93417|0.93417	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	302;302;302;302|.	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9|.	.;.;.;KIF6_HUMAN|.	I|S	302;302;141;302;302;89;93|194	ENSP00000287152:M302I;ENSP00000362312:M302I;ENSP00000362309:M141I;ENSP00000362311:M302I;ENSP00000441435:M302I;ENSP00000404856:M89I|.	ENSP00000287152:M302I|.	M|X	-|-	3|2	0|2	KIF6|KIF6	39662099|39662099	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.411000|4.411000	0.59781|0.59781	2.628000|2.628000	0.89032|0.89032	0.585000|0.585000	0.79938|0.79938	ATG|TGA		0.413	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		4	194	0	0	0	0	4	194				
USP49	25862	broad.mit.edu	37	6	41767599	41767599	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:41767599G>A	ENST00000394253.3	-	5	1968	c.1639C>T	c.(1639-1641)Cag>Tag	p.Q547*	USP49_ENST00000373006.1_Nonsense_Mutation_p.Q547*|USP49_ENST00000373009.3_Nonsense_Mutation_p.Q547*|USP49_ENST00000373010.1_Nonsense_Mutation_p.Q547*|USP49_ENST00000297229.2_Nonsense_Mutation_p.Q547*			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	547	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGGAGAACCTGAGGTAGTCTG	0.488																																						uc003ori.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1639-1641)CAG>TAG		ubiquitin thioesterase 49							199.0	183.0	189.0					6																	41767599		2203	4300	6503	SO:0001587	stop_gained	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41767599G>A	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.1639C>T	6.37:g.41767599G>A	ENSP00000377797:p.Gln547*						p.Q547*	NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		6	1861	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		547					Q5T3D9|Q5T3E0|Q96CK4	Nonsense_Mutation	SNP	ENST00000394253.3	37	c.1639C>T		.	.	.	.	.	.	.	.	.	.	G	40	8.203607	0.98704	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	.	.	.	5.67	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-19.9166	16.1698	0.81801	0.0:0.1338:0.8662:0.0	.	.	.	.	X	547	.	ENSP00000297229:Q547X	Q	-	1	0	USP49	41875577	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	1.376000	0.46267	0.655000	0.94253	CAG		0.488	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		6	425	0	0	0	0	6	425				
UBR2	23304	broad.mit.edu	37	6	42626426	42626426	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:42626426G>C	ENST00000372899.1	+	29	3364	c.3106G>C	c.(3106-3108)Gag>Cag	p.E1036Q	UBR2_ENST00000372901.1_Missense_Mutation_p.E1036Q|UBR2_ENST00000372883.3_Missense_Mutation_p.Q543H	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1036					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GAGAAAAGCAGAGATTGCCAG	0.388																																						uc011dur.1		NA																	0				ovary(3)|pancreas(1)	4						c.(3106-3108)GAG>CAG		ubiquitin protein ligase E3 component n-recognin							86.0	86.0	86.0					6																	42626426		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42626426G>C	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.3106G>C	6.37:g.42626426G>C	ENSP00000361990:p.Glu1036Gln					UBR2_uc011dus.1_Missense_Mutation_p.E681Q|UBR2_uc003osh.2_RNA	p.E1036Q	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		29	3106	+	Colorectal(47;0.196)		1036			Potential.		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.3106G>C	CCDS4870.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.172160|5.172160	0.94807|0.94807	.|.	.|.	ENSG00000024048|ENSG00000024048	ENST00000372899;ENST00000372901|ENST00000372883	T;T|T	0.61627|0.56941	0.09;0.09|0.43	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67487|0.67487	0.2898|0.2898	M|M	0.77820|0.77820	2.39|2.39	0.41646|0.41646	D|D	0.989109|0.989109	D;P|.	0.89917|.	1.0;0.938|.	D;P|.	0.91635|.	0.999;0.695|.	T|T	0.69355|0.69355	-0.5167|-0.5167	10|7	0.23891|0.56958	T|D	0.37|0.05	-29.2793|-29.2793	19.7043|19.7043	0.96067|0.96067	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1036;1036|.	Q8IWV8-4;Q8IWV8|.	.;UBR2_HUMAN|.	Q|H	1036|543	ENSP00000361990:E1036Q;ENSP00000361992:E1036Q|ENSP00000361974:Q543H	ENSP00000361990:E1036Q|ENSP00000361974:Q543H	E|Q	+|+	1|3	0|2	UBR2|UBR2	42734404|42734404	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.966000|0.966000	0.64601|0.64601	9.864000|9.864000	0.99589|0.99589	2.635000|2.635000	0.89317|0.89317	0.563000|0.563000	0.77884|0.77884	GAG|CAG		0.388	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		37	83	0	0	0	0	37	83				
UBR2	23304	broad.mit.edu	37	6	42626464	42626464	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:42626464G>C	ENST00000372899.1	+	29	3402	c.3144G>C	c.(3142-3144)caG>caC	p.Q1048H	UBR2_ENST00000372901.1_Missense_Mutation_p.Q1048H|UBR2_ENST00000372883.3_Missense_Mutation_p.R556T	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1048					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TCATGGCTCAGATGTCTGAAA	0.423																																						uc011dur.1		NA																	0				ovary(3)|pancreas(1)	4						c.(3142-3144)CAG>CAC		ubiquitin protein ligase E3 component n-recognin							97.0	97.0	97.0					6																	42626464		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42626464G>C	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.3144G>C	6.37:g.42626464G>C	ENSP00000361990:p.Gln1048His					UBR2_uc011dus.1_Missense_Mutation_p.Q693H|UBR2_uc003osh.2_RNA	p.Q1048H	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		29	3144	+	Colorectal(47;0.196)		1048			Potential.		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.3144G>C	CCDS4870.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.137198|4.137198	0.77775|0.77775	.|.	.|.	ENSG00000024048|ENSG00000024048	ENST00000372899;ENST00000372901|ENST00000372883	T;T|T	0.63580|0.58506	-0.05;-0.05|0.33	5.64|5.64	4.59|4.59	0.56863|0.56863	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65811|0.65811	0.2727|0.2727	M|M	0.82716|0.82716	2.605|2.605	0.27528|0.27528	N|N	0.951173|0.951173	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.61471|0.61471	-0.7056|-0.7056	10|7	0.72032|0.87932	D|D	0.01|0	-19.4729|-19.4729	15.4582|15.4582	0.75333|0.75333	0.0777:0.0:0.9223:0.0|0.0777:0.0:0.9223:0.0	.|.	1048;1048|.	Q8IWV8-4;Q8IWV8|.	.;UBR2_HUMAN|.	H|T	1048|556	ENSP00000361990:Q1048H;ENSP00000361992:Q1048H|ENSP00000361974:R556T	ENSP00000361990:Q1048H|ENSP00000361974:R556T	Q|R	+|+	3|2	2|0	UBR2|UBR2	42734442|42734442	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.520000|3.520000	0.53465|0.53465	2.635000|2.635000	0.89317|0.89317	0.563000|0.563000	0.77884|0.77884	CAG|AGA		0.423	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		61	102	0	0	0	0	61	102				
CUL7	9820	broad.mit.edu	37	6	43015985	43015985	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:43015985C>T	ENST00000265348.3	-	9	2155	c.2070G>A	c.(2068-2070)ctG>ctA	p.L690L	CUL7_ENST00000535468.1_Silent_p.L774L|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	690					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCAGCTGCTTCAGGATTCTGG	0.617																																						uc003otq.2		NA																	0				ovary(3)|kidney(1)	4						c.(2068-2070)CTG>CTA		cullin 7							71.0	73.0	73.0					6																	43015985		2203	4300	6503	SO:0001819	synonymous_variant	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43015985C>T	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.2070G>A	6.37:g.43015985C>T						CUL7_uc010jyg.2_5'Flank|CUL7_uc011dvb.1_Silent_p.L774L|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	p.L690L	NM_014780	NP_055595	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		9	2373	-			690					B4DYZ0|F5H0L1|Q5T654	Silent	SNP	ENST00000265348.3	37	c.2070G>A	CCDS4881.1																																																																																				0.617	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		47	187	0	0	0	0	47	187				
SLC22A7	10864	broad.mit.edu	37	6	43266316	43266316	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:43266316G>T	ENST00000372585.5	+	1	315	c.220G>T	c.(220-222)Gat>Tat	p.D74Y	SLC22A7_ENST00000372589.3_Missense_Mutation_p.D74Y|SLC22A7_ENST00000372574.3_Missense_Mutation_p.D74Y|SLC22A7_ENST00000487175.1_Intron	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	74					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CCGGGAGCCTGATGGCACGCT	0.662																																						uc003out.2		NA																	0					0						c.(220-222)GAT>TAT		solute carrier family 22 member 7 isoform b							45.0	43.0	44.0					6																	43266316		2203	4300	6503	SO:0001583	missense	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43266316G>T	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.220G>T	6.37:g.43266316G>T	ENSP00000361666:p.Asp74Tyr					SLC22A7_uc010jyl.1_Missense_Mutation_p.D74Y|SLC22A7_uc003ous.2_Missense_Mutation_p.D74Y	p.D74Y	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		1	319	+			74					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.220G>T	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425464	0.62733	.	.	ENSG00000137204	ENST00000449231;ENST00000372589;ENST00000372585;ENST00000372574	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.63	3.85	0.44370	.	0.269175	0.40818	N	0.001020	T	0.63733	0.2536	M	0.83953	2.67	0.42978	D	0.994452	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.78314	0.98;0.991;0.985	T	0.69281	-0.5186	10	0.72032	D	0.01	.	10.3416	0.43882	0.1616:0.0:0.8384:0.0	.	74;74;74	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	Y	74	ENSP00000411818:D74Y;ENSP00000361670:D74Y;ENSP00000361666:D74Y;ENSP00000361655:D74Y	ENSP00000361655:D74Y	D	+	1	0	SLC22A7	43374294	1.000000	0.71417	0.538000	0.28064	0.670000	0.39368	3.317000	0.51968	0.733000	0.32492	0.563000	0.77884	GAT		0.662	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			34	64	1	0	1.27e-14	1.34e-14	34	64				
SPATS1	221409	broad.mit.edu	37	6	44329585	44329585	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:44329585G>A	ENST00000288390.2	+	4	777	c.430G>A	c.(430-432)Gag>Aag	p.E144K	RP11-444E17.6_ENST00000505802.1_3'UTR|SPATS1_ENST00000323108.8_Missense_Mutation_p.E144K			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	144										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCATCGTCCTGAGTGGACATT	0.473																																						uc003oxk.2		NA																	0				skin(1)	1						c.(430-432)GAG>AAG		spermatogenesis associated, serine-rich 1							209.0	187.0	194.0					6																	44329585		2203	4300	6503	SO:0001583	missense	221409							g.chr6:44329585G>A	AK058171	CCDS4911.1	6p21.1	2003-08-08			ENSG00000249481	ENSG00000249481			22957	protein-coding gene	gene with protein product							Standard	NM_145026		Approved	SPATA8, FLJ25442, SRSP1	uc021yzz.1	Q496A3	OTTHUMG00000014764	ENST00000288390.2:c.430G>A	6.37:g.44329585G>A	ENSP00000424400:p.Glu144Lys					SPATS1_uc003oxg.2_RNA|SPATS1_uc010jzb.2_Missense_Mutation_p.E29K	p.E144K	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	777	+	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		144					Q496A2|Q496A5|Q96LJ0	Missense_Mutation	SNP	ENST00000288390.2	37	c.430G>A	CCDS4911.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781005	0.90282	.	.	ENSG00000249481	ENST00000323108;ENST00000288390	T;T	0.68624	-0.34;-0.34	5.8	5.8	0.92144	.	0.000000	0.56097	D	0.000024	T	0.77691	0.4168	M	0.70275	2.135	0.41213	D	0.986456	D	0.89917	1.0	D	0.85130	0.997	T	0.79699	-0.1694	10	0.87932	D	0	.	15.5707	0.76333	0.0:0.0:1.0:0.0	.	144	Q496A3	SPAS1_HUMAN	K	144	ENSP00000437552:E144K;ENSP00000424400:E144K	ENSP00000424400:E144K	E	+	1	0	SPATS1	44437563	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	4.999000	0.63934	2.744000	0.94065	0.655000	0.94253	GAG		0.473	SPATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040738.2	NM_145026		43	175	0	0	0	0	43	175				
TDRD6	221400	broad.mit.edu	37	6	46657053	46657053	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:46657053G>A	ENST00000316081.6	+	1	1188	c.1188G>A	c.(1186-1188)ctG>ctA	p.L396L	RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Silent_p.L396L|RP11-446F17.3_ENST00000571590.1_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	396					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCGGTGACCTGAAGACACTGA	0.478																																						uc003oyj.2		NA																	0				breast(3)|ovary(2)|skin(1)	6						c.(1186-1188)CTG>CTA		tudor domain containing 6							111.0	100.0	104.0					6																	46657053		2203	4300	6503	SO:0001819	synonymous_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46657053G>A	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1188G>A	6.37:g.46657053G>A						TDRD6_uc010jze.2_Silent_p.L390L	p.L396L	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	1188	+			396					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	c.1188G>A	CCDS34470.1																																																																																				0.478	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		66	107	0	0	0	0	66	107				
TFAP2B	7021	broad.mit.edu	37	6	50807940	50807940	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:50807940G>C	ENST00000393655.3	+	6	1181	c.1012G>C	c.(1012-1014)Gag>Cag	p.E338Q	TFAP2B_ENST00000263046.4_Missense_Mutation_p.E347Q	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	338					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AGCCGTCTCTGAGTATTTGAA	0.478																																					Pancreas(116;1373 2332 5475 10752)	uc003pag.2		NA																	0					0						c.(1012-1014)GAG>CAG		transcription factor AP-2 beta							119.0	124.0	122.0					6																	50807940		2203	4300	6503	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50807940G>C	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1012G>C	6.37:g.50807940G>C	ENSP00000377265:p.Glu338Gln						p.E338Q	NM_003221	NP_003212	Q92481	AP2B_HUMAN			6	1178	+	Lung NSC(77;0.156)		338					Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.1012G>C	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944444	0.92593	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.96885	-4.16;-4.16	5.67	5.67	0.87782	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96750	0.8939	M	0.71581	2.175	0.80722	D	1	P	0.52170	0.951	P	0.52758	0.708	D	0.96127	0.9089	10	0.49607	T	0.09	-17.1305	19.7769	0.96398	0.0:0.0:1.0:0.0	.	338	Q92481	AP2B_HUMAN	Q	338;347	ENSP00000377265:E338Q;ENSP00000263046:E347Q	ENSP00000263046:E347Q	E	+	1	0	TFAP2B	50915899	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.692000	0.91855	0.655000	0.94253	GAG		0.478	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		98	174	0	0	0	0	98	174				
PKHD1	5314	broad.mit.edu	37	6	51938280	51938280	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:51938280C>T	ENST00000371117.3	-	7	783	c.508G>A	c.(508-510)Gat>Aat	p.D170N	PKHD1_ENST00000340994.4_Missense_Mutation_p.D170N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	170	IPT/TIG 2.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TACTCAGCATCAAAATCAAAA	0.358																																						uc003pah.1		NA																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(508-510)GAT>AAT		fibrocystin isoform 1							217.0	209.0	212.0					6																	51938280		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51938280C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.508G>A	6.37:g.51938280C>T	ENSP00000360158:p.Asp170Asn					PKHD1_uc003pai.2_Missense_Mutation_p.D170N	p.D170N	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			7	784	-	Lung NSC(77;0.0605)		170			IPT/TIG 2.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.508G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	9.342	1.063296	0.20067	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87650	-2.07;-2.28	5.82	4.95	0.65309	.	0.158162	0.44688	N	0.000430	T	0.61375	0.2342	L	0.35414	1.06	0.23636	N	0.997234	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.45600	-0.9250	10	0.11182	T	0.66	.	8.5874	0.33666	0.0:0.8206:0.0:0.1794	.	170;170	P08F94-2;P08F94	.;PKHD1_HUMAN	N	170	ENSP00000360158:D170N;ENSP00000341097:D170N	ENSP00000341097:D170N	D	-	1	0	PKHD1	52046239	0.997000	0.39634	0.992000	0.48379	0.939000	0.58152	1.096000	0.30976	1.475000	0.48197	0.650000	0.86243	GAT		0.358	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		83	144	0	0	0	0	83	144				
MCM3	4172	broad.mit.edu	37	6	52133882	52133882	+	Splice_Site	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:52133882A>G	ENST00000229854.7	-	13	2045		c.e13+1		MCM3_ENST00000419835.2_Splice_Site|MCM3_ENST00000596288.1_Splice_Site			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3						DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CTGAATCCTCACCTTCTTAAA	0.532																																						uc003pan.1		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.e13+1		minichromosome maintenance complex component 3							113.0	112.0	112.0					6																	52133882		2203	4300	6503	SO:0001630	splice_region_variant	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52133882A>G	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.1968+1T>C	6.37:g.52133882A>G						MCM3_uc011dwu.1_Splice_Site_p.K610_splice	p.K656_splice	NM_002388	NP_002379	P25205	MCM3_HUMAN			13	2078	-	Lung NSC(77;0.0931)							B4DWW4|Q92660|Q9BTR3|Q9NUE7	Splice_Site	SNP	ENST00000229854.7	37	c.1968_splice		.	.	.	.	.	.	.	.	.	.	A	23.0	4.365859	0.82463	.	.	ENSG00000112118	ENST00000229854;ENST00000340349;ENST00000419835;ENST00000421471	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3439	0.74320	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCM3	52241841	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.739000	0.91574	2.203000	0.70933	0.459000	0.35465	.		0.532	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1		Intron	62	140	0	0	0	0	62	140				
BMP5	653	broad.mit.edu	37	6	55638959	55638959	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:55638959G>C	ENST00000370830.3	-	4	1613	c.915C>G	c.(913-915)ttC>ttG	p.F305L	BMP5_ENST00000446683.2_Missense_Mutation_p.F305L	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	305					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CACTCGCCTTGAAGAAGGCCA	0.453																																						uc003pcq.2		NA																	0				ovary(2)	2						c.(913-915)TTC>TTG		bone morphogenetic protein 5 preproprotein							216.0	188.0	198.0					6																	55638959		2203	4300	6503	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55638959G>C		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.915C>G	6.37:g.55638959G>C	ENSP00000359866:p.Phe305Leu					BMP5_uc011dxf.1_Missense_Mutation_p.F305L	p.F305L	NM_021073	NP_066551	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		4	1627	-	Lung NSC(77;0.0462)		305					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.915C>G	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497706	0.85069	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.72835	-0.69;-0.35	5.74	3.95	0.45737	.	0.000000	0.85682	D	0.000000	T	0.59293	0.2183	L	0.34521	1.04	0.58432	D	0.999998	P;P	0.50617	0.928;0.937	P;P	0.53518	0.728;0.606	T	0.64846	-0.6311	10	0.56958	D	0.05	.	10.8925	0.47004	0.2026:0.0:0.7974:0.0	.	305;305	B4E0Y4;P22003	.;BMP5_HUMAN	L	305	ENSP00000359866:F305L;ENSP00000391818:F305L	ENSP00000359866:F305L	F	-	3	2	BMP5	55746918	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.753000	0.47524	1.426000	0.47256	0.655000	0.94253	TTC		0.453	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			126	221	0	0	0	0	126	221				
COL12A1	1303	broad.mit.edu	37	6	75833986	75833986	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:75833986G>C	ENST00000322507.8	-	41	7018	c.6709C>G	c.(6709-6711)Cta>Gta	p.L2237V	COL12A1_ENST00000416123.2_Missense_Mutation_p.L2237V|COL12A1_ENST00000345356.6_Missense_Mutation_p.L1073V|COL12A1_ENST00000483888.2_Missense_Mutation_p.L2237V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2237	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GCAGGGCTTAGTTTTAGCCTG	0.378																																						uc003phs.2		NA																	0				ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(6709-6711)CTA>GTA		collagen, type XII, alpha 1 long isoform							62.0	60.0	61.0					6																	75833986		1843	4102	5945	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75833986G>C	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.6709C>G	6.37:g.75833986G>C	ENSP00000325146:p.Leu2237Val					COL12A1_uc003pht.2_Missense_Mutation_p.L1073V	p.L2237V	NM_004370	NP_004361	Q99715	COCA1_HUMAN			41	6875	-			2237			Fibronectin type-III 18.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.6709C>G	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252986	0.39797	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.37	3.55	0.40652	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.090728	0.45867	D	0.000335	T	0.24967	0.0606	L	0.28192	0.835	0.36184	D	0.849622	P;P	0.40476	0.67;0.718	B;B	0.39771	0.205;0.309	T	0.07770	-1.0755	10	0.36615	T	0.2	.	12.5461	0.56201	0.1428:0.0:0.8572:0.0	.	1073;2237	Q99715-2;Q99715	.;COCA1_HUMAN	V	2237;2237;1073;2237;2237	ENSP00000325146:L2237V;ENSP00000305147:L1073V;ENSP00000412864:L2237V;ENSP00000421216:L2237V	ENSP00000325146:L2237V	L	-	1	2	COL12A1	75890706	1.000000	0.71417	0.993000	0.49108	0.965000	0.64279	1.715000	0.37971	1.401000	0.46761	0.460000	0.39030	CTA		0.378	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		4	116	0	0	0	0	4	116				
LCA5	167691	broad.mit.edu	37	6	80196747	80196747	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:80196747C>T	ENST00000392959.1	-	9	2679	c.2068G>A	c.(2068-2070)Gaa>Aaa	p.E690K	LCA5_ENST00000369846.4_Missense_Mutation_p.E690K	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	690					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TCTTCAATTTCATCTTCTACA	0.303																																						uc003pix.2		NA																	0					0						c.(2068-2070)GAA>AAA		Leber congenital amaurosis 5							45.0	50.0	48.0					6																	80196747		2203	4300	6503	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80196747C>T		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.2068G>A	6.37:g.80196747C>T	ENSP00000376686:p.Glu690Lys					LCA5_uc003piy.2_Missense_Mutation_p.E690K	p.E690K	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	8	2503	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	690					E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.2068G>A	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337231	0.81911	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.39592	1.07;1.07	5.57	5.57	0.84162	.	0.187479	0.45361	D	0.000368	T	0.47060	0.1425	L	0.50333	1.59	0.35357	D	0.787851	D	0.63046	0.992	P	0.57101	0.813	T	0.51164	-0.8740	10	0.72032	D	0.01	-8.5083	18.5368	0.91013	0.0:1.0:0.0:0.0	.	690	Q86VQ0	LCA5_HUMAN	K	690	ENSP00000358861:E690K;ENSP00000376686:E690K	ENSP00000358861:E690K	E	-	1	0	LCA5	80253466	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	5.677000	0.68142	2.609000	0.88269	0.591000	0.81541	GAA		0.303	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		53	59	0	0	0	0	53	59				
DOPEY1	23033	broad.mit.edu	37	6	83848789	83848789	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:83848789G>C	ENST00000349129.2	+	21	5288	c.5028G>C	c.(5026-5028)caG>caC	p.Q1676H	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.Q1657H|DOPEY1_ENST00000369739.3_Missense_Mutation_p.Q1667H	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1676					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAGTTCTGCAGAGAGTGGTTG	0.403																																						uc003pjs.1		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(5026-5028)CAG>CAC		dopey family member 1							96.0	89.0	91.0					6																	83848789		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83848789G>C	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.5028G>C	6.37:g.83848789G>C	ENSP00000195654:p.Gln1676His					DOPEY1_uc011dyy.1_Missense_Mutation_p.Q1667H|DOPEY1_uc010kbl.1_Missense_Mutation_p.Q1667H|DOPEY1_uc003pjt.2_RNA	p.Q1676H	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	21	5288	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1676					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.5028G>C	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411908	0.25465	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.42513	0.97;0.97	6.06	4.27	0.50696	.	0.165248	0.56097	D	0.000034	T	0.23210	0.0561	N	0.22421	0.69	0.80722	D	1	D;P;P	0.63880	0.993;0.93;0.93	P;P;P	0.57548	0.823;0.459;0.459	T	0.04509	-1.0946	10	0.15499	T	0.54	.	8.6456	0.34003	0.2835:0.0:0.7164:0.0	.	1567;1667;1676	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	H	1676;1657;1657	ENSP00000195654:Q1676H;ENSP00000237163:Q1657H	ENSP00000237163:Q1657H	Q	+	3	2	DOPEY1	83905508	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	2.072000	0.41510	0.879000	0.35944	0.655000	0.94253	CAG		0.403	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		3	124	0	0	0	0	3	124				
GPR63	81491	broad.mit.edu	37	6	97246864	97246864	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:97246864G>C	ENST00000229955.3	-	2	1089	c.744C>G	c.(742-744)ctC>ctG	p.L248L	GPR63_ENST00000417980.1_Silent_p.L248L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AGAAAGAAATGAGAGAAATCA	0.473																																						uc010kcl.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(742-744)CTC>CTG		G protein-coupled receptor 63							84.0	89.0	87.0					6																	97246864		2203	4300	6503	SO:0001819	synonymous_variant	81491					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97246864G>C	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.744C>G	6.37:g.97246864G>C						GPR63_uc003pou.2_Silent_p.L248L	p.L248L	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	3	1222	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	248			Helical; Name=5; (Potential).		Q9UJH3	Silent	SNP	ENST00000229955.3	37	c.744C>G	CCDS5036.1																																																																																				0.473	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			72	81	0	0	0	0	72	81				
POU3F2	5454	broad.mit.edu	37	6	99282855	99282855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:99282855G>T	ENST00000328345.5	+	1	276	c.106G>T	c.(106-108)Gaa>Taa	p.E36*		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	36					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E36Q(1)		endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GGGCTACCGCGAAGCGCAGAG	0.711																																						uc003ppe.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(106-108)GAA>TAA		POU domain, class 3, transcription factor 2							13.0	15.0	14.0					6																	99282855		2108	4151	6259	SO:0001587	stop_gained	5454				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:99282855G>T	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.106G>T	6.37:g.99282855G>T	ENSP00000329170:p.Glu36*						p.E36*	NM_005604	NP_005595	P20265	PO3F2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0355)	1	276	+		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	36					Q14960|Q86V54|Q9UJL0	Nonsense_Mutation	SNP	ENST00000328345.5	37	c.106G>T	CCDS5040.1	.	.	.	.	.	.	.	.	.	.	g	16.46	3.129431	0.56721	.	.	ENSG00000184486	ENST00000328345;ENST00000425116	.	.	.	3.06	2.19	0.27852	.	2.756020	0.02457	U	0.086210	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	10.2965	0.43627	0.0:0.0:0.8003:0.1997	.	.	.	.	X	36	.	ENSP00000329170:E36X	E	+	1	0	POU3F2	99389576	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	4.951000	0.63610	0.473000	0.27368	-0.677000	0.03784	GAA		0.711	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			7	24	1	0	4.93e-13	5.21e-13	7	24				
LAMA4	3910	broad.mit.edu	37	6	112508744	112508744	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:112508744C>T	ENST00000230538.7	-	8	1271	c.874G>A	c.(874-876)Gag>Aag	p.E292K	LAMA4_ENST00000522006.1_Missense_Mutation_p.E285K|LAMA4_ENST00000424408.2_Missense_Mutation_p.E285K|LAMA4_ENST00000389463.4_Missense_Mutation_p.E285K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	292	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTGCCTTCCTCGATGGAGAGC	0.537																																						uc003pvu.2		NA																	0				ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(874-876)GAG>AAG		laminin, alpha 4 isoform 1 precursor							93.0	77.0	82.0					6																	112508744		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112508744C>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.874G>A	6.37:g.112508744C>T	ENSP00000230538:p.Glu292Lys					LAMA4_uc003pvv.2_Missense_Mutation_p.E285K|LAMA4_uc003pvt.2_Missense_Mutation_p.E285K	p.E292K	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	8	1183	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	292			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.874G>A	CCDS43491.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.23|13.23	2.174361|2.174361	0.38413|0.38413	.|.	.|.	ENSG00000112769|ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588|ENST00000521732	T;T;T;T;T|.	0.27104|.	2.58;2.62;2.62;2.62;1.69|.	5.9|5.9	5.04|5.04	0.67666|0.67666	.|.	0.047221|.	0.85682|.	D|.	0.000000|.	T|T	0.48502|0.48502	0.1503|0.1503	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	B;B|.	0.32829|.	0.386;0.165|.	B;B|.	0.28784|.	0.094;0.057|.	T|T	0.47947|0.47947	-0.9077|-0.9077	10|5	0.11794|.	T|.	0.64|.	.|.	15.3829|15.3829	0.74673|0.74673	0.0:0.9334:0.0:0.0666|0.0:0.9334:0.0:0.0666	.|.	292;285|.	Q16363;Q16363-2|.	LAMA4_HUMAN;.|.	K|Q	292;285;285;285;292;292;285|104	ENSP00000230538:E292K;ENSP00000429488:E285K;ENSP00000374114:E285K;ENSP00000416470:E285K;ENSP00000430336:E292K|.	ENSP00000230538:E292K|.	E|R	-|-	1|2	0|0	LAMA4|LAMA4	112615437|112615437	0.980000|0.980000	0.34600|0.34600	0.936000|0.936000	0.37596|0.37596	0.050000|0.050000	0.14768|0.14768	2.553000|2.553000	0.45837|0.45837	1.526000|1.526000	0.49068|0.49068	-0.123000|-0.123000	0.14984|0.14984	GAG|CGA		0.537	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		10	35	0	0	0	0	10	35				
COL10A1	1300	broad.mit.edu	37	6	116442593	116442593	+	Missense_Mutation	SNP	C	C	G	rs202057046		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:116442593C>G	ENST00000327673.4	-	2	1093	c.686G>C	c.(685-687)gGa>gCa	p.G229A	COL10A1_ENST00000243222.4_Missense_Mutation_p.G229A|NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_Intron			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	229	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GCCTGGCTGTCCTGGAACCCC	0.607																																						uc003pwm.2		NA																	0				central_nervous_system(1)	1						c.(685-687)GGA>GCA		type X collagen alpha 1 precursor							61.0	64.0	63.0					6																	116442593		2203	4300	6503	SO:0001583	missense	1300				skeletal system development	collagen	metal ion binding	g.chr6:116442593C>G		CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"""Collagens"""	2185	protein-coding gene	gene with protein product	"""Schmid metaphyseal chondrodysplasia"""	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.686G>C	6.37:g.116442593C>G	ENSP00000327368:p.Gly229Ala					NT5DC1_uc003pwj.2_Intron|NT5DC1_uc003pwk.2_Intron|NT5DC1_uc003pwl.2_Intron	p.G229A	NM_000493	NP_000484	Q03692	COAA1_HUMAN		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)	3	782	-		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)	229			Triple-helical region.		A1L4P2	Missense_Mutation	SNP	ENST00000327673.4	37	c.686G>C	CCDS5105.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737951	0.69304	.	.	ENSG00000123500	ENST00000243222;ENST00000327673	D;D	0.96885	-4.16;-4.16	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.98679	0.9557	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.99414	1.0931	10	0.87932	D	0	.	19.5841	0.95484	0.0:1.0:0.0:0.0	.	229	Q03692	COAA1_HUMAN	A	229	ENSP00000243222:G229A;ENSP00000327368:G229A	ENSP00000243222:G229A	G	-	2	0	COL10A1	116549286	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.757000	0.85209	2.700000	0.92200	0.563000	0.77884	GGA		0.607	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1			24	111	0	0	0	0	24	111				
RFX6	222546	broad.mit.edu	37	6	117232167	117232167	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:117232167C>T	ENST00000332958.2	+	7	758	c.742C>T	c.(742-744)Caa>Taa	p.Q248*	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	248					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CCCCAGCGCTCAACACCTTGT	0.363																																						uc003pxm.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(742-744)CAA>TAA		regulatory factor X, 6							105.0	105.0	105.0					6																	117232167		2203	4300	6503	SO:0001587	stop_gained	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117232167C>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.742C>T	6.37:g.117232167C>T	ENSP00000332208:p.Gln248*						p.Q248*	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			7	805	+			248					Q5T6B3	Nonsense_Mutation	SNP	ENST00000332958.2	37	c.742C>T	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	36	5.929630	0.97116	.	.	ENSG00000185002	ENST00000332958	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-14.9704	20.3473	0.98799	0.0:1.0:0.0:0.0	.	.	.	.	X	248	.	ENSP00000332208:Q248X	Q	+	1	0	RFX6	117338860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.884000	0.98904	0.655000	0.94253	CAA		0.363	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		40	169	0	0	0	0	40	169				
FAM184A	79632	broad.mit.edu	37	6	119345573	119345573	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:119345573C>G	ENST00000338891.7	-	2	1008	c.565G>C	c.(565-567)Gac>Cac	p.D189H	FAM184A_ENST00000352896.5_Missense_Mutation_p.D69H|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Missense_Mutation_p.D189H|FAM184A_ENST00000522284.1_Missense_Mutation_p.D69H|FAM184A_ENST00000368475.4_Missense_Mutation_p.D69H	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	189						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCTTGCAAGTCTTCCAATGCC	0.418																																						uc003pyj.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						c.(565-567)GAC>CAC		hypothetical protein LOC79632 isoform 1							154.0	141.0	145.0					6																	119345573		1927	4140	6067	SO:0001583	missense	79632							g.chr6:119345573C>G	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.565G>C	6.37:g.119345573C>G	ENSP00000342604:p.Asp189His					FAM184A_uc003pyk.3_Missense_Mutation_p.D69H|FAM184A_uc003pyl.3_Missense_Mutation_p.D69H	p.D189H	NM_024581	NP_078857	Q8NB25	F184A_HUMAN			2	913	-			189			Potential.		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.565G>C	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.171150	0.38315	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28	5.74	4.69	0.59074	.	0.269951	0.40728	N	0.001037	T	0.41650	0.1168	L	0.47716	1.5	0.46774	D	0.999198	P;D;D	0.64830	0.676;0.976;0.994	P;P;P	0.61477	0.521;0.83;0.889	T	0.21552	-1.0242	10	0.56958	D	0.05	-6.6611	15.639	0.76981	0.0:0.9234:0.0:0.0766	.	189;69;189	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	H	189;69;69;189;69	ENSP00000342604:D189H;ENSP00000326608:D69H;ENSP00000357460:D69H;ENSP00000430442:D189H;ENSP00000429826:D69H	ENSP00000342604:D189H	D	-	1	0	FAM184A	119387272	1.000000	0.71417	0.993000	0.49108	0.014000	0.08584	4.637000	0.61346	2.709000	0.92574	0.655000	0.94253	GAC		0.418	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		46	198	0	0	0	0	46	198				
SMPDL3A	10924	broad.mit.edu	37	6	123126144	123126144	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:123126144G>C	ENST00000368440.4	+	6	1006	c.829G>C	c.(829-831)Gat>Cat	p.D277H	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.D146H	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	277					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		GAAATTGATAGATATTTTTCA	0.348																																						uc003pzg.2		NA																	0					0						c.(829-831)GAT>CAT		acid sphingomyelinase-like phosphodiesterase 3A							102.0	104.0	103.0					6																	123126144		2203	4300	6503	SO:0001583	missense	10924				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity	g.chr6:123126144G>C	AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"""acid sphingomyelinase-like phosphodiesterase 3a"""	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.829G>C	6.37:g.123126144G>C	ENSP00000357425:p.Asp277His					SMPDL3A_uc003pzh.2_Missense_Mutation_p.D146H	p.D277H	NM_006714	NP_006705	Q92484	ASM3A_HUMAN		GBM - Glioblastoma multiforme(226;0.236)	6	1350	+			277					B7Z729|Q8WV13	Missense_Mutation	SNP	ENST00000368440.4	37	c.829G>C	CCDS5128.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.280061	0.23392	.	.	ENSG00000172594	ENST00000368440;ENST00000539041	D;D	0.88124	-2.34;-2.34	5.7	3.73	0.42828	Metallophosphoesterase domain (1);	0.888328	0.10282	N	0.693378	T	0.72637	0.3485	L	0.27053	0.805	0.09310	N	0.999997	P	0.46142	0.873	P	0.49140	0.601	T	0.64892	-0.6300	10	0.45353	T	0.12	-7.0124	4.6255	0.12476	0.2558:0.0:0.5863:0.1579	.	277	Q92484	ASM3A_HUMAN	H	277;146	ENSP00000357425:D277H;ENSP00000442152:D146H	ENSP00000357425:D277H	D	+	1	0	SMPDL3A	123167843	0.000000	0.05858	0.737000	0.30932	0.048000	0.14542	0.302000	0.19192	1.321000	0.45227	-0.345000	0.07892	GAT		0.348	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042039.1	NM_006714		7	227	0	0	0	0	7	227				
ARHGAP18	93663	broad.mit.edu	37	6	129959708	129959708	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:129959708C>G	ENST00000368149.2	-	3	471	c.383G>C	c.(382-384)gGa>gCa	p.G128A		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CTGTGGATCTCCAGCAGACTC	0.473																																						uc003qbr.2		NA																	0				ovary(2)|skin(1)	3						c.(382-384)GGA>GCA		Rho GTPase activating protein 18							95.0	98.0	97.0					6																	129959708		2203	4300	6503	SO:0001583	missense	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129959708C>G	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.383G>C	6.37:g.129959708C>G	ENSP00000357131:p.Gly128Ala					ARHGAP18_uc011ebw.1_Missense_Mutation_p.G128A	p.G128A	NM_033515	NP_277050	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	3	472	-			128						Missense_Mutation	SNP	ENST00000368149.2	37	c.383G>C	CCDS34535.1	.	.	.	.	.	.	.	.	.	.	C	0.536	-0.855600	0.02630	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	5.83	2.89	0.33648	.	0.659535	0.15247	N	0.272523	T	0.10594	0.0259	L	0.41710	1.295	0.24245	N	0.995349	B;B	0.11235	0.004;0.0	B;B	0.08055	0.003;0.001	T	0.29941	-0.9995	8	.	.	.	.	1.787	0.03044	0.1413:0.4806:0.138:0.2401	.	128;128	A9UK01;Q8N392	.;RHG18_HUMAN	A	83;128	.	.	G	-	2	0	ARHGAP18	130001401	0.121000	0.22262	0.052000	0.19188	0.621000	0.37620	0.259000	0.18405	0.271000	0.22005	0.650000	0.86243	GGA		0.473	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		48	102	0	0	0	0	48	102				
L3MBTL3	84456	broad.mit.edu	37	6	130425591	130425591	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:130425591C>G	ENST00000529410.1	+	21	2236	c.1757C>G	c.(1756-1758)tCa>tGa	p.S586*	L3MBTL3_ENST00000368139.2_Nonsense_Mutation_p.S561*|L3MBTL3_ENST00000361794.2_Nonsense_Mutation_p.S586*|L3MBTL3_ENST00000533560.1_Nonsense_Mutation_p.S561*|L3MBTL3_ENST00000368136.2_Nonsense_Mutation_p.S586*|L3MBTL3_ENST00000526019.1_Nonsense_Mutation_p.S561*			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	586					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TGTCCCTATTCAGAAATCAAT	0.368																																						uc003qbt.2		NA																	0				ovary(5)|skin(1)	6						c.(1756-1758)TCA>TGA		l(3)mbt-like 3 isoform a							81.0	83.0	82.0					6																	130425591		2203	4300	6503	SO:0001587	stop_gained	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130425591C>G	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1757C>G	6.37:g.130425591C>G	ENSP00000431962:p.Ser586*					L3MBTL3_uc003qbu.2_Nonsense_Mutation_p.S561*	p.S586*	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	19	1927	+			586					Q4VXE1|Q5VUM9|Q6P9B5	Nonsense_Mutation	SNP	ENST00000529410.1	37	c.1757C>G	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	C	41	9.125487	0.99073	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	17.4575	0.87611	0.0:1.0:0.0:0.0	.	.	.	.	X	586;561;586;561;561;586	.	ENSP00000354526:S586X	S	+	2	0	L3MBTL3	130467284	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.670000	0.68088	2.865000	0.98341	0.655000	0.94253	TCA		0.368	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		78	158	0	0	0	0	78	158				
MED23	9439	broad.mit.edu	37	6	131931197	131931197	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:131931197G>A	ENST00000368068.3	-	11	1245	c.1066C>T	c.(1066-1068)Ctt>Ttt	p.L356F	MED23_ENST00000368058.1_Missense_Mutation_p.L362F|MED23_ENST00000368053.4_Missense_Mutation_p.L362F|MED23_ENST00000539158.1_Missense_Mutation_p.L356F|MED23_ENST00000368060.3_Missense_Mutation_p.L356F|MED23_ENST00000540546.1_Missense_Mutation_p.L362F|MED23_ENST00000354577.4_Missense_Mutation_p.L362F|MED23_ENST00000403834.3_Missense_Mutation_p.L362F|MED23_ENST00000545957.1_Missense_Mutation_p.L45F	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	356					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TTCTGATGAAGAGAAAGCACC	0.428																																						uc003qcs.1		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(1066-1068)CTT>TTT		mediator complex subunit 23 isoform a							92.0	92.0	92.0					6																	131931197		2203	4300	6503	SO:0001583	missense	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131931197G>A	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.1066C>T	6.37:g.131931197G>A	ENSP00000357047:p.Leu356Phe					MED23_uc003qcq.2_Missense_Mutation_p.L362F|MED23_uc011eca.1_Missense_Mutation_p.L45F|MED23_uc003qct.1_Missense_Mutation_p.L362F|MED23_uc011ecb.1_RNA	p.L356F	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	11	1240	-	Breast(56;0.0753)		356					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	c.1066C>T	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.037843	0.54896	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546;ENST00000539158	D;D;D;D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.92047	0.7480	M	0.67397	2.05	0.80722	D	1	D;D;D;D	0.89917	0.998;0.997;1.0;1.0	D;D;D;D	0.79784	0.983;0.986;0.993;0.988	D	0.92581	0.6074	10	0.87932	D	0	-8.9759	18.9971	0.92818	0.0:0.0:1.0:0.0	.	45;362;356;362	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	F	362;356;362;356;362;45;362;362;356	ENSP00000346588:L362F;ENSP00000357047:L356F;ENSP00000384536:L362F;ENSP00000357039:L356F;ENSP00000357037:L362F;ENSP00000439977:L45F;ENSP00000357032:L362F;ENSP00000437818:L362F;ENSP00000445072:L356F	ENSP00000346588:L362F	L	-	1	0	MED23	131972890	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.659000	0.68010	2.567000	0.86603	0.591000	0.81541	CTT		0.428	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			30	79	0	0	0	0	30	79				
MAP3K5	4217	broad.mit.edu	37	6	136960771	136960771	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:136960771G>C	ENST00000359015.4	-	13	2204	c.1844C>G	c.(1843-1845)tCt>tGt	p.S615C	RP3-325F22.3_ENST00000432477.1_RNA|MAP3K5_ENST00000355845.4_5'UTR	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	615					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTCAAATTTAGAAATACTGAA	0.289																																						uc003qhc.2		NA																	0				ovary(2)|skin(2)|lung(1)	5						c.(1843-1845)TCT>TGT		mitogen-activated protein kinase kinase kinase							47.0	46.0	46.0					6																	136960771		2202	4293	6495	SO:0001583	missense	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136960771G>C	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1844C>G	6.37:g.136960771G>C	ENSP00000351908:p.Ser615Cys					MAP3K5_uc011edj.1_5'UTR|MAP3K5_uc011edk.1_Missense_Mutation_p.S460C	p.S615C	NM_005923	NP_005914	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	13	2205	-	Colorectal(23;0.24)		615					A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	c.1844C>G	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500882	0.85176	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.72167	-0.63	5.71	5.71	0.89125	.	0.051779	0.85682	D	0.000000	D	0.83959	0.5367	M	0.85197	2.74	0.80722	D	1	D;D	0.76494	0.987;0.999	P;D	0.77557	0.795;0.99	D	0.84375	0.0546	10	0.51188	T	0.08	.	18.6204	0.91319	0.0:0.0:1.0:0.0	.	695;615	Q59GL6;Q99683	.;M3K5_HUMAN	C	615;695	ENSP00000351908:S615C	ENSP00000351908:S615C	S	-	2	0	MAP3K5	137002464	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.346000	0.90060	2.689000	0.91719	0.655000	0.94253	TCT		0.289	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			13	37	0	0	0	0	13	37				
IFNGR1	3459	broad.mit.edu	37	6	137525504	137525504	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:137525504C>T	ENST00000367739.4	-	4	632	c.511G>A	c.(511-513)Gtg>Atg	p.V171M	IFNGR1_ENST00000367735.2_Missense_Mutation_p.V161M|IFNGR1_ENST00000478333.1_5'Flank|IFNGR1_ENST00000543628.1_Missense_Mutation_p.V143M	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	171					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	ACATTGTACACCCTAATGTAA	0.378																																						uc003qho.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(511-513)GTG>ATG		interferon gamma receptor 1 precursor	Interferon gamma-1b(DB00033)						182.0	162.0	169.0					6																	137525504		2203	4300	6503	SO:0001583	missense	3459				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	g.chr6:137525504C>T		CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.511G>A	6.37:g.137525504C>T	ENSP00000356713:p.Val171Met					IFNGR1_uc011edm.1_Missense_Mutation_p.V143M|IFNGR1_uc011edn.1_Missense_Mutation_p.V161M	p.V171M	NM_000416	NP_000407	P15260	INGR1_HUMAN		GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	4	614	-	Colorectal(23;0.24)		171			Extracellular (Potential).		B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	ENST00000367739.4	37	c.511G>A	CCDS5185.1	.	.	.	.	.	.	.	.	.	.	C	9.390	1.075143	0.20227	.	.	ENSG00000027697	ENST00000367739;ENST00000418947;ENST00000543628;ENST00000458076;ENST00000367735;ENST00000414770	T;T;T;T;D	0.87809	0.93;0.93;0.93;0.93;-2.3	4.98	-6.14	0.02111	Interferon gamma receptor, poxvirus/mammal (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	3.184090	0.00909	N	0.002447	T	0.48786	0.1519	N	0.16478	0.41	0.09310	N	1	P;P;P	0.39535	0.607;0.627;0.677	B;B;B	0.25987	0.038;0.039;0.065	T	0.59096	-0.7518	10	0.51188	T	0.08	2.8107	2.0772	0.03627	0.2514:0.4478:0.1268:0.174	.	161;143;171	B4DFT7;F5H5M7;P15260	.;.;INGR1_HUMAN	M	171;171;143;137;161;161	ENSP00000356713:V171M;ENSP00000443282:V143M;ENSP00000389249:V137M;ENSP00000356709:V161M;ENSP00000394230:V161M	ENSP00000356709:V161M	V	-	1	0	IFNGR1	137567197	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.293000	0.00523	-0.897000	0.03910	-1.628000	0.00784	GTG		0.378	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			49	191	0	0	0	0	49	191				
UTRN	7402	broad.mit.edu	37	6	144808819	144808819	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:144808819G>C	ENST00000367545.3	+	28	3958	c.3958G>C	c.(3958-3960)Gat>Cat	p.D1320H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1320					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCGATATGAAGATCTAAGTCA	0.458																																						uc003qkt.2		NA																	0				ovary(4)|pancreas(1)	5						c.(3958-3960)GAT>CAT		utrophin							86.0	92.0	90.0					6																	144808819		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144808819G>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.3958G>C	6.37:g.144808819G>C	ENSP00000356515:p.Asp1320His						p.D1320H	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	28	4050	+		Ovarian(120;0.218)	1320			Spectrin 9.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.3958G>C	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742586	0.49151	.	.	ENSG00000152818	ENST00000367545	T	0.16743	2.32	4.94	4.06	0.47325	.	0.357043	0.23729	N	0.045141	T	0.04092	0.0114	N	0.08118	0	0.80722	D	1	P	0.39326	0.668	B	0.33960	0.173	T	0.31336	-0.9947	10	0.72032	D	0.01	.	15.0189	0.71613	0.0:0.0:0.8567:0.1433	.	1320	P46939	UTRO_HUMAN	H	1320	ENSP00000356515:D1320H	ENSP00000356515:D1320H	D	+	1	0	UTRN	144850512	1.000000	0.71417	0.396000	0.26296	0.658000	0.38924	5.167000	0.64972	1.187000	0.43000	0.655000	0.94253	GAT		0.458	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			34	92	0	0	0	0	34	92				
GRM1	2911	broad.mit.edu	37	6	146673564	146673564	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:146673564C>T	ENST00000282753.1	+	4	1600	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	GRM1_ENST00000361719.2_Silent_p.I455I|GRM1_ENST00000492807.2_Silent_p.I455I|GRM1_ENST00000507907.1_Silent_p.I455I|GRM1_ENST00000355289.4_Silent_p.I455I|GRM1_ENST00000392299.2_Silent_p.I455I			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	455					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		ACTTCCTCATCAAGTCCTCAT	0.522																																						uc010khw.1		NA																	0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(1363-1365)ATC>ATT		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						198.0	195.0	196.0					6																	146673564		2203	4300	6503	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146673564C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1365C>T	6.37:g.146673564C>T						GRM1_uc010khv.1_Silent_p.I455I|GRM1_uc003qll.2_Silent_p.I455I|GRM1_uc011edz.1_Silent_p.I455I|GRM1_uc011eea.1_Silent_p.I455I	p.I455I	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	5	1835	+		Ovarian(120;0.0387)	455			Extracellular (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.1365C>T	CCDS5209.1																																																																																				0.522	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		70	283	0	0	0	0	70	283				
SYNE1	23345	broad.mit.edu	37	6	152686067	152686067	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:152686067C>G	ENST00000367255.5	-	63	10661	c.10060G>C	c.(10060-10062)Gaa>Caa	p.E3354Q	SYNE1_ENST00000448038.1_Missense_Mutation_p.E3361Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E3354Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E3361Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E3393Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3354					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGAATGCCTTCTGGAGAAGTA	0.438										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(10060-10062)GAA>CAA		spectrin repeat containing, nuclear envelope 1							145.0	137.0	140.0					6																	152686067		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152686067C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10060G>C	6.37:g.152686067C>G	ENSP00000356224:p.Glu3354Gln	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.E3361Q|SYNE1_uc003qou.3_Missense_Mutation_p.E3354Q|SYNE1_uc010kja.1_Missense_Mutation_p.E59Q	p.E3354Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	63	10662	-		Ovarian(120;0.0955)	3354			Spectrin 7.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.10060G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069750	0.55539	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.53423	1.22;1.22;1.22;1.22;0.62	5.27	4.41	0.53225	.	0.094408	0.45867	D	0.000338	T	0.56659	0.2000	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.983;0.983;0.983;0.993	T	0.57802	-0.7748	10	0.30854	T	0.27	.	13.8935	0.63755	0.0:0.9264:0.0:0.0736	.	3354;3354;3354;3361	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Q	3354;3361;3354;3361;3393	ENSP00000356224:E3354Q;ENSP00000396024:E3361Q;ENSP00000265368:E3354Q;ENSP00000390975:E3361Q;ENSP00000341887:E3393Q	ENSP00000265368:E3354Q	E	-	1	0	SYNE1	152727760	1.000000	0.71417	0.691000	0.30163	0.834000	0.47266	5.764000	0.68826	1.224000	0.43551	-0.145000	0.13849	GAA		0.438	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		36	123	0	0	0	0	36	123				
SYNE1	23345	broad.mit.edu	37	6	152686096	152686096	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:152686096C>G	ENST00000367255.5	-	63	10632	c.10031G>C	c.(10030-10032)gGa>gCa	p.G3344A	SYNE1_ENST00000448038.1_Missense_Mutation_p.G3351A|SYNE1_ENST00000265368.4_Missense_Mutation_p.G3344A|SYNE1_ENST00000423061.1_Missense_Mutation_p.G3351A|SYNE1_ENST00000341594.5_Missense_Mutation_p.G3383A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3344					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GACAGATTCTCCCCTGGTCAC	0.428										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(10030-10032)GGA>GCA		spectrin repeat containing, nuclear envelope 1							152.0	141.0	144.0					6																	152686096		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152686096C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10031G>C	6.37:g.152686096C>G	ENSP00000356224:p.Gly3344Ala	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.G3351A|SYNE1_uc003qou.3_Missense_Mutation_p.G3344A|SYNE1_uc010kja.1_Missense_Mutation_p.G49A	p.G3344A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	63	10633	-		Ovarian(120;0.0955)	3344			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.10031G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816243	0.70912	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.54071	1.39;1.2;1.39;1.2;0.59	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000015	T	0.65893	0.2735	M	0.77820	2.39	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.62101	-0.6925	10	0.19147	T	0.46	.	18.6813	0.91547	0.0:1.0:0.0:0.0	.	3344;3344;3344;3351	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	A	3344;3351;3344;3351;3383	ENSP00000356224:G3344A;ENSP00000396024:G3351A;ENSP00000265368:G3344A;ENSP00000390975:G3351A;ENSP00000341887:G3383A	ENSP00000265368:G3344A	G	-	2	0	SYNE1	152727789	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.628000	0.67791	2.405000	0.81733	0.650000	0.86243	GGA		0.428	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		36	110	0	0	0	0	36	110				
FNDC1	84624	broad.mit.edu	37	6	159654085	159654085	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:159654085C>T	ENST00000297267.9	+	11	2741	c.2541C>T	c.(2539-2541)agC>agT	p.S847S	FNDC1_ENST00000340366.6_Silent_p.S784S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	847					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGCCCTCCAGCTCCCCACAGT	0.607																																						uc010kjv.2		NA																	0				large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(2539-2541)AGC>AGT		fibronectin type III domain containing 1							21.0	26.0	25.0					6																	159654085		2004	4165	6169	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159654085C>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2541C>T	6.37:g.159654085C>T						FNDC1_uc010kjw.1_Silent_p.S732S	p.S847S	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2741	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	847					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.2541C>T	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	4.520	0.096546	0.08681	.	.	ENSG00000164694	ENST00000329629	.	.	.	5.06	-0.0124	0.13989	.	.	.	.	.	T	0.09335	0.0230	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37291	-0.9712	4	.	.	.	0.091	4.76	0.13102	0.208:0.3725:0.3444:0.0751	.	.	.	.	F	743	.	.	L	+	1	0	FNDC1	159574075	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.501000	0.06398	-0.453000	0.07076	-0.797000	0.03246	CTC		0.607	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		7	16	0	0	0	0	7	16				
LPA	4018	broad.mit.edu	37	6	160977188	160977188	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:160977188C>T	ENST00000316300.5	-	30	4886	c.4842G>A	c.(4840-4842)cgG>cgA	p.R1614R	LPA_ENST00000447678.1_Silent_p.R1614R			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4122	Kringle 15. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGTAGCACTGCCGGACCACAG	0.468																																						uc003qtl.2		NA																	0		p.R1614Q(1)		ovary(3)|skin(2)|pancreas(1)	6						c.(4840-4842)CGG>CGA		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						111.0	115.0	114.0					6																	160977188		2168	4297	6465	SO:0001819	synonymous_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160977188C>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4842G>A	6.37:g.160977188C>T							p.R1614R	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	31	4962	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4122			Kringle 37.		Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.4842G>A	CCDS43523.1																																																																																				0.468	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		4	161	0	0	0	0	4	161				
PLG	5340	broad.mit.edu	37	6	161157959	161157959	+	Silent	SNP	G	G	A	rs146030266		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:161157959G>A	ENST00000308192.9	+	14	1785	c.1722G>A	c.(1720-1722)ccG>ccA	p.P574P		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	574					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AAGTGGAGCCGAAGAAATGTC	0.517																																						uc003qtm.3		NA																	0				skin(3)|ovary(1)	4						c.(1720-1722)CCG>CCA		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	G		0,4406		0,0,2203	76.0	74.0	75.0		1722	-8.9	0.9	6	dbSNP_134	75	2,8598		0,2,4298	no	coding-synonymous	PLG	NM_000301.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		574/811	161157959	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161157959G>A	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1722G>A	6.37:g.161157959G>A							p.P574P	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	14	1785	+			574					Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	c.1722G>A	CCDS5279.1																																																																																				0.517	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		42	85	0	0	0	0	42	85				
MAP3K4	4216	broad.mit.edu	37	6	161470020	161470020	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:161470020C>G	ENST00000392142.4	+	3	864	c.716C>G	c.(715-717)tCa>tGa	p.S239*	MAP3K4_ENST00000348824.7_Nonsense_Mutation_p.S239*|MAP3K4_ENST00000366920.2_Nonsense_Mutation_p.S239*|MAP3K4_ENST00000366919.2_Nonsense_Mutation_p.S239*	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	239					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ACCTCAGTCTCAAAGAAAAAA	0.433																																						uc003qtn.2		NA																	0				ovary(3)|lung(3)|skin(2)|stomach(1)	9						c.(715-717)TCA>TGA		mitogen-activated protein kinase kinase kinase 4							40.0	41.0	40.0					6																	161470020		2203	4300	6503	SO:0001587	stop_gained	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161470020C>G	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.716C>G	6.37:g.161470020C>G	ENSP00000375986:p.Ser239*					MAP3K4_uc010kkc.1_Nonsense_Mutation_p.S239*|MAP3K4_uc003qto.2_Nonsense_Mutation_p.S239*|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	p.S239*	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	3	858	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	239					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Nonsense_Mutation	SNP	ENST00000392142.4	37	c.716C>G	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	C	37	6.595273	0.97692	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	.	.	.	6.14	6.14	0.99180	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-21.845	20.819	0.99723	0.0:1.0:0.0:0.0	.	.	.	.	X	239	.	ENSP00000297332:S239X	S	+	2	0	MAP3K4	161390010	1.000000	0.71417	0.760000	0.31359	0.879000	0.50718	7.454000	0.80714	2.927000	0.99377	0.637000	0.83480	TCA		0.433	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			21	70	0	0	0	0	21	70				
C6orf118	168090	broad.mit.edu	37	6	165693562	165693562	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:165693562C>G	ENST00000230301.8	-	9	1414	c.1394G>C	c.(1393-1395)aGa>aCa	p.R465T	C6orf118_ENST00000494696.2_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	465										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCTGTTTCCTCTGATTTTACA	0.323																																						uc003qum.3		NA																	0					0						c.(1393-1395)AGA>ACA		hypothetical protein LOC168090							133.0	118.0	123.0					6																	165693562		2203	4299	6502	SO:0001583	missense	168090							g.chr6:165693562C>G		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.1394G>C	6.37:g.165693562C>G	ENSP00000230301:p.Arg465Thr						p.R465T	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	9	1430	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	465					Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	c.1394G>C	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179388	0.38511	.	.	ENSG00000112539	ENST00000230301	T	0.14022	2.54	3.99	1.98	0.26296	.	1.613330	0.03366	N	0.198297	T	0.02767	0.0083	N	0.08118	0	0.09310	N	1	P	0.46512	0.879	B	0.42995	0.404	T	0.22138	-1.0225	10	0.46703	T	0.11	.	5.0792	0.14647	0.0:0.6781:0.0:0.3219	.	465	Q5T5N4	CF118_HUMAN	T	465	ENSP00000230301:R465T	ENSP00000230301:R465T	R	-	2	0	C6orf118	165613552	0.004000	0.15560	0.000000	0.03702	0.004000	0.04260	0.404000	0.20999	0.489000	0.27749	-0.150000	0.13652	AGA		0.323	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		27	63	0	0	0	0	27	63				
RPS6KA2	6196	broad.mit.edu	37	6	166918077	166918077	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:166918077G>A	ENST00000265678.4	-	6	706	c.483C>T	c.(481-483)gtC>gtT	p.V161V	RPS6KA2_ENST00000503859.1_Silent_p.V169V|RPS6KA2_ENST00000366863.2_Silent_p.V7V|RPS6KA2_ENST00000510118.1_Silent_p.V186V|RPS6KA2_ENST00000481261.2_Silent_p.V72V|RPS6KA2_ENST00000405189.3_Silent_p.V72V	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	161	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GGTAGAACTTGACATCCTCCT	0.413																																						uc003qvb.1		NA																	0				ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(481-483)GTC>GTT		ribosomal protein S6 kinase, 90kDa, polypeptide							138.0	126.0	130.0					6																	166918077		2203	4300	6503	SO:0001819	synonymous_variant	6196				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr6:166918077G>A	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.483C>T	6.37:g.166918077G>A						RPS6KA2_uc011ego.1_Silent_p.V72V|RPS6KA2_uc010kkl.1_Silent_p.V72V|RPS6KA2_uc003qvc.1_Silent_p.V169V|RPS6KA2_uc003qvd.1_Silent_p.V186V	p.V161V	NM_021135	NP_066958	Q15349	KS6A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)	6	702	-		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)	161			Protein kinase 1.		B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	ENST00000265678.4	37	c.483C>T	CCDS5294.1																																																																																				0.413	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135		52	119	0	0	0	0	52	119				
TCP10	6953	broad.mit.edu	37	6	167787923	167787923	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr6:167787923G>C	ENST00000397829.4	-	7	872	c.705C>G	c.(703-705)gtC>gtG	p.V235V	TCP10_ENST00000366827.2_Silent_p.V235V	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	262						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		AACTCCCTAAGACTGATGAGC	0.463																																						uc003qvv.1		NA																	0				breast(1)	1						c.(703-705)GTC>GTG		t-complex 10							45.0	50.0	48.0					6																	167787923		1860	4103	5963	SO:0001819	synonymous_variant	6953					cytosol		g.chr6:167787923G>C	U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.705C>G	6.37:g.167787923G>C						TCP10_uc003qvu.2_Silent_p.V235V|TCP10_uc003qvw.2_3'UTR	p.V235V	NM_004610	NP_004601	Q12799	TCP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)	7	917	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	262					Q5JR60|Q6P4F4	Silent	SNP	ENST00000397829.4	37	c.705C>G	CCDS43527.1																																																																																				0.463	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610		3	44	0	0	0	0	3	44				
HEATR2	54919	broad.mit.edu	37	7	794332	794332	+	Silent	SNP	G	G	A	rs151119269		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:794332G>A	ENST00000297440.6	+	5	1151	c.1131G>A	c.(1129-1131)gtG>gtA	p.V377V	HEATR2_ENST00000313147.5_Silent_p.V377V	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	377						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GGACCCGAGTGAAGTCGGCAC	0.672																																						uc010krz.1		NA																	0				skin(1)	1						c.(1129-1131)GTG>GTA		HEAT repeat containing 2							79.0	76.0	77.0					7																	794332		2203	4300	6503	SO:0001819	synonymous_variant	54919						protein binding	g.chr7:794332G>A	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1131G>A	7.37:g.794332G>A						HEATR2_uc003siz.2_Silent_p.V245V	p.V377V	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	5	1151	+		Ovarian(82;0.0112)	377			HEAT 6.		Q69YL1|Q96FI9|Q9NX75	Silent	SNP	ENST00000297440.6	37	c.1131G>A	CCDS34580.1	.	.	.	.	.	.	.	.	.	.	G	1.749	-0.489646	0.04352	.	.	ENSG00000164818	ENST00000437419;ENST00000440747	.	.	.	5.79	0.135	0.14775	.	.	.	.	.	T	0.43122	0.1233	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22977	-1.0201	4	.	.	.	-26.2645	2.7154	0.05186	0.2836:0.3639:0.2536:0.0989	.	.	.	.	K	150;179	.	.	E	+	1	0	HEATR2	760858	0.973000	0.33851	0.991000	0.47740	0.030000	0.12068	0.092000	0.15066	0.077000	0.16863	0.655000	0.94253	GAA		0.672	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		68	174	0	0	0	0	68	174				
SUN1	23353	broad.mit.edu	37	7	912962	912962	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:912962C>G	ENST00000405266.1	+	20	2487	c.2463C>G	c.(2461-2463)gtC>gtG	p.V821V	SUN1_ENST00000401592.1_Silent_p.V784V|SUN1_ENST00000389574.3_Silent_p.V701V|SUN1_ENST00000425407.2_Silent_p.V701V|SUN1_ENST00000413514.2_Silent_p.V582V|SUN1_ENST00000452783.2_Silent_p.V681V|SUN1_ENST00000456758.2_Silent_p.V973V			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	811					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCGAACCTGTCAAGTGAAGAC	0.428											OREG0017816	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011jvp.1		NA																	0					0						c.(2350-2352)GTC>GTG		unc-84 homolog A isoform a							148.0	140.0	142.0					7																	912962		1920	4134	6054	SO:0001819	synonymous_variant	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:912962C>G	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.2463C>G	7.37:g.912962C>G			OREG0017816	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	591	GET4_uc003sjj.1_Intron|SUN1_uc003sjf.2_Silent_p.V701V|SUN1_uc011jvq.1_Silent_p.V681V|SUN1_uc003sjg.2_Silent_p.V689V|SUN1_uc011jvr.1_Silent_p.V582V|SUN1_uc003sji.2_Silent_p.V622V|SUN1_uc003sjk.2_Silent_p.V423V	p.V784V	NM_001130965	NP_001124437	O94901	SUN1_HUMAN			20	2431	+			811			Perinuclear space.|SUN.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Silent	SNP	ENST00000405266.1	37	c.2352C>G		.	.	.	.	.	.	.	.	.	.	C	0.054	-1.242898	0.01481	.	.	ENSG00000164828	ENST00000433212	.	.	.	5.47	2.59	0.31030	.	.	.	.	.	T	0.23965	0.0580	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.21793	-1.0235	4	.	.	.	-5.3375	3.0642	0.06209	0.2475:0.4965:0.1201:0.136	.	.	.	.	E	633	.	.	Q	+	1	0	SUN1	879488	0.000000	0.05858	0.005000	0.12908	0.471000	0.32888	0.211000	0.17474	0.245000	0.21373	-0.379000	0.06801	CAA		0.428	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		49	158	0	0	0	0	49	158				
MICALL2	79778	broad.mit.edu	37	7	1486399	1486399	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:1486399C>G	ENST00000297508.7	-	5	766	c.591G>C	c.(589-591)ctG>ctC	p.L197L	MICALL2_ENST00000405088.4_Intron	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	197	Forms an intramolecular interaction with the C-terminal coiled coil domain keeping the protein in a closed conformation. {ECO:0000250}.|LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GCCGCTGTACCAGGTGCACGT	0.677																																						uc003skj.3		NA																	0				central_nervous_system(1)	1						c.(589-591)CTG>CTC		MICAL-like 2 isoform 1							44.0	37.0	39.0					7																	1486399		2184	4276	6460	SO:0001819	synonymous_variant	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1486399C>G	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.591G>C	7.37:g.1486399C>G							p.L197L	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	5	738	-		Ovarian(82;0.0253)	197			LIM zinc-binding.		D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Silent	SNP	ENST00000297508.7	37	c.591G>C	CCDS5324.1																																																																																				0.677	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		3	24	0	0	0	0	3	24				
SLC29A4	222962	broad.mit.edu	37	7	5340094	5340094	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:5340094G>C	ENST00000396872.3	+	10	1412	c.1251G>C	c.(1249-1251)ctG>ctC	p.L417L	SLC29A4_ENST00000406453.3_Silent_p.L403L|SLC29A4_ENST00000297195.4_Silent_p.L417L|SLC29A4_ENST00000439491.2_3'UTR			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	417					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	GCACCCACCTGCTGGCCTGCT	0.706																																						uc003sod.2		NA																	0				liver(1)	1						c.(1249-1251)CTG>CTC		solute carrier family 29 (nucleoside							59.0	53.0	55.0					7																	5340094		2203	4299	6502	SO:0001819	synonymous_variant	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5340094G>C	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.1251G>C	7.37:g.5340094G>C						SLC29A4_uc003soc.2_Silent_p.L417L|SLC29A4_uc003soe.2_Silent_p.L403L|SLC29A4_uc010ksw.2_Intron	p.L417L	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	10	1412	+		Ovarian(82;0.0175)	417			Helical; (Potential).		Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Silent	SNP	ENST00000396872.3	37	c.1251G>C	CCDS5340.1																																																																																				0.706	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		28	68	0	0	0	0	28	68				
RNF216	54476	broad.mit.edu	37	7	5662575	5662575	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:5662575G>A	ENST00000425013.2	-	17	2741	c.2517C>T	c.(2515-2517)gtC>gtT	p.V839V	RNF216_ENST00000389902.3_Silent_p.V896V|RNF216_ENST00000469375.1_5'UTR	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	839	Pro-rich.				apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AGTCATAGTTGACCCGCACGT	0.642																																						uc003soy.1		NA																	0				ovary(3)|breast(2)	5						c.(2515-2517)GTC>GTT		ring finger protein 216 isoform b							103.0	110.0	107.0					7																	5662575		2203	4300	6503	SO:0001819	synonymous_variant	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding	g.chr7:5662575G>A	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.2517C>T	7.37:g.5662575G>A						RNF216_uc010ksz.1_Silent_p.V461V|RNF216_uc010kta.1_Silent_p.V461V|RNF216_uc011jwj.1_Silent_p.V461V|RNF216_uc003sox.1_Silent_p.V896V	p.V839V	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	17	2707	-		Ovarian(82;0.07)	839			Pro-rich.		Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Silent	SNP	ENST00000425013.2	37	c.2517C>T	CCDS34595.1																																																																																				0.642	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		75	203	0	0	0	0	75	203				
RNF216	54476	broad.mit.edu	37	7	5662592	5662592	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:5662592G>C	ENST00000425013.2	-	17	2724	c.2500C>G	c.(2500-2502)Ctg>Gtg	p.L834V	RNF216_ENST00000389902.3_Missense_Mutation_p.L891V|RNF216_ENST00000469375.1_5'UTR	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	834	Pro-rich.				apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		ACGTTGGGCAGAGGGGGCACG	0.647																																						uc003soy.1		NA																	0				ovary(3)|breast(2)	5						c.(2500-2502)CTG>GTG		ring finger protein 216 isoform b							96.0	102.0	100.0					7																	5662592		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding	g.chr7:5662592G>C	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.2500C>G	7.37:g.5662592G>C	ENSP00000404602:p.Leu834Val					RNF216_uc010ksz.1_Missense_Mutation_p.L456V|RNF216_uc010kta.1_Missense_Mutation_p.L456V|RNF216_uc011jwj.1_Missense_Mutation_p.L456V|RNF216_uc003sox.1_Missense_Mutation_p.L891V	p.L834V	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	17	2690	-		Ovarian(82;0.07)	834			Pro-rich.		Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.2500C>G	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384658	0.61845	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.52983	0.66;0.64	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000004	T	0.58352	0.2116	L	0.50333	1.59	0.46078	D	0.998857	D;D	0.89917	0.957;1.0	P;D	0.87578	0.768;0.998	T	0.51403	-0.8710	10	0.18710	T	0.47	-8.9864	11.5738	0.50850	0.089:0.0:0.911:0.0	.	834;891	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	V	834;891;646	ENSP00000404602:L834V;ENSP00000374552:L891V	ENSP00000374552:L891V	L	-	1	2	RNF216	5629118	0.967000	0.33354	0.997000	0.53966	0.858000	0.48976	1.558000	0.36309	2.411000	0.81874	0.561000	0.74099	CTG		0.647	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		69	186	0	0	0	0	69	186				
HDAC9	9734	broad.mit.edu	37	7	18624936	18624936	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:18624936G>T	ENST00000432645.2	+	2	55	c.55G>T	c.(55-57)Gag>Tag	p.E19*	HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000417496.2_Nonsense_Mutation_p.E61*|HDAC9_ENST00000524023.1_5'UTR|HDAC9_ENST00000456174.2_5'UTR|HDAC9_ENST00000406451.4_Nonsense_Mutation_p.E19*|HDAC9_ENST00000441542.2_Nonsense_Mutation_p.E19*|HDAC9_ENST00000406072.1_Nonsense_Mutation_p.E47*|HDAC9_ENST00000405010.3_Nonsense_Mutation_p.E19*|HDAC9_ENST00000401921.1_Nonsense_Mutation_p.E19*|HDAC9_ENST00000428307.2_Nonsense_Mutation_p.E19*	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	19					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGTGGGCCTGGAGCCCATCTC	0.483																																						uc003suh.2		NA																	0				lung(2)|central_nervous_system(2)|kidney(1)	5						c.(55-57)GAG>TAG		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						148.0	149.0	149.0					7																	18624936		1933	4158	6091	SO:0001587	stop_gained	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18624936G>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.55G>T	7.37:g.18624936G>T	ENSP00000410337:p.Glu19*					HDAC9_uc003sue.2_Nonsense_Mutation_p.E19*|HDAC9_uc011jyd.1_Nonsense_Mutation_p.E19*|HDAC9_uc003sui.2_Nonsense_Mutation_p.E19*|HDAC9_uc003suj.2_Nonsense_Mutation_p.E19*|HDAC9_uc011jya.1_Nonsense_Mutation_p.E60*|HDAC9_uc003sua.1_Nonsense_Mutation_p.E38*|HDAC9_uc011jyb.1_Nonsense_Mutation_p.E19*|HDAC9_uc003sud.1_Nonsense_Mutation_p.E19*|HDAC9_uc011jyc.1_Nonsense_Mutation_p.E19*|HDAC9_uc003suf.1_Nonsense_Mutation_p.E47*|HDAC9_uc010kud.1_Nonsense_Mutation_p.E19*|HDAC9_uc011jye.1_5'UTR|HDAC9_uc011jyf.1_5'UTR	p.E19*	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			2	96	+	all_lung(11;0.187)		19					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Nonsense_Mutation	SNP	ENST00000432645.2	37	c.55G>T	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573580	0.86542	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000433709;ENST00000413509;ENST00000413380;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	.	.	.	5.93	5.93	0.95920	.	0.098967	0.44483	D	0.000460	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-17.738	20.3368	0.98748	0.0:0.0:1.0:0.0	.	.	.	.	X	61;64;19;19;19;19;19;19;47;19;19;19;19	.	ENSP00000262069:E64X	E	+	1	0	HDAC9	18591461	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	GAG		0.483	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			95	245	1	0	3.18e-57	3.45e-57	95	245				
CDCA7L	55536	broad.mit.edu	37	7	21947813	21947813	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:21947813C>T	ENST00000406877.3	-	4	895	c.616G>A	c.(616-618)Gag>Aag	p.E206K	CDCA7L_ENST00000356195.5_Missense_Mutation_p.E172K|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000373934.4_Missense_Mutation_p.E160K	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	206					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TCCTGGCTCTCATCCCGAGAG	0.463																																						uc010kuk.2		NA																	0					0						c.(616-618)GAG>AAG		cell division cycle associated 7-like isoform 1							80.0	72.0	74.0					7																	21947813		2203	4300	6503	SO:0001583	missense	55536				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr7:21947813C>T		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.616G>A	7.37:g.21947813C>T	ENSP00000383986:p.Glu206Lys					CDCA7L_uc003sve.3_Missense_Mutation_p.E172K|CDCA7L_uc010kul.2_Missense_Mutation_p.E160K|CDCA7L_uc003svf.3_Missense_Mutation_p.E205K|CDCA7L_uc011jyk.1_Missense_Mutation_p.E206K	p.E206K	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN			4	736	-			206					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.616G>A	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179690	0.57800	.	.	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934	T;T;T	0.47177	0.86;0.87;0.85	5.71	3.74	0.42951	.	0.913442	0.09559	N	0.785849	T	0.40222	0.1108	L	0.36672	1.1	0.09310	N	1	P;P;P;P	0.50443	0.544;0.483;0.935;0.673	B;B;P;B	0.45310	0.113;0.084;0.476;0.225	T	0.32241	-0.9914	10	0.72032	D	0.01	-9.1883	5.4536	0.16578	0.1297:0.5619:0.2295:0.0789	.	206;160;206;205	A8K8X5;C9K0Y1;Q96GN5;Q96GN5-2	.;.;CDA7L_HUMAN;.	K	172;206;160	ENSP00000348523:E172K;ENSP00000383986:E206K;ENSP00000363045:E160K	ENSP00000348523:E172K	E	-	1	0	CDCA7L	21914338	0.051000	0.20477	0.756000	0.31282	0.949000	0.60115	1.893000	0.39758	2.685000	0.91497	0.563000	0.77884	GAG		0.463	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		22	49	0	0	0	0	22	49				
MPP6	51678	broad.mit.edu	37	7	24703280	24703280	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:24703280G>A	ENST00000222644.5	+	6	973	c.723G>A	c.(721-723)ttG>ttA	p.L241L	MPP6_ENST00000409761.1_Silent_p.L129L|MPP6_ENST00000396475.2_Silent_p.L241L			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						AAGCAGGATTGAAGTTTTCCA	0.338																																						uc003swx.2		NA																	0					0						c.(721-723)TTG>TTA		membrane protein, palmitoylated 6							104.0	112.0	109.0					7																	24703280		2203	4300	6503	SO:0001819	synonymous_variant	51678				protein complex assembly		protein binding	g.chr7:24703280G>A	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.723G>A	7.37:g.24703280G>A						MPP6_uc003swy.2_Silent_p.L241L|MPP6_uc010kur.2_5'Flank	p.L241L	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN			7	1022	+			241			SH3.		B2RAF0	Silent	SNP	ENST00000222644.5	37	c.723G>A	CCDS5388.1																																																																																				0.338	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			41	114	0	0	0	0	41	114				
TBX20	57057	broad.mit.edu	37	7	35242187	35242187	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:35242187G>T	ENST00000408931.3	-	8	1725	c.1199C>A	c.(1198-1200)tCg>tAg	p.S400*		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	400					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GGCAATGGCCGATGGTGTCAG	0.562																																						uc011kas.1		NA																	0				central_nervous_system(1)	1						c.(1198-1200)TCG>TAG		T-box transcription factor TBX20							86.0	84.0	85.0					7																	35242187		2006	4185	6191	SO:0001587	stop_gained	57057					nucleus	DNA binding	g.chr7:35242187G>T	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.1199C>A	7.37:g.35242187G>T	ENSP00000386170:p.Ser400*						p.S400*	NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN			8	1210	-			400					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Nonsense_Mutation	SNP	ENST00000408931.3	37	c.1199C>A	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	G	39	7.653987	0.98412	.	.	ENSG00000164532	ENST00000408931	.	.	.	5.66	5.66	0.87406	.	0.268111	0.37219	N	0.002198	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7407	0.96230	0.0:0.0:1.0:0.0	.	.	.	.	X	400	.	ENSP00000386170:S400X	S	-	2	0	TBX20	35208712	1.000000	0.71417	0.435000	0.26784	0.688000	0.40055	4.945000	0.63568	2.654000	0.90174	0.609000	0.83330	TCG		0.562	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		16	51	1	0	9.77e-05	0.000100085	16	51				
VPS41	27072	broad.mit.edu	37	7	38785180	38785180	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:38785180C>G	ENST00000310301.4	-	23	2014	c.1960G>C	c.(1960-1962)Gaa>Caa	p.E654Q	VPS41_ENST00000395969.2_Missense_Mutation_p.E629Q	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	654					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						ACTGTCTCTTCTACAAAGTTT	0.338																																						uc003tgy.2		NA																	0				skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(1960-1962)GAA>CAA		vacuolar protein sorting 41 isoform 1							119.0	121.0	120.0					7																	38785180		2203	4297	6500	SO:0001583	missense	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38785180C>G	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1960G>C	7.37:g.38785180C>G	ENSP00000309457:p.Glu654Gln					VPS41_uc003tgz.2_Missense_Mutation_p.E629Q|VPS41_uc010kxn.2_Missense_Mutation_p.E565Q|VPS41_uc003tgx.2_RNA	p.E654Q	NM_014396	NP_055211	P49754	VPS41_HUMAN			23	1986	-			654			Clathrin.		E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.1960G>C	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908311	0.72868	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.22945	1.93;1.93	5.57	5.57	0.84162	Tetratricopeptide-like helical (1);	0.092848	0.64402	D	0.000001	T	0.30293	0.0760	L	0.53729	1.69	0.80722	D	1	P;P;P	0.35821	0.523;0.523;0.523	B;B;B	0.37015	0.239;0.163;0.163	T	0.02196	-1.1197	10	0.25106	T	0.35	-25.6309	19.9302	0.97116	0.0:1.0:0.0:0.0	.	654;629;654	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	Q	654;629	ENSP00000309457:E654Q;ENSP00000379297:E629Q	ENSP00000309457:E654Q	E	-	1	0	VPS41	38751705	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.625000	0.83145	2.782000	0.95742	0.557000	0.71058	GAA		0.338	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			62	167	0	0	0	0	62	167				
CDK13	8621	broad.mit.edu	37	7	40134276	40134276	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:40134276C>T	ENST00000181839.4	+	14	4841	c.4236C>T	c.(4234-4236)ctC>ctT	p.L1412L	CDK13_ENST00000340829.5_Silent_p.L1352L	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1412					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						ACATTTACCTCAATGCTGGTC	0.473																																						uc003thh.3		NA																	0				lung(2)|skin(2)|ovary(1)	5						c.(4234-4236)CTC>CTT		cell division cycle 2-like 5 isoform 1							167.0	156.0	160.0					7																	40134276		2203	4300	6503	SO:0001819	synonymous_variant	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40134276C>T	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.4236C>T	7.37:g.40134276C>T						CDK13_uc003thi.3_Silent_p.L1352L|CDK13_uc003thj.2_Silent_p.L463L|CDK13_uc003thk.2_Silent_p.L345L	p.L1412L	NM_003718	NP_003709	Q14004	CDK13_HUMAN			14	4518	+			1412					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Silent	SNP	ENST00000181839.4	37	c.4236C>T	CCDS5461.1																																																																																				0.473	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		82	235	0	0	0	0	82	235				
ADCY1	107	broad.mit.edu	37	7	45662289	45662289	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:45662289G>C	ENST00000297323.7	+	4	989	c.967G>C	c.(967-969)Gag>Cag	p.E323Q	ADCY1_ENST00000432715.1_Missense_Mutation_p.E98Q	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	323					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACAGCCCAGGAGCTGGTGAA	0.507																																						uc003tne.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(967-969)GAG>CAG		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						99.0	89.0	93.0					7																	45662289		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45662289G>C	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.967G>C	7.37:g.45662289G>C	ENSP00000297323:p.Glu323Gln					ADCY1_uc003tnd.2_Missense_Mutation_p.E98Q	p.E323Q	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			4	985	+			323			Cytoplasmic (Potential).		A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.967G>C	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093074	0.94149	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	D;D	0.85861	-2.04;-2.04	5.03	5.03	0.67393	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.84329	0.5448	L	0.39245	1.2	0.80722	D	1	P;P	0.49253	0.733;0.921	B;P	0.48840	0.172;0.592	D	0.85866	0.1413	10	0.59425	D	0.04	.	15.9089	0.79456	0.0:0.0:1.0:0.0	.	323;98	Q08828;C9J1J0	ADCY1_HUMAN;.	Q	98;323;323	ENSP00000392721:E98Q;ENSP00000297323:E323Q	ENSP00000297323:E323Q	E	+	1	0	ADCY1	45628814	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.888000	0.92464	2.589000	0.87451	0.655000	0.94253	GAG		0.507	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		10	65	0	0	0	0	10	65				
ABCA13	154664	broad.mit.edu	37	7	48314889	48314889	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:48314889G>C	ENST00000435803.1	+	17	5650	c.5626G>C	c.(5626-5628)Gaa>Caa	p.E1876Q		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1876					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATGTTCAAATGAAAGCTCCCG	0.423																																						uc003toq.2		NA																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(5626-5628)GAA>CAA		ATP binding cassette, sub-family A (ABC1),							59.0	60.0	60.0					7																	48314889		1829	4077	5906	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48314889G>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5626G>C	7.37:g.48314889G>C	ENSP00000411096:p.Glu1876Gln					ABCA13_uc010kyr.2_Missense_Mutation_p.E1379Q	p.E1876Q	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	5651	+			1876					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.5626G>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.587430	0.28268	.	.	ENSG00000179869	ENST00000435803	T	0.16897	2.31	6.16	3.26	0.37387	.	0.381221	0.22302	N	0.061859	T	0.14614	0.0353	M	0.64997	1.995	0.09310	N	0.999997	B	0.34372	0.451	B	0.28139	0.086	T	0.18053	-1.0349	9	.	.	.	.	5.9115	0.19031	0.1738:0.1559:0.6703:0.0	.	1876	Q86UQ4	ABCAD_HUMAN	Q	1876	ENSP00000411096:E1876Q	.	E	+	1	0	ABCA13	48285435	0.098000	0.21812	0.010000	0.14722	0.021000	0.10359	1.295000	0.33377	0.399000	0.25367	0.650000	0.86243	GAA		0.423	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		33	98	0	0	0	0	33	98				
ABCA13	154664	broad.mit.edu	37	7	48315502	48315502	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:48315502C>G	ENST00000435803.1	+	17	6263	c.6239C>G	c.(6238-6240)tCt>tGt	p.S2080C		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2080					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CACCTGCTTTCTGAAATGAAC	0.363																																						uc003toq.2		NA																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(6238-6240)TCT>TGT		ATP binding cassette, sub-family A (ABC1),							44.0	43.0	43.0					7																	48315502		1804	4058	5862	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48315502C>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.6239C>G	7.37:g.48315502C>G	ENSP00000411096:p.Ser2080Cys					ABCA13_uc010kyr.2_Missense_Mutation_p.S1583C	p.S2080C	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	6264	+			2080					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.6239C>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447272	0.43429	.	.	ENSG00000179869	ENST00000435803	T	0.21543	2.0	4.65	4.65	0.58169	.	0.000000	0.46442	D	0.000281	T	0.41096	0.1144	M	0.66939	2.045	0.23572	N	0.997384	D	0.89917	1.0	D	0.73380	0.98	T	0.16335	-1.0406	9	.	.	.	.	10.7179	0.46023	0.0:0.9079:0.0:0.0921	.	2080	Q86UQ4	ABCAD_HUMAN	C	2080	ENSP00000411096:S2080C	.	S	+	2	0	ABCA13	48286048	0.189000	0.23263	0.040000	0.18447	0.037000	0.13140	2.012000	0.40932	2.308000	0.77769	0.484000	0.47621	TCT		0.363	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		15	52	0	0	0	0	15	52				
COBL	23242	broad.mit.edu	37	7	51095705	51095705	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:51095705G>C	ENST00000265136.7	-	10	3253	c.3088C>G	c.(3088-3090)Cag>Gag	p.Q1030E	COBL_ENST00000395542.2_Missense_Mutation_p.Q1112E	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1030					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTGCAGGCCTGAGTGTCAGAT	0.622																																					NSCLC(189;2119 2138 12223 30818 34679)	uc003tpr.3		NA																	0				skin(3)|ovary(2)	5						c.(3088-3090)CAG>GAG		cordon-bleu homolog							53.0	54.0	53.0					7																	51095705		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51095705G>C	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.3088C>G	7.37:g.51095705G>C	ENSP00000265136:p.Gln1030Glu					COBL_uc003tps.2_Missense_Mutation_p.Q1087E|COBL_uc011kcl.1_Missense_Mutation_p.Q1030E|COBL_uc003tpp.3_Missense_Mutation_p.Q816E|COBL_uc003tpq.3_Missense_Mutation_p.Q971E|COBL_uc003tpo.3_Missense_Mutation_p.Q572E	p.Q1030E	NM_015198	NP_056013	O75128	COBL_HUMAN			10	3273	-	Glioma(55;0.08)		1030					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.3088C>G	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.324843	0.24080	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.12879	2.65;2.64;2.65;2.65	4.78	2.93	0.34026	.	0.259173	0.21256	N	0.077555	T	0.10852	0.0265	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.24721	0.021;0.004;0.006;0.021;0.11	B;B;B;B;B	0.20184	0.013;0.011;0.003;0.022;0.028	T	0.18650	-1.0330	10	0.30854	T	0.27	.	13.9475	0.64094	0.0:0.2909:0.7091:0.0	.	1030;1087;1030;1112;572	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	E	1030;922;915;1112	ENSP00000265136:Q1030E;ENSP00000401204:Q922E;ENSP00000413498:Q915E;ENSP00000378912:Q1112E	ENSP00000265136:Q1030E	Q	-	1	0	COBL	51063199	0.530000	0.26330	0.000000	0.03702	0.002000	0.02628	3.549000	0.53681	0.400000	0.25396	-0.302000	0.09304	CAG		0.622	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		29	80	0	0	0	0	29	80				
POM121L12	285877	broad.mit.edu	37	7	53103598	53103598	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:53103598C>G	ENST00000408890.4	+	1	250	c.234C>G	c.(232-234)atC>atG	p.I78M		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	78										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCACCTCATCGAGGTGCGGC	0.716																																						uc003tpz.2		NA																	0					0						c.(232-234)ATC>ATG		POM121 membrane glycoprotein-like 12							17.0	20.0	19.0					7																	53103598		1884	4103	5987	SO:0001583	missense	285877							g.chr7:53103598C>G		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.234C>G	7.37:g.53103598C>G	ENSP00000386133:p.Ile78Met						p.I78M	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	250	+			78					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.234C>G	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	4.302	0.055276	0.08291	.	.	ENSG00000221900	ENST00000408890	T	0.23754	1.89	1.81	0.808	0.18719	.	.	.	.	.	T	0.12944	0.0314	N	0.08118	0	0.09310	N	1	B	0.21905	0.062	B	0.29077	0.098	T	0.31251	-0.9950	9	0.52906	T	0.07	.	5.0771	0.14638	0.3483:0.6517:0.0:0.0	.	78	Q8N7R1	P1L12_HUMAN	M	78	ENSP00000386133:I78M	ENSP00000386133:I78M	I	+	3	3	POM121L12	53071092	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.071000	0.14594	0.278000	0.22164	0.313000	0.20887	ATC		0.716	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		4	27	0	0	0	0	4	27				
RABGEF1	27342	broad.mit.edu	37	7	66248715	66248715	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:66248715G>A	ENST00000284957.5	+	4	477	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	KCTD7_ENST00000451741.2_Missense_Mutation_p.E134K|RABGEF1_ENST00000439720.2_Missense_Mutation_p.E147K|KCTD7_ENST00000510829.2_Missense_Mutation_p.E134K|KCTD7_ENST00000380828.2_Missense_Mutation_p.E174K|RABGEF1_ENST00000437078.2_Missense_Mutation_p.E148K|RABGEF1_ENST00000450873.2_Missense_Mutation_p.E134K|RABGEF1_ENST00000484547.2_3'UTR			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	312					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						AACCAGCATTGAAACGGATAG	0.393																																						uc011kee.1		NA																	0				ovary(1)	1						c.(442-444)GAA>AAA		RAB guanine nucleotide exchange factor (GEF) 1							50.0	47.0	48.0					7																	66248715		2203	4300	6503	SO:0001583	missense	27342				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	g.chr7:66248715G>A	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.400G>A	7.37:g.66248715G>A	ENSP00000284957:p.Glu134Lys					RABGEF1_uc003tvf.2_5'UTR|RABGEF1_uc003tvg.2_Intron|RABGEF1_uc010lag.2_Missense_Mutation_p.E134K|RABGEF1_uc003tvh.2_Missense_Mutation_p.E134K|RABGEF1_uc003tvi.2_5'UTR	p.E148K	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN			4	606	+			312					B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	ENST00000284957.5	37	c.442G>A	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	.	24.0	4.479784	0.84747	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T	0.47177	1.67;0.86;0.86;0.86;0.86;0.85;0.85	5.72	5.72	0.89469	.	0.046338	0.85682	D	0.000000	T	0.51449	0.1675	M	0.65498	2.005	0.80722	D	1	B	0.14012	0.009	B	0.12837	0.008	T	0.49370	-0.8947	10	0.66056	D	0.02	-15.9853	18.856	0.92252	0.0:0.0:1.0:0.0	.	148	B4DZM7	.	K	179;174;134;134;134;134;147;148	ENSP00000370208:E174K;ENSP00000421124:E134K;ENSP00000398177:E134K;ENSP00000284957:E134K;ENSP00000415815:E134K;ENSP00000403429:E147K;ENSP00000390480:E148K	ENSP00000370207:E179K	E	+	1	0	RABGEF1;KCTD7	65886150	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.968000	0.93407	2.692000	0.91855	0.555000	0.69702	GAA		0.393	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504		23	50	0	0	0	0	23	50				
DNAJC30	84277	broad.mit.edu	37	7	73097515	73097515	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:73097515C>T	ENST00000395176.2	-	1	268	c.239G>A	c.(238-240)cGc>cAc	p.R80H	WBSCR22_ENST00000423166.2_5'Flank|WBSCR22_ENST00000464615.1_3'UTR|WBSCR22_ENST00000265758.2_5'Flank|WBSCR22_ENST00000423497.1_5'Flank	NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 30	80	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					mitochondrion (GO:0005739)				kidney(1)|large_intestine(2)|lung(1)	4						CCCGGAGTTGCGGTCCGGGTG	0.667																																						uc003tys.1		NA																	0					0						c.(238-240)CGC>CAC		DnaJ (Hsp40) homolog subfamily C member 30							69.0	82.0	78.0					7																	73097515		2198	4295	6493	SO:0001583	missense	84277				protein folding		heat shock protein binding|unfolded protein binding	g.chr7:73097515C>T	AF412025	CCDS5556.1	7q11.23	2011-09-02	2008-06-17	2008-06-17	ENSG00000176410	ENSG00000176410		"""Heat shock proteins / DNAJ (HSP40)"""	16410	protein-coding gene	gene with protein product			"""Williams Beuren syndrome chromosome region 18"""	WBSCR18		12073013	Standard	NM_032317		Approved		uc003tys.1	Q96LL9	OTTHUMG00000023290	ENST00000395176.2:c.239G>A	7.37:g.73097515C>T	ENSP00000378605:p.Arg80His					WBSCR22_uc010lbi.1_5'Flank|WBSCR22_uc003tyt.2_5'Flank|WBSCR22_uc003tyu.2_5'Flank|WBSCR22_uc003tyv.2_5'Flank|WBSCR22_uc003tyw.1_5'Flank	p.R80H	NM_032317	NP_115693	Q96LL9	DJC30_HUMAN			1	267	-			80			J.		Q9BSG8	Missense_Mutation	SNP	ENST00000395176.2	37	c.239G>A	CCDS5556.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178299	0.94846	.	.	ENSG00000176410	ENST00000395176;ENST00000539255	T	0.32753	1.44	5.06	5.06	0.68205	Heat shock protein DnaJ, N-terminal (5);	0.186474	0.34628	N	0.003804	T	0.53045	0.1772	M	0.64630	1.985	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.53913	-0.8371	10	0.66056	D	0.02	-16.2545	15.9497	0.79823	0.0:1.0:0.0:0.0	.	80	Q96LL9	DJC30_HUMAN	H	80;77	ENSP00000378605:R80H	ENSP00000378605:R80H	R	-	2	0	DNAJC30	72735451	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.451000	0.60047	2.623000	0.88846	0.655000	0.94253	CGC		0.667	DNAJC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252304.2			4	133	0	0	0	0	4	133				
LIMK1	3984	broad.mit.edu	37	7	73523309	73523309	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:73523309C>G	ENST00000336180.2	+	10	1278	c.1227C>G	c.(1225-1227)ctC>ctG	p.L409L	LIMK1_ENST00000418310.1_Silent_p.L439L|LIMK1_ENST00000538333.3_Silent_p.L375L	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	409	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	ACAAGAGGCTCAACTTCATCA	0.622																																						uc003uaa.1		NA																	0				stomach(2)|ovary(1)	3						c.(1225-1227)CTC>CTG		LIM domain kinase 1							123.0	93.0	103.0					7																	73523309		2203	4300	6503	SO:0001819	synonymous_variant	3984				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	g.chr7:73523309C>G	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.1227C>G	7.37:g.73523309C>G						RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Silent_p.L375L|LIMK1_uc003uac.1_Silent_p.L201L	p.L409L	NM_002314	NP_002305	P53667	LIMK1_HUMAN			10	1392	+		Lung NSC(55;0.137)	409			Protein kinase.		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Silent	SNP	ENST00000336180.2	37	c.1227C>G	CCDS5563.1																																																																																				0.622	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		19	31	0	0	0	0	19	31				
CACNA2D1	781	broad.mit.edu	37	7	81603800	81603800	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:81603800A>C	ENST00000356253.5	-	25	2315	c.2060T>G	c.(2059-2061)aTt>aGt	p.I687S	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.I675S			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	687					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TTTTCTATCAATAAACTCGTT	0.284																																						uc003uhr.1		NA																	0				ovary(5)|pancreas(1)	6						c.(2023-2025)ATT>AGT		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						66.0	65.0	65.0					7																	81603800		2196	4273	6469	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81603800A>C	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2060T>G	7.37:g.81603800A>C	ENSP00000348589:p.Ile687Ser						p.I675S	NM_000722	NP_000713	P54289	CA2D1_HUMAN			25	2280	-			687			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.2024T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.3|22.3	4.266082|4.266082	0.80358|0.80358	.|.	.|.	ENSG00000153956|ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253|ENST00000443883	T;T|.	0.07327|.	3.24;3.2|.	4.63|4.63	4.63|4.63	0.57726|0.57726	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71953|0.71953	0.3401|0.3401	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	D|.	0.65815|.	0.995|.	D|.	0.66979|.	0.948|.	T|T	0.72606|0.72606	-0.4242|-0.4242	10|5	0.87932|.	D|.	0|.	-17.675|-17.675	13.5069|13.5069	0.61489|0.61489	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	675|.	P54289-2|.	.|.	S|V	675;694;687|186	ENSP00000349320:I675S;ENSP00000348589:I687S|.	ENSP00000284088:I694S|.	I|L	-|-	2|1	0|2	CACNA2D1|CACNA2D1	81441736|81441736	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	8.500000|8.500000	0.90498|0.90498	1.857000|1.857000	0.53885|0.53885	0.482000|0.482000	0.46254|0.46254	ATT|TTG		0.284	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				3	38	0	0	0	0	3	38				
PCLO	27445	broad.mit.edu	37	7	82474791	82474791	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:82474791C>T	ENST00000333891.9	-	13	14179	c.13842G>A	c.(13840-13842)gcG>gcA	p.A4614A	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000423517.2_Silent_p.A4614A	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGGGGATTTCGCCTTATCCA	0.418																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(13840-13842)GCG>GCA		piccolo isoform 1							60.0	57.0	58.0					7																	82474791		1891	4125	6016	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82474791C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13842G>A	7.37:g.82474791C>T						PCLO_uc003uhv.2_Silent_p.A4614A|PCLO_uc003uht.1_Silent_p.A65A|PCLO_uc003uhu.1_Silent_p.A44A	p.A4614A	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			13	14131	-			4502						Silent	SNP	ENST00000333891.9	37	c.13842G>A	CCDS47630.1																																																																																				0.418	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	19	0	0	0	0	6	19				
PCLO	27445	broad.mit.edu	37	7	82545543	82545543	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:82545543G>A	ENST00000333891.9	-	7	12096	c.11759C>T	c.(11758-11760)tCa>tTa	p.S3920L	PCLO_ENST00000437081.1_Missense_Mutation_p.S640L|PCLO_ENST00000423517.2_Missense_Mutation_p.S3920L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGATAAGGTGAAACTTGCTG	0.463																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(11758-11760)TCA>TTA		piccolo isoform 1							399.0	395.0	396.0					7																	82545543		2025	4176	6201	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82545543G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11759C>T	7.37:g.82545543G>A	ENSP00000334319:p.Ser3920Leu					PCLO_uc003uhv.2_Missense_Mutation_p.S3920L|PCLO_uc010lec.2_Missense_Mutation_p.S885L	p.S3920L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			7	12048	-			3851			Gln-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.11759C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739621	0.30774	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.18657	2.2;2.2	5.6	5.6	0.85130	.	.	.	.	.	T	0.33904	0.0879	M	0.66939	2.045	0.54753	D	0.999981	B;P;P	0.51537	0.236;0.946;0.946	B;P;P	0.46253	0.031;0.509;0.509	T	0.14008	-1.0488	9	0.87932	D	0	.	19.6287	0.95691	0.0:0.0:1.0:0.0	.	3851;3920;3920	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	L	3920;3920;640	ENSP00000334319:S3920L;ENSP00000388393:S3920L	ENSP00000334319:S3920L	S	-	2	0	PCLO	82383479	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.062000	0.89475	2.652000	0.90054	0.563000	0.77884	TCA		0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		114	440	0	0	0	0	114	440				
GRM3	2913	broad.mit.edu	37	7	86468181	86468181	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:86468181G>C	ENST00000361669.2	+	4	2450	c.1351G>C	c.(1351-1353)Gat>Cat	p.D451H	GRM3_ENST00000546348.1_Missense_Mutation_p.D43H|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.D323H	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	451					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TAAAGATGCAGATAGCATAGT	0.358																																					GBM(52;969 1098 3139 52280)	uc003uid.2		NA																	0				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(1351-1353)GAT>CAT		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						47.0	46.0	46.0					7																	86468181		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86468181G>C		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1351G>C	7.37:g.86468181G>C	ENSP00000355316:p.Asp451His					GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.D323H|GRM3_uc010leh.2_Missense_Mutation_p.D43H	p.D451H	NM_000840	NP_000831	Q14832	GRM3_HUMAN			4	2450	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		451			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.1351G>C	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080052	0.36662	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.90444	-2.08;-2.67;-2.08	5.91	5.03	0.67393	Extracellular ligand-binding receptor (1);	0.044398	0.85682	D	0.000000	D	0.83562	0.5281	N	0.17082	0.46	0.80722	D	1	B;B;B	0.14805	0.011;0.004;0.005	B;B;B	0.14578	0.003;0.006;0.011	T	0.79391	-0.1823	10	0.54805	T	0.06	.	14.0215	0.64558	0.0716:0.0:0.9284:0.0	.	43;323;451	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	H	451;43;323	ENSP00000355316:D451H;ENSP00000444064:D43H;ENSP00000441407:D323H	ENSP00000355316:D451H	D	+	1	0	GRM3	86306117	1.000000	0.71417	0.957000	0.39632	0.996000	0.88848	6.251000	0.72441	1.506000	0.48736	0.655000	0.94253	GAT		0.358	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			5	34	0	0	0	0	5	34				
GRM3	2913	broad.mit.edu	37	7	86468291	86468291	+	Silent	SNP	A	A	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:86468291A>T	ENST00000361669.2	+	4	2560	c.1461A>T	c.(1459-1461)gcA>gcT	p.A487A	GRM3_ENST00000546348.1_Silent_p.A79A|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Silent_p.A359A	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	487					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GTCACTGGGCAGAAACCTTAT	0.468																																					GBM(52;969 1098 3139 52280)	uc003uid.2		NA																	0				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(1459-1461)GCA>GCT		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						84.0	76.0	79.0					7																	86468291		2203	4300	6503	SO:0001819	synonymous_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86468291A>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1461A>T	7.37:g.86468291A>T						GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Silent_p.A359A|GRM3_uc010leh.2_Silent_p.A79A	p.A487A	NM_000840	NP_000831	Q14832	GRM3_HUMAN			4	2560	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		487			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.1461A>T	CCDS5600.1																																																																																				0.468	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			21	51	0	0	0	0	21	51				
ABCB1	5243	broad.mit.edu	37	7	87195516	87195516	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:87195516C>G	ENST00000265724.3	-	8	989	c.572G>C	c.(571-573)gGa>gCa	p.G191A	ABCB1_ENST00000543898.1_Missense_Mutation_p.G127A	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	191	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|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)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AAAGAACATTCCAATTTTGTC	0.363																																						uc003uiz.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(571-573)GGA>GCA		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						149.0	138.0	142.0					7																	87195516		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87195516C>G	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.572G>C	7.37:g.87195516C>G	ENSP00000265724:p.Gly191Ala					ABCB1_uc011khc.1_Missense_Mutation_p.G127A	p.G191A	NM_000927	NP_000918	P08183	MDR1_HUMAN			8	990	-	Esophageal squamous(14;0.00164)		191			Helical; (Potential).|ABC transmembrane type-1 1.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.572G>C	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478462	0.26511	.	.	ENSG00000085563	ENST00000265724;ENST00000543898	D;D	0.90385	-2.66;-2.66	5.86	5.86	0.93980	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.101132	0.64402	D	0.000002	D	0.87438	0.6177	L	0.31926	0.97	0.58432	D	0.99999	B;B	0.25809	0.088;0.135	B;B	0.36092	0.217;0.125	T	0.82168	-0.0591	10	0.15952	T	0.53	-19.8443	16.4468	0.83936	0.0:0.869:0.131:0.0	.	127;191	B5AK60;P08183	.;MDR1_HUMAN	A	191;127	ENSP00000265724:G191A;ENSP00000444095:G127A	ENSP00000265724:G191A	G	-	2	0	ABCB1	87033452	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.013000	0.49582	2.776000	0.95493	0.655000	0.94253	GGA		0.363	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		5	150	0	0	0	0	5	150				
ADAM22	53616	broad.mit.edu	37	7	87564431	87564431	+	Missense_Mutation	SNP	C	C	T	rs370626885		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:87564431C>T	ENST00000265727.7	+	2	255	c.176C>T	c.(175-177)tCg>tTg	p.S59L	ADAM22_ENST00000398201.4_Missense_Mutation_p.S59L|ADAM22_ENST00000398204.4_Missense_Mutation_p.S59L|ADAM22_ENST00000439864.1_Missense_Mutation_p.S59L|ADAM22_ENST00000315984.7_Missense_Mutation_p.S59L|ADAM22_ENST00000398209.3_Missense_Mutation_p.S59L			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	59					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ATCTACCGCTCGGGCGGCGAA	0.667																																						uc003ujn.2		NA																	0				ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(175-177)TCG>TTG		ADAM metallopeptidase domain 22 isoform 1		C	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,3922		0,0,1961	34.0	38.0	37.0		176,176,176,176,176	3.0	0.8	7		37	1,8283		0,1,4141	no	missense,missense,missense,missense,missense	ADAM22	NM_004194.3,NM_016351.4,NM_021721.3,NM_021722.4,NM_021723.3	145,145,145,145,145	0,1,6102	TT,TC,CC		0.0121,0.0,0.0082	benign,benign,benign,benign,benign	59/860,59/871,59/824,59/900,59/907	87564431	1,12205	1961	4142	6103	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87564431C>T	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.176C>T	7.37:g.87564431C>T	ENSP00000265727:p.Ser59Leu					ADAM22_uc003uji.1_Missense_Mutation_p.S58L|ADAM22_uc003ujj.1_Missense_Mutation_p.S59L|ADAM22_uc003ujk.1_Missense_Mutation_p.S59L|ADAM22_uc003ujl.1_Missense_Mutation_p.S59L|ADAM22_uc003ujm.2_Missense_Mutation_p.S59L|ADAM22_uc003ujo.2_Missense_Mutation_p.S59L|ADAM22_uc003ujp.1_Missense_Mutation_p.S111L	p.S59L	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		2	255	+	Esophageal squamous(14;0.00202)		59					O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.176C>T	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.814583	0.32053	0.0	1.21E-4	ENSG00000008277	ENST00000398204;ENST00000439864;ENST00000412441;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T;T;T	0.15718	4.49;3.68;2.4;4.5;4.5;4.5;4.49;4.55	4.83	3.0	0.34707	.	1.034700	0.07653	N	0.932283	T	0.08626	0.0214	N	0.05230	-0.09	0.20489	N	0.999895	B;B;B;B;B;B	0.14805	0.001;0.0;0.0;0.002;0.011;0.001	B;B;B;B;B;B	0.12156	0.004;0.0;0.001;0.001;0.007;0.002	T	0.39860	-0.9593	10	0.18276	T	0.48	.	8.0418	0.30526	0.0:0.8039:0.0:0.1961	.	111;59;59;59;59;59	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2;E7EPF1;D6W5P7	.;.;ADA22_HUMAN;.;.;.	L	59;59;59;59;59;59;59;26	ENSP00000381262:S59L;ENSP00000391334:S59L;ENSP00000413899:S59L;ENSP00000381260:S59L;ENSP00000265727:S59L;ENSP00000315900:S59L;ENSP00000381267:S59L;ENSP00000381261:S26L	ENSP00000265727:S59L	S	+	2	0	ADAM22	87402367	0.957000	0.32711	0.797000	0.32132	0.751000	0.42716	1.594000	0.36697	0.731000	0.32448	0.655000	0.94253	TCG		0.667	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		15	52	0	0	0	0	15	52				
CFAP69	79846	broad.mit.edu	37	7	89906554	89906554	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:89906554G>C	ENST00000389297.4	+	11	1312	c.1061G>C	c.(1060-1062)gGa>gCa	p.G354A	C7orf63_ENST00000316089.8_Missense_Mutation_p.G354A|C7orf63_ENST00000497910.1_Missense_Mutation_p.G336A	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		354										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TTGGTAAAAGGACTTAAGCTT	0.274																																						uc010lep.2		NA																	0				ovary(1)	1						c.(1060-1062)GGA>GCA		hypothetical protein LOC79846 isoform 1							30.0	30.0	30.0					7																	89906554		1789	4023	5812	SO:0001583	missense	79846						binding	g.chr7:89906554G>C																												ENST00000389297.4:c.1061G>C	7.37:g.89906554G>C	ENSP00000373948:p.Gly354Ala					C7orf63_uc003ukf.2_RNA|C7orf63_uc003ukg.2_Missense_Mutation_p.G29A|C7orf63_uc011khj.1_Missense_Mutation_p.G336A|C7orf63_uc011khk.1_5'Flank	p.G354A	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN			11	1312	+			354					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	c.1061G>C	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964368	0.74131	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910	T;T;T	0.48522	0.9;0.9;0.81	6.03	6.03	0.97812	Armadillo-type fold (1);	0.211900	0.49916	D	0.000124	T	0.55545	0.1927	M	0.67953	2.075	0.32237	N	0.573233	B;P;B	0.38827	0.2;0.649;0.421	B;B;B	0.41510	0.167;0.359;0.168	T	0.63834	-0.6547	10	0.51188	T	0.08	-14.8458	20.5568	0.99304	0.0:0.0:1.0:0.0	.	336;354;354	A5D8W1-5;A5D8W1;A5D8W1-2	.;CG063_HUMAN;.	A	354;354;336	ENSP00000373948:G354A;ENSP00000321753:G354A;ENSP00000419549:G336A	ENSP00000321753:G354A	G	+	2	0	C7orf63	89744490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.861000	0.62969	2.861000	0.98227	0.655000	0.94253	GGA		0.274	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			9	70	0	0	0	0	9	70				
COL1A2	1278	broad.mit.edu	37	7	94049587	94049587	+	Missense_Mutation	SNP	C	C	T	rs139199272		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:94049587C>T	ENST00000297268.6	+	35	2593	c.2122C>T	c.(2122-2124)Cgg>Tgg	p.R708W		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	708			Missing (in OI2). {ECO:0000269|PubMed:1339453}.|R -> Q (in Marfan syndrome).		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	tgctggtcctCGGGGAAGCCC	0.448										HNSCC(75;0.22)																												uc003ung.1		NA																COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(2122-2124)CGG>TGG		alpha 2 type I collagen precursor	Collagenase(DB00048)	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	107.0	106.0	106.0		2122	4.9	1.0	7	dbSNP_134	106	0,8600		0,0,4300	no	missense	COL1A2	NM_000089.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	708/1367	94049587	1,13005	2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94049587C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2122C>T	7.37:g.94049587C>T	ENSP00000297268:p.Arg708Trp	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	p.R708W	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		35	2593	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		708		R -> Q (in Marfan syndrome).|Missing (in OI2A).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.2122C>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608636	0.66558	2.27E-4	0.0	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.96200	-3.94	5.84	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.98086	0.9369	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99191	1.0870	10	0.87932	D	0	.	16.5521	0.84475	0.1317:0.8683:0.0:0.0	.	708	P08123	CO1A2_HUMAN	W	708;709	ENSP00000297268:R708W	ENSP00000297268:R708W	R	+	1	2	COL1A2	93887523	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.317000	0.65822	1.586000	0.49944	0.650000	0.86243	CGG		0.448	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		45	126	0	0	0	0	45	126				
PEG10	23089	broad.mit.edu	37	7	94293385	94293385	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:94293385C>T	ENST00000482108.1	+	2	996	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	PEG10_ENST00000488574.1_Missense_Mutation_p.R173C	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	173	Necessary for interaction with ALK1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R173C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CAAGATCAGACGCCTGCGCCA	0.527																																						uc011kie.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	central_nervous_system(1)	1						c.(745-747)CGC>TGC		paternally expressed 10 isoform RF1							139.0	145.0	143.0					7																	94293385		2020	4178	6198	SO:0001583	missense	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94293385C>T	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.517C>T	7.37:g.94293385C>T	ENSP00000417587:p.Arg173Cys						p.R249C	NM_001040152	NP_001035242	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	962	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		173			Necessary for interaction with ALK1.		Q96A68|Q9UPV1	Missense_Mutation	SNP	ENST00000482108.1	37	c.745C>T	CCDS55126.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553777	0.45487	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.13420	2.59;2.59	4.05	4.05	0.47172	Retrotransposon gag protein (1);	.	.	.	.	T	0.10508	0.0257	L	0.29908	0.895	0.31224	N	0.697069	P;P	0.34800	0.469;0.469	B;B	0.30646	0.118;0.118	T	0.04855	-1.0922	9	0.44086	T	0.13	.	11.9358	0.52872	0.0:1.0:0.0:0.0	.	249;173	B4DSP0;Q86TG7	.;PEG10_HUMAN	C	173	ENSP00000417587:R173C;ENSP00000418944:R173C	ENSP00000417587:R173C	R	+	1	0	PEG10	94131321	0.992000	0.36948	0.995000	0.50966	0.591000	0.36615	3.004000	0.49513	2.276000	0.75962	0.555000	0.69702	CGC		0.527	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068		61	229	0	0	0	0	61	229				
PPP1R9A	55607	broad.mit.edu	37	7	94881322	94881322	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:94881322C>G	ENST00000433881.1	+	11	3011	c.2479C>G	c.(2479-2481)Caa>Gaa	p.Q827E	PPP1R9A_ENST00000424654.1_Missense_Mutation_p.Q827E|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.Q827E|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.Q827E|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.Q849E|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.Q827E			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	827	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAATGGGACTCAAGTTAACAA	0.398										HNSCC(28;0.073)																												uc003unp.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(2479-2481)CAA>GAA		protein phosphatase 1, regulatory (inhibitor)							102.0	101.0	101.0					7																	94881322		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94881322C>G	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2479C>G	7.37:g.94881322C>G	ENSP00000398870:p.Gln827Glu	HNSCC(28;0.073)				PPP1R9A_uc010lfj.2_Missense_Mutation_p.Q849E|PPP1R9A_uc011kif.1_Missense_Mutation_p.Q827E|PPP1R9A_uc003unq.2_Missense_Mutation_p.Q827E|PPP1R9A_uc011kig.1_Missense_Mutation_p.Q827E	p.Q827E	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		11	2761	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		827			Interacts with TGN38 (By similarity).		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.2479C>G	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.610156	0.66558	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.15139	2.47;2.48;2.45;2.48;2.46;2.45	4.99	4.99	0.66335	.	0.067070	0.64402	N	0.000010	T	0.32102	0.0818	L	0.42245	1.32	0.52501	D	0.999955	P;D;D;D;B	0.60160	0.913;0.987;0.976;0.984;0.33	P;P;D;D;B	0.68192	0.684;0.897;0.92;0.956;0.132	T	0.02431	-1.1160	10	0.13470	T	0.59	.	18.6539	0.91441	0.0:1.0:0.0:0.0	.	827;827;849;827;827	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	E	849;827;827;827;827;827	ENSP00000405514:Q849E;ENSP00000344524:Q827E;ENSP00000411342:Q827E;ENSP00000398870:Q827E;ENSP00000289495:Q827E;ENSP00000402893:Q827E	ENSP00000289495:Q827E	Q	+	1	0	PPP1R9A	94719258	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	4.603000	0.61105	2.485000	0.83878	0.555000	0.69702	CAA		0.398	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		21	90	0	0	0	0	21	90				
GIGYF1	64599	broad.mit.edu	37	7	100279772	100279772	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:100279772C>T	ENST00000275732.5	-	22	4057	c.2848G>A	c.(2848-2850)Gaa>Aaa	p.E950K	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	950					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCTTTGGCTTCCAGCGTGTCC	0.597																																						uc003uwg.1		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(2848-2850)GAA>AAA		PERQ amino acid rich, with GYF domain 1							68.0	70.0	69.0					7																	100279772		2203	4300	6503	SO:0001583	missense	64599							g.chr7:100279772C>T	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2848G>A	7.37:g.100279772C>T	ENSP00000275732:p.Glu950Lys						p.E950K	NM_022574	NP_072096	O75420	PERQ1_HUMAN			22	3857	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		950					Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.2848G>A	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	21.0	4.083574	0.76642	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	T	0.71222	-0.55	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.84284	0.5438	M	0.81942	2.565	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	D	0.85970	0.1476	10	0.66056	D	0.02	-13.8557	16.146	0.81569	0.0:1.0:0.0:0.0	.	950	O75420	PERQ1_HUMAN	K	669;950	ENSP00000275732:E950K	ENSP00000275732:E950K	E	-	1	0	GIGYF1	100117708	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.651000	0.83577	2.672000	0.90937	0.555000	0.69702	GAA		0.597	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		24	68	0	0	0	0	24	68				
MUC17	140453	broad.mit.edu	37	7	100677779	100677779	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:100677779G>A	ENST00000306151.4	+	3	3146	c.3082G>A	c.(3082-3084)Gaa>Aaa	p.E1028K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1028	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCCACTGCTGAAGGTACCAG	0.517																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(3082-3084)GAA>AAA		mucin 17 precursor							479.0	386.0	417.0					7																	100677779		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677779G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3082G>A	7.37:g.100677779G>A	ENSP00000302716:p.Glu1028Lys					MUC17_uc010lho.1_RNA	p.E1028K	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	3135	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1028			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|15.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3082G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	2.336	-0.352197	0.05173	.	.	ENSG00000169876	ENST00000306151	T	0.02631	4.22	0.74	-1.48	0.08745	.	.	.	.	.	T	0.01387	0.0045	L	0.27053	0.805	0.09310	N	1	P	0.38110	0.618	B	0.28638	0.092	T	0.44205	-0.9343	9	0.06625	T	0.88	.	3.8617	0.08999	0.2112:0.4758:0.313:0.0	.	1028	Q685J3	MUC17_HUMAN	K	1028	ENSP00000302716:E1028K	ENSP00000302716:E1028K	E	+	1	0	MUC17	100464499	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.053000	0.14184	-1.058000	0.03197	0.134000	0.15878	GAA		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		152	419	0	0	0	0	152	419				
MUC17	140453	broad.mit.edu	37	7	100683350	100683350	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:100683350G>A	ENST00000306151.4	+	3	8717	c.8653G>A	c.(8653-8655)Gag>Aag	p.E2885K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2885	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCAGTTCTGAGGCTAGCAC	0.483																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(8653-8655)GAG>AAG		mucin 17 precursor							262.0	272.0	268.0					7																	100683350		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683350G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8653G>A	7.37:g.100683350G>A	ENSP00000302716:p.Glu2885Lys					MUC17_uc010lho.1_RNA	p.E2885K	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	8706	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2885			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|46.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8653G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	7.076	0.569330	0.13560	.	.	ENSG00000169876	ENST00000306151	T	0.02631	4.22	0.885	-1.77	0.07982	.	.	.	.	.	T	0.02807	0.0084	L	0.32530	0.975	0.09310	N	1	P	0.46578	0.88	P	0.50270	0.636	T	0.19582	-1.0301	9	0.06891	T	0.86	.	2.9819	0.05956	0.4636:0.238:0.2984:0.0	.	2885	Q685J3	MUC17_HUMAN	K	2885	ENSP00000302716:E2885K	ENSP00000302716:E2885K	E	+	1	0	MUC17	100470070	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.768000	0.04715	-1.114000	0.02977	0.134000	0.15878	GAG		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		145	425	0	0	0	0	145	425				
MUC17	140453	broad.mit.edu	37	7	100683466	100683466	+	Silent	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:100683466T>C	ENST00000306151.4	+	3	8833	c.8769T>C	c.(8767-8769)ccT>ccC	p.P2923P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2923	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTCAACTCCTAGTGAAGTAA	0.483																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(8767-8769)CCT>CCC		mucin 17 precursor							230.0	234.0	233.0					7																	100683466		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683466T>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8769T>C	7.37:g.100683466T>C						MUC17_uc010lho.1_RNA	p.P2923P	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	8822	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2923			Extracellular (Potential).|47.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.8769T>C	CCDS34711.1																																																																																				0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		154	355	0	0	0	0	154	355				
MUC17	140453	broad.mit.edu	37	7	100684033	100684033	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:100684033C>G	ENST00000306151.4	+	3	9400	c.9336C>G	c.(9334-9336)gtC>gtG	p.V3112V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3112	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGTGCCTGTCAGCACCACAC	0.493																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(9334-9336)GTC>GTG		mucin 17 precursor							283.0	288.0	286.0					7																	100684033		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684033C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9336C>G	7.37:g.100684033C>G						MUC17_uc010lho.1_RNA	p.V3112V	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	9389	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3112			Extracellular (Potential).|Ser-rich.|50.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.9336C>G	CCDS34711.1																																																																																				0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		157	397	0	0	0	0	157	397				
NAT16	375607	broad.mit.edu	37	7	100815677	100815677	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:100815677C>G	ENST00000300303.2	-	4	1031	c.793G>C	c.(793-795)Gag>Cag	p.E265Q	NAT16_ENST00000455377.1_Missense_Mutation_p.E265Q	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	265							N-acetyltransferase activity (GO:0008080)										ACGCGCCACTCCAGGCCCTTG	0.711																																						uc003uxy.1		NA																	0				ovary(1)	1						c.(793-795)GAG>CAG		hypothetical protein LOC375607							6.0	7.0	6.0					7																	100815677		2101	4145	6246	SO:0001583	missense	375607						N-acetyltransferase activity	g.chr7:100815677C>G	AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"""chromosome 7 open reading frame 52"""	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.793G>C	7.37:g.100815677C>G	ENSP00000300303:p.Glu265Gln					C7orf52_uc003uxz.1_Missense_Mutation_p.E265Q	p.E265Q	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN			4	1032	-	Lung NSC(181;0.168)|all_lung(186;0.215)		265					B3KRS2|Q8NDR1	Missense_Mutation	SNP	ENST00000300303.2	37	c.793G>C	CCDS5713.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.443176	0.25987	.	.	ENSG00000167011	ENST00000300303;ENST00000455377	T;T	0.44083	0.93;0.93	4.15	0.655	0.17839	.	0.280561	0.27645	U	0.018448	T	0.24736	0.0600	L	0.36672	1.1	0.25640	N	0.986211	B	0.32160	0.358	B	0.33042	0.157	T	0.13072	-1.0523	10	0.13853	T	0.58	.	4.5873	0.12289	0.5073:0.3657:0.0:0.127	.	265	Q8N8M0	CG052_HUMAN	Q	265	ENSP00000300303:E265Q;ENSP00000395125:E265Q	ENSP00000300303:E265Q	E	-	1	0	C7orf52	100602397	0.070000	0.21116	0.163000	0.22734	0.994000	0.84299	0.002000	0.13061	0.318000	0.23185	0.456000	0.33151	GAG		0.711	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347465.1	NM_198571		3	10	0	0	0	0	3	10				
PRKRIP1	79706	broad.mit.edu	37	7	102047920	102047920	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:102047920G>A	ENST00000496391.1	+	9	1742	c.432G>A	c.(430-432)atG>atA	p.M144I	MIR548O_ENST00000408583.1_RNA|PRKRIP1_ENST00000397912.3_Missense_Mutation_p.M144I|PRKRIP1_ENST00000462601.1_Missense_Mutation_p.M87I|PRKRIP1_ENST00000354783.4_Intron|PRKRIP1_ENST00000482465.1_3'UTR			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	144					negative regulation of phosphorylation (GO:0042326)|negative regulation of protein kinase activity (GO:0006469)|renal system process (GO:0003014)	extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|lung(4)|ovary(1)	6						CAAAGAAGATGAAACTTGAAC	0.353																																						uc003uzh.2		NA																	0				ovary(1)	1						c.(430-432)ATG>ATA		PRKR interacting protein 1 (IL11 inducible)							99.0	99.0	99.0					7																	102047920		2203	4300	6503	SO:0001583	missense	79706					nucleolus		g.chr7:102047920G>A	AK023964	CCDS34714.1	7q22.1	2013-01-09			ENSG00000128563	ENSG00000128563		"""Zinc fingers, C2H2-type"", ""-"""	21894	protein-coding gene	gene with protein product	"""likely ortholog of mouse C114 dsRNA-binding protein"", ""KRAB box domain containing 3"""					12679338	Standard	NM_024653		Approved	C114, FLJ13902, KRBOX3	uc003uzh.2	Q9H875	OTTHUMG00000157717	ENST00000496391.1:c.432G>A	7.37:g.102047920G>A	ENSP00000419270:p.Met144Ile					PRKRIP1_uc003uzf.2_Missense_Mutation_p.M93I|PRKRIP1_uc003uzg.2_Missense_Mutation_p.M93I|PRKRIP1_uc011kkq.1_Missense_Mutation_p.M87I|PRKRIP1_uc011kkr.1_Intron|MIR548O_hsa-mir-548o|MI0006402_5'Flank	p.M144I	NM_024653	NP_078929	Q9H875	PKRI1_HUMAN			5	487	+			144			Potential.		B4DGM2|Q8NDM6|Q96CF8	Missense_Mutation	SNP	ENST00000496391.1	37	c.432G>A	CCDS34714.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998587	0.35226	.	.	ENSG00000128563	ENST00000496391;ENST00000462601;ENST00000397912	T;T;T	0.41065	1.01;1.01;1.01	5.53	3.43	0.39272	.	0.291713	0.41938	N	0.000794	T	0.27798	0.0684	L	0.29908	0.895	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.08249	-1.0731	10	0.38643	T	0.18	-22.655	7.6328	0.28249	0.0:0.1575:0.6076:0.2349	.	87;144	E9PC43;Q9H875	.;PKRI1_HUMAN	I	144;87;144	ENSP00000419270:M144I;ENSP00000420136:M87I;ENSP00000381010:M144I	ENSP00000381010:M144I	M	+	3	0	PRKRIP1	101834925	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.934000	0.28910	1.443000	0.47586	-0.176000	0.13171	ATG		0.353	PRKRIP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349489.1	NM_024653		19	36	0	0	0	0	19	36				
SLC26A5	375611	broad.mit.edu	37	7	103014907	103014907	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:103014907G>A	ENST00000306312.3	-	20	2435	c.2174C>T	c.(2173-2175)tCg>tTg	p.S725L	SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.S158L|SLC26A5_ENST00000393723.1_Missense_Mutation_p.S695L|SLC26A5_ENST00000432958.2_Missense_Mutation_p.S693L|SLC26A5_ENST00000393729.1_Missense_Mutation_p.S688L|SLC26A5_ENST00000393730.1_Missense_Mutation_p.S693L|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393727.1_Missense_Mutation_p.S727L	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	725					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AGGGGGAGCCGAGGCTTCCTG	0.532																																						uc003vbz.2		NA																	0				ovary(1)	1						c.(2173-2175)TCG>TTG		prestin isoform a							75.0	68.0	71.0					7																	103014907		2203	4300	6503	SO:0001583	missense	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103014907G>A	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.2174C>T	7.37:g.103014907G>A	ENSP00000304783:p.Ser725Leu					SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.S693L|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	p.S725L	NM_198999	NP_945350	P58743	S26A5_HUMAN			20	2410	-			725			Cytoplasmic (Potential).		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	c.2174C>T	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893794	0.33442	.	.	ENSG00000170615	ENST00000306312;ENST00000393730;ENST00000432958;ENST00000354356;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D	0.95447	-3.18;-3.15;-3.15;-3.71;-3.11;-3.18;-3.15	5.69	-0.075	0.13728	.	1.210890	0.05671	N	0.588719	D	0.88213	0.6376	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.77670	-0.2501	10	0.30854	T	0.27	.	8.0882	0.30784	0.6242:0.0:0.3758:0.0	.	725;693	P58743;Q496J2	S26A5_HUMAN;.	L	725;693;693;158;688;727;695	ENSP00000304783:S725L;ENSP00000377331:S693L;ENSP00000389733:S693L;ENSP00000346325:S158L;ENSP00000377330:S688L;ENSP00000377328:S727L;ENSP00000377324:S695L	ENSP00000304783:S725L	S	-	2	0	SLC26A5	102802143	.	.	0.000000	0.03702	0.034000	0.12701	.	.	0.039000	0.15632	-0.741000	0.03529	TCG		0.532	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		26	68	0	0	0	0	26	68				
RINT1	60561	broad.mit.edu	37	7	105189098	105189098	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:105189098C>G	ENST00000257700.2	+	7	1168	c.937C>G	c.(937-939)Ctt>Gtt	p.L313V		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	313	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCTGACTCCTCTTCAGAAGAG	0.463																																						uc003vda.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(937-939)CTT>GTT		RAD50 interactor 1							188.0	173.0	178.0					7																	105189098		2203	4300	6503	SO:0001583	missense	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105189098C>G	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.937C>G	7.37:g.105189098C>G	ENSP00000257700:p.Leu313Val					RINT1_uc010ljj.1_Intron	p.L313V	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN			7	1168	+			313			RINT1/TIP20.		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	c.937C>G	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069238	0.55539	.	.	ENSG00000135249	ENST00000257700	T	0.38401	1.14	5.93	5.93	0.95920	.	0.254610	0.40222	N	0.001144	T	0.53932	0.1827	M	0.73962	2.25	0.50039	D	0.999849	D	0.54047	0.964	P	0.50970	0.655	T	0.53620	-0.8413	10	0.51188	T	0.08	-11.0941	20.3226	0.98684	0.0:1.0:0.0:0.0	.	313	Q6NUQ1	RINT1_HUMAN	V	313	ENSP00000257700:L313V	ENSP00000257700:L313V	L	+	1	0	RINT1	104976334	1.000000	0.71417	0.999000	0.59377	0.843000	0.47879	3.985000	0.56930	2.805000	0.96524	0.650000	0.86243	CTT		0.463	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		5	349	0	0	0	0	5	349				
CDHR3	222256	broad.mit.edu	37	7	105624678	105624678	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:105624678C>T	ENST00000317716.9	+	4	536	c.456C>T	c.(454-456)ttC>ttT	p.F152F	CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000478080.1_Silent_p.F64F|CDHR3_ENST00000542731.1_Silent_p.F152F|CDHR3_ENST00000541203.1_Intron|CDHR3_ENST00000343407.5_5'UTR	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	152	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						ACCCTGGATTCATTTACCAGG	0.438																																						uc003vdl.3		NA																	0				ovary(1)	1						c.(454-456)TTC>TTT		hypothetical protein LOC222256 precursor							69.0	68.0	68.0					7																	105624678		1880	4111	5991	SO:0001819	synonymous_variant	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105624678C>T	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.456C>T	7.37:g.105624678C>T						CDHR3_uc003vdk.2_5'UTR|CDHR3_uc011kls.1_Intron|CDHR3_uc003vdm.3_Silent_p.F139F|CDHR3_uc011klt.1_Silent_p.F64F	p.F152F	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN			4	564	+			152			Cadherin 2.|Extracellular (Potential).		Q8TCI7	Silent	SNP	ENST00000317716.9	37	c.456C>T	CCDS47684.1																																																																																				0.438	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		8	45	0	0	0	0	8	45				
THAP5	168451	broad.mit.edu	37	7	108204874	108204874	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:108204874C>G	ENST00000415914.3	-	3	1102	c.949G>C	c.(949-951)Gtt>Ctt	p.V317L	THAP5_ENST00000493722.1_5'UTR|THAP5_ENST00000313516.5_Missense_Mutation_p.V275L	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	317					cell cycle (GO:0007049)|negative regulation of cell cycle (GO:0045786)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protease binding (GO:0002020)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						ATTTGTAAAACTTCTGTCCCA	0.348																																						uc003vfm.2		NA																	0					0						c.(949-951)GTT>CTT		THAP domain containing 5 isoform 1							119.0	118.0	118.0					7																	108204874		2203	4300	6503	SO:0001583	missense	168451				cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding	g.chr7:108204874C>G	AL833137	CCDS34734.2, CCDS47687.1	7q22.3	2013-01-25			ENSG00000177683	ENSG00000177683		"""THAP (C2CH-type zinc finger) domain containing"""	23188	protein-coding gene	gene with protein product		612534				12575992	Standard	NM_001287598		Approved	DKFZp313O1132	uc003vfm.3	Q7Z6K1	OTTHUMG00000154951	ENST00000415914.3:c.949G>C	7.37:g.108204874C>G	ENSP00000400500:p.Val317Leu					THAP5_uc003vfl.2_Missense_Mutation_p.V275L	p.V317L	NM_001130475	NP_001123947	Q7Z6K1	THAP5_HUMAN			3	1103	-			317						Missense_Mutation	SNP	ENST00000415914.3	37	c.949G>C	CCDS47687.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.188036	0.38609	.	.	ENSG00000177683	ENST00000415914;ENST00000313516	D;D	0.96587	-4.06;-2.57	4.45	2.59	0.31030	.	0.244803	0.21180	N	0.078824	D	0.88607	0.6482	N	0.19112	0.55	0.80722	D	1	B	0.30584	0.286	B	0.20577	0.03	T	0.82434	-0.0459	9	.	.	.	.	5.1683	0.15098	0.0:0.5862:0.0:0.4138	.	317	Q7Z6K1	THAP5_HUMAN	L	317;275	ENSP00000400500:V317L;ENSP00000322440:V275L	.	V	-	1	0	THAP5	107992110	0.992000	0.36948	0.965000	0.40720	0.981000	0.71138	0.265000	0.18515	0.989000	0.38761	0.650000	0.86243	GTT		0.348	THAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337777.2	NM_182529		54	191	0	0	0	0	54	191				
CFTR	1080	broad.mit.edu	37	7	117243763	117243763	+	Silent	SNP	G	G	A	rs193922513		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:117243763G>A	ENST00000003084.6	+	17	2967	c.2835G>A	c.(2833-2835)tcG>tcA	p.S945S	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Silent_p.S884S	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	945	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.S945S(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TCACAGTGTCGAAAATTTTAC	0.398									Cystic Fibrosis				G|||	1	0.000199681	0.0	0.0	5008	,	,		21248	0.0		0.0	False		,,,				2504	0.001					uc003vjd.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	central_nervous_system(2)|skin(2)|ovary(1)	5						c.(2833-2835)TCG>TCA		cystic fibrosis transmembrane conductance	Bumetanide(DB00887)|Glibenclamide(DB01016)						165.0	153.0	157.0					7																	117243763		2203	4300	6503	SO:0001819	synonymous_variant	1080	Cystic_Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117243763G>A	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2835G>A	7.37:g.117243763G>A						CFTR_uc011knq.1_Silent_p.S351S	p.S945S	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		17	2967	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		945			Cytoplasmic (Potential).|ABC transmembrane type-1 2.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Silent	SNP	ENST00000003084.6	37	c.2835G>A	CCDS5773.1																																																																																				0.398	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		49	118	0	0	0	0	49	118				
KCND2	3751	broad.mit.edu	37	7	119915729	119915729	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:119915729G>T	ENST00000331113.4	+	1	2008	c.1043G>T	c.(1042-1044)gGg>gTg	p.G348V		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	348					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GCAGAGAAGGGGTCTTCGGCT	0.493																																						uc003vjj.1		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1042-1044)GGG>GTG		potassium voltage-gated channel, Shal-related							151.0	121.0	131.0					7																	119915729		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915729G>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1043G>T	7.37:g.119915729G>T	ENSP00000333496:p.Gly348Val						p.G348V	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			1	2008	+	all_neural(327;0.117)		348					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.1043G>T	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013567	0.75161	.	.	ENSG00000184408	ENST00000331113	D	0.98889	-5.21	5.4	5.4	0.78164	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98861	0.9615	M	0.83012	2.62	0.80722	D	1	P	0.38745	0.645	P	0.50537	0.643	D	0.99437	1.0937	9	.	.	.	.	19.5371	0.95257	0.0:0.0:1.0:0.0	.	348	Q9NZV8	KCND2_HUMAN	V	348	ENSP00000333496:G348V	.	G	+	2	0	KCND2	119702965	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.009000	0.88606	2.706000	0.92434	0.557000	0.71058	GGG		0.493	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		36	145	1	0	9.86e-28	1.06e-27	36	145				
TRIM24	8805	broad.mit.edu	37	7	138235861	138235861	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:138235861G>A	ENST00000343526.4	+	8	1412	c.1197G>A	c.(1195-1197)gtG>gtA	p.V399V	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Silent_p.V399V			O15164	TIF1A_HUMAN	tripartite motif containing 24	399					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CATCCCCAGTGACCAACAACA	0.403																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	uc003vuc.2		NA																	0				central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						c.(1195-1197)GTG>GTA		transcriptional intermediary factor 1 alpha							244.0	210.0	221.0					7																	138235861		2203	4300	6503	SO:0001819	synonymous_variant	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138235861G>A	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.1197G>A	7.37:g.138235861G>A						TRIM24_uc003vub.2_Silent_p.V399V	p.V399V	NM_015905	NP_056989	O15164	TIF1A_HUMAN			8	1412	+			399					A4D1R7|A4D1R8|O95854	Silent	SNP	ENST00000343526.4	37	c.1197G>A	CCDS5847.1																																																																																				0.403	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		42	154	0	0	0	0	42	154				
TBXAS1	6916	broad.mit.edu	37	7	139572057	139572057	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:139572057G>C	ENST00000455353.1	+	2	250	c.113G>C	c.(112-114)aGa>aCa	p.R38T	TBXAS1_ENST00000425687.1_5'UTR|TBXAS1_ENST00000448866.1_Missense_Mutation_p.R38T|TBXAS1_ENST00000539806.1_Missense_Mutation_p.R39T|TBXAS1_ENST00000462275.1_Intron|TBXAS1_ENST00000436047.2_Missense_Mutation_p.R39T|TBXAS1_ENST00000414508.2_Missense_Mutation_p.R39T|TBXAS1_ENST00000336425.5_Missense_Mutation_p.R38T|TBXAS1_ENST00000458722.1_Missense_Mutation_p.R38T|TBXAS1_ENST00000263552.6_Missense_Mutation_p.R39T|TBXAS1_ENST00000416849.2_Missense_Mutation_p.R39T|TBXAS1_ENST00000411653.1_Missense_Mutation_p.R38T			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	38					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	GCATTCTCAAGACTGGAGAAG	0.443																																						uc011kqv.1		NA																	0				ovary(2)|breast(1)	3						c.(115-117)AGA>ACA		thromboxane A synthase 1, platelet isoform							164.0	144.0	151.0					7																	139572057		2203	4300	6503	SO:0001583	missense	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139572057G>C	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000455353.1:c.113G>C	7.37:g.139572057G>C	ENSP00000391567:p.Arg38Thr					TBXAS1_uc003vvh.2_Missense_Mutation_p.R39T|TBXAS1_uc010lne.2_5'UTR|TBXAS1_uc011kqu.1_Intron|TBXAS1_uc003vvi.2_Missense_Mutation_p.R39T|TBXAS1_uc003vvj.2_Missense_Mutation_p.R39T|TBXAS1_uc011kqw.1_Missense_Mutation_p.K9N|TBXAS1_uc011kqx.1_Missense_Mutation_p.R39T	p.R39T	NM_001130966	NP_001124438	P24557	THAS_HUMAN			2	280	+	Melanoma(164;0.0142)		38			Lumenal (Potential).		B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000455353.1	37	c.116G>C		.	.	.	.	.	.	.	.	.	.	G	11.59	1.684560	0.29872	.	.	ENSG00000059377	ENST00000263552;ENST00000438104;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000455353;ENST00000458722;ENST00000411653;ENST00000539806	T;T;T;T;T;T;T;T;T;T;T	0.06142	3.34;3.34;3.34;3.34;3.34;3.34;3.34;3.34;3.34;3.34;3.34	4.69	2.79	0.32731	.	0.650864	0.14644	N	0.306999	T	0.04227	0.0117	N	0.19112	0.55	0.25967	N	0.982548	B;B;B;B;B	0.12630	0.006;0.002;0.0;0.001;0.001	B;B;B;B;B	0.09377	0.004;0.003;0.002;0.002;0.002	T	0.37820	-0.9689	10	0.31617	T	0.26	.	7.1436	0.25570	0.0964:0.1764:0.7272:0.0	.	39;39;39;39;38	B7Z6W1;E7EP08;E7EMU9;Q53F23;P24557	.;.;.;.;THAS_HUMAN	T	39;38;38;39;39;39;38;38;38;38;39	ENSP00000263552:R39T;ENSP00000388612:R38T;ENSP00000338087:R38T;ENSP00000389414:R39T;ENSP00000392361:R39T;ENSP00000392702:R39T;ENSP00000402536:R38T;ENSP00000391567:R38T;ENSP00000411274:R38T;ENSP00000411326:R38T;ENSP00000444626:R39T	ENSP00000263552:R39T	R	+	2	0	TBXAS1	139218526	0.564000	0.26602	0.935000	0.37517	0.948000	0.59901	1.126000	0.31344	1.068000	0.40764	0.557000	0.71058	AGA		0.443	TBXAS1-008	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000348380.1			62	162	0	0	0	0	62	162				
MGAM	8972	broad.mit.edu	37	7	141752582	141752582	+	Splice_Site	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:141752582A>G	ENST00000549489.2	+	26	3053		c.e26-1		MGAM_ENST00000475668.2_Splice_Site	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTTACTTTTCAGGCATCCAAT	0.398																																						uc003vwy.2		NA																	0				ovary(2)	2						c.e26-2		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						104.0	93.0	97.0					7																	141752582		1834	4082	5916	SO:0001630	splice_region_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141752582A>G	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2959-1A>G	7.37:g.141752582A>G							p.A987_splice	NM_004668	NP_004659	O43451	MGA_HUMAN			26	3013	+	Melanoma(164;0.0272)							Q0VAX6|Q75ME7|Q86UM5	Splice_Site	SNP	ENST00000549489.2	37	c.2959_splice	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	A	12.64	1.997921	0.35226	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2911	0.49250	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MGAM	141399051	1.000000	0.71417	0.105000	0.21289	0.143000	0.21401	6.414000	0.73318	1.533000	0.49186	0.377000	0.23210	.		0.398	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		Intron	3	173	0	0	0	0	3	173				
FAM115A	9747	broad.mit.edu	37	7	143573509	143573509	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:143573509C>T	ENST00000479870.1	-	2	401	c.193G>A	c.(193-195)Gag>Aag	p.E65K	FAM115A_ENST00000392900.3_Intron|FAM115A_ENST00000355951.2_Missense_Mutation_p.E65K	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	65										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					AAGTAGTCCTCATGGGACACG	0.587																																						uc003wdo.1		NA																	0					0						c.(193-195)GAG>AAG		hypothetical protein LOC9747							73.0	61.0	65.0					7																	143573509		2203	4300	6503	SO:0001583	missense	9747							g.chr7:143573509C>T	AB018281	CCDS5886.1, CCDS56514.1	7q35	2011-05-03	2006-03-23	2006-03-23	ENSG00000198420	ENSG00000198420			22201	protein-coding gene	gene with protein product						9872452	Standard	NM_014719		Approved	KIAA0738	uc003wdo.2	Q9Y4C2	OTTHUMG00000157773	ENST00000479870.1:c.193G>A	7.37:g.143573509C>T	ENSP00000419235:p.Glu65Lys					FAM115A_uc011ktu.1_Intron|FAM115A_uc003wdp.1_Missense_Mutation_p.E65K	p.E65K	NM_014719	NP_055534	Q9Y4C2	F115A_HUMAN			2	326	-	Melanoma(164;0.0903)		65					A8K6E0|Q75KM8|Q75KM9|Q7L665|Q9BW63	Missense_Mutation	SNP	ENST00000479870.1	37	c.193G>A	CCDS5886.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674169	0.88445	.	.	ENSG00000198420	ENST00000479870;ENST00000355951;ENST00000460532;ENST00000491908;ENST00000478172;ENST00000485416	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.70675	0.3251	M	0.86028	2.79	0.52099	D	0.999949	D	0.89917	1.0	D	0.91635	0.999	T	0.76454	-0.2953	10	0.87932	D	0	-20.9896	14.4166	0.67155	0.0:1.0:0.0:0.0	.	65	Q9Y4C2	F115A_HUMAN	K	65	ENSP00000419235:E65K;ENSP00000348220:E65K;ENSP00000420607:E65K;ENSP00000417600:E65K;ENSP00000419622:E65K;ENSP00000418432:E65K	ENSP00000348220:E65K	E	-	1	0	FAM115A	143204442	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	7.051000	0.76627	2.526000	0.85167	0.585000	0.79938	GAG		0.587	FAM115A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349583.1	NM_014719		16	58	0	0	0	0	16	58				
TPK1	27010	broad.mit.edu	37	7	144288620	144288620	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:144288620C>T	ENST00000360057.3	-	7	499	c.397G>A	c.(397-399)Gac>Aac	p.D133N	TPK1_ENST00000549981.1_Missense_Mutation_p.D16N|TPK1_ENST00000378099.3_Intron|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Intron	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	133					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATAATCTGGTCAAAACGCCCA	0.428																																					Ovarian(45;88 1034 2073 5829 28455)	uc003weq.2		NA																	0				ovary(2)	2						c.(397-399)GAC>AAC		thiamin pyrophosphokinase 1 isoform a	Thiamine(DB00152)						100.0	98.0	99.0					7																	144288620		2203	4300	6503	SO:0001583	missense	27010				thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	g.chr7:144288620C>T	AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.397G>A	7.37:g.144288620C>T	ENSP00000353165:p.Asp133Asn					TPK1_uc003weo.2_Intron|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Intron|TPK1_uc003wes.2_RNA	p.D133N	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN			7	500	-			133					A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	37	c.397G>A	CCDS5888.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000944	0.93227	.	.	ENSG00000196511	ENST00000360057;ENST00000549981;ENST00000552881	D;D	0.96104	-3.91;-3.91	5.78	4.9	0.64082	Thiamin pyrophosphokinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.98548	0.9515	H	0.97829	4.085	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99050	1.0827	10	0.87932	D	0	-26.7945	12.7335	0.57210	0.0:0.9206:0.0:0.0794	.	133	Q9H3S4	TPK1_HUMAN	N	133;16;133	ENSP00000353165:D133N;ENSP00000448655:D133N	ENSP00000353165:D133N	D	-	1	0	TPK1	143919553	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.474000	0.73578	1.466000	0.48025	0.655000	0.94253	GAC		0.428	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445		35	118	0	0	0	0	35	118				
ZNF282	8427	broad.mit.edu	37	7	148895519	148895519	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:148895519G>A	ENST00000262085.3	+	2	365	c.260G>A	c.(259-261)cGa>cAa	p.R87Q	ZNF282_ENST00000479907.1_Missense_Mutation_p.R87Q	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	87					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CGCATGATGCGAGAGCCCCAG	0.602																																						uc003wfm.2		NA																	0					0						c.(259-261)CGA>CAA		zinc finger protein 282							51.0	49.0	50.0					7																	148895519		2203	4300	6503	SO:0001583	missense	8427				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148895519G>A	D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"""Zinc fingers, C2H2-type"", ""-"""	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.260G>A	7.37:g.148895519G>A	ENSP00000262085:p.Arg87Gln					ZNF282_uc011kun.1_Missense_Mutation_p.R87Q|ZNF282_uc003wfn.2_Missense_Mutation_p.R27Q|ZNF282_uc003wfo.2_Missense_Mutation_p.R27Q	p.R87Q	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	2	365	+	Melanoma(164;0.15)		87					B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	37	c.260G>A	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199708	0.58126	.	.	ENSG00000170265	ENST00000430197;ENST00000262085;ENST00000479907	T;T	0.07327	3.2;4.95	4.26	4.26	0.50523	.	0.000000	0.42420	D	0.000705	T	0.15132	0.0365	N	0.24115	0.695	0.32569	N	0.53008	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	P;D;D;D	0.70227	0.788;0.968;0.968;0.968	T	0.05084	-1.0907	10	0.54805	T	0.06	-13.2633	12.5196	0.56052	0.0:0.0:1.0:0.0	.	87;38;59;87	B4DRI5;Q86YG2;Q7Z2V4;Q9UDV7	.;.;.;ZN282_HUMAN	Q	2;87;87	ENSP00000262085:R87Q;ENSP00000418840:R87Q	ENSP00000262085:R87Q	R	+	2	0	ZNF282	148526452	0.968000	0.33430	0.973000	0.42090	0.862000	0.49288	2.374000	0.44274	2.096000	0.63516	0.313000	0.20887	CGA		0.602	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575		24	84	0	0	0	0	24	84				
ZNF777	27153	broad.mit.edu	37	7	149152780	149152780	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:149152780C>G	ENST00000247930.4	-	2	657	c.334G>C	c.(334-336)Gaa>Caa	p.E112Q		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	112					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(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			ACTTCTTGTTCAGCAGCAGCT	0.612																																						uc003wfv.2		NA																	0				skin(1)	1						c.(334-336)GAA>CAA		zinc finger protein 777							72.0	84.0	80.0					7																	149152780		1877	4088	5965	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149152780C>G	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.334G>C	7.37:g.149152780C>G	ENSP00000247930:p.Glu112Gln						p.E112Q	NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		2	497	-	Melanoma(164;0.165)		112					Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.334G>C	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014197	0.35511	.	.	ENSG00000196453	ENST00000247930	T	0.05717	3.4	4.66	4.66	0.58398	.	0.604283	0.13785	N	0.362955	T	0.05777	0.0151	N	0.24115	0.695	0.19575	N	0.999962	B	0.25609	0.13	B	0.23018	0.043	T	0.32161	-0.9917	10	0.36615	T	0.2	0.4057	13.0836	0.59127	0.0:1.0:0.0:0.0	.	112	Q9ULD5-2	.	Q	112	ENSP00000247930:E112Q	ENSP00000247930:E112Q	E	-	1	0	ZNF777	148783713	0.355000	0.24921	0.231000	0.23993	0.844000	0.47949	3.755000	0.55197	2.146000	0.66826	0.462000	0.41574	GAA		0.612	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		8	225	0	0	0	0	8	225				
ZNF746	155061	broad.mit.edu	37	7	149171704	149171704	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:149171704G>A	ENST00000340622.3	-	7	1986	c.1706C>T	c.(1705-1707)aCc>aTc	p.T569I	ZNF746_ENST00000458143.2_Missense_Mutation_p.T570I			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	569					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GCCGCAGACGGTGCAGGTGAA	0.672																																						uc003wfw.2		NA																	0				ovary(2)|breast(1)	3						c.(1705-1707)ACC>ATC		zinc finger protein 746 isoform 2							54.0	39.0	44.0					7																	149171704		2203	4300	6503	SO:0001583	missense	155061				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr7:149171704G>A	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.1706C>T	7.37:g.149171704G>A	ENSP00000345140:p.Thr569Ile					ZNF746_uc010lpi.2_Missense_Mutation_p.T570I	p.T569I	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		7	1977	-	Melanoma(164;0.165)		569			C2H2-type 4.		A8K6Z9|Q6ZRF9	Missense_Mutation	SNP	ENST00000340622.3	37	c.1706C>T	CCDS5897.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440032	0.43326	.	.	ENSG00000181220	ENST00000340622;ENST00000458143	T;T	0.07688	3.17;3.17	5.58	4.7	0.59300	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.611202	0.14761	N	0.299977	T	0.07818	0.0196	L	0.33753	1.03	0.09310	N	0.999999	B;B	0.26400	0.148;0.034	B;B	0.25759	0.032;0.063	T	0.19257	-1.0311	10	0.35671	T	0.21	-22.563	11.4838	0.50342	0.0863:0.0:0.9137:0.0	.	570;569	Q6NUN9-2;Q6NUN9	.;ZN746_HUMAN	I	569;570	ENSP00000345140:T569I;ENSP00000395007:T570I	ENSP00000345140:T569I	T	-	2	0	ZNF746	148802637	0.029000	0.19370	0.992000	0.48379	0.532000	0.34746	2.097000	0.41748	2.630000	0.89119	0.462000	0.41574	ACC		0.672	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557		5	20	0	0	0	0	5	20				
GBX1	2636	broad.mit.edu	37	7	150845891	150845891	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:150845891G>C	ENST00000297537.4	-	2	876	c.877C>G	c.(877-879)Cag>Gag	p.Q293E	GBX1_ENST00000475831.1_5'Flank	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	293					adult walking behavior (GO:0007628)|neuron fate commitment (GO:0048663)|proprioception (GO:0019230)|regulation of transcription, DNA-templated (GO:0006355)|sensory neuron axon guidance (GO:0097374)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGGCGATCTGAGAGCGCTCT	0.532																																						uc011kvg.1		NA																	0					0						c.(877-879)CAG>GAG		gastrulation brain homeo box 1							69.0	75.0	73.0					7																	150845891		2175	4281	6456	SO:0001583	missense	2636					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:150845891G>C	L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900		"""Homeoboxes / ANTP class : HOXL subclass"""	4185	protein-coding gene	gene with protein product		603354	"""gastrulation brain homeo box 1"""			7903253	Standard	NM_001098834		Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.877C>G	7.37:g.150845891G>C	ENSP00000297537:p.Gln293Glu						p.Q293E	NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	1109	-			293			Homeobox.			Missense_Mutation	SNP	ENST00000297537.4	37	c.877C>G	CCDS43682.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374009	0.61735	.	.	ENSG00000164900	ENST00000297537	D	0.95690	-3.78	4.83	4.83	0.62350	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.85423	0.5693	N	0.00360	-1.595	0.80722	D	1	B	0.32968	0.392	B	0.44224	0.444	D	0.85215	0.1023	10	0.02654	T	1	-35.5643	16.6534	0.85222	0.0:0.0:1.0:0.0	.	293	Q14549	GBX1_HUMAN	E	293	ENSP00000297537:Q293E	ENSP00000297537:Q293E	Q	-	1	0	GBX1	150476824	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	7.776000	0.85560	2.532000	0.85374	0.591000	0.81541	CAG		0.532	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1			38	91	0	0	0	0	38	91				
ABCF2	10061	broad.mit.edu	37	7	150916225	150916225	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:150916225C>T	ENST00000287844.2	-	8	1051	c.942G>A	c.(940-942)gtG>gtA	p.V314V	ABCF2_ENST00000473874.1_5'UTR|ABCF2_ENST00000222388.2_Silent_p.V314V	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	314	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCGCGTCTTCACGTACTGAT	0.502																																						uc003wjp.2		NA																	0				central_nervous_system(1)	1						c.(940-942)GTG>GTA		ATP-binding cassette, sub-family F, member 2							181.0	158.0	166.0					7																	150916225		2203	4300	6503	SO:0001819	synonymous_variant	10061					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity	g.chr7:150916225C>T	AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"""ATP binding cassette transporters / subfamily F"""	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.942G>A	7.37:g.150916225C>T						ABCF2_uc003wjo.1_Silent_p.V314V	p.V314V	NM_007189	NP_009120	Q9UG63	ABCF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	8	1053	-			314			ABC transporter 1.		O60864|Q75MJ0|Q75MJ1|Q96TE8	Silent	SNP	ENST00000287844.2	37	c.942G>A	CCDS5923.1																																																																																				0.502	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692		71	201	0	0	0	0	71	201				
NOM1	64434	broad.mit.edu	37	7	156746954	156746954	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:156746954C>T	ENST00000275820.3	+	3	1285	c.1270C>T	c.(1270-1272)Ctc>Ttc	p.L424F	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	424	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GGAGCATGTTCTCTTAGTCAG	0.502																																						uc003wmy.2		NA																	0					0						c.(1270-1272)CTC>TTC		nucleolar protein with MIF4G domain 1							134.0	101.0	112.0					7																	156746954		2203	4300	6503	SO:0001583	missense	64434				RNA metabolic process	nucleolus	protein binding	g.chr7:156746954C>T	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1270C>T	7.37:g.156746954C>T	ENSP00000275820:p.Leu424Phe						p.L424F	NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	3	1285	+	Ovarian(565;0.218)	all_hematologic(28;0.0749)	424			MIF4G.		Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	c.1270C>T	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	c	10.19	1.282807	0.23392	.	.	ENSG00000146909	ENST00000275820	T	0.22539	1.95	4.63	1.75	0.24633	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.149046	0.46442	N	0.000285	T	0.26340	0.0643	M	0.84219	2.685	0.43054	D	0.994668	B	0.25441	0.126	B	0.32289	0.143	T	0.02942	-1.1091	10	0.30078	T	0.28	-3.737	7.4469	0.27217	0.0:0.7087:0.1375:0.1538	.	424	Q5C9Z4	NOM1_HUMAN	F	424	ENSP00000275820:L424F	ENSP00000275820:L424F	L	+	1	0	NOM1	156439715	0.993000	0.37304	0.021000	0.16686	0.164000	0.22412	2.101000	0.41787	0.067000	0.16545	-0.232000	0.12228	CTC		0.502	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400		13	61	0	0	0	0	13	61				
MNX1	3110	broad.mit.edu	37	7	156802973	156802973	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:156802973C>G	ENST00000252971.6	-	1	372	c.72G>C	c.(70-72)caG>caC	p.Q24H	MNX1_ENST00000543409.1_5'Flank|MNX1-AS1_ENST00000480284.1_RNA|MNX1_ENST00000469500.1_5'Flank	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	24				DALLAVDPPRAASAQSAPLALVTSLAAA -> EPCWRWTPH EPPLAERALAKVTSPPVP (in Ref. 1; AAB60647). {ECO:0000305}.	anatomical structure morphogenesis (GO:0009653)|diaphragm development (GO:0060539)|dorsal/ventral neural tube patterning (GO:0021904)|endocrine pancreas development (GO:0031018)|humoral immune response (GO:0006959)|motor neuron axon guidance (GO:0008045)|nerve development (GO:0021675)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGGCGCGCTCTGCGCAGAGG	0.726																																						uc003wnd.1		NA																	0					0						c.(70-72)CAG>CAC		motor neuron and pancreas homeobox 1 isoform 1							5.0	7.0	6.0					7																	156802973		1478	2954	4432	SO:0001583	missense	3110	Currarino_syndrome			humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:156802973C>G	AF107457	CCDS34788.1, CCDS55187.1	7q36	2012-03-09	2007-08-09	2007-08-09	ENSG00000130675	ENSG00000130675		"""Homeoboxes / ANTP class : HOXL subclass"""	4979	protein-coding gene	gene with protein product		142994	"""homeo box HB9"", ""homeobox HB9"""	HLXB9		9843207	Standard	NM_001165255		Approved	HB9, HOXHB9, SCRA1	uc003wmz.4	P50219	OTTHUMG00000157181	ENST00000252971.6:c.72G>C	7.37:g.156802973C>G	ENSP00000252971:p.Gln24His					MNX1_uc003wmz.2_5'Flank|MNX1_uc003wna.2_Missense_Mutation_p.Q24H|MNX1_uc010lqq.1_5'Flank|MNX1_uc003wnc.1_5'Flank|MNX1_uc010lqr.1_5'Flank|uc003wne.1_5'Flank	p.Q24H	NM_005515	NP_005506	P50219	MNX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	375	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	24	DALLAVDPPRAASAQSAPLALVTSLAAA -> EPCWRWTPH EPPLAERALAKVTSPPVP (in Ref. 1; AAB60647).				F5H401|Q9Y648	Missense_Mutation	SNP	ENST00000252971.6	37	c.72G>C	CCDS34788.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271946	0.59649	.	.	ENSG00000130675	ENST00000252971	D	0.92752	-3.1	2.84	2.84	0.33178	.	0.000000	0.36134	U	0.002777	D	0.91576	0.7339	L	0.58101	1.795	0.80722	D	1	D	0.61080	0.989	P	0.53912	0.737	D	0.90530	0.4495	10	0.66056	D	0.02	.	6.8259	0.23883	0.0:0.8628:0.0:0.1372	.	24	P50219	MNX1_HUMAN	H	24	ENSP00000252971:Q24H	ENSP00000252971:Q24H	Q	-	3	2	MNX1	156495734	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	2.613000	0.46351	1.453000	0.47775	0.298000	0.19748	CAG		0.726	MNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347796.3			3	13	0	0	0	0	3	13				
UBE3C	9690	broad.mit.edu	37	7	156931979	156931979	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr7:156931979G>A	ENST00000348165.5	+	1	373	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	UBE3C_ENST00000389103.4_Missense_Mutation_p.E5K	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	5	Cis-determinant of acceptor ubiquitin- binding.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GTTCAGCTTCGAAGGCGACTT	0.766																																						uc010lqs.2		NA																	0				ovary(2)|lung(2)|large_intestine(1)	5						c.(13-15)GAA>AAA		ubiquitin protein ligase E3C							12.0	13.0	13.0					7																	156931979		2189	4265	6454	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:156931979G>A	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.13G>A	7.37:g.156931979G>A	ENSP00000309198:p.Glu5Lys					UBE3C_uc003wnf.2_Missense_Mutation_p.E5K|UBE3C_uc003wng.2_Missense_Mutation_p.E5K	p.E5K	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	1	325	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	5			Cis-determinant of acceptor ubiquitin- binding.		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.13G>A	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	g	17.83	3.486655	0.63962	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.50001	0.76	3.9	2.07	0.26955	.	0.000000	0.85682	U	0.000000	T	0.52370	0.1730	L	0.43923	1.385	0.54753	D	0.999988	P;D;D	0.89917	0.906;0.999;1.0	B;P;D	0.67103	0.372;0.89;0.949	T	0.44251	-0.9340	10	0.42905	T	0.14	.	6.6897	0.23163	0.231:0.0:0.769:0.0	.	5;5;5	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	K	5	ENSP00000309198:E5K	ENSP00000309198:E5K	E	+	1	0	UBE3C	156624740	1.000000	0.71417	0.997000	0.53966	0.341000	0.28922	3.509000	0.53386	0.244000	0.21351	-0.451000	0.05528	GAA		0.766	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		4	23	0	0	0	0	4	23				
CSMD1	64478	broad.mit.edu	37	8	3226815	3226815	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:3226815G>C	ENST00000520002.1	-	20	3418	c.2863C>G	c.(2863-2865)Cta>Gta	p.L955V	CSMD1_ENST00000542608.1_Missense_Mutation_p.L954V|CSMD1_ENST00000602723.1_Missense_Mutation_p.L955V|CSMD1_ENST00000602557.1_Missense_Mutation_p.L955V|CSMD1_ENST00000539096.1_Missense_Mutation_p.L954V|CSMD1_ENST00000400186.3_Missense_Mutation_p.L955V|CSMD1_ENST00000537824.1_Missense_Mutation_p.L954V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	955	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGCAGTTTAGAGAGTTTGGA	0.398																																						uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(2863-2865)CTA>GTA		CUB and Sushi multiple domains 1 precursor							70.0	66.0	67.0					8																	3226815		1840	4087	5927	SO:0001583	missense	64478					integral to membrane		g.chr8:3226815G>C			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2863C>G	8.37:g.3226815G>C	ENSP00000430733:p.Leu955Val					CSMD1_uc011kwj.1_Missense_Mutation_p.L347V|CSMD1_uc003wqe.2_Missense_Mutation_p.L111V	p.L955V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	19	3253	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	955			Extracellular (Potential).|CUB 6.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.2863C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.74|14.74	2.624180|2.624180	0.46840|0.46840	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|T	0.31510|0.31769	1.49;1.49;1.49;1.49;1.49|1.48	5.2|5.2	3.39|3.39	0.38822|0.38822	CUB (5);|.	0.000000|.	0.52532|.	D|.	0.000061|.	T|T	0.34948|0.34948	0.0915|0.0915	L|L	0.48642|0.48642	1.525|1.525	0.47407|0.47407	D|D	0.999411|0.999411	D;D;D|.	0.89917|.	0.997;1.0;0.997|.	D;D;D|.	0.91635|.	0.994;0.999;0.971|.	T|T	0.08269|0.08269	-1.0730|-1.0730	10|7	0.54805|0.48119	T|T	0.06|0.1	.|.	8.9369|8.9369	0.35706|0.35706	0.2788:0.0:0.7212:0.0|0.2788:0.0:0.7212:0.0	.|.	955;955;955|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	V|C	955;955;817;954;954;954|434	ENSP00000383047:L955V;ENSP00000430733:L955V;ENSP00000441462:L954V;ENSP00000446243:L954V;ENSP00000441675:L954V|ENSP00000334828:S434C	ENSP00000320445:L817V|ENSP00000334828:S434C	L|S	-|-	1|2	2|0	CSMD1|CSMD1	3214222|3214222	0.908000|0.908000	0.30866|0.30866	0.267000|0.267000	0.24556|0.24556	0.613000|0.613000	0.37349|0.37349	1.129000|1.129000	0.31381|0.31381	1.181000|1.181000	0.42912|0.42912	0.557000|0.557000	0.71058|0.71058	CTA|TCT		0.398	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		5	32	0	0	0	0	5	32				
CLDN23	137075	broad.mit.edu	37	8	8560295	8560295	+	Silent	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:8560295C>A	ENST00000519106.1	+	1	848	c.387C>A	c.(385-387)ctC>ctA	p.L129L		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	129					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		TCCTCGGCCTCATCCCGGTGT	0.701																																						uc003wsi.2		NA																	0					0						c.(385-387)CTC>CTA		claudin 23							20.0	24.0	23.0					8																	8560295		2157	4232	6389	SO:0001819	synonymous_variant	137075				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr8:8560295C>A	AK123547	CCDS55195.1	8p23.1	2006-04-12				ENSG00000253958		"""Claudins"""	17591	protein-coding gene	gene with protein product		609203				12736707	Standard	NM_194284		Approved	CLDNL	uc003wsi.3	Q96B33		ENST00000519106.1:c.387C>A	8.37:g.8560295C>A							p.L129L	NM_194284	NP_919260	Q96B33	CLD23_HUMAN		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)	1	630	+		Hepatocellular(245;0.217)	129			Helical; (Potential).		Q08AJ3	Silent	SNP	ENST00000519106.1	37	c.387C>A	CCDS55195.1																																																																																				0.701	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1	NM_194284		12	18	1	0	4.38e-07	4.55e-07	12	18				
RP1L1	94137	broad.mit.edu	37	8	10468185	10468185	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:10468185G>C	ENST00000382483.3	-	4	3646	c.3423C>G	c.(3421-3423)ttC>ttG	p.F1141L		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1141					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGAGTCTTTGAACCTCACTT	0.592																																						uc003wtc.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(3421-3423)TTC>TTG		retinitis pigmentosa 1-like 1							59.0	68.0	65.0					8																	10468185		2041	4201	6242	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10468185G>C	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3423C>G	8.37:g.10468185G>C	ENSP00000371923:p.Phe1141Leu						p.F1141L	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	3652	-			1141					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.3423C>G	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	7.308	0.614483	0.14129	.	.	ENSG00000183638	ENST00000382483	T	0.03717	3.83	4.64	2.83	0.33086	.	0.245896	0.21326	N	0.076367	T	0.02610	0.0079	N	0.19112	0.55	0.09310	N	1	B	0.21225	0.053	B	0.20184	0.028	T	0.46679	-0.9174	10	0.25106	T	0.35	-7.0623	7.6195	0.28177	0.2944:0.0:0.7056:0.0	.	1141	A6NKC6	.	L	1141	ENSP00000371923:F1141L	ENSP00000371923:F1141L	F	-	3	2	RP1L1	10505595	0.000000	0.05858	0.048000	0.18961	0.136000	0.21042	0.425000	0.21346	0.550000	0.28991	0.561000	0.74099	TTC		0.592	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			20	85	0	0	0	0	20	85				
DLC1	10395	broad.mit.edu	37	8	13356866	13356866	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:13356866C>T	ENST00000276297.4	-	2	1124	c.715G>A	c.(715-717)Gac>Aac	p.D239N	DLC1_ENST00000511869.1_Missense_Mutation_p.D239N|DLC1_ENST00000316609.5_Missense_Mutation_p.D239N	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	239					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTAGGGGGGTCAGGTTTCCTT	0.398																																						uc003wwm.2		NA																	0				ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(715-717)GAC>AAC		deleted in liver cancer 1 isoform 1							152.0	154.0	153.0					8																	13356866		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13356866C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.715G>A	8.37:g.13356866C>T	ENSP00000276297:p.Asp239Asn					DLC1_uc003wwn.2_Missense_Mutation_p.D239N|DLC1_uc011kxy.1_Missense_Mutation_p.D239N	p.D239N	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			2	1159	-			239					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.715G>A	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530104	0.64860	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.34275	2.32;1.37;1.42	4.84	4.84	0.62591	.	0.000000	0.43110	D	0.000608	T	0.57417	0.2052	L	0.55990	1.75	0.40397	D	0.979612	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.994	T	0.61143	-0.7122	10	0.87932	D	0	.	18.5061	0.90898	0.0:1.0:0.0:0.0	.	239;239;239	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	N	239	ENSP00000276297:D239N;ENSP00000321034:D239N;ENSP00000425878:D239N	ENSP00000276297:D239N	D	-	1	0	DLC1	13401237	0.996000	0.38824	0.914000	0.36105	0.376000	0.30014	3.638000	0.54332	2.658000	0.90341	0.655000	0.94253	GAC		0.398	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		84	283	0	0	0	0	84	283				
FGF20	26281	broad.mit.edu	37	8	16850803	16850803	+	Silent	SNP	G	G	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:16850803G>T	ENST00000180166.5	-	3	562	c.414C>A	c.(412-414)atC>atA	p.I138I		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	138					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cardiac muscle cell proliferation (GO:0060043)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GCTCCCTAAAGATGCATTCGG	0.333																																						uc003wxc.1		NA																	0				lung(1)	1						c.(412-414)ATC>ATA		fibroblast growth factor 20							129.0	133.0	131.0					8																	16850803		2203	4300	6503	SO:0001819	synonymous_variant	26281				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity	g.chr8:16850803G>T	AB030648	CCDS5998.1	8p22	2008-05-15			ENSG00000078579	ENSG00000078579			3677	protein-coding gene	gene with protein product		605558				10913340	Standard	NM_019851		Approved		uc003wxc.1	Q9NP95	OTTHUMG00000096964	ENST00000180166.5:c.414C>A	8.37:g.16850803G>T						FGF20_uc010lsv.1_RNA|FGF20_uc010lsw.1_Missense_Mutation_p.L104I	p.I138I	NM_019851	NP_062825	Q9NP95	FGF20_HUMAN		Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	3	547	-			138					B2RPH5	Silent	SNP	ENST00000180166.5	37	c.414C>A	CCDS5998.1	.	.	.	.	.	.	.	.	.	.	G	8.103	0.777050	0.16120	.	.	ENSG00000078579	ENST00000519941	.	.	.	5.85	4.03	0.46877	.	.	.	.	.	T	0.59689	0.2212	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57613	-0.7781	4	.	.	.	.	9.5438	0.39268	0.2108:0.0:0.7892:0.0	.	.	.	.	I	40	.	.	L	-	1	0	FGF20	16895174	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.946000	0.49050	1.616000	0.50265	0.655000	0.94253	CTT		0.333	FGF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214030.1			45	215	1	0	2.78e-22	2.97e-22	45	215				
NPM2	10361	broad.mit.edu	37	8	21891774	21891774	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:21891774G>A	ENST00000397940.1	+	6	1534	c.519G>A	c.(517-519)gcG>gcA	p.A173A	snoU13_ENST00000459495.1_RNA|NPM2_ENST00000521157.1_Silent_p.A173A|NPM2_ENST00000518119.1_Silent_p.A173A|NPM2_ENST00000381530.5_Intron|NPM2_ENST00000289820.6_Silent_p.A173A			Q86SE8	NPM2_HUMAN	nucleophosmin/nucleoplasmin 2	173					chromatin remodeling (GO:0006338)|embryo development (GO:0009790)|oocyte differentiation (GO:0009994)|positive regulation of catalytic activity (GO:0043085)|positive regulation of DNA replication (GO:0045740)|positive regulation of meiosis (GO:0045836)|protein homooligomerization (GO:0051260)|regulation of exit from mitosis (GO:0007096)|single fertilization (GO:0007338)	cytoplasmic chromatin (GO:0000789)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleic acid binding (GO:0003676)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		AGAAGCAGGCGAGCGTGGCTA	0.567																																						uc003xab.2		NA																	0					0						c.(517-519)GCG>GCA		nucleoplasmin 2							68.0	68.0	68.0					8																	21891774		2203	4300	6503	SO:0001819	synonymous_variant	10361				chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization	cytoplasmic chromatin|nuclear chromatin	histone binding|nucleic acid binding	g.chr8:21891774G>A	AY262113	CCDS6018.1, CCDS75703.1	8p21.3	2009-08-27	2009-08-27		ENSG00000158806	ENSG00000158806			7930	protein-coding gene	gene with protein product		608073				12714744	Standard	NM_182795		Approved		uc003xae.3	Q86SE8	OTTHUMG00000131129	ENST00000397940.1:c.519G>A	8.37:g.21891774G>A						NPM2_uc003xac.2_Silent_p.A173A|NPM2_uc003xad.2_Silent_p.A173A|NPM2_uc003xae.2_Silent_p.A173A|NPM2_uc003xaf.2_Intron	p.A173A	NM_182795	NP_877724	Q86SE8	NPM2_HUMAN		Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)	6	1177	+			173					B3KSU0|D3DSQ8|Q6NVH6	Silent	SNP	ENST00000397940.1	37	c.519G>A	CCDS6018.1																																																																																				0.567	NPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253810.2	NM_182795		5	66	0	0	0	0	5	66				
FBXO16	157574	broad.mit.edu	37	8	28321304	28321304	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:28321304C>G	ENST00000380254.2	-	4	315	c.167G>C	c.(166-168)aGa>aCa	p.R56T	FBXO16_ENST00000346498.2_Missense_Mutation_p.R44T|FBXO16_ENST00000517436.1_5'UTR|FBXO16_ENST00000518734.1_Missense_Mutation_p.R44T	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	56										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		TGTGAGGATTCTTCTTCTTTG	0.438																																						uc003xgu.2		NA																	0				ovary(1)	1						c.(166-168)AGA>ACA		F-box only protein 16							46.0	46.0	46.0					8																	28321304		2203	4300	6503	SO:0001583	missense	157574							g.chr8:28321304C>G	AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"""F-boxes /  ""other"""""	13618	protein-coding gene	gene with protein product		608519	"""F-box only protein 16"""			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.167G>C	8.37:g.28321304C>G	ENSP00000369604:p.Arg56Thr					ZNF395_uc003xgt.2_5'UTR|FBXO16_uc003xgv.2_Missense_Mutation_p.R43T|FBXO16_uc003xgw.2_Missense_Mutation_p.R43T	p.R56T	NM_172366	NP_758954	Q8IX29	FBX16_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)	4	265	-		Ovarian(32;2.06e-05)	56					Q3T1B2|Q3T1B3|Q3T1B4	Missense_Mutation	SNP	ENST00000380254.2	37	c.167G>C	CCDS6068.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031129	0.35797	.	.	ENSG00000214050	ENST00000380254;ENST00000346498;ENST00000518734;ENST00000517673	T;T;T;T	0.42513	2.51;2.46;2.47;0.97	5.78	3.05	0.35203	.	0.506934	0.19069	U	0.123553	T	0.32285	0.0824	L	0.38531	1.155	0.80722	D	1	B;B;B	0.15930	0.015;0.006;0.006	B;B;B	0.18263	0.021;0.021;0.021	T	0.06197	-1.0840	10	0.38643	T	0.18	-12.3808	10.4152	0.44318	0.0:0.7279:0.0:0.2721	.	44;44;56	Q3T1B3;Q3T1B2;Q8IX29	.;.;FBX16_HUMAN	T	56;44;44;56	ENSP00000369604:R56T;ENSP00000341416:R44T;ENSP00000429687:R44T;ENSP00000429390:R56T	ENSP00000341416:R44T	R	-	2	0	FBXO16	28377223	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.310000	0.33551	0.474000	0.27392	0.591000	0.81541	AGA		0.438	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2	NM_172366		20	69	0	0	0	0	20	69				
STAR	6770	broad.mit.edu	37	8	38005783	38005783	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:38005783C>T	ENST00000276449.4	-	3	687	c.241G>A	c.(241-243)Gag>Aag	p.E81K	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	81	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		TGCATGGCCTCCTCCCCCTGC	0.567																																						uc003xkv.1		NA																	0				ovary(1)	1						c.(241-243)GAG>AAG		steroidogenic acute regulatory protein isoform							89.0	64.0	73.0					8																	38005783		2203	4300	6503	SO:0001583	missense	6770				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity	g.chr8:38005783C>T	BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"""StAR-related lipid transfer (START) domain containing"""	11359	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 1"""	600617	"""steroidogenic acute regulator"""			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.241G>A	8.37:g.38005783C>T	ENSP00000276449:p.Glu81Lys					STAR_uc010lwc.1_Missense_Mutation_p.E43K	p.E81K	NM_001007243	NP_001007244	P49675	STAR_HUMAN		READ - Rectum adenocarcinoma(644;0.188)	3	505	-	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)	81			START.		Q16396	Missense_Mutation	SNP	ENST00000276449.4	37	c.241G>A	CCDS6102.1	.	.	.	.	.	.	.	.	.	.	C	35	5.454841	0.96223	.	.	ENSG00000147465	ENST00000276449;ENST00000522753	D	0.84944	-1.92	5.43	5.43	0.79202	Lipid-binding START (3);START-like domain (1);	0.098325	0.64402	D	0.000002	D	0.89030	0.6599	M	0.86651	2.83	0.80722	D	1	B;B	0.25441	0.054;0.126	B;B	0.31390	0.129;0.129	D	0.87058	0.2151	10	0.51188	T	0.08	-26.567	19.589	0.95499	0.0:1.0:0.0:0.0	.	43;81	E7ETA9;P49675	.;STAR_HUMAN	K	81;43	ENSP00000276449:E81K	ENSP00000276449:E81K	E	-	1	0	STAR	38124940	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.538000	0.53597	2.709000	0.92574	0.491000	0.48974	GAG		0.567	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349		23	39	0	0	0	0	23	39				
CHRNA6	8973	broad.mit.edu	37	8	42611623	42611623	+	Missense_Mutation	SNP	G	G	A	rs200497100		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:42611623G>A	ENST00000276410.2	-	5	1074	c.719C>T	c.(718-720)cCg>cTg	p.P240L	CHRNA6_ENST00000534622.1_Missense_Mutation_p.P225L|CHRNA6_ENST00000530869.1_5'Flank	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	240					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	GTAAAACATCGGCAATCTTCT	0.368																																						uc003xpj.2		NA																	0					0						c.(718-720)CCG>CTG		cholinergic receptor, nicotinic, alpha 6							98.0	98.0	98.0					8																	42611623		2203	4300	6503	SO:0001583	missense	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42611623G>A	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.719C>T	8.37:g.42611623G>A	ENSP00000276410:p.Pro240Leu					CHRNA6_uc011lcw.1_Missense_Mutation_p.P225L	p.P240L	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	765	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	240			Helical; (Potential).		B2R8V4|B4DQH1	Missense_Mutation	SNP	ENST00000276410.2	37	c.719C>T	CCDS6135.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678464	0.68042	.	.	ENSG00000147434	ENST00000276410;ENST00000534622	T;T	0.77489	-1.1;-1.1	5.97	5.97	0.96955	Neurotransmitter-gated ion-channel ligand-binding (1);Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.93517	0.7931	H	0.98487	4.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94967	0.8113	10	0.62326	D	0.03	.	20.4238	0.99064	0.0:0.0:1.0:0.0	.	225;240	B4DQH1;Q15825	.;ACHA6_HUMAN	L	240;225	ENSP00000276410:P240L;ENSP00000433871:P225L	ENSP00000276410:P240L	P	-	2	0	CHRNA6	42730780	1.000000	0.71417	0.775000	0.31657	0.240000	0.25518	9.776000	0.99001	2.828000	0.97474	0.655000	0.94253	CCG		0.368	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			28	56	0	0	0	0	28	56				
POTEA	340441	broad.mit.edu	37	8	43173738	43173738	+	RNA	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:43173738C>T	ENST00000522175.2	+	0	1024							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGCAATTTCCTAACACAGAG	0.393																																						uc003xpz.1		NA																	0				ovary(1)	1						c.(1159-1161)CCT>CTT		POTE ankyrin domain family, member A isoform 2							125.0	125.0	125.0					8																	43173738		2188	4295	6483			340441							g.chr8:43173738C>T	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43173738C>T						POTEA_uc003xqa.1_Missense_Mutation_p.P341L	p.P387L	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			9	1203	+			387					A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37	c.1160C>T																																																																																					0.393	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		18	72	0	0	0	0	18	72				
PRKDC	5591	broad.mit.edu	37	8	48776002	48776002	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:48776002G>A	ENST00000314191.2	-	43	5761	c.5705C>T	c.(5704-5706)tCg>tTg	p.S1902L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.S1902L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1903					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGTAATACACGAGCCATGGAA	0.313								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(5707-5709)TCG>TTG	NHEJ	protein kinase, DNA-activated, catalytic							120.0	116.0	117.0					8																	48776002		1841	4086	5927	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48776002G>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.5705C>T	8.37:g.48776002G>A	ENSP00000313420:p.Ser1902Leu					PRKDC_uc003xqj.2_Missense_Mutation_p.S1903L|PRKDC_uc011ldh.1_Intron	p.S1903L	NM_006904	NP_008835	P78527	PRKDC_HUMAN			43	5765	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1903					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.5708C>T		.	.	.	.	.	.	.	.	.	.	G	17.94	3.512367	0.64522	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.34667	1.35;1.35	5.86	5.86	0.93980	NUC194 (1);Armadillo-type fold (1);	0.231325	0.37437	N	0.002082	T	0.59972	0.2233	M	0.76002	2.32	0.47094	D	0.999313	D;D	0.61697	0.99;0.99	P;P	0.59546	0.811;0.859	T	0.61019	-0.7147	10	0.66056	D	0.02	.	20.2019	0.98263	0.0:0.0:1.0:0.0	.	1902;1903	E7EUY0;P78527	.;PRKDC_HUMAN	L	1902	ENSP00000313420:S1902L;ENSP00000345182:S1902L	ENSP00000313420:S1902L	S	-	2	0	PRKDC	48938555	1.000000	0.71417	0.965000	0.40720	0.170000	0.22686	7.216000	0.77974	2.776000	0.95493	0.655000	0.94253	TCG		0.313	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		44	170	0	0	0	0	44	170				
RP1	6101	broad.mit.edu	37	8	55538105	55538105	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:55538105C>G	ENST00000220676.1	+	4	1811	c.1663C>G	c.(1663-1665)Cag>Gag	p.Q555E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	555					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AATTACAAGTCAGAAGATGTT	0.338																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(1663-1665)CAG>GAG		retinitis pigmentosa RP1 protein							86.0	89.0	88.0					8																	55538105		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55538105C>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1663C>G	8.37:g.55538105C>G	ENSP00000220676:p.Gln555Glu					RP1_uc011ldy.1_Intron	p.Q555E	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1811	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	555						Missense_Mutation	SNP	ENST00000220676.1	37	c.1663C>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751895	0.49362	.	.	ENSG00000104237	ENST00000220676	T	0.33438	1.41	5.62	4.74	0.60224	.	0.000000	0.53938	D	0.000060	T	0.26557	0.0649	M	0.64997	1.995	0.23138	N	0.998238	P	0.39480	0.675	B	0.30105	0.111	T	0.33650	-0.9860	10	0.66056	D	0.02	.	9.5071	0.39053	0.2742:0.6098:0.1161:0.0	.	555	P56715	RP1_HUMAN	E	555	ENSP00000220676:Q555E	ENSP00000220676:Q555E	Q	+	1	0	RP1	55700658	0.835000	0.29415	1.000000	0.80357	0.990000	0.78478	0.736000	0.26130	1.362000	0.46000	0.650000	0.86243	CAG		0.338	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		20	103	0	0	0	0	20	103				
XKR4	114786	broad.mit.edu	37	8	56015534	56015534	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:56015534C>T	ENST00000327381.6	+	1	586	c.486C>T	c.(484-486)ttC>ttT	p.F162F		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	162						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGCAAGTGTTCAGCTTCCGCT	0.652																																						uc003xsf.2		NA																	0				pancreas(2)	2						c.(484-486)TTC>TTT		XK, Kell blood group complex subunit-related							51.0	36.0	41.0					8																	56015534		2200	4299	6499	SO:0001819	synonymous_variant	114786					integral to membrane		g.chr8:56015534C>T	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.486C>T	8.37:g.56015534C>T							p.F162F	NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		1	518	+			162			Helical; (Potential).		Q96PZ8	Silent	SNP	ENST00000327381.6	37	c.486C>T	CCDS34893.1																																																																																				0.652	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		24	63	0	0	0	0	24	63				
VCPIP1	80124	broad.mit.edu	37	8	67547415	67547415	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:67547415G>C	ENST00000310421.4	-	3	3248	c.2990C>G	c.(2989-2991)tCa>tGa	p.S997*		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	997					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TGAGGGACTTGATTCCCTACT	0.438																																					NSCLC(179;265 2915 6144 43644)	uc003xwn.2		NA																	0				lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8						c.(2989-2991)TCA>TGA		valosin containing protein (p97)/p47 complex							171.0	163.0	166.0					8																	67547415		2203	4300	6503	SO:0001587	stop_gained	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67547415G>C	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.2990C>G	8.37:g.67547415G>C	ENSP00000309031:p.Ser997*						p.S997*	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		3	3249	-		Lung NSC(129;0.142)|all_lung(136;0.227)	997					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Nonsense_Mutation	SNP	ENST00000310421.4	37	c.2990C>G	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	G	40	8.159671	0.98683	.	.	ENSG00000175073	ENST00000310421	.	.	.	6.08	6.08	0.98989	.	0.124006	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-7.6519	16.8679	0.86033	0.0:0.128:0.872:0.0	.	.	.	.	X	997	.	ENSP00000309031:S997X	S	-	2	0	VCPIP1	67709969	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.186000	0.65082	2.894000	0.99253	0.591000	0.81541	TCA		0.438	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			76	280	0	0	0	0	76	280				
SULF1	23213	broad.mit.edu	37	8	70550802	70550802	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:70550802G>A	ENST00000260128.4	+	20	3067	c.2350G>A	c.(2350-2352)Gag>Aag	p.E784K	SULF1_ENST00000458141.2_Missense_Mutation_p.E784K|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.E784K|SULF1_ENST00000419716.3_Missense_Mutation_p.E784K	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	784					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TACAGTTAATGAGACGCATAA	0.343																																						uc010lza.1		NA																	0				central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7						c.(2350-2352)GAG>AAG		sulfatase 1 precursor							145.0	136.0	139.0					8																	70550802		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70550802G>A	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.2350G>A	8.37:g.70550802G>A	ENSP00000260128:p.Glu784Lys					SULF1_uc003xyd.2_Missense_Mutation_p.E784K|SULF1_uc003xye.2_Missense_Mutation_p.E784K|SULF1_uc003xyf.2_Missense_Mutation_p.E784K|SULF1_uc003xyg.2_Missense_Mutation_p.E784K|SULF1_uc003xyh.1_RNA|SULF1_uc003xyi.1_Intron|SULF1_uc003xyj.1_5'UTR	p.E784K	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		20	3067	+	Breast(64;0.0654)		784					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.2350G>A	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565188	0.86439	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	4.9	4.9	0.64082	Alkaline-phosphatase-like, core domain (1);	0.110149	0.64402	D	0.000009	T	0.28034	0.0691	L	0.58583	1.82	0.80722	D	1	B	0.30021	0.265	B	0.24541	0.054	T	0.04579	-1.0941	10	0.33940	T	0.23	.	18.6867	0.91567	0.0:0.0:1.0:0.0	.	784	Q8IWU6	SULF1_HUMAN	K	784	ENSP00000403040:E784K;ENSP00000260128:E784K;ENSP00000385704:E784K;ENSP00000390315:E784K	ENSP00000260128:E784K	E	+	1	0	SULF1	70713356	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.597000	0.98273	2.714000	0.92807	0.650000	0.86243	GAG		0.343	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		40	171	0	0	0	0	40	171				
TRPA1	8989	broad.mit.edu	37	8	72942205	72942205	+	Splice_Site	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:72942205C>G	ENST00000262209.4	-	24	3076		c.e24-1		RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1						calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CCAAACCAATCTGAAGTATGA	0.413																																						uc003xza.2		NA																	0				ovary(4)|lung(1)|kidney(1)	6						c.e24-1		ankyrin-like protein 1	Menthol(DB00825)						103.0	85.0	91.0					8																	72942205		2203	4300	6503	SO:0001630	splice_region_variant	8989					integral to plasma membrane		g.chr8:72942205C>G	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2869-1G>C	8.37:g.72942205C>G						uc011lff.1_Intron|uc003xyy.2_Intron	p.I957_splice	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		24	3044	-								A6NIN6	Splice_Site	SNP	ENST00000262209.4	37	c.2869_splice	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091395	0.55968	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	.	.	.	6.03	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8689	0.86036	0.1293:0.8707:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRPA1	73104759	1.000000	0.71417	0.997000	0.53966	0.878000	0.50629	4.822000	0.62686	1.554000	0.49487	0.655000	0.94253	.		0.413	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	Intron	22	75	0	0	0	0	22	75				
TRPA1	8989	broad.mit.edu	37	8	72981315	72981315	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:72981315G>A	ENST00000262209.4	-	3	594	c.387C>T	c.(385-387)ttC>ttT	p.F129F		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	129					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CCATCATGTTGAAGTTTCGGA	0.478																																						uc003xza.2		NA																	0				ovary(4)|lung(1)|kidney(1)	6						c.(385-387)TTC>TTT		ankyrin-like protein 1	Menthol(DB00825)						229.0	243.0	238.0					8																	72981315		2203	4300	6503	SO:0001819	synonymous_variant	8989					integral to plasma membrane		g.chr8:72981315G>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.387C>T	8.37:g.72981315G>A							p.F129F	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		3	562	-			129			Cytoplasmic (Potential).		A6NIN6	Silent	SNP	ENST00000262209.4	37	c.387C>T	CCDS34908.1																																																																																				0.478	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		22	434	0	0	0	0	22	434				
ATP6V0D2	245972	broad.mit.edu	37	8	87151798	87151798	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:87151798G>C	ENST00000285393.3	+	3	557	c.415G>C	c.(415-417)Gaa>Caa	p.E139Q	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	139					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						CACAGAAATGGAAGCTGTCAA	0.428																																						uc003ydp.1		NA																	0					0						c.(415-417)GAA>CAA		ATPase, H+ transporting, lysosomal 38kDa, V0							124.0	123.0	123.0					8																	87151798		2203	4300	6503	SO:0001583	missense	245972				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	g.chr8:87151798G>C	AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"""ATPases / V-type"""	18266	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"""			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.415G>C	8.37:g.87151798G>C	ENSP00000285393:p.Glu139Gln						p.E139Q	NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN			3	484	+			139						Missense_Mutation	SNP	ENST00000285393.3	37	c.415G>C	CCDS6241.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806145	0.90623	.	.	ENSG00000147614	ENST00000285393	T	0.31510	1.49	6.02	5.14	0.70334	.	0.057526	0.64402	D	0.000001	T	0.52629	0.1746	M	0.90483	3.12	0.80722	D	1	P	0.50819	0.939	P	0.53988	0.739	T	0.53781	-0.8390	10	0.19590	T	0.45	-15.2022	14.4701	0.67512	0.0722:0.0:0.9278:0.0	.	139	Q8N8Y2	VA0D2_HUMAN	Q	139	ENSP00000285393:E139Q	ENSP00000285393:E139Q	E	+	1	0	ATP6V0D2	87220914	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.113000	0.94321	2.857000	0.98124	0.650000	0.86243	GAA		0.428	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565		38	226	0	0	0	0	38	226				
SLC7A13	157724	broad.mit.edu	37	8	87242048	87242048	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:87242048C>G	ENST00000297524.3	-	1	562	c.459G>C	c.(457-459)gtG>gtC	p.V153V	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Silent_p.V153V	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	153						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TCACTTCTTTCACACCACGAG	0.453																																						uc003ydq.1		NA																	0				central_nervous_system(1)	1						c.(457-459)GTG>GTC		solute carrier family 7, (cationic amino acid							120.0	106.0	111.0					8																	87242048		2203	4300	6503	SO:0001819	synonymous_variant	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87242048C>G	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.459G>C	8.37:g.87242048C>G						SLC7A13_uc003ydr.1_Silent_p.V153V	p.V153V	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN			1	557	-			153			Cytoplasmic (Potential).		Q05C37|Q08AH9|Q96N84	Silent	SNP	ENST00000297524.3	37	c.459G>C	CCDS34917.1																																																																																				0.453	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		28	114	0	0	0	0	28	114				
CNGB3	54714	broad.mit.edu	37	8	87616352	87616352	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:87616352G>C	ENST00000320005.5	-	15	1797	c.1750C>G	c.(1750-1752)Ctg>Gtg	p.L584V		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	584					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CCAGCTTTCAGAGTAACCAGA	0.368																																						uc003ydx.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1750-1752)CTG>GTG		cyclic nucleotide gated channel beta 3							79.0	78.0	79.0					8																	87616352		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87616352G>C	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1750C>G	8.37:g.87616352G>C	ENSP00000316605:p.Leu584Val					CNGB3_uc010maj.2_Missense_Mutation_p.L446V	p.L584V	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			15	1796	-			584			Cytoplasmic (Potential).|cGMP (By similarity).		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.1750C>G	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694774	0.68386	.	.	ENSG00000170289	ENST00000320005	D	0.97850	-4.57	5.97	5.09	0.68999	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.087662	0.47455	D	0.000222	D	0.98757	0.9582	M	0.89785	3.06	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.75484	0.976;0.986	D	0.98802	1.0740	10	0.87932	D	0	.	12.6571	0.56793	0.13:0.0:0.87:0.0	.	584;584	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	V	584	ENSP00000316605:L584V	ENSP00000316605:L584V	L	-	1	2	CNGB3	87685468	0.997000	0.39634	1.000000	0.80357	0.929000	0.56500	2.207000	0.42788	2.837000	0.97791	0.655000	0.94253	CTG		0.368	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		24	101	0	0	0	0	24	101				
NBN	4683	broad.mit.edu	37	8	90965508	90965508	+	Silent	SNP	G	G	A	rs192236678	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:90965508G>A	ENST00000265433.3	-	11	1963	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	NBN_ENST00000409330.1_Silent_p.F521F	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	603					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CTTCATCACTGAAAGTGTCAT	0.343								Homologous recombination																														uc003yej.1		NA																	0				central_nervous_system(3)|kidney(3)|lung(1)	7						c.(1807-1809)TTC>TTT	Direct_reversal_of_damage|Homologous_recombination	nibrin							300.0	289.0	293.0					8																	90965508		2203	4299	6502	SO:0001819	synonymous_variant	4683	Nijmegen_Breakage_syndrome			cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90965508G>A	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1809C>T	8.37:g.90965508G>A						NBN_uc003yei.1_Silent_p.F521F|NBN_uc011lgb.1_Silent_p.F603F	p.F603F	NM_002485	NP_002476	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		11	1919	-			603					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Silent	SNP	ENST00000265433.3	37	c.1809C>T	CCDS6249.1																																																																																				0.343	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		67	262	0	0	0	0	67	262				
TMEM55A	55529	broad.mit.edu	37	8	92032432	92032432	+	Silent	SNP	G	G	A	rs370985547		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:92032432G>A	ENST00000285419.3	-	3	629	c.315C>T	c.(313-315)ctC>ctT	p.L105L	GS1-251I9.3_ENST00000517920.1_RNA	NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	105						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			CCTTACAAATGAGAAGACAAT	0.378																																						uc003yes.2		NA																	0					0						c.(313-315)CTC>CTT		transmembrane protein 55A		G		0,4406		0,0,2203	150.0	148.0	149.0		315	2.1	1.0	8		149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMEM55A	NM_018710.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		105/258	92032432	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55529					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	g.chr8:92032432G>A	BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.315C>T	8.37:g.92032432G>A							p.L105L	NM_018710	NP_061180	Q8N4L2	TM55A_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.033)		3	541	-			105					B2R9H4|Q68CU2	Silent	SNP	ENST00000285419.3	37	c.315C>T	CCDS6252.1																																																																																				0.378	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376778.1	NM_018710		30	151	0	0	0	0	30	151				
TMEM67	91147	broad.mit.edu	37	8	94767324	94767324	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:94767324C>G	ENST00000453321.3	+	1	240	c.182C>G	c.(181-183)tCg>tGg	p.S61W	TMEM67_ENST00000409623.3_5'UTR	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	61					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TCCGCCCTCTCGTGTGTTCCT	0.562																																						uc011lgk.1		NA																	0				ovary(2)	2						c.(181-183)TCG>TGG		meckelin isoform 1							112.0	107.0	109.0					8																	94767324		2203	4300	6503	SO:0001583	missense	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94767324C>G	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.182C>G	8.37:g.94767324C>G	ENSP00000389998:p.Ser61Trp					TMEM67_uc010mau.2_Missense_Mutation_p.S61W|TMEM67_uc010mav.2_Missense_Mutation_p.S61W|TMEM67_uc010mat.1_5'UTR|TMEM67_uc010maw.2_Missense_Mutation_p.S61W|TMEM67_uc003yga.3_5'UTR	p.S61W	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		1	253	+	Breast(36;4.14e-07)		61					B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	ENST00000453321.3	37	c.182C>G	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139844	0.56936	.	.	ENSG00000164953	ENST00000453321;ENST00000453906	T;T	0.64618	-0.11;-0.11	5.35	5.35	0.76521	Growth factor, receptor (1);	0.174525	0.52532	D	0.000071	T	0.78368	0.4272	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.941;0.998;0.999	T	0.79969	-0.1579	10	0.87932	D	0	-5.3862	16.088	0.81070	0.0:1.0:0.0:0.0	.	61;61;61	Q5HYA8;F8WCQ6;E5RH38	MKS3_HUMAN;.;.	W	61	ENSP00000389998:S61W;ENSP00000403035:S61W	ENSP00000314488:S51W	S	+	2	0	TMEM67	94836500	0.994000	0.37717	0.995000	0.50966	0.127000	0.20565	4.009000	0.57110	2.787000	0.95880	0.585000	0.79938	TCG		0.562	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		57	263	0	0	0	0	57	263				
ESRP1	54845	broad.mit.edu	37	8	95683700	95683700	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:95683700C>T	ENST00000433389.2	+	11	1443	c.1253C>T	c.(1252-1254)tCg>tTg	p.S418L	ESRP1_ENST00000423620.2_Missense_Mutation_p.S418L|ESRP1_ENST00000454170.2_Missense_Mutation_p.S418L|ESRP1_ENST00000358397.5_Missense_Mutation_p.S418L	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	418					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CGATTCTCCTCGGCCCCTCTC	0.483																																						uc003ygq.3		NA																ESRP1/RAF1(4)	0				prostate(4)	4						c.(1252-1254)TCG>TTG		RNA binding motif protein 35A isoform 1							100.0	100.0	100.0					8																	95683700		1925	4130	6055	SO:0001583	missense	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95683700C>T	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1253C>T	8.37:g.95683700C>T	ENSP00000405738:p.Ser418Leu					ESRP1_uc003ygr.3_Missense_Mutation_p.S418L|ESRP1_uc003ygs.3_Missense_Mutation_p.S418L|ESRP1_uc003ygt.3_Missense_Mutation_p.S418L|ESRP1_uc003ygu.3_Missense_Mutation_p.S418L|ESRP1_uc003ygv.2_Missense_Mutation_p.S258L|ESRP1_uc003ygw.2_Missense_Mutation_p.S258L	p.S418L	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN			11	1436	+			418					A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.1253C>T	CCDS47897.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889538	0.91889	.	.	ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610	T;T;T;T;T	0.14144	2.74;2.73;2.72;2.75;2.53	5.11	5.11	0.69529	.	0.053883	0.85682	D	0.000000	T	0.29620	0.0739	L	0.52573	1.65	0.80722	D	1	P;D;P;P;P;P	0.65815	0.669;0.995;0.556;0.706;0.898;0.732	B;P;B;B;B;B	0.59546	0.126;0.859;0.151;0.092;0.423;0.243	T	0.00548	-1.1677	10	0.41790	T	0.15	-5.7254	18.9087	0.92474	0.0:1.0:0.0:0.0	.	418;418;418;418;418;418	D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.;.;.;.;.;ESRP1_HUMAN	L	418;418;418;418;277	ENSP00000407349:S418L;ENSP00000405738:S418L;ENSP00000351168:S418L;ENSP00000402766:S418L;ENSP00000429125:S277L	ENSP00000351168:S418L	S	+	2	0	ESRP1	95752876	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.776000	0.85560	2.515000	0.84797	0.655000	0.94253	TCG		0.483	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		30	73	0	0	0	0	30	73				
PTDSS1	9791	broad.mit.edu	37	8	97316403	97316403	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:97316403C>G	ENST00000517309.1	+	7	1214	c.888C>G	c.(886-888)atC>atG	p.I296M	PTDSS1_ENST00000455950.2_Missense_Mutation_p.I150M|PTDSS1_ENST00000522072.1_Missense_Mutation_p.I93M	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	296					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TCATGATCATCTGGCAGGTAT	0.378																																						uc003yht.1		NA																	0				ovary(1)	1						c.(886-888)ATC>ATG		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						157.0	159.0	158.0					8																	97316403		2203	4300	6503	SO:0001583	missense	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97316403C>G	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.888C>G	8.37:g.97316403C>G	ENSP00000430548:p.Ile296Met					PTDSS1_uc003yhu.1_Missense_Mutation_p.I150M	p.I296M	NM_014754	NP_055569	P48651	PTSS1_HUMAN			7	990	+	Breast(36;6.18e-05)		296			Helical; (Potential).		E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	c.888C>G	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.335774	0.41398	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.49432	0.82;0.82;0.78	5.81	4.01	0.46588	.	0.047817	0.85682	D	0.000000	T	0.38957	0.1060	L	0.35542	1.07	0.50313	D	0.99986	B	0.19445	0.036	B	0.36092	0.217	T	0.17289	-1.0374	10	0.32370	T	0.25	-31.5125	6.6691	0.23058	0.1444:0.6979:0.0:0.1576	.	296	P48651	PTSS1_HUMAN	M	296;150;93	ENSP00000430548:I296M;ENSP00000401248:I150M;ENSP00000430928:I93M	ENSP00000401248:I150M	I	+	3	3	PTDSS1	97385579	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.614000	0.36911	0.787000	0.33731	0.655000	0.94253	ATC		0.378	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			4	388	0	0	0	0	4	388				
VPS13B	157680	broad.mit.edu	37	8	100654191	100654191	+	Missense_Mutation	SNP	G	G	T	rs534024412		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:100654191G>T	ENST00000358544.2	+	34	5559	c.5448G>T	c.(5446-5448)caG>caT	p.Q1816H	VPS13B_ENST00000357162.2_Missense_Mutation_p.Q1791H|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1816					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTGCCAGTCAGCATCGCATTG	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		18390	0.0		0.0	False		,,,				2504	0.001				Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(5446-5448)CAG>CAT		vacuolar protein sorting 13B isoform 5							121.0	111.0	114.0					8																	100654191		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100654191G>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.5448G>T	8.37:g.100654191G>T	ENSP00000351346:p.Gln1816His					VPS13B_uc003yiw.2_Missense_Mutation_p.Q1791H	p.Q1816H	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		34	5559	+	Breast(36;3.73e-07)		1816					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.5448G>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901979	0.33535	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69306	-0.39;-0.39	5.93	2.09	0.27110	.	0.076831	0.56097	D	0.000025	T	0.40645	0.1125	N	0.12746	0.255	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.08493	-1.0719	10	0.32370	T	0.25	.	3.8826	0.09085	0.295:0.0:0.4518:0.2531	.	1791;1816	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	H	1791;1816	ENSP00000349685:Q1791H;ENSP00000351346:Q1816H	ENSP00000349685:Q1791H	Q	+	3	2	VPS13B	100723367	0.995000	0.38212	1.000000	0.80357	0.990000	0.78478	0.390000	0.20768	0.391000	0.25143	0.655000	0.94253	CAG		0.413	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		25	152	1	0	1.69e-08	1.76e-08	25	152				
UBR5	51366	broad.mit.edu	37	8	103289202	103289202	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:103289202G>A	ENST00000520539.1	-	45	7113	c.6507C>T	c.(6505-6507)ttC>ttT	p.F2169F	UBR5_ENST00000220959.4_Silent_p.F2169F|UBR5_ENST00000521922.1_Silent_p.F2163F	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2169					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)			GCAAATACCTGAAAGATGTGA	0.383																																					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.(6505-6507)TTC>TTT		ubiquitin protein ligase E3 component n-recognin							111.0	103.0	105.0					8																	103289202		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.chr8:103289202G>A	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.6507C>T	8.37:g.103289202G>A						UBR5_uc003yks.1_Silent_p.F2169F	p.F2169F	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		45	6540	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2169					B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	c.6507C>T	CCDS34933.1																																																																																				0.383	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		36	129	0	0	0	0	36	129				
UBR5	51366	broad.mit.edu	37	8	103323529	103323529	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:103323529C>G	ENST00000520539.1	-	20	3220	c.2614G>C	c.(2614-2616)Gag>Cag	p.E872Q	UBR5_ENST00000220959.4_Missense_Mutation_p.E872Q|UBR5_ENST00000521922.1_Missense_Mutation_p.E866Q	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	872					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)			CAAATTACCTCTACAGCCATG	0.333																																					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.(2614-2616)GAG>CAG		ubiquitin protein ligase E3 component n-recognin							69.0	74.0	72.0					8																	103323529		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103323529C>G	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.2614G>C	8.37:g.103323529C>G	ENSP00000429084:p.Glu872Gln					UBR5_uc003yks.1_Missense_Mutation_p.E872Q	p.E872Q	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		20	2647	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		872					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.2614G>C	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	33	5.220176	0.95139	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.46819	0.86;0.86;0.86	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.61739	0.2371	L	0.39898	1.24	0.80722	D	1	D;D	0.57899	0.981;0.981	D;D	0.65140	0.932;0.932	T	0.62576	-0.6825	10	0.72032	D	0.01	.	19.7693	0.96356	0.0:1.0:0.0:0.0	.	866;872	E7EMW7;O95071	.;UBR5_HUMAN	Q	872;872;866	ENSP00000429084:E872Q;ENSP00000220959:E872Q;ENSP00000427819:E866Q	ENSP00000220959:E872Q	E	-	1	0	UBR5	103392705	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.814000	0.86154	2.669000	0.90835	0.561000	0.74099	GAG		0.333	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		36	154	0	0	0	0	36	154				
PKHD1L1	93035	broad.mit.edu	37	8	110397821	110397821	+	Silent	SNP	T	T	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:110397821T>A	ENST00000378402.5	+	6	635	c.531T>A	c.(529-531)atT>atA	p.I177I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	177	IPT/TIG 2.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAAGTAATATTGCACTAAGCT	0.294										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(529-531)ATT>ATA		fibrocystin L precursor							63.0	63.0	63.0					8																	110397821		1804	4066	5870	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110397821T>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.531T>A	8.37:g.110397821T>A		HNSCC(38;0.096)					p.I177I	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		6	635	+			177			Extracellular (Potential).|IPT/TIG 2.		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.531T>A	CCDS47911.1																																																																																				0.294	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		12	81	0	0	0	0	12	81				
PKHD1L1	93035	broad.mit.edu	37	8	110476619	110476619	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:110476619G>C	ENST00000378402.5	+	49	7662	c.7558G>C	c.(7558-7560)Gat>Cat	p.D2520H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2520					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TATTATATATGATATTAAGGG	0.363										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(7558-7560)GAT>CAT		fibrocystin L precursor							64.0	61.0	62.0					8																	110476619		1825	4081	5906	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110476619G>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7558G>C	8.37:g.110476619G>C	ENSP00000367655:p.Asp2520His	HNSCC(38;0.096)					p.D2520H	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	7662	+			2520			PbH1 1.|Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.7558G>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553061	0.45487	.	.	ENSG00000205038	ENST00000378402	D	0.93247	-3.19	5.44	4.57	0.56435	Pectin lyase fold/virulence factor (1);	0.185706	0.46145	D	0.000311	D	0.92286	0.7553	M	0.63169	1.94	0.28159	N	0.929082	P	0.37612	0.602	B	0.41466	0.358	D	0.87890	0.2683	10	0.52906	T	0.07	.	11.9955	0.53201	0.0841:0.0:0.9159:0.0	.	2520	Q86WI1	PKHL1_HUMAN	H	2520	ENSP00000367655:D2520H	ENSP00000367655:D2520H	D	+	1	0	PKHD1L1	110545795	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.696000	0.47052	1.302000	0.44855	0.655000	0.94253	GAT		0.363	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		20	53	0	0	0	0	20	53				
CSMD3	114788	broad.mit.edu	37	8	113301749	113301749	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:113301749G>A	ENST00000297405.5	-	57	9237	c.8993C>T	c.(8992-8994)cCt>cTt	p.P2998L	CSMD3_ENST00000455883.2_Missense_Mutation_p.P2829L|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2928L|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2958L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2998	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGAACGCCAGGGTGTCCACA	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(8992-8994)CCT>CTT		CUB and Sushi multiple domains 3 isoform 1							54.0	46.0	49.0					8																	113301749		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113301749G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8993C>T	8.37:g.113301749G>A	ENSP00000297405:p.Pro2998Leu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.P2200L|CSMD3_uc003ynt.2_Missense_Mutation_p.P2958L|CSMD3_uc011lhx.1_Missense_Mutation_p.P2829L	p.P2998L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			57	9152	-			2998			Sushi 21.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.8993C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043988	0.93685	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82	6.01	6.01	0.97437	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.90683	0.7077	L	0.52126	1.63	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.964	D;D;P	0.97110	0.987;1.0;0.839	D	0.87713	0.2568	10	0.31617	T	0.26	.	20.5141	0.99211	0.0:0.0:1.0:0.0	.	2829;2998;2958	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	2958;2998;2268;2829;2928	ENSP00000345799:P2958L;ENSP00000297405:P2998L;ENSP00000341558:P2268L;ENSP00000412263:P2829L;ENSP00000343124:P2928L	ENSP00000297405:P2998L	P	-	2	0	CSMD3	113370925	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.835000	0.99442	2.850000	0.98022	0.655000	0.94253	CCT		0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		27	47	0	0	0	0	27	47				
CSMD3	114788	broad.mit.edu	37	8	113421233	113421233	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:113421233C>T	ENST00000297405.5	-	33	5668	c.5424G>A	c.(5422-5424)caG>caA	p.Q1808Q	CSMD3_ENST00000455883.2_Silent_p.Q1704Q|CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000343508.3_Silent_p.Q1768Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1808	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGAGTGATGTCTGGAAAAATA	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(5422-5424)CAG>CAA		CUB and Sushi multiple domains 3 isoform 1							145.0	133.0	137.0					8																	113421233		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113421233C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5424G>A	8.37:g.113421233C>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Silent_p.Q1768Q|CSMD3_uc011lhx.1_Silent_p.Q1704Q	p.Q1808Q	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			33	5583	-			1808			Extracellular (Potential).|CUB 10.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.5424G>A	CCDS6315.1																																																																																				0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		70	180	0	0	0	0	70	180				
CSMD3	114788	broad.mit.edu	37	8	114290824	114290824	+	Missense_Mutation	SNP	C	C	T	rs536561292		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:114290824C>T	ENST00000297405.5	-	3	755	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	CSMD3_ENST00000455883.2_Missense_Mutation_p.E171K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E171K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E131K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	171	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACTTACCTTCGTAATATACC	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C|||	1	0.000199681	0.0	0.0	5008	,	,		15815	0.001		0.0	False		,,,				2504	0.0					uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(511-513)GAA>AAA		CUB and Sushi multiple domains 3 isoform 1							112.0	94.0	100.0					8																	114290824		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114290824C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.511G>A	8.37:g.114290824C>T	ENSP00000297405:p.Glu171Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.E131K|CSMD3_uc011lhx.1_Missense_Mutation_p.E171K|CSMD3_uc010mcx.1_Missense_Mutation_p.E171K	p.E171K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			3	670	-			171			Extracellular (Potential).|CUB 1.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.511G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	5.150	0.213211	0.09757	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.03	5.03	0.67393	CUB (4);	0.000000	0.64402	D	0.000007	T	0.46171	0.1379	L	0.41824	1.3	0.40766	D	0.983044	D;D;D;D	0.76494	0.995;0.999;0.997;0.971	D;D;D;P	0.74023	0.956;0.982;0.967;0.508	T	0.31779	-0.9931	10	0.38643	T	0.18	.	16.2213	0.82258	0.0:1.0:0.0:0.0	.	171;171;171;131	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	K	131;171;171;171	ENSP00000345799:E131K;ENSP00000297405:E171K;ENSP00000412263:E171K;ENSP00000343124:E171K	ENSP00000297405:E171K	E	-	1	0	CSMD3	114360000	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	5.493000	0.66899	2.480000	0.83734	0.543000	0.68304	GAA		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		22	95	0	0	0	0	22	95				
SLC30A8	169026	broad.mit.edu	37	8	118184876	118184876	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:118184876G>C	ENST00000456015.2	+	8	1066	c.1066G>C	c.(1066-1068)Gac>Cac	p.D356H	SLC30A8_ENST00000519688.1_Missense_Mutation_p.D307H|SLC30A8_ENST00000427715.2_Missense_Mutation_p.D307H|SLC30A8_ENST00000521243.1_Missense_Mutation_p.D307H	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	356					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			ATCTCCAGTTGACCAGGACCC	0.507																																					Ovarian(162;1202 1922 6011 16223 52092)	uc003yoh.2		NA																	0				ovary(2)|skin(2)	4						c.(1066-1068)GAC>CAC		solute carrier family 30 member 8							151.0	133.0	139.0					8																	118184876		2203	4300	6503	SO:0001583	missense	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118184876G>C		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.1066G>C	8.37:g.118184876G>C	ENSP00000415011:p.Asp356His					SLC30A8_uc010mcz.2_Missense_Mutation_p.D307H|SLC30A8_uc011lia.1_Missense_Mutation_p.D307H|SLC30A8_uc003yog.2_Missense_Mutation_p.D307H	p.D356H	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		8	1296	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		356			Cytoplasmic (Potential).		A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	c.1066G>C	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669580	0.47677	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.65916	-0.14;-0.14;-0.14;-0.18	5.3	4.41	0.53225	.	0.047650	0.85682	D	0.000000	T	0.73313	0.3571	M	0.64997	1.995	0.58432	D	0.999994	D	0.64830	0.994	D	0.72075	0.976	T	0.72040	-0.4410	10	0.42905	T	0.14	-11.4337	11.2929	0.49261	0.089:0.0:0.9109:0.0	.	356	Q8IWU4	ZNT8_HUMAN	H	307;307;307;356	ENSP00000428545:D307H;ENSP00000407505:D307H;ENSP00000431069:D307H;ENSP00000415011:D356H	ENSP00000407505:D307H	D	+	1	0	SLC30A8	118254057	1.000000	0.71417	0.939000	0.37840	0.097000	0.18754	5.116000	0.64661	2.634000	0.89283	0.650000	0.86243	GAC		0.507	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		37	232	0	0	0	0	37	232				
WDYHV1	55093	broad.mit.edu	37	8	124449572	124449572	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:124449572G>C	ENST00000287387.2	+	5	631	c.506G>C	c.(505-507)gGa>gCa	p.G169A	WDYHV1_ENST00000518125.1_Missense_Mutation_p.G21A|WDYHV1_ENST00000523984.1_Missense_Mutation_p.G109A|WDYHV1_ENST00000523356.1_Missense_Mutation_p.G169A|WDYHV1_ENST00000517609.1_3'UTR	NM_018024.1	NP_060494.1	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	169					cellular protein modification process (GO:0006464)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein-N-terminal glutamine amidohydrolase activity (GO:0070773)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						ATTGAGACTGGAGGTGAGCCA	0.458																																						uc003yqn.1		NA																	0				ovary(1)|skin(1)	2						c.(505-507)GGA>GCA		WDYHV motif containing 1							46.0	46.0	46.0					8																	124449572		2203	4300	6503	SO:0001583	missense	55093				protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity	g.chr8:124449572G>C	AK001066	CCDS6344.1, CCDS64965.1	8q24.13	2008-10-01	2008-10-01	2008-10-01		ENSG00000156795			25490	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 32"""	C8orf32		12477932	Standard	NM_018024		Approved	FLJ10204	uc003yqn.1	Q96HA8		ENST00000287387.2:c.506G>C	8.37:g.124449572G>C	ENSP00000287387:p.Gly169Ala					WDYHV1_uc011lij.1_Missense_Mutation_p.G109A|WDYHV1_uc003yqo.1_RNA	p.G169A	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN			5	631	+			169					B4DE68|Q9NW95	Missense_Mutation	SNP	ENST00000287387.2	37	c.506G>C	CCDS6344.1	.	.	.	.	.	.	.	.	.	.	G	0.255	-1.003645	0.02128	.	.	ENSG00000156795	ENST00000287387;ENST00000523984;ENST00000523356;ENST00000518125	T;T;T;T	0.15718	2.4;2.4;2.4;2.4	5.63	3.73	0.42828	Protein N-terminal glutamine amidohydrolase, alpha beta roll (1);Protein N-terminal glutamine amidohydrolase (1);	0.183808	0.45606	D	0.000351	T	0.05502	0.0145	N	0.02736	-0.51	0.33935	D	0.642535	B	0.06786	0.001	B	0.08055	0.003	T	0.26326	-1.0106	10	0.06236	T	0.91	-4.5505	8.153	0.31152	0.0873:0.3112:0.6016:0.0	.	169	Q96HA8	NTAQ1_HUMAN	A	169;109;169;21	ENSP00000287387:G169A;ENSP00000430427:G109A;ENSP00000428615:G169A;ENSP00000429258:G21A	ENSP00000287387:G169A	G	+	2	0	WDYHV1	124518753	1.000000	0.71417	1.000000	0.80357	0.106000	0.19336	3.280000	0.51677	1.373000	0.46208	0.591000	0.81541	GGA		0.458	WDYHV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381772.1	NM_018024		7	69	0	0	0	0	7	69				
FER1L6	654463	broad.mit.edu	37	8	125022951	125022951	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:125022951C>A	ENST00000522917.1	+	14	2024	c.1818C>A	c.(1816-1818)ttC>ttA	p.F606L	FER1L6_ENST00000399018.1_Missense_Mutation_p.F606L|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	606						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGGCAGACTTCCTGGTAGGTG	0.488																																						uc003yqw.2		NA																	0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(1816-1818)TTC>TTA		fer-1-like 6							167.0	161.0	163.0					8																	125022951		2095	4245	6340	SO:0001583	missense	654463					integral to membrane		g.chr8:125022951C>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1818C>A	8.37:g.125022951C>A	ENSP00000428280:p.Phe606Leu					uc003yqx.1_Intron	p.F606L	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		14	2024	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		606			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000522917.1	37	c.1818C>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015906	0.35606	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.80304	-1.36;-1.36	5.33	-1.63	0.08345	.	2.018850	0.03623	N	0.236696	T	0.51092	0.1654	N	0.01352	-0.895	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.42999	-0.9418	10	0.38643	T	0.18	.	1.1977	0.01878	0.2242:0.3589:0.2201:0.1968	.	606	Q2WGJ9	FR1L6_HUMAN	L	606	ENSP00000428280:F606L;ENSP00000381982:F606L	ENSP00000381982:F606L	F	+	3	2	FER1L6	125092132	0.000000	0.05858	0.975000	0.42487	0.870000	0.49936	-0.698000	0.05092	-0.044000	0.13491	-0.137000	0.14449	TTC		0.488	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		9	407	1	0	0.000442599	0.000452143	9	407				
FER1L6	654463	broad.mit.edu	37	8	125103812	125103812	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:125103812G>A	ENST00000522917.1	+	34	4746	c.4540G>A	c.(4540-4542)Gaa>Aaa	p.E1514K	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.E1514K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1514						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TATCTTCACTGAAGAGGACAC	0.408																																						uc003yqw.2		NA																	0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(4540-4542)GAA>AAA		fer-1-like 6							100.0	91.0	94.0					8																	125103812		1845	4083	5928	SO:0001583	missense	654463					integral to membrane		g.chr8:125103812G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.4540G>A	8.37:g.125103812G>A	ENSP00000428280:p.Glu1514Lys					uc003yqy.1_Intron	p.E1514K	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		34	4746	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1514			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000522917.1	37	c.4540G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332268	0.41297	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.60040	0.22;0.22	5.68	4.81	0.61882	.	0.384064	0.23021	N	0.052859	T	0.37972	0.1023	N	0.21194	0.64	0.39911	D	0.974038	B	0.06786	0.001	B	0.06405	0.002	T	0.19192	-1.0313	10	0.07325	T	0.83	-19.4499	10.2496	0.43362	0.0709:0.1352:0.7938:0.0	.	1514	Q2WGJ9	FR1L6_HUMAN	K	1514	ENSP00000428280:E1514K;ENSP00000381982:E1514K	ENSP00000381982:E1514K	E	+	1	0	FER1L6	125172993	0.999000	0.42202	0.823000	0.32752	0.916000	0.54674	3.044000	0.49830	1.406000	0.46857	0.655000	0.94253	GAA		0.408	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		34	157	0	0	0	0	34	157				
FER1L6	654463	broad.mit.edu	37	8	125131944	125131944	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:125131944C>G	ENST00000522917.1	+	41	5693	c.5487C>G	c.(5485-5487)ttC>ttG	p.F1829L	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.F1829L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1829						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			tcattgctttcattctcatca	0.478																																						uc003yqw.2		NA																	0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(5485-5487)TTC>TTG		fer-1-like 6							235.0	247.0	243.0					8																	125131944		2081	4204	6285	SO:0001583	missense	654463					integral to membrane		g.chr8:125131944C>G	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5487C>G	8.37:g.125131944C>G	ENSP00000428280:p.Phe1829Leu					uc003yqy.1_Intron	p.F1829L	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		41	5693	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1829			Helical; (Potential).			Missense_Mutation	SNP	ENST00000522917.1	37	c.5487C>G	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	3.551	-0.091650	0.07053	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.78364	-1.17;-1.17	6.03	3.14	0.36123	.	0.428404	0.21783	U	0.069178	T	0.32466	0.0830	N	0.00268	-1.735	0.37589	D	0.920128	B	0.02656	0.0	B	0.04013	0.001	T	0.43605	-0.9381	10	0.02654	T	1	-8.4638	2.7522	0.05284	0.1313:0.4272:0.2876:0.1538	.	1829	Q2WGJ9	FR1L6_HUMAN	L	1829	ENSP00000428280:F1829L;ENSP00000381982:F1829L	ENSP00000381982:F1829L	F	+	3	2	FER1L6	125201125	0.990000	0.36364	0.995000	0.50966	0.802000	0.45316	0.471000	0.22100	0.886000	0.36113	0.655000	0.94253	TTC		0.478	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		62	270	0	0	0	0	62	270				
FAM135B	51059	broad.mit.edu	37	8	139190891	139190891	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:139190891C>G	ENST00000395297.1	-	10	1086	c.916G>C	c.(916-918)Gat>Cat	p.D306H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	306								p.D306N(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGGCCAGATCCTTGCTTATC	0.512										HNSCC(54;0.14)																												uc003yuy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(916-918)GAT>CAT		hypothetical protein LOC51059							144.0	141.0	142.0					8																	139190891		2046	4196	6242	SO:0001583	missense	51059							g.chr8:139190891C>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.916G>C	8.37:g.139190891C>G	ENSP00000378710:p.Asp306His	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.D207H|FAM135B_uc003yuz.2_RNA	p.D306H	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		10	1087	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		306					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.916G>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856906	0.71834	.	.	ENSG00000147724	ENST00000395297	T	0.79554	-1.28	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.88276	0.6393	M	0.61703	1.905	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.88744	0.3245	10	0.62326	D	0.03	-21.5161	16.7244	0.85417	0.0:1.0:0.0:0.0	.	306	Q49AJ0	F135B_HUMAN	H	306	ENSP00000378710:D306H	ENSP00000276737:D306H	D	-	1	0	FAM135B	139260073	1.000000	0.71417	0.998000	0.56505	0.616000	0.37450	4.060000	0.57477	2.616000	0.88540	0.561000	0.74099	GAT		0.512	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		21	72	0	0	0	0	21	72				
PTK2	5747	broad.mit.edu	37	8	141828403	141828403	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:141828403G>C	ENST00000522684.1	-	10	1069	c.840C>G	c.(838-840)atC>atG	p.I280M	PTK2_ENST00000517887.1_Missense_Mutation_p.I324M|PTK2_ENST00000521059.1_Missense_Mutation_p.I280M|PTK2_ENST00000340930.3_Missense_Mutation_p.I280M|PTK2_ENST00000535192.1_Missense_Mutation_p.I280M|PTK2_ENST00000395218.2_Missense_Mutation_p.I280M|PTK2_ENST00000519419.1_Missense_Mutation_p.I324M	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	280	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TTAGGTAACTGATTCCTTCTT	0.438																																						uc003yvu.2		NA																	0				ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(838-840)ATC>ATG		PTK2 protein tyrosine kinase 2 isoform a							138.0	118.0	125.0					8																	141828403		2203	4300	6503	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141828403G>C	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.840C>G	8.37:g.141828403G>C	ENSP00000429911:p.Ile280Met					PTK2_uc003yvq.2_Translation_Start_Site|PTK2_uc003yvr.2_Missense_Mutation_p.I179M|PTK2_uc003yvs.2_Missense_Mutation_p.I280M|PTK2_uc003yvt.2_Missense_Mutation_p.I302M|PTK2_uc003yvv.2_Missense_Mutation_p.I167M|PTK2_uc011ljr.1_Missense_Mutation_p.I280M	p.I280M	NM_153831	NP_722560	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		10	1070	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	280			FERM.		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.840C>G	CCDS6381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.4|25.4	4.638475|4.638475	0.87760|0.87760	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000340930;ENST00000519419;ENST00000342207|ENST00000519654	T;T;T;T;T;T;T|.	0.21361|.	2.01;2.01;2.01;2.01;2.01;2.01;2.01|.	5.95|5.95	5.95|5.95	0.96441|0.96441	FERM domain (1);|.	0.043292|.	0.85682|.	D|.	0.000000|.	T|T	0.77425|0.77425	0.4128|0.4128	M|M	0.84326|0.84326	2.69|2.69	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.76494|.	0.998;0.999;0.999;0.995;0.994;0.997|.	D;D;D;D;D;D|.	0.91635|.	0.999;0.995;0.999;0.993;0.997;0.993|.	T|T	0.78661|0.78661	-0.2117|-0.2117	10|5	0.87932|.	D|.	0|.	.|.	13.5674|13.5674	0.61826|0.61826	0.0707:0.0:0.9293:0.0|0.0707:0.0:0.9293:0.0	.|.	280;187;280;302;280;191|.	B4E2N6;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6|.	.;.;FAK1_HUMAN;.;.;.|.	M|E	280;280;324;280;190;280;187;280;324;98|291	ENSP00000429911:I280M;ENSP00000438009:I280M;ENSP00000429082:I324M;ENSP00000429474:I280M;ENSP00000378644:I280M;ENSP00000341189:I280M;ENSP00000429129:I324M|.	ENSP00000341189:I280M|.	I|Q	-|-	3|1	3|0	PTK2|PTK2	141897585|141897585	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.317000|7.317000	0.79018|0.79018	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	ATC|CAG		0.438	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		43	120	0	0	0	0	43	120				
ARC	23237	broad.mit.edu	37	8	143695306	143695306	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:143695306G>C	ENST00000356613.2	-	1	1527	c.327C>G	c.(325-327)gtC>gtG	p.V109V	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TCTCGCGCTTGACCCAGCGCT	0.682																																						uc003ywn.1		NA																	0				breast(1)	1						c.(325-327)GTC>GTG		activity-regulated cytoskeleton-associated							34.0	28.0	30.0					8																	143695306		2202	4300	6502	SO:0001819	synonymous_variant	23237				endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane		g.chr8:143695306G>C	AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.327C>G	8.37:g.143695306G>C							p.V109V	NM_015193	NP_056008	Q7LC44	ARC_HUMAN			1	528	-	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)	109					B4DFL0|O60937	Silent	SNP	ENST00000356613.2	37	c.327C>G	CCDS34950.1																																																																																				0.682	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2			6	38	0	0	0	0	6	38				
PUF60	22827	broad.mit.edu	37	8	144899226	144899226	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:144899226G>C	ENST00000526683.1	-	11	1789	c.1234C>G	c.(1234-1236)Ctc>Gtc	p.L412V	SCRIB_ENST00000356994.2_5'Flank|SCRIB_ENST00000377533.3_5'Flank|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000453551.2_Missense_Mutation_p.L369V|PUF60_ENST00000313352.7_Missense_Mutation_p.L352V|PUF60_ENST00000527197.1_Missense_Mutation_p.L366V|SCRIB_ENST00000320476.3_5'Flank|PUF60_ENST00000456095.2_Missense_Mutation_p.L383V|PUF60_ENST00000349157.6_Missense_Mutation_p.L395V	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	412	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGCTCCAGGAGACCCAGCGTT	0.622																																						uc003yzs.2		NA																	0					0						c.(1234-1236)CTC>GTC		poly-U binding splicing factor 60KDa isoform a							37.0	36.0	36.0					8																	144899226		2122	4258	6380	SO:0001583	missense	22827				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr8:144899226G>C	AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"""RNA binding motif (RRM) containing"""	17042	protein-coding gene	gene with protein product	"""siah binding protein 1"", ""FBP interacting repressor"", ""pyrimidine tract binding splicing factor"", ""Ro ribonucleoprotein binding protein 1"""	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.1234C>G	8.37:g.144899226G>C	ENSP00000434359:p.Leu412Val					SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Missense_Mutation_p.L352V|PUF60_uc003yzt.2_Missense_Mutation_p.L395V|PUF60_uc003yzq.2_Missense_Mutation_p.L369V|PUF60_uc003yzu.1_Missense_Mutation_p.L401V	p.L412V	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		11	1298	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		412			Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.		A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Missense_Mutation	SNP	ENST00000526683.1	37	c.1234C>G	CCDS47934.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.242144	0.22796	.	.	ENSG00000179950	ENST00000526683;ENST00000453551;ENST00000313352;ENST00000456095;ENST00000349157;ENST00000527197	T;T;T;T;T;T	0.13778	2.67;2.7;2.68;2.68;2.56;2.69	4.77	4.77	0.60923	.	0.693628	0.14172	N	0.336623	T	0.10165	0.0249	N	0.17082	0.46	0.41065	D	0.985402	B;B;B	0.25809	0.135;0.135;0.083	B;B;B	0.26969	0.075;0.075;0.034	T	0.22277	-1.0221	10	0.12766	T	0.61	.	16.7988	0.85609	0.0:0.0:1.0:0.0	.	383;395;412	Q9UHX1-5;Q9UHX1-2;Q9UHX1	.;.;PUF60_HUMAN	V	412;369;352;383;395;366	ENSP00000434359:L412V;ENSP00000402953:L369V;ENSP00000322016:L352V;ENSP00000395417:L383V;ENSP00000322036:L395V;ENSP00000431960:L366V	ENSP00000322016:L352V	L	-	1	0	PUF60	144971214	1.000000	0.71417	0.541000	0.28102	0.948000	0.59901	4.386000	0.59620	2.205000	0.71048	0.563000	0.77884	CTC		0.622	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382222.1	NM_014281		7	35	0	0	0	0	7	35				
EPPK1	83481	broad.mit.edu	37	8	144940991	144940991	+	Missense_Mutation	SNP	C	C	T	rs548952593		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:144940991C>T	ENST00000525985.1	-	2	6502	c.6431G>A	c.(6430-6432)aGa>aAa	p.R2144K				P58107	EPIPL_HUMAN	epiplakin 1	2144						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTGTGTGTTCTATACATCCT	0.507																																						uc003zaa.1		NA																	0				pancreas(1)|skin(1)	2						c.(6430-6432)AGA>AAA		epiplakin 1							217.0	223.0	221.0					8																	144940991		2082	4210	6292	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940991C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6431G>A	8.37:g.144940991C>T	ENSP00000436337:p.Arg2144Lys						p.R2144K	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	6444	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2144					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6431G>A		.	.	.	.	.	.	.	.	.	.	C	4.869	0.161471	0.09287	.	.	ENSG00000227184	ENST00000525985	T	0.65178	-0.14	4.39	-2.55	0.06288	.	.	.	.	.	T	0.28499	0.0705	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31447	-0.9943	9	0.02654	T	1	.	6.2768	0.20985	0.149:0.5157:0.0:0.3353	.	2144	E9PPU0	.	K	2144	ENSP00000436337:R2144K	ENSP00000436337:R2144K	R	-	2	0	EPPK1	145012979	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-0.087000	0.11215	-0.333000	0.08476	-0.384000	0.06662	AGA		0.507	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		74	387	0	0	0	0	74	387				
ZNF250	58500	broad.mit.edu	37	8	146107829	146107829	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:146107829C>G	ENST00000292579.7	-	6	870	c.754G>C	c.(754-756)Gag>Cag	p.E252Q	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.E247Q	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	252					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TAGGGCTTCTCACCTGTGTGA	0.483																																					NSCLC(16;520 556 24096 40084 43446)	uc003zeq.3		NA																	0					0						c.(754-756)GAG>CAG		zinc finger protein 250 isoform a							88.0	78.0	81.0					8																	146107829		2203	4300	6503	SO:0001583	missense	58500				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146107829C>G	AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"""Zinc fingers, C2H2-type"", ""-"""	13044	protein-coding gene	gene with protein product			"""zinc finger protein 647"""	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.754G>C	8.37:g.146107829C>G	ENSP00000292579:p.Glu252Gln					COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Missense_Mutation_p.E247Q|ZNF250_uc010mgg.2_Missense_Mutation_p.E247Q	p.E252Q	NM_021061	NP_066405	P15622	ZN250_HUMAN	Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)	6	871	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		252					D3DWP1|Q59HE9|Q8N942|Q96AH9	Missense_Mutation	SNP	ENST00000292579.7	37	c.754G>C	CCDS34972.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346101	0.82022	.	.	ENSG00000196150	ENST00000292579;ENST00000417550;ENST00000394912	T;T	0.25912	1.77;1.77	3.94	3.94	0.45596	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000145	T	0.43055	0.1230	L	0.43152	1.355	0.80722	D	1	D;P	0.71674	0.998;0.772	D;B	0.79784	0.993;0.349	T	0.41070	-0.9529	10	0.87932	D	0	-40.5786	15.944	0.79779	0.0:1.0:0.0:0.0	.	247;252	D3DWP1;P15622	.;ZN250_HUMAN	Q	252;247;247	ENSP00000292579:E252Q;ENSP00000393442:E247Q	ENSP00000292579:E252Q	E	-	1	0	ZNF250	146078633	0.929000	0.31497	0.952000	0.39060	0.982000	0.71751	2.041000	0.41213	2.511000	0.84671	0.313000	0.20887	GAG		0.483	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1	NM_021061		12	76	0	0	0	0	12	76				
ZNF250	58500	broad.mit.edu	37	8	146108151	146108151	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:146108151C>T	ENST00000292579.7	-	6	548	c.432G>A	c.(430-432)gtG>gtA	p.V144V	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Silent_p.V139V	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	144					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TCCCCAGAATCACTGTTTGCT	0.398																																					NSCLC(16;520 556 24096 40084 43446)	uc003zeq.3		NA																	0					0						c.(430-432)GTG>GTA		zinc finger protein 250 isoform a							170.0	178.0	175.0					8																	146108151		2203	4300	6503	SO:0001819	synonymous_variant	58500				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146108151C>T	AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"""Zinc fingers, C2H2-type"", ""-"""	13044	protein-coding gene	gene with protein product			"""zinc finger protein 647"""	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.432G>A	8.37:g.146108151C>T						COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Silent_p.V139V|ZNF250_uc010mgg.2_Silent_p.V139V	p.V144V	NM_021061	NP_066405	P15622	ZN250_HUMAN	Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)	6	549	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		144					D3DWP1|Q59HE9|Q8N942|Q96AH9	Silent	SNP	ENST00000292579.7	37	c.432G>A	CCDS34972.1																																																																																				0.398	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1	NM_021061		7	417	0	0	0	0	7	417				
DOCK8	81704	broad.mit.edu	37	9	376246	376246	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:376246G>A	ENST00000453981.1	+	19	2258	c.2146G>A	c.(2146-2148)Gaa>Aaa	p.E716K	DOCK8_ENST00000432829.2_Missense_Mutation_p.E648K|DOCK8_ENST00000469391.1_Missense_Mutation_p.E648K|DOCK8_ENST00000382329.1_Missense_Mutation_p.E183K|DOCK8_ENST00000382331.1_Missense_Mutation_p.E18K			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	716	DHR-1.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TAAGTGGGCTGAAGGACATAA	0.378																																						uc003zgf.2		NA																	0				ovary(3)|central_nervous_system(3)	6						c.(2146-2148)GAA>AAA		dedicator of cytokinesis 8							140.0	137.0	138.0					9																	376246		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:376246G>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2146G>A	9.37:g.376246G>A	ENSP00000408464:p.Glu716Lys					DOCK8_uc010mgu.2_Missense_Mutation_p.E18K|DOCK8_uc010mgv.2_Missense_Mutation_p.E648K|DOCK8_uc010mgw.1_Missense_Mutation_p.E18K|DOCK8_uc003zgk.2_Missense_Mutation_p.E174K|DOCK8_uc003zgh.2_RNA	p.E716K	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	19	2258	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	716					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.2146G>A	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	36	5.690132	0.96793	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.51822	0.1697	L	0.51914	1.62	0.80722	D	1	D;P;P;D	0.76494	0.999;0.947;0.947;0.987	D;P;P;D	0.67231	0.948;0.842;0.777;0.95	T	0.50524	-0.8818	10	0.87932	D	0	.	19.8078	0.96537	0.0:0.0:1.0:0.0	.	18;648;183;716	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	K	716;716;648;648;18;183	ENSP00000408464:E716K;ENSP00000394888:E648K;ENSP00000419438:E648K;ENSP00000371768:E18K;ENSP00000371766:E183K	ENSP00000287364:E716K	E	+	1	0	DOCK8	366246	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.675000	0.98638	2.661000	0.90470	0.650000	0.86243	GAA		0.378	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		7	152	0	0	0	0	7	152				
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1459	Whole gene deletion(1316)|Substitution - Nonsense(78)|Unknown(45)|Deletion - Frameshift(10)|Deletion - In frame(4)|Substitution - Missense(3)|Insertion - Frameshift(1)|Substitution - coding silent(1)|Complex - compound substitution(1)	p.0?(1112)|p.R58*(68)|p.?(14)|p.M53_R58del(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*89(1)|p.R58R(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.R58fs*61(1)|p.R58fs*62(1)|p.G55fs*86(1)|p.R58Q(1)|p.P113L(1)|p.A57fs*85(1)	haematopoietic_and_lymphoid_tissue(284)|skin(201)|central_nervous_system(167)|lung(154)|urinary_tract(94)|upper_aerodigestive_tract(78)|bone(74)|oesophagus(65)|soft_tissue(58)|pleura(51)|ovary(38)|pancreas(37)|kidney(32)|breast(32)|stomach(14)|thyroid(13)|NS(12)|biliary_tract(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|endometrium(3)|vulva(2)|prostate(2)|cervix(1)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM940227	CDKN2A	M	rs121913387	c.(172-174)CGA>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							7.0	9.0	8.0					9																	21971186		2034	4092	6126	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971186G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.172C>T	9.37:g.21971186G>A	ENSP00000307101:p.Arg58*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P113L	p.R58*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	384	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	58			ANK 2.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.172C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.893482|4.893482	0.91889|0.91889	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|.	0.75367|.	-0.93;-0.89|.	5.79|5.79	2.71|2.71	0.32032|0.32032	.|.	0.409080|.	0.18162|.	N|.	0.149742|.	T|.	0.29288|.	0.0729|.	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	P|.	0.44006|.	0.824|.	B|.	0.33121|.	0.158|.	T|.	0.21381|.	-1.0247|.	10|.	0.72032|0.13470	D|T	0.01|0.59	-3.0019|-3.0019	9.6681|9.6681	0.39996|0.39996	0.0:0.1288:0.474:0.3972|0.0:0.1288:0.474:0.3972	.|.	113|.	Q8N726|.	CD2A2_HUMAN|.	L|X	113;72|58	ENSP00000355153:P113L;ENSP00000432664:P72L|.	ENSP00000355153:P113L|ENSP00000307101:R58X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961186|21961186	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.277000|0.277000	0.26821|0.26821	0.096000|0.096000	0.15147|0.15147	0.738000|0.738000	0.32606|0.32606	0.555000|0.555000	0.69702|0.69702	CCG|CGA		0.677	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		6	6	0	0	0	0	6	6				
DDX58	23586	broad.mit.edu	37	9	32500912	32500912	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:32500912C>A	ENST00000379883.2	-	2	289	c.132G>T	c.(130-132)gaG>gaT	p.E44D	DDX58_ENST00000379882.1_Intron|DDX58_ENST00000545044.1_5'UTR|DDX58_ENST00000542096.1_5'UTR|DDX58_ENST00000379868.1_5'UTR	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	44	CARD 1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TGTTGTTTTTCTCAGCCTGAA	0.438																																						uc003zra.2		NA																	0				ovary(2)|liver(1)|pancreas(1)	4						c.(130-132)GAG>GAT		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide							97.0	97.0	97.0					9																	32500912		2203	4300	6503	SO:0001583	missense	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32500912C>A	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.132G>T	9.37:g.32500912C>A	ENSP00000369213:p.Glu44Asp					DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Intron|DDX58_uc011lnr.1_5'UTR|DDX58_uc010mji.2_5'UTR	p.E44D	NM_014314	NP_055129	O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	2	290	-			44			CARD 1.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	c.132G>T	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211424	0.39102	.	.	ENSG00000107201	ENST00000379883;ENST00000542960	T	0.04809	3.55	4.42	3.52	0.40303	.	0.097634	0.37483	N	0.002067	T	0.06188	0.0160	L	0.61036	1.89	0.80722	D	1	P	0.44241	0.829	B	0.40285	0.325	T	0.43972	-0.9358	10	0.23302	T	0.38	-12.4604	8.4139	0.32659	0.0:0.8927:0.0:0.1073	.	44	O95786	DDX58_HUMAN	D	44	ENSP00000369213:E44D	ENSP00000369213:E44D	E	-	3	2	DDX58	32490912	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.249000	0.51437	1.232000	0.43678	-0.136000	0.14681	GAG		0.438	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		8	95	1	0	0.00307968	0.003127	8	95				
NFX1	4799	broad.mit.edu	37	9	33366762	33366762	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:33366762A>T	ENST00000379540.3	+	22	3237	c.3175A>T	c.(3175-3177)Act>Tct	p.T1059S	NFX1_ENST00000463421.1_3'UTR	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	1059	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.				inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TGTGGTGGTCACTGCCATCAG	0.527																																						uc003zsq.2		NA																	0				ovary(1)	1						c.(3175-3177)ACT>TCT		nuclear transcription factor, X-box binding 1							87.0	69.0	75.0					9																	33366762		2203	4300	6503	SO:0001583	missense	4799				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:33366762A>T	U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.3175A>T	9.37:g.33366762A>T	ENSP00000368856:p.Thr1059Ser					SUGT1P1_uc010mjq.1_Intron|NFX1_uc003zsr.2_Missense_Mutation_p.T1060S	p.T1059S	NM_002504	NP_002495	Q12986	NFX1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	22	3236	+			1059			R3H.		A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	ENST00000379540.3	37	c.3175A>T	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	A	17.81	3.480236	0.63849	.	.	ENSG00000086102	ENST00000379540	T	0.47177	0.85	6.07	6.07	0.98685	Single-stranded nucleic acid binding R3H (3);	0.097504	0.64402	D	0.000001	T	0.40222	0.1108	L	0.38733	1.17	0.80722	D	1	B	0.22003	0.063	B	0.26693	0.072	T	0.20273	-1.0280	10	0.21540	T	0.41	-5.4921	14.5809	0.68288	1.0:0.0:0.0:0.0	.	1059	Q12986	NFX1_HUMAN	S	1059	ENSP00000368856:T1059S	ENSP00000368856:T1059S	T	+	1	0	NFX1	33356762	1.000000	0.71417	1.000000	0.80357	0.410000	0.31052	9.112000	0.94314	2.326000	0.78906	0.533000	0.62120	ACT		0.527	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1			14	20	0	0	0	0	14	20				
C9orf131	138724	broad.mit.edu	37	9	35043827	35043827	+	Missense_Mutation	SNP	G	G	C	rs375767664		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:35043827G>C	ENST00000312292.5	+	2	1248	c.1201G>C	c.(1201-1203)Gag>Cag	p.E401Q	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Missense_Mutation_p.E353Q|C9orf131_ENST00000354479.5_Missense_Mutation_p.E328Q	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	401										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ACTCCAGAGAGAGAGTTCCCT	0.532																																						uc003zvw.2		NA																	0					0						c.(1201-1203)GAG>CAG		hypothetical protein LOC138724 isoform A		G	GLN/GLU,GLN/GLU,GLN/GLU,GLN/GLU	0,4406		0,0,2203	75.0	85.0	82.0		1096,982,1057,1201	1.0	0.0	9		82	1,8599		0,1,4299	no	missense,missense,missense,missense	C9orf131	NM_001040410.1,NM_001040411.1,NM_001040412.1,NM_203299.2	29,29,29,29	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	366/1045,328/1007,353/1032,401/1080	35043827	1,13005	2203	4300	6503	SO:0001583	missense	138724							g.chr9:35043827G>C	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1201G>C	9.37:g.35043827G>C	ENSP00000308279:p.Glu401Gln					C9orf131_uc003zvu.2_Missense_Mutation_p.E353Q|C9orf131_uc003zvv.2_Missense_Mutation_p.E328Q|C9orf131_uc003zvx.2_Missense_Mutation_p.E366Q	p.E401Q	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	1230	+	all_epithelial(49;0.22)		401					A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	c.1201G>C	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283831	0.40394	0.0	1.16E-4	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292	T;T;T	0.15952	2.38;2.38;2.39	5.06	1.02	0.19986	.	1.146150	0.06421	N	0.722439	T	0.16085	0.0387	L	0.55481	1.735	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.08055	0.003;0.003;0.003	T	0.35773	-0.9775	10	0.24483	T	0.36	0.3127	5.5779	0.17233	0.1751:0.3079:0.517:0.0	.	401;328;353	Q5VYM1;A6NLE6;E9PB26	CI131_HUMAN;.;.	Q	353;328;401	ENSP00000393683:E353Q;ENSP00000346472:E328Q;ENSP00000308279:E401Q	ENSP00000308279:E401Q	E	+	1	0	C9orf131	35033827	0.001000	0.12720	0.001000	0.08648	0.455000	0.32408	0.107000	0.15375	0.298000	0.22638	-0.150000	0.13652	GAG		0.532	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		4	153	0	0	0	0	4	153				
PIGO	84720	broad.mit.edu	37	9	35092440	35092440	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:35092440G>C	ENST00000378617.3	-	7	1838	c.1444C>G	c.(1444-1446)Cta>Gta	p.L482V	PIGO_ENST00000341666.3_Missense_Mutation_p.L482V|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000298004.5_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	482					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTCAGGAGTAGAGGGCAGAAT	0.582																																						uc003zwd.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1444-1446)CTA>GTA		phosphatidylinositol glycan anchor biosynthesis,							69.0	74.0	72.0					9																	35092440		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35092440G>C	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1444C>G	9.37:g.35092440G>C	ENSP00000367880:p.Leu482Val					PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Intron|PIGO_uc003zwf.2_Intron|PIGO_uc003zwg.1_Missense_Mutation_p.L45V	p.L482V	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	1840	-			482			Helical; (Potential).		B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.1444C>G	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.447508	0.01089	.	.	ENSG00000165282	ENST00000378617;ENST00000341666	T;T	0.55234	0.53;0.53	5.2	3.32	0.38043	.	0.494410	0.21857	N	0.068088	T	0.46756	0.1409	M	0.66939	2.045	0.09310	N	0.999992	P	0.49090	0.919	B	0.42692	0.395	T	0.34976	-0.9807	10	0.17369	T	0.5	-0.4633	8.3505	0.32299	0.3101:0.0:0.6899:0.0	.	482	Q8TEQ8	PIGO_HUMAN	V	482	ENSP00000367880:L482V;ENSP00000339382:L482V	ENSP00000339382:L482V	L	-	1	2	PIGO	35082440	0.000000	0.05858	0.374000	0.26016	0.242000	0.25591	0.235000	0.17948	1.419000	0.47118	0.655000	0.94253	CTA		0.582	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		3	118	0	0	0	0	3	118				
SHB	6461	broad.mit.edu	37	9	37974647	37974647	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:37974647C>G	ENST00000377707.3	-	3	1591	c.1026G>C	c.(1024-1026)tgG>tgC	p.W342C	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	342	Mediates interaction with LAT, PTK2/FAK1, JAK1 and JAK3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TGACCCGGTTCCACTCCCAAG	0.657																																						uc004aax.2		NA																	0				central_nervous_system(2)|skin(1)	3						c.(1024-1026)TGG>TGC		Src homology 2 domain containing adaptor protein							61.0	68.0	65.0					9																	37974647		2055	4193	6248	SO:0001583	missense	6461				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity	g.chr9:37974647C>G		CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"""SH2 domain containing"""	10838	protein-coding gene	gene with protein product		600314	"""SHB adaptor protein (a Src homology 2 protein)"", ""SHB (Src homology 2 domain containing) adaptor protein B"""			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.1026G>C	9.37:g.37974647C>G	ENSP00000366936:p.Trp342Cys						p.W342C	NM_003028	NP_003019	Q15464	SHB_HUMAN		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)	3	1594	-		all_epithelial(88;0.122)	342			Mediates interaction with LAT, FAK1, JAK1 and JAK3.		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Missense_Mutation	SNP	ENST00000377707.3	37	c.1026G>C	CCDS43806.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772266	0.69992	.	.	ENSG00000107338	ENST00000377707	T	0.35421	1.31	5.83	4.93	0.64822	.	0.103337	0.43919	D	0.000510	T	0.50650	0.1628	M	0.68952	2.095	0.80722	D	1	D	0.69078	0.997	P	0.55667	0.781	T	0.55780	-0.8087	10	0.87932	D	0	-14.0711	12.7469	0.57285	0.0:0.9209:0.0:0.0791	.	342	Q15464	SHB_HUMAN	C	342	ENSP00000366936:W342C	ENSP00000366936:W342C	W	-	3	0	SHB	37964647	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.399000	0.79935	1.484000	0.48361	-0.140000	0.14226	TGG		0.657	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1			34	71	0	0	0	0	34	71				
ANKRD20A4	728747	broad.mit.edu	37	9	69423576	69423576	+	Silent	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:69423576G>C	ENST00000357336.3	+	15	2153	c.1872G>C	c.(1870-1872)gtG>gtC	p.V624V		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	624										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						GTGAAAGTGTGAAAACAGAAA	0.358																																						uc004afn.2		NA																	0					0						c.(1870-1872)GTG>GTC		ankyrin repeat domain 20 family, member A4							12.0	17.0	16.0					9																	69423576		2115	4229	6344	SO:0001819	synonymous_variant	728747							g.chr9:69423576G>C		CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"""Ankyrin repeat domain containing"""	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.1872G>C	9.37:g.69423576G>C						uc010mnx.1_5'Flank	p.V624V	NM_001098805	NP_001092275	Q4UJ75	A20A4_HUMAN			15	1984	+			624			Potential.			Silent	SNP	ENST00000357336.3	37	c.1872G>C	CCDS43828.1																																																																																				0.358	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143287.3	NM_001098805		25	72	0	0	0	0	25	72				
PGM5	5239	broad.mit.edu	37	9	71094415	71094415	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:71094415T>C	ENST00000396396.1	+	8	1470	c.1241T>C	c.(1240-1242)gTg>gCg	p.V414A		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	414					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						AAGCAGAGTGTGGAGGAAATT	0.522																																						uc004agr.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1240-1242)GTG>GCG		phosphoglucomutase 5							104.0	106.0	105.0					9																	71094415		2203	4300	6503	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71094415T>C	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1241T>C	9.37:g.71094415T>C	ENSP00000379678:p.Val414Ala						p.V414A	NM_021965	NP_068800	Q15124	PGM5_HUMAN			8	1470	+			414					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.1241T>C	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	T	27.2	4.807976	0.90707	.	.	ENSG00000154330	ENST00000396396	T	0.47177	0.85	5.3	5.3	0.74995	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.000000	0.85682	D	0.000000	T	0.72732	0.3497	M	0.88570	2.965	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.77996	-0.2377	10	0.56958	D	0.05	.	14.5246	0.67878	0.0:0.0:0.0:1.0	.	414	Q15124	PGM5_HUMAN	A	414	ENSP00000379678:V414A	ENSP00000379678:V414A	V	+	2	0	PGM5	70284235	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.821000	0.86641	2.131000	0.65755	0.460000	0.39030	GTG		0.522	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		44	115	0	0	0	0	44	115				
PIP5K1B	8395	broad.mit.edu	37	9	71509489	71509489	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:71509489G>A	ENST00000265382.3	+	8	1011	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.E236K	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	236	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)	p.E236K(1)		breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AGACATGCACGAAGGGTTGTA	0.423																																						uc004agu.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	stomach(1)	1						c.(706-708)GAA>AAA		phosphatidylinositol-4-phosphate 5-kinase, type							98.0	88.0	92.0					9																	71509489		2203	4300	6503	SO:0001583	missense	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71509489G>A	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.706G>A	9.37:g.71509489G>A	ENSP00000265382:p.Glu236Lys					PIP5K1B_uc011lrq.1_Missense_Mutation_p.E236K|PIP5K1B_uc004agv.2_RNA	p.E236K	NM_003558	NP_003549	O14986	PI51B_HUMAN		Lung(182;0.133)	8	1011	+			236			PIPK.		A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Missense_Mutation	SNP	ENST00000265382.3	37	c.706G>A	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711268	0.68730	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747	T;T	0.35236	1.32;1.32	5.82	5.82	0.92795	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.131911	0.64402	D	0.000002	T	0.36552	0.0971	L	0.50333	1.59	0.49130	D	0.999754	B	0.32717	0.381	B	0.25884	0.064	T	0.19877	-1.0292	10	0.66056	D	0.02	-15.2404	20.1142	0.97922	0.0:0.0:1.0:0.0	.	236	O14986	PI51B_HUMAN	K	236;236;236;183	ENSP00000438082:E236K;ENSP00000265382:E236K	ENSP00000265382:E236K	E	+	1	0	PIP5K1B	70699309	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	6.580000	0.74040	2.765000	0.95021	0.650000	0.86243	GAA		0.423	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		44	135	0	0	0	0	44	135				
PRKACG	5568	broad.mit.edu	37	9	71628520	71628520	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:71628520G>A	ENST00000377276.2	-	1	519	c.489C>T	c.(487-489)ctC>ctT	p.L163L		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	163	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CGCGGTGGATGAGGTCGAGCG	0.627																																					Esophageal Squamous(110;2236 2623 32146)	uc004agy.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(487-489)CTC>CTT		protein kinase, cAMP-dependent, catalytic,							50.0	44.0	46.0					9																	71628520		2203	4300	6503	SO:0001819	synonymous_variant	5568				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	g.chr9:71628520G>A	M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.489C>T	9.37:g.71628520G>A							p.L163L	NM_002732	NP_002723	P22612	KAPCG_HUMAN			1	520	-			163			Protein kinase.		O60850|Q5VZ02|Q86YI1	Silent	SNP	ENST00000377276.2	37	c.489C>T	CCDS6625.1																																																																																				0.627	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			8	23	0	0	0	0	8	23				
APBA1	320	broad.mit.edu	37	9	72132030	72132030	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:72132030C>T	ENST00000265381.4	-	2	319	c.97G>A	c.(97-99)Gag>Aag	p.E33K		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	33					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCTTCCACCTCGGGGTGCTCC	0.701																																						uc004ahh.2		NA																	0				lung(1)	1						c.(97-99)GAG>AAG		amyloid beta A4 precursor protein-binding,																																				SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72132030C>T	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.97G>A	9.37:g.72132030C>T	ENSP00000265381:p.Glu33Lys						p.E33K	NM_001163	NP_001154	Q02410	APBA1_HUMAN			2	373	-			33					O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.97G>A	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631920	0.29068	.	.	ENSG00000107282	ENST00000265381	T	0.04502	3.61	5.19	5.19	0.71726	.	0.479538	0.21112	N	0.079967	T	0.04679	0.0127	N	0.24115	0.695	0.32686	N	0.514797	B	0.32731	0.382	B	0.17098	0.017	T	0.14090	-1.0485	10	0.72032	D	0.01	.	18.7323	0.91739	0.0:1.0:0.0:0.0	.	33	Q02410	APBA1_HUMAN	K	33	ENSP00000265381:E33K	ENSP00000265381:E33K	E	-	1	0	APBA1	71321850	1.000000	0.71417	0.997000	0.53966	0.169000	0.22640	3.215000	0.51169	2.437000	0.82529	0.655000	0.94253	GAG		0.701	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		7	3	0	0	0	0	7	3				
TMEM2	23670	broad.mit.edu	37	9	74365160	74365160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:74365160G>A	ENST00000377044.4	-	2	669	c.130C>T	c.(130-132)Caa>Taa	p.Q44*	TMEM2_ENST00000377066.5_Nonsense_Mutation_p.Q44*	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	44					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GCTGAAGCTTGACTCTTTGGA	0.507																																						uc011lsa.1		NA																	0				ovary(2)	2						c.(130-132)CAA>TAA		transmembrane protein 2 isoform a							126.0	120.0	122.0					9																	74365160		2203	4300	6503	SO:0001587	stop_gained	23670					integral to membrane		g.chr9:74365160G>A		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.130C>T	9.37:g.74365160G>A	ENSP00000366243:p.Gln44*					TMEM2_uc010mos.2_Nonsense_Mutation_p.Q44*|TMEM2_uc011lsb.1_RNA	p.Q44*	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	2	670	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	44					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Nonsense_Mutation	SNP	ENST00000377044.4	37	c.130C>T	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516086	0.85495	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	.	.	.	5.16	5.16	0.70880	.	0.238346	0.43747	D	0.000534	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	19.2125	0.93763	0.0:0.0:1.0:0.0	.	.	.	.	X	44	.	ENSP00000366243:Q44X	Q	-	1	0	TMEM2	73554980	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.794000	0.69067	2.840000	0.97914	0.655000	0.94253	CAA		0.507	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		30	109	0	0	0	0	30	109				
TMC1	117531	broad.mit.edu	37	9	75435903	75435903	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:75435903C>T	ENST00000297784.5	+	20	2449	c.1909C>T	c.(1909-1911)Ctg>Ttg	p.L637L	TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Silent_p.L637L|TMC1_ENST00000396237.3_Silent_p.L637L	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	637					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TAACTTCTACCTGGGCATGCT	0.493																																					Pancreas(75;173 1345 14232 34245 43413)	uc004aiz.1		NA																	0				ovary(1)	1						c.(1909-1911)CTG>TTG		transmembrane channel-like 1							240.0	205.0	217.0					9																	75435903		2203	4300	6503	SO:0001819	synonymous_variant	117531				sensory perception of sound	integral to membrane		g.chr9:75435903C>T	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.1909C>T	9.37:g.75435903C>T						TMC1_uc010moz.1_Silent_p.L595L|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Silent_p.L491L|TMC1_uc010mpa.1_Silent_p.L491L	p.L637L	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN			20	2449	+			637			Helical; (Potential).		A8MVZ2|B1AM91	Silent	SNP	ENST00000297784.5	37	c.1909C>T	CCDS6643.1																																																																																				0.493	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			107	249	0	0	0	0	107	249				
VPS13A	23230	broad.mit.edu	37	9	79834959	79834959	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:79834959G>C	ENST00000360280.3	+	11	1104	c.844G>C	c.(844-846)Gag>Cag	p.E282Q	VPS13A_ENST00000376636.3_Missense_Mutation_p.E282Q|VPS13A_ENST00000357409.5_Missense_Mutation_p.E282Q|VPS13A_ENST00000376634.4_Missense_Mutation_p.E282Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	282					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTTGGAAATTGAGTTACATAA	0.294																																						uc004akr.2		NA																	0				pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(844-846)GAG>CAG		vacuolar protein sorting 13A isoform A							64.0	64.0	64.0					9																	79834959		2203	4298	6501	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79834959G>C	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.844G>C	9.37:g.79834959G>C	ENSP00000353422:p.Glu282Gln					VPS13A_uc004akp.3_Missense_Mutation_p.E282Q|VPS13A_uc004akq.3_Missense_Mutation_p.E282Q|VPS13A_uc004aks.2_Missense_Mutation_p.E282Q	p.E282Q	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			11	1104	+			282					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.844G>C	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832186	0.71258	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.50277	0.92;0.75;0.83;0.91	5.49	3.62	0.41486	.	0.170193	0.49305	D	0.000142	T	0.52041	0.1710	M	0.71036	2.16	0.80722	D	1	D;P;P;P	0.53312	0.959;0.593;0.907;0.846	P;B;B;B	0.54100	0.742;0.28;0.371;0.371	T	0.47983	-0.9074	10	0.27082	T	0.32	.	5.6724	0.17729	0.3203:0.0:0.6797:0.0	.	282;282;282;282	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	Q	282	ENSP00000365821:E282Q;ENSP00000365823:E282Q;ENSP00000353422:E282Q;ENSP00000349985:E282Q	ENSP00000349985:E282Q	E	+	1	0	VPS13A	79024779	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.755000	0.68750	2.591000	0.87537	0.561000	0.74099	GAG		0.294	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		37	85	0	0	0	0	37	85				
TLE4	7091	broad.mit.edu	37	9	82323642	82323642	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:82323642C>G	ENST00000376552.2	+	13	2222	c.1204C>G	c.(1204-1206)Cag>Gag	p.Q402E	TLE4_ENST00000376537.4_Missense_Mutation_p.Q434E|TLE4_ENST00000265284.6_Missense_Mutation_p.Q377E|TLE4_ENST00000376544.3_Missense_Mutation_p.Q333E|TLE4_ENST00000376520.4_Missense_Mutation_p.Q434E|TLE4_ENST00000376534.4_Missense_Mutation_p.Q39E	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	402					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CATCTCCCCTCAGATGAGCGC	0.572																																						uc004ald.2		NA																	0				lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(1279-1281)CAG>GAG		transducin-like enhancer protein 4							33.0	38.0	36.0					9																	82323642		1980	4194	6174	SO:0001583	missense	7091							g.chr9:82323642C>G	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1204C>G	9.37:g.82323642C>G	ENSP00000365735:p.Gln402Glu					TLE4_uc004alc.2_Missense_Mutation_p.Q402E|TLE4_uc010mpr.2_Missense_Mutation_p.Q281E|TLE4_uc004ale.2_Missense_Mutation_p.Q39E|TLE4_uc011lsq.1_Missense_Mutation_p.Q370E|TLE4_uc010mps.2_Missense_Mutation_p.Q326E|TLE4_uc004alf.2_Missense_Mutation_p.Q341E	p.Q427E	NM_007005	NP_008936	O60756	BCE1_HUMAN			14	2128	+			Error:Variant_position_missing_in_O60756_after_alignment					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.1279C>G	CCDS43837.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.6|29.6	5.016042|5.016042	0.93404|0.93404	.|.	.|.	ENSG00000106829|ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284;ENST00000490347;ENST00000467142|ENST00000496114	T;T;T;T;T;T;T;T|.	0.50813|.	0.82;0.92;0.95;0.95;0.73;0.89;1.39;1.01|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.81851|.	0.4910|.	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	B;P;B;P|.	0.43578|.	0.433;0.811;0.399;0.469|.	B;P;B;B|.	0.54924|.	0.287;0.764;0.287;0.15|.	T|.	0.79603|.	-0.1735|.	10|.	0.62326|.	D|.	0.03|.	-21.877|-21.877	20.8598|20.8598	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	377;333;434;402|.	F8W6T6;Q04727-2;Q04727-3;Q04727|.	.;.;.;TLE4_HUMAN|.	E|X	402;333;434;434;39;377;221;130|192	ENSP00000365735:Q402E;ENSP00000365727:Q333E;ENSP00000365703:Q434E;ENSP00000365720:Q434E;ENSP00000365717:Q39E;ENSP00000265284:Q377E;ENSP00000417844:Q221E;ENSP00000418409:Q130E|.	ENSP00000265284:Q377E|.	Q|S	+|+	1|2	0|0	TLE4|TLE4	81513462|81513462	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.975000|0.975000	0.68041|0.68041	7.776000|7.776000	0.85560|0.85560	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CAG|TCA		0.572	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		19	41	0	0	0	0	19	41				
TLE1	7088	broad.mit.edu	37	9	84205745	84205745	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:84205745C>G	ENST00000376499.3	-	16	2868	c.1804G>C	c.(1804-1806)Gat>Cat	p.D602H		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	602					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TTGTGCAGATCCCACACAGCG	0.597																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	uc004aly.2		NA																	0				ovary(1)|skin(1)	2						c.(1804-1806)GAT>CAT		transducin-like enhancer protein 1							104.0	94.0	97.0					9																	84205745		2203	4300	6503	SO:0001583	missense	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84205745C>G		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1804G>C	9.37:g.84205745C>G	ENSP00000365682:p.Asp602His					TLE1_uc004alz.2_Missense_Mutation_p.D612H|TLE1_uc011lsr.1_Missense_Mutation_p.D587H|TLE1_uc004ama.1_Missense_Mutation_p.D601H	p.D602H	NM_005077	NP_005068	Q04724	TLE1_HUMAN			16	2245	-			602			WD 3.		A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	37	c.1804G>C	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	c	32	5.181472	0.94885	.	.	ENSG00000196781	ENST00000376499	T	0.69435	-0.4	5.96	5.96	0.96718	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86736	0.6004	M	0.91090	3.175	0.80722	D	1	D;D;D	0.89917	0.981;1.0;1.0	P;D;D	0.97110	0.815;1.0;0.996	D	0.88424	0.3030	10	0.87932	D	0	-28.2685	20.422	0.99049	0.0:1.0:0.0:0.0	.	587;628;602	B4DEF9;Q59EF7;Q04724	.;.;TLE1_HUMAN	H	602	ENSP00000365682:D602H	ENSP00000365682:D602H	D	-	1	0	TLE1	83395565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	GAT		0.597	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		46	130	0	0	0	0	46	130				
SPATA31D1	389763	broad.mit.edu	37	9	84605884	84605884	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:84605884G>C	ENST00000344803.2	+	4	546	c.499G>C	c.(499-501)Gag>Cag	p.E167Q		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	167					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTCTGCGACTGAGTCATCGTT	0.552																																						uc004amn.2		NA																	0					0						c.(499-501)GAG>CAG		hypothetical protein LOC389763							121.0	121.0	121.0					9																	84605884		2007	4171	6178	SO:0001583	missense	389763					integral to membrane		g.chr9:84605884G>C		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.499G>C	9.37:g.84605884G>C	ENSP00000341988:p.Glu167Gln						p.E167Q	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	546	+			167						Missense_Mutation	SNP	ENST00000344803.2	37	c.499G>C	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986400	0.35036	.	.	ENSG00000214929	ENST00000344803	T	0.07021	3.23	2.8	0.885	0.19188	.	1.391060	0.05235	N	0.511109	T	0.12390	0.0301	L	0.43152	1.355	0.09310	N	1	P	0.50528	0.936	P	0.50270	0.636	T	0.24977	-1.0145	10	0.42905	T	0.14	-2.4044	4.9642	0.14082	0.3006:0.0:0.6994:0.0	.	167	Q6ZQQ2	F75D1_HUMAN	Q	167	ENSP00000341988:E167Q	ENSP00000341988:E167Q	E	+	1	0	FAM75D1	83795704	0.020000	0.18652	0.000000	0.03702	0.001000	0.01503	1.261000	0.32980	0.260000	0.21731	0.597000	0.82753	GAG		0.552	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		27	81	0	0	0	0	27	81				
DAPK1	1612	broad.mit.edu	37	9	90321338	90321338	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:90321338G>A	ENST00000408954.3	+	26	3687	c.3352G>A	c.(3352-3354)Gat>Aat	p.D1118N	DAPK1_ENST00000469640.2_Missense_Mutation_p.D1143N|DAPK1_ENST00000358077.5_Missense_Mutation_p.D1118N|DAPK1_ENST00000491893.1_Missense_Mutation_p.D1052N|DAPK1_ENST00000472284.1_Missense_Mutation_p.D1118N	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1118					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CTCCTGGGCTGATGAGGAGGA	0.617									Chronic Lymphocytic Leukemia, Familial Clustering of																													uc004apc.2		NA																	0				ovary(1)|breast(1)	2						c.(3352-3354)GAT>AAT		death-associated protein kinase 1							95.0	108.0	103.0					9																	90321338		2197	4293	6490	SO:0001583	missense	1612	Chronic_Lymphocytic_Leukemia_Familial_Clustering_of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90321338G>A	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.3352G>A	9.37:g.90321338G>A	ENSP00000386135:p.Asp1118Asn					DAPK1_uc004apd.2_Missense_Mutation_p.D1118N|DAPK1_uc011ltg.1_Missense_Mutation_p.D1052N|DAPK1_uc011lth.1_Missense_Mutation_p.D855N|DAPK1_uc004apg.2_Missense_Mutation_p.D95N	p.D1118N	NM_004938	NP_004929	P53355	DAPK1_HUMAN			26	3490	+			1118					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.3352G>A	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.546940	0.45383	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.66280	-0.19;-0.19;-0.2;-0.19;-0.2	5.83	5.83	0.93111	.	0.000000	0.53938	D	0.000054	T	0.58018	0.2093	L	0.44542	1.39	0.80722	D	1	P;P;P	0.44946	0.608;0.846;0.608	B;B;B	0.39805	0.306;0.31;0.306	T	0.57219	-0.7849	10	0.35671	T	0.21	.	20.1218	0.97964	0.0:0.0:1.0:0.0	.	1052;1118;1118	B7ZLE7;P53355-3;P53355	.;.;DAPK1_HUMAN	N	1118;1118;1143;1118;1052	ENSP00000350785:D1118N;ENSP00000417076:D1118N;ENSP00000418885:D1143N;ENSP00000386135:D1118N;ENSP00000419026:D1052N	ENSP00000350785:D1118N	D	+	1	0	DAPK1	89511158	1.000000	0.71417	0.046000	0.18839	0.267000	0.26476	9.624000	0.98398	2.763000	0.94921	0.561000	0.74099	GAT		0.617	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		10	33	0	0	0	0	10	33				
C9orf47	286223	broad.mit.edu	37	9	91606129	91606129	+	Silent	SNP	G	G	A	rs542361091		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:91606129G>A	ENST00000334490.5	+	1	287	c.219G>A	c.(217-219)ccG>ccA	p.P73P	S1PR3_ENST00000358157.2_5'Flank|C9orf47_ENST00000375850.3_Intron|C9orf47_ENST00000375851.2_Intron			Q6ZRZ4	CI047_HUMAN	chromosome 9 open reading frame 47	73						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						AACAGGGGCCGAAGGGCGAGC	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		6922	0.0		0.0	False		,,,				2504	0.001					uc004aqd.2		NA																	0					0						c.(217-219)CCG>CCA		hypothetical protein LOC286223 isoform 1							5.0	7.0	7.0					9																	91606129		2101	4152	6253	SO:0001819	synonymous_variant	286223					extracellular region		g.chr9:91606129G>A	AK094842	CCDS35062.1, CCDS47989.1	9q22.1	2008-02-05	2004-11-04		ENSG00000186354	ENSG00000186354			23669	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 108"""	C9orf108			Standard	NM_001001938		Approved	FLJ37523, bA791O21.3	uc004aqc.2	Q6ZRZ4	OTTHUMG00000020172	ENST00000334490.5:c.219G>A	9.37:g.91606129G>A						S1PR3_uc004aqe.2_5'Flank|C9orf47_uc004aqc.1_Intron	p.P73P	NM_001001938	NP_001001938	Q6ZRZ4	CI047_HUMAN			1	352	+			73					B7ZMC7|Q5SQD7|Q7Z568|Q8N1V4	Silent	SNP	ENST00000334490.5	37	c.219G>A	CCDS35062.1																																																																																				0.706	C9orf47-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355972.1	NM_182599		7	7	0	0	0	0	7	7				
BICD2	23299	broad.mit.edu	37	9	95482755	95482755	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:95482755C>T	ENST00000375512.3	-	4	956	c.889G>A	c.(889-891)Gag>Aag	p.E297K	BICD2_ENST00000356884.6_Missense_Mutation_p.E297K	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	297					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						ACCAGGGCCTCGGCATCGTTG	0.612																																						uc004aso.1		NA																	0				skin(1)	1						c.(889-891)GAG>AAG		bicaudal D homolog 2 isoform 2							133.0	123.0	127.0					9																	95482755		2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95482755C>T	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.889G>A	9.37:g.95482755C>T	ENSP00000364662:p.Glu297Lys					BICD2_uc004asp.1_Missense_Mutation_p.E297K	p.E297K	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN			4	946	-			297					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.889G>A	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.483562	0.26598	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.51574	0.7;0.7	5.04	4.12	0.48240	.	0.102562	0.64402	D	0.000005	T	0.25901	0.0631	N	0.16656	0.425	0.38941	D	0.958141	P;P	0.50617	0.937;0.897	B;B	0.39706	0.307;0.266	T	0.07539	-1.0767	10	0.09843	T	0.71	-27.7215	10.8286	0.46647	0.0:0.9075:0.0:0.0925	.	297;297	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	K	297	ENSP00000349351:E297K;ENSP00000364662:E297K	ENSP00000349351:E297K	E	-	1	0	BICD2	94522576	1.000000	0.71417	0.932000	0.37286	0.675000	0.39556	4.671000	0.61590	2.517000	0.84864	0.650000	0.86243	GAG		0.612	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		44	89	0	0	0	0	44	89				
WNK2	65268	broad.mit.edu	37	9	96055302	96055302	+	Missense_Mutation	SNP	C	C	T	rs568296567	byFrequency	TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:96055302C>T	ENST00000297954.4	+	23	5666	c.5666C>T	c.(5665-5667)tCg>tTg	p.S1889L	WNK2_ENST00000427277.2_Missense_Mutation_p.S1464L|WNK2_ENST00000395477.2_Missense_Mutation_p.S1852L|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.S1501L|WNK2_ENST00000356055.3_Splice_Site_p.S214L	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1889					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CGGGCCGGCTCGCTGGGCCCC	0.652													C|||	2	0.000399361	0.0	0.0	5008	,	,		13646	0.002		0.0	False		,,,				2504	0.0					uc004ati.1		NA																	0				lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						c.(5665-5667)TCG>TTG		WNK lysine deficient protein kinase 2							19.0	23.0	22.0					9																	96055302		2203	4297	6500	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96055302C>T	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.5666C>T	9.37:g.96055302C>T	ENSP00000297954:p.Ser1889Leu					WNK2_uc011lud.1_Missense_Mutation_p.S1852L|WNK2_uc004atj.2_Missense_Mutation_p.S1852L|WNK2_uc004atk.2_Missense_Mutation_p.S1489L|WNK2_uc004atl.1_Missense_Mutation_p.S446L	p.S1889L	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN			23	5666	+			1889					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.5666C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.63|15.63	2.891625|2.891625	0.52014|0.52014	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000432730;ENST00000448251;ENST00000453718|ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277;ENST00000356055	.|T;T;T;T;D	.|0.85484	.|-0.92;-0.89;-0.27;-0.25;-1.99	5.11|5.11	4.2|4.2	0.49525|0.49525	.|.	.|0.676722	.|0.15163	.|N	.|0.277053	D|D	0.88280|0.88280	0.6394|0.6394	L|L	0.39245|0.39245	1.2|1.2	0.40421|0.40421	D|D	0.979842|0.979842	.|D;D;B;D;D	.|0.76494	.|0.968;0.999;0.032;0.999;0.999	.|P;D;B;D;D	.|0.75484	.|0.712;0.986;0.002;0.975;0.978	D|D	0.86877|0.86877	0.2039|0.2039	5|10	.|0.42905	.|T	.|0.14	.|.	13.0237|13.0237	0.58802|0.58802	0.0:0.9221:0.0:0.0779|0.0:0.9221:0.0:0.0779	.|.	.|1852;1847;1455;1852;1889	.|Q9Y3S1-2;A6PVR3;A6PVR4;F8W9F9;Q9Y3S1	.|.;.;.;.;WNK2_HUMAN	C|L	1848;649;374|1889;1852;1501;1464;214	.|ENSP00000297954:S1889L;ENSP00000378860:S1852L;ENSP00000297876:S1501L;ENSP00000411181:S1464L;ENSP00000348347:S214L	.|ENSP00000297954:S1889L	R|S	+|+	1|2	0|0	WNK2|WNK2	95095123|95095123	0.978000|0.978000	0.34361|0.34361	0.410000|0.410000	0.26471|0.26471	0.033000|0.033000	0.12548|0.12548	2.970000|2.970000	0.49240|0.49240	2.368000|2.368000	0.80403|0.80403	0.555000|0.555000	0.69702|0.69702	CGC|TCG		0.652	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		19	28	0	0	0	0	19	28				
ALDOB	229	broad.mit.edu	37	9	104192167	104192167	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:104192167G>A	ENST00000374855.4	-	3	318	c.194C>T	c.(193-195)tCt>tTt	p.S65F	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	65					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				ACTGTCCACAGAGAAGAGGAT	0.547																																						uc004bbk.2		NA																	0				skin(1)	1						c.(193-195)TCT>TTT		aldolase B, fructose-bisphosphate							149.0	144.0	146.0					9																	104192167		2203	4300	6503	SO:0001583	missense	229				fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	g.chr9:104192167G>A	X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.194C>T	9.37:g.104192167G>A	ENSP00000363988:p.Ser65Phe						p.S65F	NM_000035	NP_000026	P05062	ALDOB_HUMAN			3	276	-		Acute lymphoblastic leukemia(62;0.0559)	65					Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	ENST00000374855.4	37	c.194C>T	CCDS6756.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733760	0.69189	.	.	ENSG00000136872	ENST00000374855;ENST00000430164	D	0.86562	-2.14	5.94	1.74	0.24563	Aldolase-type TIM barrel (1);	0.465256	0.26126	N	0.026189	D	0.92195	0.7525	M	0.80847	2.515	0.37142	D	0.901768	P	0.36789	0.57	P	0.52159	0.691	D	0.94154	0.7408	10	0.87932	D	0	-7.9384	17.4723	0.87649	0.0:0.4937:0.5063:0.0	.	65	P05062	ALDOB_HUMAN	F	65	ENSP00000363988:S65F	ENSP00000363988:S65F	S	-	2	0	ALDOB	103231988	0.885000	0.30320	0.490000	0.27465	0.915000	0.54546	2.726000	0.47302	0.373000	0.24621	-0.172000	0.13284	TCT		0.547	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			73	196	0	0	0	0	73	196				
ABCA1	19	broad.mit.edu	37	9	107578492	107578492	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:107578492C>T	ENST00000374736.3	-	25	4064	c.3670G>A	c.(3670-3672)Gag>Aag	p.E1224K		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1224					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TCATCAATCTCATGAAAGAGT	0.493																																						uc004bcl.2		NA																	0				large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(3670-3672)GAG>AAG		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						148.0	152.0	150.0					9																	107578492		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107578492C>T	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.3670G>A	9.37:g.107578492C>T	ENSP00000363868:p.Glu1224Lys						p.E1224K	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	25	3983	-			1224					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.3670G>A	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548072	0.86022	.	.	ENSG00000165029	ENST00000374736	T	0.80824	-1.42	5.52	5.52	0.82312	.	0.147850	0.64402	D	0.000014	D	0.86965	0.6060	L	0.55990	1.75	0.80722	D	1	D	0.57899	0.981	P	0.60949	0.881	D	0.87625	0.2512	10	0.72032	D	0.01	.	19.4921	0.95054	0.0:1.0:0.0:0.0	.	1224	O95477	ABCA1_HUMAN	K	1224	ENSP00000363868:E1224K	ENSP00000363868:E1224K	E	-	1	0	ABCA1	106618313	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.612000	0.88384	0.555000	0.69702	GAG		0.493	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		100	252	0	0	0	0	100	252				
ZNF462	58499	broad.mit.edu	37	9	109691062	109691062	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:109691062G>A	ENST00000277225.5	+	3	5158	c.4869G>A	c.(4867-4869)atG>atA	p.M1623I	ZNF462_ENST00000457913.1_Missense_Mutation_p.M1623I|ZNF462_ENST00000441147.2_Missense_Mutation_p.M468I			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1623					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGCCCGAGATGACCACTGAAG	0.547																																						uc004bcz.2		NA																	0				ovary(5)	5						c.(4867-4869)ATG>ATA		zinc finger protein 462							89.0	91.0	91.0					9																	109691062		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109691062G>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.4869G>A	9.37:g.109691062G>A	ENSP00000277225:p.Met1623Ile					ZNF462_uc010mto.2_Missense_Mutation_p.M1471I|ZNF462_uc004bda.2_Missense_Mutation_p.M1471I	p.M1623I	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			3	5158	+			1623					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.4869G>A	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	0.046	-1.264985	0.01433	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.04551	3.6;4.04;4.16;4.17	5.92	-4.55	0.03441	.	0.512736	0.21880	N	0.067747	T	0.01523	0.0049	N	0.08118	0	0.49582	D	0.999809	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.49072	-0.8977	10	0.02654	T	1	-0.2806	5.9724	0.19359	0.2843:0.1066:0.5044:0.1047	.	1623;1623	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	I	1623;1623;506;468	ENSP00000277225:M1623I;ENSP00000414570:M1623I;ENSP00000363818:M506I;ENSP00000397306:M468I	ENSP00000277225:M1623I	M	+	3	0	ZNF462	108730883	0.008000	0.16893	0.965000	0.40720	0.985000	0.73830	-0.264000	0.08658	-0.349000	0.08274	0.655000	0.94253	ATG		0.547	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		34	131	0	0	0	0	34	131				
SVEP1	79987	broad.mit.edu	37	9	113168843	113168843	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:113168843C>G	ENST00000401783.2	-	38	9373	c.9037G>C	c.(9037-9039)Gaa>Caa	p.E3013Q	SVEP1_ENST00000297826.5_Missense_Mutation_p.E939Q|SVEP1_ENST00000374469.1_Missense_Mutation_p.E2990Q	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3013	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GTTCCATATTCAATTACTGGT	0.488																																						uc010mtz.2		NA																	0				ovary(7)	7						c.(9037-9039)GAA>CAA		polydom							31.0	33.0	32.0					9																	113168843		1925	4124	6049	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113168843C>G	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9037G>C	9.37:g.113168843C>G	ENSP00000384917:p.Glu3013Gln					SVEP1_uc010mty.2_Missense_Mutation_p.E939Q	p.E3013Q	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			38	9374	-			3013			Sushi 27.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.9037G>C	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	2.412	-0.335198	0.05278	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.63913	-0.07;-0.07;-0.07	5.76	4.87	0.63330	Complement control module (2);Sushi/SCR/CCP (3);	0.213656	0.49305	N	0.000158	T	0.37999	0.1024	N	0.03238	-0.38	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28396	-1.0045	10	0.09338	T	0.73	.	16.9069	0.86131	0.0:0.1301:0.8699:0.0	.	3013	Q4LDE5	SVEP1_HUMAN	Q	3013;2990;939	ENSP00000384917:E3013Q;ENSP00000363593:E2990Q;ENSP00000297826:E939Q	ENSP00000297826:E939Q	E	-	1	0	SVEP1	112208664	1.000000	0.71417	0.949000	0.38748	0.840000	0.47671	3.781000	0.55394	1.445000	0.47624	-0.226000	0.12346	GAA		0.488	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				11	40	0	0	0	0	11	40				
ZNF483	158399	broad.mit.edu	37	9	114304423	114304423	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:114304423C>G	ENST00000309235.5	+	6	1366	c.1208C>G	c.(1207-1209)tCa>tGa	p.S403*	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	403					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						ATTAGAAGATCAACTCTTTCT	0.393																																						uc004bff.2		NA																	0				skin(1)	1						c.(1207-1209)TCA>TGA		zinc finger protein 483 isoform a							83.0	94.0	90.0					9																	114304423		2203	4300	6503	SO:0001587	stop_gained	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114304423C>G	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1208C>G	9.37:g.114304423C>G	ENSP00000311679:p.Ser403*					ZNF483_uc004bfg.2_Intron	p.S403*	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN			6	1432	+			403					Q5VZN2|Q8NAE1	Nonsense_Mutation	SNP	ENST00000309235.5	37	c.1208C>G	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710832	0.68730	.	.	ENSG00000173258	ENST00000309235	.	.	.	4.55	-1.16	0.09678	.	1.998440	0.02673	N	0.108844	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	1.3464	9.2202	0.37373	0.0:0.5329:0.0:0.4671	.	.	.	.	X	403	.	ENSP00000311679:S403X	S	+	2	0	ZNF483	113344244	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.322000	0.02695	-0.205000	0.10219	0.655000	0.94253	TCA		0.393	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		71	156	0	0	0	0	71	156				
SUSD1	64420	broad.mit.edu	37	9	114886646	114886646	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:114886646G>A	ENST00000374270.3	-	6	949	c.777C>T	c.(775-777)ggC>ggT	p.G259G	SUSD1_ENST00000374263.3_Silent_p.G259G|SUSD1_ENST00000374264.2_Silent_p.G259G|SUSD1_ENST00000482851.1_5'UTR	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	259	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GAGCCACACCGCCCAGCCTGG	0.517																																						uc004bfu.2		NA																	0					0						c.(775-777)GGC>GGT		sushi domain containing 1 precursor							101.0	97.0	98.0					9																	114886646		2203	4300	6503	SO:0001819	synonymous_variant	64420					integral to membrane	calcium ion binding	g.chr9:114886646G>A	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.777C>T	9.37:g.114886646G>A						SUSD1_uc010mui.2_Silent_p.G259G|SUSD1_uc010muj.2_Silent_p.G259G	p.G259G	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN			6	818	-			259			Sushi 2.|Extracellular (Potential).		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Silent	SNP	ENST00000374270.3	37	c.777C>T	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.867|8.867	0.948302|0.948302	0.18356|0.18356	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000415074|ENST00000355396	.|.	.|.	.|.	5.96|5.96	-1.0|-1.0	0.10196|0.10196	.|.	.|.	.|.	.|.	.|.	T|T	0.39253|0.39253	0.1071|0.1071	.|.	.|.	.|.	0.53005|0.53005	D|D	0.999969|0.999969	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.26258|0.26258	-1.0108|-1.0108	4|4	.|.	.|.	.|.	-23.3057|-23.3057	0.9049|0.9049	0.01282|0.01282	0.3444:0.1307:0.3502:0.1746|0.3444:0.1307:0.3502:0.1746	.|.	.|.	.|.	.|.	V|W	73|243	.|.	.|.	A|R	-|-	2|1	0|2	SUSD1|SUSD1	113926467|113926467	0.000000|0.000000	0.05858|0.05858	0.063000|0.063000	0.19743|0.19743	0.962000|0.962000	0.63368|0.63368	-0.667000|-0.667000	0.05274|0.05274	-0.080000|-0.080000	0.12685|0.12685	-0.137000|-0.137000	0.14449|0.14449	GCG|CGG		0.517	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		19	69	0	0	0	0	19	69				
SNX30	401548	broad.mit.edu	37	9	115567235	115567235	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:115567235G>A	ENST00000374232.3	+	2	500	c.336G>A	c.(334-336)agG>agA	p.R112R		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	112	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TCACCTATAGGATCACCACCA	0.453																																						uc004bgj.3		NA																	0					0						c.(334-336)AGG>AGA		sorting nexin family member 30							175.0	156.0	162.0					9																	115567235		1937	4152	6089	SO:0001819	synonymous_variant	401548				cell communication|protein transport	cytoplasm	phosphatidylinositol binding	g.chr9:115567235G>A	AK126644	CCDS43865.1	9q33.1	2014-02-12			ENSG00000148158	ENSG00000148158		"""Sorting nexins"""	23685	protein-coding gene	gene with protein product							Standard	NM_001012994		Approved	ATG24A	uc004bgj.4	Q5VWJ9	OTTHUMG00000020512	ENST00000374232.3:c.336G>A	9.37:g.115567235G>A							p.R112R	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN			2	484	+			112			PX.			Silent	SNP	ENST00000374232.3	37	c.336G>A	CCDS43865.1																																																																																				0.453	SNX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053700.1			4	234	0	0	0	0	4	234				
CDK5RAP2	55755	broad.mit.edu	37	9	123173693	123173693	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:123173693G>C	ENST00000349780.4	-	29	4536	c.4357C>G	c.(4357-4359)Cat>Gat	p.H1453D	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.H1453D|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.H1421D|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.H1412D	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1453					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.H1453Y(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTCAAGAAATGAATTTCTGAT	0.398																																						uc004bkf.2		NA																	1	Substitution - Missense(1)		skin(1)	ovary(2)|lung(1)|skin(1)	4						c.(4357-4359)CAT>GAT		CDK5 regulatory subunit associated protein 2							117.0	113.0	114.0					9																	123173693		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123173693G>C	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.4357C>G	9.37:g.123173693G>C	ENSP00000343818:p.His1453Asp					CDK5RAP2_uc010mvi.2_Missense_Mutation_p.H462D|CDK5RAP2_uc004bke.2_Missense_Mutation_p.H738D|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.H1453D|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.H718D|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.H718D|CDK5RAP2_uc011lya.1_Missense_Mutation_p.H718D|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.H1223D|CDK5RAP2_uc004bki.2_Missense_Mutation_p.H1220D	p.H1453D	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN			29	4538	-			1453					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.4357C>G	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579360	0.46006	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53	5.68	3.77	0.43336	.	0.760060	0.12276	N	0.483330	T	0.22360	0.0539	L	0.29908	0.895	0.21473	N	0.999671	B;B;B;B;B;B	0.30973	0.302;0.161;0.05;0.116;0.03;0.145	B;B;B;B;B;B	0.27380	0.079;0.049;0.049;0.068;0.022;0.049	T	0.17258	-1.0375	10	0.72032	D	0.01	.	8.5642	0.33530	0.0795:0.0:0.7706:0.1498	.	463;1222;1421;1453;1453;847	Q5JTU8;Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;.;CK5P2_HUMAN;.	D	1421;1412;1453;1453;847;463;1225	ENSP00000354065:H1421D;ENSP00000352258:H1412D;ENSP00000343818:H1453D;ENSP00000353317:H1453D;ENSP00000400395:H847D;ENSP00000409941:H463D	ENSP00000341695:H1225D	H	-	1	0	CDK5RAP2	122213514	1.000000	0.71417	0.946000	0.38457	0.960000	0.62799	2.562000	0.45914	0.688000	0.31529	0.561000	0.74099	CAT		0.398	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		6	206	0	0	0	0	6	206				
RC3H2	54542	broad.mit.edu	37	9	125642045	125642045	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:125642045C>G	ENST00000373670.1	-	7	1801	c.1201G>C	c.(1201-1203)Gag>Cag	p.E401Q	RC3H2_ENST00000373665.2_Missense_Mutation_p.E401Q|RC3H2_ENST00000335387.5_Missense_Mutation_p.E401Q|RC3H2_ENST00000357244.2_Missense_Mutation_p.E401Q|SNORD90_ENST00000391145.1_RNA|RC3H2_ENST00000423239.2_Missense_Mutation_p.E401Q			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	401					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TGAGGGGTCTCATGGCCTTTT	0.393																																						uc010mwc.1		NA																	0				ovary(2)|lung(2)	4						c.(1201-1203)GAG>CAG		ring finger and CCCH-type zinc finger domains 2							70.0	69.0	69.0					9																	125642045		1866	4091	5957	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125642045C>G	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.1201G>C	9.37:g.125642045C>G	ENSP00000362774:p.Glu401Gln					RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.E401Q|RC3H2_uc004bne.3_Missense_Mutation_p.E401Q|RC3H2_uc011lzf.1_Missense_Mutation_p.E138Q|RC3H2_uc011lzg.1_Missense_Mutation_p.E401Q	p.E401Q	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN			8	1442	-			401					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.1201G>C	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.522786	0.44866	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000373665;ENST00000335387	T;T;T;T;T	0.46819	0.86;0.86;0.87;1.5;1.48	5.45	5.45	0.79879	.	0.103651	0.64402	D	0.000003	T	0.36082	0.0954	L	0.31926	0.97	0.45867	D	0.998724	B;B;B;B	0.10296	0.001;0.003;0.001;0.002	B;B;B;B	0.12156	0.004;0.002;0.002;0.007	T	0.12889	-1.0530	10	0.13853	T	0.58	-28.1707	14.2713	0.66154	0.0:0.8513:0.1487:0.0	.	401;272;401;401	A6NHN2;Q4VXB0;Q9HBD1;Q9HBD1-4	.;.;RC3H2_HUMAN;.	Q	401;401;272;401;401;401	ENSP00000362774:E401Q;ENSP00000349783:E401Q;ENSP00000411767:E401Q;ENSP00000362769:E401Q;ENSP00000335150:E401Q	ENSP00000335150:E401Q	E	-	1	0	RC3H2	124681866	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.710000	0.92621	0.563000	0.77884	GAG		0.393	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		20	62	0	0	0	0	20	62				
MAPKAP1	79109	broad.mit.edu	37	9	128268677	128268677	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:128268677C>T	ENST00000373498.1	-	7	1046	c.978G>A	c.(976-978)gaG>gaA	p.E326E	MAPKAP1_ENST00000265960.3_Silent_p.E326E|MAPKAP1_ENST00000373503.3_Silent_p.E134E|MAPKAP1_ENST00000373511.2_Silent_p.E326E|MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000350766.3_Intron|MAPKAP1_ENST00000394063.1_Silent_p.E134E			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	326					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						CGCTCTGCTTCTCCAGGCGGT	0.552																																						uc004bpv.2		NA																	0				ovary(2)|lung(2)	4						c.(976-978)GAG>GAA		mitogen-activated protein kinase associated							79.0	71.0	74.0					9																	128268677		2203	4300	6503	SO:0001819	synonymous_variant	79109				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding	g.chr9:128268677C>T	M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.978G>A	9.37:g.128268677C>T						MAPKAP1_uc011lzt.1_Silent_p.E129E|MAPKAP1_uc010mwz.2_Intron|MAPKAP1_uc011lzu.1_Silent_p.E129E|MAPKAP1_uc011lzv.1_Intron|MAPKAP1_uc004bpw.2_Silent_p.E134E|MAPKAP1_uc004bpx.2_Silent_p.E134E|MAPKAP1_uc004bpy.2_Intron|MAPKAP1_uc004bpz.2_Silent_p.E326E|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc010mxb.1_Silent_p.E129E	p.E326E	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN			8	1311	-			326					A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Silent	SNP	ENST00000373498.1	37	c.978G>A	CCDS35140.1																																																																																				0.552	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			35	107	0	0	0	0	35	107				
ODF2	4957	broad.mit.edu	37	9	131231605	131231605	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:131231605G>A	ENST00000434106.3	+	5	756	c.393G>A	c.(391-393)atG>atA	p.M131I	ODF2_ENST00000448249.3_Intron|ODF2_ENST00000444119.2_Missense_Mutation_p.M107I|ODF2_ENST00000351030.3_Missense_Mutation_p.M126I|ODF2_ENST00000372791.3_Missense_Mutation_p.M112I|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000393527.3_Missense_Mutation_p.M107I|ODF2_ENST00000546203.1_Missense_Mutation_p.M112I|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000372807.5_Missense_Mutation_p.M126I|ODF2_ENST00000372814.3_Missense_Mutation_p.M175I|ODF2_ENST00000393533.2_Missense_Mutation_p.M131I|ODF2_ENST00000604420.1_Missense_Mutation_p.M131I	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	131					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						ATAGTCTAATGAATGCGGTTG	0.488																																						uc011mbd.1		NA																	0				ovary(1)	1						c.(391-393)ATG>ATA		outer dense fiber of sperm tails 2 isoform 1							174.0	159.0	164.0					9																	131231605		2203	4300	6503	SO:0001583	missense	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131231605G>A	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.393G>A	9.37:g.131231605G>A	ENSP00000403453:p.Met131Ile					ODF2_uc011maz.1_Missense_Mutation_p.M131I|ODF2_uc011mba.1_Intron|ODF2_uc010myb.2_Missense_Mutation_p.M107I|ODF2_uc011mbb.1_Missense_Mutation_p.M65I|ODF2_uc011mbc.1_Intron|ODF2_uc004bva.2_Missense_Mutation_p.M84I|ODF2_uc004bvb.2_Missense_Mutation_p.M107I|ODF2_uc011mbe.1_Missense_Mutation_p.M126I|ODF2_uc004bvc.2_Missense_Mutation_p.M107I|ODF2_uc010myc.2_Intron|ODF2_uc011mbf.1_Missense_Mutation_p.M112I|ODF2_uc004bvd.3_Missense_Mutation_p.M131I|ODF2_uc004bve.2_Missense_Mutation_p.M112I	p.M131I	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN			5	704	+			131					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	c.393G>A	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779113	0.70107	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000444119;ENST00000434106;ENST00000546203;ENST00000446274;ENST00000372791	T;T;T;T;T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12	5.97	5.97	0.96955	.	0.158856	0.64402	D	0.000002	T	0.53867	0.1823	L	0.50333	1.59	0.80722	D	1	B;P;B;P;P;B;P;B	0.41232	0.29;0.532;0.221;0.743;0.532;0.29;0.532;0.29	B;B;B;B;B;B;B;B	0.36464	0.119;0.225;0.12;0.188;0.188;0.097;0.188;0.097	T	0.53781	-0.8390	10	0.38643	T	0.18	-22.9263	18.9809	0.92755	0.0:0.0:1.0:0.0	.	112;126;65;131;126;112;131;107	Q5BJF6-8;Q5BJF6-4;Q5BJF6-2;B4DX73;B1AND4;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;ODFP2_HUMAN;.	I	131;175;126;131;107;107;131;112;112;112	ENSP00000377166:M131I;ENSP00000361901:M175I;ENSP00000342581:M126I;ENSP00000361882:M131I;ENSP00000307781:M107I;ENSP00000394506:M107I;ENSP00000403453:M131I;ENSP00000437579:M112I;ENSP00000415290:M112I;ENSP00000361877:M112I	ENSP00000307781:M107I	M	+	3	0	ODF2	130271426	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.314000	0.65804	2.832000	0.97577	0.585000	0.79938	ATG		0.488	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			51	205	0	0	0	0	51	205				
MED27	9442	broad.mit.edu	37	9	134952852	134952852	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:134952852G>C	ENST00000292035.5	-	2	388	c.325C>G	c.(325-327)Caa>Gaa	p.Q109E	RP11-32B11.2_ENST00000444872.2_RNA|MED27_ENST00000357028.2_Missense_Mutation_p.Q109E|MED27_ENST00000474263.1_Missense_Mutation_p.Q109E	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	109					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		TTATATGCTTGAAGGAGTTGA	0.413																																					Colon(41;784 923 6932 42329 52483)	uc004cbe.1		NA																	0				skin(1)	1						c.(325-327)CAA>GAA		mediator complex subunit 27							182.0	179.0	180.0					9																	134952852		2203	4300	6503	SO:0001583	missense	9442				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity	g.chr9:134952852G>C	AF104252	CCDS6945.1, CCDS59153.1, CCDS69689.1	9q34.13	2008-02-05	2007-07-30	2007-07-30	ENSG00000160563	ENSG00000160563			2377	protein-coding gene	gene with protein product		605044	"""cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa"""	CRSP8		9989412	Standard	NM_004269		Approved	TRAP37, CRSP34	uc004cbe.2	Q6P2C8	OTTHUMG00000020833	ENST00000292035.5:c.325C>G	9.37:g.134952852G>C	ENSP00000292035:p.Gln109Glu					MED27_uc004cbf.1_Missense_Mutation_p.Q109E|MED27_uc011mco.1_Missense_Mutation_p.Q109E|MED27_uc004cbg.3_Missense_Mutation_p.Q109E	p.Q109E	NM_004269	NP_004260	Q6P2C8	MED27_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)	2	347	-		Myeloproliferative disorder(178;0.206)	109					O95401|Q4F964|Q5VTA4|Q5VTA5|Q9BU57|Q9NYR4|V9GYV9	Missense_Mutation	SNP	ENST00000292035.5	37	c.325C>G	CCDS6945.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342959	0.61073	.	.	ENSG00000160563	ENST00000292035;ENST00000357028;ENST00000372184	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.72350	0.3449	L	0.59436	1.845	0.80722	D	1	B;P;B	0.43578	0.05;0.811;0.03	B;P;B	0.54924	0.069;0.764;0.012	T	0.70288	-0.4913	8	.	.	.	-5.0201	17.8167	0.88637	0.0:0.0:1.0:0.0	.	109;109;109	B4DPP5;Q6P2C8-2;Q6P2C8	.;.;MED27_HUMAN	E	109;71;109	.	.	Q	-	1	0	MED27	133942673	1.000000	0.71417	0.981000	0.43875	0.997000	0.91878	9.789000	0.99068	2.512000	0.84698	0.591000	0.81541	CAA		0.413	MED27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054770.2	NM_004269		10	286	0	0	0	0	10	286				
TTF1	7270	broad.mit.edu	37	9	135277284	135277284	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:135277284C>G	ENST00000334270.2	-	2	964	c.925G>C	c.(925-927)Gaa>Caa	p.E309Q		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	309					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GGCCGGGATTCCTGCATATCA	0.448																																						uc004cbl.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(925-927)GAA>CAA		transcription termination factor, RNA polymerase							138.0	133.0	135.0					9																	135277284		2203	4300	6503	SO:0001583	missense	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135277284C>G	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.925G>C	9.37:g.135277284C>G	ENSP00000333920:p.Glu309Gln					TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron	p.E309Q	NM_007344	NP_031370	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	977	-		Myeloproliferative disorder(178;0.204)	309					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	c.925G>C	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	C	8.582	0.882640	0.17467	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.11169	2.8	2.41	-0.404	0.12396	.	.	.	.	.	T	0.06416	0.0165	L	0.36672	1.1	0.09310	N	1	B	0.33494	0.414	B	0.20577	0.03	T	0.32052	-0.9921	9	0.45353	T	0.12	.	4.0936	0.09980	0.0:0.4447:0.0:0.5553	.	309	Q15361	TTF1_HUMAN	Q	309	ENSP00000333920:E309Q	ENSP00000245588:E309Q	E	-	1	0	TTF1	134267105	0.001000	0.12720	0.029000	0.17559	0.009000	0.06853	-0.048000	0.11944	0.116000	0.18110	-0.373000	0.07131	GAA		0.448	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		5	319	0	0	0	0	5	319				
CAMSAP1	157922	broad.mit.edu	37	9	138719360	138719360	+	Silent	SNP	G	G	A	rs546949363		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:138719360G>A	ENST00000389532.4	-	8	1180	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	CAMSAP1_ENST00000409386.3_Silent_p.F383F|CAMSAP1_ENST00000312405.6_Silent_p.F94F|CAMSAP1_ENST00000483991.1_5'Flank	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	372					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGCTGCCTAGGAAACTGCGTT	0.597													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16416	0.0		0.0	False		,,,				2504	0.0					uc004cgr.3		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1114-1116)TTC>TTT		calmodulin regulated spectrin-associated protein							88.0	69.0	75.0					9																	138719360		2203	4300	6503	SO:0001819	synonymous_variant	157922					cytoplasm|microtubule		g.chr9:138719360G>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1116C>T	9.37:g.138719360G>A						CAMSAP1_uc004cgq.3_Silent_p.F262F|CAMSAP1_uc010nbg.2_Silent_p.F94F	p.F372F	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	8	1116	-			372					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	ENST00000389532.4	37	c.1116C>T	CCDS35176.2																																																																																				0.597	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		11	37	0	0	0	0	11	37				
NOTCH1	4851	broad.mit.edu	37	9	139417620	139417620	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:139417620C>G	ENST00000277541.6	-	4	499	c.424G>C	c.(424-426)Gac>Cac	p.D142H	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	142	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCGCACGGGTCAGCCTGCTGG	0.682			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(424-426)GAC>CAC		notch1 preproprotein							16.0	21.0	19.0					9																	139417620		2091	4198	6289	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139417620C>G	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.424G>C	9.37:g.139417620C>G	ENSP00000277541:p.Asp142His	HNSCC(8;0.001)					p.D142H	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	4	424	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	142			Extracellular (Potential).|EGF-like 4.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.424G>C	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614301	0.87359	.	.	ENSG00000148400	ENST00000277541	D	0.94828	-3.53	5.02	5.02	0.67125	Epidermal growth factor-like, type 3 (1);	0.049302	0.85682	D	0.000000	D	0.96546	0.8873	M	0.69185	2.1	0.80722	D	1	D	0.71674	0.998	D	0.65987	0.94	D	0.97160	0.9837	10	0.87932	D	0	.	17.3082	0.87201	0.0:1.0:0.0:0.0	.	142	P46531	NOTC1_HUMAN	H	142	ENSP00000277541:D142H	ENSP00000277541:D142H	D	-	1	0	NOTCH1	138537441	1.000000	0.71417	0.873000	0.34254	0.837000	0.47467	4.746000	0.62133	2.317000	0.78254	0.561000	0.74099	GAC		0.682	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		6	12	0	0	0	0	6	12				
RABL6	55684	broad.mit.edu	37	9	139720263	139720263	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:139720263G>A	ENST00000311502.7	+	3	534	c.298G>A	c.(298-300)Gat>Aat	p.D100N	RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000371671.4_Missense_Mutation_p.D100N|RABL6_ENST00000432842.2_Missense_Mutation_p.D62N|RABL6_ENST00000371663.4_Missense_Mutation_p.D100N|RABL6_ENST00000371675.3_De_novo_Start_OutOfFrame|RABL6_ENST00000357466.2_Missense_Mutation_p.D100N			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	100	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										TGAAGTCTGGGATGTAGTAGA	0.532																																						uc004cji.1		NA																	0					0						c.(298-300)GAT>AAT		Rab-like GTP-binding protein 1 isoform 1							353.0	373.0	367.0					9																	139720263		2108	4243	6351	SO:0001583	missense	55684				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding	g.chr9:139720263G>A	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.298G>A	9.37:g.139720263G>A	ENSP00000311134:p.Asp100Asn					C9orf86_uc004cjm.2_Missense_Mutation_p.D100N|C9orf86_uc004cjh.2_Missense_Mutation_p.D100N|C9orf86_uc004cjj.1_Missense_Mutation_p.D100N|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Missense_Mutation_p.D100N|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_5'UTR	p.D100N	NM_024718	NP_078994	Q3YEC7	PARF_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)	3	566	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	100			Small GTPase-like.|GTP (Potential).		A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Missense_Mutation	SNP	ENST00000311502.7	37	c.298G>A	CCDS48058.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.312144|4.312144	0.81358|0.81358	.|.	.|.	ENSG00000196642|ENSG00000196642	ENST00000371673;ENST00000371663;ENST00000371671;ENST00000311502;ENST00000357466;ENST00000432842|ENST00000436380;ENST00000425121	T;T;T;T;T|.	0.73152|.	-0.72;-0.72;-0.72;-0.72;-0.72|.	4.77|4.77	4.77|4.77	0.60923|0.60923	Mitochondrial Rho-like (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.79161|0.79161	0.4399|0.4399	M|M	0.89478|0.89478	3.035|3.035	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;0.995;0.987;0.99;0.999|.	D;D;P;D;D|.	0.91635|.	0.999;0.992;0.889;0.932;0.987|.	T|T	0.82739|0.82739	-0.0308|-0.0308	10|5	0.87932|.	D|.	0|.	-21.2353|-21.2353	12.6563|12.6563	0.56790|0.56790	0.0:0.1663:0.8337:0.0|0.0:0.1663:0.8337:0.0	.|.	100;100;100;100;100|.	A8QVZ8;C6K8I5;Q3YEC7-2;Q3YEC7;C6K8I4|.	.;.;.;PARF_HUMAN;.|.	N|E	100;100;100;100;100;62|56;10	ENSP00000360727:D100N;ENSP00000360736:D100N;ENSP00000311134:D100N;ENSP00000350056:D100N;ENSP00000414081:D62N|.	ENSP00000311134:D100N|.	D|G	+|+	1|2	0|0	C9orf86|C9orf86	138840084|138840084	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.794000|0.794000	0.44872|0.44872	7.206000|7.206000	0.77891|0.77891	2.188000|2.188000	0.69820|0.69820	0.505000|0.505000	0.49811|0.49811	GAT|GGA		0.532	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		6	338	0	0	0	0	6	338				
ABCA2	20	broad.mit.edu	37	9	139909403	139909403	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr9:139909403C>T	ENST00000371605.3	-	24	3988	c.3841G>A	c.(3841-3843)Gag>Aag	p.E1281K	ABCA2_ENST00000341511.6_Missense_Mutation_p.E1282K|ABCA2_ENST00000265662.5_Missense_Mutation_p.E1282K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1281					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)		TTGGCGGCCTCGCTGGGCAGG	0.662																																						uc011mem.1		NA																	0					0						c.(3841-3843)GAG>AAG		ATP-binding cassette, sub-family A, member 2							26.0	34.0	32.0					9																	139909403		1999	4151	6150	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.chr9:139909403C>T	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.3841G>A	9.37:g.139909403C>T	ENSP00000360666:p.Glu1281Lys					ABCA2_uc011mel.1_Missense_Mutation_p.E1282K|ABCA2_uc004ckl.1_Missense_Mutation_p.E1212K|ABCA2_uc004ckm.1_Missense_Mutation_p.E1312K|ABCA2_uc004ckn.1_RNA	p.E1281K	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)	24	3989	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1281					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.3841G>A		.	.	.	.	.	.	.	.	.	.	c	12.82	2.053978	0.36277	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.84944	-1.92;-1.92;-1.92	4.59	4.59	0.56863	.	0.368479	0.23485	U	0.047676	T	0.74619	0.3740	L	0.45285	1.41	0.52501	D	0.99995	B;P	0.48834	0.188;0.916	B;B	0.32677	0.023;0.15	T	0.76154	-0.3063	10	0.07175	T	0.84	.	17.0018	0.86383	0.0:1.0:0.0:0.0	.	1281;1312	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	K	1282;1281;1312;1282	ENSP00000265662:E1282K;ENSP00000360666:E1281K;ENSP00000344155:E1282K	ENSP00000265662:E1282K	E	-	1	0	ABCA2	139029224	1.000000	0.71417	0.973000	0.42090	0.640000	0.38277	4.472000	0.60189	2.119000	0.64992	0.306000	0.20318	GAG		0.662	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		11	23	0	0	0	0	11	23				
SLC25A6	293	broad.mit.edu	37	X	1508132	1508132	+	Splice_Site	SNP	A	A	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:1508132A>G	ENST00000381401.5	-	2	1313		c.e2+1		SLC25A6_ENST00000475167.1_Splice_Site	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6						active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	agccACACGTACCCTTGGCCG	0.632																																						uc004cpt.2		NA																	0					0						c.e2+1		adenine nucleotide translocator 3	Clodronate(DB00720)						71.0	66.0	68.0					X																	1508132		2203	4296	6499	SO:0001630	splice_region_variant	293				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1508132A>G	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.598+1T>C	X.37:g.1508132A>G						SLC25A6_uc004cpu.2_Splice_Site	p.G200_splice	NM_001636	NP_001627	P12236	ADT3_HUMAN			2	694	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)						Q96C49	Splice_Site	SNP	ENST00000381401.5	37	c.598_splice	CCDS14114.1	.	.	.	.	.	.	.	.	.	.	.	5.297	0.240216	0.10023	.	.	ENSG00000169100	ENST00000381401	.	.	.	1.52	1.52	0.23074	.	.	.	.	.	.	.	.	.	.	.	0.20403	N	0.999903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9591	0.35836	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC25A6	1468132	1.000000	0.71417	0.045000	0.18777	0.078000	0.17371	5.297000	0.65704	0.651000	0.30788	0.327000	0.21459	.		0.632	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636	Intron	9	108	0	0	0	0	9	108				
NLGN4X	57502	broad.mit.edu	37	X	6069472	6069472	+	Silent	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:6069472C>T	ENST00000381095.3	-	2	663	c.36G>A	c.(34-36)ttG>ttA	p.L12L	NLGN4X_ENST00000538097.1_Silent_p.L12L|NLGN4X_ENST00000381092.1_Silent_p.L12L|NLGN4X_ENST00000275857.6_Silent_p.L12L|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381093.2_Silent_p.L12L	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	12					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGGTGAACAACAAAGGAAGCC	0.522																																						uc010ndh.2		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(34-36)TTG>TTA		X-linked neuroligin 4 precursor							91.0	67.0	75.0					X																	6069472		2203	4300	6503	SO:0001819	synonymous_variant	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:6069472C>T	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.36G>A	X.37:g.6069472C>T						NLGN4X_uc004crp.2_Silent_p.L12L|NLGN4X_uc004crq.2_Silent_p.L12L|NLGN4X_uc010ndi.2_Silent_p.L12L|NLGN4X_uc004crr.2_Silent_p.L12L|NLGN4X_uc010ndj.2_Silent_p.L12L	p.L12L	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			2	537	-			12					Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	c.36G>A	CCDS14126.1																																																																																				0.522	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		19	26	0	0	0	0	19	26				
SHROOM2	357	broad.mit.edu	37	X	9900879	9900879	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:9900879C>G	ENST00000380913.3	+	6	3646	c.3556C>G	c.(3556-3558)Ccc>Gcc	p.P1186A	SHROOM2_ENST00000418909.2_Missense_Mutation_p.P21A|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1186					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGACAAACCTCCCCTGCTCAT	0.637																																						uc004csu.1		NA																	0				ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(3556-3558)CCC>GCC		apical protein of Xenopus-like							37.0	35.0	36.0					X																	9900879		2202	4299	6501	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9900879C>G	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3556C>G	X.37:g.9900879C>G	ENSP00000370299:p.Pro1186Ala					SHROOM2_uc004csv.2_Missense_Mutation_p.P21A|SHROOM2_uc011mic.1_Missense_Mutation_p.P21A|SHROOM2_uc004csw.1_Missense_Mutation_p.P21A	p.P1186A	NM_001649	NP_001640	Q13796	SHRM2_HUMAN			6	3646	+		Hepatocellular(5;0.000888)	1186					B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.3556C>G	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340545	0.60963	.	.	ENSG00000146950	ENST00000380913;ENST00000418909;ENST00000452575;ENST00000540923	T;T;T	0.69175	1.79;0.38;-0.38	4.66	4.66	0.58398	.	0.127845	0.53938	D	0.000054	T	0.78868	0.4351	L	0.54323	1.7	0.52501	D	0.999958	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	T	0.81600	-0.0859	10	0.72032	D	0.01	-30.8603	16.9974	0.86371	0.0:1.0:0.0:0.0	.	21;1186	Q68DU3;Q13796	.;SHRM2_HUMAN	A	1186;21;21;21	ENSP00000370299:P1186A;ENSP00000415229:P21A;ENSP00000406724:P21A	ENSP00000370299:P1186A	P	+	1	0	SHROOM2	9860879	1.000000	0.71417	0.254000	0.24359	0.277000	0.26821	6.682000	0.74528	1.931000	0.55961	0.523000	0.50628	CCC		0.637	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		18	15	0	0	0	0	18	15				
DCAF8L1	139425	broad.mit.edu	37	X	27999220	27999220	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:27999220C>G	ENST00000441525.1	-	1	346	c.232G>C	c.(232-234)Gac>Cac	p.D78H		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	78	Glu-rich.									NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AGTTCGACGTCTTCACTTGAA	0.488																																						uc004dbx.1		NA																	0				ovary(3)|skin(1)	4						c.(232-234)GAC>CAC		DDB1 and CUL4 associated factor 8-like 1							191.0	141.0	158.0					X																	27999220		2202	4300	6502	SO:0001583	missense	139425							g.chrX:27999220C>G		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.232G>C	X.37:g.27999220C>G	ENSP00000405222:p.Asp78His						p.D78H	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			1	347	-			78			Glu-rich.		B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.232G>C	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.284633	0.23392	.	.	ENSG00000226372	ENST00000441525	T	0.67865	-0.29	0.842	-0.902	0.10537	.	0.687690	0.13454	N	0.386677	T	0.58977	0.2160	M	0.61703	1.905	0.21762	N	0.999554	P	0.47962	0.903	B	0.43052	0.406	T	0.53872	-0.8377	10	0.87932	D	0	-6.0559	4.6587	0.12632	0.0:0.5803:0.0:0.4197	.	78	A6NGE4	DC8L1_HUMAN	H	78	ENSP00000405222:D78H	ENSP00000405222:D78H	D	-	1	0	DCAF8L1	27909141	0.135000	0.22499	0.001000	0.08648	0.034000	0.12701	1.020000	0.30027	-0.382000	0.07870	0.284000	0.19432	GAC		0.488	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		46	62	0	0	0	0	46	62				
CXorf21	80231	broad.mit.edu	37	X	30578276	30578276	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:30578276G>C	ENST00000378962.3	-	3	519	c.197C>G	c.(196-198)tCt>tGt	p.S66C		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	66										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						ATGCACTGAAGAGATAAACTT	0.458																																						uc004dcg.1		NA																	0				ovary(1)	1						c.(196-198)TCT>TGT		hypothetical protein LOC80231							176.0	162.0	167.0					X																	30578276		2202	4300	6502	SO:0001583	missense	80231							g.chrX:30578276G>C	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.197C>G	X.37:g.30578276G>C	ENSP00000368245:p.Ser66Cys						p.S66C	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN			3	473	-			66						Missense_Mutation	SNP	ENST00000378962.3	37	c.197C>G	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595185	0.46318	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.25	5.25	0.73442	.	0.185804	0.37955	N	0.001862	T	0.61986	0.2391	L	0.60455	1.87	0.34779	D	0.734492	D	0.64830	0.994	P	0.56865	0.808	T	0.69614	-0.5098	9	0.33141	T	0.24	-3.0011	13.6438	0.62267	0.0:0.0:0.8451:0.1549	.	66	Q9HAI6	CX021_HUMAN	C	66	.	ENSP00000368245:S66C	S	-	2	0	CXorf21	30488197	1.000000	0.71417	0.993000	0.49108	0.928000	0.56348	5.478000	0.66806	2.426000	0.82243	0.544000	0.68410	TCT		0.458	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		110	98	0	0	0	0	110	98				
CXorf22	170063	broad.mit.edu	37	X	35974208	35974208	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:35974208C>G	ENST00000297866.5	+	8	1371	c.1305C>G	c.(1303-1305)atC>atG	p.I435M		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	435										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTCAGTGCATCATAAAAAATC	0.378																																						uc004ddj.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(1303-1305)ATC>ATG		hypothetical protein LOC170063							75.0	69.0	71.0					X																	35974208		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35974208C>G	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1305C>G	X.37:g.35974208C>G	ENSP00000297866:p.Ile435Met					CXorf22_uc010ngv.2_RNA	p.I435M	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			8	1364	+			435					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.1305C>G	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	1.163	-0.643290	0.03531	.	.	ENSG00000165164	ENST00000297866	T	0.56275	0.47	5.14	-2.58	0.06228	.	0.866665	0.10589	N	0.657012	T	0.38825	0.1055	L	0.57536	1.79	0.09310	N	1	B	0.26081	0.141	B	0.20767	0.031	T	0.34477	-0.9827	10	0.44086	T	0.13	-14.7841	1.5775	0.02627	0.2212:0.3853:0.1673:0.2262	.	435	Q6ZTR5	CX022_HUMAN	M	435	ENSP00000297866:I435M	ENSP00000297866:I435M	I	+	3	3	CXorf22	35884129	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.347000	0.07750	-0.291000	0.09012	-0.912000	0.02778	ATC		0.378	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		44	34	0	0	0	0	44	34				
DGKK	139189	broad.mit.edu	37	X	50167295	50167295	+	RNA	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:50167295C>G	ENST00000376025.2	-	0	766							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CAGAAAATATCTAAGCTTCCA	0.403																																						uc010njr.1		NA																	0				ovary(1)|kidney(1)	2						c.(706-708)AGA>ACA		diacylglycerol kinase kappa							167.0	146.0	153.0					X																	50167295		1880	4088	5968			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50167295C>G	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50167295C>G							p.R236T	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			2	767	-	Ovarian(276;0.236)		236			PH.		B2RP91	Missense_Mutation	SNP	ENST00000376025.2	37	c.707G>C																																																																																					0.403	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		12	26	0	0	0	0	12	26				
WNK3	65267	broad.mit.edu	37	X	54324818	54324818	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:54324818G>C	ENST00000375159.2	-	6	1187	c.1188C>G	c.(1186-1188)atC>atG	p.I396M	WNK3_ENST00000375169.3_Missense_Mutation_p.I396M|WNK3_ENST00000354646.2_Missense_Mutation_p.I396M			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	396	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ATAGGTCCCTGATAGACAACC	0.333																																						uc004dtd.1		NA																	0				lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(1186-1188)ATC>ATG		WNK lysine deficient protein kinase 3 isoform 2							70.0	64.0	66.0					X																	54324818		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54324818G>C	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1188C>G	X.37:g.54324818G>C	ENSP00000364301:p.Ile396Met					WNK3_uc004dtc.1_Missense_Mutation_p.I396M	p.I396M	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			7	1627	-			396			Protein kinase.		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.1188C>G	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529914	0.45073	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.67698	-0.28;-0.28;-0.28	4.93	4.05	0.47172	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.50627	D	0.000109	T	0.64416	0.2596	N	0.10972	0.075	0.32927	D	0.516597	D;D	0.60575	0.986;0.988	D;D	0.70935	0.951;0.971	T	0.73723	-0.3893	10	0.87932	D	0	-6.0263	10.8398	0.46708	0.0:0.0:0.6581:0.3419	.	396;396	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	M	396	ENSP00000364312:I396M;ENSP00000346667:I396M;ENSP00000364301:I396M	ENSP00000346667:I396M	I	-	3	3	WNK3	54341543	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.341000	0.33907	0.854000	0.35336	0.513000	0.50165	ATC		0.333	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		46	26	0	0	0	0	46	26				
ALAS2	212	broad.mit.edu	37	X	55039985	55039985	+	Missense_Mutation	SNP	C	C	G	rs200994350		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:55039985C>G	ENST00000330807.5	-	10	1671	c.1534G>C	c.(1534-1536)Ggt>Cgt	p.G512R	ALAS2_ENST00000498636.1_Intron|ALAS2_ENST00000335854.4_Missense_Mutation_p.G475R|ALAS2_ENST00000396198.3_Missense_Mutation_p.G499R	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	512					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	AGCTCTTCACCCCGGGGGACA	0.572																																						uc004dua.3		NA																	0				ovary(1)	1						c.(1534-1536)GGT>CGT		5-aminolevulinate synthase 2 isoform a	Glycine(DB00145)						78.0	62.0	67.0					X																	55039985		2203	4300	6503	SO:0001583	missense	212				cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chrX:55039985C>G		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1534G>C	X.37:g.55039985C>G	ENSP00000332369:p.Gly512Arg					ALAS2_uc004dub.3_Missense_Mutation_p.G499R|ALAS2_uc004dud.3_Missense_Mutation_p.G475R	p.G512R	NM_000032	NP_000023	P22557	HEM0_HUMAN			10	1672	-			512					A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	37	c.1534G>C	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.719756	0.89205	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.95885	-3.84;-3.84;-3.84	5.24	5.24	0.73138	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.98175	0.9397	M	0.91972	3.26	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99387	1.0924	10	0.87932	D	0	-19.0415	16.906	0.86128	0.0:1.0:0.0:0.0	.	475;499;512	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	R	512;499;475	ENSP00000332369:G512R;ENSP00000379501:G499R;ENSP00000337131:G475R	ENSP00000332369:G512R	G	-	1	0	ALAS2	55056710	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.818000	0.86416	2.341000	0.79615	0.538000	0.68166	GGT		0.572	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		17	44	0	0	0	0	17	44				
DGAT2L6	347516	broad.mit.edu	37	X	69420191	69420191	+	Silent	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:69420191C>A	ENST00000333026.3	+	4	454	c.354C>A	c.(352-354)atC>atA	p.I118I		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	118					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GTGTCTTCATCAACTTTGCCA	0.463																																						uc004dxx.1		NA																	0				ovary(1)	1						c.(352-354)ATC>ATA		diacylglycerol O-acyltransferase 2-like 6							191.0	140.0	157.0					X																	69420191		2203	4300	6503	SO:0001819	synonymous_variant	347516				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:69420191C>A	AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.354C>A	X.37:g.69420191C>A							p.I118I	NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN			4	451	+			118			Helical; (Potential).		Q6IEE2	Silent	SNP	ENST00000333026.3	37	c.354C>A	CCDS14397.1																																																																																				0.463	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512		37	39	1	0	3.66e-28	3.93e-28	37	39				
OGT	8473	broad.mit.edu	37	X	70776821	70776821	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:70776821G>A	ENST00000373719.3	+	10	1403	c.1186G>A	c.(1186-1188)Gat>Aat	p.D396N	OGT_ENST00000373701.3_Missense_Mutation_p.D386N	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	396					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TACCTTTGCTGATGCCTACTC	0.393																																						uc004eaa.1		NA																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(1186-1188)GAT>AAT		O-linked GlcNAc transferase isoform 1							84.0	71.0	75.0					X																	70776821		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70776821G>A	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.1186G>A	X.37:g.70776821G>A	ENSP00000362824:p.Asp396Asn					BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.D386N|OGT_uc004eac.2_Missense_Mutation_p.D257N|OGT_uc004ead.2_Missense_Mutation_p.D15N	p.D396N	NM_181672	NP_858058	O15294	OGT1_HUMAN			10	1403	+	Renal(35;0.156)		396			TPR 11.		Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.1186G>A	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.014191	0.93404	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.16597	2.33;2.33	5.3	5.3	0.74995	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.41190	0.1148	M	0.64676	1.99	0.80722	D	1	D;D;D	0.89917	0.995;0.998;1.0	D;D;D	0.91635	0.996;0.992;0.999	T	0.11372	-1.0590	10	0.48119	T	0.1	.	18.0148	0.89236	0.0:0.0:1.0:0.0	.	270;386;396	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	N	396;386	ENSP00000362824:D396N;ENSP00000362805:D386N	ENSP00000362805:D386N	D	+	1	0	OGT	70693546	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.582000	0.98214	2.445000	0.82738	0.594000	0.82650	GAT		0.393	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		35	24	0	0	0	0	35	24				
KIAA2022	340533	broad.mit.edu	37	X	73961334	73961334	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:73961334C>T	ENST00000055682.6	-	3	3669	c.3058G>A	c.(3058-3060)Gat>Aat	p.D1020N		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1020					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTGATATCATCATCGCCATCC	0.473																																						uc004eby.2		NA																	0				ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(3058-3060)GAT>AAT		hypothetical protein LOC340533							78.0	71.0	74.0					X																	73961334		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73961334C>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3058G>A	X.37:g.73961334C>T	ENSP00000055682:p.Asp1020Asn						p.D1020N	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	3675	-			1020					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.3058G>A	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479689	0.84747	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.36157	1.27;1.27	5.58	5.58	0.84498	.	0.264036	0.42548	D	0.000691	T	0.41949	0.1181	L	0.47716	1.5	0.58432	D	0.999998	P	0.41188	0.741	B	0.43658	0.426	T	0.36986	-0.9725	10	0.72032	D	0.01	-1.8784	18.6356	0.91378	0.0:1.0:0.0:0.0	.	1020	Q5QGS0	K2022_HUMAN	N	1020	ENSP00000362567:D1020N;ENSP00000055682:D1020N	ENSP00000055682:D1020N	D	-	1	0	KIAA2022	73878059	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.487000	0.81328	2.344000	0.79699	0.600000	0.82982	GAT		0.473	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		43	49	0	0	0	0	43	49				
ABCB7	22	broad.mit.edu	37	X	74288934	74288934	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:74288934C>T	ENST00000373394.3	-	12	1574	c.1567G>A	c.(1567-1569)Gag>Aag	p.E523K	ABCB7_ENST00000253577.3_Missense_Mutation_p.E524K|ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000339447.4_Missense_Mutation_p.E483K			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	523	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TTTTGAGGCTCATAGAAGCGA	0.403																																						uc004eca.2		NA																	0				ovary(1)	1						c.(1567-1569)GAG>AAG		ATP-binding cassette, sub-family B, member 7							114.0	102.0	106.0					X																	74288934		2203	4300	6503	SO:0001583	missense	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74288934C>T	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1567G>A	X.37:g.74288934C>T	ENSP00000362492:p.Glu523Lys					ABCB7_uc004ebz.2_Missense_Mutation_p.E524K|ABCB7_uc011mqn.1_Missense_Mutation_p.E497K|ABCB7_uc010nls.2_Missense_Mutation_p.E484K|ABCB7_uc010nlt.2_Missense_Mutation_p.E483K	p.E523K	NM_004299	NP_004290	O75027	ABCB7_HUMAN			12	1592	-			523			ABC transporter.		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37	c.1567G>A		.	.	.	.	.	.	.	.	.	.	C	27.7	4.852491	0.91355	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	5.24	5.24	0.73138	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.89670	0.6782	N	0.05199	-0.095	0.80722	D	1	D;D;D;D;D	0.76494	0.967;0.999;0.998;0.992;0.998	P;D;D;D;D	0.74348	0.84;0.982;0.983;0.933;0.972	D	0.92798	0.6254	10	0.87932	D	0	-13.9491	16.8091	0.85713	0.0:1.0:0.0:0.0	.	497;483;524;523;524	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	K	497;524;483;523;497	ENSP00000253577:E524K;ENSP00000343849:E483K;ENSP00000362492:E523K;ENSP00000436586:E497K	ENSP00000253577:E524K	E	-	1	0	ABCB7	74205659	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.277000	0.78572	2.174000	0.68829	0.594000	0.82650	GAG		0.403	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		70	61	0	0	0	0	70	61				
ATRX	546	broad.mit.edu	37	X	76891448	76891448	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:76891448G>C	ENST00000373344.5	-	16	4871	c.4657C>G	c.(4657-4659)Cat>Gat	p.H1553D	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.H1515D	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1553					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATATTTCTATGAACCTGCACT	0.323			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(4657-4659)CAT>GAT		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						83.0	68.0	73.0					X																	76891448		2203	4295	6498	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76891448G>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4657C>G	X.37:g.76891448G>C	ENSP00000362441:p.His1553Asp					ATRX_uc004ecq.3_Missense_Mutation_p.H1515D|ATRX_uc004eco.3_Missense_Mutation_p.H1338D	p.H1553D	NM_000489	NP_000480	P46100	ATRX_HUMAN			16	4889	-			1553					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.4657C>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405076	0.62288	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	T;T	0.23552	1.9;1.9	5.33	5.33	0.75918	.	0.000000	0.85682	U	0.000000	T	0.41743	0.1172	L	0.37630	1.12	0.80722	D	1	B;D	0.89917	0.168;1.0	B;D	0.83275	0.298;0.996	T	0.10132	-1.0643	10	0.24483	T	0.36	-10.2464	18.127	0.89589	0.0:0.0:1.0:0.0	.	1515;1553	P46100-4;P46100	.;ATRX_HUMAN	D	1553;1515	ENSP00000362441:H1553D;ENSP00000378967:H1515D	ENSP00000362441:H1553D	H	-	1	0	ATRX	76778104	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.576000	0.82467	2.217000	0.71921	0.513000	0.50165	CAT		0.323	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		27	14	0	0	0	0	27	14				
ZCCHC5	203430	broad.mit.edu	37	X	77913599	77913599	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:77913599C>T	ENST00000321110.1	-	2	614	c.319G>A	c.(319-321)Gag>Aag	p.E107K		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	107	Pro-rich.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GCTGGGGCCTCCTGGAGTTCC	0.637																																						uc004edc.1		NA																	0				ovary(1)	1						c.(319-321)GAG>AAG		zinc finger, CCHC domain containing 5							19.0	22.0	21.0					X																	77913599		2200	4291	6491	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77913599C>T	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.319G>A	X.37:g.77913599C>T	ENSP00000316794:p.Glu107Lys						p.E107K	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN			2	615	-			107			Pro-rich.		B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.319G>A	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.737431	0.30774	.	.	ENSG00000179300	ENST00000321110	T	0.25414	1.8	2.97	0.846	0.18955	.	.	.	.	.	T	0.15262	0.0368	N	0.24115	0.695	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.23511	-1.0186	9	0.51188	T	0.08	.	5.5244	0.16951	0.0:0.553:0.0:0.447	.	107	Q8N8U3	ZCHC5_HUMAN	K	107	ENSP00000316794:E107K	ENSP00000316794:E107K	E	-	1	0	ZCCHC5	77800255	0.000000	0.05858	0.002000	0.10522	0.070000	0.16714	0.187000	0.16998	0.076000	0.16826	0.422000	0.28245	GAG		0.637	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		8	13	0	0	0	0	8	13				
BRWD3	254065	broad.mit.edu	37	X	79999617	79999617	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:79999617C>T	ENST00000373275.4	-	8	943	c.727G>A	c.(727-729)Gat>Aat	p.D243N		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	243					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ACTACCTTATCACAGCTGCCT	0.443																																						uc004edt.2		NA																	0				ovary(4)	4						c.(727-729)GAT>AAT		bromodomain and WD repeat domain containing 3							138.0	116.0	123.0					X																	79999617		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79999617C>T		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.727G>A	X.37:g.79999617C>T	ENSP00000362372:p.Asp243Asn					BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_Missense_Mutation_p.D72N|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_5'UTR|BRWD3_uc004edr.2_5'UTR|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_Intron	p.D243N	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			8	990	-			243			WD 3.		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.727G>A	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042480	0.93685	.	.	ENSG00000165288	ENST00000373275	D	0.88975	-2.45	4.42	4.42	0.53409	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.96380	0.8819	H	0.97732	4.065	0.58432	D	0.999999	D	0.60575	0.988	D	0.67382	0.951	D	0.98149	1.0440	9	.	.	.	-17.1703	16.6562	0.85229	0.0:1.0:0.0:0.0	.	243	Q6RI45	BRWD3_HUMAN	N	243	ENSP00000362372:D243N	.	D	-	1	0	BRWD3	79886273	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.651000	0.83577	2.193000	0.70182	0.415000	0.27848	GAT		0.443	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		52	42	0	0	0	0	52	42				
ZMAT1	84460	broad.mit.edu	37	X	101139594	101139594	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:101139594C>G	ENST00000372782.3	-	7	852	c.805G>C	c.(805-807)Gaa>Caa	p.E269Q	ZMAT1_ENST00000458570.1_Missense_Mutation_p.E98Q|ZMAT1_ENST00000540921.1_Missense_Mutation_p.E269Q|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	269						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						AGTCTTTGTTCAAACATTCTA	0.413																																						uc004eim.2		NA																	0				ovary(1)	1						c.(292-294)GAA>CAA		zinc finger, matrin type 1 isoform 3							199.0	181.0	187.0					X																	101139594		2203	4300	6503	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101139594C>G	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.805G>C	X.37:g.101139594C>G	ENSP00000361868:p.Glu269Gln					ZMAT1_uc011mrl.1_Missense_Mutation_p.E269Q|ZMAT1_uc004ein.2_Missense_Mutation_p.E98Q|ZMAT1_uc011mrm.1_Missense_Mutation_p.E98Q	p.E98Q	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN			2	3790	-			98					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.292G>C	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	C	6.090	0.384894	0.11524	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.35605	1.89;1.89;1.3	4.27	2.47	0.30058	.	1.251600	0.05463	N	0.551602	T	0.34308	0.0893	M	0.68593	2.085	0.09310	N	1	P	0.48162	0.906	B	0.37601	0.254	T	0.33059	-0.9883	10	0.59425	D	0.04	-3.8768	4.8939	0.13740	0.0:0.6657:0.2139:0.1204	.	269	Q5H9K5	ZMAT1_HUMAN	Q	269;269;98	ENSP00000361868:E269Q;ENSP00000437529:E269Q;ENSP00000413044:E98Q	ENSP00000361868:E269Q	E	-	1	0	ZMAT1	101026250	0.998000	0.40836	0.019000	0.16419	0.080000	0.17528	2.079000	0.41577	0.528000	0.28580	0.538000	0.68166	GAA		0.413	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			80	56	0	0	0	0	80	56				
TCEAL2	140597	broad.mit.edu	37	X	101382452	101382452	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:101382452C>T	ENST00000372780.1	+	3	869	c.650C>T	c.(649-651)cCa>cTa	p.P217L	TCEAL2_ENST00000329035.2_Missense_Mutation_p.P217L	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						TGCAGGGCCCCACGAAGGGAC	0.473																																						uc004eip.2		NA																	0					0						c.(649-651)CCA>CTA		transcription elongation factor A (SII)-like 2							71.0	77.0	75.0					X																	101382452		2142	4248	6390	SO:0001583	missense	140597				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101382452C>T	AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.650C>T	X.37:g.101382452C>T	ENSP00000361866:p.Pro217Leu						p.P217L	NM_080390	NP_525129	Q9H3H9	TCAL2_HUMAN			3	869	+			217					B2R5C7	Missense_Mutation	SNP	ENST00000372780.1	37	c.650C>T	CCDS14496.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.094027	0.76870	.	.	ENSG00000184905	ENST00000372780;ENST00000329035	T;T	0.25414	1.8;1.8	2.88	2.88	0.33553	.	0.161453	0.29760	N	0.011280	T	0.23572	0.0570	N	0.14661	0.345	0.09310	N	1	D	0.62365	0.991	P	0.58577	0.841	T	0.03739	-1.1008	10	0.34782	T	0.22	.	8.4196	0.32692	0.0:1.0:0.0:0.0	.	217	Q9H3H9	TCAL2_HUMAN	L	217	ENSP00000361866:P217L;ENSP00000332359:P217L	ENSP00000332359:P217L	P	+	2	0	TCEAL2	101269108	0.038000	0.19896	0.046000	0.18839	0.985000	0.73830	1.436000	0.34980	1.711000	0.51337	0.594000	0.82650	CCA		0.473	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057605.1	NM_080390		46	73	0	0	0	0	46	73				
TCEAL5	340543	broad.mit.edu	37	X	102528931	102528931	+	Silent	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:102528931C>G	ENST00000372680.1	-	3	855	c.561G>C	c.(559-561)gtG>gtC	p.V187V		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TCACTCCCCTCACACCCCGTT	0.483																																						uc004ejz.1		NA																	0				lung(1)|breast(1)	2						c.(559-561)GTG>GTC		transcription elongation factor A (SII)-like 5							130.0	118.0	122.0					X																	102528931		2203	4300	6503	SO:0001819	synonymous_variant	340543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chrX:102528931C>G		CCDS35356.1	Xq22.2	2014-03-21			ENSG00000204065	ENSG00000204065			22282	protein-coding gene	gene with protein product						16221301	Standard	NM_001012979		Approved	WEX4	uc004ejz.2	Q5H9L2	OTTHUMG00000022092	ENST00000372680.1:c.561G>C	X.37:g.102528931C>G							p.V187V	NM_001012979	NP_001012997	Q5H9L2	TCAL5_HUMAN			3	856	-			187					A2RUJ4	Silent	SNP	ENST00000372680.1	37	c.561G>C	CCDS35356.1																																																																																				0.483	TCEAL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057696.1	XM_291334		49	63	0	0	0	0	49	63				
PLP1	5354	broad.mit.edu	37	X	103041593	103041593	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:103041593C>G	ENST00000303958.2	+	3	537	c.391C>G	c.(391-393)Caa>Gaa	p.Q131E	PLP1_ENST00000361621.2_Intron|PLP1_ENST00000418604.1_Missense_Mutation_p.Q131E	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	131			Missing (in HLD1).		astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						AGGCCAACATCAAGCTCATTC	0.542																																						uc010nov.2		NA																	0				ovary(1)	1						c.(391-393)CAA>GAA		proteolipid protein 1 isoform 1							146.0	124.0	132.0					X																	103041593		2203	4300	6503	SO:0001583	missense	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103041593C>G	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.391C>G	X.37:g.103041593C>G	ENSP00000305152:p.Gln131Glu					RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Missense_Mutation_p.Q131E|PLP1_uc004elj.2_Intron|PLP1_uc011msf.1_Missense_Mutation_p.Q76E|PLP1_uc010now.1_Missense_Mutation_p.Q135E|PLP1_uc010nox.2_Missense_Mutation_p.Q85E	p.Q131E	NM_001128834	NP_001122306	P60201	MYPR_HUMAN			4	671	+			131		Missing (in HLD1).	Cytoplasmic (Probable).		P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	ENST00000303958.2	37	c.391C>G	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	C	9.545	1.114488	0.20795	.	.	ENSG00000123560	ENST00000429977;ENST00000455268;ENST00000418604;ENST00000303958;ENST00000428755	D;D;D;D	0.99239	-5.06;-4.97;-5.61;-5.61	5.78	5.78	0.91487	.	0.167911	0.40385	N	0.001116	D	0.96682	0.8917	N	0.22421	0.69	0.28715	N	0.903353	B;B;B;B	0.11235	0.004;0.0;0.0;0.0	B;B;B;B	0.09377	0.004;0.004;0.001;0.004	D	0.87167	0.2218	10	0.06365	T	0.9	-8.412	16.1536	0.81640	0.0:1.0:0.0:0.0	.	76;131;131;131	B4DI30;A8K9L3;B1B1G6;P60201	.;.;.;MYPR_HUMAN	E	131;131;131;131;109	ENSP00000399913:Q131E;ENSP00000409802:Q131E;ENSP00000405750:Q131E;ENSP00000305152:Q131E	ENSP00000305152:Q131E	Q	+	1	0	PLP1	102928249	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.930000	0.56522	2.417000	0.82017	0.600000	0.82982	CAA		0.542	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			89	87	0	0	0	0	89	87				
H2BFWT	158983	broad.mit.edu	37	X	103267305	103267305	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:103267305G>A	ENST00000217926.5	-	2	533	c.507C>T	c.(505-507)gcC>gcT	p.A169A	H2BFM_ENST00000243297.5_5'Flank	NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	169						membrane (GO:0016020)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						gttgctgtatggcatacagtg	0.398																																						uc004elr.2		NA																	0				ovary(1)	1						c.(505-507)GCC>GCT		H2B histone family, member W, testis-specific							238.0	194.0	209.0					X																	103267305		2203	4300	6503	SO:0001819	synonymous_variant	158983				nucleosome assembly	nuclear membrane|nucleosome	DNA binding	g.chrX:103267305G>A	BC038109	CCDS35362.1	Xq22.2	2011-01-27			ENSG00000123569	ENSG00000123569		"""Histones / Replication-independent"""	27252	protein-coding gene	gene with protein product		300507				12477932	Standard	NM_001002916		Approved		uc004elr.3	Q7Z2G1	OTTHUMG00000022120	ENST00000217926.5:c.507C>T	X.37:g.103267305G>A							p.A169A	NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN			2	531	-			169					B1AK72|Q147W3	Silent	SNP	ENST00000217926.5	37	c.507C>T	CCDS35362.1																																																																																				0.398	H2BFWT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057756.2	NM_001002916		23	85	0	0	0	0	23	85				
ESX1	80712	broad.mit.edu	37	X	103499187	103499187	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:103499187C>G	ENST00000372588.4	-	2	237	c.154G>C	c.(154-156)Gag>Cag	p.E52Q		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	52					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GTTCCGTACTCAGGTTTGGAC	0.587																																					Pancreas(200;1705 2227 25194 28471 45274)	uc004ely.2		NA																	0				ovary(1)	1						c.(154-156)GAG>CAG		extraembryonic, spermatogenesis, homeobox							186.0	174.0	178.0					X																	103499187		2203	4300	6503	SO:0001583	missense	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103499187C>G	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.154G>C	X.37:g.103499187C>G	ENSP00000361669:p.Glu52Gln						p.E52Q	NM_153448	NP_703149	Q8N693	ESX1_HUMAN			2	212	-			52					B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	c.154G>C	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	c	15.60	2.881922	0.51908	.	.	ENSG00000123576	ENST00000372588	D	0.91843	-2.92	4.04	1.21	0.21127	.	.	.	.	.	T	0.81805	0.4900	N	0.14661	0.345	0.09310	N	1	B	0.34290	0.447	B	0.34180	0.177	T	0.70274	-0.4917	9	0.28530	T	0.3	-1.3953	5.6265	0.17485	0.0:0.5178:0.3685:0.1137	.	52	Q8N693	ESX1_HUMAN	Q	52	ENSP00000361669:E52Q	ENSP00000361669:E52Q	E	-	1	0	ESX1	103385843	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	0.057000	0.14279	0.124000	0.18369	0.411000	0.27672	GAG		0.587	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		119	130	0	0	0	0	119	130				
DOCK11	139818	broad.mit.edu	37	X	117773418	117773418	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:117773418C>G	ENST00000276202.7	+	38	4085	c.4022C>G	c.(4021-4023)tCa>tGa	p.S1341*	DOCK11_ENST00000276204.6_Nonsense_Mutation_p.S1341*	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1341					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GCCTGGCTGTCAAAACACTTC	0.393																																						uc004eqp.2		NA																	0				ovary(3)	3						c.(4021-4023)TCA>TGA		dedicator of cytokinesis 11							89.0	79.0	82.0					X																	117773418		2203	4300	6503	SO:0001587	stop_gained	139818				blood coagulation	cytosol	GTP binding	g.chrX:117773418C>G	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4022C>G	X.37:g.117773418C>G	ENSP00000276202:p.Ser1341*					DOCK11_uc004eqq.2_Nonsense_Mutation_p.S1120*	p.S1341*	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			38	4085	+			1341					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Nonsense_Mutation	SNP	ENST00000276202.7	37	c.4022C>G	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	C	44	10.876288	0.99482	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	.	.	.	5.26	5.26	0.73747	.	0.205198	0.43579	D	0.000556	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-12.1817	18.314	0.90213	0.0:1.0:0.0:0.0	.	.	.	.	X	1341	.	ENSP00000276202:S1341X	S	+	2	0	DOCK11	117657446	0.624000	0.27102	0.993000	0.49108	0.928000	0.56348	2.301000	0.43628	2.352000	0.79861	0.468000	0.43344	TCA		0.393	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		3	91	0	0	0	0	3	91				
KIAA1210	57481	broad.mit.edu	37	X	118220824	118220824	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:118220824C>T	ENST00000402510.2	-	11	4368	c.4369G>A	c.(4369-4371)Gat>Aat	p.D1457N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1457										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTATTACCATCACCACTCTCA	0.453																																						uc004era.3		NA																	0				ovary(4)|skin(1)	5						c.(4369-4371)GAT>AAT		hypothetical protein LOC57481							82.0	76.0	78.0					X																	118220824		1865	4093	5958	SO:0001583	missense	57481							g.chrX:118220824C>T	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4369G>A	X.37:g.118220824C>T	ENSP00000384670:p.Asp1457Asn						p.D1457N	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			11	4369	-			1457					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.4369G>A	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.119717	0.37436	.	.	ENSG00000250423	ENST00000402510	T	0.13657	2.57	5.13	-2.69	0.06022	.	.	.	.	.	T	0.08179	0.0204	N	0.25380	0.74	0.09310	N	1	B	0.27229	0.172	B	0.23716	0.048	T	0.32241	-0.9914	9	0.39692	T	0.17	.	6.9483	0.24530	0.0:0.2309:0.1434:0.6257	.	1457	Q9ULL0	K1210_HUMAN	N	1457	ENSP00000384670:D1457N	ENSP00000384670:D1457N	D	-	1	0	RP13-347D8.6	118104852	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.368000	0.07543	-0.685000	0.05177	0.513000	0.50165	GAT		0.453	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		31	32	0	0	0	0	31	32				
BCORL1	63035	broad.mit.edu	37	X	129147430	129147430	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:129147430C>T	ENST00000218147.7	+	4	879	c.682C>T	c.(682-684)Cct>Tct	p.P228S	BCORL1_ENST00000303743.5_Missense_Mutation_p.P228S|BCORL1_ENST00000359304.2_Missense_Mutation_p.P228S|BCORL1_ENST00000540052.1_Missense_Mutation_p.P228S			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	228	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCTCTCCGTCCCTGCCCCAGT	0.622																																						uc004evb.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.(682-684)CCT>TCT		BCL6 co-repressor-like 1							149.0	133.0	139.0					X																	129147430		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129147430C>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.682C>T	X.37:g.129147430C>T	ENSP00000218147:p.Pro228Ser					BCORL1_uc010nrd.1_Missense_Mutation_p.P130S	p.P228S	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			4	796	+			228			Pro-rich.		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.682C>T	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.415528	0.42817	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.53423	0.67;1.06;0.62;0.67	4.72	4.72	0.59763	.	0.000000	0.35040	N	0.003499	T	0.29028	0.0721	N	0.08118	0	0.33213	D	0.5536	P;P	0.46142	0.873;0.59	B;B	0.44108	0.441;0.078	T	0.36237	-0.9756	9	.	.	.	-10.238	10.3463	0.43907	0.0:0.9045:0.0:0.0955	.	228;228	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	S	228	ENSP00000218147:P228S;ENSP00000307541:P228S;ENSP00000352253:P228S;ENSP00000437775:P228S	.	P	+	1	0	BCORL1	128975111	0.002000	0.14202	0.875000	0.34327	0.818000	0.46254	1.108000	0.31123	1.917000	0.55516	0.436000	0.28706	CCT		0.622	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		5	178	0	0	0	0	5	178				
IDS	3423	broad.mit.edu	37	X	148577955	148577955	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:148577955C>G	ENST00000340855.6	-	6	1010	c.801G>C	c.(799-801)tgG>tgC	p.W267C	IDS_ENST00000370443.4_Missense_Mutation_p.W267C|IDS_ENST00000490775.1_5'UTR|IDS_ENST00000370441.4_Missense_Mutation_p.W267C|IDS_ENST00000541269.1_Missense_Mutation_p.W56C|IDS_ENST00000422081.2_Missense_Mutation_p.W56C	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	267					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TGATGTCCATCCAGGGGTTGT	0.542																																						uc011mxe.1		NA																	0					0	GRCh37	CM050272|CM050273	IDS	M		c.(799-801)TGG>TGC		iduronate-2-sulfatase isoform a precursor							171.0	142.0	152.0					X																	148577955		2203	4300	6503	SO:0001583	missense	3423					lysosome	iduronate-2-sulfatase activity|metal ion binding	g.chrX:148577955C>G	M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.801G>C	X.37:g.148577955C>G	ENSP00000339801:p.Trp267Cys					IDS_uc011mxf.1_Missense_Mutation_p.W177C|IDS_uc011mxg.1_Missense_Mutation_p.W56C|IDS_uc010nsu.1_Intron|IDS_uc004fcw.3_Missense_Mutation_p.W56C|IDS_uc011mxh.1_Missense_Mutation_p.W267C|IDS_uc011mxi.1_RNA	p.W267C	NM_000202	NP_000193	P22304	IDS_HUMAN			6	999	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		267					D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	ENST00000340855.6	37	c.801G>C	CCDS14685.1	.	.	.	.	.	.	.	.	.	.	c	21.2	4.115848	0.77323	.	.	ENSG00000010404	ENST00000340855;ENST00000541269;ENST00000370441;ENST00000370443	D;D;D;D	0.99896	-7.6;-7.6;-7.6;-7.6	5.37	5.37	0.77165	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99866	0.9937	M	0.74546	2.27	0.80722	D	1	B;D;P	0.89917	0.211;1.0;0.885	B;D;P	0.77557	0.192;0.99;0.566	D	0.96481	0.9356	10	0.59425	D	0.04	.	18.4251	0.90606	0.0:1.0:0.0:0.0	.	267;177;267	P22304-2;B4DGD7;P22304	.;.;IDS_HUMAN	C	267;56;267;267	ENSP00000339801:W267C;ENSP00000441261:W56C;ENSP00000359470:W267C;ENSP00000359472:W267C	ENSP00000339801:W267C	W	-	3	0	IDS	148385860	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.412000	0.80091	2.379000	0.81126	0.540000	0.68198	TGG		0.542	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3			6	187	0	0	0	0	6	187				
IDS	3423	broad.mit.edu	37	X	148586602	148586602	+	Silent	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:148586602G>A	ENST00000340855.6	-	1	275	c.66C>T	c.(64-66)gtC>gtT	p.V22V	IDS_ENST00000370443.4_Silent_p.V22V|IDS_ENST00000490775.1_5'Flank|IDS_ENST00000428056.2_Silent_p.V22V|IDS_ENST00000427113.2_Intron|IDS_ENST00000370441.4_Silent_p.V22V|IDS_ENST00000541269.1_Intron|IDS_ENST00000422081.2_Intron	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	22					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ATCCGAGGGCGACGCAGACGG	0.682																																						uc011mxe.1		NA																	0					0						c.(64-66)GTC>GTT		iduronate-2-sulfatase isoform a precursor							92.0	69.0	77.0					X																	148586602		2203	4300	6503	SO:0001819	synonymous_variant	3423					lysosome	iduronate-2-sulfatase activity|metal ion binding	g.chrX:148586602G>A	M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.66C>T	X.37:g.148586602G>A						IDS_uc011mxf.1_5'UTR|IDS_uc011mxg.1_5'UTR|IDS_uc010nsu.1_Intron|IDS_uc004fcw.3_Intron|IDS_uc011mxh.1_Silent_p.V22V|IDS_uc011mxi.1_RNA|IDS_uc011mxj.1_Silent_p.V22V	p.V22V	NM_000202	NP_000193	P22304	IDS_HUMAN			1	264	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		22					D3DWT4|Q14604|Q9BRM3	Silent	SNP	ENST00000340855.6	37	c.66C>T	CCDS14685.1																																																																																				0.682	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3			17	24	0	0	0	0	17	24				
MAGEA11	4110	broad.mit.edu	37	X	148798247	148798247	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:148798247G>C	ENST00000355220.5	+	5	1203	c.1101G>C	c.(1099-1101)aaG>aaC	p.K367N	MAGEA11_ENST00000333104.4_Missense_Mutation_p.K338N	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	367	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TGCAGGAAAAGTACCTGGTGT	0.557																																						uc004fdq.2		NA																	0				ovary(2)	2						c.(1099-1101)AAG>AAC		melanoma antigen family A, 11 isoform a							126.0	129.0	128.0					X																	148798247		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148798247G>C		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.1101G>C	X.37:g.148798247G>C	ENSP00000347358:p.Lys367Asn					HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.K338N	p.K367N	NM_005366	NP_005357	P43364	MAGAB_HUMAN			5	1203	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		367			MAGE.		Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.1101G>C	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	1.575	-0.533107	0.04112	.	.	ENSG00000185247	ENST00000333104;ENST00000355220	T;T	0.05139	3.49;3.49	0.909	0.909	0.19332	.	.	.	.	.	T	0.03390	0.0098	N	0.13371	0.34	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.15052	0.007;0.012	T	0.46762	-0.9168	8	.	.	.	.	4.8361	0.13466	0.0:0.0:1.0:0.0	.	338;367	G5E962;P43364	.;MAGAB_HUMAN	N	338;367	ENSP00000328177:K338N;ENSP00000347358:K367N	.	K	+	3	2	MAGEA11	148576158	0.019000	0.18553	0.005000	0.12908	0.338000	0.28826	-0.274000	0.08537	0.721000	0.32231	0.377000	0.23210	AAG		0.557	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		92	96	0	0	0	0	92	96				
PLXNA3	55558	broad.mit.edu	37	X	153693806	153693806	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:153693806G>A	ENST00000369682.3	+	12	2459	c.2284G>A	c.(2284-2286)Gac>Aac	p.D762N		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	762					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACCGAGCTGGACTTCTCCGT	0.552																																						uc004flm.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(2284-2286)GAC>AAC		plexin A3 precursor							118.0	108.0	112.0					X																	153693806		2203	4300	6503	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153693806G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.2284G>A	X.37:g.153693806G>A	ENSP00000358696:p.Asp762Asn						p.D762N	NM_017514	NP_059984	P51805	PLXA3_HUMAN			12	2457	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		762			Extracellular (Potential).		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.2284G>A	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521931	0.44866	.	.	ENSG00000130827	ENST00000369682	T	0.49139	0.79	5.45	5.45	0.79879	.	0.047767	0.85682	D	0.000000	T	0.42063	0.1186	L	0.46741	1.465	0.58432	D	0.99999	B	0.09022	0.002	B	0.10450	0.005	T	0.30268	-0.9984	10	0.13470	T	0.59	.	16.9704	0.86297	0.0:0.0:1.0:0.0	.	762	P51805	PLXA3_HUMAN	N	762	ENSP00000358696:D762N	ENSP00000358696:D762N	D	+	1	0	PLXNA3	153347000	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.674000	0.46867	2.270000	0.75569	0.529000	0.55759	GAC		0.552	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		56	40	0	0	0	0	56	40				
DDX3Y	8653	broad.mit.edu	37	Y	15028313	15028313	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrY:15028313C>A	ENST00000336079.3	+	13	1556	c.1450C>A	c.(1450-1452)Cag>Aag	p.Q484K	DDX3Y_ENST00000360160.4_Missense_Mutation_p.Q484K	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	484	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						GGCCCTTCACCAGTTTCGCTC	0.398																																						uc004fsu.1		NA																	0					0						c.(1450-1452)CAG>AAG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 3,							77.0	71.0	72.0					Y																	15028313		601	1959	2560	SO:0001583	missense	8653					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding	g.chrY:15028313C>A	AF000984	CCDS14782.1	Yq11	2013-07-16	2013-07-16	2003-06-20	ENSG00000067048	ENSG00000067048		"""DEAD-boxes"""	2699	protein-coding gene	gene with protein product		400010	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked"""	DBY		9381176	Standard	NM_004660		Approved		uc004fsv.2	O15523	OTTHUMG00000036324	ENST00000336079.3:c.1450C>A	Y.37:g.15028313C>A	ENSP00000336725:p.Gln484Lys					DDX3Y_uc004fsv.2_Missense_Mutation_p.Q484K|DDX3Y_uc010nww.1_Missense_Mutation_p.Q300K|DDX3Y_uc011nar.1_Missense_Mutation_p.Q481K	p.Q484K	NM_001122665	NP_001116137	O15523	DDX3Y_HUMAN			14	1759	+			484			Helicase C-terminal.		B4DK29|B4DXX7|Q8IYV7	Missense_Mutation	SNP	ENST00000336079.3	37	c.1450C>A	CCDS14782.1																																																																																				0.398	DDX3Y-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088407.1	NM_004660		14	161	1	0	0.00316338	0.00321069	14	161				
USH2A	7399	broad.mit.edu	37	1	216498758	216498758	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr1:216498758delA	ENST00000307340.3	-	6	1418	c.1032delT	c.(1030-1032)tttfs	p.F344fs	USH2A_ENST00000366943.2_Frame_Shift_Del_p.F344fs|USH2A_ENST00000366942.3_Frame_Shift_Del_p.F344fs	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	344	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATCATTGACAAAAGAGAGAG	0.408										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(1030-1032)TTTfs		usherin isoform B							116.0	105.0	109.0					1																	216498758		2203	4300	6503	SO:0001589	frameshift_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216498758delA	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1032delT	1.37:g.216498758delA	ENSP00000305941:p.Phe344fs	HNSCC(13;0.011)				USH2A_uc001hkv.2_Frame_Shift_Del_p.F344fs	p.F344fs	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	6	1419	-			344			Laminin N-terminal.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Frame_Shift_Del	DEL	ENST00000307340.3	37	c.1032delT	CCDS31025.1																																																																																				0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		48	116	NA	NA	NA	NA	48	116	---	---	---	---
DPAGT1	1798	broad.mit.edu	37	11	118971068	118971069	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr11:118971068_118971069insA	ENST00000409993.2	-	6	2097_2098	c.546_547insT	c.(544-549)aatgccfs	p.A183fs	DPAGT1_ENST00000432443.2_Frame_Shift_Ins_p.A76fs|DPAGT1_ENST00000445653.1_5'Flank|DPAGT1_ENST00000354202.4_Frame_Shift_Ins_p.A183fs			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	183					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		ATATTGATGGCATTGGTACAGA	0.5											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pvi.2		NA																	0				breast(2)|ovary(1)	3						c.(544-549)AATGCCfs		UDP-N-acetylglucosamine-dolichyl-phosphate																																				SO:0001589	frameshift_variant	1798				dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	g.chr11:118971068_118971069insA	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.547dupT	11.37:g.118971069_118971069dupA	ENSP00000386597:p.Ala183fs		OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492	DPAGT1_uc001pvj.2_Frame_Shift_Ins_p.N75fs|DPAGT1_uc009zaq.2_RNA|DPAGT1_uc001pvk.2_Frame_Shift_Ins_p.N10fs|DPAGT1_uc010ryz.1_Frame_Shift_Ins_p.N182fs|DPAGT1_uc001pvm.1_Frame_Shift_Ins_p.N75fs|DPAGT1_uc010rza.1_Frame_Shift_Ins_p.N75fs	p.N182fs	NM_001382	NP_001373	Q9H3H5	GPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	4	966_967	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	182_183			Helical; (Potential).		O15216|Q86WV9|Q9BWE6	Frame_Shift_Ins	INS	ENST00000409993.2	37	c.546_547insT	CCDS8411.1																																																																																				0.500	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		36	124	NA	NA	NA	NA	36	124	---	---	---	---
FUS	2521	broad.mit.edu	37	16	31193962	31193962	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr16:31193962delC	ENST00000254108.7	+	3	272	c.167delC	c.(166-168)tctfs	p.S57fs	FUS_ENST00000568685.1_Frame_Shift_Del_p.S57fs|FUS_ENST00000380244.3_Frame_Shift_Del_p.S57fs|RP11-388M20.6_ENST00000564743.1_RNA	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	57	Gln/Gly/Ser/Tyr-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		AGCAGCTATTCTTCTTATGGC	0.493			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																	uc002ebf.2		NA		Dom	yes		16	16p11.2	2521	T	"""fusion, derived from t(12;16) malignant liposarcoma"""			"""M, L"""	DDIT3|ERG|FEV|ATF1|CREB3L2|CREB3L1		liposarcoma|AML|Ewing sarcoma|angiomatoid fibrous histiocytoma|fibromyxoid sarcoma	FUS/DDIT3(623)|FUS/ERG(163)|FUS/CREB3L2(158)|FUS/CREB3L1(6)|FUS/ATF1(4)|FUS/FEV(2)	0				soft_tissue(791)|haematopoietic_and_lymphoid_tissue(153)|bone(12)|breast(2)	958						c.(166-168)TCTfs		fusion (involved in t(12;16) in malignant							103.0	98.0	100.0					16																	31193962		2197	4300	6497	SO:0001589	frameshift_variant	2521				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr16:31193962delC	AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.167delC	16.37:g.31193962delC	ENSP00000254108:p.Ser57fs					FUS_uc002ebe.1_Frame_Shift_Del_p.S56fs|FUS_uc002ebh.2_Frame_Shift_Del_p.S56fs|FUS_uc002ebg.2_5'UTR|FUS_uc002ebi.2_Frame_Shift_Del_p.S56fs|FUS_uc002ebj.2_5'UTR|FUS_uc010vfi.1_Frame_Shift_Del_p.S56fs	p.S56fs	NM_004960	NP_004951	P35637	FUS_HUMAN		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)	3	250	+		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)	56			Gln/Gly/Ser/Tyr-rich.		Q9H4A8	Frame_Shift_Del	DEL	ENST00000254108.7	37	c.167delC	CCDS10707.1																																																																																				0.493	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	NM_004960		7	213	NA	NA	NA	NA	7	213	---	---	---	---
TMEM132E	124842	broad.mit.edu	37	17	32962027	32962027	+	Frame_Shift_Del	DEL	G	G	-	rs200998663		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:32962027delG	ENST00000321639.5	+	8	1956	c.1628delG	c.(1627-1629)cggfs	p.R543fs		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	543						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GACTTCATGCGGGTGGGCGAT	0.617																																						uc002hif.2		NA																	0				central_nervous_system(1)	1						c.(1627-1629)CGGfs		transmembrane protein 132E precursor							79.0	61.0	67.0					17																	32962027		2203	4300	6503	SO:0001589	frameshift_variant	124842					integral to membrane		g.chr17:32962027delG	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1628delG	17.37:g.32962027delG	ENSP00000316532:p.Arg543fs						p.R543fs	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	8	1956	+			543			Extracellular (Potential).		Q8WUF4|Q8WVA5	Frame_Shift_Del	DEL	ENST00000321639.5	37	c.1628delG	CCDS11283.1																																																																																				0.617	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		23	80	NA	NA	NA	NA	23	80	---	---	---	---
ACSF2	80221	broad.mit.edu	37	17	48551078	48551082	+	Frame_Shift_Del	DEL	AAGGA	AAGGA	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr17:48551078_48551082delAAGGA	ENST00000300441.4	+	13	1632_1636	c.1528_1532delAAGGA	c.(1528-1533)aaggatfs	p.KD510fs	ACSF2_ENST00000504392.1_Frame_Shift_Del_p.KD467fs|ACSF2_ENST00000427954.2_Frame_Shift_Del_p.KD535fs|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000541920.1_Frame_Shift_Del_p.KD350fs|ACSF2_ENST00000502667.1_Frame_Shift_Del_p.KD497fs	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	510					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGGCCGCTCTAAGGATATGATCATC	0.551																																						uc002iqu.2		NA																	0					0						c.(1528-1533)AAGGATfs		acyl-CoA synthetase family member 2 precursor																																				SO:0001589	frameshift_variant	80221				fatty acid metabolic process	mitochondrion	ATP binding|ligase activity	g.chr17:48551078_48551082delAAGGA	AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"""Acyl-CoA synthetase family"""	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.1528_1532delAAGGA	17.37:g.48551078_48551082delAAGGA	ENSP00000300441:p.Lys510fs					ACSF2_uc010wml.1_Frame_Shift_Del_p.K467fs|ACSF2_uc010wmm.1_Frame_Shift_Del_p.K535fs|ACSF2_uc010wmn.1_Frame_Shift_Del_p.K497fs|ACSF2_uc010wmo.1_Frame_Shift_Del_p.K350fs|ACSF2_uc010dbt.1_Frame_Shift_Del_p.K14fs	p.K510fs	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		13	1632_1636	+	Breast(11;1.93e-18)		510_511					B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Frame_Shift_Del	DEL	ENST00000300441.4	37	c.1528_1532delAAGGA	CCDS11567.1																																																																																				0.551	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3	NM_025149		36	153	NA	NA	NA	NA	36	153	---	---	---	---
SIGLEC14	100049587	broad.mit.edu	37	19	52149128	52149129	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr19:52149128_52149129insG	ENST00000360844.6	-	3	647_648	c.606_607insC	c.(604-609)cccaggfs	p.R203fs	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_5'Flank|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	203	Ig-like C2-type 1.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TCCTCGGGCCTGGGGGTGAGGG	0.634																																						uc002pxf.3		NA																	0				ovary(1)	1						c.(604-609)CCCAGGfs		sialic acid binding Ig-like lectin 14 precursor																																				SO:0001589	frameshift_variant	100049587				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	g.chr19:52149128_52149129insG	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.607dupC	19.37:g.52149133_52149133dupG	ENSP00000354090:p.Arg203fs						p.P202fs	NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)	3	726_727	-		all_neural(266;0.0299)	202_203			Ig-like C2-type 1.|Extracellular (Potential).		Q6UXG0	Frame_Shift_Ins	INS	ENST00000360844.6	37	c.606_607insC	CCDS42604.1																																																																																				0.634	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612		10	49	NA	NA	NA	NA	10	49	---	---	---	---
PLXNA1	5361	broad.mit.edu	37	3	126736358	126736358	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr3:126736358delC	ENST00000393409.2	+	17	3367	c.3367delC	c.(3367-3369)ccgfs	p.P1123fs	PLXNA1_ENST00000251772.4_Frame_Shift_Del_p.P1100fs	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1123	IPT/TIG 3.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GGGGGAGCGGCCGGATGAGCT	0.637																																						uc003ejg.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(3298-3300)CCGfs		plexin A1							85.0	85.0	85.0					3																	126736358		2203	4300	6503	SO:0001589	frameshift_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126736358delC	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3367delC	3.37:g.126736358delC	ENSP00000377061:p.Pro1123fs						p.P1100fs	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	17	3302	+			1123			Extracellular (Potential).|IPT/TIG 3.			Frame_Shift_Del	DEL	ENST00000393409.2	37	c.3298delC	CCDS33847.2																																																																																				0.637	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		84	167	NA	NA	NA	NA	84	167	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155155862	155155862	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr4:155155862delG	ENST00000357232.4	-	25	8576	c.8577delC	c.(8575-8577)cccfs	p.P2859fs		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2859					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAAGATGGTAGGGGATGGGAG	0.542																																						uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(8575-8577)CCCfs		dachsous 2 isoform 1							136.0	132.0	133.0					4																	155155862		2203	4300	6503	SO:0001589	frameshift_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155155862delG	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.8577delC	4.37:g.155155862delG	ENSP00000349768:p.Pro2859fs						p.P2859fs	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	8577	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2859					B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Frame_Shift_Del	DEL	ENST00000357232.4	37	c.8577delC	CCDS3785.1																																																																																				0.542	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		47	189	NA	NA	NA	NA	47	189	---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144942429	144942435	+	Frame_Shift_Del	DEL	GGAAGAG	GGAAGAG	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chr8:144942429_144942435delGGAAGAG	ENST00000525985.1	-	2	5058_5064	c.4987_4993delCTCTTCC	c.(4987-4995)ctcttccagfs	p.LFQ1663fs				P58107	EPIPL_HUMAN	epiplakin 1	1663						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCATGGCCTGGAAGAGGGAGATCTGC	0.647																																						uc003zaa.1		NA																	0				pancreas(1)|skin(1)	2						c.(4987-4995)CTCTTCCAGfs		epiplakin 1																																				SO:0001589	frameshift_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144942429_144942435delGGAAGAG	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4987_4993delCTCTTCC	8.37:g.144942429_144942435delGGAAGAG	ENSP00000436337:p.Leu1663fs						p.L1663fs	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	5000_5006	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1663_1665			Plectin 28.		Q76E58|Q9NSU9	Frame_Shift_Del	DEL	ENST00000525985.1	37	c.4987_4993delCTCTTCC																																																																																					0.647	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		22	161	NA	NA	NA	NA	22	161	---	---	---	---
DDX3X	1654	broad.mit.edu	37	X	41196718	41196719	+	Splice_Site	INS	-	-	G			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:41196718_41196719insG	ENST00000399959.2	+	2	958	c.103_103insG	c.(103-105)aaa>Gaaa	p.K35fs	DDX3X_ENST00000441189.2_Splice_Site_p.K35fs|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Splice_Site_p.S35fs|DDX3X_ENST00000542215.1_Splice_Site_p.K79fs	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	35	Interaction with EIF4E.|Required for TBK1 and IKBKE-dependent IFN-beta activation.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TACAGCCAGCAGTAAGTACAAC	0.371										HNSCC(61;0.18)																												uc004dfe.2		NA																	0				ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.e2+1		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3																																				SO:0001630	splice_region_variant	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41196718_41196719insG	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.103+1->G	X.37:g.41196719_41196719dupG		HNSCC(61;0.18)				DDX3X_uc004dfd.1_Splice_Site|DDX3X_uc010nhf.1_Splice_Site_p.S35_splice|DDX3X_uc004dff.2_Splice_Site_p.K35_splice|DDX3X_uc011mkq.1_Splice_Site_p.S35_splice|DDX3X_uc011mkr.1_Splice_Site_p.K35_splice|DDX3X_uc011mks.1_Splice_Site_p.K35_splice|DDX3X_uc004dfg.2_Splice_Site|DDX3X_uc011mkt.1_Splice_Site	p.K35_splice	NM_001356	NP_001347	O00571	DDX3X_HUMAN			2	958	+								A8K538|B4E3E8|O15536	Splice_Site	INS	ENST00000399959.2	37	c.103_splice	CCDS43931.1																																																																																				0.371	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005	Frame_Shift_Ins	35	49	NA	NA	NA	NA	35	49	---	---	---	---
VSIG4	11326	broad.mit.edu	37	X	65242121	65242121	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:65242121delC	ENST00000374737.4	-	8	1292	c.1184delG	c.(1183-1185)ggcfs	p.G395fs	VSIG4_ENST00000412866.2_Frame_Shift_Del_p.G301fs|VSIG4_ENST00000455586.2_3'UTR	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	395					complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACACTTTTGCCCTCAGTGGC	0.512																																						uc004dwh.2		NA																	0					0						c.(1183-1185)GGCfs		V-set and immunoglobulin domain containing 4							71.0	61.0	65.0					X																	65242121		2203	4300	6503	SO:0001589	frameshift_variant	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65242121delC	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.1184delG	X.37:g.65242121delC	ENSP00000363869:p.Gly395fs					VSIG4_uc004dwi.2_Frame_Shift_Del_p.G301fs|VSIG4_uc010nkq.1_3'UTR|VSIG4_uc004dwj.2_3'UTR|VSIG4_uc011moy.1_3'UTR|VSIG4_uc004dwk.2_3'UTR|VSIG4_uc004dwl.2_Intron	p.G395fs	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN			8	1311	-			395			Cytoplasmic (Potential).		Q6UXI4	Frame_Shift_Del	DEL	ENST00000374737.4	37	c.1184delG	CCDS14383.1																																																																																				0.512	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		39	28	NA	NA	NA	NA	39	28	---	---	---	---
HEPH	9843	broad.mit.edu	37	X	65479995	65479995	+	Frame_Shift_Del	DEL	G	G	-	rs200187054		TCGA-CN-4723-01A-01D-1434-08	TCGA-CN-4723-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5d71c48-1a2d-4d7d-8f2c-e3a68352776b	6dbae798-f66d-4d95-9262-7408cf83ab15	g.chrX:65479995delG	ENST00000343002.2	+	18	3754	c.3090delG	c.(3088-3090)gagfs	p.E1030fs	HEPH_ENST00000374727.3_Frame_Shift_Del_p.E1033fs|HEPH_ENST00000519389.1_Frame_Shift_Del_p.E1084fs|HEPH_ENST00000441993.2_Frame_Shift_Del_p.E1033fs|HEPH_ENST00000419594.1_Frame_Shift_Del_p.E841fs|HEPH_ENST00000336279.5_Frame_Shift_Del_p.E763fs			Q9BQS7	HEPH_HUMAN	hephaestin	1030	Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGACTTTTGAGGTTGTGGAGA	0.517																																						uc011moz.1		NA																	0				lung(5)|ovary(4)	9						c.(3097-3099)GAGfs		hephaestin isoform a							111.0	92.0	98.0					X																	65479995		2203	4300	6503	SO:0001589	frameshift_variant	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65479995delG	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3090delG	X.37:g.65479995delG	ENSP00000343939:p.Glu1030fs					HEPH_uc004dwn.2_Frame_Shift_Del_p.E1033fs|HEPH_uc004dwo.2_Frame_Shift_Del_p.E763fs|HEPH_uc010nkr.2_Frame_Shift_Del_p.E841fs|HEPH_uc011mpa.1_Frame_Shift_Del_p.E1033fs	p.E1033fs	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			19	3159	+			1030			Extracellular (Potential).|Plastocyanin-like 6.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Frame_Shift_Del	DEL	ENST00000343002.2	37	c.3099delG																																																																																					0.517	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		38	43	NA	NA	NA	NA	38	43	---	---	---	---
