#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
MRPL20	55052	broad.mit.edu	37	1	1341194	1341194	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:1341194C>G	ENST00000344843.7	-	3	366	c.271G>C	c.(271-273)Gtt>Ctt	p.V91L	MRPL20_ENST00000482352.1_Missense_Mutation_p.V91L|RN7SL657P_ENST00000582431.1_RNA|MRPL20_ENST00000493287.1_5'UTR	NM_017971.3	NP_060441.2	Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	91					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CATACCTTAACTAAATTCCCA	0.453																																						uc001afo.3		NA																	0					0						c.(271-273)GTT>CTT		mitochondrial ribosomal protein L20 precursor							166.0	164.0	165.0					1																	1341194		2203	4300	6503	SO:0001583	missense	55052						protein binding|rRNA binding	g.chr1:1341194C>G	AB049644	CCDS26.1	1p36.3-p36.2	2012-09-13			ENSG00000242485	ENSG00000242485		"""Mitochondrial ribosomal proteins / large subunits"""	14478	protein-coding gene	gene with protein product		611833					Standard	NM_017971		Approved	FLJ10024	uc001afo.4	Q9BYC9	OTTHUMG00000002916	ENST00000344843.7:c.271G>C	1.37:g.1341194C>G	ENSP00000341082:p.Val91Leu					MRPL20_uc010nyn.1_Missense_Mutation_p.V91L	p.V91L	NM_017971	NP_060441	Q9BYC9	RM20_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	3	367	-	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	91					B2RE41|B7Z746	Missense_Mutation	SNP	ENST00000344843.7	37	c.271G>C	CCDS26.1	.	.	.	.	.	.	.	.	.	.	c	8.728	0.916040	0.17907	.	.	ENSG00000242485	ENST00000344843	.	.	.	4.52	-7.1	0.01547	.	0.788766	0.11849	N	0.523472	T	0.23926	0.0579	L	0.28344	0.845	0.09310	N	1	B;B	0.21381	0.055;0.0	B;B	0.26416	0.069;0.001	T	0.36890	-0.9729	9	0.10636	T	0.68	-0.974	13.2652	0.60128	0.1122:0.7084:0.0:0.1794	.	91;91	B7Z746;Q9BYC9	.;RM20_HUMAN	L	91	.	ENSP00000341082:V91L	V	-	1	0	MRPL20	1331057	0.000000	0.05858	0.009000	0.14445	0.004000	0.04260	-1.929000	0.01558	-1.383000	0.02106	-1.101000	0.02118	GTT		0.453	MRPL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008139.1	NM_017971		40	130	0	0	0	0	40	130				
SPEN	23013	broad.mit.edu	37	1	16261424	16261424	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:16261424C>G	ENST00000375759.3	+	11	8893	c.8689C>G	c.(8689-8691)Cct>Gct	p.P2897A		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2897					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 of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TAATGCCTCTCCTGTGATTTC	0.582																																						uc001axk.1		NA																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(8689-8691)CCT>GCT		spen homolog, transcriptional regulator							103.0	79.0	87.0					1																	16261424		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16261424C>G		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.8689C>G	1.37:g.16261424C>G	ENSP00000364912:p.Pro2897Ala					SPEN_uc010obp.1_Missense_Mutation_p.P2856A	p.P2897A	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	8893	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2897					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.8689C>G	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049620	0.36181	.	.	ENSG00000065526	ENST00000375759	T	0.14640	2.49	5.48	5.48	0.80851	.	.	.	.	.	T	0.36441	0.0967	M	0.69823	2.125	0.53005	D	0.999964	D	0.64830	0.994	D	0.68483	0.958	T	0.04017	-1.0984	9	0.59425	D	0.04	-15.4961	15.6913	0.77457	0.0:0.863:0.137:0.0	.	2897	Q96T58	MINT_HUMAN	A	2897	ENSP00000364912:P2897A	ENSP00000364912:P2897A	P	+	1	0	SPEN	16134011	0.994000	0.37717	0.955000	0.39395	0.774000	0.43823	2.887000	0.48586	2.562000	0.86427	0.561000	0.74099	CCT		0.582	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		9	42	0	0	0	0	9	42				
UBR4	23352	broad.mit.edu	37	1	19451151	19451151	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:19451151G>C	ENST00000375254.3	-	65	9499	c.9472C>G	c.(9472-9474)Cag>Gag	p.Q3158E	UBR4_ENST00000375267.2_Missense_Mutation_p.Q3158E|UBR4_ENST00000375217.2_Missense_Mutation_p.Q3151E|UBR4_ENST00000375226.2_Missense_Mutation_p.Q3134E	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3158					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTTAGAAGCTGAGTATAGGCC	0.428																																						uc001bbi.2		NA																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(9472-9474)CAG>GAG		retinoblastoma-associated factor 600							162.0	152.0	155.0					1																	19451151		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19451151G>C	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.9472C>G	1.37:g.19451151G>C	ENSP00000364403:p.Gln3158Glu					UBR4_uc001bbk.1_Missense_Mutation_p.Q805E	p.Q3158E	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	65	9476	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3158					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.9472C>G	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526246	0.64860	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.24350	1.86;1.86;1.89;1.89	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.36880	0.0983	L	0.38175	1.15	0.80722	D	1	P	0.40332	0.713	P	0.51806	0.68	T	0.00538	-1.1682	10	0.25106	T	0.35	.	20.239	0.98366	0.0:0.0:1.0:0.0	.	3158	Q5T4S7	UBR4_HUMAN	E	3158;3158;3151;3134;766;1844	ENSP00000364403:Q3158E;ENSP00000364416:Q3158E;ENSP00000364365:Q3151E;ENSP00000364374:Q3134E	ENSP00000364365:Q3151E	Q	-	1	0	UBR4	19323738	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.884000	0.98904	0.655000	0.94253	CAG		0.428	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		11	58	0	0	0	0	11	58				
UBR4	23352	broad.mit.edu	37	1	19453067	19453067	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:19453067G>C	ENST00000375254.3	-	64	9338	c.9311C>G	c.(9310-9312)tCa>tGa	p.S3104*	UBR4_ENST00000375267.2_Nonsense_Mutation_p.S3104*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.S3097*|UBR4_ENST00000375226.2_Nonsense_Mutation_p.S3080*	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3104					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTCCAGCAGTGATTTGAGCAC	0.537																																						uc001bbi.2		NA																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(9310-9312)TCA>TGA		retinoblastoma-associated factor 600							145.0	134.0	138.0					1																	19453067		2203	4300	6503	SO:0001587	stop_gained	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19453067G>C	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.9311C>G	1.37:g.19453067G>C	ENSP00000364403:p.Ser3104*					UBR4_uc001bbk.1_Nonsense_Mutation_p.S751*	p.S3104*	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	64	9315	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3104					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Nonsense_Mutation	SNP	ENST00000375254.3	37	c.9311C>G	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	45	11.630145	0.99584	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	.	.	.	5.84	5.84	0.93424	.	0.191306	0.47093	D	0.000255	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	19.7297	0.96177	0.0:0.0:1.0:0.0	.	.	.	.	X	3104;3104;3097;3080;712;1790	.	ENSP00000364365:S3097X	S	-	2	0	UBR4	19325654	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.209000	0.95087	2.765000	0.95021	0.655000	0.94253	TCA		0.537	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		39	124	0	0	0	0	39	124				
HTR6	3362	broad.mit.edu	37	1	19992627	19992627	+	Silent	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:19992627C>G	ENST00000289753.1	+	1	848	c.381C>G	c.(379-381)ctC>ctG	p.L127L		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	127					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	GCTACCTGCTCATCCTCTCGC	0.687																																					Esophageal Squamous(168;1879 2619 6848 21062)	uc001bcl.2		NA																	0				ovary(1)	1						c.(379-381)CTC>CTG		5-hydroxytryptamine (serotonin) receptor 6	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						74.0	64.0	67.0					1																	19992627		2203	4300	6503	SO:0001819	synonymous_variant	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:19992627C>G	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.381C>G	1.37:g.19992627C>G							p.L127L	NM_000871	NP_000862	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	1	848	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	127			Cytoplasmic (By similarity).		Q13640|Q5TGZ1	Silent	SNP	ENST00000289753.1	37	c.381C>G	CCDS197.1																																																																																				0.687	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		8	102	0	0	0	0	8	102				
CLIC4	25932	broad.mit.edu	37	1	25153552	25153552	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:25153552C>T	ENST00000374379.4	+	4	557	c.360C>T	c.(358-360)gaC>gaT	p.D120D	CLIC4_ENST00000497755.1_3'UTR	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	120	GST C-terminal.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|endothelial cell morphogenesis (GO:0001886)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|keratinocyte differentiation (GO:0030216)|multicellular organism growth (GO:0035264)|negative regulation of cell migration (GO:0030336)|regulation of cytoskeleton organization (GO:0051493)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|vacuolar acidification (GO:0007035)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|microvillus (GO:0005902)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		CTGGAATGGACATCTTTGCCA	0.333																																						uc001bjo.2		NA																	0					0						c.(358-360)GAC>GAT		chloride intracellular channel 4							100.0	107.0	105.0					1																	25153552		2203	4297	6500	SO:0001819	synonymous_variant	25932				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity	g.chr1:25153552C>T	AF097330	CCDS256.1	1p	2012-09-26			ENSG00000169504	ENSG00000169504		"""Ion channels / Chloride channels : Intracellular"""	13518	protein-coding gene	gene with protein product		606536				9139710, 10070163	Standard	NM_013943		Approved	DKFZP566G223, CLIC4L, P64H1, H1, huH1, p64H1	uc001bjo.2	Q9Y696	OTTHUMG00000003327	ENST00000374379.4:c.360C>T	1.37:g.25153552C>T						CLIC4_uc001bjn.2_RNA|CLIC4_uc001bjp.1_Silent_p.D100D	p.D120D	NM_013943	NP_039234	Q9Y696	CLIC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)	4	645	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	120			GST C-terminal.		Q9UFW9|Q9UQJ6	Silent	SNP	ENST00000374379.4	37	c.360C>T	CCDS256.1																																																																																				0.333	CLIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009332.1	NM_013943		16	143	0	0	0	0	16	143				
KIAA0319L	79932	broad.mit.edu	37	1	35917293	35917293	+	Silent	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:35917293G>T	ENST00000325722.3	-	13	2232	c.1998C>A	c.(1996-1998)acC>acA	p.T666T	KIAA0319L_ENST00000373266.4_Silent_p.T103T|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	666	PKD 4. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGACAGTCAAGGTGAACACAT	0.498											OREG0013354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001byx.2		NA																	0				skin(2)	2						c.(1996-1998)ACC>ACA		dyslexia susceptibility 2-like							179.0	166.0	171.0					1																	35917293		2203	4300	6503	SO:0001819	synonymous_variant	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35917293G>T	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.1998C>A	1.37:g.35917293G>T			OREG0013354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	859	KIAA0319L_uc001byw.2_Silent_p.T108T|KIAA0319L_uc010ohv.1_Silent_p.T308T	p.T666T	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN			13	2256	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	666			PKD 4.|Extracellular (Potential).		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Silent	SNP	ENST00000325722.3	37	c.1998C>A	CCDS390.1																																																																																				0.498	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		44	129	1	0	1.62e-30	2.24e-30	44	129				
AGO4	192670	broad.mit.edu	37	1	36291379	36291379	+	Silent	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:36291379G>T	ENST00000373210.3	+	5	833	c.588G>T	c.(586-588)gtG>gtT	p.V196V		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	196					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)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										ATCAGTCTGTGAGACCTGCCA	0.483																																						uc001bzj.1		NA																	0				ovary(1)	1						c.(586-588)GTG>GTT		eukaryotic translation initiation factor 2C, 4							200.0	202.0	201.0					1																	36291379		2203	4300	6503	SO:0001819	synonymous_variant	192670				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr1:36291379G>T	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.588G>T	1.37:g.36291379G>T							p.V196V	NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN			5	778	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	196					A7MD27	Silent	SNP	ENST00000373210.3	37	c.588G>T	CCDS397.1																																																																																				0.483	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629		42	132	1	0	1.32e-16	1.81e-16	42	132				
AGO3	192669	broad.mit.edu	37	1	36474571	36474571	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:36474571C>G	ENST00000373191.4	+	8	1304	c.955C>G	c.(955-957)Ctt>Gtt	p.L319V	RP4-665N4.8_ENST00000479395.2_RNA|AGO3_ENST00000246314.6_Missense_Mutation_p.L85V|RP4-665N4.8_ENST00000466576.2_RNA	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	319	PAZ. {ECO:0000255|HAMAP-Rule:MF_03032}.				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)										AAAGTATACTCTTCAGCTGAA	0.438																																						uc001bzp.2		NA																	0					0						c.(955-957)CTT>GTT		eukaryotic translation initiation factor 2C, 3							70.0	72.0	71.0					1																	36474571		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.chr1:36474571C>G	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.955C>G	1.37:g.36474571C>G	ENSP00000362287:p.Leu319Val					EIF2C3_uc001bzq.2_Missense_Mutation_p.L85V	p.L319V	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN			8	1211	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	319			PAZ.		B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	c.955C>G	CCDS399.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645406	0.67358	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.15017	2.46;2.46	5.58	5.58	0.84498	Argonaute/Dicer protein, PAZ (4);	0.000000	0.85682	D	0.000000	T	0.21267	0.0512	L	0.45470	1.425	0.80722	D	1	B	0.14012	0.009	B	0.22152	0.038	T	0.02015	-1.1229	10	0.42905	T	0.14	-47.6491	19.5743	0.95436	0.0:1.0:0.0:0.0	.	319	Q9H9G7	AGO3_HUMAN	V	319;85	ENSP00000362287:L319V;ENSP00000246314:L85V	ENSP00000246314:L85V	L	+	1	0	EIF2C3	36247158	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.611000	0.88343	0.655000	0.94253	CTT		0.438	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4	NM_024852		10	63	0	0	0	0	10	63				
GJA9	81025	broad.mit.edu	37	1	39340782	39340782	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:39340782G>C	ENST00000360786.3	-	1	1241	c.989C>G	c.(988-990)tCt>tGt	p.S330C	GJA9_ENST00000454994.2_Missense_Mutation_p.S330C|MYCBP_ENST00000397572.2_5'Flank|GJA9_ENST00000357771.3_Missense_Mutation_p.S330C|RP5-864K19.4_ENST00000433671.2_RNA|RP5-864K19.4_ENST00000456813.1_RNA|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000443161.1_RNA			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	330					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			AATCTCATTAGAAAGTACAGT	0.313																																						uc001cct.1		NA																	0					0						c.(988-990)TCT>TGT		gap junction protein, alpha 9, 59kDa							75.0	78.0	77.0					1																	39340782		2203	4300	6503	SO:0001583	missense	81025				cell communication	connexon complex|integral to membrane		g.chr1:39340782G>C	AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.989C>G	1.37:g.39340782G>C	ENSP00000354020:p.Ser330Cys					RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	p.S330C	NM_030772	NP_110399	P57773	CXA9_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		2	1270	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	330			Cytoplasmic (Potential).		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000360786.3	37	c.989C>G	CCDS432.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735808	0.49045	.	.	ENSG00000131233	ENST00000454994;ENST00000357771;ENST00000360786	D;D;D	0.98012	-4.66;-4.56;-4.56	4.02	3.1	0.35709	.	.	.	.	.	D	0.96324	0.8801	N	0.24115	0.695	0.23180	N	0.99816	D	0.69078	0.997	P	0.56865	0.808	D	0.91157	0.4958	9	0.62326	D	0.03	.	11.2015	0.48743	0.0943:0.0:0.9057:0.0	.	330	P57773	CXA9_HUMAN	C	330	ENSP00000406846:S330C;ENSP00000350415:S330C;ENSP00000354020:S330C	ENSP00000350415:S330C	S	-	2	0	GJA9	39113369	0.802000	0.28943	0.109000	0.21407	0.703000	0.40648	3.133000	0.50531	0.993000	0.38866	0.655000	0.94253	TCT		0.313	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1	NM_030772		21	48	0	0	0	0	21	48				
BMP8B	656	broad.mit.edu	37	1	40230448	40230448	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:40230448G>A	ENST00000372827.3	-	4	1090	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	BMP8B_ENST00000397360.2_Intron	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	239					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|growth (GO:0040007)|ossification (GO:0001503)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)				endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-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;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CGTGGGGCCCGTTGACCCAGC	0.657																																						uc001cdz.1		NA																	0					0						c.(715-717)CGG>TGG		bone morphogenetic protein 8B preproprotein																																				SO:0001583	missense	656				cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity	g.chr1:40230448G>A	BC023526	CCDS444.1	1p35-p32	2014-01-30	2008-05-22	2003-10-22	ENSG00000116985	ENSG00000116985		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1075	protein-coding gene	gene with protein product	"""osteogenic protein 2"""	602284	"""bone morphogenetic protein 8 (osteogenic protein 2)"""	BMP8		1460021, 9070944	Standard	NM_001720		Approved	OP-2	uc001cdz.1	P34820	OTTHUMG00000009247	ENST00000372827.3:c.715C>T	1.37:g.40230448G>A	ENSP00000361915:p.Arg239Trp					BMP8B_uc001cea.1_Intron	p.R239W	NM_001720	NP_001711	P34820	BMP8B_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		4	1091	-	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-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;0.0255)	239					E7EMY8|Q32NE5|Q53ZM7|Q9NUF0	Missense_Mutation	SNP	ENST00000372827.3	37	c.715C>T	CCDS444.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085980	0.36758	.	.	ENSG00000116985	ENST00000372827	T	0.69306	-0.39	4.37	3.44	0.39384	Transforming growth factor-beta, N-terminal (1);	0.515644	0.18927	U	0.127313	T	0.76637	0.4015	M	0.68593	2.085	0.32377	N	0.555066	D	0.76494	0.999	P	0.60345	0.873	T	0.82192	-0.0579	10	0.72032	D	0.01	.	13.5303	0.61617	0.0:0.0:0.8433:0.1567	.	239	P34820	BMP8B_HUMAN	W	239	ENSP00000361915:R239W	ENSP00000361915:R239W	R	-	1	2	BMP8B	40003035	0.013000	0.17824	0.001000	0.08648	0.137000	0.21094	1.883000	0.39658	1.030000	0.39839	0.558000	0.71614	CGG		0.657	BMP8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025641.1	NM_001720		8	103	0	0	0	0	8	103				
MFSD2A	84879	broad.mit.edu	37	1	40433512	40433512	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:40433512G>A	ENST00000372809.5	+	11	1314	c.1171G>A	c.(1171-1173)Gag>Aag	p.E391K	MFSD2A_ENST00000420632.2_Missense_Mutation_p.E222K|MFSD2A_ENST00000372811.5_Missense_Mutation_p.E378K|MFSD2A_ENST00000480630.1_3'UTR	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	391					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GGCCCTCATGGAGAGTAACCT	0.542																																						uc001cev.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1171-1173)GAG>AAG		major facilitator superfamily domain containing							118.0	108.0	112.0					1																	40433512		2203	4300	6503	SO:0001583	missense	84879				transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr1:40433512G>A	AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"""major facilitator superfamily domain containing 2"""	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.1171G>A	1.37:g.40433512G>A	ENSP00000361895:p.Glu391Lys					MFSD2A_uc010ojb.1_Missense_Mutation_p.E339K|MFSD2A_uc001ceu.2_Missense_Mutation_p.E378K|MFSD2A_uc010ojc.1_Missense_Mutation_p.E222K|MFSD2A_uc009vvy.2_Intron|MFSD2A_uc001cex.2_Missense_Mutation_p.E42K	p.E391K	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN			11	1352	+			391			Helical; (Potential).		A8K675|Q6UWU5|Q96F59|Q9BRC8	Missense_Mutation	SNP	ENST00000372809.5	37	c.1171G>A	CCDS44118.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801986	0.31869	.	.	ENSG00000168389	ENST00000372811;ENST00000420632;ENST00000372809	T;T;T	0.80566	-1.39;-1.39;-1.39	5.93	3.03	0.35002	Major facilitator superfamily domain, general substrate transporter (1);	0.496837	0.24695	N	0.036351	T	0.65709	0.2717	N	0.20685	0.6	0.31224	N	0.697157	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.10450	0.004;0.005;0.003	T	0.58059	-0.7703	10	0.23302	T	0.38	-7.2238	10.9602	0.47381	0.2047:0.0:0.7953:0.0	.	339;391;378	B4DNN7;Q8NA29;Q8NA29-2	.;MFS2A_HUMAN;.	K	378;222;391	ENSP00000361898:E378K;ENSP00000391261:E222K;ENSP00000361895:E391K	ENSP00000361895:E391K	E	+	1	0	MFSD2A	40206099	0.510000	0.26171	1.000000	0.80357	0.968000	0.65278	0.844000	0.27654	0.390000	0.25115	0.655000	0.94253	GAG		0.542	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793		11	69	0	0	0	0	11	69				
ZFP69B	65243	broad.mit.edu	37	1	40928626	40928626	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:40928626C>T	ENST00000411995.2	+	6	1345	c.970C>T	c.(970-972)Ccg>Tcg	p.P324S	RP1-228H13.5_ENST00000565390.1_RNA|ZFP69B_ENST00000361584.3_Missense_Mutation_p.P222S|ZFP69B_ENST00000484445.1_3'UTR	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	324					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)										ATCTCTTATTCCGCATCAGAG	0.403																																						uc001cfn.1		NA																	0				ovary(2)	2						c.(970-972)CCG>TCG		zinc finger protein 643							61.0	64.0	63.0					1																	40928626		2203	4300	6503	SO:0001583	missense	65243				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:40928626C>T	BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	28053	protein-coding gene	gene with protein product			"""zinc finger protein 643"""	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.970C>T	1.37:g.40928626C>T	ENSP00000399664:p.Pro324Ser					ZNF643_uc001cfl.1_Missense_Mutation_p.P222S|ZNF643_uc001cfm.1_Missense_Mutation_p.P190S	p.P324S	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)		5	1267	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	324			C2H2-type 2.		Q5QPL4	Missense_Mutation	SNP	ENST00000411995.2	37	c.970C>T	CCDS452.2	.	.	.	.	.	.	.	.	.	.	.	3.968	-0.008890	0.07727	.	.	ENSG00000187801	ENST00000431552;ENST00000411995;ENST00000361584	T;T	0.06933	3.24;5.66	3.13	-0.283	0.12874	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03305	0.0096	N	0.02111	-0.68	0.09310	N	1	P	0.35527	0.507	B	0.37550	0.253	T	0.48364	-0.9042	9	0.21014	T	0.42	.	9.96	0.41691	0.7062:0.2938:0.0:0.0	.	324	Q9UJL9	ZN643_HUMAN	S	255;324;222	ENSP00000399664:P324S;ENSP00000354547:P222S	ENSP00000354547:P222S	P	+	1	0	ZNF643	40701213	0.000000	0.05858	0.978000	0.43139	0.984000	0.73092	-2.871000	0.00720	-0.038000	0.13624	0.585000	0.79938	CCG		0.403	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019078.2	NM_023070		9	48	0	0	0	0	9	48				
TIE1	7075	broad.mit.edu	37	1	43778211	43778211	+	Silent	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:43778211C>G	ENST00000372476.3	+	12	1945	c.1866C>G	c.(1864-1866)ctC>ctG	p.L622L	TIE1_ENST00000433781.2_Silent_p.L267L	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	622	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L622L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATGTGCAGCTCTACCACTGCA	0.692																																						uc001ciu.2		NA																	1	Substitution - coding silent(1)	p.L622L(1)	lung(1)	lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7						c.(1864-1866)CTC>CTG		tyrosine kinase with immunoglobulin-like and							45.0	43.0	44.0					1																	43778211		2203	4300	6503	SO:0001819	synonymous_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43778211C>G	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1866C>G	1.37:g.43778211C>G						TIE1_uc010okd.1_Silent_p.L622L|TIE1_uc010oke.1_Silent_p.L577L|TIE1_uc009vwq.2_Silent_p.L578L|TIE1_uc010okf.1_Silent_p.L267L|TIE1_uc010okg.1_Silent_p.L267L	p.L622L	NM_005424	NP_005415	P35590	TIE1_HUMAN			12	1945	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	622			Fibronectin type-III 2.|Extracellular (Potential).		B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	c.1866C>G	CCDS482.1																																																																																				0.692	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		5	86	0	0	0	0	5	86				
ZSWIM5	57643	broad.mit.edu	37	1	45671764	45671764	+	Missense_Mutation	SNP	C	C	G	rs370878178		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:45671764C>G	ENST00000359600.5	-	1	464	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	ZSWIM5_ENST00000464588.1_Intron	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	87						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGGATCCGCTCGAAGCGCTCC	0.672																																						uc001cnd.2		NA																	0					0						c.(259-261)GAG>CAG		zinc finger, SWIM domain containing 5							18.0	19.0	19.0					1																	45671764		1941	4113	6054	SO:0001583	missense	57643						zinc ion binding	g.chr1:45671764C>G	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.259G>C	1.37:g.45671764C>G	ENSP00000352614:p.Glu87Gln						p.E87Q	NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN			1	487	-	Acute lymphoblastic leukemia(166;0.155)		87					Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	c.259G>C	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.490395	0.26686	.	.	ENSG00000162415	ENST00000359600	T	0.52526	0.66	1.9	0.898	0.19264	.	0.161948	0.38058	U	0.001830	T	0.26629	0.0651	N	0.25485	0.75	0.39382	D	0.966277	B	0.15719	0.014	B	0.06405	0.002	T	0.05954	-1.0854	10	0.17369	T	0.5	-4.4788	5.7983	0.18399	0.2152:0.5729:0.2119:0.0	.	87	Q9P217	ZSWM5_HUMAN	Q	87	ENSP00000352614:E87Q	ENSP00000352614:E87Q	E	-	1	0	ZSWIM5	45444351	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	1.378000	0.34328	0.349000	0.23975	0.442000	0.29010	GAG		0.672	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		11	36	0	0	0	0	11	36				
COA7	65260	broad.mit.edu	37	1	53153466	53153466	+	Missense_Mutation	SNP	C	C	T	rs141260822		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:53153466C>T	ENST00000371538.3	-	3	661	c.622G>A	c.(622-624)Gag>Aag	p.E208K	SELRC1_ENST00000486918.1_5'UTR	NM_023077.2	NP_075565.2														breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						TTTAGCACCTCGGCCTTGGCC	0.532																																						uc001cui.1		NA																	0					0						c.(622-624)GAG>AAG		hypothetical protein LOC65260							163.0	144.0	150.0					1																	53153466		2203	4300	6503	SO:0001583	missense	65260						binding	g.chr1:53153466C>T																												ENST00000371538.3:c.622G>A	1.37:g.53153466C>T	ENSP00000360593:p.Glu208Lys						p.E208K	NM_023077	NP_075565	Q96BR5	SELR1_HUMAN			3	662	-			208			Sel1-like 5.			Missense_Mutation	SNP	ENST00000371538.3	37	c.622G>A	CCDS570.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451180	0.84209	.	.	ENSG00000162377	ENST00000371538	T	0.50813	0.73	5.69	5.69	0.88448	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	L	0.33293	1	0.80722	D	1	D	0.58620	0.983	P	0.53809	0.735	T	0.28459	-1.0043	10	0.17832	T	0.49	-5.7734	19.8692	0.96843	0.0:1.0:0.0:0.0	.	208	Q96BR5	SELR1_HUMAN	K	208	ENSP00000360593:E208K	ENSP00000360593:E208K	E	-	1	0	SELRC1	52926054	1.000000	0.71417	0.921000	0.36526	0.660000	0.38997	5.691000	0.68249	2.714000	0.92807	0.549000	0.68633	GAG		0.532	SELRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023462.1			25	76	0	0	0	0	25	76				
SSX2IP	117178	broad.mit.edu	37	1	85127939	85127939	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:85127939G>A	ENST00000342203.3	-	8	1132	c.869C>T	c.(868-870)tCt>tTt	p.S290F	SSX2IP_ENST00000437941.2_Missense_Mutation_p.S263F|SSX2IP_ENST00000370612.4_Missense_Mutation_p.S290F|SSX2IP_ENST00000605755.1_Missense_Mutation_p.S263F|SSX2IP_ENST00000603677.1_Intron	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	290					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AGAAAGAAGAGAAATCATTTC	0.338																																						uc001dkh.2		NA																	0				ovary(2)	2						c.(868-870)TCT>TTT		synovial sarcoma, X breakpoint 2 interacting							163.0	182.0	176.0					1																	85127939		2203	4300	6503	SO:0001583	missense	117178				cell adhesion	nucleus|protein complex		g.chr1:85127939G>A		CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.869C>T	1.37:g.85127939G>A	ENSP00000340279:p.Ser290Phe					SSX2IP_uc001dkf.2_Missense_Mutation_p.S263F|SSX2IP_uc001dkg.2_RNA|SSX2IP_uc010orz.1_Missense_Mutation_p.S263F|SSX2IP_uc001dki.2_Missense_Mutation_p.S290F|SSX2IP_uc010osa.1_Missense_Mutation_p.S263F|SSX2IP_uc001dkj.2_Missense_Mutation_p.S290F|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.S286F	p.S290F	NM_014021	NP_054740	Q9Y2D8	ADIP_HUMAN		all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	9	1144	-			290			Potential.		A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	ENST00000342203.3	37	c.869C>T	CCDS699.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105334	0.77096	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000544699;ENST00000370612	T;T	0.50001	0.76;0.76	5.48	5.48	0.80851	.	0.048423	0.85682	D	0.000000	T	0.63343	0.2503	M	0.69823	2.125	0.49483	D	0.999797	D;D;D	0.71674	0.998;0.997;0.997	D;P;P	0.67725	0.953;0.898;0.898	T	0.66795	-0.5833	10	0.87932	D	0	-1.5178	19.3432	0.94352	0.0:0.0:1.0:0.0	.	286;290;263	F5H549;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	F	290;263;286;290	ENSP00000340279:S290F;ENSP00000412781:S263F	ENSP00000340279:S290F	S	-	2	0	SSX2IP	84900527	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.842000	0.62831	2.593000	0.87608	0.591000	0.81541	TCT		0.338	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	NM_014021		13	122	0	0	0	0	13	122				
ABCA4	24	broad.mit.edu	37	1	94512578	94512578	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:94512578C>G	ENST00000370225.3	-	19	2901	c.2815G>C	c.(2815-2817)Gag>Cag	p.E939Q	ABCA4_ENST00000535735.1_Missense_Mutation_p.E865Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	939	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCACAGGGCTCAAAAATCTTT	0.507																																						uc001dqh.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(2815-2817)GAG>CAG		ATP-binding cassette, sub-family A member 4							144.0	156.0	152.0					1																	94512578		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94512578C>G	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2815G>C	1.37:g.94512578C>G	ENSP00000359245:p.Glu939Gln					ABCA4_uc010otn.1_Missense_Mutation_p.E865Q	p.E939Q	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	19	2919	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	939			Cytoplasmic.|ABC transporter 1.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.2815G>C	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	7.551	0.662671	0.14645	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.91068	-2.71;-2.78	5.62	3.73	0.42828	ABC transporter-like (1);	0.374104	0.31784	N	0.007075	T	0.71609	0.3360	N	0.14661	0.345	0.22754	N	0.998778	P;B	0.37276	0.589;0.006	B;B	0.35813	0.211;0.022	T	0.67313	-0.5702	10	0.46703	T	0.11	.	12.6198	0.56597	0.0:0.8641:0.0:0.1359	.	865;939	F5H6E5;P78363	.;ABCA4_HUMAN	Q	939;865	ENSP00000359245:E939Q;ENSP00000437682:E865Q	ENSP00000359245:E939Q	E	-	1	0	ABCA4	94285166	0.046000	0.20272	1.000000	0.80357	0.054000	0.15201	0.704000	0.25661	1.386000	0.46466	0.655000	0.94253	GAG		0.507	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		15	236	0	0	0	0	15	236				
ABCD3	5825	broad.mit.edu	37	1	94955518	94955518	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:94955518G>C	ENST00000370214.4	+	15	1333	c.1309G>C	c.(1309-1311)Gat>Cat	p.D437H	ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000454898.2_Missense_Mutation_p.D461H|ABCD3_ENST00000536817.1_Missense_Mutation_p.D364H|ABCD3_ENST00000394233.2_Missense_Mutation_p.D327H	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	437					ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		CATTATTGCAGATAACATTAT	0.323																																						uc001dqn.3		NA																	0				skin(1)	1						c.(1309-1311)GAT>CAT		ATP-binding cassette, sub-family D, member 3							109.0	106.0	107.0					1																	94955518		2203	4299	6502	SO:0001583	missense	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94955518G>C	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1309G>C	1.37:g.94955518G>C	ENSP00000359233:p.Asp437His					ABCD3_uc010oto.1_Missense_Mutation_p.D461H|ABCD3_uc010otp.1_Missense_Mutation_p.D364H|ABCD3_uc009wdr.2_Missense_Mutation_p.D327H|ABCD3_uc001dqo.3_Missense_Mutation_p.D125H	p.D437H	NM_002858	NP_002849	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	15	1411	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	437					D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	ENST00000370214.4	37	c.1309G>C	CCDS749.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631366	0.87660	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.99891	0.9948	M	0.85710	2.77	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.977;0.999;0.977	D	0.96838	0.9616	10	0.87932	D	0	-25.2976	20.4581	0.99154	0.0:0.0:1.0:0.0	.	461;327;437	E7EUE1;P28288-2;P28288	.;.;ABCD3_HUMAN	H	327;461;364;437	ENSP00000377780:D327H;ENSP00000403357:D461H;ENSP00000440692:D364H;ENSP00000359233:D437H	ENSP00000359233:D437H	D	+	1	0	ABCD3	94728106	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	9.156000	0.94705	2.835000	0.97688	0.650000	0.86243	GAT		0.323	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858		14	88	0	0	0	0	14	88				
KCNC4	3749	broad.mit.edu	37	1	110754320	110754320	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:110754320G>A	ENST00000369787.3	+	1	226	c.199G>A	c.(199-201)Gac>Aac	p.D67N	KCNC4_ENST00000413138.3_Missense_Mutation_p.D67N|KCNC4_ENST00000438661.2_Missense_Mutation_p.D67N|KCNC4-AS1_ENST00000455967.1_RNA	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	67					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTGGCTGGCCGACCCCGACGG	0.721																																						uc001dzh.2		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(199-201)GAC>AAC		Shaw-related voltage-gated potassium channel							13.0	16.0	15.0					1																	110754320		2183	4277	6460	SO:0001583	missense	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110754320G>A	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.199G>A	1.37:g.110754320G>A	ENSP00000358802:p.Asp67Asn					KCNC4_uc001dzf.2_Missense_Mutation_p.D67N|KCNC4_uc009wfr.2_Missense_Mutation_p.D67N|KCNC4_uc001dzg.2_Missense_Mutation_p.D67N|KCNC4_uc001dzi.2_RNA	p.D67N	NM_004978	NP_004969	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	256	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	67			Cytoplasmic (Potential).		Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	c.199G>A	CCDS821.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420971	0.83559	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	T;T;T	0.76316	-1.01;-1.01;-1.01	4.15	4.15	0.48705	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.126870	0.50627	U	0.000102	T	0.60143	0.2246	L	0.33245	0.995	0.80722	D	1	P;P;P	0.49783	0.591;0.536;0.928	B;B;B	0.42030	0.179;0.112;0.373	T	0.67043	-0.5770	10	0.49607	T	0.09	.	16.0484	0.80735	0.0:0.0:1.0:0.0	.	67;67;67	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	N	67	ENSP00000358802:D67N;ENSP00000388029:D67N;ENSP00000393655:D67N	ENSP00000358802:D67N	D	+	1	0	KCNC4	110555843	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	9.443000	0.97568	1.871000	0.54225	0.561000	0.74099	GAC		0.721	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		6	25	0	0	0	0	6	25				
KCND3	3752	broad.mit.edu	37	1	112524371	112524371	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:112524371G>A	ENST00000315987.2	-	2	1457	c.978C>T	c.(976-978)ttC>ttT	p.F326F	KCND3_ENST00000369697.1_Silent_p.F326F|KCND3_ENST00000302127.4_Silent_p.F326F	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	326					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TGGTGAGGGAGAAGAGAAGAA	0.552																																						uc001ebu.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(976-978)TTC>TTT		potassium voltage-gated channel, Shal-related							111.0	107.0	108.0					1																	112524371		2203	4300	6503	SO:0001819	synonymous_variant	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112524371G>A	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.978C>T	1.37:g.112524371G>A						KCND3_uc001ebv.1_Silent_p.F326F	p.F326F	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	2	1458	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	326			Helical; Name=Segment S5; (Potential).		O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Silent	SNP	ENST00000315987.2	37	c.978C>T	CCDS843.1																																																																																				0.552	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		9	47	0	0	0	0	9	47				
AP4B1	10717	broad.mit.edu	37	1	114442908	114442908	+	Silent	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:114442908G>C	ENST00000369569.1	-	5	1012	c.732C>G	c.(730-732)ctC>ctG	p.L244L	AP4B1_ENST00000462591.1_5'Flank|AP4B1_ENST00000369567.1_Silent_p.L76L|AP4B1_ENST00000369566.3_Silent_p.L151L|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Silent_p.L244L	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	244					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-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)		TACTGCTCTTGAGGAAACTAT	0.473																																						uc001eeb.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(730-732)CTC>CTG		adaptor-related protein complex 4, beta 1							95.0	90.0	91.0					1																	114442908		2203	4300	6503	SO:0001819	synonymous_variant	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114442908G>C	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.732C>G	1.37:g.114442908G>C						uc001edv.1_RNA|AP4B1_uc001eec.2_Silent_p.L76L|AP4B1_uc001eed.2_Silent_p.L244L|AP4B1_uc010owp.1_Silent_p.L145L|AP4B1_uc001eea.1_Silent_p.L38L|AP4B1_uc010owq.1_Silent_p.L151L	p.L244L	NM_006594	NP_006585	Q9Y6B7	AP4B1_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)	5	875	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	244					B7Z4X3|Q59EJ4|Q96CL6	Silent	SNP	ENST00000369569.1	37	c.732C>G	CCDS865.1																																																																																				0.473	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		5	56	0	0	0	0	5	56				
FAM46C	54855	broad.mit.edu	37	1	118166279	118166279	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:118166279C>G	ENST00000369448.3	+	2	1036	c.789C>G	c.(787-789)atC>atG	p.I263M		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	263										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		AGGAAGAAATCAAAACTCTAG	0.507			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)																												uc001ehe.2		NA		Rec	yes		1	1p12	54855		"""family with sequence similarity 46, member C"""			L					0					0						c.(787-789)ATC>ATG		hypothetical protein LOC54855							59.0	64.0	63.0					1																	118166279		2203	4300	6503	SO:0001583	missense	54855							g.chr1:118166279C>G	BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.789C>G	1.37:g.118166279C>G	ENSP00000358458:p.Ile263Met	Multiple Myeloma(3;1.13e-06)					p.I263M	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)	2	988	+	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)	263					A3KMG2|Q8NE25|Q9NXK0	Missense_Mutation	SNP	ENST00000369448.3	37	c.789C>G	CCDS896.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006164	0.35415	.	.	ENSG00000183508	ENST00000369448	T	0.24908	1.83	5.85	5.85	0.93711	Domain of unknown function DUF1693 (1);	1.893940	0.03508	N	0.219088	T	0.22360	0.0539	L	0.31157	0.91	0.58432	D	0.999995	P	0.44946	0.846	P	0.47528	0.549	T	0.26292	-1.0107	10	0.30854	T	0.27	-19.2045	19.1393	0.93441	0.0:1.0:0.0:0.0	.	263	Q5VWP2	FA46C_HUMAN	M	263	ENSP00000358458:I263M	ENSP00000358458:I263M	I	+	3	3	FAM46C	117967802	1.000000	0.71417	0.999000	0.59377	0.420000	0.31355	1.690000	0.37711	2.766000	0.95052	0.655000	0.94253	ATC		0.507	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038424.1	NM_017709		14	38	0	0	0	0	14	38				
PDE4DIP	9659	broad.mit.edu	37	1	144952223	144952223	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:144952223C>T	ENST00000369354.3	-	4	685	c.496G>A	c.(496-498)Gag>Aag	p.E166K	PDE4DIP_ENST00000369348.3_Missense_Mutation_p.E303K|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E303K|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E303K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E166K|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.E166K|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E232K|PDE4DIP_ENST00000369347.4_Missense_Mutation_p.E166K|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.E166K			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	166					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)		GCCAGGGCCTCAGTGTATTGG	0.522			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.(496-498)GAG>AAG		phosphodiesterase 4D interacting protein isoform							122.0	131.0	128.0					1																	144952223		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144952223C>T	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.496G>A	1.37:g.144952223C>T	ENSP00000358360:p.Glu166Lys					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.E232K|PDE4DIP_uc001emc.1_Missense_Mutation_p.E166K|PDE4DIP_uc001emd.1_Missense_Mutation_p.E166K|PDE4DIP_uc001emg.1_Missense_Mutation_p.E166K|PDE4DIP_uc001emh.2_Missense_Mutation_p.E303K	p.E166K	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	4	787	-			166			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.496G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.826105	0.32237	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000530078;ENST00000534536;ENST00000369347;ENST00000369348	T;T;T;T;T;T;T;T;T;T	0.21361	4.72;4.85;4.85;4.82;4.82;3.84;3.85;2.01;2.01;3.03	4.53	3.59	0.41128	.	.	.	.	.	T	0.12433	0.0302	L	0.47716	1.5	0.24195	N	0.995535	P;P;B	0.50528	0.936;0.683;0.339	P;B;B	0.48425	0.577;0.225;0.11	T	0.07868	-1.0750	9	0.51188	T	0.08	.	7.1329	0.25512	0.0:0.7991:0.0:0.2009	.	166;232;166	Q5VU43-7;Q5VU43-3;Q5VU43	.;.;MYOME_HUMAN	K	232;166;166;303;303;166;166;232;169;166;303	ENSP00000327209:E232K;ENSP00000358360:E166K;ENSP00000358363:E166K;ENSP00000435654:E303K;ENSP00000358366:E303K;ENSP00000358357:E166K;ENSP00000358355:E166K;ENSP00000435920:E169K;ENSP00000358353:E166K;ENSP00000358354:E303K	ENSP00000327209:E232K	E	-	1	0	PDE4DIP	143663580	0.351000	0.24887	0.901000	0.35422	0.406000	0.30931	2.089000	0.41672	2.339000	0.79563	0.555000	0.69702	GAG		0.522	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		15	157	0	0	0	0	15	157				
RPRD2	23248	broad.mit.edu	37	1	150437148	150437148	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:150437148G>C	ENST00000369068.4	+	10	1561	c.1557G>C	c.(1555-1557)gaG>gaC	p.E519D	RPRD2_ENST00000539519.1_Missense_Mutation_p.E493D|RPRD2_ENST00000401000.4_Missense_Mutation_p.E493D|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	519	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCACCCCAGAGAGCATTCTGT	0.517											OREG0013786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009wlr.2		NA																	0				ovary(1)	1						c.(1555-1557)GAG>GAC		Regulation of nuclear pre-mRNA domain containing							86.0	95.0	92.0					1																	150437148		2022	4182	6204	SO:0001583	missense	23248						protein binding	g.chr1:150437148G>C	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.1557G>C	1.37:g.150437148G>C	ENSP00000358064:p.Glu519Asp		OREG0013786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1732	RPRD2_uc010pcc.1_Missense_Mutation_p.E493D|RPRD2_uc001eup.3_Missense_Mutation_p.E493D	p.E519D	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN			10	1758	+			519			Ser-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.1557G>C	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207736	0.79240	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.51325	0.72;0.74;0.71	5.34	5.34	0.76211	.	0.115441	0.64402	D	0.000019	T	0.52386	0.1731	L	0.59436	1.845	0.40265	D	0.978222	D;D;D	0.71674	0.99;0.996;0.998	P;D;D	0.71184	0.824;0.938;0.972	T	0.55173	-0.8182	10	0.54805	T	0.06	-16.6845	9.3119	0.37910	0.1599:0.0:0.8401:0.0	.	493;519;493	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	D	493;493;519	ENSP00000383785:E493D;ENSP00000445482:E493D;ENSP00000358064:E519D	ENSP00000358064:E519D	E	+	3	2	RPRD2	148703772	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.756000	0.38390	2.785000	0.95823	0.655000	0.94253	GAG		0.517	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		7	19	0	0	0	0	7	19				
GOLPH3L	55204	broad.mit.edu	37	1	150636160	150636160	+	Missense_Mutation	SNP	C	C	T	rs150623963		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:150636160C>T	ENST00000271732.3	-	3	307	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	GOLPH3L_ENST00000540514.1_Intron	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	88					Golgi organization (GO:0007030)|positive regulation of protein secretion (GO:0050714)	Golgi membrane (GO:0000139)|trans-Golgi network membrane (GO:0032588)	phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CAGATAGATTCGACCCCGCAT	0.502																																						uc001evj.2		NA																	0				ovary(1)	1						c.(262-264)CGA>CAA		Golgi phosphoprotein 3-like		C	GLN/ARG	0,4406		0,0,2203	99.0	94.0	96.0		263	5.5	0.9	1	dbSNP_134	96	4,8596	3.7+/-12.6	0,4,4296	no	missense	GOLPH3L	NM_018178.5	43	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	88/286	150636160	4,13002	2203	4300	6503	SO:0001583	missense	55204					Golgi cisterna membrane		g.chr1:150636160C>T	AJ296153	CCDS966.1	1q21	2008-02-05			ENSG00000143457	ENSG00000143457			24882	protein-coding gene	gene with protein product		612208					Standard	NM_018178		Approved	GPP34R	uc001evj.2	Q9H4A5	OTTHUMG00000035009	ENST00000271732.3:c.263G>A	1.37:g.150636160C>T	ENSP00000271732:p.Arg88Gln					GOLPH3L_uc010pci.1_Intron	p.R88Q	NM_018178	NP_060648	Q9H4A5	GLP3L_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		3	480	-	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		88					B1AN09|B7Z6N3|Q9NVK0	Missense_Mutation	SNP	ENST00000271732.3	37	c.263G>A	CCDS966.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298648	0.81025	0.0	4.65E-4	ENSG00000143457	ENST00000271732;ENST00000369003;ENST00000427665	.	.	.	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000009	D	0.84995	0.5596	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.88585	0.3139	9	0.87932	D	0	-8.6467	17.9745	0.89123	0.0:1.0:0.0:0.0	.	88	Q9H4A5	GLP3L_HUMAN	Q	88;110;110	.	ENSP00000271732:R88Q	R	-	2	0	GOLPH3L	148902784	0.985000	0.35326	0.915000	0.36163	0.002000	0.02628	7.359000	0.79477	2.588000	0.87417	0.585000	0.79938	CGA		0.502	GOLPH3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084734.1	NM_018178		23	61	0	0	0	0	23	61				
FLG	2312	broad.mit.edu	37	1	152277823	152277823	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:152277823G>A	ENST00000368799.1	-	3	9574	c.9539C>T	c.(9538-9540)tCa>tTa	p.S3180L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3180	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)			ATGGTGACGTGACACTGAGTG	0.562									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(9538-9540)TCA>TTA		filaggrin							292.0	283.0	286.0					1																	152277823		2198	4292	6490	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.chr1:152277823G>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.9539C>T	1.37:g.152277823G>A	ENSP00000357789:p.Ser3180Leu						p.S3180L	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9575	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3180			Filaggrin 19.|Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9539C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	9.284	1.048952	0.19827	.	.	ENSG00000143631	ENST00000368799	T	0.05925	3.37	1.6	1.6	0.23607	.	.	.	.	.	T	0.09291	0.0229	M	0.79123	2.44	0.09310	N	1	D	0.69078	0.997	D	0.71870	0.975	T	0.16689	-1.0394	9	0.30078	T	0.28	.	6.6076	0.22734	0.0:0.0:1.0:0.0	.	3180	P20930	FILA_HUMAN	L	3180	ENSP00000357789:S3180L	ENSP00000357789:S3180L	S	-	2	0	FLG	150544447	0.001000	0.12720	0.009000	0.14445	0.020000	0.10135	0.133000	0.15912	0.874000	0.35823	0.449000	0.29647	TCA		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		100	139	0	0	0	0	100	139				
FLG2	388698	broad.mit.edu	37	1	152327869	152327870	+	Missense_Mutation	DNP	CC	CC	AT	rs372187065		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:152327869_152327870CC>AT	ENST00000388718.5	-	3	2464_2465	c.2392_2393GG>AT	c.(2392-2394)GGg>ATg	p.G798M	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	798	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGCCTGACCCATGTTGTCCA	0.52																																						uc001ezw.3		NA																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(2392-2394)GGG>ATG		filaggrin family member 2																																				SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152327869_152327870CC>AT	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2392_2393delinsAT	1.37:g.152327869_152327870delinsAT	ENSP00000373370:p.Gly798Met					uc001ezv.2_Intron	p.G798M	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2465_2466	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		798			Ser-rich.		Q9H4U1	Missense_Mutation	DNP	ENST00000388718.5	37	c.2392_2393GG>AT	CCDS30861.1																																																																																				0.520	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		43	409	0	0	0	0	43	409				
CLK2	1196	broad.mit.edu	37	1	155238104	155238104	+	Silent	SNP	T	T	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:155238104T>C	ENST00000368361.4	-	5	849	c.534A>G	c.(532-534)gtA>gtG	p.V178V	CLK2_ENST00000355560.4_Silent_p.V176V|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Silent_p.V177V|CLK2_ENST00000536801.1_Silent_p.V178V			P49760	CLK2_HUMAN	CDC-like kinase 2	178	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAACACATTGTACAACTCGGC	0.502								Other conserved DNA damage response genes																														uc001fjy.2		NA																	0					0						c.(532-534)GTA>GTG	Other_conserved_DNA_damage_response_genes	CDC-like kinase 2							72.0	68.0	69.0					1																	155238104		2203	4300	6503	SO:0001819	synonymous_variant	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155238104T>C	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.534A>G	1.37:g.155238104T>C						RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Silent_p.V177V|CLK2_uc001fjx.2_5'UTR|CLK2_uc009wqm.2_Silent_p.V178V	p.V178V	NM_003993	NP_003984	P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		5	824	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		178			Protein kinase.		B1AVS9|B5MBX6|Q96CQ0	Silent	SNP	ENST00000368361.4	37	c.534A>G																																																																																					0.502	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		15	51	0	0	0	0	15	51				
RUSC1	23623	broad.mit.edu	37	1	155292421	155292421	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:155292421C>G	ENST00000368352.5	+	2	1008	c.857C>G	c.(856-858)tCt>tGt	p.S286C	RUSC1_ENST00000368347.4_5'Flank|RUSC1_ENST00000292254.4_5'Flank|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368354.3_Missense_Mutation_p.S286C|RUSC1_ENST00000368349.4_5'Flank	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	286					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			ATAACTGATTCTGGCTCGAAA	0.478																																						uc001fkj.2		NA																	0				ovary(2)	2						c.(856-858)TCT>TGT		RUN and SH3 domain containing 1 isoform a							135.0	138.0	137.0					1																	155292421		1932	4132	6064	SO:0001583	missense	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155292421C>G	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.857C>G	1.37:g.155292421C>G	ENSP00000357336:p.Ser286Cys					RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.S286C|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank|RUSC1_uc001fks.2_5'Flank	p.S286C	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		2	1086	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		286					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	c.857C>G	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.733336	0.30684	.	.	ENSG00000160753	ENST00000368354;ENST00000368352	T;T	0.48522	0.81;0.81	4.95	4.0	0.46444	.	0.355196	0.20600	N	0.089161	T	0.12561	0.0305	N	0.14661	0.345	0.21802	N	0.999532	P	0.40000	0.698	B	0.37198	0.243	T	0.02909	-1.1095	10	0.52906	T	0.07	-0.1711	6.7037	0.23238	0.0:0.72:0.1831:0.0969	.	286	Q9BVN2	RUSC1_HUMAN	C	286	ENSP00000357338:S286C;ENSP00000357336:S286C	ENSP00000357336:S286C	S	+	2	0	RUSC1	153559045	0.933000	0.31639	0.052000	0.19188	0.962000	0.63368	-0.299000	0.08254	1.009000	0.39289	0.484000	0.47621	TCT		0.478	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			36	120	0	0	0	0	36	120				
DAP3	7818	broad.mit.edu	37	1	155699156	155699156	+	Splice_Site	SNP	C	C	G	rs375689451		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:155699156C>G	ENST00000368336.5	+	9	966	c.842C>G	c.(841-843)cCg>cGg	p.P281R	DAP3_ENST00000421487.2_Splice_Site_p.P247R|DAP3_ENST00000343043.3_Splice_Site_p.P281R|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000471642.2_Splice_Site_p.P240R|DAP3_ENST00000535183.1_Splice_Site_p.P240R|MSTO1_ENST00000452804.2_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	281					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GATAAAAGCCCGGTAGGAAAA	0.438																																						uc001flq.2		NA																	0				ovary(1)	1						c.(841-843)CCG>CGG		death-associated protein 3		C	ARG/PRO,ARG/PRO,ARG/PRO,ARG/PRO,ARG/PRO	1,4405	2.1+/-5.4	0,1,2202	50.0	56.0	54.0		842,740,719,842,842	-3.0	0.4	1		54	0,8600		0,0,4300	no	missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	DAP3	NM_001199849.1,NM_001199850.1,NM_001199851.1,NM_004632.3,NM_033657.2	103,103,103,103,103	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	281/399,247/365,240/358,281/399,281/399	155699156	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	7818				induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding	g.chr1:155699156C>G	X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.843+1C>G	1.37:g.155699156C>G						DAP3_uc001flr.2_Missense_Mutation_p.P281R|DAP3_uc001fls.2_Missense_Mutation_p.P281R|DAP3_uc010pgl.1_Missense_Mutation_p.P240R|DAP3_uc001flt.2_Missense_Mutation_p.P247R|DAP3_uc001flu.2_Missense_Mutation_p.P254R|DAP3_uc010pgm.1_Missense_Mutation_p.P247R	p.P281R	NM_033657	NP_387506	P51398	RT29_HUMAN			9	1011	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		281					B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Missense_Mutation	SNP	ENST00000368336.5	37	c.842C>G	CCDS1120.1	.	.	.	.	.	.	.	.	.	.	C	5.523	0.281350	0.10458	2.27E-4	0.0	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487;ENST00000535183	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.51	-3.05	0.05396	.	0.816992	0.11626	N	0.545267	T	0.11580	0.0282	N	0.03324	-0.35	0.09310	N	0.999999	P;P;P;P	0.39696	0.558;0.683;0.683;0.683	B;P;P;P	0.50314	0.363;0.637;0.637;0.637	T	0.19418	-1.0306	10	0.51188	T	0.08	-1.015	5.5039	0.16844	0.2178:0.2952:0.0:0.4869	.	240;247;247;281	B4DP59;B4DY62;E7EM60;P51398	.;.;.;RT29_HUMAN	R	281;281;247;240	ENSP00000357320:P281R;ENSP00000341692:P281R;ENSP00000412605:P247R;ENSP00000445003:P240R	ENSP00000341692:P281R	P	+	2	0	DAP3	153965780	0.000000	0.05858	0.355000	0.25773	0.368000	0.29767	-1.203000	0.03019	-0.385000	0.07833	-0.484000	0.04775	CCG		0.438	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1	NM_004632	Missense_Mutation	18	59	0	0	0	0	18	59				
HSPA6	3310	broad.mit.edu	37	1	161494658	161494658	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:161494658C>G	ENST00000309758.4	+	1	623	c.210C>G	c.(208-210)ttC>ttG	p.F70L	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	70					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACACCGTGTTCGATGCCAAGC	0.687																																						uc001gap.2		NA																	0				skin(1)	1						c.(208-210)TTC>TTG		heat shock 70kDa protein 6 (HSP70B')							11.0	12.0	11.0					1																	161494658		2133	4165	6298	SO:0001583	missense	3310				response to unfolded protein		ATP binding	g.chr1:161494658C>G		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.210C>G	1.37:g.161494658C>G	ENSP00000310219:p.Phe70Leu					HSPA6_uc001gaq.2_Missense_Mutation_p.F70L	p.F70L	NM_002155	NP_002146	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	870	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		70					Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	37	c.210C>G	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	12.12	1.843863	0.32606	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.03772	3.81	3.63	0.499	0.16914	.	0.000000	0.45606	U	0.000355	T	0.12944	0.0314	H	0.97829	4.085	0.38479	D	0.947667	D	0.57571	0.98	P	0.59056	0.851	T	0.00367	-1.1785	9	0.72032	D	0.01	-28.1206	3.7679	0.08630	0.0:0.4817:0.1895:0.3288	.	70	P17066	HSP76_HUMAN	L	70;46	ENSP00000310219:F70L	ENSP00000310219:F70L	F	+	3	2	HSPA6	159761282	0.930000	0.31532	0.698000	0.30274	0.017000	0.09413	-0.055000	0.11807	0.207000	0.20607	-0.235000	0.12190	TTC		0.687	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		8	28	0	0	0	0	8	28				
POGK	57645	broad.mit.edu	37	1	166819358	166819358	+	Silent	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:166819358G>C	ENST00000367875.1	+	5	1902	c.1542G>C	c.(1540-1542)ctG>ctC	p.L514L	POGK_ENST00000536514.1_Silent_p.L429L|POGK_ENST00000537173.1_Silent_p.L396L|POGK_ENST00000367876.4_Silent_p.L514L			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	514	DDE.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						acaagccactgaatgacagtg	0.567																																					GBM(76;192 1530 30153 48742)	uc001gdt.1		NA																	0				ovary(1)	1						c.(1540-1542)CTG>CTC		pogo transposable element with KRAB domain							34.0	29.0	31.0					1																	166819358		2202	4300	6502	SO:0001819	synonymous_variant	57645				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr1:166819358G>C	AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"""-"""	18800	protein-coding gene	gene with protein product	"""KRAB box domain containing 2"""						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.1542G>C	1.37:g.166819358G>C						POGK_uc010ple.1_Silent_p.L429L|POGK_uc010plf.1_Silent_p.L396L	p.L514L	NM_017542	NP_060012	Q9P215	POGK_HUMAN			5	1662	+			514			DDE.		Q5TIJ1|Q8TE07	Silent	SNP	ENST00000367875.1	37	c.1542G>C	CCDS1254.1																																																																																				0.567	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1	NM_017542		4	12	0	0	0	0	4	12				
TNN	63923	broad.mit.edu	37	1	175046766	175046766	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:175046766C>T	ENST00000239462.4	+	2	325	c.212C>T	c.(211-213)tCg>tTg	p.S71L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	71					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GATGGGGCTTCGCTCTTGGCC	0.587																																						uc001gkl.1		NA																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(211-213)TCG>TTG		tenascin N precursor							67.0	49.0	55.0					1																	175046766		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175046766C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.212C>T	1.37:g.175046766C>T	ENSP00000239462:p.Ser71Leu					TNN_uc010pmx.1_Missense_Mutation_p.S71L	p.S71L	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	2	325	+		Breast(1374;0.000962)	71					B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.212C>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	4.058	0.008497	0.07912	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.26373	1.74	5.51	4.55	0.56014	.	0.569373	0.16993	N	0.191211	T	0.21307	0.0513	L	0.40543	1.245	0.09310	N	1	B;B	0.18166	0.026;0.008	B;B	0.10450	0.002;0.005	T	0.06041	-1.0849	10	0.39692	T	0.17	.	10.8319	0.46665	0.0:0.7721:0.1465:0.0813	.	71;71	B3KXB6;Q9UQP3	.;TENN_HUMAN	L	71	ENSP00000239462:S71L	ENSP00000239462:S71L	S	+	2	0	TNN	173313389	0.000000	0.05858	0.068000	0.19968	0.031000	0.12232	0.654000	0.24918	2.600000	0.87896	0.655000	0.94253	TCG		0.587	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		10	33	0	0	0	0	10	33				
COLGALT2	23127	broad.mit.edu	37	1	184006371	184006371	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:184006371C>T	ENST00000361927.4	-	1	492	c.121G>A	c.(121-123)Gag>Aag	p.E41K	COLGALT2_ENST00000546159.1_Missense_Mutation_p.E41K	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	41					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										ACCACCGGCTCCTCTCCGTCG	0.721																																						uc001gqr.2		NA																	0				ovary(1)|breast(1)	2						c.(121-123)GAG>AAG		glycosyltransferase 25 domain containing 2							9.0	11.0	10.0					1																	184006371		2153	4252	6405	SO:0001583	missense	23127				lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity	g.chr1:184006371C>T	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.121G>A	1.37:g.184006371C>T	ENSP00000354960:p.Glu41Lys					GLT25D2_uc010poj.1_Missense_Mutation_p.E41K|GLT25D2_uc001gqs.2_Intron	p.E41K	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN			1	493	-			41					O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	c.121G>A	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729134	0.48833	.	.	ENSG00000198756	ENST00000546159;ENST00000361927	T;T	0.77489	-1.1;-1.09	3.92	3.92	0.45320	.	0.465891	0.17754	U	0.163121	T	0.55481	0.1923	N	0.08118	0	0.09310	N	1	P;B	0.36909	0.573;0.437	B;B	0.30401	0.115;0.054	T	0.53906	-0.8372	10	0.54805	T	0.06	.	10.2901	0.43590	0.0:0.7791:0.2209:0.0	.	41;41	F5H3T5;Q8IYK4	.;GT252_HUMAN	K	41	ENSP00000439112:E41K;ENSP00000354960:E41K	ENSP00000354960:E41K	E	-	1	0	GLT25D2	182272994	0.005000	0.15991	0.011000	0.14972	0.802000	0.45316	1.700000	0.37815	1.889000	0.54706	0.462000	0.41574	GAG		0.721	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		4	14	0	0	0	0	4	14				
KCNT2	343450	broad.mit.edu	37	1	196309572	196309572	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:196309572G>T	ENST00000294725.9	-	16	2597	c.1682C>A	c.(1681-1683)tCa>tAa	p.S561*	KCNT2_ENST00000609185.1_Nonsense_Mutation_p.S511*|KCNT2_ENST00000451324.2_Nonsense_Mutation_p.S172*|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.S511*|KCNT2_ENST00000367433.5_Nonsense_Mutation_p.S561*|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	561					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.S561L(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTAAATGCTGAATTCTCTTC	0.358																																						uc001gtd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)|skin(1)	7						c.(1681-1683)TCA>TAA		potassium channel, subfamily T, member 2							104.0	99.0	101.0					1																	196309572		2203	4300	6503	SO:0001587	stop_gained	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196309572G>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1682C>A	1.37:g.196309572G>T	ENSP00000294725:p.Ser561*					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Nonsense_Mutation_p.S511*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.S561*|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Nonsense_Mutation_p.S561*|KCNT2_uc001gth.1_Nonsense_Mutation_p.S82*	p.S561*	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			16	1742	-			561			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Nonsense_Mutation	SNP	ENST00000294725.9	37	c.1682C>A	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	37	6.320501	0.97471	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	.	.	.	5.84	5.84	0.93424	.	0.000000	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.3671	20.13	0.97997	0.0:0.0:1.0:0.0	.	.	.	.	X	561;511;382;172;561	.	ENSP00000294725:S561X	S	-	2	0	KCNT2	194576195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.806000	0.99153	2.751000	0.94390	0.650000	0.86243	TCA		0.358	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		8	37	1	0	3.1e-07	4.13e-07	8	37				
LGR6	59352	broad.mit.edu	37	1	202245595	202245595	+	Missense_Mutation	SNP	G	G	A	rs142083498		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:202245595G>A	ENST00000367278.3	+	5	679	c.590G>A	c.(589-591)cGc>cAc	p.R197H	LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Intron|LGR6_ENST00000255432.7_Missense_Mutation_p.R145H	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	197					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GCCCTCAACCGCATCAGCCAC	0.637																																						uc001gxu.2		NA																	0				large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(589-591)CGC>CAC		leucine-rich repeat-containing G protein-coupled		G	HIS/ARG,,HIS/ARG	5,4401	9.9+/-24.2	0,5,2198	63.0	47.0	53.0		590,,434	-0.8	1.0	1	dbSNP_134	53	0,8600		0,0,4300	yes	missense,intron,missense	LGR6	NM_001017403.1,NM_001017404.1,NM_021636.2	29,,29	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign,,benign	197/968,,145/916	202245595	5,13001	2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202245595G>A	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.590G>A	1.37:g.202245595G>A	ENSP00000356247:p.Arg197His					LGR6_uc001gxv.2_Missense_Mutation_p.R145H|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Intron|LGR6_uc009xac.1_RNA	p.R197H	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN			5	590	+			197			LRR 5.|Extracellular (Potential).		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.590G>A	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647540	0.47258	0.001135	0.0	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000367277;ENST00000423542	T;T;T	0.60171	0.35;0.35;0.21	5.07	-0.833	0.10782	.	0.496455	0.23226	N	0.050513	T	0.38852	0.1056	N	0.21240	0.645	0.80722	D	1	B;B	0.15930	0.013;0.015	B;B	0.15870	0.013;0.014	T	0.08046	-1.0741	10	0.41790	T	0.15	.	10.6395	0.45584	0.6663:0.0:0.3337:0.0	.	145;197	Q9HBX8-2;Q9HBX8	.;LGR6_HUMAN	H	197;145;123;123	ENSP00000356247:R197H;ENSP00000255432:R145H;ENSP00000402284:R123H	ENSP00000255432:R145H	R	+	2	0	LGR6	200512218	0.666000	0.27475	0.971000	0.41717	0.998000	0.95712	0.186000	0.16978	-0.329000	0.08527	0.637000	0.83480	CGC		0.637	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		9	33	0	0	0	0	9	33				
G0S2	50486	broad.mit.edu	37	1	209849324	209849324	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:209849324C>T	ENST00000367029.4	+	2	457	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	RP1-28O10.1_ENST00000441672.1_RNA|RP1-28O10.1_ENST00000445272.1_RNA	NM_015714.3	NP_056529.1	P27469	G0S2_HUMAN	G0/G1 switch 2	99					cellular lipid metabolic process (GO:0044255)|extrinsic apoptotic signaling pathway (GO:0097191)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|small molecule metabolic process (GO:0044281)	lipid particle (GO:0005811)|mitochondrion (GO:0005739)				large_intestine(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.041)		CCTGTCCAACCGGCAGCACGC	0.662																																						uc001hhi.3		NA																	0					0						c.(295-297)CGG>TGG		G0/G1switch 2							14.0	17.0	16.0					1																	209849324		2116	4191	6307	SO:0001583	missense	50486				cell cycle			g.chr1:209849324C>T		CCDS1488.1	1q32.2	2014-04-22	2014-04-22		ENSG00000123689	ENSG00000123689			30229	protein-coding gene	gene with protein product	"""putative lymphocyte G0/G1 switch gene"""	614447	"""G0/G1switch 2"""			1930693, 10645953	Standard	NM_015714		Approved		uc001hhi.4	P27469	OTTHUMG00000036479	ENST00000367029.4:c.295C>T	1.37:g.209849324C>T	ENSP00000355996:p.Arg99Trp						p.R99W	NM_015714	NP_056529	P27469	G0S2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.041)	2	552	+			99					Q6FGC8	Missense_Mutation	SNP	ENST00000367029.4	37	c.295C>T	CCDS1488.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932543	0.73442	.	.	ENSG00000123689	ENST00000367029	.	.	.	4.75	3.76	0.43208	.	0.117378	0.32503	U	0.006006	T	0.64349	0.2590	L	0.29908	0.895	0.46542	D	0.999099	D	0.89917	1.0	D	0.91635	0.999	T	0.68804	-0.5312	9	0.87932	D	0	-18.5016	13.6728	0.62436	0.2514:0.7486:0.0:0.0	.	99	P27469	G0S2_HUMAN	W	99	.	ENSP00000355996:R99W	R	+	1	2	G0S2	207915947	0.998000	0.40836	0.371000	0.25978	0.065000	0.16274	0.619000	0.24388	2.209000	0.71365	0.313000	0.20887	CGG		0.662	G0S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088732.1	NM_015714		9	30	0	0	0	0	9	30				
OR2L8	391190	broad.mit.edu	37	1	248112521	248112521	+	Missense_Mutation	SNP	G	G	A	rs148005952	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:248112521G>A	ENST00000357191.3	+	1	362	c.362G>A	c.(361-363)cGt>cAt	p.R121H	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R121L(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GCCTATGATCGTTACATTGCT	0.443													G|||	5	0.000998403	0.0008	0.0	5008	,	,		24235	0.003		0.001	False		,,,				2504	0.0					uc001idt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(361-363)CGT>CAT		olfactory receptor, family 2, subfamily L,		G	HIS/ARG,	2,4404		0,2,2201	306.0	260.0	275.0		362,	1.6	0.0	1	dbSNP_134	275	8,8592		0,8,4292	no	missense,intron	OR2L13,OR2L8	NM_001001963.1,NM_175911.2	29,	0,10,6493	AA,AG,GG		0.093,0.0454,0.0769	possibly-damaging,	121/313,	248112521	10,12996	2203	4300	6503	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112521G>A	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.362G>A	1.37:g.248112521G>A	ENSP00000349719:p.Arg121His					OR2L13_uc001ids.2_Intron	p.R121H	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	362	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		121			Cytoplasmic (Potential).		Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.362G>A	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	12.96	2.095767	0.36952	4.54E-4	9.3E-4	ENSG00000196936	ENST00000357191	T	0.77489	-1.1	1.64	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.540487	0.13896	N	0.355267	T	0.77538	0.4145	M	0.85197	2.74	0.36108	D	0.844631	B	0.29378	0.243	B	0.24269	0.052	T	0.81123	-0.1076	10	0.62326	D	0.03	.	11.1275	0.48328	0.0:0.0:1.0:0.0	.	121	Q8NGY9	OR2L8_HUMAN	H	121	ENSP00000349719:R121H	ENSP00000349719:R121H	R	+	2	0	OR2L8	246179144	0.928000	0.31464	0.048000	0.18961	0.037000	0.13140	5.493000	0.66899	0.905000	0.36596	0.479000	0.44913	CGT		0.443	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			38	153	0	0	0	0	38	153				
FRMD4A	55691	broad.mit.edu	37	10	13698869	13698869	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:13698869G>A	ENST00000357447.2	-	22	3088	c.2720C>T	c.(2719-2721)cCg>cTg	p.P907L	FRMD4A_ENST00000378503.1_Missense_Mutation_p.P907L|FRMD4A_ENST00000358621.4_Missense_Mutation_p.P892L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	907					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GCCCAGCGACGGAGTCCGCAG	0.751																																						uc001ims.2		NA																	0				ovary(1)|skin(1)|pancreas(1)	3						c.(2719-2721)CCG>CTG		FERM domain containing 4A							10.0	13.0	12.0					10																	13698869		2092	3982	6074	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13698869G>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2720C>T	10.37:g.13698869G>A	ENSP00000350032:p.Pro907Leu					FRMD4A_uc009xjf.1_Missense_Mutation_p.P907L	p.P907L	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN			22	3072	-			907					A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.2720C>T	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718261	0.89205	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.86865	-2.17;-2.18;-2.18	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.86632	0.5979	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	P	0.50659	0.647	D	0.88831	0.3305	10	0.87932	D	0	-26.2359	18.1345	0.89614	0.0:0.0:1.0:0.0	.	907	Q9P2Q2	FRM4A_HUMAN	L	892;907;907	ENSP00000351438:P892L;ENSP00000350032:P907L;ENSP00000367764:P907L	ENSP00000350032:P907L	P	-	2	0	FRMD4A	13738875	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	9.210000	0.95106	2.257000	0.74773	0.185000	0.17295	CCG		0.751	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		6	10	0	0	0	0	6	10				
MARCH8	220972	broad.mit.edu	37	10	45956749	45956749	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:45956749G>A	ENST00000319836.3	-	5	1102	c.353C>T	c.(352-354)tCc>tTc	p.S118F	MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000453424.2_Missense_Mutation_p.S400F|MARCH8_ENST00000395769.2_Missense_Mutation_p.S118F|MARCH8_ENST00000395771.3_Missense_Mutation_p.S118F	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	118					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S118F(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						GCGCGTGTCGGAGCTCTTGAT	0.572																																					NSCLC(102;658 1594 2173 16344 34808)	uc001jci.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(352-354)TCC>TTC		cellular modulator of immune recognition isoform							72.0	68.0	69.0					10																	45956749		2203	4300	6503	SO:0001583	missense	220972					cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr10:45956749G>A	AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	23356	protein-coding gene	gene with protein product		613335	"""c-mir, cellular modulator of immune recognition"", ""membrane-associated ring finger (C3HC4) 8"""	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.353C>T	10.37:g.45956749G>A	ENSP00000317087:p.Ser118Phe					MARCH8_uc001jch.2_Missense_Mutation_p.S400F|MARCH8_uc001jcj.1_Missense_Mutation_p.S118F|MARCH8_uc001jck.1_Missense_Mutation_p.S118F|MARCH8_uc001jcg.1_5'UTR	p.S118F	NM_001002266	NP_001002266	Q5T0T0	MARH8_HUMAN			5	592	-			118			RING-CH-type.		B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Missense_Mutation	SNP	ENST00000319836.3	37	c.353C>T	CCDS7213.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.830629	0.91036	.	.	ENSG00000165406	ENST00000395771;ENST00000319836;ENST00000395769	T;T;T	0.48201	0.82;0.82;0.82	5.72	5.72	0.89469	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.000000	0.85682	D	0.000000	T	0.80160	0.4572	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.989	D	0.86101	0.1556	10	0.87932	D	0	-34.5056	17.7332	0.88384	0.0:0.0:1.0:0.0	.	118;282	Q5T0T0;Q5JQ16	MARH8_HUMAN;.	F	118	ENSP00000379118:S118F;ENSP00000317087:S118F;ENSP00000379116:S118F	ENSP00000317087:S118F	S	-	2	0	MARCH8	45276755	1.000000	0.71417	0.971000	0.41717	0.724000	0.41520	9.813000	0.99286	2.865000	0.98341	0.655000	0.94253	TCC		0.572	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051217.1	NM_145021		5	45	0	0	0	0	5	45				
NDST2	8509	broad.mit.edu	37	10	75567373	75567373	+	Silent	SNP	A	A	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:75567373A>G	ENST00000309979.6	-	3	1330	c.774T>C	c.(772-774)cgT>cgC	p.R258R	RP11-574K11.31_ENST00000603027.1_Silent_p.R258R|NDST2_ENST00000299641.4_Silent_p.R135R			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	258	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					GCCGGGCCCGACGAAGAACTG	0.557																																						uc001jvk.2		NA																	0				ovary(1)	1						c.(772-774)CGT>CGC		heparan glucosaminyl							51.0	52.0	52.0					10																	75567373		2203	4300	6503	SO:0001819	synonymous_variant	8509					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr10:75567373A>G	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.774T>C	10.37:g.75567373A>G						NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Silent_p.R135R|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Silent_p.R135R	p.R258R	NM_003635	NP_003626	P52849	NDST2_HUMAN			3	1578	-	Prostate(51;0.0112)		258			Lumenal (Potential).|Heparan sulfate N-deacetylase 2.		Q2TB32|Q59H89	Silent	SNP	ENST00000309979.6	37	c.774T>C	CCDS7335.1																																																																																				0.557	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		8	36	0	0	0	0	8	36				
CAMK2G	818	broad.mit.edu	37	10	75608802	75608802	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:75608802G>C	ENST00000351293.3	-	7	543	c.486C>G	c.(484-486)atC>atG	p.I162M	CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000305762.7_Missense_Mutation_p.I162M|RP11-574K11.8_ENST00000446730.2_RNA|CAMK2G_ENST00000423381.1_Missense_Mutation_p.I162M|CAMK2G_ENST00000372765.1_Missense_Mutation_p.I162M|CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000394762.2_Missense_Mutation_p.I162M|CAMK2G_ENST00000322635.3_Missense_Mutation_p.I162M|CAMK2G_ENST00000322680.3_Missense_Mutation_p.I162M	NM_001222.3|NM_172173.2	NP_001213.2|NP_751913.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	162	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|dephosphorylation (GO:0016311)|G1/S transition of mitotic cell cycle (GO:0000082)|insulin secretion (GO:0030073)|interferon-gamma-mediated signaling pathway (GO:0060333)|nervous system development (GO:0007399)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of calcium ion transport (GO:0051924)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of skeletal muscle adaptation (GO:0014733)|synaptic transmission (GO:0007268)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)				Bosutinib(DB06616)	CCTGTACTTCGATGGCTAGGC	0.562											OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001jvv.1		NA																	0				lung(1)|stomach(1)	2						c.(460-462)ATC>ATG		calcium/calmodulin-dependent protein kinase II							119.0	102.0	108.0					10																	75608802		2203	4300	6503	SO:0001583	missense	818				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:75608802G>C	U81554	CCDS7336.1, CCDS7337.1, CCDS7338.1, CCDS73153.1	10q22	2008-10-30	2008-10-30		ENSG00000148660	ENSG00000148660			1463	protein-coding gene	gene with protein product		602123	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma"""	CAMKG		8287681	Standard	NM_001204492		Approved		uc001jvm.2	Q13555	OTTHUMG00000018492	ENST00000351293.3:c.486C>G	10.37:g.75608802G>C	ENSP00000277853:p.Ile162Met		OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1161	CAMK2G_uc001jvm.1_Missense_Mutation_p.I162M|CAMK2G_uc001jvo.1_Missense_Mutation_p.I162M|CAMK2G_uc001jvq.1_Missense_Mutation_p.I162M|CAMK2G_uc001jvr.1_Missense_Mutation_p.I162M|CAMK2G_uc001jvp.1_Missense_Mutation_p.I162M|CAMK2G_uc001jvs.1_Missense_Mutation_p.I162M|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Missense_Mutation_p.I140M|CAMK2G_uc010qkv.1_Intron	p.I154M	NM_172171	NP_751911	Q13555	KCC2G_HUMAN			7	586	-	Prostate(51;0.0112)		162			Protein kinase.		O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	Missense_Mutation	SNP	ENST00000351293.3	37	c.462C>G	CCDS7336.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762234	0.49468	.	.	ENSG00000148660	ENST00000351293;ENST00000322635;ENST00000423381;ENST00000394763;ENST00000322680;ENST00000394762;ENST00000433289;ENST00000305762;ENST00000372765	T;T;T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83	5.76	-6.06	0.02165	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	0.27063	0.0663	N	0.17723	0.515	0.80722	D	1	D;D;D;D;D;P;D;D	0.89917	1.0;0.997;1.0;0.998;1.0;0.932;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.966;0.997;0.988;0.998;0.914;0.998;0.997	T	0.23547	-1.0185	10	0.87932	D	0	.	10.924	0.47182	0.6592:0.0:0.1848:0.156	.	154;162;162;162;162;162;162;162	B3KY86;Q13555-4;Q13555-6;Q13555-10;A8K6N9;Q13555;Q13555-5;Q13555-8	.;.;.;.;.;KCC2G_HUMAN;.;.	M	162;162;162;162;162;162;97;162;162	ENSP00000277853:I162M;ENSP00000315599:I162M;ENSP00000410298:I162M;ENSP00000319060:I162M;ENSP00000378243:I162M;ENSP00000393784:I97M;ENSP00000307082:I162M;ENSP00000361851:I162M	ENSP00000307082:I162M	I	-	3	3	CAMK2G	75278808	0.003000	0.15002	0.799000	0.32177	0.973000	0.67179	-1.185000	0.03073	-1.194000	0.02684	-0.812000	0.03155	ATC		0.562	CAMK2G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048715.1	NM_172169		4	111	0	0	0	0	4	111				
ZMIZ1	57178	broad.mit.edu	37	10	81063878	81063878	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:81063878C>T	ENST00000334512.5	+	19	2804	c.2232C>T	c.(2230-2232)atC>atT	p.I744I	ZMIZ1_ENST00000446377.2_5'Flank	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	744					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AGTGCCCCATCACATTCCGGC	0.612																																						uc001kaf.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(2230-2232)ATC>ATT		retinoic acid induced 17							81.0	64.0	70.0					10																	81063878		2203	4300	6503	SO:0001819	synonymous_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81063878C>T	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2232C>T	10.37:g.81063878C>T						ZMIZ1_uc001kag.2_Silent_p.I620I|ZMIZ1_uc010qlq.1_5'Flank	p.I744I	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		19	2804	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		744			SP-RING-type.		Q5JSH9|Q7Z7E6	Silent	SNP	ENST00000334512.5	37	c.2232C>T	CCDS7357.1																																																																																				0.612	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		10	33	0	0	0	0	10	33				
PLCE1	51196	broad.mit.edu	37	10	96005912	96005912	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:96005912C>G	ENST00000371380.3	+	7	2865	c.2630C>G	c.(2629-2631)tCt>tGt	p.S877C	PLCE1_ENST00000260766.3_Missense_Mutation_p.S877C|PLCE1_ENST00000371385.3_Missense_Mutation_p.S569C|PLCE1_ENST00000371375.1_Missense_Mutation_p.S569C			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	877					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACACACCTCTCTGCCCGCTGC	0.582																																						uc001kjk.2		NA																	0				ovary(2)|skin(1)	3						c.(2629-2631)TCT>TGT		phospholipase C, epsilon 1 isoform 1							60.0	65.0	63.0					10																	96005912		2162	4261	6423	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96005912C>G		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.2630C>G	10.37:g.96005912C>G	ENSP00000360431:p.Ser877Cys					PLCE1_uc010qnx.1_Missense_Mutation_p.S877C|PLCE1_uc001kjm.2_Missense_Mutation_p.S569C	p.S877C	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			8	3264	+		Colorectal(252;0.0458)	877					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.2630C>G	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649212	0.87958	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	6.04	6.04	0.98038	.	0.207502	0.42821	D	0.000660	T	0.62551	0.2437	L	0.52573	1.65	0.46222	D	0.998931	D;P;D	0.76494	0.998;0.929;0.999	P;P;P	0.58391	0.786;0.714;0.838	T	0.61978	-0.6951	10	0.87932	D	0	.	20.6524	0.99598	0.0:1.0:0.0:0.0	.	877;569;877	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	C	877;877;569;569	ENSP00000260766:S877C;ENSP00000360431:S877C;ENSP00000360438:S569C;ENSP00000360426:S569C	ENSP00000260766:S877C	S	+	2	0	PLCE1	95995902	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	3.658000	0.54482	2.890000	0.99128	0.585000	0.79938	TCT		0.582	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		3	49	0	0	0	0	3	49				
NOC3L	64318	broad.mit.edu	37	10	96109029	96109029	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:96109029C>G	ENST00000371361.3	-	10	1335	c.1235G>C	c.(1234-1236)aGa>aCa	p.R412T	NOC3L_ENST00000371350.1_Missense_Mutation_p.R412T|NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000543788.1_Missense_Mutation_p.R150T	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	412					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TTCGTAATTTCTGCCCTTCAC	0.328																																						uc001kjq.1		NA																	0				ovary(1)	1						c.(1234-1236)AGA>ACA		nucleolar complex associated 3 homolog							76.0	78.0	77.0					10																	96109029		2203	4300	6503	SO:0001583	missense	64318					nuclear speck|nucleolus	binding	g.chr10:96109029C>G	AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1235G>C	10.37:g.96109029C>G	ENSP00000360412:p.Arg412Thr					NOC3L_uc009xuk.1_Missense_Mutation_p.R197T	p.R412T	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN			10	1323	-		Colorectal(252;0.0897)	412					Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	c.1235G>C	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.622009	0.46840	.	.	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	T;T;T	0.65732	-0.17;1.5;1.5	5.91	4.83	0.62350	Armadillo-like helical (1);	0.279448	0.37955	N	0.001878	T	0.62913	0.2467	M	0.72479	2.2	0.39591	D	0.969589	B	0.24823	0.112	B	0.23419	0.046	T	0.64698	-0.6346	10	0.51188	T	0.08	-19.6394	15.9775	0.80079	0.0:0.9253:0.0:0.0747	.	412	Q8WTT2	NOC3L_HUMAN	T	150;412;412	ENSP00000437838:R150T;ENSP00000360412:R412T;ENSP00000360401:R412T	ENSP00000360401:R412T	R	-	2	0	NOC3L	96099019	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.566000	0.45948	2.814000	0.96858	0.650000	0.86243	AGA		0.328	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451		13	45	0	0	0	0	13	45				
RRP12	23223	broad.mit.edu	37	10	99131844	99131844	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:99131844G>A	ENST00000370992.4	-	20	2440	c.2329C>T	c.(2329-2331)Cgg>Tgg	p.R777W	RRP12_ENST00000536831.1_Missense_Mutation_p.R495W|RRP12_ENST00000315563.6_Missense_Mutation_p.R677W|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.R716W	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	777						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		AGGTAGGGCCGGATGGTGGAG	0.622																																						uc001knf.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2329-2331)CGG>TGG		ribosomal RNA processing 12 homolog isoform 1							74.0	60.0	65.0					10																	99131844		2203	4300	6503	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99131844G>A		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2329C>T	10.37:g.99131844G>A	ENSP00000360031:p.Arg777Trp					RRP12_uc009xvl.2_5'UTR|RRP12_uc009xvm.2_Missense_Mutation_p.R495W|RRP12_uc010qou.1_Missense_Mutation_p.R716W|RRP12_uc009xvn.2_Missense_Mutation_p.R677W	p.R777W	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	20	2468	-		Colorectal(252;0.162)	777					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.2329C>T	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951970	0.73787	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.71	3.82	0.43975	Armadillo-like helical (1);Armadillo-type fold (1);	0.454319	0.25169	N	0.032616	T	0.64170	0.2574	L	0.50333	1.59	0.37982	D	0.933622	D;D;D;D	0.69078	0.997;0.997;0.995;0.976	P;P;P;B	0.54924	0.517;0.764;0.711;0.28	T	0.69068	-0.5243	10	0.66056	D	0.02	-13.4586	7.6072	0.28110	0.1353:0.0:0.7312:0.1335	.	716;677;495;777	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	W	777;677;716;495	ENSP00000360031:R777W;ENSP00000324315:R677W;ENSP00000414863:R716W;ENSP00000446184:R495W	ENSP00000324315:R677W	R	-	1	2	RRP12	99121834	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	2.908000	0.48750	1.382000	0.46385	0.655000	0.94253	CGG		0.622	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		12	41	0	0	0	0	12	41				
ADRA2A	150	broad.mit.edu	37	10	112837979	112837979	+	Silent	SNP	G	G	C	rs12416313	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:112837979G>C	ENST00000280155.2	+	1	1190	c.225G>C	c.(223-225)acG>acC	p.T75T		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	60					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CCGTGTTCACGAGCCGCGCGC	0.647													G|||	10	0.00199681	0.0008	0.013	5008	,	,		17231	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(173;605 2658 7278 49362)	uc001kzo.2		NA																	0					0						c.(223-225)ACG>ACC		alpha-2A-adrenergic receptor	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	G		1,4405	2.1+/-5.4	0,1,2202	52.0	46.0	48.0		225	-2.7	0.8	10	dbSNP_120	48	0,8600		0,0,4300	no	coding-synonymous	ADRA2A	NM_000681.3		0,1,6502	CC,CG,GG		0.0,0.0227,0.0077		75/466	112837979	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	150				actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding	g.chr10:112837979G>C	AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"""GPCR / Class A : Adrenoceptors : alpha"""	281	protein-coding gene	gene with protein product	"""alpha-2AAR subtype C10"", "" alpha-2A-adrenergic receptor"""	104210	"""adrenergic, alpha-2A-, receptor"""	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.225G>C	10.37:g.112837979G>C							p.T75T	NM_000681	NP_000672	P08913	ADA2A_HUMAN		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	1	1190	+		Breast(234;0.0735)|Lung NSC(174;0.238)	60			Cytoplasmic (By similarity).		B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Silent	SNP	ENST00000280155.2	37	c.225G>C	CCDS7569.2																																																																																				0.647	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050372.2	NM_000681		6	48	0	0	0	0	6	48				
HMX3	340784	broad.mit.edu	37	10	124896741	124896741	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:124896741G>A	ENST00000357878.5	+	2	657	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	190					brain development (GO:0007420)|cell differentiation (GO:0030154)|embryo implantation (GO:0007566)|inner ear morphogenesis (GO:0042472)|maternal process involved in female pregnancy (GO:0060135)|neuromuscular process controlling balance (GO:0050885)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		AAAGGAAGGCGAAGCGGCGCC	0.652																																						uc010quc.1		NA																	0					0						c.(568-570)GAA>AAA		H6 family homeobox 3							10.0	12.0	12.0					10																	124896741		1872	4103	5975	SO:0001583	missense	340784				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr10:124896741G>A		CCDS41575.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188620	ENSG00000188620		"""Homeoboxes / ANTP class : NKL subclass"""	5019	protein-coding gene	gene with protein product		613380	"""homeo box (H6 family) 3"""				Standard	NM_001105574		Approved	NKX5-1	uc010quc.2	A6NHT5	OTTHUMG00000019199	ENST00000357878.5:c.568G>A	10.37:g.124896741G>A	ENSP00000350549:p.Glu190Lys						p.E190K	NM_001105574	NP_001099044	A6NHT5	HMX3_HUMAN		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)	2	568	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	190					A8MU06	Missense_Mutation	SNP	ENST00000357878.5	37	c.568G>A	CCDS41575.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452429	0.43531	.	.	ENSG00000188620	ENST00000357878	D	0.90732	-2.72	4.22	4.22	0.49857	.	0.459022	0.22492	N	0.059351	T	0.73171	0.3553	N	0.08118	0	0.34410	D	0.696231	P	0.39665	0.682	B	0.25405	0.06	T	0.77797	-0.2453	10	0.13853	T	0.58	.	9.6477	0.39877	0.0993:0.0:0.9007:0.0	.	190	A6NHT5	HMX3_HUMAN	K	190	ENSP00000350549:E190K	ENSP00000350549:E190K	E	+	1	0	HMX3	124886731	0.996000	0.38824	1.000000	0.80357	0.884000	0.51177	0.483000	0.22292	2.346000	0.79739	0.455000	0.32223	GAA		0.652	HMX3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050842.4	XM_291716		4	10	0	0	0	0	4	10				
EDRF1	26098	broad.mit.edu	37	10	127409947	127409947	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:127409947C>G	ENST00000356792.4	+	2	515	c.283C>G	c.(283-285)Ctt>Gtt	p.L95V	C10orf137_ENST00000337623.3_Missense_Mutation_p.L95V|RP11-383C5.4_ENST00000423178.2_lincRNA|RP11-383C5.5_ENST00000430970.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		95			L -> F (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.L95F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AACTACCATTCTTGGCAACAG	0.438																																						uc001liq.1		NA																	1	Substitution - Missense(1)	p.L95F(1)	large_intestine(1)	ovary(5)|large_intestine(3)|lung(2)	10						c.(283-285)CTT>GTT		erythroid differentiation-related factor 1							78.0	71.0	74.0					10																	127409947		2203	4300	6503	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127409947C>G																												ENST00000356792.4:c.283C>G	10.37:g.127409947C>G	ENSP00000349244:p.Leu95Val					uc001lim.1_5'Flank|C10orf137_uc001lin.2_Missense_Mutation_p.L95V|C10orf137_uc001lio.1_Missense_Mutation_p.L95V|C10orf137_uc001lip.1_5'UTR	p.L95V	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN			2	576	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	95		L -> F (in a colorectal cancer sample; somatic mutation).			B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.283C>G	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855403	0.51376	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	.	.	.	5.12	5.12	0.69794	.	0.071281	0.56097	D	0.000028	T	0.30166	0.0756	N	0.03608	-0.345	0.45354	D	0.998347	P;P;P	0.50272	0.933;0.906;0.933	P;B;P	0.44811	0.461;0.416;0.461	T	0.18366	-1.0339	9	0.17369	T	0.5	.	18.5653	0.91114	0.0:1.0:0.0:0.0	.	95;95;95	Q3B7T1;Q3B7T1-5;Q3B7T1-3	EDRF1_HUMAN;.;.	V	95	.	ENSP00000336727:L95V	L	+	1	0	C10orf137	127399937	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.653000	0.67967	2.361000	0.80049	0.557000	0.71058	CTT		0.438	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			10	53	0	0	0	0	10	53				
LRRC27	80313	broad.mit.edu	37	10	134165110	134165110	+	Splice_Site	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:134165110G>A	ENST00000368614.3	+	7	1031		c.e7-1		LRRC27_ENST00000344079.5_Splice_Site|LRRC27_ENST00000368615.3_Splice_Site|LRRC27_ENST00000368610.3_Splice_Site|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368612.1_Splice_Site|LRRC27_ENST00000368613.4_Splice_Site|LRRC27_ENST00000432555.2_Splice_Site|LRRC27_ENST00000392638.2_Splice_Site	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TGTAATTTTAGAAGGAAGACA	0.483																																						uc010quw.1		NA																	0				ovary(1)	1						c.e7-1		leucine rich repeat containing 27 isoform a							172.0	189.0	183.0					10																	134165110		2203	4300	6503	SO:0001630	splice_region_variant	80313							g.chr10:134165110G>A	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.927-1G>A	10.37:g.134165110G>A						LRRC27_uc001llf.2_Splice_Site_p.E341_splice|LRRC27_uc010quv.1_Splice_Site_p.R309_splice|LRRC27_uc001llg.2_Splice_Site|LRRC27_uc001lli.2_Splice_Site_p.R309_splice|LRRC27_uc001llj.2_Splice_Site_p.R247_splice|LRRC27_uc001llk.3_Splice_Site_p.R182_splice	p.R309_splice	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	7	1122	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)						A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Splice_Site	SNP	ENST00000368614.3	37	c.927_splice	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	G	4.648	0.120383	0.08881	.	.	ENSG00000148814	ENST00000368615;ENST00000392638;ENST00000344079;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555	.	.	.	4.41	2.49	0.30216	.	.	.	.	.	.	.	.	.	.	.	0.24273	N	0.995239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3402	0.21319	0.1047:0.1879:0.7074:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRC27	134015100	0.353000	0.24904	0.004000	0.12327	0.026000	0.11368	0.642000	0.24735	0.546000	0.28920	0.561000	0.74099	.		0.483	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462	Intron	63	213	0	0	0	0	63	213				
MUC2	4583	broad.mit.edu	37	11	1096554	1096554	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:1096554G>A	ENST00000441003.2	+	34	6606	c.6579G>A	c.(6577-6579)atG>atA	p.M2193I	MUC2_ENST00000361558.6_Missense_Mutation_p.M331I	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4555					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCGTGCATATGATGCCCATGC	0.637																																						uc001lsx.1		NA																	0				lung(1)|breast(1)	2						c.(13663-13665)ATG>ATA		mucin 2 precursor	Pranlukast(DB01411)						66.0	70.0	68.0					11																	1096554		2192	4283	6475	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1096554G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.6579G>A	11.37:g.1096554G>A	ENSP00000415183:p.Met2193Ile						p.M4555I	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	37	13692	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	4555			VWFD 4.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.13665G>A		.	.	.	.	.	.	.	.	.	.	g	2.995	-0.207347	0.06180	.	.	ENSG00000198788	ENST00000441003;ENST00000361558	T;T	0.38401	2.78;1.14	3.57	2.65	0.31530	.	.	.	.	.	T	0.19046	0.0457	N	0.17312	0.475	0.09310	N	1	B	0.25441	0.126	B	0.25291	0.059	T	0.23084	-1.0198	9	0.22109	T	0.4	.	4.1952	0.10440	0.2173:0.0:0.5998:0.1828	.	2193	E7EUV1	.	I	2193;331	ENSP00000415183:M2193I;ENSP00000354885:M331I	ENSP00000354885:M331I	M	+	3	0	MUC2	1086554	0.491000	0.26019	0.001000	0.08648	0.005000	0.04900	2.149000	0.42244	0.700000	0.31782	0.479000	0.44913	ATG		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		5	20	0	0	0	0	5	20				
OR52K2	119774	broad.mit.edu	37	11	4470668	4470668	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:4470668C>G	ENST00000325719.4	+	1	144	c.99C>G	c.(97-99)ttC>ttG	p.F33L	AC010930.1_ENST00000408103.1_RNA	NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	33						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(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATCCCTTTCTGCTTAGCAT	0.517																																						uc001lyz.1		NA																	0				skin(2)	2						c.(97-99)TTC>TTG		olfactory receptor, family 52, subfamily K,							165.0	143.0	151.0					11																	4470668		2201	4298	6499	SO:0001583	missense	119774				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4470668C>G	AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"""GPCR / Class A : Olfactory receptors"""	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.99C>G	11.37:g.4470668C>G	ENSP00000318956:p.Phe33Leu						p.F33L	NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	99	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	33			Helical; Name=1; (Potential).		A8MUY8|B2RP35|Q6IFK4	Missense_Mutation	SNP	ENST00000325719.4	37	c.99C>G	CCDS31351.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.907429	0.33721	.	.	ENSG00000181963	ENST00000325719	T	0.00625	6.14	4.42	1.42	0.22433	.	0.133718	0.34338	N	0.004051	T	0.00784	0.0026	L	0.46614	1.455	0.32205	N	0.577359	B	0.11235	0.004	B	0.10450	0.005	T	0.17107	-1.0380	10	0.56958	D	0.05	.	9.1156	0.36755	0.0:0.7412:0.0:0.2588	.	33	Q8NGK3	O52K2_HUMAN	L	33	ENSP00000318956:F33L	ENSP00000318956:F33L	F	+	3	2	OR52K2	4427244	0.948000	0.32251	0.999000	0.59377	0.726000	0.41606	0.116000	0.15561	0.494000	0.27859	0.491000	0.48974	TTC		0.517	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385844.1	NM_001005172		7	70	0	0	0	0	7	70				
CNGA4	1262	broad.mit.edu	37	11	6262988	6262988	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:6262988G>A	ENST00000379936.2	+	5	1360	c.1245G>A	c.(1243-1245)gaG>gaA	p.E415E	CNGA4_ENST00000533426.1_Silent_p.E184E	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	415					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|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)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTTTGGGGAGATCAGCATCA	0.552																																						uc001mco.2		NA																	0				skin(1)	1						c.(1243-1245)GAG>GAA		cyclic nucleotide gated channel alpha 4							189.0	163.0	172.0					11																	6262988		2201	4296	6497	SO:0001819	synonymous_variant	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6262988G>A	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.1245G>A	11.37:g.6262988G>A						CNGA4_uc010raa.1_Silent_p.E184E|CNGA4_uc001mcn.2_Silent_p.E375E	p.E415E	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	5	1352	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	415			cNMP.|Cytoplasmic (Potential).			Silent	SNP	ENST00000379936.2	37	c.1245G>A	CCDS31408.1																																																																																				0.552	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		41	69	0	0	0	0	41	69				
SBF2	81846	broad.mit.edu	37	11	9810748	9810748	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:9810748C>T	ENST00000256190.8	-	35	4977	c.4840G>A	c.(4840-4842)Gaa>Aaa	p.E1614K	SBF2-AS1_ENST00000526617.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000534671.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1614					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GGCCCAGCTTCTCCAGCCAGG	0.537																																						uc001mib.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(4840-4842)GAA>AAA		SET binding factor 2							98.0	90.0	93.0					11																	9810748		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9810748C>T	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.4840G>A	11.37:g.9810748C>T	ENSP00000256190:p.Glu1614Lys					uc001mhz.1_Intron|SBF2_uc001mid.2_Missense_Mutation_p.E258K|SBF2_uc001mic.2_5'Flank|uc001mie.3_Intron	p.E1614K	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	35	4978	-			1614					Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.4840G>A	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.023744	0.35701	.	.	ENSG00000133812	ENST00000256190;ENST00000532095	D	0.85339	-1.97	5.89	4.98	0.66077	.	2.368000	0.01148	N	0.006341	T	0.79575	0.4469	N	0.22421	0.69	0.28953	N	0.89026	B	0.12630	0.006	B	0.20384	0.029	T	0.58064	-0.7702	10	0.06236	T	0.91	.	14.9005	0.70675	0.0:0.9316:0.0:0.0684	.	1614	Q86WG5	MTMRD_HUMAN	K	1614;2	ENSP00000256190:E1614K	ENSP00000256190:E1614K	E	-	1	0	SBF2	9767324	0.703000	0.27826	0.917000	0.36280	0.991000	0.79684	3.184000	0.50926	1.500000	0.48636	0.655000	0.94253	GAA		0.537	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		15	50	0	0	0	0	15	50				
SBF2	81846	broad.mit.edu	37	11	9810835	9810835	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:9810835C>T	ENST00000256190.8	-	35	4890	c.4753G>A	c.(4753-4755)Gaa>Aaa	p.E1585K	SBF2-AS1_ENST00000526617.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000534671.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1585					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AGGGTCTCTTCTATGTAGTAA	0.488																																						uc001mib.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(4753-4755)GAA>AAA		SET binding factor 2							97.0	106.0	103.0					11																	9810835		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9810835C>T	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.4753G>A	11.37:g.9810835C>T	ENSP00000256190:p.Glu1585Lys					uc001mhz.1_Intron|SBF2_uc001mid.2_Missense_Mutation_p.E229K|SBF2_uc001mic.2_5'Flank|uc001mie.3_Intron	p.E1585K	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	35	4891	-			1585					Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.4753G>A	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270062	0.80469	.	.	ENSG00000133812	ENST00000256190	D	0.89875	-2.58	5.89	4.97	0.65823	.	0.182769	0.64402	D	0.000017	D	0.90376	0.6988	L	0.56124	1.755	0.54753	D	0.999986	P	0.49090	0.919	P	0.51453	0.67	D	0.89792	0.3969	10	0.41790	T	0.15	.	16.8985	0.86107	0.0:0.8718:0.1282:0.0	.	1585	Q86WG5	MTMRD_HUMAN	K	1585	ENSP00000256190:E1585K	ENSP00000256190:E1585K	E	-	1	0	SBF2	9767411	1.000000	0.71417	0.886000	0.34754	0.981000	0.71138	6.082000	0.71318	1.460000	0.47911	0.655000	0.94253	GAA		0.488	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		19	75	0	0	0	0	19	75				
OR4C46	119749	broad.mit.edu	37	11	51515816	51515816	+	Silent	SNP	C	C	T	rs554045341		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:51515816C>T	ENST00000328188.1	+	1	535	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TATGTGTGATCTGAACCCTTT	0.458																																						uc010ric.1		NA																	0				ovary(1)	1						c.(535-537)CTG>TTG		olfactory receptor, family 4, subfamily C,							109.0	101.0	104.0					11																	51515816		2201	4294	6495	SO:0001819	synonymous_variant	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515816C>T		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.535C>T	11.37:g.51515816C>T							p.L179L	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			1	535	+			179			Extracellular (Potential).			Silent	SNP	ENST00000328188.1	37	c.535C>T	CCDS31498.1																																																																																				0.458	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		23	98	0	0	0	0	23	98				
APLNR	187	broad.mit.edu	37	11	57003609	57003609	+	Silent	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:57003609G>T	ENST00000606794.1	-	1	1066	c.870C>A	c.(868-870)atC>atA	p.I290I		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	290					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						AGTAGGGGAAGATGTTCATGA	0.587																																						uc001njo.2		NA																	0				lung(5)|ovary(1)	6						c.(868-870)ATC>ATA		apelin receptor							109.0	62.0	78.0					11																	57003609		2201	4296	6497	SO:0001819	synonymous_variant	187					integral to plasma membrane	G-protein coupled receptor activity	g.chr11:57003609G>T	U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"""APJ (apelin) receptor"""	600052	"""angiotensin II receptor-like 1"""	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.870C>A	11.37:g.57003609G>T						APLNR_uc001njn.3_RNA	p.I290I	NM_005161	NP_005152	P35414	APJ_HUMAN			1	1319	-			290			Helical; Name=7; (Potential).			Silent	SNP	ENST00000606794.1	37	c.870C>A	CCDS7950.1																																																																																				0.587	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470575.1	NM_005161		5	46	1	0	1.24e-05	1.63e-05	5	46				
OR5B17	219965	broad.mit.edu	37	11	58125821	58125821	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:58125821G>C	ENST00000357377.3	-	1	721	c.722C>G	c.(721-723)tCt>tGt	p.S241C		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AATGAGGTGAGAACCACAGGT	0.393																																						uc010rke.1		NA																	0				ovary(2)|skin(1)	3						c.(721-723)TCT>TGT		olfactory receptor, family 5, subfamily B,							116.0	112.0	114.0					11																	58125821		2201	4295	6496	SO:0001583	missense	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58125821G>C	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.722C>G	11.37:g.58125821G>C	ENSP00000349945:p.Ser241Cys						p.S241C	NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN			1	722	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	241			Helical; Name=6; (Potential).		Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	c.722C>G	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	g	16.57	3.160088	0.57368	.	.	ENSG00000197786	ENST00000357377	T	0.39787	1.06	3.27	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36815	U	0.002400	T	0.71082	0.3298	M	0.94063	3.49	0.23636	N	0.997238	D	0.89917	1.0	D	0.83275	0.996	T	0.66630	-0.5875	10	0.87932	D	0	-11.7878	13.3041	0.60342	0.0:0.0:1.0:0.0	.	241	Q8NGF7	OR5BH_HUMAN	C	241	ENSP00000349945:S241C	ENSP00000349945:S241C	S	-	2	0	OR5B17	57882397	1.000000	0.71417	0.019000	0.16419	0.005000	0.04900	7.481000	0.81124	1.667000	0.50832	0.461000	0.40582	TCT		0.393	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		8	29	0	0	0	0	8	29				
DAGLA	747	broad.mit.edu	37	11	61511546	61511546	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:61511546C>T	ENST00000257215.5	+	20	2830	c.2714C>T	c.(2713-2715)tCg>tTg	p.S905L	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	905					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTGGGGGACTCGCCCAGTCCT	0.652																																						uc001nsa.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2713-2715)TCG>TTG		neural stem cell-derived dendrite regulator							40.0	37.0	38.0					11																	61511546		2202	4296	6498	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61511546C>T	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2714C>T	11.37:g.61511546C>T	ENSP00000257215:p.Ser905Leu						p.S905L	NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	20	2825	+			905			Cytoplasmic (Potential).		A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.2714C>T	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	C	9.991	1.230717	0.22542	.	.	ENSG00000134780	ENST00000257215	T	0.23950	1.88	3.76	3.76	0.43208	.	0.626869	0.16342	N	0.218633	T	0.12944	0.0314	N	0.14661	0.345	0.32041	N	0.59818	B	0.16802	0.019	B	0.06405	0.002	T	0.05225	-1.0898	10	0.59425	D	0.04	-1.6769	3.6707	0.08273	0.2157:0.582:0.0:0.2022	.	905	Q9Y4D2	DGLA_HUMAN	L	905	ENSP00000257215:S905L	ENSP00000257215:S905L	S	+	2	0	DAGLA	61268122	0.925000	0.31364	0.998000	0.56505	0.302000	0.27658	1.717000	0.37991	2.050000	0.60909	0.561000	0.74099	TCG		0.652	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		9	37	0	0	0	0	9	37				
HNRNPUL2	221092	broad.mit.edu	37	11	62490138	62490138	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:62490138C>G	ENST00000301785.5	-	6	1222	c.1030G>C	c.(1030-1032)Gaa>Caa	p.E344Q	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.E344Q	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	344	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGTCCATTTTCTGCCTTGAGT	0.428																																						uc001nuw.2		NA																	0					0						c.(1030-1032)GAA>CAA		heterogeneous nuclear ribonucleoprotein U-like							156.0	138.0	144.0					11																	62490138		1927	4137	6064	SO:0001583	missense	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62490138C>G		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1030G>C	11.37:g.62490138C>G	ENSP00000301785:p.Glu344Gln					HNRNPUL2_uc001nuu.1_RNA	p.E344Q	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN			6	1223	-			344			B30.2/SPRY.		Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	37	c.1030G>C	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.916735	0.52546	.	.	ENSG00000214753	ENST00000301785	T	0.68624	-0.34	5.3	4.39	0.52855	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.232716	0.36555	N	0.002530	T	0.62159	0.2405	L	0.29908	0.895	0.25709	N	0.98551	P	0.45569	0.861	P	0.53593	0.73	T	0.52283	-0.8596	10	0.29301	T	0.29	-19.3784	7.8253	0.29311	0.0:0.8197:0.0:0.1803	.	344	Q1KMD3	HNRL2_HUMAN	Q	344	ENSP00000301785:E344Q	ENSP00000301785:E344Q	E	-	1	0	HNRNPUL2	62246714	0.675000	0.27558	1.000000	0.80357	0.795000	0.44927	0.751000	0.26348	1.464000	0.47987	0.650000	0.86243	GAA		0.428	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		13	55	0	0	0	0	13	55				
FKBP2	2286	broad.mit.edu	37	11	64009964	64009964	+	Silent	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:64009964C>G	ENST00000394540.3	+	2	575	c.105C>G	c.(103-105)gtC>gtG	p.V35V	FKBP2_ENST00000309366.4_Silent_p.V35V|FKBP2_ENST00000449942.2_Silent_p.V35V	NM_057092.2	NP_476433.1	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa	35					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(2)|lung(3)	5						AGATCGGGGTCAAGAAGCGGG	0.632																																						uc001nyy.2		NA																	0					0						c.(103-105)GTC>GTG		FK506 binding protein 2, 13kDa precursor							82.0	81.0	81.0					11																	64009964		2201	4297	6498	SO:0001819	synonymous_variant	2286				protein folding	endoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr11:64009964C>G	M75099	CCDS8063.1	11q13.1-q13.3	2008-07-18	2002-08-29			ENSG00000173486			3718	protein-coding gene	gene with protein product	"""FK506 binding protein 2 (13kD)"", ""peptidyl-prolyl cis-trans isomerase"", ""rapamycin-binding protein"", ""proline isomerase"""	186946	"""FK506-binding protein 2 (13kD)"""			1713687	Standard	NM_004470		Approved	FKBP-13, PPIase	uc001nyy.3	P26885		ENST00000394540.3:c.105C>G	11.37:g.64009964C>G						FKBP2_uc010rnh.1_Silent_p.V35V|FKBP2_uc001nyz.2_Silent_p.V35V	p.V35V	NM_004470	NP_004461	P26885	FKBP2_HUMAN			2	301	+			35					Q5BJH9|Q9BTS7	Silent	SNP	ENST00000394540.3	37	c.105C>G	CCDS8063.1																																																																																				0.632	FKBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396401.2	NM_004470		7	76	0	0	0	0	7	76				
CDCA5	113130	broad.mit.edu	37	11	64851416	64851416	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:64851416G>C	ENST00000275517.3	-	1	207	c.35C>G	c.(34-36)gCt>gGt	p.A12G	ZFPL1_ENST00000526791.1_5'Flank|ZFPL1_ENST00000294258.3_5'Flank|CDCA5_ENST00000404147.3_Missense_Mutation_p.A12G|ZFPL1_ENST00000525509.1_5'Flank	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	12					double-strand break repair (GO:0006302)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|regulation of cohesin localization to chromatin (GO:0071922)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGAGCGCTGAGCGGCTCCTCC	0.721																																						uc001ocp.2		NA																	0					0						c.(34-36)GCT>GGT		cell division cycle associated 5							20.0	23.0	22.0					11																	64851416		2181	4270	6451	SO:0001583	missense	113130				cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding	g.chr11:64851416G>C	BG354578	CCDS8091.1	11q13.1	2011-01-31			ENSG00000146670	ENSG00000146670			14626	protein-coding gene	gene with protein product	"""sororin"""	609374				12188893, 15837422	Standard	NM_080668		Approved		uc001ocp.2	Q96FF9	OTTHUMG00000150420	ENST00000275517.3:c.35C>G	11.37:g.64851416G>C	ENSP00000275517:p.Ala12Gly					ZFPL1_uc009yqa.2_5'Flank|ZFPL1_uc001ocq.1_5'Flank|ZFPL1_uc010rnx.1_5'Flank	p.A12G	NM_080668	NP_542399	Q96FF9	CDCA5_HUMAN			1	200	-			12					A8K625	Missense_Mutation	SNP	ENST00000275517.3	37	c.35C>G	CCDS8091.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293860	0.40594	.	.	ENSG00000146670	ENST00000275517;ENST00000404147	T;T	0.51325	0.79;0.71	5.16	2.28	0.28536	.	0.567670	0.15259	N	0.271891	T	0.33294	0.0858	L	0.47716	1.5	0.20196	N	0.999921	P	0.40970	0.734	B	0.32211	0.142	T	0.09164	-1.0687	10	0.37606	T	0.19	.	7.6128	0.28139	0.2709:0.0:0.7291:0.0	.	12	Q96FF9	CDCA5_HUMAN	G	12	ENSP00000275517:A12G;ENSP00000385711:A12G	ENSP00000275517:A12G	A	-	2	0	CDCA5	64607992	0.000000	0.05858	0.931000	0.37212	0.637000	0.38172	-0.223000	0.09177	0.211000	0.20683	-0.266000	0.10368	GCT		0.721	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385186.1	NM_080668		14	51	0	0	0	0	14	51				
PCNXL3	399909	broad.mit.edu	37	11	65380700	65380700	+	5'Flank	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:65380700G>T	ENST00000355703.3	+	0	0				MAP3K11_ENST00000309100.3_Silent_p.I176I|MAP3K11_ENST00000530153.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)							integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGAGGGCAATGATGTTGGGGT	0.667																																						uc001oew.2		NA																	0				breast(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(526-528)ATC>ATA		mitogen-activated protein kinase kinase kinase							48.0	47.0	48.0					11																	65380700		2201	4297	6498	SO:0001631	upstream_gene_variant	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65380700G>T	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539		11.37:g.65380700G>T	Exception_encountered					MAP3K11_uc010rol.1_5'Flank	p.I176I	NM_002419	NP_002410	Q16584	M3K11_HUMAN			1	1021	-			176			Protein kinase.		Q6MZN8	Silent	SNP	ENST00000355703.3	37	c.528C>A	CCDS44650.1																																																																																				0.667	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		7	51	1	0	0.00307968	0.0039362	7	51				
RPS6KB2	6199	broad.mit.edu	37	11	67200087	67200087	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:67200087G>A	ENST00000312629.5	+	6	519	c.474G>A	c.(472-474)acG>acA	p.T158T	AP003419.16_ENST00000535922.1_RNA|RPS6KB2_ENST00000524814.1_3'UTR|RPS6KB2_ENST00000539188.1_3'UTR	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	158	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			AGCTCTTCACGCATCTGGAGC	0.567																																						uc001old.2		NA																	0				ovary(2)|central_nervous_system(2)|stomach(1)|lung(1)|salivary_gland(1)	7						c.(472-474)ACG>ACA		ribosomal protein S6 kinase, 70kDa, polypeptide							107.0	126.0	120.0					11																	67200087		2188	4274	6462	SO:0001819	synonymous_variant	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67200087G>A	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.474G>A	11.37:g.67200087G>A						RPS6KB2_uc001olf.2_5'UTR|RPS6KB2_uc001olg.2_Silent_p.T158T|RPS6KB2_uc009yrq.2_5'UTR|RPS6KB2_uc001ole.2_RNA|RPS6KB2_uc001olh.2_RNA|RPS6KB2_uc009yrr.2_Missense_Mutation_p.R23H	p.T158T	NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		6	556	+			158			Protein kinase.		B2RMZ9|B4DML8|O94809|Q9UEC1	Silent	SNP	ENST00000312629.5	37	c.474G>A	CCDS41677.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541956	0.65198	.	.	ENSG00000175634	ENST00000524814	.	.	.	5.43	-10.2	0.00374	.	.	.	.	.	T	0.65821	0.2728	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.79603	-0.1735	5	0.87932	D	0	.	13.5579	0.61770	0.104:0.2931:0.6029:0.0	.	.	.	.	H	109	.	ENSP00000431615:R109H	R	+	2	0	RPS6KB2	66956663	1.000000	0.71417	0.595000	0.28798	0.966000	0.64601	0.499000	0.22546	-1.934000	0.01051	-0.291000	0.09656	CGC		0.567	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		22	74	0	0	0	0	22	74				
PPFIA1	8500	broad.mit.edu	37	11	70208451	70208451	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:70208451G>A	ENST00000253925.7	+	21	2937	c.2722G>A	c.(2722-2724)Ggg>Agg	p.G908R	PPFIA1_ENST00000389547.3_Missense_Mutation_p.G908R|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	908	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CGTGAAAAGCGGGGCCATCAT	0.607																																						uc001opo.2		NA																	0				lung(2)|ovary(1)	3						c.(2722-2724)GGG>AGG		PTPRF interacting protein alpha 1 isoform b							77.0	73.0	74.0					11																	70208451		2200	4294	6494	SO:0001583	missense	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70208451G>A	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2722G>A	11.37:g.70208451G>A	ENSP00000253925:p.Gly908Arg					PPFIA1_uc001opn.1_Missense_Mutation_p.G908R|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opr.2_Missense_Mutation_p.G16R	p.G908R	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		21	2920	+			908			SAM 1.		A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.2722G>A	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894241	0.91889	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950	T;T	0.62941	-0.01;-0.01	5.32	5.32	0.75619	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.82240	0.4994	M	0.85373	2.75	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	0.85156	0.0989	10	0.87932	D	0	.	18.9937	0.92804	0.0:0.0:1.0:0.0	.	405;908;908	F5H1G2;Q13136;Q13136-2	.;LIPA1_HUMAN;.	R	908;908;405	ENSP00000253925:G908R;ENSP00000374198:G908R	ENSP00000253925:G908R	G	+	1	0	PPFIA1	69886099	1.000000	0.71417	0.310000	0.25168	0.701000	0.40568	9.549000	0.98106	2.488000	0.83962	0.561000	0.74099	GGG		0.607	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		24	142	0	0	0	0	24	142				
LAYN	143903	broad.mit.edu	37	11	111428359	111428359	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:111428359G>A	ENST00000375615.3	+	7	961	c.776G>A	c.(775-777)tGt>tAt	p.C259Y	LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000436913.2_Missense_Mutation_p.C106Y|LAYN_ENST00000525126.1_Missense_Mutation_p.C259Y|LAYN_ENST00000375614.2_Missense_Mutation_p.C251Y|LAYN_ENST00000533265.1_Missense_Mutation_p.C251Y	NM_001258390.1	NP_001245319.1	Q6UX15	LAYN_HUMAN	layilin	259						cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|ruffle (GO:0001726)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	Hyaluronan(DB08818)	GTTTGGATCTGTAGAAAAAGG	0.433																																					Ovarian(17;551 586 12136 22082 22900)	uc001plr.1		NA																	0					0						c.(775-777)TGT>TAT		layilin							475.0	460.0	465.0					11																	111428359		2201	4297	6498	SO:0001583	missense	143903					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding	g.chr11:111428359G>A		CCDS31676.1, CCDS58178.1, CCDS58179.1	11q23.1	2006-02-09			ENSG00000204381	ENSG00000204381			29471	protein-coding gene	gene with protein product						15913605	Standard	NM_001258390		Approved	FLJ30977, FLJ31092	uc001plr.2	Q6UX15	OTTHUMG00000166721	ENST00000375615.3:c.776G>A	11.37:g.111428359G>A	ENSP00000364765:p.Cys259Tyr					LAYN_uc001plp.1_Missense_Mutation_p.C251Y|LAYN_uc001plq.1_Missense_Mutation_p.C259Y|LAYN_uc001pls.1_Missense_Mutation_p.C251Y|LAYN_uc010rwg.1_Missense_Mutation_p.C106Y|LAYN_uc010rwh.1_Missense_Mutation_p.C107Y	p.C259Y	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	7	1112	+		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)	259			Cytoplasmic (Potential).		A6NJB0|B4DJU0|Q8TAY8|Q96NC5|Q96NF3	Missense_Mutation	SNP	ENST00000375615.3	37	c.776G>A	CCDS58178.1	.	.	.	.	.	.	.	.	.	.	G	4.203	0.036480	0.08148	.	.	ENSG00000204381	ENST00000375614;ENST00000375615;ENST00000525126;ENST00000436913;ENST00000533265;ENST00000541011;ENST00000530962	T;T;T;T	0.06068	3.88;3.48;3.35;4.05	6.05	-0.689	0.11313	.	1.182920	0.05517	N	0.561342	T	0.04452	0.0122	L	0.38838	1.175	0.22666	N	0.998875	B;B;B;B;B	0.10296	0.003;0.001;0.0;0.001;0.001	B;B;B;B;B	0.06405	0.002;0.002;0.0;0.002;0.001	T	0.44221	-0.9342	10	0.09338	T	0.73	-0.0785	1.5983	0.02669	0.3456:0.2219:0.3191:0.1134	.	106;251;259;259;251	B4DJU0;E9PMI0;Q6UX15;E9PQU7;Q6UX15-2	.;.;LAYN_HUMAN;.;.	Y	251;259;259;106;251;214;107	ENSP00000364764:C251Y;ENSP00000364765:C259Y;ENSP00000434328:C259Y;ENSP00000434972:C251Y	ENSP00000364764:C251Y	C	+	2	0	LAYN	110933569	0.029000	0.19370	0.134000	0.22075	0.250000	0.25880	-0.457000	0.06745	-0.104000	0.12154	0.650000	0.86243	TGT		0.433	LAYN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391187.1	NM_178834		40	422	0	0	0	0	40	422				
CRTAM	56253	broad.mit.edu	37	11	122720855	122720855	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:122720855G>A	ENST00000227348.4	+	2	173	c.126G>A	c.(124-126)ctG>ctA	p.L42L		NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule											breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TCACTTCTCTGAGGAAGAACT	0.483																																						uc001pyj.2		NA																	0				ovary(1)	1						c.(124-126)CTG>CTA		class-I MHC-restricted T cell associated							98.0	96.0	97.0					11																	122720855		2202	4299	6501	SO:0001819	synonymous_variant	56253				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding	g.chr11:122720855G>A	AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24313	protein-coding gene	gene with protein product	"""class I MHC restricted T cell associated molecule"""	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.126G>A	11.37:g.122720855G>A							p.L42L	NM_019604	NP_062550	O95727	CRTAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	2	126	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	42			Ig-like V-type.|Extracellular (Potential).			Silent	SNP	ENST00000227348.4	37	c.126G>A	CCDS8437.1																																																																																				0.483	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387507.1	NM_019604		22	29	0	0	0	0	22	29				
C12orf4	57102	broad.mit.edu	37	12	4639069	4639069	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:4639069C>T	ENST00000261250.3	-	4	559	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	C12orf4_ENST00000545746.1_Missense_Mutation_p.E158K	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	158										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ACATCTCTTTCACCAATCAGT	0.343																																						uc001qms.2		NA																	0					0						c.(472-474)GAA>AAA		hypothetical protein LOC57102							80.0	84.0	83.0					12																	4639069		2203	4300	6503	SO:0001583	missense	57102							g.chr12:4639069C>T	AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.472G>A	12.37:g.4639069C>T	ENSP00000261250:p.Glu158Lys					C12orf4_uc001qmt.2_Missense_Mutation_p.E158K	p.E158K	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)	4	560	-			158					D3DUQ8|Q6MZH5	Missense_Mutation	SNP	ENST00000261250.3	37	c.472G>A	CCDS8528.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913136	0.72983	.	.	ENSG00000047621	ENST00000261250;ENST00000545746;ENST00000542080	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.52661	0.1748	L	0.46157	1.445	0.80722	D	1	P	0.43231	0.801	B	0.40741	0.339	T	0.46048	-0.9219	9	0.15952	T	0.53	.	18.1846	0.89789	0.0:1.0:0.0:0.0	.	158	Q9NQ89	CL004_HUMAN	K	158;158;111	.	ENSP00000261250:E158K	E	-	1	0	C12orf4	4509330	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.338000	0.79269	2.804000	0.96469	0.650000	0.86243	GAA		0.343	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1	NM_020374		12	59	0	0	0	0	12	59				
SLC2A3	6515	broad.mit.edu	37	12	8074141	8074141	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:8074141G>A	ENST00000075120.7	-	10	1599	c.1359C>T	c.(1357-1359)acC>acT	p.T453T	SLC2A3_ENST00000543435.1_5'Flank	NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	453					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TCCTGCCACGGGTCTCAGGGA	0.488																																					Colon(96;424 1461 14416 20933 23688)	uc001qtr.2		NA																	0				ovary(3)|pancreas(1)	4						c.(1357-1359)ACC>ACT		solute carrier family 2 (facilitated glucose							96.0	96.0	96.0					12																	8074141		2203	4300	6503	SO:0001819	synonymous_variant	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8074141G>A	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.1359C>T	12.37:g.8074141G>A							p.T453T	NM_006931	NP_008862	P11169	GTR3_HUMAN		Kidney(36;0.0866)	10	1621	-			453			Cytoplasmic (Potential).		B2R606|D3DUU6|Q6I9U2|Q9UG15	Silent	SNP	ENST00000075120.7	37	c.1359C>T	CCDS8586.1																																																																																				0.488	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		21	79	0	0	0	0	21	79				
ATF7IP	55729	broad.mit.edu	37	12	14578131	14578131	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:14578131G>T	ENST00000540793.1	+	1	1437	c.1282G>T	c.(1282-1284)Gac>Tac	p.D428Y	ATF7IP_ENST00000261168.4_Missense_Mutation_p.D428Y|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D428Y|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000544627.1_Missense_Mutation_p.D436Y|ATF7IP_ENST00000536444.1_Missense_Mutation_p.D428Y			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	428	Glu-rich.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AGAAAATACAGACTCTATGGA	0.333																																						uc001rbw.2		NA																	0				lung(3)|ovary(1)|skin(1)	5						c.(1282-1284)GAC>TAC		activating transcription factor 7 interacting							59.0	61.0	60.0					12																	14578131		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14578131G>T	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1282G>T	12.37:g.14578131G>T	ENSP00000444589:p.Asp428Tyr					ATF7IP_uc010shs.1_Missense_Mutation_p.D428Y|ATF7IP_uc001rbu.2_Missense_Mutation_p.D428Y|ATF7IP_uc001rbv.1_Missense_Mutation_p.D428Y|ATF7IP_uc001rbx.2_Missense_Mutation_p.D428Y|ATF7IP_uc010sht.1_Missense_Mutation_p.D428Y|ATF7IP_uc001rby.3_Missense_Mutation_p.D428Y|ATF7IP_uc001rbz.1_Missense_Mutation_p.D428Y|ATF7IP_uc001rca.2_Missense_Mutation_p.D428Y|ATF7IP_uc001rcb.2_Missense_Mutation_p.D39Y	p.D428Y	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			2	1440	+			428			Glu-rich.		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.1282G>T	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985018	0.74474	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000396279;ENST00000540793	T;T;T;T;T;T	0.38722	1.49;1.5;1.49;1.49;1.12;1.49	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000018	T	0.63674	0.2531	L	0.59436	1.845	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.83275	0.996;0.995;0.987;0.987;0.987;0.995;0.995	T	0.65348	-0.6190	10	0.87932	D	0	-21.5857	19.4409	0.94820	0.0:0.0:1.0:0.0	.	436;428;436;428;428;428;39	B4E2A2;B4DRL6;F5GX74;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;.;MCAF1_HUMAN;.;.	Y	428;428;428;436;428;428	ENSP00000261168:D428Y;ENSP00000443179:D428Y;ENSP00000445955:D428Y;ENSP00000440440:D436Y;ENSP00000379575:D428Y;ENSP00000444589:D428Y	ENSP00000261168:D428Y	D	+	1	0	ATF7IP	14469398	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.716000	0.74702	2.649000	0.89929	0.591000	0.81541	GAC		0.333	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		9	49	1	0	0.00448238	0.00572195	9	49				
C12orf60	144608	broad.mit.edu	37	12	14976214	14976214	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:14976214C>G	ENST00000330828.2	+	2	549	c.345C>G	c.(343-345)ttC>ttG	p.F115L	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	115										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						AAGAAGTATTCAAAAGTGCCC	0.433																																						uc001rcj.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(343-345)TTC>TTG		hypothetical protein LOC144608							154.0	151.0	152.0					12																	14976214		2203	4300	6503	SO:0001583	missense	144608							g.chr12:14976214C>G	BC038836	CCDS8667.1	12p12.3	2012-08-16			ENSG00000182993	ENSG00000182993			28726	protein-coding gene	gene with protein product						12477932	Standard	NM_175874		Approved	MGC47869	uc001rcj.4	Q5U649	OTTHUMG00000167473	ENST00000330828.2:c.345C>G	12.37:g.14976214C>G	ENSP00000331691:p.Phe115Leu						p.F115L	NM_175874	NP_787070	Q5U649	CL060_HUMAN			2	549	+			115					A8K1M7|Q5XKK8|Q8IXY2	Missense_Mutation	SNP	ENST00000330828.2	37	c.345C>G	CCDS8667.1	.	.	.	.	.	.	.	.	.	.	C	9.510	1.105561	0.20632	.	.	ENSG00000182993	ENST00000330828	T	0.11930	2.73	4.62	-6.33	0.01988	.	0.652015	0.13595	N	0.376270	T	0.03564	0.0102	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.40251	-0.9573	10	0.05351	T	0.99	-10.3571	1.1266	0.01736	0.4313:0.1581:0.1067:0.3039	.	115	Q5U649	CL060_HUMAN	L	115	ENSP00000331691:F115L	ENSP00000331691:F115L	F	+	3	2	C12orf60	14867481	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.321000	0.02697	-1.360000	0.02172	0.561000	0.74099	TTC		0.433	C12orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394735.1	NM_175874		25	75	0	0	0	0	25	75				
DDX11	1663	broad.mit.edu	37	12	31255377	31255377	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:31255377G>C	ENST00000407793.2	+	23	2539	c.2288G>C	c.(2287-2289)aGa>aCa	p.R763T	DDX11_ENST00000542838.1_Missense_Mutation_p.R763T|DDX11_ENST00000545668.1_Missense_Mutation_p.R763T|DDX11_ENST00000228264.6_Missense_Mutation_p.R737T|DDX11_ENST00000350437.4_Missense_Mutation_p.R713T|DDX11_ENST00000251758.5_3'UTR	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	763					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)					GGCCAGGAGAGAGGCCAGGTG	0.562										Multiple Myeloma(12;0.14)																												uc001rjt.1		NA																	0				breast(3)	3						c.(2287-2289)AGA>ACA		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11							71.0	80.0	77.0					12																	31255377		2202	4300	6502	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.chr12:31255377G>C	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.2288G>C	12.37:g.31255377G>C	ENSP00000384703:p.Arg763Thr	Multiple Myeloma(12;0.14)				DDX11_uc001rjr.1_Missense_Mutation_p.R763T|DDX11_uc001rjs.1_Missense_Mutation_p.R713T|DDX11_uc001rju.1_Missense_Mutation_p.R435T|DDX11_uc001rjv.1_Missense_Mutation_p.R763T|DDX11_uc001rjw.1_Missense_Mutation_p.R737T|DDX11_uc009zjn.1_RNA|DDX11_uc009zjo.1_5'UTR	p.R763T	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN			23	2539	+	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)		763					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.2288G>C	CCDS44856.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.738|0.738	-0.777494|-0.777494	0.02929|0.02929	.|.	.|.	ENSG00000013573|ENSG00000013573	ENST00000539702|ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437	.|D;T;T;T;T	.|0.81659	.|-1.52;-0.69;-1.42;-0.69;-1.19	3.55|3.55	-0.751|-0.751	0.11076|0.11076	.|Helicase, ATP-dependent, c2 type (1);	.|0.770782	.|0.12831	.|N	.|0.435624	T|T	0.67618|0.67618	0.2912|0.2912	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.28350	.|0.06;0.208;0.006;0.06	.|B;B;B;B	.|0.30251	.|0.048;0.113;0.023;0.048	T|T	0.51244|0.51244	-0.8730|-0.8730	5|10	.|0.13853	.|T	.|0.58	.|.	4.5768|4.5768	0.12238|0.12238	0.3269:0.1759:0.4971:0.0|0.3269:0.1759:0.4971:0.0	.|.	.|737;763;713;763	.|Q96FC9-3;Q96FC9;Q96FC9-4;Q96FC9-2	.|.;DDX11_HUMAN;.;.	Q|T	29|763;763;488;737;763;713	.|ENSP00000443426:R763T;ENSP00000384703:R763T;ENSP00000228264:R737T;ENSP00000440402:R763T;ENSP00000309965:R713T	.|ENSP00000228264:R737T	E|R	+|+	1|2	0|0	DDX11|DDX11	31146644|31146644	0.141000|0.141000	0.22595|0.22595	0.000000|0.000000	0.03702|0.03702	0.034000|0.034000	0.12701|0.12701	0.412000|0.412000	0.21131|0.21131	-0.291000|-0.291000	0.09012|0.09012	-0.216000|-0.216000	0.12614|0.12614	GAG|AGA		0.562	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		28	98	0	0	0	0	28	98				
OR6C76	390326	broad.mit.edu	37	12	55820433	55820433	+	Silent	SNP	C	C	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:55820433C>A	ENST00000328314.3	+	1	396	c.396C>A	c.(394-396)atC>atA	p.I132I		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATACAACCATCATGAGTGACA	0.433																																						uc010spm.1		NA																	0					0						c.(394-396)ATC>ATA		olfactory receptor, family 6, subfamily C,							93.0	95.0	94.0					12																	55820433		2203	4299	6502	SO:0001819	synonymous_variant	390326				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55820433C>A		CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.396C>A	12.37:g.55820433C>A							p.I132I	NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN			1	396	+			132			Cytoplasmic (Potential).			Silent	SNP	ENST00000328314.3	37	c.396C>A	CCDS31823.1																																																																																				0.433	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1	NM_001005183		22	108	1	0	3.77e-24	5.21e-24	22	108				
ITGA7	3679	broad.mit.edu	37	12	56096885	56096885	+	Missense_Mutation	SNP	G	G	A	rs143749139	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:56096885G>A	ENST00000555728.1	-	2	312	c.284C>T	c.(283-285)cCg>cTg	p.P95L	ITGA7_ENST00000394229.2_Missense_Mutation_p.P95L|ITGA7_ENST00000452168.2_Intron|ITGA7_ENST00000553804.1_Missense_Mutation_p.P95L|ITGA7_ENST00000257879.6_Missense_Mutation_p.P95L|ITGA7_ENST00000394230.2_Missense_Mutation_p.P95L|ITGA7_ENST00000347027.6_Missense_Mutation_p.P95L|ITGA7_ENST00000257880.7_Missense_Mutation_p.P95L			Q13683	ITA7_HUMAN	integrin, alpha 7	95					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CAGGCTCAACGGGCAAGCGAA	0.652													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18495	0.0		0.0	False		,,,				2504	0.0					uc001shh.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(283-285)CCG>CTG		integrin alpha 7 isoform 1 precursor		G	LEU/PRO,,LEU/PRO	10,4396	16.8+/-37.8	0,10,2193	88.0	80.0	82.0		284,,284	4.3	1.0	12	dbSNP_134	82	0,8600		0,0,4300	yes	missense,intron,missense	ITGA7	NM_001144996.1,NM_001144997.1,NM_002206.2	98,,98	0,10,6493	AA,AG,GG		0.0,0.227,0.0769	probably-damaging,,probably-damaging	95/1142,,95/1138	56096885	10,12996	2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56096885G>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.284C>T	12.37:g.56096885G>A	ENSP00000452387:p.Pro95Leu					ITGA7_uc001shg.2_Missense_Mutation_p.P95L|ITGA7_uc010sps.1_Intron|ITGA7_uc009znx.2_5'Flank	p.P95L	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN			2	504	-			95			FG-GAP 1.|Extracellular (Potential).		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.284C>T		2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	17.85	3.489966	0.64074	0.00227	0.0	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	D;D;D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98;-2.98;-2.98	4.35	4.35	0.52113	.	0.000000	0.64402	D	0.000003	D	0.96374	0.8817	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.927;0.999	D	0.96880	0.9645	10	0.72032	D	0.01	.	14.7775	0.69740	0.0:0.0:1.0:0.0	.	95;158	Q13683-3;Q4LE35	.;.	L	95	ENSP00000452120:P95L;ENSP00000257879:P95L;ENSP00000343009:P95L;ENSP00000257880:P95L;ENSP00000377777:P95L;ENSP00000377776:P95L;ENSP00000452387:P95L	ENSP00000257879:P95L	P	-	2	0	ITGA7	54383152	1.000000	0.71417	0.988000	0.46212	0.410000	0.31052	4.141000	0.58038	2.430000	0.82344	0.491000	0.48974	CCG		0.652	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		19	61	0	0	0	0	19	61				
ESYT1	23344	broad.mit.edu	37	12	56522298	56522298	+	Silent	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:56522298G>C	ENST00000394048.5	+	1	459	c.195G>C	c.(193-195)ctG>ctC	p.L65L	RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA|ESYT1_ENST00000541590.1_Silent_p.L65L|ESYT1_ENST00000267113.4_Silent_p.L65L	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	65					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGCTGGTGCTGATACCTGTGT	0.672																																						uc001sjq.2		NA																	0				ovary(4)|skin(1)	5						c.(193-195)CTG>CTC		extended synaptotagmin-like protein 1							164.0	160.0	161.0					12																	56522298		2202	4300	6502	SO:0001819	synonymous_variant	23344					integral to membrane		g.chr12:56522298G>C	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.195G>C	12.37:g.56522298G>C						ESYT1_uc001sjr.2_Silent_p.L65L	p.L65L	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN			1	245	+			65			Helical; (Potential).		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Silent	SNP	ENST00000394048.5	37	c.195G>C	CCDS8904.1																																																																																				0.672	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		5	15	0	0	0	0	5	15				
AGAP2	116986	broad.mit.edu	37	12	58128428	58128428	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:58128428G>A	ENST00000547588.1	-	3	1261	c.1262C>T	c.(1261-1263)tCg>tTg	p.S421L	AGAP2_ENST00000257897.3_Missense_Mutation_p.S85L	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	421	G domain.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GTGGATGAGCGATGACTTCCC	0.537																																						uc001spq.2		NA																	0				central_nervous_system(3)|breast(2)	5						c.(1261-1263)TCG>TTG		centaurin, gamma 1 isoform PIKE-L							182.0	178.0	179.0					12																	58128428		2203	4300	6503	SO:0001583	missense	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58128428G>A	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.1262C>T	12.37:g.58128428G>A	ENSP00000449241:p.Ser421Leu					AGAP2_uc001spp.2_Missense_Mutation_p.S421L|AGAP2_uc001spr.2_Missense_Mutation_p.S85L	p.S421L	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN			3	1262	-			421			G domain.		A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	c.1262C>T	CCDS44932.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807143	0.90623	.	.	ENSG00000135439	ENST00000257897;ENST00000547588	T;T	0.77229	-1.08;-1.08	5.35	5.35	0.76521	Mitochondrial Rho-like (1);	0.398870	0.24061	N	0.041914	D	0.88665	0.6498	M	0.83223	2.63	0.50632	D	0.999882	D;D;D	0.89917	1.0;0.999;1.0	P;D;D	0.74674	0.905;0.965;0.984	D	0.89889	0.4036	10	0.87932	D	0	.	16.3575	0.83241	0.0:0.0:1.0:0.0	.	85;421;421	Q99490-2;F8VVT9;Q99490	.;.;AGAP2_HUMAN	L	85;421	ENSP00000257897:S85L;ENSP00000449241:S421L	ENSP00000257897:S85L	S	-	2	0	AGAP2	56414695	1.000000	0.71417	0.957000	0.39632	0.967000	0.64934	7.995000	0.88328	2.676000	0.91093	0.655000	0.94253	TCG		0.537	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		51	151	0	0	0	0	51	151				
PTPRB	5787	broad.mit.edu	37	12	70963581	70963581	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:70963581G>A	ENST00000261266.5	-	12	2883	c.2854C>T	c.(2854-2856)Cag>Tag	p.Q952*	PTPRB_ENST00000451516.2_Nonsense_Mutation_p.Q862*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.Q862*|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.Q952*|PTPRB_ENST00000334414.6_Nonsense_Mutation_p.Q1170*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.Q1082*|PTPRB_ENST00000551525.1_Nonsense_Mutation_p.Q1169*	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	952	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGAATAGTCTGAGAGTCAACC	0.547																																						uc001swb.3		NA																	0				lung(2)|skin(1)	3						c.(2854-2856)CAG>TAG		protein tyrosine phosphatase, receptor type, B							96.0	96.0	96.0					12																	70963581		2084	4209	6293	SO:0001587	stop_gained	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70963581G>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.2854C>T	12.37:g.70963581G>A	ENSP00000261266:p.Gln952*					PTPRB_uc010sto.1_Nonsense_Mutation_p.Q952*|PTPRB_uc010stp.1_Nonsense_Mutation_p.Q862*|PTPRB_uc001swc.3_Nonsense_Mutation_p.Q1170*|PTPRB_uc001swa.3_Nonsense_Mutation_p.Q1082*|PTPRB_uc001swd.3_Nonsense_Mutation_p.Q1169*|PTPRB_uc009zrr.1_Nonsense_Mutation_p.Q1049*	p.Q952*	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		12	2884	-	Renal(347;0.236)		952			Fibronectin type-III 11.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Nonsense_Mutation	SNP	ENST00000261266.5	37	c.2854C>T	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	G	36	5.898490	0.97081	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	.	.	.	5.45	5.45	0.79879	.	0.204889	0.46145	D	0.000301	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	15.9965	0.80250	0.0:0.0:0.865:0.135	.	.	.	.	X	1170;862;1082;952;862;952;1169;1049	.	ENSP00000261266:Q952X	Q	-	1	0	PTPRB	69249848	1.000000	0.71417	0.784000	0.31847	0.030000	0.12068	4.721000	0.61951	2.711000	0.92665	0.544000	0.68410	CAG		0.547	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			12	55	0	0	0	0	12	55				
NAV3	89795	broad.mit.edu	37	12	78574787	78574787	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:78574787C>G	ENST00000397909.2	+	30	5827	c.5654C>G	c.(5653-5655)tCt>tGt	p.S1885C	NAV3_ENST00000266692.7_Missense_Mutation_p.S1686C|NAV3_ENST00000228327.6_Missense_Mutation_p.S1863C|NAV3_ENST00000536525.2_Missense_Mutation_p.S1863C|NAV3_ENST00000552300.1_3'UTR			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1885	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTAGGACTTTCTCTAAACAAT	0.483										HNSCC(70;0.22)																												uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(5653-5655)TCT>TGT		neuron navigator 3							113.0	114.0	114.0					12																	78574787		1996	4166	6162	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78574787C>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5654C>G	12.37:g.78574787C>G	ENSP00000381007:p.Ser1885Cys	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.S1863C|NAV3_uc010sub.1_Missense_Mutation_p.S1342C|NAV3_uc009zsf.2_Missense_Mutation_p.S694C	p.S1885C	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			30	5827	+			1885			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.5654C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.676956|4.676956	0.88445|0.88445	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	.|T;T;T;T;T	.|0.32515	.|1.49;1.47;1.49;1.45;2.32	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|0.000000	.|0.38778	.|U	.|0.001578	T|T	0.57961|0.57961	0.2089|0.2089	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0	.|D;D;D;D	.|0.87578	.|0.99;0.995;0.998;0.997	T|T	0.55579|0.55579	-0.8119|-0.8119	5|10	.|0.66056	.|D	.|0.02	-13.1303|-13.1303	20.547|20.547	0.99278|0.99278	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1863;1686;1885;1863	.|E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.|.;.;NAV3_HUMAN;.	L|C	757|1863;1885;1863;1686;477;485	.|ENSP00000446132:S1863C;ENSP00000381007:S1885C;ENSP00000228327:S1863C;ENSP00000266692:S1686C;ENSP00000448303:S485C	.|ENSP00000228327:S1863C	F|S	+|+	3|2	2|0	NAV3|NAV3	77098918|77098918	1.000000|1.000000	0.71417|0.71417	0.775000|0.775000	0.31657|0.31657	0.862000|0.862000	0.49288|0.49288	7.487000|7.487000	0.81328|0.81328	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	TTC|TCT		0.483	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		21	89	0	0	0	0	21	89				
METAP2	10988	broad.mit.edu	37	12	95868071	95868071	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:95868071G>C	ENST00000323666.5	+	1	345	c.116G>C	c.(115-117)aGa>aCa	p.R39T	METAP2_ENST00000261220.9_Missense_Mutation_p.R39T|METAP2_ENST00000550777.1_Missense_Mutation_p.R39T|METAP2_ENST00000546753.1_Missense_Mutation_p.R39T|METAP2_ENST00000551840.1_Missense_Mutation_p.R39T	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						AAGAAAAAAAGACGAAAGAAG	0.557																																						uc001tec.2		NA																	0					0						c.(115-117)AGA>ACA		methionyl aminopeptidase 2	L-Methionine(DB00134)						69.0	85.0	80.0					12																	95868071		2203	4300	6503	SO:0001583	missense	10988				N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr12:95868071G>C	U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"""Peptidase M"""	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	ENST00000323666.5:c.116G>C	12.37:g.95868071G>C	ENSP00000325312:p.Arg39Thr					METAP2_uc010suv.1_Missense_Mutation_p.R39T|METAP2_uc009ztd.2_Missense_Mutation_p.R39T|METAP2_uc001ted.2_Missense_Mutation_p.R39T|METAP2_uc001tef.2_Missense_Mutation_p.R39T|METAP2_uc001tee.2_RNA	p.R39T	NM_006838	NP_006829	P50579	AMPM2_HUMAN			1	250	+			39			Arg/Lys-rich (basic).			Missense_Mutation	SNP	ENST00000323666.5	37	c.116G>C	CCDS9052.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151140	0.57151	.	.	ENSG00000111142	ENST00000323666;ENST00000546753;ENST00000261220;ENST00000549502;ENST00000553151;ENST00000550777;ENST00000551840	.	.	.	5.05	2.21	0.28008	.	0.193496	0.42682	D	0.000670	T	0.16854	0.0405	N	0.08118	0	0.29080	N	0.882775	B;P;P;P;P	0.51933	0.005;0.597;0.949;0.949;0.915	B;B;P;P;B	0.47251	0.009;0.402;0.542;0.542;0.341	T	0.05484	-1.0882	9	0.35671	T	0.21	-11.8425	6.4762	0.22037	0.2971:0.0:0.7029:0.0	.	39;39;39;39;39	B4DUX5;F8VRR3;G3XA91;F8VQZ7;P50579	.;.;.;.;AMPM2_HUMAN	T	39	.	ENSP00000261220:R39T	R	+	2	0	METAP2	94392202	0.996000	0.38824	1.000000	0.80357	0.901000	0.52897	1.560000	0.36331	0.649000	0.30751	0.561000	0.74099	AGA		0.557	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408296.1	NM_006838		15	68	0	0	0	0	15	68				
CFAP54	144535	broad.mit.edu	37	12	97078851	97078851	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:97078851G>C	ENST00000524981.4	+	42	5872	c.5849G>C	c.(5848-5850)aGa>aCa	p.R1950T				Q96N23	CL055_HUMAN		87								p.R375K(1)									GACATATTCAGAAAACCAGAC	0.433																																						uc001tet.1		NA																	1	Substitution - Missense(1)		skin(1)	skin(6)|ovary(1)	7						c.(1123-1125)AGA>ACA		hypothetical protein LOC374467							97.0	88.0	91.0					12																	97078851		2203	4300	6503	SO:0001583	missense	374467							g.chr12:97078851G>C																												ENST00000524981.4:c.5849G>C	12.37:g.97078851G>C	ENSP00000431759:p.Arg1950Thr						p.R375T	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			9	1202	+			375						Missense_Mutation	SNP	ENST00000524981.4	37	c.1124G>C		.	.	.	.	.	.	.	.	.	.	G	13.63	2.295635	0.40594	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.87	4.03	0.46877	.	0.319093	0.34460	N	0.003942	T	0.34395	0.0896	L	0.53249	1.67	0.29694	N	0.840662	P	0.38504	0.634	B	0.39465	0.3	T	0.18493	-1.0335	9	0.17369	T	0.5	-12.9142	7.1479	0.25593	0.3236:0.0:0.6763:0.0	.	375	Q6ZTY8	CL063_HUMAN	T	1950;375	.	ENSP00000345466:R375T	R	+	2	0	C12orf63	95602982	0.991000	0.36638	0.991000	0.47740	0.791000	0.44710	2.284000	0.43478	1.627000	0.50400	0.655000	0.94253	AGA		0.433	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			8	32	0	0	0	0	8	32				
ANKS1B	56899	broad.mit.edu	37	12	99793498	99793498	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:99793498C>T	ENST00000547776.2	-	12	1666	c.1667G>A	c.(1666-1668)tGc>tAc	p.C556Y	ANKS1B_ENST00000547010.1_Missense_Mutation_p.C136Y|ANKS1B_ENST00000329257.7_Missense_Mutation_p.C556Y	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	556						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AAAGCTTGTGCACCCTGTAGA	0.428																																						uc001tge.1		NA																	0					0						c.(1666-1668)TGC>TAC		cajalin 2 isoform a							200.0	216.0	211.0					12																	99793498		1896	4124	6020	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99793498C>T	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1667G>A	12.37:g.99793498C>T	ENSP00000449629:p.Cys556Tyr					ANKS1B_uc001tgf.1_Missense_Mutation_p.C136Y|ANKS1B_uc009ztt.1_Missense_Mutation_p.C522Y	p.C556Y	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	12	2084	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	556					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.1667G>A	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.451047	0.01080	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000549866	T;T;T;T	0.58060	1.12;0.36;1.12;1.03	5.73	3.8	0.43715	.	0.284307	0.35436	N	0.003203	T	0.22781	0.0550	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.06162	-1.0842	9	.	.	.	-6.5987	4.9601	0.14061	0.1686:0.661:0.0:0.1704	.	522;136;556	F8VVQ4;Q7Z6G8-6;Q7Z6G8	.;.;ANS1B_HUMAN	Y	556;136;556;135;522	ENSP00000449629:C556Y;ENSP00000448512:C136Y;ENSP00000331381:C556Y;ENSP00000449894:C522Y	.	C	-	2	0	ANKS1B	98317629	0.961000	0.32948	0.921000	0.36526	0.621000	0.37620	1.402000	0.34600	1.423000	0.47198	0.585000	0.79938	TGC		0.428	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		25	74	0	0	0	0	25	74				
NAA25	80018	broad.mit.edu	37	12	112492367	112492367	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:112492367C>T	ENST00000261745.4	-	14	1701	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	485						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ACAGTGGTCTCATCACCTAGA	0.433																																						uc001ttm.2		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(1453-1455)GAG>AAG		mitochondrial distribution and morphology 20							76.0	63.0	68.0					12																	112492367		2203	4300	6503	SO:0001583	missense	80018					cytoplasm	protein binding	g.chr12:112492367C>T	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1453G>A	12.37:g.112492367C>T	ENSP00000261745:p.Glu485Lys					NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.E457K|NAA25_uc009zwa.1_Missense_Mutation_p.E485K	p.E485K	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN			14	1473	-			485					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	c.1453G>A	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665297	0.47677	.	.	ENSG00000111300	ENST00000261745	T	0.42900	0.96	5.5	5.5	0.81552	Tetratricopeptide-like helical (1);	0.108090	0.64402	D	0.000008	T	0.38532	0.1044	L	0.55481	1.735	0.49582	D	0.999805	B;B	0.32653	0.379;0.379	B;B	0.31946	0.138;0.089	T	0.29912	-0.9996	10	0.06236	T	0.91	-14.9009	19.3927	0.94590	0.0:1.0:0.0:0.0	.	485;485	A8K8X0;Q14CX7	.;NAA25_HUMAN	K	485	ENSP00000261745:E485K	ENSP00000261745:E485K	E	-	1	0	NAA25	110976750	0.998000	0.40836	0.967000	0.41034	0.951000	0.60555	3.450000	0.52957	2.578000	0.87016	0.655000	0.94253	GAG		0.433	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		9	15	0	0	0	0	9	15				
HECTD4	283450	broad.mit.edu	37	12	112605283	112605283	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:112605283G>A	ENST00000430131.2	-	71	12251	c.11106C>T	c.(11104-11106)ttC>ttT	p.F3702F	HECTD4_ENST00000550722.1_Silent_p.F3978F|HECTD4_ENST00000377560.5_Silent_p.F3952F			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3702	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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)										GCTGCCCCAGGAAGTGCAGCA	0.662																																						uc009zwc.2		NA																	0				ovary(1)|lung(1)	2						c.(11104-11106)TTC>TTT		chromosome 12 open reading frame 51							42.0	48.0	46.0					12																	112605283		1975	4143	6118	SO:0001819	synonymous_variant	283450							g.chr12:112605283G>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.11106C>T	12.37:g.112605283G>A							p.F3702F	NM_001109662	NP_001103132					65	11124	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.11106C>T																																																																																					0.662	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		14	43	0	0	0	0	14	43				
EP400	57634	broad.mit.edu	37	12	132554096	132554096	+	Silent	SNP	G	G	A	rs373215107		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:132554096G>A	ENST00000333577.4	+	52	9148	c.9039G>A	c.(9037-9039)gcG>gcA	p.A3013A	EP400_ENST00000330386.6_Silent_p.A2896A|EP400_ENST00000389562.2_Silent_p.A2976A|EP400_ENST00000332482.4_Silent_p.A2940A|EP400_ENST00000389561.2_Silent_p.A2977A			Q96L91	EP400_HUMAN	E1A binding protein p400	3013					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCTACGCCGCGCAGCCGGCCC	0.647																																						uc001ujn.2		NA																	0				central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(8929-8931)GCG>GCA		E1A binding protein p400		G		1,4405	2.1+/-5.4	0,1,2202	70.0	71.0	71.0		8931	1.2	0.8	12		71	0,8600		0,0,4300	no	coding-synonymous	EP400	NM_015409.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		2977/3124	132554096	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132554096G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.9039G>A	12.37:g.132554096G>A						EP400_uc001ujl.2_Silent_p.A2976A|EP400_uc001ujm.2_Silent_p.A2896A|EP400_uc001ujp.2_Silent_p.A187A	p.A2977A	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	50	8966	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	3013					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8931G>A																																																																																					0.647	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		18	106	0	0	0	0	18	106				
MPHOSPH8	54737	broad.mit.edu	37	13	20235942	20235942	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr13:20235942G>T	ENST00000361479.5	+	8	1964	c.1896G>T	c.(1894-1896)aaG>aaT	p.K632N	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.K632N	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	632					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GTCGGCAGAAGAACGGGACCA	0.562																																						uc001umh.2		NA																	0					0						c.(1894-1896)AAG>AAT		M-phase phosphoprotein 8							100.0	93.0	96.0					13																	20235942		2203	4300	6503	SO:0001583	missense	54737				cell cycle	cytoplasm|nucleus		g.chr13:20235942G>T	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1896G>T	13.37:g.20235942G>T	ENSP00000355388:p.Lys632Asn					MPHOSPH8_uc001umg.2_Missense_Mutation_p.K632N	p.K632N	NM_017520	NP_059990	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	8	1905	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	632					B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	c.1896G>T	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818005	0.32145	.	.	ENSG00000196199	ENST00000414242;ENST00000361479	T;T	0.65549	-0.16;-0.16	6.08	-0.414	0.12359	Ankyrin repeat-containing domain (4);	0.167315	0.52532	D	0.000071	T	0.56587	0.1995	N	0.20401	0.57	0.45161	D	0.998172	D;D	0.63880	0.993;0.992	D;D	0.68039	0.955;0.925	T	0.51576	-0.8688	10	0.34782	T	0.22	.	6.6128	0.22761	0.5199:0.1261:0.354:0.0	.	632;632	Q99549;Q99549-2	MPP8_HUMAN;.	N	632	ENSP00000414663:K632N;ENSP00000355388:K632N	ENSP00000355388:K632N	K	+	3	2	MPHOSPH8	19133942	1.000000	0.71417	0.851000	0.33527	0.315000	0.28087	2.048000	0.41278	-0.037000	0.13646	-1.094000	0.02160	AAG		0.562	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		33	76	1	0	5.92e-21	8.17e-21	33	76				
MTMR6	9107	broad.mit.edu	37	13	25840348	25840348	+	Silent	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr13:25840348G>C	ENST00000381801.5	-	4	1142	c.381C>G	c.(379-381)ctC>ctG	p.L127L	MTMR6_ENST00000540661.1_Silent_p.L127L	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	127	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		CGAGATCAATGAGCTGCCAGC	0.393																																						uc001uqf.3		NA																	0				ovary(2)|skin(2)	4						c.(379-381)CTC>CTG		myotubularin related protein 6							100.0	92.0	95.0					13																	25840348		2203	4300	6503	SO:0001819	synonymous_variant	9107					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr13:25840348G>C	AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.381C>G	13.37:g.25840348G>C						MTMR6_uc001uqe.1_Silent_p.L127L	p.L127L	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)	4	700	-		Lung SC(185;0.0225)|Breast(139;0.0351)	127			Myotubularin phosphatase.		B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Silent	SNP	ENST00000381801.5	37	c.381C>G	CCDS9313.1																																																																																				0.393	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685		12	23	0	0	0	0	12	23				
MTMR6	9107	broad.mit.edu	37	13	25842002	25842002	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr13:25842002C>G	ENST00000381801.5	-	3	980	c.219G>C	c.(217-219)aaG>aaC	p.K73N	MTMR6_ENST00000540661.1_Missense_Mutation_p.K73N	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	73					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TTCTGAAGTTCTTGCACTGTA	0.393																																						uc001uqf.3		NA																	0				ovary(2)|skin(2)	4						c.(217-219)AAG>AAC		myotubularin related protein 6							142.0	129.0	134.0					13																	25842002		2203	4300	6503	SO:0001583	missense	9107					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr13:25842002C>G	AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.219G>C	13.37:g.25842002C>G	ENSP00000371221:p.Lys73Asn					MTMR6_uc001uqe.1_Missense_Mutation_p.K73N	p.K73N	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)	3	538	-		Lung SC(185;0.0225)|Breast(139;0.0351)	73					B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	c.219G>C	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.416581	0.62511	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.89485	-2.52;-2.52	5.77	4.04	0.47022	.	0.045521	0.85682	D	0.000000	D	0.95799	0.8633	H	0.95224	3.64	0.51233	D	0.99991	D;D	0.76494	0.999;0.999	D;D	0.83275	0.968;0.996	D	0.95885	0.8902	10	0.87932	D	0	.	12.4269	0.55553	0.0:0.8636:0.0:0.1364	.	73;73	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	N	73	ENSP00000443161:K73N;ENSP00000371221:K73N	ENSP00000371221:K73N	K	-	3	2	MTMR6	24740002	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.557000	0.36299	0.782000	0.33613	0.585000	0.79938	AAG		0.393	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685		12	29	0	0	0	0	12	29				
ELF1	1997	broad.mit.edu	37	13	41517197	41517197	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr13:41517197G>A	ENST00000239882.3	-	7	1011	c.697C>T	c.(697-699)Cga>Tga	p.R233*	ELF1_ENST00000442101.1_Nonsense_Mutation_p.R209*|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	233					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CCTTTCTCTCGCTGGGTCCAC	0.408																																						uc001uxs.2		NA																	0				ovary(1)	1						c.(697-699)CGA>TGA		E74-like factor 1 (ets domain transcription							101.0	94.0	96.0					13																	41517197		2203	4300	6503	SO:0001587	stop_gained	1997				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:41517197G>A	M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.697C>T	13.37:g.41517197G>A	ENSP00000239882:p.Arg233*					ELF1_uc010tfc.1_Nonsense_Mutation_p.R209*|ELF1_uc010acd.2_Nonsense_Mutation_p.R126*	p.R233*	NM_172373	NP_758961	P32519	ELF1_HUMAN		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)	7	1070	-		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)	233			ETS.		B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Nonsense_Mutation	SNP	ENST00000239882.3	37	c.697C>T	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	G	38	7.281734	0.98186	.	.	ENSG00000120690	ENST00000442101;ENST00000239882	.	.	.	5.76	1.23	0.21249	.	0.167811	0.42682	D	0.000676	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5863	0.76485	0.0:0.0:0.3506:0.6494	.	.	.	.	X	209;233	.	ENSP00000239882:R233X	R	-	1	2	ELF1	40415197	0.999000	0.42202	0.999000	0.59377	0.992000	0.81027	0.718000	0.25866	0.257000	0.21650	0.655000	0.94253	CGA		0.408	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		16	46	0	0	0	0	16	46				
RNASE9	390443	broad.mit.edu	37	14	21025129	21025129	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:21025129C>G	ENST00000557068.1	-	4	1825	c.100G>C	c.(100-102)Gat>Cat	p.D34H	RNASE9_ENST00000555230.1_Missense_Mutation_p.D34H|RNASE9_ENST00000553541.1_Missense_Mutation_p.D34H|RNASE9_ENST00000553706.1_Missense_Mutation_p.D39H|RNASE9_ENST00000429244.2_Missense_Mutation_p.D34H|RNASE9_ENST00000338904.3_Missense_Mutation_p.D34H|RNASE9_ENST00000557209.1_Missense_Mutation_p.D39H|RNASE9_ENST00000554964.1_Missense_Mutation_p.D34H|RNASE9_ENST00000404716.3_Missense_Mutation_p.D39H|RNASE9_ENST00000556208.1_Missense_Mutation_p.D39H			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	34						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		TCTGGGAAATCAAAATCTGTA	0.438																																						uc010aho.2		NA																	0				ovary(2)	2						c.(100-102)GAT>CAT		ribonuclease, RNase A family, 9 (non-active)							63.0	65.0	64.0					14																	21025129		2203	4300	6503	SO:0001583	missense	390443					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21025129C>G	AY665804	CCDS32036.1, CCDS53883.1, CCDS55904.1	14q11.2	2006-10-31				ENSG00000188655		"""Ribonucleases, RNase A"""	20673	protein-coding gene	gene with protein product		614014				15676279, 12920233	Standard	NM_001001673		Approved	h461	uc010ahu.3	P60153		ENST00000557068.1:c.100G>C	14.37:g.21025129C>G	ENSP00000451565:p.Asp34His					RNASE9_uc001vxq.3_Missense_Mutation_p.D39H|RNASE9_uc010ahp.2_Missense_Mutation_p.D39H|RNASE9_uc010ahq.2_Missense_Mutation_p.D39H|RNASE9_uc010ahr.2_Missense_Mutation_p.D39H|RNASE9_uc010ahs.2_Missense_Mutation_p.D34H|RNASE9_uc010aht.2_Missense_Mutation_p.D34H|RNASE9_uc010ahu.2_Missense_Mutation_p.D34H	p.D34H	NM_001110357	NP_001103827	P60153	RNAS9_HUMAN	Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)	4	259	-	all_cancers(95;0.00238)		34					A2RQR8|A8QJS1|Q5GAN7|Q6KG53	Missense_Mutation	SNP	ENST00000557068.1	37	c.100G>C	CCDS32036.1	.	.	.	.	.	.	.	.	.	.	C	5.650	0.304578	0.10678	.	.	ENSG00000188655	ENST00000338904;ENST00000554964;ENST00000555230;ENST00000557068;ENST00000404716;ENST00000556208;ENST00000553541;ENST00000429244;ENST00000553706;ENST00000557209	T;T;T;T;T;T;T;T;T;T	0.15139	2.46;2.46;2.46;2.46;2.45;2.45;2.46;2.46;2.45;2.45	2.89	-5.79	0.02354	.	.	.	.	.	T	0.11324	0.0276	L	0.48642	1.525	0.09310	N	1	B;B	0.14438	0.006;0.01	B;B	0.11329	0.001;0.006	T	0.30327	-0.9982	9	0.72032	D	0.01	-0.5555	1.2758	0.02030	0.3613:0.2844:0.2187:0.1357	.	34;39	P60153;P60153-2	RNAS9_HUMAN;.	H	34;34;34;34;39;39;34;34;39;39	ENSP00000340162:D34H;ENSP00000450599:D34H;ENSP00000450800:D34H;ENSP00000451565:D34H;ENSP00000384683:D39H;ENSP00000451160:D39H;ENSP00000451285:D34H;ENSP00000409504:D34H;ENSP00000450570:D39H;ENSP00000450987:D39H	ENSP00000340162:D34H	D	-	1	0	RNASE9	20094969	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.473000	0.00988	-2.702000	0.00398	-1.255000	0.01485	GAT		0.438	RNASE9-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411094.1	NM_001001673		14	45	0	0	0	0	14	45				
PSMB5	5693	broad.mit.edu	37	14	23495350	23495350	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:23495350G>C	ENST00000361611.6	-	3	1003	c.740C>G	c.(739-741)tCc>tGc	p.S247C	PSMB5_ENST00000425762.2_Missense_Mutation_p.S144C|PSMB5_ENST00000493471.2_3'UTR|PSMB5_ENST00000460922.2_3'UTR	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	247					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)|response to oxidative stress (GO:0006979)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)|Carfilzomib(DB08889)	ATTGTCACTGGAGACTCGGAT	0.552																																						uc001wii.2		NA																	0				ovary(1)	1						c.(739-741)TCC>TGC		proteasome beta 5 subunit isoform 1	Bortezomib(DB00188)						153.0	136.0	142.0					14																	23495350		2203	4300	6503	SO:0001583	missense	5693				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|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity	g.chr14:23495350G>C	D29011	CCDS9584.1, CCDS45083.1, CCDS45084.1	14q11.2	2008-08-29			ENSG00000100804	ENSG00000100804		"""Proteasome (prosome, macropain) subunits"""	9542	protein-coding gene	gene with protein product		600306				8066462, 8811196	Standard	NM_001130725		Approved	X, MB1	uc001wii.3	P28074	OTTHUMG00000028713	ENST00000361611.6:c.740C>G	14.37:g.23495350G>C	ENSP00000355325:p.Ser247Cys					PSMB5_uc001wij.2_3'UTR|PSMB5_uc010tni.1_Missense_Mutation_p.S144C	p.S247C	NM_002797	NP_002788	P28074	PSB5_HUMAN		GBM - Glioblastoma multiforme(265;0.0121)	3	1004	-	all_cancers(95;3.3e-05)		247					B2R4N9|B4DUM9|D3DS43|E9PAV2|Q16242|Q6PEW2|Q7Z3B5|Q86T01|Q9TNN9	Missense_Mutation	SNP	ENST00000361611.6	37	c.740C>G	CCDS9584.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.775596	0.31411	.	.	ENSG00000100804	ENST00000361611;ENST00000425762	T;T	0.35973	1.28;1.28	5.49	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.41003	0.1140	M	0.79011	2.435	0.58432	D	0.999999	B	0.18610	0.029	B	0.15052	0.012	T	0.31420	-0.9944	10	0.32370	T	0.25	-5.6865	15.3107	0.74028	0.0:0.14:0.86:0.0	.	247	P28074	PSB5_HUMAN	C	247;144	ENSP00000355325:S247C;ENSP00000395206:S144C	ENSP00000355325:S247C	S	-	2	0	PSMB5	22565190	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	4.201000	0.58439	2.586000	0.87340	0.550000	0.68814	TCC		0.552	PSMB5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071695.4	NM_002797		4	158	0	0	0	0	4	158				
AKAP6	9472	broad.mit.edu	37	14	33147558	33147558	+	Silent	SNP	T	T	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:33147558T>G	ENST00000280979.4	+	8	2942	c.2772T>G	c.(2770-2772)gcT>gcG	p.A924A	AKAP6_ENST00000557272.1_Silent_p.A924A|AKAP6_ENST00000557354.1_Silent_p.A924A	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	924					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)		AAAGAGATGCTGTTGAGCAGA	0.438																																					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.(2770-2772)GCT>GCG		A-kinase anchor protein 6							139.0	122.0	127.0					14																	33147558		2203	4300	6503	SO:0001819	synonymous_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33147558T>G	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.2772T>G	14.37:g.33147558T>G						AKAP6_uc010aml.2_Silent_p.A921A	p.A924A	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)	8	2942	+	Breast(36;0.0388)|Prostate(35;0.15)		924					A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	c.2772T>G	CCDS9644.1																																																																																				0.438	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		4	23	0	0	0	0	4	23				
AKAP6	9472	broad.mit.edu	37	14	33293569	33293569	+	Missense_Mutation	SNP	G	G	A	rs201039342	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:33293569G>A	ENST00000280979.4	+	13	6720	c.6550G>A	c.(6550-6552)Gaa>Aaa	p.E2184K	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2184					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)		AGTTCCCAGCGAAGCTGCAAT	0.458													G|||	3	0.000599042	0.0	0.0014	5008	,	,		21285	0.002		0.0	False		,,,				2504	0.0				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.(6550-6552)GAA>AAA		A-kinase anchor protein 6							94.0	81.0	85.0					14																	33293569		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33293569G>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.6550G>A	14.37:g.33293569G>A	ENSP00000280979:p.Glu2184Lys						p.E2184K	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	6720	+	Breast(36;0.0388)|Prostate(35;0.15)		2184					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.6550G>A	CCDS9644.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	10.46	1.356584	0.24598	.	.	ENSG00000151320	ENST00000280979	T	0.05258	3.47	6.03	1.69	0.24217	.	1.243510	0.05291	N	0.521190	T	0.06645	0.0170	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.43196	-0.9406	10	0.35671	T	0.21	-1.2414	11.3824	0.49766	0.312:0.0:0.688:0.0	.	2184	Q13023	AKAP6_HUMAN	K	2184	ENSP00000280979:E2184K	ENSP00000280979:E2184K	E	+	1	0	AKAP6	32363320	0.009000	0.17119	0.001000	0.08648	0.030000	0.12068	1.675000	0.37555	0.444000	0.26612	-0.122000	0.15005	GAA		0.458	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		8	22	0	0	0	0	8	22				
L2HGDH	79944	broad.mit.edu	37	14	50750625	50750625	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:50750625C>T	ENST00000267436.4	-	5	1064	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	L2HGDH_ENST00000421284.3_Missense_Mutation_p.E223K|L2HGDH_ENST00000261699.4_Missense_Mutation_p.E223K|L2HGDH_ENST00000555423.1_Missense_Mutation_p.E223K|L2HGDH_ENST00000555610.1_3'UTR			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	223					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					TTAGCCATTTCAATACCTTTT	0.418																																						uc001wxu.2		NA																	0				ovary(2)	2						c.(667-669)GAA>AAA		L-2-hydroxyglutarate dehydrogenase precursor							87.0	91.0	90.0					14																	50750625		2203	4300	6503	SO:0001583	missense	79944				2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity	g.chr14:50750625C>T		CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"""2-hydroxyglutarate dehydrogenase"""	609584	"""chromosome 14 open reading frame 160"""	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.667G>A	14.37:g.50750625C>T	ENSP00000267436:p.Glu223Lys					L2HGDH_uc010tqn.1_Missense_Mutation_p.E223K|L2HGDH_uc010tqo.1_Missense_Mutation_p.E223K	p.E223K	NM_024884	NP_079160	Q9H9P8	L2HDH_HUMAN			5	746	-	all_epithelial(31;0.000599)|Breast(41;0.0102)		223					Q9BRR1	Missense_Mutation	SNP	ENST00000267436.4	37	c.667G>A	CCDS9698.1	.	.	.	.	.	.	.	.	.	.	C	7.617	0.675967	0.14841	.	.	ENSG00000087299	ENST00000261699;ENST00000267436;ENST00000421284;ENST00000555423	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.43	2.48	0.30137	FAD dependent oxidoreductase (1);	0.580051	0.20585	N	0.089457	T	0.60011	0.2236	N	0.10707	0.03	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.46775	-0.9167	10	0.08837	T	0.75	-16.3461	6.6055	0.22724	0.0:0.5711:0.2181:0.2107	.	223;223	C9JVN9;Q9H9P8	.;L2HDH_HUMAN	K	223	ENSP00000261699:E223K;ENSP00000267436:E223K;ENSP00000405559:E223K;ENSP00000450494:E223K	ENSP00000261699:E223K	E	-	1	0	L2HGDH	49820375	0.998000	0.40836	1.000000	0.80357	0.825000	0.46686	0.513000	0.22770	0.788000	0.33755	0.455000	0.32223	GAA		0.418	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276870.2	NM_024884		19	55	0	0	0	0	19	55				
PYGL	5836	broad.mit.edu	37	14	51411035	51411035	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:51411035C>T	ENST00000216392.7	-	1	419	c.87G>A	c.(85-87)aaG>aaA	p.K29K	PYGL_ENST00000532462.1_Silent_p.K29K|PYGL_ENST00000544180.2_Silent_p.K29K	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	29					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	TGAAACTCTTCTTCAGCTCTG	0.667																																						uc001wyu.2		NA																	0				skin(1)	1						c.(85-87)AAG>AAA		liver glycogen phosphorylase isoform 1	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						90.0	68.0	75.0					14																	51411035		2203	4300	6503	SO:0001819	synonymous_variant	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51411035C>T		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.87G>A	14.37:g.51411035C>T						PYGL_uc010tqq.1_Silent_p.K29K|PYGL_uc001wyv.2_5'UTR|PYGL_uc001wyw.3_Silent_p.K29K	p.K29K	NM_002863	NP_002854	P06737	PYGL_HUMAN			1	214	-	all_epithelial(31;0.00825)|Breast(41;0.148)		29					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Silent	SNP	ENST00000216392.7	37	c.87G>A	CCDS32080.1																																																																																				0.667	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		18	38	0	0	0	0	18	38				
ADAM20	8748	broad.mit.edu	37	14	70991263	70991263	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:70991263C>G	ENST00000256389.3	-	2	606	c.362G>C	c.(361-363)aGa>aCa	p.R121T	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	71					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GACAATGTATCTCTGTCCCCC	0.532																																						uc001xme.2		NA																	0				skin(1)	1						c.(361-363)AGA>ACA		ADAM metallopeptidase domain 20 preproprotein							138.0	96.0	110.0					14																	70991263		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70991263C>G	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.362G>C	14.37:g.70991263C>G	ENSP00000256389:p.Arg121Thr						p.R121T	NM_003814	NP_003805	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	607	-			71					Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.362G>C	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	C	9.728	1.161379	0.21538	.	.	ENSG00000134007	ENST00000256389	T	0.06142	3.34	4.14	2.29	0.28610	Peptidase M12B, propeptide (1);	0.161221	0.28583	U	0.014833	T	0.11367	0.0277	M	0.74467	2.265	0.09310	N	1	P	0.43701	0.815	P	0.46419	0.516	T	0.06409	-1.0828	10	0.72032	D	0.01	.	6.0836	0.19954	0.0:0.6366:0.1741:0.1893	.	71	O43506	ADA20_HUMAN	T	121	ENSP00000256389:R121T	ENSP00000256389:R121T	R	-	2	0	ADAM20	70061016	0.000000	0.05858	0.175000	0.22980	0.006000	0.05464	-0.743000	0.04845	1.077000	0.40990	0.650000	0.86243	AGA		0.532	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			23	73	0	0	0	0	23	73				
ADAM20	8748	broad.mit.edu	37	14	70991307	70991307	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:70991307C>A	ENST00000256389.3	-	2	562	c.318G>T	c.(316-318)aaG>aaT	p.K106N	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	56					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		ATCCAGGAGCCTTTGCACCTC	0.522																																						uc001xme.2		NA																	0				skin(1)	1						c.(316-318)AAG>AAT		ADAM metallopeptidase domain 20 preproprotein							96.0	81.0	86.0					14																	70991307		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70991307C>A	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.318G>T	14.37:g.70991307C>A	ENSP00000256389:p.Lys106Asn						p.K106N	NM_003814	NP_003805	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	563	-			56					Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.318G>T	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	C	4.591	0.109886	0.08780	.	.	ENSG00000134007	ENST00000256389	T	0.06142	3.34	4.14	3.25	0.37280	Peptidase M12B, propeptide (1);	0.589500	0.13679	U	0.370351	T	0.06280	0.0162	L	0.42744	1.35	0.09310	N	1	B	0.16603	0.018	B	0.24701	0.055	T	0.36163	-0.9759	10	0.30854	T	0.27	.	4.8666	0.13611	0.0:0.6075:0.194:0.1985	.	56	O43506	ADA20_HUMAN	N	106	ENSP00000256389:K106N	ENSP00000256389:K106N	K	-	3	2	ADAM20	70061060	0.000000	0.05858	0.002000	0.10522	0.210000	0.24377	0.188000	0.17018	1.078000	0.41014	0.650000	0.86243	AAG		0.522	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			22	69	1	0	1.5e-11	2.04e-11	22	69				
PCNX	22990	broad.mit.edu	37	14	71576209	71576209	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:71576209C>G	ENST00000304743.2	+	35	7231	c.6785C>G	c.(6784-6786)tCt>tGt	p.S2262C	PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000238570.5_Missense_Mutation_p.S2190C|PCNX_ENST00000439984.3_Missense_Mutation_p.S2151C	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2262						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)		ATCAACCTGTCTAAAAGGAAA	0.408																																						uc001xmo.2		NA																	0				ovary(1)	1						c.(6784-6786)TCT>TGT		pecanex-like 1							70.0	75.0	73.0					14																	71576209		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71576209C>G	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.6785C>G	14.37:g.71576209C>G	ENSP00000304192:p.Ser2262Cys					PCNX_uc010are.1_Missense_Mutation_p.S2151C|PCNX_uc010arf.1_Missense_Mutation_p.S1050C|PCNX_uc001xmp.2_Missense_Mutation_p.S346C	p.S2262C	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)	35	7231	+			2262					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.6785C>G	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.53|19.53	3.844171|3.844171	0.71488|0.71488	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984;ENST00000555780	.|T;T;T	.|0.10860	.|3.26;3.29;2.83	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|0.062014	.|0.64402	.|D	.|0.000002	T|T	0.25680|0.25680	0.0625|0.0625	L|L	0.41236|0.41236	1.265|1.265	0.37782|0.37782	D|D	0.927052|0.927052	.|D;D;D	.|0.76494	.|0.998;0.999;0.999	.|P;P;P	.|0.61592	.|0.891;0.862;0.862	T|T	0.00129|0.00129	-1.2016|-1.2016	5|10	.|0.54805	.|T	.|0.06	.|.	20.8598|20.8598	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2190;2151;2262	.|Q96RV3-3;B2RTR6;Q96RV3	.|.;.;PCX1_HUMAN	V|C	1249|2262;2190;2151;23	.|ENSP00000304192:S2262C;ENSP00000238570:S2190C;ENSP00000396617:S2151C	.|ENSP00000238570:S2190C	L|S	+|+	1|2	2|0	PCNX|PCNX	70645962|70645962	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.939000|0.939000	0.58152|0.58152	7.336000|7.336000	0.79245|0.79245	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CTA|TCT		0.408	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		11	37	0	0	0	0	11	37				
PCNX	22990	broad.mit.edu	37	14	71576247	71576247	+	Missense_Mutation	SNP	C	C	T	rs370831013		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:71576247C>T	ENST00000304743.2	+	35	7269	c.6823C>T	c.(6823-6825)Cgg>Tgg	p.R2275W	PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000238570.5_Missense_Mutation_p.R2203W|PCNX_ENST00000439984.3_Missense_Mutation_p.R2164W	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2275						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)		TGAAGGAATCCGGTTAAAAGC	0.473																																						uc001xmo.2		NA																	0				ovary(1)	1						c.(6823-6825)CGG>TGG		pecanex-like 1		C	TRP/ARG	0,4406		0,0,2203	75.0	83.0	80.0		6823	6.2	1.0	14		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	PCNX	NM_014982.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2275/2342	71576247	1,13005	2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71576247C>T	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.6823C>T	14.37:g.71576247C>T	ENSP00000304192:p.Arg2275Trp					PCNX_uc010are.1_Missense_Mutation_p.R2164W|PCNX_uc010arf.1_Missense_Mutation_p.R1063W|PCNX_uc001xmp.2_Missense_Mutation_p.R359W	p.R2275W	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)	35	7269	+			2275					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.6823C>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.625398	0.66901	0.0	1.16E-4	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984;ENST00000555780	T;T;T	0.15256	2.83;2.88;2.44	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.45256	0.1333	M	0.78049	2.395	0.38299	D	0.942916	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.993	T	0.44528	-0.9322	10	0.87932	D	0	.	16.3585	0.83245	0.1324:0.8676:0.0:0.0	.	2203;2164;2275	Q96RV3-3;B2RTR6;Q96RV3	.;.;PCX1_HUMAN	W	2275;2203;2164;36	ENSP00000304192:R2275W;ENSP00000238570:R2203W;ENSP00000396617:R2164W	ENSP00000238570:R2203W	R	+	1	2	PCNX	70646000	1.000000	0.71417	0.990000	0.47175	0.912000	0.54170	3.509000	0.53386	2.937000	0.99478	0.650000	0.86243	CGG		0.473	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		12	47	0	0	0	0	12	47				
SIPA1L1	26037	broad.mit.edu	37	14	72055532	72055532	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:72055532G>A	ENST00000555818.1	+	2	1291	c.943G>A	c.(943-945)Gat>Aat	p.D315N	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.D315N|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.D315N	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	315					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AGATCTTGAAGATAACCGATC	0.408																																						uc001xms.2		NA																	0				ovary(3)|breast(1)	4						c.(943-945)GAT>AAT		signal-induced proliferation-associated 1 like							67.0	71.0	70.0					14																	72055532		2203	4299	6502	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72055532G>A	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.943G>A	14.37:g.72055532G>A	ENSP00000450832:p.Asp315Asn					SIPA1L1_uc001xmt.2_Missense_Mutation_p.D315N|SIPA1L1_uc001xmu.2_Missense_Mutation_p.D315N|SIPA1L1_uc001xmv.2_Missense_Mutation_p.D315N	p.D315N	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	1291	+			315					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.943G>A	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374914	0.61735	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.40476	1.03;1.03;1.03	6.07	6.07	0.98685	.	0.252703	0.43747	D	0.000530	T	0.64864	0.2637	M	0.63843	1.955	0.80722	D	1	B;D;D	0.76494	0.296;0.999;0.993	B;D;D	0.76071	0.106;0.987;0.984	T	0.60281	-0.7294	10	0.48119	T	0.1	-29.0099	20.6593	0.99626	0.0:0.0:1.0:0.0	.	315;315;315	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	N	315	ENSP00000370630:D315N;ENSP00000450832:D315N;ENSP00000351352:D315N	ENSP00000351352:D315N	D	+	1	0	SIPA1L1	71125285	1.000000	0.71417	0.999000	0.59377	0.054000	0.15201	9.558000	0.98132	2.885000	0.99019	0.655000	0.94253	GAT		0.408	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		14	50	0	0	0	0	14	50				
TMED10	10972	broad.mit.edu	37	14	75643164	75643164	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:75643164G>C	ENST00000303575.4	-	1	170	c.119C>G	c.(118-120)tCt>tGt	p.S40C		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	40	Required for interaction with STX17.				beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		GCACTTGCGAGAGTTAATGGG	0.622																																						uc001xrm.1		NA																	0					0						c.(118-120)TCT>TGT		transmembrane emp24 domain-containing protein 10							84.0	83.0	83.0					14																	75643164		2203	4300	6503	SO:0001583	missense	10972				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding	g.chr14:75643164G>C	AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.119C>G	14.37:g.75643164G>C	ENSP00000303145:p.Ser40Cys					TMED10_uc010ash.1_RNA	p.S40C	NM_006827	NP_006818	P49755	TMEDA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0126)	1	186	-			40			Lumenal (Potential).		B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Missense_Mutation	SNP	ENST00000303575.4	37	c.119C>G	CCDS9840.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444102	0.83993	.	.	ENSG00000170348	ENST00000303575	T	0.18338	2.22	5.15	5.15	0.70609	GOLD (1);	0.338386	0.30989	N	0.008461	T	0.42086	0.1187	M	0.79805	2.47	0.51767	D	0.999932	D	0.60160	0.987	P	0.61874	0.895	T	0.35525	-0.9785	10	0.66056	D	0.02	-16.4952	15.6604	0.77182	0.0:0.0:1.0:0.0	.	40	P49755	TMEDA_HUMAN	C	40	ENSP00000303145:S40C	ENSP00000303145:S40C	S	-	2	0	TMED10	74712917	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.909000	0.69923	2.683000	0.91414	0.455000	0.32223	TCT		0.622	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	NM_006827		5	100	0	0	0	0	5	100				
VASH1	22846	broad.mit.edu	37	14	77239553	77239553	+	Splice_Site	SNP	A	A	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:77239553A>G	ENST00000167106.4	+	4	1162	c.529A>G	c.(529-531)Att>Gtt	p.I177V	VASH1_ENST00000556038.1_3'UTR|RP11-488C13.6_ENST00000556368.1_RNA|VASH1_ENST00000554237.1_Missense_Mutation_p.M177V	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	177					angiogenesis (GO:0001525)|cell cycle arrest (GO:0007050)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of lymphangiogenesis (GO:1901491)|regulation of cellular senescence (GO:2000772)|response to wounding (GO:0009611)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		GATCCTGGGAATGTATCCTTC	0.582																																						uc001xst.2		NA																	0					0						c.(529-531)ATT>GTT		vasohibin 1							68.0	63.0	65.0					14																	77239553		2203	4300	6503	SO:0001630	splice_region_variant	22846				cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space		g.chr14:77239553A>G	AB028959	CCDS9851.1	14q24.3	2006-09-25	2005-08-16	2005-08-16		ENSG00000071246			19964	protein-coding gene	gene with protein product		609011	"""KIAA1036"""	KIAA1036			Standard	NM_014909		Approved		uc001xst.2	Q7L8A9		ENST00000167106.4:c.530+1A>G	14.37:g.77239553A>G						VASH1_uc001xss.2_Missense_Mutation_p.M177V	p.I177V	NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)	4	1459	+			177					Q96H02|Q9UBF4|Q9Y629	Missense_Mutation	SNP	ENST00000167106.4	37	c.529A>G	CCDS9851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.40|16.40	3.112661|3.112661	0.56398|0.56398	.|.	.|.	ENSG00000071246|ENSG00000071246	ENST00000167106|ENST00000554237	.|.	.|.	.|.	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	0.095154|.	0.64402|.	D|.	0.000001|.	T|T	0.68293|0.68293	0.2985|0.2985	L|L	0.48877|0.48877	1.53|1.53	0.80722|0.80722	D|D	1|1	D|D	0.56968|0.61697	0.978|0.99	D|D	0.70227|0.72982	0.968|0.979	T|T	0.67473|0.67473	-0.5662|-0.5662	9|7	0.66056|.	D|.	0.02|.	-14.1939|-14.1939	14.1988|14.1988	0.65688|0.65688	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	177|177	Q7L8A9|Q7L8A9-2	VASH1_HUMAN|.	V|V	177|177	.|.	ENSP00000167106:I177V|.	I|M	+|+	1|1	0|0	VASH1|VASH1	76309306|76309306	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	8.962000|8.962000	0.93254|0.93254	1.765000|1.765000	0.52091|0.52091	0.459000|0.459000	0.35465|0.35465	ATT|ATG		0.582	VASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413706.1	NM_014909	Missense_Mutation	12	35	0	0	0	0	12	35				
SYNE3	161176	broad.mit.edu	37	14	95932570	95932570	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:95932570C>T	ENST00000334258.5	-	3	339	c.325G>A	c.(325-327)Gag>Aag	p.E109K	SYNE3_ENST00000557275.1_Missense_Mutation_p.E109K|SYNE3_ENST00000553340.1_Missense_Mutation_p.E109K	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	109					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CACACCCACTCGATGCGGCTG	0.617																																						uc001yei.3		NA																	0				central_nervous_system(1)	1						c.(325-327)GAG>AAG		nesprin-3							39.0	43.0	41.0					14																	95932570		2201	4296	6497	SO:0001583	missense	161176				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	g.chr14:95932570C>T	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.325G>A	14.37:g.95932570C>T	ENSP00000334308:p.Glu109Lys					C14orf49_uc010avi.2_Missense_Mutation_p.E109K|C14orf49_uc001yej.1_Missense_Mutation_p.E109K	p.E109K	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	3	340	-		all_cancers(154;0.0937)	109			Cytoplasmic (Potential).		A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	c.325G>A	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	c	29.1	4.975989	0.92982	.	.	ENSG00000176438	ENST00000334258;ENST00000557275;ENST00000553340	T;T;T	0.39787	1.06;1.06;1.06	4.12	4.12	0.48240	.	0.000000	0.38778	N	0.001569	T	0.60766	0.2294	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.63793	0.918;0.918;0.83	T	0.67007	-0.5779	10	0.66056	D	0.02	-23.387	16.4126	0.83723	0.0:1.0:0.0:0.0	.	109;109;109	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	K	109	ENSP00000334308:E109K;ENSP00000450562:E109K;ENSP00000450774:E109K	ENSP00000334308:E109K	E	-	1	0	C14orf49	95002323	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.292000	0.78731	1.828000	0.53243	0.298000	0.19748	GAG		0.617	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		12	73	0	0	0	0	12	73				
SETD3	84193	broad.mit.edu	37	14	99925500	99925500	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:99925500A>G	ENST00000331768.5	-	5	527	c.368T>C	c.(367-369)gTt>gCt	p.V123A	SETD3_ENST00000453938.1_5'UTR|SETD3_ENST00000436070.2_Missense_Mutation_p.V123A|SETD3_ENST00000329331.3_Missense_Mutation_p.V123A	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	123	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				TTTTCGTGGAACCCATAAAAA	0.343																																						uc001ygc.2		NA																	0					0						c.(367-369)GTT>GCT		SET domain containing 3 isoform a							107.0	112.0	110.0					14																	99925500		2203	4300	6503	SO:0001583	missense	84193				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	g.chr14:99925500A>G	AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.368T>C	14.37:g.99925500A>G	ENSP00000327436:p.Val123Ala					SETD3_uc001ygd.2_Missense_Mutation_p.V123A|SETD3_uc001ygf.2_Missense_Mutation_p.V123A	p.V123A	NM_032233	NP_115609	Q86TU7	SETD3_HUMAN			5	538	-		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)	123			SET.		A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Missense_Mutation	SNP	ENST00000331768.5	37	c.368T>C	CCDS9951.1	.	.	.	.	.	.	.	.	.	.	A	33	5.209145	0.95069	.	.	ENSG00000183576	ENST00000331768;ENST00000329331;ENST00000436070	T;T;T	0.18502	2.21;2.21;2.21	5.47	5.47	0.80525	SET domain (1);	0.061993	0.64402	D	0.000004	T	0.33904	0.0879	L	0.59967	1.855	0.80722	D	1	P;P;D	0.57257	0.819;0.894;0.979	B;P;P	0.57152	0.445;0.532;0.814	T	0.05007	-1.0912	10	0.87932	D	0	-26.6707	15.8526	0.78943	1.0:0.0:0.0:0.0	.	123;123;123	Q6NXR6;A0PJU3;Q86TU7	.;.;SETD3_HUMAN	A	123	ENSP00000327436:V123A;ENSP00000327910:V123A;ENSP00000408602:V123A	ENSP00000327910:V123A	V	-	2	0	SETD3	98995253	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.216000	0.95154	2.197000	0.70478	0.455000	0.32223	GTT		0.343	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233		12	92	0	0	0	0	12	92				
MOK	5891	broad.mit.edu	37	14	102732245	102732245	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:102732245C>G	ENST00000361847.2	-	3	358	c.127G>C	c.(127-129)Gag>Cag	p.E43Q	MOK_ENST00000193029.6_5'UTR|MOK_ENST00000522874.1_Missense_Mutation_p.E43Q|MOK_ENST00000524214.1_Intron	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	43	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										TTGACTTGCTCAATACTATCG	0.378																																						uc001ylm.2		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(127-129)GAG>CAG		MAPK/MAK/MRK overlapping kinase							150.0	139.0	143.0					14																	102732245		2203	4300	6503	SO:0001583	missense	5891				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr14:102732245C>G	AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"""renal tumor antigen"""	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.127G>C	14.37:g.102732245C>G	ENSP00000355304:p.Glu43Gln					RAGE_uc010txv.1_Intron|RAGE_uc001yln.2_5'UTR	p.E43Q	NM_014226	NP_055041	Q9UQ07	MOK_HUMAN			3	353	-			43			Protein kinase.		B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	ENST00000361847.2	37	c.127G>C	CCDS9971.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735180	0.30774	.	.	ENSG00000080823	ENST00000522874;ENST00000361847	T;T	0.66280	-0.2;-0.2	5.66	4.78	0.61160	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.059805	0.64402	D	0.000004	T	0.63628	0.2527	L	0.49571	1.57	0.80722	D	1	B	0.34349	0.45	B	0.41917	0.37	T	0.66771	-0.5839	10	0.72032	D	0.01	-9.6753	14.437	0.67287	0.0:0.9284:0.0:0.0716	.	43	Q9UQ07	MOK_HUMAN	Q	43	ENSP00000429469:E43Q;ENSP00000355304:E43Q	ENSP00000355304:E43Q	E	-	1	0	RAGE	101801998	1.000000	0.71417	0.892000	0.35008	0.071000	0.16799	6.142000	0.71750	1.401000	0.46761	-0.150000	0.13652	GAG		0.378	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			6	32	0	0	0	0	6	32				
ZNF839	55778	broad.mit.edu	37	14	102805529	102805529	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:102805529G>A	ENST00000558850.1	+	7	1898	c.1548G>A	c.(1546-1548)gaG>gaA	p.E516E	ZNF839_ENST00000559185.1_Silent_p.E516E|AL137229.1_ENST00000577622.1_RNA|ZNF839_ENST00000420933.2_3'UTR|ZNF839_ENST00000262236.5_Silent_p.E516E|ZNF839_ENST00000442396.2_Silent_p.E632E	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	516							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GAGGCCGGGAGAAGCCCAGGC	0.582																																						uc001ylo.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1546-1548)GAG>GAA		zinc finger protein 839							48.0	51.0	50.0					14																	102805529		1916	4130	6046	SO:0001819	synonymous_variant	55778					intracellular	zinc ion binding	g.chr14:102805529G>A	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.1548G>A	14.37:g.102805529G>A						ZNF839_uc010awk.1_Silent_p.E632E|ZNF839_uc001ylp.2_RNA|ZNF839_uc001ylq.1_Silent_p.E516E|ZNF839_uc001ylr.2_Silent_p.E441E|ZNF839_uc001yls.2_Silent_p.E131E|ZNF839_uc001ylt.2_Silent_p.E106E	p.E516E	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN			7	1898	+			516					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Silent	SNP	ENST00000558850.1	37	c.1548G>A	CCDS58336.1																																																																																				0.582	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		6	23	0	0	0	0	6	23				
TECPR2	9895	broad.mit.edu	37	14	102901519	102901519	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:102901519G>C	ENST00000359520.7	+	9	2591	c.2365G>C	c.(2365-2367)Gag>Cag	p.E789Q	TECPR2_ENST00000558678.1_Missense_Mutation_p.E789Q	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	789					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GCTGGGTGCAGAGGACGCCGG	0.552																																						uc001ylw.1		NA																	0				lung(1)|central_nervous_system(1)|skin(1)	3						c.(2365-2367)GAG>CAG		tectonin beta-propeller repeat containing 2							43.0	50.0	48.0					14																	102901519		2191	4281	6472	SO:0001583	missense	9895						protein binding	g.chr14:102901519G>C	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.2365G>C	14.37:g.102901519G>C	ENSP00000352510:p.Glu789Gln					TECPR2_uc010awl.2_Missense_Mutation_p.E789Q|TECPR2_uc010txx.1_Intron	p.E789Q	NM_014844	NP_055659	O15040	TCPR2_HUMAN			9	2513	+			789					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	c.2365G>C	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281384	0.59758	.	.	ENSG00000196663	ENST00000359520	T	0.16073	2.37	5.31	5.31	0.75309	.	1.226500	0.05378	N	0.536567	T	0.19446	0.0467	L	0.29908	0.895	0.26975	N	0.965504	B;B	0.13145	0.007;0.007	B;B	0.13407	0.009;0.009	T	0.38950	-0.9637	9	.	.	.	.	19.0438	0.93012	0.0:0.0:1.0:0.0	.	789;789	A5PKY3;O15040	.;TCPR2_HUMAN	Q	789	ENSP00000352510:E789Q	.	E	+	1	0	TECPR2	101971272	0.999000	0.42202	0.008000	0.14137	0.014000	0.08584	7.963000	0.87922	2.504000	0.84457	0.555000	0.69702	GAG		0.552	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		19	92	0	0	0	0	19	92				
CKB	1152	broad.mit.edu	37	14	103986510	103986510	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:103986510C>T	ENST00000348956.2	-	7	1273	c.916G>A	c.(916-918)Gag>Aag	p.E306K		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	306	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GAGAACTTCTCATGCTTGCCC	0.632																																					Esophageal Squamous(186;2492 2823 49929 50127)	uc001ynf.1		NA																	0					0						c.(916-918)GAG>AAG		brain creatine kinase	Creatine(DB00148)						49.0	53.0	52.0					14																	103986510		2203	4300	6503	SO:0001583	missense	1152				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr14:103986510C>T		CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.916G>A	14.37:g.103986510C>T	ENSP00000299198:p.Glu306Lys					CKB_uc001yne.1_Missense_Mutation_p.E128K|CKB_uc010awr.1_Missense_Mutation_p.E237K	p.E306K	NM_001823	NP_001814	P12277	KCRB_HUMAN	Epithelial(46;0.14)		7	996	-		Melanoma(154;0.155)	306			Phosphagen kinase C-terminal.		A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Missense_Mutation	SNP	ENST00000348956.2	37	c.916G>A	CCDS9981.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.72|15.72	2.916235|2.916235	0.52546|0.52546	.|.	.|.	ENSG00000166165|ENSG00000166165	ENST00000348956;ENST00000428256;ENST00000553610|ENST00000555039	T;T|.	0.11277|.	2.79;2.79|.	4.63|4.63	4.63|4.63	0.57726|0.57726	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);|.	0.108661|.	0.64402|.	D|.	0.000009|.	T|T	0.45256|0.45256	0.1333|0.1333	N|N	0.10618|0.10618	0.005|0.005	0.53688|0.53688	D|D	0.999979|0.999979	B|.	0.06786|.	0.001|.	B|.	0.10450|.	0.005|.	T|T	0.42224|0.42224	-0.9464|-0.9464	10|5	0.13470|.	T|.	0.59|.	-20.6646|-20.6646	17.5047|17.5047	0.87741|0.87741	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	306|.	P12277|.	KCRB_HUMAN|.	K|I	306;271;104|56	ENSP00000299198:E306K;ENSP00000451426:E104K|.	ENSP00000299198:E306K|.	E|M	-|-	1|3	0|0	CKB|CKB	103056263|103056263	0.970000|0.970000	0.33590|0.33590	1.000000|1.000000	0.80357|0.80357	0.913000|0.913000	0.54294|0.54294	2.326000|2.326000	0.43849|0.43849	2.110000|2.110000	0.64415|0.64415	0.462000|0.462000	0.41574|0.41574	GAG|ATG		0.632	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415111.1			8	40	0	0	0	0	8	40				
PPP1R13B	23368	broad.mit.edu	37	14	104209072	104209072	+	Silent	SNP	C	C	T	rs12891833		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:104209072C>T	ENST00000202556.9	-	10	1521	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	413					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CCTCCACGCTCGGATCCTTCC	0.552																																						uc001yof.1		NA																	0				ovary(1)	1						c.(1237-1239)CCG>CCA		apoptosis-stimulating protein of p53, 1							61.0	63.0	62.0					14																	104209072		1972	4148	6120	SO:0001819	synonymous_variant	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104209072C>T	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.1239G>A	14.37:g.104209072C>T						PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Silent_p.P280P	p.P413P	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN			10	1522	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	413					B2RMX5|O94870	Silent	SNP	ENST00000202556.9	37	c.1239G>A	CCDS41997.1																																																																																				0.552	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		9	69	0	0	0	0	9	69				
AHNAK2	113146	broad.mit.edu	37	14	105414035	105414035	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:105414035G>A	ENST00000333244.5	-	7	7872	c.7753C>T	c.(7753-7755)Cag>Tag	p.Q2585*	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2585						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACATCTAGCTGGGGGCCCTTG	0.627																																						uc010axc.1		NA																	0				ovary(1)	1						c.(7753-7755)CAG>TAG		AHNAK nucleoprotein 2							123.0	134.0	131.0					14																	105414035		1843	4081	5924	SO:0001587	stop_gained	113146					nucleus		g.chr14:105414035G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7753C>T	14.37:g.105414035G>A	ENSP00000353114:p.Gln2585*					AHNAK2_uc001ypx.2_Nonsense_Mutation_p.Q2485*	p.Q2585*	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	7873	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2585					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Nonsense_Mutation	SNP	ENST00000333244.5	37	c.7753C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	45	11.969166	0.99622	.	.	ENSG00000185567	ENST00000333244	.	.	.	2.03	1.1	0.20463	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.743	0.23447	0.0:0.1931:0.6088:0.1981	.	.	.	.	X	2585	.	ENSP00000353114:Q2585X	Q	-	1	0	AHNAK2	104485080	0.674000	0.27549	0.017000	0.16124	0.001000	0.01503	-0.932000	0.03963	0.427000	0.26145	-0.840000	0.03056	CAG		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		67	220	0	0	0	0	67	220				
BRF1	2972	broad.mit.edu	37	14	105677498	105677498	+	Missense_Mutation	SNP	C	C	T	rs587640821		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr14:105677498C>T	ENST00000546474.1	-	17	16916	c.1957G>A	c.(1957-1959)Gag>Aag	p.E653K	BRF1_ENST00000440513.3_Missense_Mutation_p.E560K|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000379937.2_Missense_Mutation_p.E626K|BRF1_ENST00000392557.4_Missense_Mutation_p.E449K|BRF1_ENST00000327359.3_Missense_Mutation_p.E538K|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000446501.2_Missense_Mutation_p.E415K|BRF1_ENST00000547530.1_Missense_Mutation_p.E179K	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	653					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		ACGCAGGGCTCCCCGTCCTCC	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		15776	0.001		0.0	False		,,,				2504	0.0					uc001yqp.2		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(1957-1959)GAG>AAG		transcription initiation factor IIIB isoform 1							97.0	96.0	96.0					14																	105677498		2203	4300	6503	SO:0001583	missense	2972				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	g.chr14:105677498C>T	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.1957G>A	14.37:g.105677498C>T	ENSP00000448323:p.Glu653Lys					BRF1_uc010tyo.1_Missense_Mutation_p.E538K|BRF1_uc010typ.1_Missense_Mutation_p.E560K|BRF1_uc001yqk.2_Missense_Mutation_p.E179K|BRF1_uc001yql.2_Missense_Mutation_p.E449K|BRF1_uc001yqo.2_Missense_Mutation_p.E415K|BRF1_uc010axg.1_Missense_Mutation_p.E626K|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_3'UTR	p.E653K	NM_001519	NP_001510	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)	17	2320	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	653					B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP	ENST00000546474.1	37	c.1957G>A	CCDS10001.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267692	0.59540	.	.	ENSG00000185024	ENST00000392557;ENST00000379937;ENST00000546474;ENST00000547530;ENST00000446501;ENST00000327359;ENST00000440513	.	.	.	4.28	4.28	0.50868	.	0.152310	0.40222	N	0.001156	T	0.62986	0.2473	L	0.53249	1.67	0.80722	D	1	D;D;P	0.55385	0.971;0.971;0.952	P;P;P	0.53401	0.725;0.725;0.536	T	0.66440	-0.5923	9	0.59425	D	0.04	.	12.9622	0.58464	0.0:1.0:0.0:0.0	.	560;626;653	F5H5Z7;Q92994-5;Q92994	.;.;TF3B_HUMAN	K	449;626;653;179;415;538;560	.	ENSP00000329029:E538K	E	-	1	0	BRF1	104748543	0.263000	0.24083	0.994000	0.49952	0.014000	0.08584	1.431000	0.34925	2.328000	0.79073	0.655000	0.94253	GAG		0.667	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519		28	99	0	0	0	0	28	99				
UBE3A	7337	broad.mit.edu	37	15	25620732	25620732	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:25620732C>T	ENST00000397954.2	-	3	249	c.250G>A	c.(250-252)Gat>Aat	p.D84N	UBE3A_ENST00000232165.3_Missense_Mutation_p.D81N|UBE3A_ENST00000566215.1_Missense_Mutation_p.D61N|UBE3A_ENST00000438097.1_Missense_Mutation_p.D61N|UBE3A_ENST00000428984.2_Missense_Mutation_p.D61N|SNHG14_ENST00000554726.1_RNA			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	84					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GGATGAGGATCACAGAGTTTT	0.423																																						uc001zaq.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3						c.(250-252)GAT>AAT		ubiquitin protein ligase E3A isoform 2							79.0	82.0	81.0					15																	25620732		2203	4300	6503	SO:0001583	missense	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25620732C>T	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.250G>A	15.37:g.25620732C>T	ENSP00000381045:p.Asp84Asn					UBE3A_uc001zar.2_Missense_Mutation_p.D61N|UBE3A_uc001zas.2_Missense_Mutation_p.D81N|UBE3A_uc001zat.2_Missense_Mutation_p.D61N	p.D84N	NM_000462	NP_000453	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	3	250	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	84					A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.250G>A	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638060	0.47153	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.41581	0.1165	L	0.29908	0.895	0.58432	D	0.999998	B;B	0.14805	0.011;0.009	B;B	0.14578	0.003;0.011	T	0.13229	-1.0517	10	0.42905	T	0.14	.	20.1169	0.97940	0.0:1.0:0.0:0.0	.	81;84	Q05086-3;Q05086	.;UBE3A_HUMAN	N	81;81;84;61;61	ENSP00000232165:D81N;ENSP00000381045:D84N;ENSP00000411258:D61N;ENSP00000401265:D61N	ENSP00000232165:D81N	D	-	1	0	UBE3A	23171825	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.250000	0.51445	2.835000	0.97688	0.591000	0.81541	GAT		0.423	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		12	42	0	0	0	0	12	42				
FSIP1	161835	broad.mit.edu	37	15	40068622	40068622	+	Missense_Mutation	SNP	G	G	A	rs148913803		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:40068622G>A	ENST00000350221.3	-	2	313	c.104C>T	c.(103-105)tCa>tTa	p.S35L	RP11-37C7.1_ENST00000558616.1_RNA	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	35										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TGGTTCTGTTGAGAGCACCTC	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		12020	0.0		0.001	False		,,,				2504	0.0					uc001zki.2		NA																	0				ovary(2)|skin(1)	3						c.(103-105)TCA>TTA		fibrous sheath interacting protein 1		G	LEU/SER	0,4406		0,0,2203	137.0	132.0	134.0		104	4.0	1.0	15	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	no	missense	FSIP1	NM_152597.4	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	35/582	40068622	1,13005	2203	4300	6503	SO:0001583	missense	161835							g.chr15:40068622G>A	BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.104C>T	15.37:g.40068622G>A	ENSP00000280236:p.Ser35Leu						p.S35L	NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)	2	322	-		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)	35					Q6X2C8|Q86Y89	Missense_Mutation	SNP	ENST00000350221.3	37	c.104C>T	CCDS10050.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088272	0.76756	0.0	1.16E-4	ENSG00000150667	ENST00000350221	T	0.26660	1.72	4.99	4.04	0.47022	.	0.707951	0.12548	N	0.459310	T	0.40645	0.1125	L	0.60455	1.87	0.28055	N	0.933191	D	0.63046	0.992	P	0.55824	0.785	T	0.20472	-1.0274	9	.	.	.	-1.2311	12.7648	0.57386	0.0:0.1654:0.8345:0.0	.	35	Q8NA03	FSIP1_HUMAN	L	35	ENSP00000280236:S35L	.	S	-	2	0	FSIP1	37855914	1.000000	0.71417	0.998000	0.56505	0.823000	0.46562	3.371000	0.52379	1.405000	0.46838	0.603000	0.83216	TCA		0.388	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597		16	68	0	0	0	0	16	68				
INO80	54617	broad.mit.edu	37	15	41279293	41279293	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:41279293C>G	ENST00000361937.3	-	31	4252	c.3828G>C	c.(3826-3828)aaG>aaC	p.K1276N	INO80_ENST00000561244.1_5'UTR|INO80_ENST00000401393.3_Missense_Mutation_p.K1276N			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1276	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ACATACGTTTCTTCTCCAACT	0.468																																						uc001zni.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(3826-3828)AAG>AAC		INO80 complex homolog 1							131.0	96.0	108.0					15																	41279293		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41279293C>G	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3828G>C	15.37:g.41279293C>G	ENSP00000355205:p.Lys1276Asn					INO80_uc010ucu.1_RNA	p.K1276N	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN			31	4041	-			1276			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.3828G>C	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548585	0.45383	.	.	ENSG00000128908	ENST00000263793;ENST00000361937;ENST00000401393	T;T	0.08008	3.14;3.14	4.97	4.06	0.47325	.	0.048494	0.85682	D	0.000000	T	0.13756	0.0333	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.20338	-1.0278	10	0.18276	T	0.48	.	8.5866	0.33662	0.0:0.7697:0.0:0.2303	.	1276	Q9ULG1	INO80_HUMAN	N	70;1276;1276	ENSP00000355205:K1276N;ENSP00000384686:K1276N	ENSP00000263793:K70N	K	-	3	2	INO80	39066585	1.000000	0.71417	1.000000	0.80357	0.387000	0.30353	1.289000	0.33307	1.472000	0.48140	-0.252000	0.11476	AAG		0.468	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		8	22	0	0	0	0	8	22				
MAPKBP1	23005	broad.mit.edu	37	15	42109197	42109197	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:42109197G>A	ENST00000456763.2	+	15	1889	c.1693G>A	c.(1693-1695)Gaa>Aaa	p.E565K	MAPKBP1_ENST00000457542.2_Missense_Mutation_p.E559K|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.E398K|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.E442K|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.E559K	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	565										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GACGCTGGACGAACACTCATC	0.602																																						uc001zok.3		NA																	0				central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10						c.(1693-1695)GAA>AAA		mitogen-activated protein kinase binding protein							102.0	97.0	98.0					15																	42109197		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42109197G>A	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1693G>A	15.37:g.42109197G>A	ENSP00000393099:p.Glu565Lys					MAPKBP1_uc001zoj.3_Missense_Mutation_p.E559K|MAPKBP1_uc010bcj.2_Missense_Mutation_p.E66K|MAPKBP1_uc010bci.2_Missense_Mutation_p.E559K|MAPKBP1_uc010udb.1_Missense_Mutation_p.E398K|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Missense_Mutation_p.E66K	p.E565K	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	15	1979	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	565			WD 9.		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.1693G>A	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	g	37	6.049275	0.97236	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16	5.8	5.8	0.92144	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.044676	0.85682	D	0.000000	T	0.71970	0.3403	L	0.51422	1.61	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.993;0.997;0.992;0.996	D;P;P;P;P	0.66602	0.945;0.707;0.866;0.887;0.841	T	0.71441	-0.4592	10	0.56958	D	0.05	-21.7066	20.063	0.97692	0.0:0.0:1.0:0.0	.	398;442;559;565;559	F8WC21;O60336-3;O60336-2;O60336;O60336-6	.;.;.;MABP1_HUMAN;.	K	559;442;398;565;559	ENSP00000397570:E559K;ENSP00000221214:E442K;ENSP00000260357:E398K;ENSP00000393099:E565K;ENSP00000426154:E559K	ENSP00000221214:E442K	E	+	1	0	MAPKBP1	39896489	1.000000	0.71417	0.996000	0.52242	0.887000	0.51463	9.866000	0.99616	2.735000	0.93741	0.655000	0.94253	GAA		0.602	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		8	110	0	0	0	0	8	110				
SPTBN5	51332	broad.mit.edu	37	15	42144929	42144929	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:42144929G>A	ENST00000320955.6	-	61	10579	c.10352C>T	c.(10351-10353)tCa>tTa	p.S3451L	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3451					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ATCTGACACTGAGTGCTGGGG	0.587																																						uc001zos.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(10246-10248)TCA>TTA		spectrin, beta, non-erythrocytic 5							125.0	128.0	127.0					15																	42144929		1961	4155	6116	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42144929G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.10352C>T	15.37:g.42144929G>A	ENSP00000317790:p.Ser3451Leu						p.S3416L	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	61	10580	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	3451			Spectrin 31.			Missense_Mutation	SNP	ENST00000320955.6	37	c.10247C>T		.	.	.	.	.	.	.	.	.	.	.	27.1	4.801163	0.90538	.	.	ENSG00000137877	ENST00000320955	T	0.69306	-0.39	4.73	4.73	0.59995	.	0.000000	0.64402	D	0.000009	D	0.82986	0.5156	M	0.84773	2.715	0.36900	D	0.890339	D	0.76494	0.999	D	0.70935	0.971	D	0.88517	0.3093	10	0.66056	D	0.02	.	16.5048	0.84268	0.0:0.0:1.0:0.0	.	3451	Q9NRC6	SPTN5_HUMAN	L	3451	ENSP00000317790:S3451L	ENSP00000317790:S3451L	S	-	2	0	SPTBN5	39932221	1.000000	0.71417	0.041000	0.18516	0.159000	0.22180	4.354000	0.59417	2.167000	0.68274	0.655000	0.94253	TCA		0.587	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		7	218	0	0	0	0	7	218				
CAPN3	825	broad.mit.edu	37	15	42678467	42678467	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:42678467G>A	ENST00000397163.3	+	3	701	c.482G>A	c.(481-483)gGg>gAg	p.G161E	CAPN3_ENST00000356316.3_Missense_Mutation_p.G74E|CAPN3_ENST00000349748.3_Missense_Mutation_p.G161E|CAPN3_ENST00000357568.3_Missense_Mutation_p.G161E|CAPN3_ENST00000318023.7_Missense_Mutation_p.G161E|RP11-164J13.1_ENST00000495723.1_RNA	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	161	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		AACTACGCAGGGATCTTCCAC	0.547											OREG0023085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001zpn.1		NA																	0				central_nervous_system(1)	1						c.(481-483)GGG>GAG		calpain 3 isoform a							120.0	102.0	108.0					15																	42678467		2203	4299	6502	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42678467G>A	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.482G>A	15.37:g.42678467G>A	ENSP00000380349:p.Gly161Glu		OREG0023085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	910	CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_Missense_Mutation_p.G74E|CAPN3_uc010udf.1_Missense_Mutation_p.G74E|CAPN3_uc010udg.1_Missense_Mutation_p.G74E|CAPN3_uc001zpo.1_Missense_Mutation_p.G161E|CAPN3_uc001zpp.1_Missense_Mutation_p.G161E	p.G161E	NM_000070	NP_000061	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	3	788	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	161			Calpain catalytic.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.482G>A	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	G	34	5.294653	0.95546	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.99680	-6.38;-6.38;-6.38;-6.38;-6.38	6.07	6.07	0.98685	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	U	0.000000	D	0.99891	0.9948	H	0.99425	4.56	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	0.96411	0.9304	10	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	74;74;161;161;161;74	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	E	74;161;161;161;161	ENSP00000348667:G74E;ENSP00000380349:G161E;ENSP00000350181:G161E;ENSP00000183936:G161E;ENSP00000326281:G161E	ENSP00000326281:G161E	G	+	2	0	CAPN3	40465759	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	9.797000	0.99108	2.890000	0.99128	0.650000	0.86243	GGG		0.547	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			18	95	0	0	0	0	18	95				
AP4E1	23431	broad.mit.edu	37	15	51226870	51226870	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:51226870G>C	ENST00000261842.5	+	8	1025	c.919G>C	c.(919-921)Gag>Cag	p.E307Q	AP4E1_ENST00000560508.1_Missense_Mutation_p.E232Q	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	307					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		ACGAAGAGCTGAGTTAAATCA	0.274																																						uc001zyx.1		NA																	0					0						c.(919-921)GAG>CAG		adaptor-related protein complex 4, epsilon 1							69.0	67.0	68.0					15																	51226870		2194	4275	6469	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51226870G>C	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.919G>C	15.37:g.51226870G>C	ENSP00000261842:p.Glu307Gln					AP4E1_uc010ufi.1_Missense_Mutation_p.E307Q|AP4E1_uc010ufj.1_RNA|AP4E1_uc010ufk.1_Intron	p.E307Q	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	8	949	+			307					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.919G>C	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443881	0.83993	.	.	ENSG00000081014	ENST00000261842	T	0.20200	2.09	6.03	6.03	0.97812	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	L	0.48362	1.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.02705	-1.1121	10	0.46703	T	0.11	-16.3165	19.5478	0.95307	0.0:0.0:1.0:0.0	.	307;307	B4DM48;Q9UPM8	.;AP4E1_HUMAN	Q	307	ENSP00000261842:E307Q	ENSP00000261842:E307Q	E	+	1	0	AP4E1	49014162	1.000000	0.71417	0.971000	0.41717	0.974000	0.67602	9.226000	0.95229	2.868000	0.98415	0.555000	0.69702	GAG		0.274	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			6	22	0	0	0	0	6	22				
MYO5A	4644	broad.mit.edu	37	15	52620057	52620057	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:52620057C>G	ENST00000399231.3	-	35	4870	c.4627G>C	c.(4627-4629)Gta>Cta	p.V1543L	MYO5A_ENST00000358212.6_Missense_Mutation_p.V1568L|MYO5A_ENST00000399233.2_Missense_Mutation_p.V1540L|MYO5A_ENST00000553916.1_Missense_Mutation_p.V1541L|MYO5A_ENST00000356338.6_Missense_Mutation_p.V1516L	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1543	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ACCTTCAATACTTTTTTGATG	0.368																																						uc002aby.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(4627-4629)GTA>CTA		myosin VA isoform 1							253.0	230.0	237.0					15																	52620057		1899	4127	6026	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52620057C>G		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.4627G>C	15.37:g.52620057C>G	ENSP00000382177:p.Val1543Leu					MYO5A_uc002abx.3_Missense_Mutation_p.V1516L|MYO5A_uc010ugd.1_Missense_Mutation_p.V265L	p.V1543L	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	35	4871	-			1543			Dilute.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.4627G>C	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672047	0.47781	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	5.93	5.93	0.95920	Dilute (1);	0.055394	0.64402	D	0.000001	T	0.24699	0.0599	L	0.52126	1.63	0.47009	D	0.999282	B;B;B	0.12630	0.004;0.006;0.001	B;B;B	0.17979	0.005;0.02;0.005	T	0.02774	-1.1112	10	0.42905	T	0.14	.	10.6663	0.45732	0.0:0.8587:0.0:0.1413	.	273;1543;1516	B5LY56;Q9Y4I1;Q9Y4I1-2	.;MYO5A_HUMAN;.	L	1543;1050;1540;1516;1568;1146;1541	ENSP00000382177:V1543L;ENSP00000382179:V1540L;ENSP00000348693:V1516L;ENSP00000350945:V1568L;ENSP00000451109:V1541L	ENSP00000348693:V1516L	V	-	1	0	MYO5A	50407349	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.915000	0.28638	2.814000	0.96858	0.591000	0.81541	GTA		0.368	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		26	102	0	0	0	0	26	102				
WDR72	256764	broad.mit.edu	37	15	53809925	53809925	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:53809925C>A	ENST00000396328.1	-	20	3519	c.3280G>T	c.(3280-3282)Gca>Tca	p.A1094S	WDR72_ENST00000557913.1_Missense_Mutation_p.A1091S|WDR72_ENST00000360509.5_Missense_Mutation_p.A1094S|WDR72_ENST00000559418.1_Missense_Mutation_p.A1104S|WDR72_ENST00000567224.1_5'UTR	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1094										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CAGACCTTTGCTATCCATGAA	0.383																																						uc002acj.2		NA																	0				lung(1)|skin(1)	2						c.(3280-3282)GCA>TCA		WD repeat domain 72							141.0	134.0	136.0					15																	53809925		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53809925C>A	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.3280G>T	15.37:g.53809925C>A	ENSP00000379619:p.Ala1094Ser					WDR72_uc010bfh.1_RNA	p.A1094S	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	20	3322	-			1094					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.3280G>T	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448968	0.43531	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.36157	1.27;1.27	5.85	3.93	0.45458	.	0.710821	0.12656	N	0.450016	T	0.28101	0.0693	L	0.36672	1.1	0.23186	N	0.998159	B	0.17465	0.022	B	0.16289	0.015	T	0.19160	-1.0314	10	0.34782	T	0.22	.	8.6433	0.33989	0.3038:0.623:0.0:0.0732	.	1094	Q3MJ13	WDR72_HUMAN	S	1094	ENSP00000379619:A1094S;ENSP00000353699:A1094S	ENSP00000353699:A1094S	A	-	1	0	WDR72	51597217	0.002000	0.14202	0.650000	0.29550	0.954000	0.61252	0.526000	0.22971	0.763000	0.33175	0.585000	0.79938	GCA		0.383	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		6	81	1	0	2.01e-06	2.65e-06	6	81				
GCNT3	9245	broad.mit.edu	37	15	59911580	59911580	+	Silent	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:59911580C>G	ENST00000396065.1	+	3	1591	c.1143C>G	c.(1141-1143)ccC>ccG	p.P381P	GCNT3_ENST00000560585.1_Silent_p.P381P	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	381					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTATGCTCCCTGCTCTGGAA	0.522																																						uc002age.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1141-1143)CCC>CCG		glucosaminyl (N-acetyl) transferase 3, mucin							142.0	131.0	135.0					15																	59911580		2190	4290	6480	SO:0001819	synonymous_variant	9245				protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr15:59911580C>G	AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.1143C>G	15.37:g.59911580C>G						GCNT3_uc002agd.2_Silent_p.P381P	p.P381P	NM_004751	NP_004742	O95395	GCNT3_HUMAN			3	1592	+			381			Lumenal (Potential).			Silent	SNP	ENST00000396065.1	37	c.1143C>G	CCDS10172.1																																																																																				0.522	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256068.1	NM_004751		37	122	0	0	0	0	37	122				
MTFMT	123263	broad.mit.edu	37	15	65316055	65316055	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:65316055C>T	ENST00000220058.4	-	3	510	c.497G>A	c.(496-498)gGa>gAa	p.G166E	MTFMT_ENST00000561025.1_Intron	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	166						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	AACTGTGTCTCCGTGAAGCAC	0.398																																						uc002aof.3		NA																	0				ovary(2)	2						c.(496-498)GGA>GAA		mitochondrial methionyl-tRNA formyltransferase	Tetrahydrofolic acid(DB00116)						91.0	91.0	91.0					15																	65316055		1934	4133	6067	SO:0001583	missense	123263					mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity	g.chr15:65316055C>T	AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707			29666	protein-coding gene	gene with protein product		611766				9614118	Standard	NM_139242		Approved	FMT1	uc002aof.4	Q96DP5		ENST00000220058.4:c.497G>A	15.37:g.65316055C>T	ENSP00000220058:p.Gly166Glu						p.G166E	NM_139242	NP_640335	Q96DP5	FMT_HUMAN			3	523	-			166					B7Z734	Missense_Mutation	SNP	ENST00000220058.4	37	c.497G>A	CCDS45280.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537048	0.65085	.	.	ENSG00000103707	ENST00000220058	D	0.90676	-2.71	5.4	5.4	0.78164	Formyl transferase, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.96824	0.8963	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97636	1.0145	10	0.87932	D	0	-17.287	18.32	0.90234	0.0:1.0:0.0:0.0	.	166	Q96DP5	FMT_HUMAN	E	166	ENSP00000220058:G166E	ENSP00000220058:G166E	G	-	2	0	MTFMT	63103108	1.000000	0.71417	0.998000	0.56505	0.037000	0.13140	6.761000	0.74945	2.688000	0.91661	0.655000	0.94253	GGA		0.398	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	NM_139242		6	27	0	0	0	0	6	27				
CYP11A1	1583	broad.mit.edu	37	15	74659879	74659879	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:74659879G>T	ENST00000268053.6	-	1	202	c.48C>A	c.(46-48)tgC>tgA	p.C16*	CTD-2311M21.2_ENST00000562009.1_RNA|CYP11A1_ENST00000541301.1_Nonsense_Mutation_p.C16*|CTD-2311M21.3_ENST00000568496.1_RNA|CYP11A1_ENST00000419019.2_5'Flank|CYP11A1_ENST00000467407.1_5'UTR|CYP11A1_ENST00000358632.4_5'Flank	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	16				C -> Y (in Ref. 1; AAA52162). {ECO:0000305}.	biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	GAAAGGTCTGGCAGCCTTTGA	0.652																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	uc002axt.2		NA																	0				ovary(2)	2						c.(46-48)TGC>TGA		cytochrome P450, family 11, subfamily A,	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						36.0	38.0	37.0					15																	74659879		2197	4296	6493	SO:0001587	stop_gained	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74659879G>T	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.48C>A	15.37:g.74659879G>T	ENSP00000268053:p.Cys16*					CYP11A1_uc002axs.2_5'Flank|CYP11A1_uc010bjm.1_5'Flank|CYP11A1_uc010bjn.1_RNA|CYP11A1_uc010bjo.1_Nonsense_Mutation_p.C16*|CYP11A1_uc010ulj.1_5'UTR|CYP11A1_uc010bjq.2_Nonsense_Mutation_p.C16*	p.C16*	NM_000781	NP_000772	P05108	CP11A_HUMAN			1	203	-			16	C -> Y (in Ref. 1; AAA52162).				A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Nonsense_Mutation	SNP	ENST00000268053.6	37	c.48C>A	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	g	15.59	2.879315	0.51801	.	.	ENSG00000140459	ENST00000268053;ENST00000541301;ENST00000433240;ENST00000416978	.	.	.	4.18	2.12	0.27331	.	0.684752	0.14839	N	0.295376	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-4.9695	5.1445	0.14977	0.2751:0.0:0.7249:0.0	.	.	.	.	X	16	.	ENSP00000268053:C16X	C	-	3	2	CYP11A1	72446932	0.879000	0.30193	0.018000	0.16275	0.061000	0.15899	1.196000	0.32198	0.966000	0.38159	0.543000	0.68304	TGC		0.652	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			6	39	1	0	3.6e-05	4.7e-05	6	39				
FANCI	55215	broad.mit.edu	37	15	89802003	89802003	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:89802003C>T	ENST00000310775.7	+	3	239	c.153C>T	c.(151-153)ttC>ttT	p.F51F	FANCI_ENST00000567996.1_Silent_p.F51F|FANCI_ENST00000300027.8_Silent_p.F51F|FANCI_ENST00000451393.2_5'UTR	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	51					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GAGCCATCTTCAAAGGTAATA	0.398								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc010bnp.1		NA																	0				ovary(2)	2						c.(151-153)TTC>TTT	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group I isoform							141.0	140.0	140.0					15																	89802003		2200	4299	6499	SO:0001819	synonymous_variant	55215	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89802003C>T	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.153C>T	15.37:g.89802003C>T						FANCI_uc002bnm.1_Silent_p.F51F|FANCI_uc002bnn.1_RNA|FANCI_uc002bno.2_Silent_p.F51F	p.F51F	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN			3	243	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		51					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Silent	SNP	ENST00000310775.7	37	c.153C>T	CCDS45346.1																																																																																				0.398	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		14	93	0	0	0	0	14	93				
TICRR	90381	broad.mit.edu	37	15	90135363	90135363	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:90135363C>G	ENST00000268138.7	+	5	1602	c.1497C>G	c.(1495-1497)ttC>ttG	p.F499L	TICRR_ENST00000560985.1_Missense_Mutation_p.F498L|RP11-429B14.1_ENST00000559041.1_RNA			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	499					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GGTTTCCTTTCTGTAACATCA	0.443																																						uc002boe.2		NA																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(1495-1497)TTC>TTG		leucine-rich repeat kinase 1							129.0	125.0	126.0					15																	90135363		2009	4207	6216	SO:0001583	missense	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90135363C>G	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.1497C>G	15.37:g.90135363C>G	ENSP00000268138:p.Phe499Leu						p.F499L	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		5	1497	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		499					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.1497C>G	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	C	1.942	-0.443239	0.04604	.	.	ENSG00000140534	ENST00000268138	T	0.13089	2.62	5.25	2.31	0.28768	.	0.466081	0.24559	N	0.037500	T	0.04998	0.0134	N	0.14661	0.345	0.28447	N	0.916533	B	0.13594	0.008	B	0.17722	0.019	T	0.37009	-0.9724	10	0.06099	T	0.92	-0.1878	1.6076	0.02687	0.1164:0.3804:0.2148:0.2884	.	499	Q7Z2Z1	TICRR_HUMAN	L	499	ENSP00000268138:F499L	ENSP00000268138:F499L	F	+	3	2	C15orf42	87936367	0.869000	0.29996	0.243000	0.24186	0.491000	0.33493	0.224000	0.17738	0.613000	0.30089	0.491000	0.48974	TTC		0.443	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		3	45	0	0	0	0	3	45				
LRRC28	123355	broad.mit.edu	37	15	99903443	99903443	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:99903443A>T	ENST00000301981.3	+	9	1244	c.1004A>T	c.(1003-1005)gAg>gTg	p.E335V	LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000422500.2_Missense_Mutation_p.E266V|LRRC28_ENST00000447360.2_Intron	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	335										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			CCCTTGAGAGAGACGCCAATG	0.582																																						uc002bva.1		NA																	0					0						c.(1003-1005)GAG>GTG		leucine rich repeat containing 28							97.0	83.0	87.0					15																	99903443		2197	4297	6494	SO:0001583	missense	123355							g.chr15:99903443A>T	AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.1004A>T	15.37:g.99903443A>T	ENSP00000304923:p.Glu335Val					LRRC28_uc010urs.1_RNA|LRRC28_uc002bvb.1_Missense_Mutation_p.E181V|LRRC28_uc010urt.1_Missense_Mutation_p.E149V|LRRC28_uc002bvc.1_Intron|LRRC28_uc010uru.1_Missense_Mutation_p.E266V|LRRC28_uc002bvd.1_Intron	p.E335V	NM_144598	NP_653199	Q86X40	LRC28_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00106)		9	1159	+	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		335					A8KA22|Q6UY49|Q6ZSS6	Missense_Mutation	SNP	ENST00000301981.3	37	c.1004A>T	CCDS10380.1	.	.	.	.	.	.	.	.	.	.	A	30	5.057377	0.93846	.	.	ENSG00000168904	ENST00000301981;ENST00000422500	T;T	0.42513	0.97;1.43	5.76	5.76	0.90799	.	0.045250	0.85682	D	0.000000	T	0.60932	0.2307	L	0.56769	1.78	0.80722	D	1	D;D	0.76494	0.999;0.994	D;P	0.78314	0.991;0.796	T	0.61407	-0.7069	10	0.51188	T	0.08	.	15.2508	0.73545	1.0:0.0:0.0:0.0	.	266;335	B4DHL3;Q86X40	.;LRC28_HUMAN	V	335;266	ENSP00000304923:E335V;ENSP00000398606:E266V	ENSP00000304923:E335V	E	+	2	0	LRRC28	97720966	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.665000	0.91144	2.194000	0.70268	0.528000	0.53228	GAG		0.582	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313546.1	NM_144598		7	71	0	0	0	0	7	71				
CAPN15	6650	broad.mit.edu	37	16	597026	597026	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:597026C>T	ENST00000219611.2	+	4	551	c.188C>T	c.(187-189)gCc>gTc	p.A63V	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	63					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GGCAAGGAGGCCTGCGAGGTG	0.692																																						uc002chi.2		NA																	0				ovary(1)|breast(1)	2						c.(187-189)GCC>GTC		small optic lobes							23.0	24.0	24.0					16																	597026		2180	4294	6474	SO:0001583	missense	6650				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:597026C>T	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.188C>T	16.37:g.597026C>T	ENSP00000219611:p.Ala63Val					SOLH_uc002chh.1_Missense_Mutation_p.A63V	p.A63V	NM_005632	NP_005623	O75808	CAN15_HUMAN			4	551	+		Hepatocellular(780;0.00335)	63			RanBP2-type 2.		B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	c.188C>T	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	c	13.11	2.139016	0.37728	.	.	ENSG00000103326	ENST00000219611;ENST00000397687	T	0.40756	1.02	5.1	4.11	0.48088	Zinc finger, RanBP2-type (2);	0.757148	0.11891	N	0.519631	T	0.28732	0.0712	L	0.36672	1.1	0.35049	D	0.760435	B	0.30021	0.265	B	0.26864	0.074	T	0.14117	-1.0484	10	0.02654	T	1	.	12.051	0.53507	0.1713:0.8287:0.0:0.0	.	63	O75808	CAN15_HUMAN	V	63	ENSP00000219611:A63V	ENSP00000219611:A63V	A	+	2	0	SOLH	537027	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	3.471000	0.53107	2.359000	0.80004	0.556000	0.70494	GCC		0.692	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		5	25	0	0	0	0	5	25				
ZNF174	7727	broad.mit.edu	37	16	3452340	3452340	+	Missense_Mutation	SNP	G	G	C	rs532182949	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:3452340G>C	ENST00000268655.4	+	1	921	c.336G>C	c.(334-336)atG>atC	p.M112I	ZNF174_ENST00000572544.1_Missense_Mutation_p.M112I|ZSCAN32_ENST00000422427.2_5'Flank|ZNF174_ENST00000571936.1_Missense_Mutation_p.M112I|ZSCAN32_ENST00000573830.1_5'Flank|ZNF174_ENST00000344823.5_Missense_Mutation_p.M112I|ZSCAN32_ENST00000439568.2_5'Flank|ZNF174_ENST00000575752.1_Missense_Mutation_p.M112I|ZSCAN32_ENST00000396852.4_5'Flank|ZSCAN32_ENST00000304926.3_5'Flank	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	112	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						GATGTCCAATGAGCAGCAAGG	0.542																																						uc002cvc.2		NA																	0					0						c.(334-336)ATG>ATC		zinc finger protein 174 isoform a							70.0	71.0	71.0					16																	3452340		2197	4300	6497	SO:0001583	missense	7727				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:3452340G>C	U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"""-"", ""Zinc fingers, C2H2-type"""	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.336G>C	16.37:g.3452340G>C	ENSP00000268655:p.Met112Ile					ZNF434_uc002cux.3_5'Flank|ZNF434_uc010uwx.1_5'Flank|ZNF434_uc002cuy.3_5'Flank|ZNF434_uc002cuz.2_5'Flank|ZNF434_uc010uwy.1_5'Flank|ZNF434_uc010uxa.1_5'Flank|ZNF174_uc002cva.2_Missense_Mutation_p.M112I|ZNF174_uc002cvb.2_Missense_Mutation_p.M112I	p.M112I	NM_003450	NP_003441	Q15697	ZN174_HUMAN			1	1151	+			112			SCAN box.		Q53Y68|Q9BQ34	Missense_Mutation	SNP	ENST00000268655.4	37	c.336G>C	CCDS10504.1	.	.	.	.	.	.	.	.	.	.	G	7.784	0.710183	0.15239	.	.	ENSG00000103343	ENST00000344823;ENST00000268655	T;T	0.04119	3.7;3.7	4.5	1.43	0.22495	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	1.577390	0.03389	N	0.201565	T	0.04137	0.0115	N	0.14661	0.345	0.09310	N	0.999999	B;B;B	0.19817	0.003;0.039;0.002	B;B;B	0.16722	0.009;0.014;0.016	T	0.40701	-0.9549	10	0.72032	D	0.01	.	6.2332	0.20747	0.1624:0.0:0.6905:0.1471	.	112;112;112	Q15697;Q15697-2;Q8IZN5	ZN174_HUMAN;.;.	I	112	ENSP00000339781:M112I;ENSP00000268655:M112I	ENSP00000268655:M112I	M	+	3	0	ZNF174	3392341	0.625000	0.27111	0.146000	0.22360	0.483000	0.33249	1.624000	0.37018	0.387000	0.25024	0.655000	0.94253	ATG		0.542	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251510.1	NM_003450		19	57	0	0	0	0	19	57				
PRM2	5620	broad.mit.edu	37	16	11370049	11370049	+	Missense_Mutation	SNP	C	C	T	rs201640369		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:11370049C>T	ENST00000241808.4	-	1	288	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	RMI2_ENST00000572173.1_Intron|PRM2_ENST00000435245.2_Missense_Mutation_p.R60Q|PRM3_ENST00000327157.2_5'Flank|SNORA48_ENST00000390926.1_RNA	NM_002762.2	NP_002753.2	P04554	PRM2_HUMAN	protamine 2	60					cell differentiation (GO:0030154)|chromosome condensation (GO:0030261)|DNA packaging (GO:0006323)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						CAGCCTCCTTCGAGAGCAGTG	0.642													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15896	0.0		0.0	False		,,,				2504	0.0					uc002dau.1		NA																	1	Whole gene deletion(1)		haematopoietic_and_lymphoid_tissue(1)		0						c.(178-180)CGA>CAA		protamine 2							74.0	78.0	77.0					16																	11370049		2135	4256	6391	SO:0001583	missense	5620				chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	g.chr16:11370049C>T		CCDS42118.1, CCDS66944.1	16p13.13	2013-10-17			ENSG00000122304	ENSG00000122304			9448	protein-coding gene	gene with protein product	"""cancer/testis antigen family 94, member 2"""	182890				16632464	Standard	NM_001286356		Approved	CT94.2	uc002dau.1	P04554	OTTHUMG00000172317	ENST00000241808.4:c.179G>A	16.37:g.11370049C>T	ENSP00000241808:p.Arg60Gln					C16orf75_uc002daq.1_Intron|PRM3_uc002dat.1_5'Flank|PRM2_uc010bus.1_Missense_Mutation_p.R60Q	p.R60Q	NM_002762	NP_002753	P04554	PRM2_HUMAN			1	289	-			60					Q6ZMM0	Missense_Mutation	SNP	ENST00000241808.4	37	c.179G>A	CCDS42118.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	8.453	0.853607	0.17106	.	.	ENSG00000122304	ENST00000241808;ENST00000435245	.	.	.	3.19	0.0614	0.14340	.	0.501217	0.14717	N	0.302574	T	0.27241	0.0668	L	0.36672	1.1	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.11329	0.003;0.006	T	0.18147	-1.0346	9	0.49607	T	0.09	-4.2841	3.6998	0.08378	0.0:0.5529:0.2055:0.2416	.	60;60	Q6ZMM0;P04554	.;PRM2_HUMAN	Q	60	.	ENSP00000241808:R60Q	R	-	2	0	PRM2	11277550	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.007000	0.13174	0.059000	0.16252	-0.320000	0.08662	CGA		0.642	PRM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417808.1			25	76	0	0	0	0	25	76				
ABCC6	368	broad.mit.edu	37	16	16255391	16255391	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:16255391C>T	ENST00000205557.7	-	25	3566	c.3537G>A	c.(3535-3537)ggG>ggA	p.G1179G		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1179	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	CCAGGCCATTCCCCAGGAGCT	0.602																																						uc002den.3		NA																	0				skin(2)|ovary(1)	3						c.(3535-3537)GGG>GGA		ATP-binding cassette, sub-family C, member 6							66.0	62.0	63.0					16																	16255391		2197	4300	6497	SO:0001819	synonymous_variant	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16255391C>T	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.3537G>A	16.37:g.16255391C>T						ABCC6_uc010bvo.2_RNA	p.G1179G	NM_001171	NP_001162	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	25	3574	-			1179			Helical; Name=16; (By similarity).|ABC transmembrane type-1 2.		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	ENST00000205557.7	37	c.3537G>A	CCDS10568.1																																																																																				0.602	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			9	54	0	0	0	0	9	54				
ERN2	10595	broad.mit.edu	37	16	23706160	23706160	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:23706160G>A	ENST00000457008.2	-	16	1871	c.1833C>T	c.(1831-1833)ctC>ctT	p.L611L	ERN2_ENST00000256797.4_Silent_p.L711L					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GCTTCTTGCAGAGGCCGAAGT	0.647																																						uc002dma.3		NA																	0				large_intestine(2)|lung(2)|ovary(2)	6						c.(2131-2133)CTC>CTT		endoplasmic reticulum to nucleus signalling 2							30.0	32.0	31.0					16																	23706160		2197	4300	6497	SO:0001819	synonymous_variant	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.chr16:23706160G>A	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.1833C>T	16.37:g.23706160G>A						ERN2_uc010bxp.2_Silent_p.L659L	p.L711L	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	17	2302	-			663			Protein kinase.|Cytoplasmic (Potential).			Silent	SNP	ENST00000457008.2	37	c.2133C>T																																																																																					0.647	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			10	31	0	0	0	0	10	31				
GTF3C1	2975	broad.mit.edu	37	16	27480793	27480793	+	Silent	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:27480793C>G	ENST00000356183.4	-	32	4908	c.4893G>C	c.(4891-4893)cgG>cgC	p.R1631R	GTF3C1_ENST00000561623.1_Silent_p.R1631R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1631					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCTCCATGCTCCGGCGCTTGC	0.602																																						uc002dov.1		NA																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(4891-4893)CGG>CGC		general transcription factor IIIC, polypeptide							174.0	140.0	152.0					16																	27480793		2197	4300	6497	SO:0001819	synonymous_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27480793C>G	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.4893G>C	16.37:g.27480793C>G						GTF3C1_uc002dou.2_Silent_p.R1631R	p.R1631R	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			32	4933	-			1631					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	c.4893G>C	CCDS32414.1																																																																																				0.602	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		15	53	0	0	0	0	15	53				
MAZ	4150	broad.mit.edu	37	16	29821426	29821426	+	Silent	SNP	G	G	A	rs530039776|rs370462022|rs532656391	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:29821426G>A	ENST00000322945.6	+	5	1473	c.1308G>A	c.(1306-1308)gcG>gcA	p.A436A	MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000566906.2_Intron|AC009133.20_ENST00000569039.1_RNA|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000568544.1_Silent_p.A37A|AC009133.15_ENST00000566537.1_RNA|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000562337.1_Silent_p.A131A|PRRT2_ENST00000358758.7_5'Flank|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000219782.6_3'UTR|MAZ_ENST00000545521.1_Silent_p.A413A|PRRT2_ENST00000300797.6_5'Flank|PRRT2_ENST00000567659.1_5'Flank	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	436	Poly-Ala.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CAATggcggcggcagcggcag	0.667													G|||	6	0.00119808	0.0023	0.0014	5008	,	,		11055	0.0		0.002	False		,,,				2504	0.0				Colon(72;875 1167 15364 30899 37091)	uc002dty.2		NA																	0				ovary(1)	1						c.(1306-1308)GCG>GCA		MYC-associated zinc finger protein isoform 1							6.0	5.0	6.0					16																	29821426		1993	4000	5993	SO:0001819	synonymous_variant	4150				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr16:29821426G>A	M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1308G>A	16.37:g.29821426G>A						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_Silent_p.A413A|MAZ_uc002dtw.2_Intron|MAZ_uc002dtx.2_3'UTR|MAZ_uc010bzg.2_Silent_p.A131A|MAZ_uc002dtz.1_3'UTR|MAZ_uc002dua.2_3'UTR|MAZ_uc010vdy.1_Silent_p.A37A|uc002duc.1_RNA|PRRT2_uc002dud.2_5'Flank|PRRT2_uc002due.3_5'Flank|PRRT2_uc002duf.1_5'Flank	p.A436A	NM_002383	NP_002374	P56270	MAZ_HUMAN			5	1476	+			436			Poly-Ala.		A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Silent	SNP	ENST00000322945.6	37	c.1308G>A	CCDS42143.1																																																																																				0.667	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	NM_002383		15	41	0	0	0	0	15	41				
MAZ	4150	broad.mit.edu	37	16	29821429	29821429	+	Silent	SNP	A	A	G	rs530039776|rs370462022|rs201662748	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:29821429A>G	ENST00000322945.6	+	5	1476	c.1311A>G	c.(1309-1311)gcA>gcG	p.A437A	MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000566906.2_Intron|AC009133.20_ENST00000569039.1_RNA|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000568544.1_Silent_p.A38A|AC009133.15_ENST00000566537.1_RNA|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000562337.1_Silent_p.A132A|PRRT2_ENST00000358758.7_5'Flank|MAZ_ENST00000563402.1_Splice_Site|MAZ_ENST00000219782.6_3'UTR|MAZ_ENST00000545521.1_Silent_p.A414A|PRRT2_ENST00000300797.6_5'Flank|PRRT2_ENST00000567659.1_5'Flank	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	437	Poly-Ala.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						Tggcggcggcagcggcagcgg	0.672													G|||	66	0.0131789	0.0038	0.0058	5008	,	,		10494	0.0079		0.003	False		,,,				2504	0.047				Colon(72;875 1167 15364 30899 37091)	uc002dty.2		NA																	0				ovary(1)	1						c.(1309-1311)GCA>GCG		MYC-associated zinc finger protein isoform 1		G	,	7,4203		0,7,2098	20.0	25.0	24.0		,1311	-7.8	0.0	16		24	10,8404		0,10,4197	no	utr-3,coding-synonymous	MAZ	NM_001042539.1,NM_002383.2	,	0,17,6295	GG,GA,AA		0.1188,0.1663,0.1347	,	,437/478	29821429	17,12607	2105	4207	6312	SO:0001819	synonymous_variant	4150				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr16:29821429A>G	M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1311A>G	16.37:g.29821429A>G						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_Silent_p.A414A|MAZ_uc002dtw.2_Intron|MAZ_uc002dtx.2_3'UTR|MAZ_uc010bzg.2_Silent_p.A132A|MAZ_uc002dtz.1_3'UTR|MAZ_uc002dua.2_3'UTR|MAZ_uc010vdy.1_Silent_p.A38A|uc002duc.1_RNA|PRRT2_uc002dud.2_5'Flank|PRRT2_uc002due.3_5'Flank|PRRT2_uc002duf.1_5'Flank	p.A437A	NM_002383	NP_002374	P56270	MAZ_HUMAN			5	1479	+			437			Poly-Ala.		A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Silent	SNP	ENST00000322945.6	37	c.1311A>G	CCDS42143.1																																																																																				0.672	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	NM_002383		13	40	0	0	0	0	13	40				
ZNF629	23361	broad.mit.edu	37	16	30794731	30794731	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:30794731G>A	ENST00000262525.4	-	3	1125	c.918C>T	c.(916-918)ctC>ctT	p.L306L		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	306					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(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			TCTGGTGCTTGAGGAGGTTGT	0.642																																						uc002dzs.1		NA																	0					0						c.(916-918)CTC>CTT		zinc finger protein 629							86.0	92.0	90.0					16																	30794731		2190	4300	6490	SO:0001819	synonymous_variant	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30794731G>A	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.918C>T	16.37:g.30794731G>A							p.L306L	NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	1126	-			306			C2H2-type 6.		Q15938	Silent	SNP	ENST00000262525.4	37	c.918C>T	CCDS45463.1																																																																																				0.642	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		18	95	0	0	0	0	18	95				
CNOT1	23019	broad.mit.edu	37	16	58577583	58577583	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:58577583C>A	ENST00000317147.5	-	31	4694	c.4362G>T	c.(4360-4362)atG>atT	p.M1454I	CNOT1_ENST00000441024.2_Missense_Mutation_p.M1454I|CNOT1_ENST00000569240.1_Missense_Mutation_p.M1449I|CNOT1_ENST00000245138.4_Missense_Mutation_p.M305I	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1454	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGCATGTAATCATAGCCATTC	0.438																																						uc002env.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(4360-4362)ATG>ATT		CCR4-NOT transcription complex, subunit 1							154.0	129.0	137.0					16																	58577583		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58577583C>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4362G>T	16.37:g.58577583C>A	ENSP00000320949:p.Met1454Ile					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.M1449I|CNOT1_uc002enx.2_Missense_Mutation_p.M1454I|CNOT1_uc010vik.1_Missense_Mutation_p.M411I	p.M1454I	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	31	4655	-			1454					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.4362G>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246874	0.80024	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200;ENST00000441024	T;T	0.47177	0.9;0.85	5.25	5.25	0.73442	CCR4-Not complex, Not1 subunit, domain of unknown function DUF3819 (1);	0.000000	0.85682	D	0.000000	T	0.62925	0.2468	M	0.82923	2.615	0.80722	D	1	P;P;P;P	0.47762	0.807;0.794;0.9;0.878	B;B;P;B	0.48425	0.256;0.31;0.577;0.441	T	0.69446	-0.5143	10	0.56958	D	0.05	.	18.8373	0.92168	0.0:1.0:0.0:0.0	.	305;1454;1454;1449	B5MDN3;A5YKK6-4;A5YKK6;A5YKK6-2	.;.;CNOT1_HUMAN;.	I	1454;305;1449;1454	ENSP00000320949:M1454I;ENSP00000413113:M1454I	ENSP00000245138:M305I	M	-	3	0	CNOT1	57135084	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.792000	0.85828	2.442000	0.82660	0.585000	0.79938	ATG		0.438	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		11	27	1	0	6.4e-05	8.34e-05	11	27				
CDH3	1001	broad.mit.edu	37	16	68712542	68712542	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:68712542G>T	ENST00000264012.4	+	5	1073	c.529G>T	c.(529-531)Gag>Tag	p.E177*	CDH3_ENST00000581171.1_Nonsense_Mutation_p.E122*|CDH3_ENST00000429102.2_Nonsense_Mutation_p.E177*	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	177	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		GGACCGGGAGGAGATTGCCAA	0.582																																						uc002ewf.2		NA																	2	Unknown(2)	p.?(1)	breast(2)	ovary(3)|breast(1)|skin(1)	5						c.(529-531)GAG>TAG		cadherin 3, type 1 preproprotein							87.0	90.0	89.0					16																	68712542		2198	4300	6498	SO:0001587	stop_gained	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68712542G>T	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.529G>T	16.37:g.68712542G>T	ENSP00000264012:p.Glu177*					CDH3_uc010vli.1_Nonsense_Mutation_p.E122*	p.E177*	NM_001793	NP_001784	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	5	1661	+		Ovarian(137;0.0564)	177			Cadherin 1.|Extracellular (Potential).		B2R6F4|Q05DI6	Nonsense_Mutation	SNP	ENST00000264012.4	37	c.529G>T	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	G	39	7.479070	0.98309	.	.	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	.	.	.	5.64	3.42	0.39159	.	0.161413	0.28914	N	0.013737	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7521	0.23493	0.7341:0.0:0.2659:0.0	.	.	.	.	X	177;177;122	.	ENSP00000264012:E177X	E	+	1	0	CDH3	67270043	0.006000	0.16342	1.000000	0.80357	0.992000	0.81027	-0.170000	0.09897	0.570000	0.29347	-0.312000	0.09012	GAG		0.582	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		17	83	1	0	2.49e-13	3.39e-13	17	83				
TANGO6	79613	broad.mit.edu	37	16	68877575	68877575	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:68877575C>T	ENST00000261778.1	+	1	67	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	19						integral component of membrane (GO:0016021)											CGGTCTGGATCGGATTTTGGA	0.697																																						uc002ewi.3		NA																	0					0						c.(55-57)CGG>TGG		transmembrane and coiled-coil domains 7							75.0	88.0	84.0					16																	68877575		1959	4145	6104	SO:0001583	missense	79613					integral to membrane	binding	g.chr16:68877575C>T		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.55C>T	16.37:g.68877575C>T	ENSP00000261778:p.Arg19Trp					TMCO7_uc002ewh.2_Missense_Mutation_p.R19W	p.R19W	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)	1	67	+		Ovarian(137;0.0568)	19					Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	c.55C>T	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062438	0.55432	.	.	ENSG00000103047	ENST00000261778	.	.	.	5.09	-1.17	0.09648	.	.	.	.	.	T	0.17195	0.0413	L	0.36672	1.1	0.18873	N	0.999981	D	0.56968	0.978	B	0.33799	0.17	T	0.19647	-1.0299	8	0.72032	D	0.01	0.0017	7.6878	0.28550	0.4283:0.2923:0.2794:0.0	.	19	Q9C0B7	TMCO7_HUMAN	W	19	.	ENSP00000261778:R19W	R	+	1	2	TMCO7	67435076	0.918000	0.31147	0.333000	0.25482	0.659000	0.38960	0.042000	0.13949	0.044000	0.15775	0.555000	0.69702	CGG		0.697	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		15	131	0	0	0	0	15	131				
ZC3H18	124245	broad.mit.edu	37	16	88665043	88665043	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:88665043G>A	ENST00000301011.5	+	5	1053	c.853G>A	c.(853-855)Gat>Aat	p.D285N	ZC3H18_ENST00000452588.2_Missense_Mutation_p.D309N	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	285	Pro-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GCCGGTAGTTGATGAAATTTT	0.468																																					Ovarian(121;375 2276 20373 38669)	uc002fky.2		NA																	0				skin(1)	1						c.(853-855)GAT>AAT		zinc finger CCCH-type containing 18							40.0	37.0	38.0					16																	88665043		2198	4300	6498	SO:0001583	missense	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88665043G>A	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.853G>A	16.37:g.88665043G>A	ENSP00000301011:p.Asp285Asn					ZC3H18_uc010voy.1_Missense_Mutation_p.D168N|ZC3H18_uc010voz.1_Missense_Mutation_p.D309N	p.D285N	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	5	1053	+			285			Pro-rich.		Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.853G>A	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977948	0.74360	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	T;T	0.31247	1.51;1.5	4.86	4.86	0.63082	.	0.099192	0.64402	D	0.000002	T	0.37679	0.1012	L	0.51422	1.61	0.58432	D	0.999994	P;P;P	0.45902	0.868;0.675;0.868	P;B;P	0.46758	0.526;0.298;0.526	T	0.20840	-1.0263	10	0.54805	T	0.06	-20.0238	16.5273	0.84334	0.0:0.0:1.0:0.0	.	309;309;285	E7ERS3;B4DTK7;Q86VM9	.;.;ZCH18_HUMAN	N	285;309;309;168	ENSP00000301011:D285N;ENSP00000416951:D309N	ENSP00000289509:D309N	D	+	1	0	ZC3H18	87192544	1.000000	0.71417	0.989000	0.46669	0.828000	0.46876	8.733000	0.91539	2.398000	0.81561	0.561000	0.74099	GAT		0.468	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		5	13	0	0	0	0	5	13				
VPS53	55275	broad.mit.edu	37	17	530477	530477	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:530477C>T	ENST00000571805.1	-	10	1047	c.911G>A	c.(910-912)cGc>cAc	p.R304H	VPS53_ENST00000291074.5_Missense_Mutation_p.R275H|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000437048.2_Missense_Mutation_p.R304H|VPS53_ENST00000446250.2_Missense_Mutation_p.R106H|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000401468.3_Intron			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	304					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TGGAAACATGCGGCCGTATTT	0.498																																						uc002frn.2		NA																	0					0						c.(910-912)CGC>CAC		vacuolar protein sorting 53 isoform 2							189.0	154.0	166.0					17																	530477		2203	4300	6503	SO:0001583	missense	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:530477C>T		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.911G>A	17.37:g.530477C>T	ENSP00000459312:p.Arg304His					VPS53_uc002frk.2_5'UTR|VPS53_uc010cjo.1_Missense_Mutation_p.R304H|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Missense_Mutation_p.R275H|VPS53_uc002fro.2_Missense_Mutation_p.R106H|VPS53_uc010cjp.1_Intron	p.R304H	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	10	1058	-			304					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	ENST00000571805.1	37	c.911G>A		.	.	.	.	.	.	.	.	.	.	C	18.44	3.624093	0.66901	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074;ENST00000389040	T;T;T;T	0.31247	1.5;1.5;1.5;1.51	6.04	6.04	0.98038	Vps53-like, N-terminal (1);	0.094216	0.85682	D	0.000000	T	0.33440	0.0863	L	0.49350	1.555	0.80722	D	1	B;B;B;B	0.21071	0.051;0.009;0.011;0.009	B;B;B;B	0.15870	0.014;0.013;0.013;0.013	T	0.02797	-1.1109	10	0.42905	T	0.14	-14.4306	19.583	0.95478	0.0:1.0:0.0:0.0	.	304;106;304;275	Q5VIR6-4;G3V0H8;Q5VIR6;Q5VIR6-2	.;.;VPS53_HUMAN;.	H	304;106;275;256	ENSP00000401435:R304H;ENSP00000394386:R106H;ENSP00000291074:R275H;ENSP00000373692:R256H	ENSP00000291074:R275H	R	-	2	0	VPS53	477227	0.998000	0.40836	0.963000	0.40424	0.964000	0.63967	3.737000	0.55060	2.873000	0.98535	0.563000	0.77884	CGC		0.498	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		20	53	0	0	0	0	20	53				
SLC25A11	8402	broad.mit.edu	37	17	4843164	4843164	+	Silent	SNP	C	C	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:4843164C>A	ENST00000225665.7	-	1	382	c.42G>T	c.(40-42)ggG>ggT	p.G14G	RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000576229.1_5'Flank|RNF167_ENST00000262482.6_5'Flank|RNF167_ENST00000571816.1_5'Flank|SLC25A11_ENST00000544061.2_Silent_p.G14G|RNF167_ENST00000572430.1_5'Flank	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	14					alpha-ketoglutarate transport (GO:0015742)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxoglutarate:malate antiporter activity (GO:0015367)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						TACGGGGCTTCCCGTCTATCC	0.706																																					Esophageal Squamous(144;1178 2388 18010 48797)	uc002fzo.1		NA																	0					0						c.(40-42)GGG>GGT		solute carrier family 25 member 11 isoform 1							17.0	19.0	18.0					17																	4843164		2199	4297	6496	SO:0001819	synonymous_variant	8402				gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity	g.chr17:4843164C>A	X66114	CCDS11059.1, CCDS54069.1	17p13.3	2013-05-22			ENSG00000108528	ENSG00000108528		"""Solute carriers"""	10981	protein-coding gene	gene with protein product		604165		SLC20A4		10072597, 1457818	Standard	NM_003562		Approved	OGC	uc002fzo.2	Q02978	OTTHUMG00000099395	ENST00000225665.7:c.42G>T	17.37:g.4843164C>A						SLC25A11_uc002fzp.1_5'UTR|RNF167_uc002fzq.2_5'Flank|RNF167_uc002fzr.2_5'Flank|RNF167_uc002fzs.2_5'Flank|RNF167_uc002fzt.2_5'Flank|RNF167_uc002fzu.2_5'Flank|RNF167_uc002fzv.2_5'Flank|RNF167_uc002fzw.1_5'Flank|RNF167_uc002fzx.2_5'Flank	p.G14G	NM_003562	NP_003553	Q02978	M2OM_HUMAN			1	155	-			14					F5GY65|O75537|Q969P7	Silent	SNP	ENST00000225665.7	37	c.42G>T	CCDS11059.1																																																																																				0.706	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216852.4	NM_003562		4	25	1	0	1.24e-05	1.63e-05	4	25				
C17orf74	201243	broad.mit.edu	37	17	7330298	7330298	+	Missense_Mutation	SNP	C	C	T	rs199722928	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:7330298C>T	ENST00000333870.3	+	3	1062	c.988C>T	c.(988-990)Cgg>Tgg	p.R330W	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	330						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)				CTCGGTGTCCCGGAACGCCCG	0.692													C|||	4	0.000798722	0.0	0.0058	5008	,	,		14269	0.0		0.0	False		,,,				2504	0.0					uc002ggw.2		NA																	0					0						c.(988-990)CGG>TGG		hypothetical protein LOC201243		C	TRP/ARG	0,3924		0,0,1962	18.0	21.0	20.0		988	2.5	0.0	17		20	2,8262		0,2,4130	no	missense	C17orf74	NM_175734.4	101	0,2,6092	TT,TC,CC		0.0242,0.0,0.0164	benign	330/502	7330298	2,12186	1962	4132	6094	SO:0001583	missense	201243					integral to membrane		g.chr17:7330298C>T	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.988C>T	17.37:g.7330298C>T	ENSP00000328061:p.Arg330Trp					FGF11_uc010vtw.1_Intron	p.R330W	NM_175734	NP_783861	Q0P670	CQ074_HUMAN			3	1061	+		Prostate(122;0.157)	330						Missense_Mutation	SNP	ENST00000333870.3	37	c.988C>T	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378521	0.24944	0.0	2.42E-4	ENSG00000184560	ENST00000333870	T	0.38077	1.16	4.59	2.47	0.30058	.	0.222920	0.22547	N	0.058644	T	0.38558	0.1045	N	0.20986	0.625	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.06041	-1.0849	10	0.41790	T	0.15	-6.9677	5.8524	0.18699	0.2016:0.6907:0.0:0.1077	.	330	Q0P670	CQ074_HUMAN	W	330	ENSP00000328061:R330W	ENSP00000328061:R330W	R	+	1	2	C17orf74	7271022	0.003000	0.15002	0.005000	0.12908	0.044000	0.14063	1.157000	0.31724	0.995000	0.38917	0.491000	0.48974	CGG		0.692	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		16	37	0	0	0	0	16	37				
DNAH9	1770	broad.mit.edu	37	17	11584154	11584154	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:11584154G>C	ENST00000262442.4	+	19	3759	c.3691G>C	c.(3691-3693)Gat>Cat	p.D1231H	DNAH9_ENST00000454412.2_Missense_Mutation_p.D1231H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1231	Stem. {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)		CACAGCCTTCGATGCAGAACA	0.522																																						uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(3691-3693)GAT>CAT		dynein, axonemal, heavy chain 9 isoform 2							67.0	55.0	59.0					17																	11584154		2203	4300	6503	SO:0001583	missense	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.chr17:11584154G>C	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.3691G>C	17.37:g.11584154G>C	ENSP00000262442:p.Asp1231His					DNAH9_uc010coo.2_Missense_Mutation_p.D525H	p.D1231H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	19	3759	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1231			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.3691G>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257069	0.80246	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.22743	1.94;1.94	5.37	5.37	0.77165	.	0.423383	0.24361	N	0.039181	T	0.52125	0.1715	M	0.85859	2.78	0.80722	D	1	D	0.69078	0.997	D	0.66084	0.941	T	0.57057	-0.7876	10	0.62326	D	0.03	.	19.4796	0.95003	0.0:0.0:1.0:0.0	.	1231	Q9NYC9	DYH9_HUMAN	H	1231	ENSP00000262442:D1231H;ENSP00000414874:D1231H	ENSP00000262442:D1231H	D	+	1	0	DNAH9	11524879	1.000000	0.71417	0.166000	0.22797	0.703000	0.40648	7.910000	0.87451	2.687000	0.91594	0.563000	0.77884	GAT		0.522	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		9	24	0	0	0	0	9	24				
RASD1	51655	broad.mit.edu	37	17	17399349	17399349	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:17399349G>A	ENST00000225688.3	-	1	358	c.147C>T	c.(145-147)ttC>ttT	p.F49F	RASD1_ENST00000579152.1_Silent_p.F49F	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	49					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide mediated signal transduction (GO:0007263)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						AGGCGTCCTCGAAGCGGCCGG	0.622																																						uc002gri.2		NA																	0					0						c.(145-147)TTC>TTT		RAS, dexamethasone-induced 1 precursor							133.0	115.0	121.0					17																	17399349		2203	4300	6503	SO:0001819	synonymous_variant	51655				G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity	g.chr17:17399349G>A	AF069506	CCDS11185.1, CCDS58519.1	17p11.2	2014-05-09			ENSG00000108551	ENSG00000108551			15828	protein-coding gene	gene with protein product	"""ras-related protein"", ""dexamethasone-induced ras-related protein 1"", ""activator of G protein signaling"""	605550				10947988	Standard	NM_001199989		Approved	DEXRAS1, AGS1	uc002gri.3	Q9Y272	OTTHUMG00000059292	ENST00000225688.3:c.147C>T	17.37:g.17399349G>A							p.F49F	NM_016084	NP_057168	Q9Y272	RASD1_HUMAN			1	359	-			49					B2R709|B4DFF4|Q9NYB4	Silent	SNP	ENST00000225688.3	37	c.147C>T	CCDS11185.1																																																																																				0.622	RASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131668.1	NM_016084		16	52	0	0	0	0	16	52				
CCDC144CP	348254	broad.mit.edu	37	17	18525853	18525853	+	IGR	SNP	T	T	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:18525853T>C								CCDC144B (16149 upstream) : TBC1D28 (12465 downstream)																							TGTCTGTTTTTCCTTATATTC	0.274																																						uc002gub.1		NA																	0				ovary(1)|skin(1)	2						c.(373-375)GAA>GGA		coiled-coil domain containing 144B							15.0	14.0	14.0					17																	18525853		2016	4139	6155	SO:0001628	intergenic_variant	284047							g.chr17:18525853T>C																													17.37:g.18525853T>C						CCDC144B_uc002gua.3_RNA|CCDC144B_uc010vyc.1_RNA|CCDC144B_uc002guc.1_Missense_Mutation_p.E125G	p.E125G	NM_182568	NP_872374					2	459	-									Missense_Mutation	SNP		37	c.374A>G																																																																																				0	0.274									15	19	0	0	0	0	15	19				
FAM83G	644815	broad.mit.edu	37	17	18881970	18881970	+	Missense_Mutation	SNP	C	C	T	rs201626154	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:18881970C>T	ENST00000388995.6	-	5	1232	c.1009G>A	c.(1009-1011)Gcg>Acg	p.A337T	SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.A337T|FAM83G_ENST00000585154.2_Missense_Mutation_p.A337T|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	337					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						ACAGTGCCCGCGGGCACCAGG	0.597													C|||	2	0.000399361	0.0	0.0	5008	,	,		18574	0.0		0.002	False		,,,				2504	0.0					uc002guw.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1009-1011)GCG>ACG		hypothetical protein LOC644815		C	THR/ALA,,	2,4046		0,2,2022	83.0	94.0	91.0		1009,,	-8.2	0.0	17		91	14,8330		0,14,4158	yes	missense,intron,intron	SLC5A10,FAM83G	NM_001039999.2,NM_001042450.1,NM_152351.3	58,,	0,16,6180	TT,TC,CC		0.1678,0.0494,0.1291	benign,,	337/824,,	18881970	16,12376	2024	4172	6196	SO:0001583	missense	644815							g.chr17:18881970C>T	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1009G>A	17.37:g.18881970C>T	ENSP00000373647:p.Ala337Thr					SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	p.A337T	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN			5	1176	-			337					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.1009G>A	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	C	7.618	0.676230	0.14841	4.94E-4	0.001678	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.12255	2.7;2.7	5.03	-8.24	0.01029	.	0.584498	0.16726	N	0.202071	T	0.03651	0.0104	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34900	-0.9810	10	0.19147	T	0.46	-0.6712	8.6245	0.33881	0.3757:0.4647:0.0:0.1596	.	337	A6ND36	FA83G_HUMAN	T	337	ENSP00000373647:A337T;ENSP00000343279:A337T	ENSP00000343279:A337T	A	-	1	0	FAM83G	18822695	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.414000	0.07114	-1.464000	0.01902	-1.337000	0.01257	GCG		0.597	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			40	148	0	0	0	0	40	148				
SARM1	23098	broad.mit.edu	37	17	26711532	26711532	+	Missense_Mutation	SNP	G	G	A	rs147156050	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:26711532G>A	ENST00000457710.3	+	3	1615	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K	CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	416					innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of apoptotic process (GO:0042981)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron death (GO:1901214)|response to glucose (GO:0009749)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of mitochondrial outer membrane (GO:0031315)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|synapse (GO:0045202)				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GAAGGAGGCCGAGGTTCAGAC	0.677																																						uc010crl.1		NA																	0					0						c.(1246-1248)GAG>AAG		sterile alpha and TIR motif containing 1		G	LYS/GLU	10,4396	16.8+/-37.8	0,10,2193	37.0	38.0	38.0		1244	3.4	1.0	17	dbSNP_134	38	0,8600		0,0,4300	yes	missense	SARM1	NM_015077.2	56	0,10,6493	AA,AG,GG		0.0,0.227,0.0769	benign	416/725	26711532	10,12996	2203	4300	6503	SO:0001583	missense	23098				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity	g.chr17:26711532G>A	AB011096		17q11	2013-01-10			ENSG00000004139	ENSG00000004139		"""Sterile alpha motif (SAM) domain containing"""	17074	protein-coding gene	gene with protein product		607732				9628581	Standard	NM_015077		Approved	SARM, SAMD2, KIAA0524	uc010crl.1	Q6SZW1	OTTHUMG00000132499	ENST00000457710.3:c.1144G>A	17.37:g.26711532G>A	ENSP00000406738:p.Glu382Lys					SARM1_uc010waj.1_RNA|SARM1_uc002hbe.1_5'Flank	p.E416K	NM_015077	NP_055892	Q6SZW1	SARM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	6	1313	+	all_lung(13;0.000533)|Lung NSC(42;0.00171)		416			SAM 1.		O60277|Q7LGG3|Q9NXY5	Missense_Mutation	SNP	ENST00000457710.3	37	c.1246G>A		.	.	.	.	.	.	.	.	.	.	G	28.2	4.897430	0.91962	0.00227	0.0	ENSG00000004139	ENST00000457710;ENST00000003834	D	0.86030	-2.06	4.38	3.41	0.39046	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (1);Sterile alpha motif, type 2 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77844	0.4191	.	.	.	0.58432	D	0.999997	P	0.36647	0.563	B	0.27715	0.082	T	0.78730	-0.2090	9	0.87932	D	0	-26.2077	12.2667	0.54683	0.0827:0.0:0.9173:0.0	.	416	Q6SZW1	SARM1_HUMAN	K	414;382	ENSP00000406738:E414K	ENSP00000003834:E382K	E	+	1	0	SARM1	23735659	1.000000	0.71417	0.995000	0.50966	0.796000	0.44982	6.466000	0.73543	1.063000	0.40649	0.491000	0.48974	GAG		0.677	SARM1-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000255679.3	NM_015077		7	30	0	0	0	0	7	30				
SARM1	23098	broad.mit.edu	37	17	26711577	26711577	+	Missense_Mutation	SNP	G	G	A	rs137938585		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:26711577G>A	ENST00000457710.3	+	3	1660	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	431					innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of apoptotic process (GO:0042981)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron death (GO:1901214)|response to glucose (GO:0009749)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of mitochondrial outer membrane (GO:0031315)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|synapse (GO:0045202)				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CAAGTACTGCGAGAGCTTCCG	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		16725	0.001		0.0	False		,,,				2504	0.0					uc010crl.1		NA																	0					0						c.(1291-1293)GAG>AAG		sterile alpha and TIR motif containing 1							30.0	29.0	29.0					17																	26711577		2203	4297	6500	SO:0001583	missense	23098				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity	g.chr17:26711577G>A	AB011096		17q11	2013-01-10			ENSG00000004139	ENSG00000004139		"""Sterile alpha motif (SAM) domain containing"""	17074	protein-coding gene	gene with protein product		607732				9628581	Standard	NM_015077		Approved	SARM, SAMD2, KIAA0524	uc010crl.1	Q6SZW1	OTTHUMG00000132499	ENST00000457710.3:c.1189G>A	17.37:g.26711577G>A	ENSP00000406738:p.Glu397Lys					SARM1_uc010waj.1_RNA|SARM1_uc002hbe.1_5'Flank	p.E431K	NM_015077	NP_055892	Q6SZW1	SARM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	6	1358	+	all_lung(13;0.000533)|Lung NSC(42;0.00171)		431			SAM 1.		O60277|Q7LGG3|Q9NXY5	Missense_Mutation	SNP	ENST00000457710.3	37	c.1291G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.46	3.128254	0.56721	.	.	ENSG00000004139	ENST00000457710;ENST00000003834	.	.	.	4.38	2.3	0.28687	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (1);Sterile alpha motif, type 2 (1);Armadillo-type fold (1);	0.368895	0.27193	N	0.020496	T	0.51753	0.1693	.	.	.	0.44006	D	0.996717	B	0.18166	0.026	B	0.22601	0.04	T	0.42582	-0.9443	8	0.29301	T	0.29	-16.2137	14.9351	0.70948	0.0:0.4334:0.5666:0.0	.	431	Q6SZW1	SARM1_HUMAN	K	429;397	.	ENSP00000003834:E397K	E	+	1	0	SARM1	23735704	1.000000	0.71417	0.999000	0.59377	0.873000	0.50193	3.335000	0.52105	0.444000	0.26612	0.491000	0.48974	GAG		0.682	SARM1-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000255679.3	NM_015077		6	18	0	0	0	0	6	18				
LRRC37B	114659	broad.mit.edu	37	17	30349151	30349151	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:30349151C>G	ENST00000341671.7	+	1	991	c.986C>G	c.(985-987)cCa>cGa	p.P329R	LRRC37B_ENST00000327564.7_Missense_Mutation_p.P356R|LRRC37B_ENST00000584368.1_Missense_Mutation_p.P341R|LRRC37B_ENST00000394713.3_Missense_Mutation_p.P329R|LRRC37B_ENST00000543378.2_Missense_Mutation_p.P247R	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	329						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GTTCAACCTCCAGGTGAGGAT	0.473																																						uc002hgu.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(985-987)CCA>CGA		leucine rich repeat containing 37B precursor							85.0	93.0	91.0					17																	30349151		2203	4300	6503	SO:0001583	missense	114659					integral to membrane		g.chr17:30349151C>G	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.986C>G	17.37:g.30349151C>G	ENSP00000340519:p.Pro329Arg					LRRC37B_uc010wbx.1_Missense_Mutation_p.P247R|LRRC37B_uc010csu.2_Missense_Mutation_p.P329R	p.P329R	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN			1	997	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	329			Extracellular (Potential).		Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	c.986C>G	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	8.241	0.806838	0.16467	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.67345	-0.21;-0.25;0.85;-0.26	2.02	-3.0	0.05480	.	.	.	.	.	T	0.67505	0.2900	M	0.64404	1.975	0.09310	N	1	D;D	0.61697	0.99;0.967	P;P	0.56788	0.806;0.71	T	0.58719	-0.7587	9	0.72032	D	0.01	.	2.4759	0.04575	0.2282:0.3111:0.0:0.4607	.	329;329	Q17RC9;Q96QE4	.;LR37B_HUMAN	R	247;356;329;329	ENSP00000443345:P247R;ENSP00000332536:P356R;ENSP00000378202:P329R;ENSP00000340519:P329R	ENSP00000332536:P356R	P	+	2	0	LRRC37B	27373264	0.000000	0.05858	0.000000	0.03702	0.118000	0.20060	-3.949000	0.00327	-0.720000	0.04935	0.164000	0.16699	CCA		0.473	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		34	132	0	0	0	0	34	132				
SLFN12	55106	broad.mit.edu	37	17	33738501	33738501	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:33738501C>T	ENST00000394562.1	-	6	2116	c.1593G>A	c.(1591-1593)ctG>ctA	p.L531L	SLFN12_ENST00000452764.3_Silent_p.L531L|SLFN12_ENST00000460530.1_5'UTR|RP11-686D22.8_ENST00000587012.1_RNA|SLFN12_ENST00000304905.5_Silent_p.L531L			Q8IYM2	SLN12_HUMAN	schlafen family member 12	531							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAAGGGCTTTCAGCAAGTATT	0.388																																						uc002hji.3		NA																	0				skin(1)	1						c.(1591-1593)CTG>CTA		schlafen family member 12							58.0	59.0	59.0					17																	33738501		2203	4300	6503	SO:0001819	synonymous_variant	55106						ATP binding	g.chr17:33738501C>T	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.1593G>A	17.37:g.33738501C>T						SLFN12_uc002hjj.3_Silent_p.L531L|SLFN12_uc010cts.2_Silent_p.L531L	p.L531L	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	1970	-		Ovarian(249;0.17)	531					A8K711|Q9NP47	Silent	SNP	ENST00000394562.1	37	c.1593G>A	CCDS11295.1																																																																																				0.388	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		15	60	0	0	0	0	15	60				
GSDMB	55876	broad.mit.edu	37	17	38066128	38066128	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:38066128C>G	ENST00000394179.1	-	4	587	c.457G>C	c.(457-459)Gaa>Caa	p.E153Q	GSDMB_ENST00000418519.1_Missense_Mutation_p.E153Q|GSDMB_ENST00000394175.2_Missense_Mutation_p.E153Q|GSDMB_ENST00000360317.3_Missense_Mutation_p.E153Q|GSDMB_ENST00000520542.1_Missense_Mutation_p.E153Q|GSDMB_ENST00000309481.7_Missense_Mutation_p.E153Q			Q8TAX9	GSDMB_HUMAN	gasdermin B	153						cytoplasm (GO:0005737)				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TACAGGTTTTCTCTCGTATTA	0.473																																						uc010cwj.2		NA																	0				breast(1)|pancreas(1)	2						c.(457-459)GAA>CAA		gasdermin B isoform 1							103.0	107.0	105.0					17																	38066128		2203	4300	6503	SO:0001583	missense	55876					cytoplasm		g.chr17:38066128C>G	AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"""gasdermin-like"""	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.457G>C	17.37:g.38066128C>G	ENSP00000377733:p.Glu153Gln					GSDMB_uc010cwi.2_5'Flank|GSDMB_uc010cwk.2_RNA|GSDMB_uc010cwl.2_RNA|GSDMB_uc010cwm.2_Intron|GSDMB_uc002htg.2_Missense_Mutation_p.E153Q|GSDMB_uc002hth.2_Missense_Mutation_p.E153Q|GSDMB_uc010wem.1_Missense_Mutation_p.E153Q	p.E153Q	NM_001042471	NP_001035936	Q8TAX9	GSDMB_HUMAN			3	462	-			153					B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Missense_Mutation	SNP	ENST00000394179.1	37	c.457G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.01|14.01	2.406665|2.406665	0.42715|0.42715	.|.	.|.	ENSG00000073605|ENSG00000073605	ENST00000420491|ENST00000360317;ENST00000394175;ENST00000309481;ENST00000520542;ENST00000418519;ENST00000394179	.|T;T;T;T;T;T	.|0.30182	.|1.54;1.54;1.54;1.54;1.54;1.54	3.58|3.58	-0.72|-0.72	0.11195|0.11195	.|.	1.232220|1.232220	0.05745|0.05745	N|N	0.602125|0.602125	T|T	0.36331|0.36331	0.0963|0.0963	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	.|P;D;D;D	.|0.53745	.|0.777;0.962;0.962;0.962	.|B;P;P;P	.|0.54140	.|0.404;0.608;0.608;0.743	T|T	0.33317|0.33317	-0.9873|-0.9873	6|10	.|0.33940	.|T	.|0.23	.|.	6.0505|6.0505	0.19783|0.19783	0.0:0.5017:0.0:0.4983|0.0:0.5017:0.0:0.4983	.|.	.|153;153;153;153	.|B4DKK7;Q8TAX9-4;Q8TAX9-3;Q8TAX9-2	.|.;.;.;.	D|Q	84|153	.|ENSP00000353465:E153Q;ENSP00000377729:E153Q;ENSP00000312584:E153Q;ENSP00000430157:E153Q;ENSP00000415049:E153Q;ENSP00000377733:E153Q	.|ENSP00000312584:E153Q	E|E	-|-	3|1	2|0	GSDMB|GSDMB	35319654|35319654	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.020000|0.020000	0.10135|0.10135	-0.066000|-0.066000	0.11598|0.11598	0.024000|0.024000	0.15214|0.15214	0.609000|0.609000	0.83330|0.83330	GAG|GAA		0.473	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_018530		20	60	0	0	0	0	20	60				
DGKE	8526	broad.mit.edu	37	17	54912414	54912414	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:54912414C>G	ENST00000284061.3	+	2	438	c.258C>G	c.(256-258)ttC>ttG	p.F86L	C17orf67_ENST00000487705.1_Intron|C17orf67_ENST00000575658.1_5'Flank|DGKE_ENST00000576869.1_3'UTR|DGKE_ENST00000572810.1_Missense_Mutation_p.F86L|C17orf67_ENST00000397861.2_5'Flank	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	86					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					AGGGCGCCTTCTGCGACTGCT	0.627																																						uc002iur.2		NA																	0				breast(2)	2						c.(256-258)TTC>TTG		diacylglycerol kinase epsilon							36.0	37.0	37.0					17																	54912414		2203	4300	6503	SO:0001583	missense	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54912414C>G	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.258C>G	17.37:g.54912414C>G	ENSP00000284061:p.Phe86Leu					DGKE_uc002ius.1_Missense_Mutation_p.F86L|C17orf67_uc002iuq.2_5'Flank	p.F86L	NM_003647	NP_003638	P52429	DGKE_HUMAN			2	438	+	Breast(9;3.59e-07)		86			Phorbol-ester/DAG-type 1.		Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	c.258C>G	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181314	0.78677	.	.	ENSG00000153933	ENST00000284061	D	0.92397	-3.03	5.82	4.66	0.58398	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.150606	0.64402	D	0.000010	D	0.90800	0.7111	M	0.72118	2.19	0.47862	D	0.999538	B;B	0.20459	0.045;0.045	B;B	0.29077	0.098;0.098	D	0.86089	0.1549	10	0.11794	T	0.64	.	15.7907	0.78357	0.0:0.9242:0.0:0.0758	.	86;86	A1L4Q0;P52429	.;DGKE_HUMAN	L	86	ENSP00000284061:F86L	ENSP00000284061:F86L	F	+	3	2	DGKE	52267413	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.129000	0.42055	2.739000	0.93911	0.655000	0.94253	TTC		0.627	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		11	43	0	0	0	0	11	43				
SCPEP1	59342	broad.mit.edu	37	17	55075841	55075841	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:55075841G>T	ENST00000262288.3	+	10	1031	c.976G>T	c.(976-978)Gag>Tag	p.E326*		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	326					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					AATTATTCCTGAGGATCAATC	0.438																																						uc002iuv.3		NA																	0				skin(1)	1						c.(976-978)GAG>TAG		serine carboxypeptidase 1 precursor							91.0	95.0	94.0					17																	55075841		2203	4300	6503	SO:0001587	stop_gained	59342				proteolysis	extracellular region	serine-type carboxypeptidase activity	g.chr17:55075841G>T	AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"""retinoid inducible serine carboxypeptidase"""					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.976G>T	17.37:g.55075841G>T	ENSP00000262288:p.Glu326*					SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_Nonsense_Mutation_p.E276*	p.E326*	NM_021626	NP_067639	Q9HB40	RISC_HUMAN			10	1029	+	Breast(9;2.86e-08)		326					Q96A94|Q9H3F0	Nonsense_Mutation	SNP	ENST00000262288.3	37	c.976G>T	CCDS11593.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023344	0.93462	.	.	ENSG00000121064	ENST00000262288	.	.	.	6.07	4.06	0.47325	.	0.369603	0.33075	N	0.005307	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-20.5611	11.6976	0.51553	0.0669:0.1246:0.8085:0.0	.	.	.	.	X	326	.	ENSP00000262288:E326X	E	+	1	0	SCPEP1	52430840	0.817000	0.29147	0.820000	0.32676	0.497000	0.33675	1.333000	0.33816	0.870000	0.35726	0.655000	0.94253	GAG		0.438	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440622.1	NM_021626		23	59	1	0	5.35e-11	7.25e-11	23	59				
EPX	8288	broad.mit.edu	37	17	56276417	56276417	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:56276417G>A	ENST00000225371.5	+	8	1247	c.1137G>A	c.(1135-1137)acG>acA	p.T379T		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	379					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CCCGATCAACGGAAACCCCCA	0.567																																						uc002ivq.2		NA																	0				ovary(2)	2						c.(1135-1137)ACG>ACA		eosinophil peroxidase preproprotein							75.0	66.0	69.0					17																	56276417		2203	4300	6503	SO:0001819	synonymous_variant	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56276417G>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1137G>A	17.37:g.56276417G>A							p.T379T	NM_000502	NP_000493	P11678	PERE_HUMAN			8	1223	+			379					Q4TVP3	Silent	SNP	ENST00000225371.5	37	c.1137G>A	CCDS11602.1																																																																																				0.567	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		8	20	0	0	0	0	8	20				
BZRAP1	9256	broad.mit.edu	37	17	56403660	56403660	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:56403660C>T	ENST00000343736.4	-	3	727	c.564G>A	c.(562-564)ctG>ctA	p.L188L	BZRAP1-AS1_ENST00000580515.1_RNA|BZRAP1_ENST00000268893.6_Silent_p.L188L|BZRAP1-AS1_ENST00000578334.1_RNA|BZRAP1_ENST00000355701.3_Silent_p.L188L|BZRAP1-AS1_ENST00000579527.1_RNA			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	188						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCACCACCCTCAGGTTCGTTT	0.637																																						uc002ivx.3		NA																	0				upper_aerodigestive_tract(2)|skin(1)	3						c.(562-564)CTG>CTA		peripheral benzodiazepine receptor-associated							86.0	86.0	86.0					17																	56403660		2203	4300	6503	SO:0001819	synonymous_variant	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56403660C>T	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.564G>A	17.37:g.56403660C>T						BZRAP1_uc010dcs.2_Silent_p.L188L|BZRAP1_uc010wnt.1_Silent_p.L188L|uc010dct.1_5'Flank|uc010dcu.1_5'Flank	p.L188L	NM_004758	NP_004749	O95153	RIMB1_HUMAN			3	1435	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		188					O75111|Q8N5W3	Silent	SNP	ENST00000343736.4	37	c.564G>A	CCDS11605.1																																																																																				0.637	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		23	48	0	0	0	0	23	48				
BRIP1	83990	broad.mit.edu	37	17	59885908	59885908	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:59885908C>T	ENST00000259008.2	-	7	1105	c.838G>A	c.(838-840)Gat>Aat	p.D280N	BRIP1_ENST00000577598.1_Missense_Mutation_p.D280N	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	280	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CAAGTATGATCCCTGCTGGAA	0.438			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002izk.1		NA	yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	F|N|Mis	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		AML|leukemia|breast			0				ovary(1)	1						c.(838-840)GAT>AAT	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	BRCA1 interacting protein C-terminal helicase 1							143.0	127.0	132.0					17																	59885908		2203	4300	6503	SO:0001583	missense	83990	Fanconi_Anemia			DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59885908C>T	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.838G>A	17.37:g.59885908C>T	ENSP00000259008:p.Asp280Asn						p.D280N	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			7	979	-			280			Helicase ATP-binding.		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.838G>A	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470982	0.84533	.	.	ENSG00000136492	ENST00000259008	T	0.70869	-0.52	5.29	5.29	0.74685	DEAD-like helicase (1);DEAD2 (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.190971	0.53938	D	0.000045	D	0.83261	0.5216	M	0.73372	2.23	0.52501	D	0.999956	D	0.89917	1.0	D	0.72982	0.979	T	0.82908	-0.0224	9	.	.	.	-9.6685	18.3337	0.90280	0.0:1.0:0.0:0.0	.	280	Q9BX63	FANCJ_HUMAN	N	280	ENSP00000259008:D280N	.	D	-	1	0	BRIP1	57240690	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.206000	0.77891	2.632000	0.89209	0.579000	0.79373	GAT		0.438	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		16	64	0	0	0	0	16	64				
FDXR	2232	broad.mit.edu	37	17	72860147	72860147	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:72860147C>G	ENST00000293195.5	-	10	1123	c.1045G>C	c.(1045-1047)Gaa>Caa	p.E349Q	FDXR_ENST00000544854.1_Missense_Mutation_p.E297Q|FDXR_ENST00000413947.2_Missense_Mutation_p.E380Q|FDXR_ENST00000582944.1_Missense_Mutation_p.E341Q|FDXR_ENST00000442102.2_Missense_Mutation_p.E392Q|FDXR_ENST00000583917.1_Missense_Mutation_p.E321Q|FDXR_ENST00000455107.2_Missense_Mutation_p.W331C|FDXR_ENST00000581530.1_Missense_Mutation_p.E355Q|GRIN2C_ENST00000578159.1_5'Flank|FDXR_ENST00000581969.1_5'Flank|FDXR_ENST00000420580.2_Missense_Mutation_p.E309Q	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	349					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)	GGGAGGTCTTCCATGTCTCCC	0.632																																						uc002jly.2		NA																	0					0						c.(1045-1047)GAA>CAA		ferredoxin reductase isoform 1 precursor							54.0	57.0	56.0					17																	72860147		2203	4300	6503	SO:0001583	missense	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72860147C>G	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.1045G>C	17.37:g.72860147C>G	ENSP00000293195:p.Glu349Gln					FDXR_uc010wri.1_Missense_Mutation_p.E297Q|FDXR_uc010wrj.1_Missense_Mutation_p.E347Q|FDXR_uc002jlw.2_Missense_Mutation_p.E106Q|FDXR_uc002jlx.2_Missense_Mutation_p.E355Q|FDXR_uc002jmc.2_Missense_Mutation_p.E321Q|FDXR_uc010wrk.1_Missense_Mutation_p.E380Q|FDXR_uc010wrl.1_Missense_Mutation_p.E392Q|FDXR_uc002jma.2_Missense_Mutation_p.E350Q|FDXR_uc010wrm.1_Missense_Mutation_p.E309Q|FDXR_uc002jlz.2_Missense_Mutation_p.E341Q|FDXR_uc002jmb.2_Intron	p.E349Q	NM_024417	NP_077728	P22570	ADRO_HUMAN			10	1132	-	all_lung(278;0.172)|Lung NSC(278;0.207)		349					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	ENST00000293195.5	37	c.1045G>C	CCDS58593.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.357197|4.357197	0.82243|0.82243	.|.	.|.	ENSG00000161513|ENSG00000161513	ENST00000420580;ENST00000544854;ENST00000293195;ENST00000442102;ENST00000413947|ENST00000455107	T;T;T;T|T	0.38240|0.14640	1.15;1.15;1.15;1.15|2.49	4.29|4.29	4.29|4.29	0.51040|0.51040	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.37892|0.37892	0.1020|0.1020	M|M	0.83384|0.83384	2.64|2.64	0.52501|0.52501	D|D	0.999958|0.999958	D;D;D;D;D;B;P;D;P;D|.	0.89917|.	0.999;0.999;0.999;1.0;0.965;0.44;0.597;0.999;0.597;0.996|.	D;D;P;P;P;B;B;P;B;P|.	0.75484|.	0.965;0.986;0.889;0.875;0.848;0.062;0.137;0.875;0.137;0.791|.	T|T	0.43458|0.43458	-0.9390|-0.9390	10|7	0.59425|0.62326	D|D	0.04|0.03	-14.1899|-14.1899	16.3548|16.3548	0.83232|0.83232	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	309;392;380;347;297;380;349;341;349;355|.	B4DQQ4;B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2|.	.;.;.;.;.;.;.;.;ADRO_HUMAN;.|.	Q|C	309;297;355;392;380|331	ENSP00000414172:E309Q;ENSP00000445432:E297Q;ENSP00000416515:E392Q;ENSP00000408595:E380Q|ENSP00000390875:W331C	ENSP00000293195:E355Q|ENSP00000390875:W331C	E|W	-|-	1|3	0|0	FDXR|FDXR	70371742|70371742	1.000000|1.000000	0.71417|0.71417	0.869000|0.869000	0.34112|0.34112	0.799000|0.799000	0.45148|0.45148	5.810000|5.810000	0.69179|0.69179	1.954000|1.954000	0.56735|0.56735	0.561000|0.561000	0.74099|0.74099	GAA|TGG		0.632	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		8	75	0	0	0	0	8	75				
ZACN	353174	broad.mit.edu	37	17	74077661	74077661	+	Silent	SNP	C	C	T	rs143332874		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:74077661C>T	ENST00000334586.5	+	7	788	c.705C>T	c.(703-705)atC>atT	p.I235I	EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000589210.1_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	235	Leu-rich.				ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						AGTCCATCATCGCTCTCTTGG	0.642																																						uc002jqn.2		NA																	0					0						c.(703-705)ATC>ATT		zinc activated ligand-gated ion channel		A	,,,,,	0,4406		0,0,2203	106.0	100.0	102.0		,,,,,705	-9.6	0.0	17	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	no	utr-3,utr-3,utr-3,utr-3,utr-3,coding-synonymous	EXOC7,ZACN	NM_001013839.2,NM_001145297.2,NM_001145298.2,NM_001145299.2,NM_015219.3,NM_180990.3	,,,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,,,	,,,,,235/413	74077661	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	353174				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr17:74077661C>T	AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.705C>T	17.37:g.74077661C>T						ZACN_uc002jqo.2_RNA|ZACN_uc010dgu.2_Intron|EXOC7_uc002jqp.1_3'UTR|EXOC7_uc010dgv.1_3'UTR|EXOC7_uc002jqs.2_3'UTR|EXOC7_uc002jqq.2_3'UTR|EXOC7_uc010wsw.1_3'UTR|EXOC7_uc010wsx.1_3'UTR|EXOC7_uc002jqr.2_3'UTR|EXOC7_uc010wsv.1_3'UTR	p.I235I	NM_180990	NP_851321	Q401N2	ZACN_HUMAN			7	788	+			235			Leu-rich.|Helical; Name=1; (Potential).		Q2TB29|Q6ZWK3|Q86YW4	Silent	SNP	ENST00000334586.5	37	c.705C>T	CCDS11740.2																																																																																				0.642	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990		31	98	0	0	0	0	31	98				
ZNF521	25925	broad.mit.edu	37	18	22805237	22805237	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr18:22805237G>C	ENST00000361524.3	-	4	2793	c.2645C>G	c.(2644-2646)tCt>tGt	p.S882C	ZNF521_ENST00000538137.2_Missense_Mutation_p.S882C|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.S662C	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	882					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CATAGGCTCAGAGGTGTCAAC	0.532			T	PAX5	ALL																																	uc002kvk.2		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				ovary(4)|large_intestine(2)|lung(1)	7						c.(2644-2646)TCT>TGT		zinc finger protein 521							145.0	133.0	137.0					18																	22805237		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805237G>C	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2645C>G	18.37:g.22805237G>C	ENSP00000354794:p.Ser882Cys					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.S882C|ZNF521_uc002kvl.2_Missense_Mutation_p.S662C	p.S882C	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	2892	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		882					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.2645C>G	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.776723	0.31411	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T;T	0.29917	1.55;2.9;1.55	5.83	5.83	0.93111	.	0.058961	0.64402	D	0.000001	T	0.55577	0.1929	M	0.70595	2.14	0.47183	D	0.99934	D	0.69078	0.997	P	0.62014	0.897	T	0.55805	-0.8083	10	0.72032	D	0.01	-16.8141	20.1184	0.97949	0.0:0.0:1.0:0.0	.	882	Q96K83	ZN521_HUMAN	C	882;916;882	ENSP00000354794:S882C;ENSP00000440768:S916C;ENSP00000382352:S882C	ENSP00000354794:S882C	S	-	2	0	ZNF521	21059235	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	9.476000	0.97823	2.769000	0.95229	0.655000	0.94253	TCT		0.532	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		18	69	0	0	0	0	18	69				
ASXL3	80816	broad.mit.edu	37	18	31320039	31320039	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr18:31320039G>A	ENST00000269197.5	+	11	2671	c.2671G>A	c.(2671-2673)Gat>Aat	p.D891N		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	891					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGAAGGGACAGATAATAAGGG	0.348																																						uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(2671-2673)GAT>AAT		additional sex combs like 3							95.0	95.0	95.0					18																	31320039		1862	4093	5955	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31320039G>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.2671G>A	18.37:g.31320039G>A	ENSP00000269197:p.Asp891Asn					ASXL3_uc002kxq.2_Missense_Mutation_p.D598N	p.D891N	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			11	2726	+			891					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.2671G>A	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	9.514	1.106498	0.20632	.	.	ENSG00000141431	ENST00000269197	T	0.13657	2.57	5.95	5.07	0.68467	.	1.973130	0.02410	N	0.081582	T	0.09992	0.0245	N	0.14661	0.345	0.09310	N	1	B	0.17667	0.023	B	0.15870	0.014	T	0.15464	-1.0436	10	0.35671	T	0.21	.	4.9782	0.14151	0.124:0.1202:0.6318:0.1239	.	891	Q9C0F0	ASXL3_HUMAN	N	891	ENSP00000269197:D891N	ENSP00000269197:D891N	D	+	1	0	ASXL3	29574037	0.731000	0.28111	0.995000	0.50966	0.734000	0.41952	2.376000	0.44292	2.817000	0.96982	0.563000	0.77884	GAT		0.348	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			9	53	0	0	0	0	9	53				
ZNF396	252884	broad.mit.edu	37	18	32954025	32954025	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr18:32954025G>A	ENST00000589332.1	-	2	363	c.232C>T	c.(232-234)Cat>Tat	p.H78Y	ZNF396_ENST00000306346.1_Missense_Mutation_p.H78Y|ZNF396_ENST00000586687.1_Missense_Mutation_p.H78Y			Q96N95	ZN396_HUMAN	zinc finger protein 396	78	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)	p.H78Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						AGCCAGAGATGACAAAGTTCC	0.597																																						uc010xcf.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(232-234)CAT>TAT		zinc finger protein 396							66.0	67.0	66.0					18																	32954025		2203	4300	6503	SO:0001583	missense	252884				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32954025G>A	AK055775	CCDS11913.1	18p12	2013-01-09			ENSG00000186496	ENSG00000186496		"""-"", ""Zinc fingers, C2H2-type"""	18824	protein-coding gene	gene with protein product		609600					Standard	NM_145756		Approved	ZSCAN14, FLJ31213	uc010xcf.1	Q96N95	OTTHUMG00000132562	ENST00000589332.1:c.232C>T	18.37:g.32954025G>A	ENSP00000466500:p.His78Tyr						p.H78Y	NM_145756	NP_665699	Q96N95	ZN396_HUMAN			2	364	-			78			SCAN box.		A1L3V0|Q8NF98|Q8TD80	Missense_Mutation	SNP	ENST00000589332.1	37	c.232C>T		.	.	.	.	.	.	.	.	.	.	G	4.365	0.067264	0.08388	.	.	ENSG00000186496	ENST00000306346;ENST00000399057	T	0.05786	3.39	3.99	-1.88	0.07713	.	0.408758	0.17714	U	0.164470	T	0.03827	0.0108	L	0.46157	1.445	0.09310	N	1	B	0.32160	0.358	B	0.30572	0.117	T	0.44019	-0.9355	10	0.02654	T	1	.	4.7867	0.13229	0.5371:0.0:0.3073:0.1556	.	78	Q96N95-3	.	Y	78	ENSP00000302310:H78Y	ENSP00000302310:H78Y	H	-	1	0	ZNF396	31208023	0.000000	0.05858	0.000000	0.03702	0.878000	0.50629	-0.001000	0.12947	-0.381000	0.07882	0.555000	0.69702	CAT		0.597	ZNF396-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255766.1	NM_145756		13	74	0	0	0	0	13	74				
SETBP1	26040	broad.mit.edu	37	18	42531993	42531993	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr18:42531993C>T	ENST00000282030.5	+	4	2984	c.2688C>T	c.(2686-2688)ttC>ttT	p.F896F		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	896						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CTTTTGATTTCTGCTCCCTGG	0.557									Schinzel-Giedion syndrome																													uc010dni.2		NA																	0				upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(2686-2688)TTC>TTT		SET binding protein 1 isoform a							47.0	34.0	38.0					18																	42531993		2203	4300	6503	SO:0001819	synonymous_variant	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42531993C>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2688C>T	18.37:g.42531993C>T							p.F896F	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	2984	+			896					A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	ENST00000282030.5	37	c.2688C>T	CCDS11923.2																																																																																				0.557	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		12	24	0	0	0	0	12	24				
NETO1	81832	broad.mit.edu	37	18	70526106	70526106	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr18:70526106C>G	ENST00000327305.6	-	4	1081	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	NETO1_ENST00000583169.1_Missense_Mutation_p.E142Q|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000299430.2_Missense_Mutation_p.E141Q|NETO1_ENST00000397929.1_Missense_Mutation_p.E141Q	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	142	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GATTCCAGCTCTCCATCAGCA	0.338																																						uc002lkw.2		NA																	0				ovary(2)|skin(2)	4						c.(424-426)GAG>CAG		neuropilin- and tolloid-like protein 1 isoform 3							60.0	64.0	63.0					18																	70526106		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70526106C>G	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.424G>C	18.37:g.70526106C>G	ENSP00000313088:p.Glu142Gln					NETO1_uc002lkx.1_Missense_Mutation_p.E141Q|NETO1_uc002lky.1_Missense_Mutation_p.E142Q|NETO1_uc002lkz.2_Missense_Mutation_p.E141Q	p.E142Q	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	4	708	-		Esophageal squamous(42;0.129)	142			CUB 1.|Extracellular (Potential).		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.424G>C	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967045	0.92855	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	T;T;T	0.18657	2.2;2.2;2.2	4.88	4.88	0.63580	CUB (5);	0.000000	0.56097	D	0.000021	T	0.50684	0.1630	M	0.79805	2.47	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.996	D;D;D	0.80764	0.994;0.991;0.969	T	0.57242	-0.7845	10	0.72032	D	0.01	-13.4049	18.4164	0.90571	0.0:1.0:0.0:0.0	.	141;141;142	Q8TDF5-1;Q8TDF5-2;Q8TDF5	.;.;NETO1_HUMAN	Q	142;141;141	ENSP00000313088:E142Q;ENSP00000299430:E141Q;ENSP00000381024:E141Q	ENSP00000299430:E141Q	E	-	1	0	NETO1	68677086	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.724000	0.84798	2.416000	0.81992	0.655000	0.94253	GAG		0.338	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		14	37	0	0	0	0	14	37				
BSG	682	broad.mit.edu	37	19	579570	579570	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:579570C>T	ENST00000333511.3	+	3	556	c.486C>T	c.(484-486)agC>agT	p.S162S	BSG_ENST00000574970.1_3'UTR|BSG_ENST00000545507.2_5'UTR|BSG_ENST00000346916.4_Intron|BSG_ENST00000353555.4_Silent_p.S46S	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	162	Ig-like C2-type.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TGAATGACAGCGCCACAGAGG	0.627																																						uc002loz.2		NA																	0					0						c.(484-486)AGC>AGT		basigin isoform 1 precursor							61.0	54.0	56.0					19																	579570		2201	4298	6499	SO:0001819	synonymous_variant	682				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding	g.chr19:579570C>T	L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1116	protein-coding gene	gene with protein product	"""Ok blood group"""	109480	"""basigin"""	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.486C>T	19.37:g.579570C>T						BSG_uc002loy.2_Intron|BSG_uc002lpa.2_Silent_p.S46S|BSG_uc002lpb.2_RNA|BSG_uc010drr.2_Silent_p.S46S|BSG_uc002lpc.2_Silent_p.S209S|BSG_uc002lpd.2_5'Flank	p.S162S	NM_001728	NP_001719	P35613	BASI_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	584	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	162			Extracellular (Potential).|Ig-like C2-type.		A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Silent	SNP	ENST00000333511.3	37	c.486C>T	CCDS12033.1																																																																																				0.627	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438630.2	NM_001728		16	45	0	0	0	0	16	45				
HCN2	610	broad.mit.edu	37	19	603773	603773	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:603773C>T	ENST00000251287.2	+	2	915	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	288					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GAAGTATCTGCGCACGTGGTT	0.547																																					Melanoma(145;1175 2427 8056 36306)	uc002lpe.2		NA																	0					0						c.(862-864)CGC>TGC		hyperpolarization activated cyclic							188.0	148.0	162.0					19																	603773		2199	4298	6497	SO:0001583	missense	610				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr19:603773C>T	AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.862C>T	19.37:g.603773C>T	ENSP00000251287:p.Arg288Cys						p.R288C	NM_001194	NP_001185	Q9UL51	HCN2_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)	2	915	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	288			Cytoplasmic (Potential).		O60742|O60743|O75267|Q9UBS2	Missense_Mutation	SNP	ENST00000251287.2	37	c.862C>T	CCDS12035.1	.	.	.	.	.	.	.	.	.	.	.	13.11	2.140252	0.37825	.	.	ENSG00000099822	ENST00000251287	D	0.94862	-3.54	3.05	3.05	0.35203	Ion transport (1);	.	.	.	.	D	0.93070	0.7794	M	0.69248	2.105	0.49483	D	0.999791	P	0.46277	0.875	P	0.44422	0.449	D	0.92954	0.6383	9	0.87932	D	0	.	9.7892	0.40695	0.2222:0.7778:0.0:0.0	.	288	Q9UL51	HCN2_HUMAN	C	288	ENSP00000251287:R288C	ENSP00000251287:R288C	R	+	1	0	HCN2	554773	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.214000	0.51161	1.749000	0.51849	0.299000	0.19835	CGC		0.547	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194		7	66	0	0	0	0	7	66				
ATP8B3	148229	broad.mit.edu	37	19	1800407	1800407	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:1800407G>A	ENST00000310127.6	-	13	1432	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	ATP8B3_ENST00000539485.1_Silent_p.F398F|ATP8B3_ENST00000525591.1_Silent_p.F351F|ATP8B3_ENST00000526092.2_Silent_p.F345F	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	398					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		AACCGAAGCCGAAGGCCAACA	0.597																																						uc002ltw.2		NA																	0					0						c.(1192-1194)TTC>TTT		ATPase, class I, type 8B, member 3							65.0	74.0	71.0					19																	1800407		2136	4251	6387	SO:0001819	synonymous_variant	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1800407G>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.1194C>T	19.37:g.1800407G>A						ATP8B3_uc002ltv.2_Silent_p.F351F|ATP8B3_uc002ltx.2_RNA|ATP8B3_uc002lty.1_Silent_p.F146F|ATP8B3_uc002ltz.1_Silent_p.F345F	p.F398F	NM_138813	NP_620168	O60423	AT8B3_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)	13	1428	-		Hepatocellular(1079;0.137)	398			Helical; (Potential).		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	ENST00000310127.6	37	c.1194C>T	CCDS45901.1																																																																																				0.597	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		22	78	0	0	0	0	22	78				
SEMA6B	10501	broad.mit.edu	37	19	4554425	4554425	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:4554425G>A	ENST00000586582.1	-	9	1056	c.746C>T	c.(745-747)gCg>gTg	p.A249V	SEMA6B_ENST00000586965.1_Missense_Mutation_p.A249V|SEMA6B_ENST00000301293.3_Missense_Mutation_p.A249V	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	249	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AAACTCCATCGCAATCTCCCG	0.567																																						uc010duc.1		NA																	0				skin(1)	1						c.(745-747)GCG>GTG		semaphorin 6B precursor							91.0	78.0	82.0					19																	4554425		2203	4299	6502	SO:0001583	missense	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4554425G>A	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.746C>T	19.37:g.4554425G>A	ENSP00000467290:p.Ala249Val					SEMA6B_uc010dud.2_Missense_Mutation_p.A249V|SEMA6B_uc010xih.1_Missense_Mutation_p.A249V	p.A249V	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	8	784	-		Hepatocellular(1079;0.137)	249			Extracellular (Potential).|Sema.		A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	c.746C>T	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	.	18.97	3.736276	0.69189	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.13657	2.57	3.77	3.77	0.43336	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	U	0.000000	T	0.41119	0.1145	M	0.86740	2.835	0.37667	D	0.922987	D;D	0.89917	1.0;0.999	D;D	0.69824	0.966;0.928	T	0.58211	-0.7676	10	0.87932	D	0	.	14.3189	0.66470	0.0:0.0:1.0:0.0	.	249;249	B4DT36;Q9H3T3	.;SEM6B_HUMAN	V	249	ENSP00000301293:A249V	ENSP00000301292:A249V	A	-	2	0	SEMA6B	4505425	1.000000	0.71417	0.821000	0.32701	0.623000	0.37688	9.440000	0.97547	1.956000	0.56807	0.298000	0.19748	GCG		0.567	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		7	48	0	0	0	0	7	48				
GTF2F1	2962	broad.mit.edu	37	19	6389547	6389547	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:6389547C>A	ENST00000394456.5	-	4	698	c.234G>T	c.(232-234)gaG>gaT	p.E78D	GTF2F1_ENST00000429701.2_Missense_Mutation_p.E50D|CTB-180A7.6_ENST00000599584.1_RNA	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	78					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|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)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						TCCTCCGAGCCTCCTCCCGAA	0.607																																						uc002meq.2		NA																	0					0						c.(232-234)GAG>GAT		general transcription factor IIF, polypeptide 1,							139.0	141.0	140.0					19																	6389547		2203	4300	6503	SO:0001583	missense	2962				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding	g.chr19:6389547C>A		CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"""General transcription factors"""	4652	protein-coding gene	gene with protein product		189968	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.234G>T	19.37:g.6389547C>A	ENSP00000377969:p.Glu78Asp					GTF2F1_uc010xjb.1_5'Flank|GTF2F1_uc010xjc.1_Missense_Mutation_p.E50D	p.E78D	NM_002096	NP_002087	P35269	T2FA_HUMAN			4	519	-			78					B2RCS0|Q9BWN0	Missense_Mutation	SNP	ENST00000394456.5	37	c.234G>T	CCDS12165.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186764	0.38609	.	.	ENSG00000125651	ENST00000394456;ENST00000429701;ENST00000542045;ENST00000543921;ENST00000541263	T;T	0.52983	0.64;0.64	5.23	4.19	0.49359	Transcription Factor IIF, Rap30/Rap74, interaction (1);	0.000000	0.85682	D	0.000000	T	0.67363	0.2885	M	0.84082	2.675	0.58432	D	0.999995	D;B	0.76494	0.999;0.232	D;B	0.80764	0.994;0.204	T	0.66035	-0.6023	10	0.25106	T	0.35	-50.1686	13.0613	0.59008	0.0:0.9192:0.0:0.0808	.	50;78	E7EUG6;P35269	.;T2FA_HUMAN	D	78;50;138;51;78	ENSP00000377969:E78D;ENSP00000392107:E50D	ENSP00000377969:E78D	E	-	3	2	GTF2F1	6340547	1.000000	0.71417	1.000000	0.80357	0.108000	0.19459	1.619000	0.36965	2.454000	0.82982	0.655000	0.94253	GAG		0.607	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096		35	166	1	0	2.42e-17	3.33e-17	35	166				
EVI5L	115704	broad.mit.edu	37	19	7912766	7912766	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:7912766G>A	ENST00000270530.4	+	3	482	c.286G>A	c.(286-288)Gag>Aag	p.E96K	EVI5L_ENST00000538904.2_Missense_Mutation_p.E96K	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	96					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GATCGCCAACGAGTGGGAGGA	0.697																																						uc002min.2		NA																	0				ovary(1)	1						c.(286-288)GAG>AAG		ecotropic viral integration site 5-like isoform							21.0	16.0	18.0					19																	7912766		2196	4286	6482	SO:0001583	missense	115704					intracellular	protein binding|Rab GTPase activator activity	g.chr19:7912766G>A	BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.286G>A	19.37:g.7912766G>A	ENSP00000270530:p.Glu96Lys					EVI5L_uc010xjz.1_Missense_Mutation_p.E96K	p.E96K	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN			3	440	+			96					B9A6I9	Missense_Mutation	SNP	ENST00000270530.4	37	c.286G>A	CCDS12188.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190996	0.78789	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	T;T	0.04194	3.68;3.68	4.08	4.08	0.47627	Rab-GAP/TBC domain (1);	0.116625	0.56097	D	0.000024	T	0.09555	0.0235	M	0.67953	2.075	0.53005	D	0.999966	D;P	0.61697	0.99;0.951	P;P	0.46253	0.509;0.509	T	0.14952	-1.0454	10	0.38643	T	0.18	-29.4995	13.7987	0.63186	0.0:0.0:1.0:0.0	.	96;96	B9A6I9;Q96CN4	.;EVI5L_HUMAN	K	96	ENSP00000270530:E96K;ENSP00000445905:E96K	ENSP00000270530:E96K	E	+	1	0	EVI5L	7818766	1.000000	0.71417	0.993000	0.49108	0.950000	0.60333	9.614000	0.98353	2.106000	0.64143	0.407000	0.27541	GAG		0.697	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1	NM_145245		4	7	0	0	0	0	4	7				
MUC16	94025	broad.mit.edu	37	19	9067629	9067629	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:9067629G>C	ENST00000397910.4	-	3	20020	c.19817C>G	c.(19816-19818)tCt>tGt	p.S6606C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6608	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						AGACGAATAAGATTCCTTTTC	0.433																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(19816-19818)TCT>TGT		mucin 16							214.0	194.0	200.0					19																	9067629		1930	4135	6065	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9067629G>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.19817C>G	19.37:g.9067629G>C	ENSP00000381008:p.Ser6606Cys						p.S6606C	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	20021	-			6608			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.19817C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.367	0.067568	0.08436	.	.	ENSG00000181143	ENST00000397910	T	0.33865	1.39	2.12	2.12	0.27331	.	.	.	.	.	T	0.29423	0.0733	L	0.29908	0.895	.	.	.	D	0.65815	0.995	P	0.46758	0.526	T	0.41106	-0.9527	8	0.87932	D	0	.	7.896	0.29706	0.0:0.0:1.0:0.0	.	6606	B5ME49	.	C	6606	ENSP00000381008:S6606C	ENSP00000381008:S6606C	S	-	2	0	MUC16	8928629	0.000000	0.05858	0.001000	0.08648	0.413000	0.31143	0.219000	0.17641	1.533000	0.49186	0.154000	0.16183	TCT		0.433	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	192	0	0	0	0	6	192				
OR7G3	390883	broad.mit.edu	37	19	9237045	9237045	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:9237045G>A	ENST00000305444.2	-	1	581	c.582C>T	c.(580-582)atC>atT	p.I194I		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GGATGTTATTGATGAGGACAT	0.443																																						uc010xkl.1		NA																	0				ovary(1)	1						c.(580-582)ATC>ATT		olfactory receptor, family 7, subfamily G,							73.0	72.0	72.0					19																	9237045		2203	4300	6503	SO:0001819	synonymous_variant	390883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9237045G>A		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"""GPCR / Class A : Olfactory receptors"""	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.582C>T	19.37:g.9237045G>A							p.I194I	NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN			1	582	-			194			Extracellular (Potential).		Q6IFJ6|Q96R99	Silent	SNP	ENST00000305444.2	37	c.582C>T	CCDS32899.1																																																																																				0.443	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			23	67	0	0	0	0	23	67				
AP1M1	8907	broad.mit.edu	37	19	16314374	16314374	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:16314374C>T	ENST00000291439.3	+	2	596	c.147C>T	c.(145-147)atC>atT	p.I49I	AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000429941.2_Silent_p.I49I|AP1M1_ENST00000444449.2_Silent_p.I49I	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	49					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						TGTCGCCCATCCTGGCCCACG	0.592																																						uc002ndu.2		NA																	0				ovary(3)|breast(1)	4						c.(145-147)ATC>ATT		adaptor-related protein complex 1, mu 1 subunit							95.0	86.0	89.0					19																	16314374		2203	4300	6503	SO:0001819	synonymous_variant	8907				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	g.chr19:16314374C>T		CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.147C>T	19.37:g.16314374C>T						AP1M1_uc002ndv.2_Silent_p.I49I|AP1M1_uc010xpd.1_Silent_p.I49I	p.I49I	NM_032493	NP_115882	Q9BXS5	AP1M1_HUMAN			2	320	+			49					Q4TTY5	Silent	SNP	ENST00000291439.3	37	c.147C>T	CCDS12342.1																																																																																				0.592	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		20	44	0	0	0	0	20	44				
ZNF253	56242	broad.mit.edu	37	19	20002713	20002713	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:20002713G>A	ENST00000589717.1	+	4	749	c.657G>A	c.(655-657)aaG>aaA	p.K219K	CTC-559E9.8_ENST00000585571.1_RNA|AC011477.1_ENST00000578823.1_RNA|ZNF253_ENST00000355650.4_Silent_p.K143K	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	219					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(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTACACATAAGAGAATTCATA	0.383																																						uc002noj.2		NA																	0					0						c.(655-657)AAG>AAA		zinc finger protein 253							37.0	40.0	39.0					19																	20002713		2169	4277	6446	SO:0001819	synonymous_variant	56242				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20002713G>A	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.657G>A	19.37:g.20002713G>A						ZNF253_uc002nok.2_Silent_p.K143K|ZNF253_uc002nol.2_RNA	p.K219K	NM_021047	NP_066385	O75346	ZN253_HUMAN			4	749	+			219			C2H2-type 2.		A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Silent	SNP	ENST00000589717.1	37	c.657G>A	CCDS42532.1																																																																																				0.383	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047		12	47	0	0	0	0	12	47				
ZNF536	9745	broad.mit.edu	37	19	30934667	30934667	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:30934667G>A	ENST00000355537.3	+	2	345	c.198G>A	c.(196-198)gaG>gaA	p.E66E		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	66					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)					CCCTGGAGGAGAAGGCCCACG	0.687																																						uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(196-198)GAG>GAA		zinc finger protein 536							35.0	38.0	37.0					19																	30934667		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934667G>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.198G>A	19.37:g.30934667G>A						ZNF536_uc010edd.1_Silent_p.E66E	p.E66E	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	336	+	Esophageal squamous(110;0.0834)		66					A2RU18	Silent	SNP	ENST00000355537.3	37	c.198G>A	CCDS32984.1																																																																																				0.687	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		14	48	0	0	0	0	14	48				
ZNF540	163255	broad.mit.edu	37	19	38102931	38102931	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:38102931G>C	ENST00000592533.1	+	5	1082	c.750G>C	c.(748-750)aaG>aaC	p.K250N	ZNF540_ENST00000589117.1_Missense_Mutation_p.K218N|ZNF540_ENST00000316433.4_Missense_Mutation_p.K250N|ZNF540_ENST00000343599.5_Missense_Mutation_p.K250N	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	250					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATGTGGGAAGACCTTTACTC	0.353																																						uc002ogq.2		NA																	0				large_intestine(1)	1						c.(748-750)AAG>AAC		zinc finger protein 540							37.0	38.0	38.0					19																	38102931		2203	4300	6503	SO:0001583	missense	163255				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38102931G>C	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.750G>C	19.37:g.38102931G>C	ENSP00000466274:p.Lys250Asn					ZNF540_uc002ogu.2_Missense_Mutation_p.K250N|ZNF540_uc010efq.2_Missense_Mutation_p.K218N	p.K250N	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1082	+			250			C2H2-type 3.		A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	ENST00000592533.1	37	c.750G>C	CCDS12506.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295832	0.40594	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.27890	1.64	2.33	1.25	0.21368	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.56848	0.2013	M	0.93420	3.415	0.23341	N	0.997872	D;D	0.64830	0.985;0.994	P;P	0.62649	0.847;0.905	T	0.45498	-0.9257	9	0.72032	D	0.01	.	5.4913	0.16777	0.295:0.0:0.705:0.0	.	218;250	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	N	250;218	ENSP00000324598:K250N	ENSP00000324598:K250N	K	+	3	2	ZNF540	42794771	0.026000	0.19158	0.010000	0.14722	0.230000	0.25150	0.136000	0.15974	0.290000	0.22444	0.313000	0.20887	AAG		0.353	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606		7	34	0	0	0	0	7	34				
FCGBP	8857	broad.mit.edu	37	19	40376432	40376432	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:40376432G>C	ENST00000221347.6	-	25	11879	c.11872C>G	c.(11872-11874)Ctg>Gtg	p.L3958V	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3958	Cys-rich.|TIL 9.					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)			GGGCACTGCAGAGGGGCACTG	0.632																																						uc002omp.3		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(11872-11874)CTG>GTG		Fc fragment of IgG binding protein precursor							14.0	14.0	14.0					19																	40376432		2190	4272	6462	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40376432G>C	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.11872C>G	19.37:g.40376432G>C	ENSP00000221347:p.Leu3958Val						p.L3958V	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		25	11880	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		3958			TIL 9.|Cys-rich.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.11872C>G	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	g	10.36	1.329206	0.24167	.	.	ENSG00000090920	ENST00000221347	D	0.90788	-2.73	3.77	-1.97	0.07503	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	.	.	.	.	T	0.71542	0.3352	N	0.04162	-0.26	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.59053	-0.7526	9	0.15952	T	0.53	.	1.2563	0.01992	0.1809:0.1265:0.2952:0.3974	.	3958	Q9Y6R7	FCGBP_HUMAN	V	3958	ENSP00000221347:L3958V	ENSP00000221347:L3958V	L	-	1	2	FCGBP	45068272	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.191000	0.09601	-0.493000	0.06678	0.306000	0.20318	CTG		0.632	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		5	29	0	0	0	0	5	29				
HIPK4	147746	broad.mit.edu	37	19	40889957	40889957	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:40889957C>G	ENST00000291823.2	-	2	839	c.555G>C	c.(553-555)gaG>gaC	p.E185D		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	185	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CCAGCAGGATCTCAGGGGCCC	0.632																																						uc002onp.2		NA																	0				ovary(1)|stomach(1)	2						c.(553-555)GAG>GAC		homeodomain interacting protein kinase 4							61.0	57.0	58.0					19																	40889957		2203	4300	6503	SO:0001583	missense	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40889957C>G	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.555G>C	19.37:g.40889957C>G	ENSP00000291823:p.Glu185Asp						p.E185D	NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		2	840	-			185			Protein kinase.		A8K863|Q96M54	Missense_Mutation	SNP	ENST00000291823.2	37	c.555G>C	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635713	0.87760	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.61040	0.14	5.84	4.81	0.61882	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	0.56097	D	0.000024	T	0.80423	0.4620	M	0.91140	3.18	0.42336	D	0.992313	D	0.89917	1.0	D	0.87578	0.998	D	0.85403	0.1132	10	0.87932	D	0	.	14.0351	0.64640	0.0:0.9261:0.0:0.0739	.	185	Q8NE63	HIPK4_HUMAN	D	185;150	ENSP00000291823:E185D	ENSP00000291823:E185D	E	-	3	2	HIPK4	45581797	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.752000	0.47516	1.478000	0.48253	0.563000	0.77884	GAG		0.632	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		16	57	0	0	0	0	16	57				
PRX	57716	broad.mit.edu	37	19	40900746	40900746	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:40900746C>G	ENST00000324001.7	-	7	3783	c.3513G>C	c.(3511-3513)caG>caC	p.Q1171H	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1171	Glu-rich (acidic).				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGACTGTACTCTGAGCCTGCT	0.662																																						uc002onr.2		NA																	0				ovary(2)	2						c.(3511-3513)CAG>CAC		periaxin isoform 2							94.0	83.0	87.0					19																	40900746		2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40900746C>G	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.3513G>C	19.37:g.40900746C>G	ENSP00000326018:p.Gln1171His					PRX_uc002onq.2_Missense_Mutation_p.Q1032H|PRX_uc002ons.2_3'UTR	p.Q1171H	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	3782	-			1171			Glu-rich (acidic).		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.3513G>C	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	2.650	-0.282119	0.05642	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01092	5.35	4.39	-0.88	0.10610	.	0.509864	0.17962	N	0.156129	T	0.00695	0.0023	N	0.08118	0	0.09310	N	0.999993	B	0.26935	0.164	B	0.28139	0.086	T	0.48246	-0.9052	10	0.66056	D	0.02	-3.2594	4.235	0.10621	0.3107:0.4902:0.0:0.1991	.	1171	Q9BXM0	PRAX_HUMAN	H	1171;1106	ENSP00000326018:Q1171H	ENSP00000326018:Q1171H	Q	-	3	2	PRX	45592586	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	-0.704000	0.05058	0.078000	0.16900	0.561000	0.74099	CAG		0.662	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		4	132	0	0	0	0	4	132				
ATP1A3	478	broad.mit.edu	37	19	42482830	42482830	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:42482830G>A	ENST00000302102.5	-	12	1708	c.1558C>T	c.(1558-1560)Ctg>Ttg	p.L520L	ATP1A3_ENST00000543770.1_Silent_p.L531L|ATP1A3_ENST00000545399.1_Silent_p.L533L|ATP1A3_ENST00000602133.1_Silent_p.L490L	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	520					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|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)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TCCTCGTCCAGAGGCTGCTCC	0.657																																						uc002osg.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1558-1560)CTG>TTG		Na+/K+ -ATPase alpha 3 subunit							79.0	73.0	75.0					19																	42482830		2203	4300	6503	SO:0001819	synonymous_variant	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42482830G>A		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.1558C>T	19.37:g.42482830G>A						ATP1A3_uc010xwf.1_Silent_p.L531L|ATP1A3_uc010xwg.1_Silent_p.L490L|ATP1A3_uc010xwh.1_Silent_p.L533L|ATP1A3_uc002osh.2_Silent_p.L520L	p.L520L	NM_152296	NP_689509	P13637	AT1A3_HUMAN			12	1712	-			520			Cytoplasmic (Potential).		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Silent	SNP	ENST00000302102.5	37	c.1558C>T	CCDS12594.1																																																																																				0.657	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		19	89	0	0	0	0	19	89				
ZNF284	342909	broad.mit.edu	37	19	44590114	44590114	+	Silent	SNP	C	C	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:44590114C>A	ENST00000421176.3	+	5	699	c.483C>A	c.(481-483)atC>atA	p.I161I	ZNF223_ENST00000591793.1_3'UTR|RNU6-902P_ENST00000517212.1_RNA	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	161					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)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				ATGTCTCCATCCTTGATCTTC	0.408																																						uc002oyg.1		NA																	0					0						c.(481-483)ATC>ATA		zinc finger protein 284							57.0	56.0	56.0					19																	44590114		2083	4238	6321	SO:0001819	synonymous_variant	342909				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44590114C>A	AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"""Zinc fingers, C2H2-type"", ""-"""	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.483C>A	19.37:g.44590114C>A						ZNF284_uc010ejd.2_RNA	p.I161I	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN			5	699	+		Prostate(69;0.0435)	161			C2H2-type 1; degenerate.		Q86WM1	Silent	SNP	ENST00000421176.3	37	c.483C>A	CCDS46099.1																																																																																				0.408	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1	NM_001037813		8	23	1	0	0.000157383	0.00020444	8	23				
PVRL2	5819	broad.mit.edu	37	19	45391518	45391518	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:45391518A>G	ENST00000252483.5	+	9	1499	c.1499A>G	c.(1498-1500)gAg>gGg	p.E500G	TOMM40_ENST00000592434.1_5'Flank|TOMM40_ENST00000405636.2_5'Flank|TOMM40_ENST00000252487.5_5'Flank|CTB-129P6.4_ENST00000585408.1_RNA|TOMM40_ENST00000426677.2_5'Flank	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	500					acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		gaggagggggaggaggaggaa	0.577																																						uc002ozw.1		NA																	0					0						c.(1498-1500)GAG>GGG		poliovirus receptor related 2 isoform delta							76.0	75.0	75.0					19																	45391518		1956	4141	6097	SO:0001583	missense	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45391518A>G	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1499A>G	19.37:g.45391518A>G	ENSP00000252483:p.Glu500Gly					TOMM40_uc002ozx.3_5'Flank|TOMM40_uc002ozy.3_5'Flank|TOMM40_uc002paa.3_5'Flank|TOMM40_uc002ozz.2_5'Flank	p.E500G	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	9	1889	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	500			Cytoplasmic (Potential).		A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	ENST00000252483.5	37	c.1499A>G	CCDS42576.1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.080568	0.36662	.	.	ENSG00000130202	ENST00000252483	D	0.84146	-1.81	4.67	4.67	0.58626	.	0.262799	0.27371	N	0.019676	T	0.78773	0.4336	N	0.19112	0.55	0.36454	D	0.866257	D	0.54047	0.964	P	0.47981	0.563	D	0.83805	0.0238	10	0.62326	D	0.03	.	10.6749	0.45781	1.0:0.0:0.0:0.0	.	500	Q92692	PVRL2_HUMAN	G	500	ENSP00000252483:E500G	ENSP00000252483:E500G	E	+	2	0	PVRL2	50083358	0.951000	0.32395	0.966000	0.40874	0.386000	0.30323	3.864000	0.56024	2.093000	0.63338	0.379000	0.24179	GAG		0.577	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		10	49	0	0	0	0	10	49				
SLC1A5	6510	broad.mit.edu	37	19	47290911	47290911	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:47290911G>C	ENST00000542575.2	-	1	940	c.312C>G	c.(310-312)atC>atG	p.I104M	SLC1A5_ENST00000594991.1_5'Flank|SLC1A5_ENST00000434726.2_5'Flank|SLC1A5_ENST00000412532.2_5'Flank	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	104					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CCAGCGGCAAGATGATCATCC	0.721																																						uc002pfs.2		NA																	0					0						c.(310-312)ATC>ATG		solute carrier family 1 member 5 isoform 1	L-Asparagine(DB00174)|L-Glutamine(DB00130)						6.0	7.0	6.0					19																	47290911		2012	4021	6033	SO:0001583	missense	6510				cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity	g.chr19:47290911G>C	U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"""Solute carriers"""	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.312C>G	19.37:g.47290911G>C	ENSP00000444408:p.Ile104Met					SLC1A5_uc010xyh.1_5'Flank|SLC1A5_uc002pfq.2_5'Flank|SLC1A5_uc002pfr.2_5'Flank	p.I104M	NM_005628	NP_005619	Q15758	AAAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	1	932	-		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)	104			Helical; (Potential).		A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Missense_Mutation	SNP	ENST00000542575.2	37	c.312C>G	CCDS12692.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807918	0.90623	.	.	ENSG00000105281	ENST00000542575;ENST00000306894	T	0.64803	-0.12	4.67	3.63	0.41609	Sodium:dicarboxylate symporter, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.75961	0.3921	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78324	-0.2248	10	0.87932	D	0	-37.3271	11.7148	0.51645	0.088:0.0:0.912:0.0	.	104	Q15758	AAAT_HUMAN	M	104;111	ENSP00000444408:I104M	ENSP00000303623:I111M	I	-	3	3	SLC1A5	51982751	1.000000	0.71417	0.988000	0.46212	0.946000	0.59487	3.072000	0.50049	1.194000	0.43101	0.313000	0.20887	ATC		0.721	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466630.1			4	13	0	0	0	0	4	13				
CYTH2	9266	broad.mit.edu	37	19	48981790	48981790	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:48981790G>T	ENST00000452733.2	+	11	1529	c.1053G>T	c.(1051-1053)atG>atT	p.M351I	CYTH2_ENST00000427476.1_Missense_Mutation_p.M352I|CTC-273B12.8_ENST00000599877.1_lincRNA			Q99418	CYH2_HUMAN	cytohesin 2	352	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|inositol 1,4,5 trisphosphate binding (GO:0070679)|lipid binding (GO:0008289)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GAAACCACATGGTGTACCGGA	0.597																																						uc002pjj.3		NA																	0				ovary(1)	1						c.(1054-1056)ATG>ATT		cytohesin 2 isoform 1							66.0	64.0	65.0					19																	48981790		2203	4300	6503	SO:0001583	missense	9266				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr19:48981790G>T	X99753	CCDS12722.1	19q13.32	2014-05-02	2008-08-14	2008-08-14	ENSG00000105443	ENSG00000105443		"""Pleckstrin homology (PH) domain containing"""	9502	protein-coding gene	gene with protein product		602488	"""pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)"", ""pleckstrin homology, Sec7 and coiled-coil domains 2"""	PSCD2L, PSCD2		8706128, 8945478, 20525696	Standard	NM_004228		Approved	CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2	uc002pjj.4	Q99418	OTTHUMG00000150245	ENST00000452733.2:c.1053G>T	19.37:g.48981790G>T	ENSP00000408236:p.Met351Ile					CYTH2_uc002pji.2_RNA	p.M352I	NM_017457	NP_059431	Q99418	CYH2_HUMAN			12	1356	+			352			PH.		A8K8P0|Q8IXY9|Q92958	Missense_Mutation	SNP	ENST00000452733.2	37	c.1056G>T	CCDS12722.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891003	0.52014	.	.	ENSG00000105443	ENST00000452733;ENST00000427476	T;T	0.74842	-0.88;-0.88	4.46	4.46	0.54185	.	0.096519	0.64402	D	0.000003	T	0.44030	0.1274	N	0.00841	-1.15	0.49915	D	0.999839	B	0.02656	0.0	B	0.04013	0.001	T	0.48055	-0.9068	10	0.52906	T	0.07	.	10.8079	0.46529	0.0:0.192:0.808:0.0	.	351	Q99418-2	.	I	351;352	ENSP00000408236:M351I;ENSP00000391648:M352I	ENSP00000391648:M352I	M	+	3	0	CYTH2	53673602	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.056000	0.41355	2.476000	0.83614	0.655000	0.94253	ATG		0.597	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317060.1	NM_004228		9	60	1	0	0.000274275	0.000354501	9	60				
CPT1C	126129	broad.mit.edu	37	19	50208329	50208329	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:50208329C>T	ENST00000392518.4	+	9	1209	c.837C>T	c.(835-837)ctC>ctT	p.L279L	CPT1C_ENST00000598293.1_Silent_p.L279L|CPT1C_ENST00000323446.5_Silent_p.L279L|CPT1C_ENST00000405931.2_Silent_p.L268L|CPT1C_ENST00000354199.5_Silent_p.L279L	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	279					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TCCATGCCCTCCTCCTGTACC	0.652																																						uc002ppj.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(835-837)CTC>CTT		carnitine palmitoyltransferase 1C isoform 2							63.0	66.0	65.0					19																	50208329		2203	4300	6503	SO:0001819	synonymous_variant	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50208329C>T	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.837C>T	19.37:g.50208329C>T						CPT1C_uc002ppl.3_Silent_p.L245L|CPT1C_uc002ppi.2_Silent_p.L196L|CPT1C_uc002ppk.2_Silent_p.L268L|CPT1C_uc010eng.2_Silent_p.L279L|CPT1C_uc010enh.2_Silent_p.L279L|CPT1C_uc010ybc.1_Silent_p.L117L|CPT1C_uc010eni.1_5'Flank	p.L279L	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	8	1042	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	279			Cytoplasmic (Potential).		A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Silent	SNP	ENST00000392518.4	37	c.837C>T	CCDS12779.1																																																																																				0.652	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		21	66	0	0	0	0	21	66				
ZNF473	25888	broad.mit.edu	37	19	50549839	50549839	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:50549839G>C	ENST00000595661.1	+	6	2634	c.2139G>C	c.(2137-2139)caG>caC	p.Q713H	CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Missense_Mutation_p.Q701H|ZNF473_ENST00000391821.2_Missense_Mutation_p.Q713H|ZNF473_ENST00000270617.3_Missense_Mutation_p.Q713H			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	713					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)		CGTTCCGTCAGAGCTCATGCC	0.502											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002prn.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2137-2139)CAG>CAC		zinc finger protein 473							97.0	102.0	100.0					19																	50549839		2203	4300	6503	SO:0001583	missense	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.chr19:50549839G>C	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.2139G>C	19.37:g.50549839G>C	ENSP00000472808:p.Gln713His		OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	970	ZNF473_uc002prm.2_Missense_Mutation_p.Q713H|ZNF473_uc010ybo.1_Missense_Mutation_p.Q701H	p.Q713H	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	5	2376	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	713			C2H2-type 15.		A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	c.2139G>C	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	G	4.880	0.163628	0.09287	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.36157	1.27;1.27;5.25	4.25	2.05	0.26809	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.631054	0.13130	N	0.411496	T	0.22475	0.0542	N	0.17594	0.5	0.09310	N	1	B	0.19817	0.039	B	0.15052	0.012	T	0.17048	-1.0382	10	0.24483	T	0.36	-4.1474	12.5332	0.56128	0.0:0.3176:0.6824:0.0	.	713	Q8WTR7	ZN473_HUMAN	H	713;713;701	ENSP00000270617:Q713H;ENSP00000375697:Q713H;ENSP00000388961:Q701H	ENSP00000270617:Q713H	Q	+	3	2	ZNF473	55241651	0.000000	0.05858	0.016000	0.15963	0.476000	0.33039	-1.732000	0.01851	0.703000	0.31848	0.609000	0.83330	CAG		0.502	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		13	82	0	0	0	0	13	82				
MYBPC2	4606	broad.mit.edu	37	19	50951529	50951529	+	Missense_Mutation	SNP	G	G	A	rs186081920	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:50951529G>A	ENST00000357701.5	+	13	1405	c.1354G>A	c.(1354-1356)Gcc>Acc	p.A452T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	452	Ig-like C2-type 4.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GACGGTGAAGGCCTCAGAACA	0.547																																						uc002psf.2		NA																	0				breast(1)	1						c.(1354-1356)GCC>ACC		myosin binding protein C, fast type							104.0	105.0	104.0					19																	50951529		2029	4203	6232	SO:0001583	missense	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50951529G>A		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.1354G>A	19.37:g.50951529G>A	ENSP00000350332:p.Ala452Thr						p.A452T	NM_004533	NP_004524	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	13	1405	+		all_neural(266;0.057)	452			Ig-like C2-type 4.		A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.1354G>A	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	g	17.72	3.459838	0.63401	.	.	ENSG00000086967	ENST00000357701	T	0.67171	-0.25	3.7	3.7	0.42460	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34555	U	0.003863	T	0.67832	0.2935	L	0.45698	1.435	0.35322	D	0.784882	B	0.33299	0.407	P	0.46208	0.507	T	0.70813	-0.4770	10	0.19590	T	0.45	.	15.1811	0.72960	0.0:0.0:1.0:0.0	.	452	Q14324	MYPC2_HUMAN	T	452	ENSP00000350332:A452T	ENSP00000350332:A452T	A	+	1	0	MYBPC2	55643341	1.000000	0.71417	0.965000	0.40720	0.616000	0.37450	5.722000	0.68485	2.039000	0.60335	0.473000	0.43528	GCC		0.547	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		5	53	0	0	0	0	5	53				
ZNF175	7728	broad.mit.edu	37	19	52090088	52090088	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:52090088C>A	ENST00000262259.2	+	5	862	c.504C>A	c.(502-504)aaC>aaA	p.N168K	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	168					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		AAACATTGAACACAGAAAGCA	0.413																																						uc002pxb.2		NA																	0					0						c.(502-504)AAC>AAA		zinc finger protein 175							95.0	90.0	91.0					19																	52090088		2203	4300	6503	SO:0001583	missense	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52090088C>A	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.504C>A	19.37:g.52090088C>A	ENSP00000262259:p.Asn168Lys						p.N168K	NM_007147	NP_009078	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	882	+		all_neural(266;0.0299)	168					A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	37	c.504C>A	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.337949	0.24253	.	.	ENSG00000105497	ENST00000262259	T	0.06687	3.27	2.2	-2.76	0.05896	.	.	.	.	.	T	0.03477	0.0100	N	0.08118	0	0.22366	N	0.999164	B	0.06786	0.001	B	0.04013	0.001	T	0.44483	-0.9325	9	0.26408	T	0.33	.	5.6354	0.17534	0.0:0.6121:0.1851:0.2028	.	168	Q9Y473	ZN175_HUMAN	K	168	ENSP00000262259:N168K	ENSP00000262259:N168K	N	+	3	2	ZNF175	56781900	0.000000	0.05858	0.003000	0.11579	0.666000	0.39218	-1.020000	0.03618	-0.648000	0.05437	0.655000	0.94253	AAC		0.413	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		18	49	1	0	3.33e-07	4.43e-07	18	49				
NLRP12	91662	broad.mit.edu	37	19	54308652	54308652	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:54308652G>C	ENST00000324134.6	-	5	2464	c.2296C>G	c.(2296-2298)Ctc>Gtc	p.L766V	NLRP12_ENST00000391773.1_Missense_Mutation_p.L767V|NLRP12_ENST00000351894.4_Missense_Mutation_p.L766V|NLRP12_ENST00000535162.1_Missense_Mutation_p.L766V|NLRP12_ENST00000354278.3_Missense_Mutation_p.L766V|NLRP12_ENST00000391775.3_Missense_Mutation_p.L766V|NLRP12_ENST00000345770.5_Missense_Mutation_p.L767V|NLRP12_ENST00000391772.1_Missense_Mutation_p.L767V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	766					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTGGCTATGAGAGCTGCAGAG	0.557																																						uc002qch.3		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(2296-2298)CTC>GTC		NLR family, pyrin domain containing 12 isoform							111.0	110.0	110.0					19																	54308652		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54308652G>C	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2296C>G	19.37:g.54308652G>C	ENSP00000319377:p.Leu766Val					NLRP12_uc010eqw.2_Missense_Mutation_p.L49V|NLRP12_uc002qci.3_Missense_Mutation_p.L766V|NLRP12_uc002qcj.3_Missense_Mutation_p.L767V|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.L767V	p.L766V	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	5	2516	-	Ovarian(34;0.19)		766					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.2296C>G	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503344	0.44558	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000358661;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	3.32	-2.09	0.07232	.	.	.	.	.	T	0.62208	0.2409	M	0.90870	3.155	0.09310	N	1	B;P;B;B;B	0.44195	0.256;0.828;0.108;0.034;0.011	B;B;B;B;B	0.41723	0.063;0.365;0.125;0.038;0.034	T	0.55289	-0.8164	9	0.38643	T	0.18	.	2.3121	0.04189	0.1158:0.3561:0.3464:0.1816	.	767;49;766;766;766	F2Z321;P59046-5;A8K407;A8MTQ2;P59046	.;.;.;.;NAL12_HUMAN	V	766;766;766;766;49;766;767;767;767	ENSP00000319377:L766V;ENSP00000438030:L766V;ENSP00000340473:L766V;ENSP00000346231:L766V;ENSP00000375655:L766V;ENSP00000375653:L767V;ENSP00000375652:L767V	ENSP00000319377:L766V	L	-	1	0	NLRP12	59000464	0.643000	0.27269	0.000000	0.03702	0.271000	0.26615	0.994000	0.29693	-0.380000	0.07894	0.289000	0.19496	CTC		0.557	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		13	105	0	0	0	0	13	105				
CACNG6	59285	broad.mit.edu	37	19	54496185	54496185	+	Silent	SNP	G	G	A	rs538013052	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:54496185G>A	ENST00000252729.2	+	1	644	c.54G>A	c.(52-54)gcG>gcA	p.A18A	CACNG6_ENST00000352529.1_Silent_p.A18A|CACNG6_ENST00000346968.2_Silent_p.A18A	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	18					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		ggggggccgcgggccggcggc	0.741																																						uc002qct.2		NA																	0				ovary(2)	2						c.(52-54)GCG>GCA		voltage-dependent calcium channel gamma-6							7.0	9.0	8.0					19																	54496185		1183	2636	3819	SO:0001819	synonymous_variant	59285					voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54496185G>A	AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"""Calcium channel subunits"""	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.54G>A	19.37:g.54496185G>A						CACNG6_uc002qcu.2_Silent_p.A18A|CACNG6_uc002qcv.2_Silent_p.A18A	p.A18A	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN		GBM - Glioblastoma multiforme(134;0.168)	1	644	+	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		18						Silent	SNP	ENST00000252729.2	37	c.54G>A	CCDS12870.1																																																																																				0.741	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139359.1			4	18	0	0	0	0	4	18				
EPS8L1	54869	broad.mit.edu	37	19	55593493	55593493	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:55593493C>T	ENST00000201647.6	+	10	991	c.935C>T	c.(934-936)tCg>tTg	p.S312L	EPS8L1_ENST00000245618.5_Missense_Mutation_p.S185L|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000540810.1_Missense_Mutation_p.S248L|EPS8L1_ENST00000586329.1_Missense_Mutation_p.S294L|EPS8L1_ENST00000588359.1_Intron	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	312					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		AAGCCGCCCTCGGAGGCCGAG	0.721																																					Ovarian(149;255 1863 3636 27051 29647)	uc002qis.3		NA																	0					0						c.(934-936)TCG>TTG		epidermal growth factor receptor pathway							12.0	13.0	13.0					19																	55593493		2188	4270	6458	SO:0001583	missense	54869					cytoplasm		g.chr19:55593493C>T	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.935C>T	19.37:g.55593493C>T	ENSP00000201647:p.Ser312Leu					EPS8L1_uc010ess.1_Missense_Mutation_p.S294L|EPS8L1_uc010est.1_Missense_Mutation_p.S312L|EPS8L1_uc010yfr.1_Missense_Mutation_p.S248L|EPS8L1_uc010esu.1_RNA|EPS8L1_uc002qiu.2_Missense_Mutation_p.S185L|EPS8L1_uc002qiv.2_5'UTR|EPS8L1_uc002qiw.2_Missense_Mutation_p.S59L	p.S312L	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	10	1039	+			312					Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	c.935C>T	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.161970	0.38217	.	.	ENSG00000131037	ENST00000310075;ENST00000201647;ENST00000540810;ENST00000245618	T;T;T	0.42131	0.98;0.98;0.98	3.42	1.2	0.21068	.	0.673356	0.14262	N	0.330757	T	0.30230	0.0758	L	0.49640	1.575	0.09310	N	1	B;P;P;B;P	0.42456	0.098;0.78;0.501;0.334;0.614	B;B;B;B;B	0.37091	0.026;0.241;0.04;0.103;0.062	T	0.10894	-1.0610	10	0.25106	T	0.35	-2.3684	6.6761	0.23095	0.1923:0.4322:0.3754:0.0	.	248;294;59;185;312	B4DKV7;Q8TE68-3;Q8TE68-4;Q8TE68-2;Q8TE68	.;.;.;.;ES8L1_HUMAN	L	294;312;248;185	ENSP00000201647:S312L;ENSP00000437541:S248L;ENSP00000245618:S185L	ENSP00000201647:S312L	S	+	2	0	EPS8L1	60285305	0.000000	0.05858	0.305000	0.25099	0.671000	0.39405	0.255000	0.18333	0.267000	0.21916	0.491000	0.48974	TCG		0.721	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		7	6	0	0	0	0	7	6				
ZNF543	125919	broad.mit.edu	37	19	57840200	57840200	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:57840200G>C	ENST00000321545.4	+	4	1715	c.1370G>C	c.(1369-1371)gGa>gCa	p.G457A		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAAGAATGTGGAAAAGCCTTT	0.488																																						uc002qoi.1		NA																	0				skin(1)|pancreas(1)	2						c.(1369-1371)GGA>GCA		zinc finger protein 543							75.0	76.0	76.0					19																	57840200		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57840200G>C	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.1370G>C	19.37:g.57840200G>C	ENSP00000322545:p.Gly457Ala						p.G457A	NM_213598	NP_998763	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1715	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	457			C2H2-type 10.		Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.1370G>C	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.046485	0.36085	.	.	ENSG00000178229	ENST00000321545	T	0.22743	1.94	3.0	1.94	0.25998	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44891	0.1315	M	0.84683	2.71	0.28473	N	0.915319	D	0.89917	1.0	D	0.97110	1.0	T	0.26643	-1.0097	9	0.72032	D	0.01	.	5.4327	0.16463	0.1172:0.0:0.6857:0.1971	.	457	Q08ER8	ZN543_HUMAN	A	457	ENSP00000322545:G457A	ENSP00000322545:G457A	G	+	2	0	ZNF543	62532012	0.920000	0.31207	0.821000	0.32701	0.378000	0.30076	1.665000	0.37449	0.577000	0.29470	0.561000	0.74099	GGA		0.488	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		15	52	0	0	0	0	15	52				
ZNF446	55663	broad.mit.edu	37	19	58991811	58991811	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:58991811G>A	ENST00000594369.1	+	7	1452	c.1071G>A	c.(1069-1071)ggG>ggA	p.G357G	ZNF446_ENST00000596341.1_Silent_p.G306G|ZNF446_ENST00000335841.4_Missense_Mutation_p.G329D	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	357					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		ACACGAGTGGGCCAGGTGTGC	0.662																																						uc002qsz.2		NA																	0				ovary(1)	1						c.(1069-1071)GGG>GGA		zinc finger protein 446							32.0	30.0	31.0					19																	58991811		2203	4300	6503	SO:0001819	synonymous_variant	55663				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58991811G>A		CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.1071G>A	19.37:g.58991811G>A						ZNF446_uc002qta.2_Missense_Mutation_p.G329D|ZNF446_uc010eur.2_3'UTR|SLC27A5_uc002qtb.2_RNA	p.G357G	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	7	1188	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	357			C2H2-type 1.			Silent	SNP	ENST00000594369.1	37	c.1071G>A	CCDS12982.1																																																																																				0.662	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467052.1	NM_017908		11	40	0	0	0	0	11	40				
ATP6V1C2	245973	broad.mit.edu	37	2	10917766	10917766	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:10917766T>C	ENST00000272238.4	+	11	990	c.881T>C	c.(880-882)gTt>gCt	p.V294A	ATP6V1C2_ENST00000381661.3_Intron	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	294					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)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GACCACAAGGTTAAGGTAACC	0.512																																					NSCLC(188;1042 2136 10807 16813 47705)	uc002ras.2		NA																	0				ovary(1)	1						c.(880-882)GTT>GCT		vacuolar H+ ATPase C2 isoform a							130.0	126.0	127.0					2																	10917766		1906	4131	6037	SO:0001583	missense	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10917766T>C	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.881T>C	2.37:g.10917766T>C	ENSP00000272238:p.Val294Ala					ATP6V1C2_uc002rat.2_Intron	p.V294A	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	11	990	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		294					Q96EL8	Missense_Mutation	SNP	ENST00000272238.4	37	c.881T>C	CCDS42653.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.733897	0.48939	.	.	ENSG00000143882	ENST00000272238	T	0.42900	0.96	5.22	5.22	0.72569	.	0.000000	0.29822	U	0.011106	T	0.35335	0.0928	L	0.36672	1.1	0.80722	D	1	B	0.33000	0.393	B	0.34536	0.185	T	0.30995	-0.9959	10	0.87932	D	0	-10.2641	11.783	0.52026	0.0:0.0:0.0:1.0	.	294	Q8NEY4	VATC2_HUMAN	A	294	ENSP00000272238:V294A	ENSP00000272238:V294A	V	+	2	0	ATP6V1C2	10835217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.513000	0.53414	2.084000	0.62774	0.482000	0.46254	GTT		0.512	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		17	55	0	0	0	0	17	55				
APOB	338	broad.mit.edu	37	2	21231537	21231537	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:21231537C>G	ENST00000233242.1	-	26	8330	c.8203G>C	c.(8203-8205)Gac>Cac	p.D2735H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2735				Missing (in Ref. 15; AAA51758). {ECO:0000305}.	artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGTGAAGGTCAGGAACTTGA	0.418																																						uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(8203-8205)GAC>CAC		apolipoprotein B precursor	Atorvastatin(DB01076)						187.0	189.0	188.0					2																	21231537		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231537C>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8203G>C	2.37:g.21231537C>G	ENSP00000233242:p.Asp2735His						p.D2735H	NM_000384	NP_000375	P04114	APOB_HUMAN			26	8331	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2735	Missing (in Ref. 15; AAA51758).				O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.8203G>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948515	0.34377	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00848	5.62	5.22	3.27	0.37495	.	0.330520	0.25283	N	0.031791	T	0.02970	0.0088	M	0.72118	2.19	0.80722	D	1	D	0.65815	0.995	P	0.54965	0.765	T	0.48714	-0.9011	10	0.72032	D	0.01	.	9.9676	0.41734	0.0:0.7542:0.0:0.2458	.	2735	P04114	APOB_HUMAN	H	2735	ENSP00000233242:D2735H	ENSP00000233242:D2735H	D	-	1	0	APOB	21085042	0.797000	0.28877	0.906000	0.35671	0.597000	0.36814	0.993000	0.29680	0.480000	0.27534	-0.291000	0.09656	GAC		0.418	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			22	116	0	0	0	0	22	116				
THUMPD2	80745	broad.mit.edu	37	2	39997221	39997221	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:39997221C>T	ENST00000505747.1	-	3	328	c.301G>A	c.(301-303)Gat>Aat	p.D101N	THUMPD2_ENST00000260619.6_Missense_Mutation_p.D71N|THUMPD2_ENST00000403537.3_5'UTR|THUMPD2_ENST00000454352.2_Missense_Mutation_p.D71N	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	101							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				CTTCCTGGATCTTCATTTATA	0.289																																						uc002rru.2		NA																	0				skin(1)	1						c.(301-303)GAT>AAT		THUMP domain containing 2							43.0	44.0	44.0					2																	39997221		2189	4279	6468	SO:0001583	missense	80745						methyltransferase activity	g.chr2:39997221C>T	AF380576	CCDS1805.1, CCDS1805.2	2p22.2	2004-06-04	2004-06-04	2004-06-04	ENSG00000138050	ENSG00000138050			14890	protein-coding gene	gene with protein product		611751	"""chromosome 2 open reading frame 8"""	C2orf8		12063391	Standard	NM_025264		Approved	MGC2454	uc002rru.2	Q9BTF0	OTTHUMG00000102149	ENST00000505747.1:c.301G>A	2.37:g.39997221C>T	ENSP00000423933:p.Asp101Asn					THUMPD2_uc002rrv.2_RNA|THUMPD2_uc010ynt.1_Missense_Mutation_p.D8N|THUMPD2_uc010ynu.1_Missense_Mutation_p.D101N	p.D101N	NM_025264	NP_079540	Q9BTF0	THUM2_HUMAN			3	338	-		all_hematologic(82;0.248)	101					A8K7I7|Q53TT8|Q53TV0	Missense_Mutation	SNP	ENST00000505747.1	37	c.301G>A	CCDS1805.2	.	.	.	.	.	.	.	.	.	.	C	12.94	2.089110	0.36855	.	.	ENSG00000138050	ENST00000505747;ENST00000260619;ENST00000454352	.	.	.	5.71	5.71	0.89125	.	0.150159	0.56097	D	0.000024	T	0.77631	0.4159	M	0.69823	2.125	0.36333	D	0.858996	D;P;P	0.89917	1.0;0.89;0.911	D;B;B	0.79784	0.993;0.286;0.358	T	0.81230	-0.1027	8	.	.	.	.	15.3774	0.74621	0.0:1.0:0.0:0.0	.	71;8;101	E7EUG5;B4DP37;Q9BTF0	.;.;THUM2_HUMAN	N	101;71;71	.	.	D	-	1	0	THUMPD2	39850725	0.997000	0.39634	0.980000	0.43619	0.165000	0.22458	2.415000	0.44635	2.686000	0.91538	0.650000	0.86243	GAT		0.289	THUMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219991.2	NM_025264		5	36	0	0	0	0	5	36				
THUMPD2	80745	broad.mit.edu	37	2	39997224	39997224	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:39997224C>T	ENST00000505747.1	-	3	325	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	THUMPD2_ENST00000260619.6_Missense_Mutation_p.E70K|THUMPD2_ENST00000403537.3_5'UTR|THUMPD2_ENST00000454352.2_Missense_Mutation_p.E70K	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	100							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				CCTGGATCTTCATTTATAAGT	0.299																																						uc002rru.2		NA																	0				skin(1)	1						c.(298-300)GAA>AAA		THUMP domain containing 2							41.0	42.0	42.0					2																	39997224		2187	4278	6465	SO:0001583	missense	80745						methyltransferase activity	g.chr2:39997224C>T	AF380576	CCDS1805.1, CCDS1805.2	2p22.2	2004-06-04	2004-06-04	2004-06-04	ENSG00000138050	ENSG00000138050			14890	protein-coding gene	gene with protein product		611751	"""chromosome 2 open reading frame 8"""	C2orf8		12063391	Standard	NM_025264		Approved	MGC2454	uc002rru.2	Q9BTF0	OTTHUMG00000102149	ENST00000505747.1:c.298G>A	2.37:g.39997224C>T	ENSP00000423933:p.Glu100Lys					THUMPD2_uc002rrv.2_RNA|THUMPD2_uc010ynt.1_Missense_Mutation_p.E7K|THUMPD2_uc010ynu.1_Missense_Mutation_p.E100K	p.E100K	NM_025264	NP_079540	Q9BTF0	THUM2_HUMAN			3	335	-		all_hematologic(82;0.248)	100					A8K7I7|Q53TT8|Q53TV0	Missense_Mutation	SNP	ENST00000505747.1	37	c.298G>A	CCDS1805.2	.	.	.	.	.	.	.	.	.	.	C	6.997	0.554012	0.13374	.	.	ENSG00000138050	ENST00000505747;ENST00000260619;ENST00000454352	.	.	.	5.71	4.84	0.62591	.	0.296293	0.37483	N	0.002075	T	0.25901	0.0631	L	0.40543	1.245	0.25888	N	0.983518	B;P;P	0.36616	0.372;0.501;0.561	B;B;B	0.30316	0.114;0.058;0.079	T	0.12941	-1.0528	8	.	.	.	.	10.84	0.46708	0.0:0.9135:0.0:0.0865	.	70;7;100	E7EUG5;B4DP37;Q9BTF0	.;.;THUM2_HUMAN	K	100;70;70	.	.	E	-	1	0	THUMPD2	39850728	0.994000	0.37717	0.942000	0.38095	0.107000	0.19398	3.312000	0.51927	1.411000	0.46957	-0.157000	0.13467	GAA		0.299	THUMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219991.2	NM_025264		5	35	0	0	0	0	5	35				
ZFP36L2	678	broad.mit.edu	37	2	43451806	43451806	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:43451806C>T	ENST00000282388.3	-	2	1430	c.1137G>A	c.(1135-1137)caG>caA	p.Q379Q	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	379					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)			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)				AGTTGTGGGTCTGGATGGCGA	0.751																																						uc002rsv.3		NA																	0					0						c.(1135-1137)CAG>CAA		zinc finger protein 36, C3H type-like 2																																				SO:0001819	synonymous_variant	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43451806C>T	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.1137G>A	2.37:g.43451806C>T						LOC100129726_uc010ynx.1_5'Flank	p.Q379Q	NM_006887	NP_008818	P47974	TISD_HUMAN			2	1428	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	379					Q53TB4|Q9BSJ3	Silent	SNP	ENST00000282388.3	37	c.1137G>A	CCDS1811.1																																																																																				0.751	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		6	14	0	0	0	0	6	14				
SOCS5	9655	broad.mit.edu	37	2	46986960	46986960	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:46986960G>C	ENST00000306503.5	+	2	1463	c.1291G>C	c.(1291-1293)Gag>Cag	p.E431Q	SOCS5_ENST00000394861.2_Missense_Mutation_p.E431Q	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	431	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TGCCCGAATTGAGCAGTGGAA	0.493																																						uc002rvf.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1291-1293)GAG>CAG		suppressor of cytokine signaling 5							107.0	106.0	106.0					2																	46986960		2203	4300	6503	SO:0001583	missense	9655				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46986960G>C	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1291G>C	2.37:g.46986960G>C	ENSP00000305133:p.Glu431Gln					SOCS5_uc010yoe.1_Missense_Mutation_p.E400Q|SOCS5_uc002rvg.2_Missense_Mutation_p.E431Q	p.E431Q	NM_014011	NP_054730	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	1455	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	431			SH2.		Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	c.1291G>C	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573515	0.65765	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	D;D	0.87809	-2.3;-2.3	5.43	4.54	0.55810	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.91081	0.7193	L	0.48174	1.505	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.92227	0.5789	10	0.87932	D	0	-28.2127	16.0872	0.81065	0.0:0.1341:0.8659:0.0	.	431	O75159	SOCS5_HUMAN	Q	431	ENSP00000305133:E431Q;ENSP00000378330:E431Q	ENSP00000305133:E431Q	E	+	1	0	SOCS5	46840464	1.000000	0.71417	0.743000	0.31040	0.908000	0.53690	9.657000	0.98554	1.516000	0.48900	0.655000	0.94253	GAG		0.493	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			32	87	0	0	0	0	32	87				
PPP1R21	129285	broad.mit.edu	37	2	48687279	48687279	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:48687279C>T	ENST00000294952.8	+	6	743	c.586C>T	c.(586-588)Cga>Tga	p.R196*	PPP1R21_ENST00000449090.2_Nonsense_Mutation_p.R196*|PPP1R21_ENST00000281394.4_Nonsense_Mutation_p.R196*	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	196						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						ATGTCGACTTCGAACGGAAGA	0.428																																						uc002rwm.2		NA																	0				ovary(1)	1						c.(586-588)CGA>TGA		KLRAQ motif containing 1 isoform 1							86.0	80.0	82.0					2																	48687279		2203	4300	6503	SO:0001587	stop_gained	129285							g.chr2:48687279C>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.586C>T	2.37:g.48687279C>T	ENSP00000294952:p.Arg196*					KLRAQ1_uc002rwi.1_Nonsense_Mutation_p.R196*|KLRAQ1_uc002rwj.2_Nonsense_Mutation_p.R196*|KLRAQ1_uc002rwl.2_Nonsense_Mutation_p.R150*|KLRAQ1_uc002rwk.2_Nonsense_Mutation_p.R196*|KLRAQ1_uc010yok.1_Nonsense_Mutation_p.R196*	p.R196*	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN			6	771	+			196			Potential.		B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Nonsense_Mutation	SNP	ENST00000294952.8	37	c.586C>T	CCDS46278.1	.	.	.	.	.	.	.	.	.	.	C	37	6.396164	0.97533	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.18	4.29	0.51040	.	0.125043	0.53938	D	0.000056	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-8.3454	13.0848	0.59133	0.2921:0.7079:0.0:0.0	.	.	.	.	X	196	.	ENSP00000281394:R196X	R	+	1	2	KLRAQ1	48540783	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.113000	0.57851	1.290000	0.44636	0.467000	0.42956	CGA		0.428	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4	NM_152994		11	21	0	0	0	0	11	21				
NRXN1	9378	broad.mit.edu	37	2	50765639	50765639	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:50765639C>A	ENST00000406316.2	-	10	3371	c.1895G>T	c.(1894-1896)tGg>tTg	p.W632L	NRXN1_ENST00000402717.3_Missense_Mutation_p.W624L|NRXN1_ENST00000406859.3_Missense_Mutation_p.W632L|NRXN1_ENST00000404971.1_Missense_Mutation_p.W672L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.W632L|NRXN1_ENST00000405472.3_Missense_Mutation_p.W624L	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	632	Laminin G-like 3. {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)			CAGAGCAGTCCACACCTCGGT	0.517																																						uc010fbq.2		NA																	0				ovary(2)	2						c.(2014-2016)TGG>TTG		neurexin 1 isoform alpha2 precursor							145.0	156.0	152.0					2																	50765639		2200	4300	6500	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.chr2:50765639C>A	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.1895G>T	2.37:g.50765639C>A	ENSP00000384311:p.Trp632Leu					NRXN1_uc002rxb.3_Missense_Mutation_p.W304L|NRXN1_uc002rxe.3_Missense_Mutation_p.W632L|NRXN1_uc002rxc.1_RNA	p.W672L	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		10	3492	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:Variant_position_missing_in_P58400_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2015G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965537	0.92855	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.84083	0.5394	M	0.85373	2.75	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.86538	0.1826	10	0.72032	D	0.01	.	18.4909	0.90846	0.0:1.0:0.0:0.0	.	672;632;624	Q9ULB1-3;F8WB18;A7E294	.;.;.	L	672;632;624;632;673;624;632	ENSP00000385142:W672L;ENSP00000384311:W632L;ENSP00000434015:W624L;ENSP00000385017:W632L;ENSP00000385434:W624L;ENSP00000385681:W632L	ENSP00000385017:W632L	W	-	2	0	NRXN1	50619143	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.651000	0.83577	2.596000	0.87737	0.460000	0.39030	TGG		0.517	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			15	186	1	0	1.05e-09	1.42e-09	15	186				
SMEK2	57223	broad.mit.edu	37	2	55792169	55792169	+	Missense_Mutation	SNP	G	G	C	rs200351314		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:55792169G>C	ENST00000345102.5	-	14	2245	c.1944C>G	c.(1942-1944)atC>atG	p.I648M	SNORA12_ENST00000390873.1_RNA|SMEK2_ENST00000272313.5_Missense_Mutation_p.I563M|SMEK2_ENST00000407823.3_Missense_Mutation_p.I616M	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	648					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TAAGAGACTTGATATCTTCCT	0.279													G|||	1	0.000199681	0.0	0.0	5008	,	,		14590	0.0		0.001	False		,,,				2504	0.0					uc002rzc.2		NA																	0				skin(1)	1						c.(1942-1944)ATC>ATG		SMEK homolog 2, suppressor of mek1 isoform 1		G	MET/ILE,MET/ILE	2,4394	2.1+/-5.4	0,2,2196	54.0	50.0	51.0		1944,1689	4.4	1.0	2		51	12,8580	8.4+/-32.0	0,12,4284	yes	missense,missense	SMEK2	NM_001122964.1,NM_020463.2	10,10	0,14,6480	CC,CG,GG		0.1397,0.0455,0.1078	possibly-damaging,possibly-damaging	648/850,563/765	55792169	14,12974	2198	4296	6494	SO:0001583	missense	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55792169G>C	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.1944C>G	2.37:g.55792169G>C	ENSP00000339769:p.Ile648Met					SMEK2_uc002rzb.2_Missense_Mutation_p.I563M|SMEK2_uc002rzd.2_Missense_Mutation_p.I616M|SMEK2_uc002ryz.2_Missense_Mutation_p.I82M|SMEK2_uc002rza.2_Missense_Mutation_p.I439M	p.I648M	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		14	2319	-			648					Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	c.1944C>G	CCDS46289.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.84	3.232882	0.58777	4.55E-4	0.001397	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	D;D;D	0.94184	-3.37;-3.37;-3.37	5.31	4.43	0.53597	Armadillo-type fold (1);	0.049997	0.85682	D	0.000000	D	0.95481	0.8532	M	0.72894	2.215	0.58432	D	0.999995	P;D;D;D;D	0.76494	0.955;0.996;0.991;0.999;0.974	P;D;P;D;D	0.67725	0.755;0.937;0.82;0.953;0.927	D	0.95169	0.8288	10	0.62326	D	0.03	-6.9016	11.1748	0.48593	0.1534:0.0:0.8466:0.0	.	616;648;563;648;82	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9;Q5MIZ7-5	.;P4R3B_HUMAN;.;.;.	M	563;616;648	ENSP00000272313:I563M;ENSP00000385912:I616M;ENSP00000339769:I648M	ENSP00000272313:I563M	I	-	3	3	SMEK2	55645673	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.272000	0.43373	1.247000	0.43917	0.655000	0.94253	ATC		0.279	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		2	9	0	0	0	0	2	9				
SMEK2	57223	broad.mit.edu	37	2	55806911	55806911	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:55806911C>T	ENST00000345102.5	-	9	1673	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	SMEK2_ENST00000272313.5_Missense_Mutation_p.E458K|SMEK2_ENST00000407823.3_Missense_Mutation_p.E458K	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	458					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCACTTTTTTCGGTTTTCTGA	0.308																																						uc002rzc.2		NA																	0				skin(1)	1						c.(1372-1374)GAA>AAA		SMEK homolog 2, suppressor of mek1 isoform 1							54.0	58.0	57.0					2																	55806911		2203	4297	6500	SO:0001583	missense	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55806911C>T	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.1372G>A	2.37:g.55806911C>T	ENSP00000339769:p.Glu458Lys					SMEK2_uc002rzb.2_Missense_Mutation_p.E458K|SMEK2_uc002rzd.2_Missense_Mutation_p.E458K|SMEK2_uc002rza.2_Missense_Mutation_p.E334K	p.E458K	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		9	1747	-			458					Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	c.1372G>A	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	C	35	5.521463	0.96416	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.64260	1.54;0.75;-0.09	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77110	0.4082	M	0.64170	1.965	0.80722	D	1	D;D;D;D	0.76494	0.992;0.999;0.992;0.995	P;D;P;P	0.67231	0.761;0.95;0.761;0.754	T	0.75584	-0.3267	10	0.44086	T	0.13	-14.265	19.6052	0.95577	0.0:1.0:0.0:0.0	.	458;458;458;458	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9	.;P4R3B_HUMAN;.;.	K	458	ENSP00000272313:E458K;ENSP00000385912:E458K;ENSP00000339769:E458K	ENSP00000272313:E458K	E	-	1	0	SMEK2	55660415	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.629000	0.89072	0.561000	0.74099	GAA		0.308	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		10	25	0	0	0	0	10	25				
APLF	200558	broad.mit.edu	37	2	68805097	68805097	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:68805097G>C	ENST00000303795.4	+	10	1650	c.1479G>C	c.(1477-1479)gaG>gaC	p.E493D	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	493					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						AAGATGAAGAGAAGGAAGATG	0.373																																						uc002sep.2		NA																	0				ovary(2)	2						c.(1477-1479)GAG>GAC		aprataxin and PNKP like factor							121.0	127.0	125.0					2																	68805097		2203	4300	6503	SO:0001583	missense	200558				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	g.chr2:68805097G>C	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.1479G>C	2.37:g.68805097G>C	ENSP00000307004:p.Glu493Asp					APLF_uc002seq.1_RNA|APLF_uc002ser.1_Missense_Mutation_p.E224D	p.E493D	NM_173545	NP_775816	Q8IW19	APLF_HUMAN			10	1652	+			493			Potential.		A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	ENST00000303795.4	37	c.1479G>C	CCDS1888.1	.	.	.	.	.	.	.	.	.	.	G	8.299	0.819530	0.16607	.	.	ENSG00000169621	ENST00000303795	T	0.22945	1.93	5.59	0.0101	0.14082	.	0.291120	0.37761	N	0.001958	T	0.14356	0.0347	L	0.36672	1.1	0.09310	N	0.999991	B	0.21606	0.058	B	0.17098	0.017	T	0.12477	-1.0546	10	0.44086	T	0.13	.	1.8918	0.03249	0.2979:0.2204:0.3693:0.1124	.	493	Q8IW19	APLF_HUMAN	D	493	ENSP00000307004:E493D	ENSP00000307004:E493D	E	+	3	2	APLF	68658601	0.560000	0.26570	0.492000	0.27490	0.887000	0.51463	-0.096000	0.11059	0.053000	0.16036	0.650000	0.86243	GAG		0.373	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		9	36	0	0	0	0	9	36				
ANKRD53	79998	broad.mit.edu	37	2	71211740	71211740	+	Splice_Site	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:71211740G>C	ENST00000360589.3	+	6	937		c.e6-1		ANKRD53_ENST00000272421.6_Splice_Site|ANKRD53_ENST00000457410.1_Splice_Site|ANKRD53_ENST00000441349.1_Splice_Site|AC007040.11_ENST00000606025.1_Intron	NM_001115116.1	NP_001108588.1	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53											endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						TGTTGTTGCAGAAAGAGCACA	0.547											OREG0014687	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002shl.3		NA																	0					0						c.e6-1		ankyrin repeat domain 53 isoform a							96.0	95.0	95.0					2																	71211740		2203	4300	6503	SO:0001630	splice_region_variant	79998							g.chr2:71211740G>C	BC035234	CCDS1913.1, CCDS46321.1	2p13.3	2013-01-10			ENSG00000144031	ENSG00000144031		"""Ankyrin repeat domain containing"""	25691	protein-coding gene	gene with protein product							Standard	NM_024933		Approved	FLJ12056, FLJ36160	uc002shl.4	Q8N9V6	OTTHUMG00000129712	ENST00000360589.3:c.904-1G>C	2.37:g.71211740G>C			OREG0014687	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1128	ANKRD53_uc002shk.3_Splice_Site_p.*344_splice|ANKRD53_uc002shm.3_Splice_Site_p.*255_splice	p.K302_splice	NM_001115116	NP_001108588	Q8N9V6	ANR53_HUMAN			6	1105	+								Q8IYP8	Splice_Site	SNP	ENST00000360589.3	37	c.904_splice	CCDS46321.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135948	0.37728	.	.	ENSG00000144031	ENST00000457410;ENST00000360589	.	.	.	3.91	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7199	0.51677	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKRD53	71065248	1.000000	0.71417	0.995000	0.50966	0.118000	0.20060	4.788000	0.62439	2.465000	0.83290	0.563000	0.77884	.		0.547	ANKRD53-004	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330275.2	NM_024933	Intron	7	99	0	0	0	0	7	99				
MPHOSPH10	10199	broad.mit.edu	37	2	71360440	71360440	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:71360440G>A	ENST00000244230.2	+	2	854	c.502G>A	c.(502-504)Gat>Aat	p.D168N	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.D168N	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	168					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						CGTTTTCAGTGATGAGGATTC	0.443																																						uc002sht.1		NA																	0				skin(2)|ovary(1)	3						c.(502-504)GAT>AAT		M-phase phosphoprotein 10							107.0	106.0	106.0					2																	71360440		2203	4300	6503	SO:0001583	missense	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71360440G>A	X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.502G>A	2.37:g.71360440G>A	ENSP00000244230:p.Asp168Asn					MPHOSPH10_uc010feb.1_Missense_Mutation_p.D168N	p.D168N	NM_005791	NP_005782	O00566	MPP10_HUMAN			2	854	+			168					A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	c.502G>A	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456123	0.84209	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.11495	2.77;2.77	5.05	4.17	0.49024	.	0.099482	0.64402	D	0.000002	T	0.27765	0.0683	M	0.64997	1.995	0.51482	D	0.999921	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.985	T	0.00978	-1.1493	10	0.54805	T	0.06	.	11.3717	0.49704	0.0898:0.0:0.9102:0.0	.	168;168	B3KPV5;O00566	.;MPP10_HUMAN	N	168;28	ENSP00000244230:D168N;ENSP00000393034:D28N	ENSP00000244230:D168N	D	+	1	0	MPHOSPH10	71213948	1.000000	0.71417	0.967000	0.41034	0.959000	0.62525	8.383000	0.90157	1.274000	0.44362	0.491000	0.48974	GAT		0.443	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		7	70	0	0	0	0	7	70				
AFF3	3899	broad.mit.edu	37	2	100625344	100625344	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:100625344C>T	ENST00000409236.2	-	3	216	c.104G>A	c.(103-105)aGa>aAa	p.R35K	AFF3_ENST00000317233.4_Missense_Mutation_p.R35K|AFF3_ENST00000409579.1_Missense_Mutation_p.R60K|AFF3_ENST00000356421.2_Missense_Mutation_p.R60K			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	35					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTCTTGATTTCTTCTTTCTCG	0.393																																						uc002tag.2		NA																	0				ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(103-105)AGA>AAA		AF4/FMR2 family, member 3 isoform 1							309.0	264.0	279.0					2																	100625344		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100625344C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.104G>A	2.37:g.100625344C>T	ENSP00000387207:p.Arg35Lys					AFF3_uc002taf.2_Missense_Mutation_p.R60K|AFF3_uc010fiq.1_Missense_Mutation_p.R35K|AFF3_uc010yvr.1_Missense_Mutation_p.R189K|AFF3_uc002tah.1_Missense_Mutation_p.R60K|AFF3_uc010fir.1_Missense_Mutation_p.R112K|AFF3_uc002tai.2_5'Flank	p.R35K	NM_002285	NP_002276	P51826	AFF3_HUMAN			4	340	-			35					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.104G>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	35	5.501277	0.96371	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288;ENST00000432037;ENST00000423966;ENST00000441400;ENST00000424600;ENST00000416492;ENST00000440445	T;T;T;T;T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	5.97	5.97	0.96955	.	0.236840	0.36268	N	0.002691	D	0.88804	0.6536	M	0.73962	2.25	0.39273	D	0.96442	D;D;D;D	0.89917	1.0;0.998;0.999;0.998	D;D;D;D	0.87578	0.998;0.99;0.994;0.99	D	0.89414	0.3705	10	0.87932	D	0	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	189;189;35;60	B7Z4I6;C9JXV5;P51826;P51826-2	.;.;AFF3_HUMAN;.	K	35;60;60;35;35;189;60;35;35;35;35;35;112	ENSP00000317421:R35K;ENSP00000348793:R60K;ENSP00000386834:R60K;ENSP00000387207:R35K;ENSP00000406484:R35K;ENSP00000396582:R35K;ENSP00000399795:R35K;ENSP00000411383:R35K;ENSP00000395068:R35K;ENSP00000393732:R112K	ENSP00000317421:R35K	R	-	2	0	AFF3	99991776	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.797000	0.75150	2.836000	0.97738	0.655000	0.94253	AGA		0.393	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		4	22	0	0	0	0	4	22				
POTEF	728378	broad.mit.edu	37	2	130877784	130877784	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:130877784C>T	ENST00000409914.2	-	3	704	c.305G>A	c.(304-306)tGc>tAc	p.C102Y	POTEF_ENST00000357462.5_Missense_Mutation_p.C102Y|POTEF_ENST00000360967.5_Missense_Mutation_p.C102Y|POTEF_ENST00000361163.4_Missense_Mutation_p.C102Y	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	102					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GCAGTGGCAGCACCACTTGCC	0.607																																						uc010fmh.2		NA																	0				skin(3)|ovary(2)	5						c.(304-306)TGC>TAC		prostate, ovary, testis expressed protein on							85.0	109.0	101.0					2																	130877784		2203	4295	6498	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877784C>T	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.305G>A	2.37:g.130877784C>T	ENSP00000386786:p.Cys102Tyr						p.C102Y	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			3	705	-			102					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.305G>A	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	5.604	0.296194	0.10622	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.77620	-1.11;-1.11;1.71;1.76	0.562	-1.12	0.09808	.	.	.	.	.	T	0.66287	0.2774	L	0.46157	1.445	0.09310	N	1	B	0.15141	0.012	B	0.04013	0.001	T	0.55623	-0.8112	8	0.87932	D	0	.	.	.	.	.	102	A5A3E0	POTEF_HUMAN	Y	102	ENSP00000350052:C102Y;ENSP00000386786:C102Y;ENSP00000354232:C102Y;ENSP00000355012:C102Y	ENSP00000350052:C102Y	C	-	2	0	POTEF	130594254	0.002000	0.14202	0.012000	0.15200	0.083000	0.17756	-0.040000	0.12104	-0.499000	0.06623	0.074000	0.15403	TGC		0.607	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		36	258	0	0	0	0	36	258				
LRP1B	53353	broad.mit.edu	37	2	142004806	142004806	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:142004806T>C	ENST00000389484.3	-	5	1552	c.581A>G	c.(580-582)aAg>aGg	p.K194R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	194	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATTTTAGCCTTGCAAGATCT	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(580-582)AAG>AGG		low density lipoprotein-related protein 1B							135.0	123.0	127.0					2																	142004806		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:142004806T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.581A>G	2.37:g.142004806T>C	ENSP00000374135:p.Lys194Arg	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.K194R	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	5	1553	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	194			Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.581A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	11.51	1.659842	0.29515	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.97480	-4.4	5.53	4.38	0.52667	Growth factor, receptor (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.169329	0.39759	N	0.001263	D	0.92312	0.7561	N	0.25201	0.72	0.29615	N	0.846624	B	0.17465	0.022	B	0.14578	0.011	D	0.85647	0.1280	10	0.23891	T	0.37	.	11.1464	0.48432	0.0:0.0721:0.0:0.9279	.	194	Q9NZR2	LRP1B_HUMAN	R	194;132	ENSP00000374135:K194R	ENSP00000374135:K194R	K	-	2	0	LRP1B	141721276	1.000000	0.71417	0.938000	0.37757	0.051000	0.14879	1.808000	0.38912	2.224000	0.72417	0.528000	0.53228	AAG		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	50	0	0	0	0	7	50				
WDSUB1	151525	broad.mit.edu	37	2	160104982	160104982	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:160104982C>T	ENST00000409990.3	-	10	1430	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	WDSUB1_ENST00000409124.1_Intron|WDSUB1_ENST00000358147.4_Missense_Mutation_p.E300K|WDSUB1_ENST00000359774.4_Missense_Mutation_p.E392K|WDSUB1_ENST00000392796.3_Missense_Mutation_p.E392K	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	392	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.						ubiquitin-protein transferase activity (GO:0004842)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GTCCTGAGCTCTTCAATTTTC	0.388																																						uc002uaj.3		NA																	0					0						c.(1174-1176)GAG>AAG		WD repeat, sterile alpha motif and U-box domain							104.0	105.0	105.0					2																	160104982		2203	4300	6503	SO:0001583	missense	151525					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr2:160104982C>T	AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"""WD repeat domain containing"", ""Sterile alpha motif (SAM) domain containing"", ""U-box domain containing"""	26697	protein-coding gene	gene with protein product			"""WD repeat and SAM domain containing 1"", ""WD repeat, SAM and U-box domain containing 1"""	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.1174G>A	2.37:g.160104982C>T	ENSP00000387078:p.Glu392Lys					WDSUB1_uc002uak.3_Missense_Mutation_p.E392K|WDSUB1_uc002ual.3_Missense_Mutation_p.E392K|WDSUB1_uc002uam.3_Intron|WDSUB1_uc010foo.2_Missense_Mutation_p.E300K	p.E392K	NM_152528	NP_689741	Q8N9V3	WSDU1_HUMAN			10	1323	-			392			SAM.		Q53TI9|Q8N6N8	Missense_Mutation	SNP	ENST00000409990.3	37	c.1174G>A	CCDS2208.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679428	0.68042	.	.	ENSG00000196151	ENST00000359774;ENST00000358147;ENST00000392796;ENST00000409990	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	5.84	5.84	0.93424	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.096256	0.64402	D	0.000001	T	0.79805	0.4509	L	0.40543	1.245	0.80722	D	1	B;B	0.27997	0.197;0.024	B;B	0.25614	0.062;0.024	T	0.76052	-0.3100	10	0.40728	T	0.16	.	14.3162	0.66452	0.0:0.9292:0.0:0.0708	.	300;392	Q8N9V3-2;Q8N9V3	.;WSDU1_HUMAN	K	392;300;392;392	ENSP00000352820:E392K;ENSP00000350866:E300K;ENSP00000376545:E392K;ENSP00000387078:E392K	ENSP00000350866:E300K	E	-	1	0	WDSUB1	159813228	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.712000	0.68407	2.765000	0.95021	0.557000	0.71058	GAG		0.388	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333339.1	NM_152528		7	53	0	0	0	0	7	53				
KCNH7	90134	broad.mit.edu	37	2	163253401	163253401	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:163253401G>C	ENST00000332142.5	-	11	2561	c.2462C>G	c.(2461-2463)tCt>tGt	p.S821C		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	821					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)	ATCTGCATTAGACTTTCCAGG	0.373																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1		NA																	0				ovary(3)|skin(2)	5						c.(2461-2463)TCT>TGT		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						87.0	87.0	87.0					2																	163253401		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163253401G>C	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.2462C>G	2.37:g.163253401G>C	ENSP00000331727:p.Ser821Cys						p.S821C	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			11	2674	-			821			Cytoplasmic (Potential).|cNMP.		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.2462C>G	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439933	0.83885	.	.	ENSG00000184611	ENST00000332142	D	0.96856	-4.15	5.67	5.67	0.87782	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.111229	0.64402	D	0.000006	D	0.97851	0.9294	M	0.73319	2.225	0.80722	D	1	D	0.60160	0.987	D	0.67900	0.954	D	0.98283	1.0509	10	0.72032	D	0.01	.	19.7712	0.96366	0.0:0.0:1.0:0.0	.	821	Q9NS40	KCNH7_HUMAN	C	821	ENSP00000331727:S821C	ENSP00000331727:S821C	S	-	2	0	KCNH7	162961647	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.677000	0.91161	0.585000	0.79938	TCT		0.373	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		15	31	0	0	0	0	15	31				
SCN3A	6328	broad.mit.edu	37	2	165986604	165986604	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:165986604C>T	ENST00000360093.3	-	17	3259	c.2768G>A	c.(2767-2769)cGg>cAg	p.R923Q	SCN3A_ENST00000283254.7_Missense_Mutation_p.R923Q|SCN3A_ENST00000409101.3_Missense_Mutation_p.R874Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	923					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATGTGCCACCGTGGGAGCGT	0.512																																						uc002ucx.2		NA																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(2767-2769)CGG>CAG		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						162.0	155.0	158.0					2																	165986604		2202	4281	6483	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165986604C>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2768G>A	2.37:g.165986604C>T	ENSP00000353206:p.Arg923Gln					SCN3A_uc002ucy.2_Missense_Mutation_p.R874Q|SCN3A_uc002ucz.2_Missense_Mutation_p.R874Q|SCN3A_uc002uda.1_Missense_Mutation_p.R743Q|SCN3A_uc002udb.1_Missense_Mutation_p.R743Q	p.R923Q	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			17	3260	-			923					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.2768G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.416951	0.96092	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95	5.63	5.63	0.86233	Ion transport (1);	0.000000	0.64402	D	0.000013	D	0.99149	0.9706	M	0.88031	2.925	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.998;0.998;1.0	D;D;D;D;D	0.97110	1.0;0.992;0.986;0.986;1.0	D	0.99577	1.0972	10	0.87932	D	0	.	19.6755	0.95930	0.0:1.0:0.0:0.0	.	923;874;874;874;923	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	Q	923;923;874;874	ENSP00000353206:R923Q;ENSP00000283254:R923Q;ENSP00000386726:R874Q;ENSP00000403348:R874Q	ENSP00000283254:R923Q	R	-	2	0	SCN3A	165694850	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	7.776000	0.85560	2.652000	0.90054	0.563000	0.77884	CGG		0.512	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		49	179	0	0	0	0	49	179				
HOXD8	3234	broad.mit.edu	37	2	176996323	176996323	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:176996323G>A	ENST00000313173.4	+	2	1483	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Missense_Mutation_p.E182K|HOXD8_ENST00000429017.1_Missense_Mutation_p.E102K|HOXD8_ENST00000544999.1_Missense_Mutation_p.E285K|HOXD8_ENST00000450510.2_Missense_Mutation_p.E285K	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	286					anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		AGACAGAGCCGAAGGCCTGAC	0.423																																						uc002uko.2		NA																	0					0						c.(856-858)GAA>AAA		homeobox D8							40.0	48.0	45.0					2																	176996323		2203	4299	6502	SO:0001583	missense	3234				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176996323G>A		CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"""Homeoboxes / ANTP class : HOXL subclass"""	5139	protein-coding gene	gene with protein product		142985	"""homeo box D8"""	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.856G>A	2.37:g.176996323G>A	ENSP00000315949:p.Glu286Lys					uc002ukm.1_5'Flank|HOXD8_uc002ukn.2_Missense_Mutation_p.E102K|HOXD8_uc002ukp.2_Missense_Mutation_p.E285K	p.E286K	NM_019558	NP_062458	P13378	HXD8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	2	1474	+			286					F8WBG7|Q5BL00|Q8IXZ1	Missense_Mutation	SNP	ENST00000313173.4	37	c.856G>A	CCDS2268.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.495915	0.44352	.	.	ENSG00000175879	ENST00000429017;ENST00000313173;ENST00000544999;ENST00000548663;ENST00000450510	D;D;D;D;D	0.91945	-2.81;-2.94;-2.84;-2.67;-2.84	6.03	5.14	0.70334	.	0.219553	0.30142	N	0.010320	D	0.83746	0.5321	N	0.24115	0.695	0.39064	D	0.960582	P;P	0.48998	0.918;0.918	B;B	0.33799	0.17;0.17	D	0.83441	0.0043	10	0.16896	T	0.51	.	17.4043	0.87469	0.0:0.1246:0.8754:0.0	.	285;286	Q8IXZ1;P13378	.;HXD8_HUMAN	K	102;286;285;182;285	ENSP00000406045:E102K;ENSP00000315949:E286K;ENSP00000437431:E285K;ENSP00000448196:E182K;ENSP00000409026:E285K	ENSP00000315949:E286K	E	+	1	0	HOXD8	176704569	1.000000	0.71417	0.882000	0.34594	0.772000	0.43724	5.104000	0.64584	1.543000	0.49345	0.655000	0.94253	GAA		0.423	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255694.1			12	29	0	0	0	0	12	29				
TTN	7273	broad.mit.edu	37	2	179403892	179403892	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:179403892C>T	ENST00000591111.1	-	303	94071	c.93847G>A	c.(93847-93849)Gat>Aat	p.D31283N	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D24051N|TTN_ENST00000460472.2_Missense_Mutation_p.D23859N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D23984N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D32924N|TTN_ENST00000342992.6_Missense_Mutation_p.D30356N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591867.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31283	Fibronectin type-III 128. {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)			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)			GAACCACCATCATCTTTGGGC	0.468																																						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.(91066-91068)GAT>AAT		titin isoform N2-A							158.0	152.0	154.0					2																	179403892		1997	4170	6167	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179403892C>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.93847G>A	2.37:g.179403892C>T	ENSP00000465570:p.Asp31283Asn					uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D24051N|TTN_uc010zfi.1_Missense_Mutation_p.D23984N|TTN_uc010zfj.1_Missense_Mutation_p.D23859N	p.D30356N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		302	91290	-			31283					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.91066G>A		.	.	.	.	.	.	.	.	.	.	C	27.0	4.791843	0.90453	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76335	0.3973	M	0.63843	1.955	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	0.75616	-0.3256	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	23859;23984;24051;31283	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	30356;23859;24051;23984;23856	ENSP00000343764:D30356N;ENSP00000434586:D23859N;ENSP00000340554:D24051N;ENSP00000352154:D23984N	ENSP00000340554:D24051N	D	-	1	0	TTN	179112138	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GAT		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	60	0	0	0	0	16	60				
TTN	7273	broad.mit.edu	37	2	179554565	179554565	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:179554565C>G	ENST00000591111.1	-	120	31094	c.30870G>C	c.(30868-30870)aaG>aaC	p.K10290N	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K10607N|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K9363N			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				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)			CTTCCTTTTTCTTTGCAACAG	0.378																																						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.(28087-28089)AAG>AAC		titin isoform N2-A							169.0	164.0	165.0					2																	179554565		1833	4087	5920	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179554565C>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.30870G>C	2.37:g.179554565C>G	ENSP00000465570:p.Lys10290Asn					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K6024N|TTN_uc010fre.1_Missense_Mutation_p.K474N	p.K9363N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		119	28313	-			10290					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.28089G>C		.	.	.	.	.	.	.	.	.	.	C	15.94	2.980842	0.53827	.	.	ENSG00000155657	ENST00000342992;ENST00000414766;ENST00000473181	T;T	0.73897	-0.79;-0.79	5.53	4.42	0.53409	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.82051	0.4953	M	0.76727	2.345	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.997	T	0.82456	-0.0448	9	0.87932	D	0	.	4.0761	0.09904	0.0:0.6815:0.0:0.3185	.	10290;10290	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	N	9363;485;117	ENSP00000343764:K9363N;ENSP00000401501:K485N	ENSP00000343764:K9363N	K	-	3	2	TTN	179262810	0.838000	0.29461	1.000000	0.80357	0.908000	0.53690	-0.123000	0.10611	2.756000	0.94617	0.655000	0.94253	AAG		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	188	0	0	0	0	10	188				
TTN	7273	broad.mit.edu	37	2	179612368	179612368	+	Intron	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:179612368G>C	ENST00000591111.1	-	45	10585				TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.T4920S|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron			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)			GGTGTCTTTAGTTTCAGGAAC	0.428																																						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.(14758-14760)ACT>AGT		titin isoform novex-3							97.0	95.0	96.0					2																	179612368		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179612368G>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+5482C>G	2.37:g.179612368G>C						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.T4920S	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	14983	-			1043					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.14759C>G		.	.	.	.	.	.	.	.	.	.	G	16.41	3.116307	0.56505	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.56941	0.43	5.48	-1.74	0.08056	.	.	.	.	.	T	0.35335	0.0928	L	0.36672	1.1	0.09310	N	1	B	0.22211	0.066	B	0.18561	0.022	T	0.22208	-1.0223	9	0.24483	T	0.36	.	6.2002	0.20571	0.509:0.0:0.3673:0.1237	.	4920	Q8WZ42-6	.	S	4920;234	ENSP00000354117:T4920S	ENSP00000304714:T234S	T	-	2	0	TTN	179320613	0.000000	0.05858	0.048000	0.18961	0.419000	0.31324	0.236000	0.17967	-0.029000	0.13827	-0.143000	0.13931	ACT		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	55	0	0	0	0	7	55				
PLCL1	5334	broad.mit.edu	37	2	198950579	198950579	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:198950579G>A	ENST00000428675.1	+	2	2736	c.2338G>A	c.(2338-2340)Gaa>Aaa	p.E780K	PLCL1_ENST00000437704.2_Missense_Mutation_p.E682K	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	780	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TATTTTTGATGAAACTTTTGA	0.388																																						uc010fsp.2		NA																	0				ovary(1)|skin(1)	2						c.(2338-2340)GAA>AAA		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						121.0	115.0	117.0					2																	198950579		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950579G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2338G>A	2.37:g.198950579G>A	ENSP00000402861:p.Glu780Lys					PLCL1_uc002uuv.3_Missense_Mutation_p.E701K	p.E780K	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	2629	+			780			C2.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2338G>A	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210816	0.79240	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.77750	-1.12;-1.12	5.36	5.36	0.76844	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000002	D	0.89938	0.6860	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90306	0.4333	9	.	.	.	.	19.2914	0.94102	0.0:0.0:1.0:0.0	.	780;706	Q15111;B4DYZ4	PLCL1_HUMAN;.	K	780;682	ENSP00000402861:E780K;ENSP00000414138:E682K	.	E	+	1	0	PLCL1	198658824	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.643000	0.98464	2.793000	0.96121	0.561000	0.74099	GAA		0.388	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		18	75	0	0	0	0	18	75				
BMPR2	659	broad.mit.edu	37	2	203397344	203397344	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:203397344G>C	ENST00000374580.4	+	9	1704	c.1165G>C	c.(1165-1167)Gaa>Caa	p.E389Q	BMPR2_ENST00000374574.2_Missense_Mutation_p.E389Q	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	389	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AGAAGTGCTAGAAGGAGCTGT	0.378																																						uc002uzf.3		NA																	0				ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						c.(1165-1167)GAA>CAA		bone morphogenetic protein receptor type II							108.0	107.0	108.0					2																	203397344		2203	4300	6503	SO:0001583	missense	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203397344G>C	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.1165G>C	2.37:g.203397344G>C	ENSP00000363708:p.Glu389Gln					BMPR2_uc010ftr.2_Missense_Mutation_p.E389Q	p.E389Q	NM_001204	NP_001195	Q13873	BMPR2_HUMAN			9	2313	+			389			Protein kinase.|Cytoplasmic (Potential).		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.1165G>C	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	G	34	5.392510	0.96009	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	T;T	0.64618	-0.11;-0.11	5.52	5.52	0.82312	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76118	0.3943	L	0.49571	1.57	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.73380	0.923;0.98	T	0.76868	-0.2800	10	0.72032	D	0.01	.	19.785	0.96433	0.0:0.0:1.0:0.0	.	389;389	Q13161;Q13873	.;BMPR2_HUMAN	Q	389	ENSP00000363708:E389Q;ENSP00000363702:E389Q	ENSP00000363702:E389Q	E	+	1	0	BMPR2	203105589	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	9.534000	0.98061	2.761000	0.94854	0.655000	0.94253	GAA		0.378	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		7	35	0	0	0	0	7	35				
ANKZF1	55139	broad.mit.edu	37	2	220098917	220098917	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:220098917G>C	ENST00000323348.5	+	9	1285	c.1111G>C	c.(1111-1113)Gag>Cag	p.E371Q	ANKZF1_ENST00000409849.1_Missense_Mutation_p.E161Q|ANKZF1_ENST00000410034.3_Missense_Mutation_p.E371Q|GLB1L_ENST00000497855.1_5'Flank	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	371						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACAGTAAGAGAGGAGAGAAA	0.458																																						uc002vkg.2		NA																	0				ovary(2)	2						c.(1111-1113)GAG>CAG		ankyrin repeat and zinc finger domain containing							63.0	64.0	64.0					2																	220098917		1862	4110	5972	SO:0001583	missense	55139					intracellular	zinc ion binding	g.chr2:220098917G>C	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1111G>C	2.37:g.220098917G>C	ENSP00000321617:p.Glu371Gln					ANKZF1_uc010zkv.1_Missense_Mutation_p.E315Q|ANKZF1_uc010zkw.1_Missense_Mutation_p.E161Q|ANKZF1_uc002vkh.2_Missense_Mutation_p.E161Q|ANKZF1_uc002vki.2_Missense_Mutation_p.E371Q|ANKZF1_uc002vkj.1_Missense_Mutation_p.E359Q	p.E371Q	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1285	+		Renal(207;0.0474)	371					Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	c.1111G>C	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	G	4.368	0.067766	0.08436	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	T;T;T	0.26223	1.75;1.96;1.75	3.48	1.41	0.22369	.	0.960684	0.08664	N	0.911961	T	0.13415	0.0325	L	0.27053	0.805	0.09310	N	1	B;B;B	0.32160	0.092;0.358;0.056	B;B;B	0.25291	0.04;0.059;0.018	T	0.27872	-1.0061	10	0.16420	T	0.52	0.0062	4.4038	0.11399	0.3383:0.0:0.6617:0.0	.	315;161;371	B4DZT1;B4E0V1;Q9H8Y5	.;.;ANKZ1_HUMAN	Q	371;161;371	ENSP00000321617:E371Q;ENSP00000386815:E161Q;ENSP00000386337:E371Q	ENSP00000321617:E371Q	E	+	1	0	ANKZF1	219807161	0.000000	0.05858	0.001000	0.08648	0.775000	0.43874	0.230000	0.17852	0.642000	0.30620	0.655000	0.94253	GAG		0.458	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		11	31	0	0	0	0	11	31				
ANKZF1	55139	broad.mit.edu	37	2	220098992	220098992	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:220098992G>A	ENST00000323348.5	+	9	1360	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K	ANKZF1_ENST00000409849.1_Missense_Mutation_p.E186K|ANKZF1_ENST00000410034.3_Missense_Mutation_p.E396K|GLB1L_ENST00000497855.1_5'Flank	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	396						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGCAGAATGAGGAATCTCC	0.438																																						uc002vkg.2		NA																	0				ovary(2)	2						c.(1186-1188)GAG>AAG		ankyrin repeat and zinc finger domain containing							108.0	112.0	111.0					2																	220098992		1869	4107	5976	SO:0001583	missense	55139					intracellular	zinc ion binding	g.chr2:220098992G>A	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1186G>A	2.37:g.220098992G>A	ENSP00000321617:p.Glu396Lys					ANKZF1_uc010zkv.1_Missense_Mutation_p.E340K|ANKZF1_uc010zkw.1_Missense_Mutation_p.E186K|ANKZF1_uc002vkh.2_Missense_Mutation_p.E186K|ANKZF1_uc002vki.2_Missense_Mutation_p.E396K|ANKZF1_uc002vkj.1_Missense_Mutation_p.E384K	p.E396K	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1360	+		Renal(207;0.0474)	396					Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	c.1186G>A	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.904576	0.33628	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	T;T;T	0.26957	1.7;1.91;1.7	4.89	4.01	0.46588	.	1.429140	0.04086	N	0.310544	T	0.22475	0.0542	L	0.31294	0.92	0.09310	N	0.999998	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.12156	0.007;0.003;0.001	T	0.19451	-1.0305	10	0.30078	T	0.28	-0.1022	9.0492	0.36365	0.099:0.0:0.901:0.0	.	340;186;396	B4DZT1;B4E0V1;Q9H8Y5	.;.;ANKZ1_HUMAN	K	396;186;396	ENSP00000321617:E396K;ENSP00000386815:E186K;ENSP00000386337:E396K	ENSP00000321617:E396K	E	+	1	0	ANKZF1	219807236	0.013000	0.17824	0.089000	0.20774	0.165000	0.22458	1.509000	0.35780	1.289000	0.44618	0.655000	0.94253	GAG		0.438	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		24	67	0	0	0	0	24	67				
CHPF	79586	broad.mit.edu	37	2	220408002	220408002	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:220408002G>A	ENST00000243776.6	-	1	507	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	CHPF_ENST00000535926.1_5'Flank|TMEM198_ENST00000373883.3_5'Flank|CHPF_ENST00000373891.2_Missense_Mutation_p.R87C|TMEM198_ENST00000344458.2_5'Flank	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	87					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGCAAGACGCGCGGCTCCCAA	0.746																																						uc002vmc.3		NA																	0					0						c.(259-261)CGC>TGC		chondroitin polymerizing factor							9.0	13.0	12.0					2																	220408002		1955	4168	6123	SO:0001583	missense	79586					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	g.chr2:220408002G>A	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.259C>T	2.37:g.220408002G>A	ENSP00000243776:p.Arg87Cys					CHPF_uc010zlh.1_5'Flank|CHPF_uc002vmd.3_Missense_Mutation_p.R87C|TMEM198_uc002vme.2_5'Flank|TMEM198_uc002vmf.2_5'Flank	p.R87C	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	1	486	-		Renal(207;0.0183)	87			Lumenal (Potential).		B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	37	c.259C>T	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508700	0.85282	.	.	ENSG00000123989	ENST00000243776;ENST00000373891	T	0.13778	2.56	3.21	3.21	0.36854	.	0.000000	0.64402	D	0.000002	T	0.33089	0.0851	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.85130	0.997;0.874	T	0.11372	-1.0590	10	0.87932	D	0	-1.8671	12.3327	0.55049	0.0:0.0:1.0:0.0	.	87;87	F8W6H2;Q8IZ52	.;CHSS2_HUMAN	C	87	ENSP00000243776:R87C	ENSP00000243776:R87C	R	-	1	0	CHPF	220116246	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.317000	0.51968	2.088000	0.63022	0.484000	0.47621	CGC		0.746	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		5	25	0	0	0	0	5	25				
CHPF	79586	broad.mit.edu	37	2	220408070	220408070	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:220408070G>A	ENST00000243776.6	-	1	439	c.191C>T	c.(190-192)tCg>tTg	p.S64L	CHPF_ENST00000535926.1_5'Flank|TMEM198_ENST00000373883.3_5'Flank|CHPF_ENST00000373891.2_Missense_Mutation_p.S64L|TMEM198_ENST00000344458.2_5'Flank	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	64					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGGCTGCACCGAGTTGGGCCG	0.756																																						uc002vmc.3		NA																	0					0						c.(190-192)TCG>TTG		chondroitin polymerizing factor							5.0	7.0	7.0					2																	220408070		1846	3911	5757	SO:0001583	missense	79586					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	g.chr2:220408070G>A	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.191C>T	2.37:g.220408070G>A	ENSP00000243776:p.Ser64Leu					CHPF_uc010zlh.1_5'Flank|CHPF_uc002vmd.3_Missense_Mutation_p.S64L|TMEM198_uc002vme.2_5'Flank|TMEM198_uc002vmf.2_5'Flank	p.S64L	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	1	418	-		Renal(207;0.0183)	64			Lumenal (Potential).		B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	37	c.191C>T	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664966	0.47572	.	.	ENSG00000123989	ENST00000243776;ENST00000373891	T	0.13420	2.59	3.09	3.09	0.35607	.	0.000000	0.64402	D	0.000005	T	0.07234	0.0183	N	0.08118	0	0.80722	D	1	D;P	0.54047	0.964;0.614	B;B	0.41412	0.356;0.084	T	0.35126	-0.9801	10	0.41790	T	0.15	-8.7631	12.0662	0.53590	0.0:0.0:1.0:0.0	.	64;64	F8W6H2;Q8IZ52	.;CHSS2_HUMAN	L	64	ENSP00000243776:S64L	ENSP00000243776:S64L	S	-	2	0	CHPF	220116314	0.924000	0.31332	0.994000	0.49952	0.589000	0.36550	2.288000	0.43514	2.021000	0.59480	0.484000	0.47621	TCG		0.756	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		7	19	0	0	0	0	7	19				
EPHA4	2043	broad.mit.edu	37	2	222428965	222428965	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:222428965G>A	ENST00000281821.2	-	3	350	c.309C>T	c.(307-309)ttC>ttT	p.F103F	EPHA4_ENST00000409938.1_Silent_p.F103F|EPHA4_ENST00000409854.1_Silent_p.F103F|EPHA4_ENST00000392071.4_Silent_p.F52F	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	103	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CCCTCAAGGTGAATTTAATCT	0.473																																						uc002vmq.2		NA																	0				lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12						c.(307-309)TTC>TTT		ephrin receptor EphA4 precursor							114.0	111.0	112.0					2																	222428965		2203	4300	6503	SO:0001819	synonymous_variant	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222428965G>A	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.309C>T	2.37:g.222428965G>A						EPHA4_uc002vmr.2_Silent_p.F103F|EPHA4_uc010zlm.1_Silent_p.F44F|EPHA4_uc010zln.1_Silent_p.F103F	p.F103F	NM_004438	NP_004429	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	3	351	-		Renal(207;0.0183)	103			Extracellular (Potential).		A8K2P1|B2R601|B7Z6Q8|Q2M380	Silent	SNP	ENST00000281821.2	37	c.309C>T	CCDS2447.1																																																																																				0.473	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			19	87	0	0	0	0	19	87				
GPR55	9290	broad.mit.edu	37	2	231774833	231774833	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:231774833C>T	ENST00000392040.1	-	2	1037	c.845G>A	c.(844-846)tGc>tAc	p.C282Y	GPR55_ENST00000392039.2_Missense_Mutation_p.C282Y|AC012507.4_ENST00000454890.1_RNA	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	282					activation of phospholipase C activity (GO:0007202)|bone resorption (GO:0045453)|cannabinoid signaling pathway (GO:0038171)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho protein signal transduction (GO:0035025)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		AACATCCAGGCAGCAGTTGAC	0.512																																						uc002vrg.2		NA																	0				ovary(1)	1						c.(844-846)TGC>TAC		G protein-coupled receptor 55							101.0	100.0	100.0					2																	231774833		2203	4300	6503	SO:0001583	missense	9290				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	g.chr2:231774833C>T	AF096786	CCDS2480.1	2q37	2012-08-21			ENSG00000135898	ENSG00000135898		"""GPCR / Class A : Orphans"""	4511	protein-coding gene	gene with protein product		604107				9931487	Standard	NM_005683		Approved		uc002vrg.3	Q9Y2T6	OTTHUMG00000133224	ENST00000392040.1:c.845G>A	2.37:g.231774833C>T	ENSP00000375894:p.Cys282Tyr					GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.C282Y	p.C282Y	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)	2	1038	-		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	282			Helical; Name=7; (Potential).		Q8N580	Missense_Mutation	SNP	ENST00000392040.1	37	c.845G>A	CCDS2480.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426593	0.83667	.	.	ENSG00000135898	ENST00000392040;ENST00000392039	T;T	0.42131	0.98;0.98	5.43	5.43	0.79202	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70727	0.3257	M	0.88450	2.955	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	T	0.76919	-0.2781	10	0.87932	D	0	-41.2825	16.7238	0.85416	0.0:1.0:0.0:0.0	.	282	Q9Y2T6	GPR55_HUMAN	Y	282	ENSP00000375894:C282Y;ENSP00000375893:C282Y	ENSP00000375893:C282Y	C	-	2	0	GPR55	231483077	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.901000	0.69861	2.522000	0.85027	0.561000	0.74099	TGC		0.512	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332618.1	NM_005683		24	80	0	0	0	0	24	80				
B3GNT7	93010	broad.mit.edu	37	2	232262649	232262649	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:232262649C>T	ENST00000287590.5	+	2	480	c.219C>T	c.(217-219)ccC>ccT	p.P73P	B3GNT7_ENST00000479618.1_3'UTR|AC017104.6_ENST00000415129.1_RNA	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	73					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)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CGCCCACGCCCATGGCCTCTC	0.617																																						uc002vrs.2		NA																	0					0						c.(217-219)CCC>CCT		UDP-GlcNAc:betaGal							38.0	43.0	41.0					2																	232262649		1928	4123	6051	SO:0001819	synonymous_variant	93010				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr2:232262649C>T	AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"""Beta 3-glycosyltransferases"""	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.219C>T	2.37:g.232262649C>T							p.P73P	NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)	2	399	+		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	73			Lumenal (Potential).		B3KWY4|B7WNP0	Silent	SNP	ENST00000287590.5	37	c.219C>T	CCDS46540.1																																																																																				0.617	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332827.1	NM_145236		15	54	0	0	0	0	15	54				
DIS3L2	129563	broad.mit.edu	37	2	233164768	233164768	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:233164768C>G	ENST00000409307.1	+	13	1678	c.1678C>G	c.(1678-1680)Ctg>Gtg	p.L560V	DIS3L2_ENST00000325385.7_Missense_Mutation_p.L560V|DIS3L2_ENST00000273009.6_Intron					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TGCTTTCACTCTGGACCACGA	0.423																																						uc010fxz.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1678-1680)CTG>GTG		DIS3 mitotic control homolog (S.							79.0	72.0	74.0					2																	233164768		1920	4129	6049	SO:0001583	missense	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233164768C>G	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1678C>G	2.37:g.233164768C>G	ENSP00000386799:p.Leu560Val					DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA	p.L560V	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	14	1954	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	560						Missense_Mutation	SNP	ENST00000409307.1	37	c.1678C>G	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.712063	0.68730	.	.	ENSG00000144535	ENST00000542873;ENST00000325385;ENST00000431466;ENST00000409307;ENST00000424049	T;T;T	0.38077	1.16;1.16;1.16	5.91	5.01	0.66863	Ribonuclease II/R (2);	0.089550	0.46758	D	0.000261	T	0.45994	0.1370	L	0.50847	1.595	0.80722	D	1	P	0.46952	0.887	P	0.59221	0.854	T	0.43032	-0.9416	10	0.51188	T	0.08	-11.11	6.6574	0.22994	0.0:0.7087:0.179:0.1123	.	560	Q8IYB7	DI3L2_HUMAN	V	560;560;560;560;195	ENSP00000315569:L560V;ENSP00000386799:L560V;ENSP00000415419:L195V	ENSP00000315569:L560V	L	+	1	2	DIS3L2	232873012	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	3.616000	0.54174	1.460000	0.47911	0.655000	0.94253	CTG		0.423	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		9	37	0	0	0	0	9	37				
HES6	55502	broad.mit.edu	37	2	239148343	239148343	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:239148343C>G	ENST00000272937.5	-	2	345	c.127G>C	c.(127-129)Gag>Cag	p.E43Q	HES6_ENST00000409356.1_Silent_p.T68T|HES6_ENST00000409160.3_Missense_Mutation_p.E43Q|HES6_ENST00000409002.3_Missense_Mutation_p.E43Q|HES6_ENST00000409574.1_Missense_Mutation_p.E43Q|HES6_ENST00000409182.1_Intron|AC096574.4_ENST00000456601.1_RNA					hes family bHLH transcription factor 6											lung(1)|skin(1)	2		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TGCAGGCTCTCGTTGATCCGC	0.791																																						uc002vxz.2		NA																	0				skin(1)	1						c.(127-129)GAG>CAG		hairy and enhancer of split 6 isoform a							3.0	3.0	3.0					2																	239148343		1678	3648	5326	SO:0001583	missense	55502				cell differentiation	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr2:239148343C>G	AB035179	CCDS2527.1, CCDS46556.1, CCDS63180.1	2q37.3	2013-10-17	2013-10-17		ENSG00000144485	ENSG00000144485		"""Basic helix-loop-helix proteins"""	18254	protein-coding gene	gene with protein product		610331	"""hairy and enhancer of split 6 (Drosophila)"""			10851137	Standard	XM_005246095		Approved	bHLHb41	uc002vxz.3	Q96HZ4	OTTHUMG00000133340	ENST00000272937.5:c.127G>C	2.37:g.239148343C>G	ENSP00000272937:p.Glu43Gln					HES6_uc002vya.2_Missense_Mutation_p.E43Q|HES6_uc002vyb.2_Missense_Mutation_p.E43Q	p.E43Q	NM_018645	NP_061115	Q96HZ4	HES6_HUMAN		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)	2	262	-		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	43			Helix-loop-helix motif.			Missense_Mutation	SNP	ENST00000272937.5	37	c.127G>C	CCDS2527.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	27.2|27.2	4.807484|4.807484	0.90623|0.90623	.|.	.|.	ENSG00000144485|ENSG00000144485	ENST00000272937;ENST00000409160;ENST00000409002;ENST00000409574|ENST00000436051	D;D;D;D|.	0.97994|.	-4.65;-4.65;-4.65;-4.65|.	3.32|3.32	3.32|3.32	0.38043|0.38043	Helix-loop-helix DNA-binding (5);|.	0.246036|.	0.38326|.	U|.	0.001726|.	T|T	0.59169|0.59169	0.2174|0.2174	L|L	0.41027|0.41027	1.25|1.25	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.998;0.96;0.968|.	P;P;P|.	0.62649|.	0.905;0.666;0.775|.	T|T	0.64223|0.64223	-0.6458|-0.6458	10|6	0.48119|0.87932	T|D	0.1|0	.|.	12.4875|12.4875	0.55881|0.55881	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	43;43;43|.	Q96HZ4-2;Q96HZ4-3;Q96HZ4|.	.;.;HES6_HUMAN|.	Q|P	43|106	ENSP00000272937:E43Q;ENSP00000387215:E43Q;ENSP00000387155:E43Q;ENSP00000387008:E43Q|.	ENSP00000272937:E43Q|ENSP00000392596:R106P	E|R	-|-	1|2	0|0	HES6|HES6	238813082|238813082	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.911000|0.911000	0.54048|0.54048	4.616000|4.616000	0.61197|0.61197	1.587000|1.587000	0.49959|0.49959	0.187000|0.187000	0.17357|0.17357	GAG|CGA		0.791	HES6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257170.2	NM_018645		2	9	0	0	0	0	2	9				
FLRT3	23767	broad.mit.edu	37	20	14307152	14307152	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr20:14307152C>T	ENST00000378053.3	-	2	1257	c.1001G>A	c.(1000-1002)tGc>tAc	p.C334Y	MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.C334Y|FLRT3_ENST00000462077.1_5'Flank	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	334	LRRCT.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TGGGGCTTGGCACATGAGCCC	0.473																																						uc002wov.1		NA																	0				kidney(1)	1						c.(1000-1002)TGC>TAC		fibronectin leucine rich transmembrane protein 3							130.0	116.0	120.0					20																	14307152		2203	4300	6503	SO:0001583	missense	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14307152C>T	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.1001G>A	20.37:g.14307152C>T	ENSP00000367292:p.Cys334Tyr					MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.C334Y	p.C334Y	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	3	1468	-		Colorectal(1;0.0464)	334			Extracellular (Potential).|LRRCT.		D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	c.1001G>A	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396097	0.62177	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.02837	4.14;4.14	6.06	6.06	0.98353	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.30479	0.0766	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48736	-0.9009	10	0.87932	D	0	-10.0169	20.6397	0.99537	0.0:1.0:0.0:0.0	.	334	Q9NZU0	FLRT3_HUMAN	Y	334	ENSP00000367292:C334Y;ENSP00000339912:C334Y	ENSP00000339912:C334Y	C	-	2	0	FLRT3	14255152	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.818000	0.86416	2.880000	0.98712	0.650000	0.86243	TGC		0.473	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		22	87	0	0	0	0	22	87				
DNMT3B	1789	broad.mit.edu	37	20	31385005	31385005	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr20:31385005G>C	ENST00000328111.2	+	14	1711	c.1390G>C	c.(1390-1392)Gag>Cag	p.E464Q	DNMT3B_ENST00000353855.2_Missense_Mutation_p.E444Q|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000348286.2_Missense_Mutation_p.E444Q|DNMT3B_ENST00000344505.4_Missense_Mutation_p.E444Q|DNMT3B_ENST00000443239.3_Missense_Mutation_p.E402Q|DNMT3B_ENST00000456297.2_Missense_Mutation_p.E368Q|DNMT3B_ENST00000201963.3_Missense_Mutation_p.E456Q	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	464	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCGCTTCCTTGAGCTGTTTTA	0.572																																						uc002wyc.2		NA																	0				lung(3)|ovary(2)	5						c.(1390-1392)GAG>CAG		DNA cytosine-5 methyltransferase 3 beta isoform							90.0	93.0	92.0					20																	31385005		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31385005G>C		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1390G>C	20.37:g.31385005G>C	ENSP00000328547:p.Glu464Gln					DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Missense_Mutation_p.E444Q|DNMT3B_uc002wye.2_Missense_Mutation_p.E444Q|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.E402Q|DNMT3B_uc010zua.1_Missense_Mutation_p.E368Q|DNMT3B_uc002wyf.2_Missense_Mutation_p.E456Q|DNMT3B_uc002wyg.2_Missense_Mutation_p.E163Q	p.E464Q	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN			14	1711	+			464			GATA-type; atypical.|ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.1390G>C	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759912	0.89932	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	D;D;D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17;-4.17;-4.17	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.97926	0.9318	M	0.74389	2.26	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.997;1.0;1.0;0.999;0.998;0.999;0.998	D;D;D;D;D;D;D	0.73380	0.94;0.974;0.961;0.98;0.973;0.98;0.949	D	0.98468	1.0599	10	0.72032	D	0.01	-37.9485	18.6328	0.91366	0.0:0.0:1.0:0.0	.	368;402;163;456;444;444;464	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	Q	464;444;444;402;368;444;456	ENSP00000328547:E464Q;ENSP00000313397:E444Q;ENSP00000337764:E444Q;ENSP00000403169:E402Q;ENSP00000412305:E368Q;ENSP00000345105:E444Q;ENSP00000201963:E456Q	ENSP00000201963:E456Q	E	+	1	0	DNMT3B	30848666	1.000000	0.71417	0.963000	0.40424	0.805000	0.45488	9.396000	0.97270	2.720000	0.93068	0.655000	0.94253	GAG		0.572	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		23	119	0	0	0	0	23	119				
RBL1	5933	broad.mit.edu	37	20	35696531	35696531	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr20:35696531C>G	ENST00000373664.3	-	3	415	c.349G>C	c.(349-351)Gaa>Caa	p.E117Q	RBL1_ENST00000344359.3_Missense_Mutation_p.E117Q	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	117					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCACGAAATTCTTGTGGTAGA	0.279																																						uc002xgi.2		NA																	0				lung(5)|skin(3)|ovary(2)	10						c.(349-351)GAA>CAA		retinoblastoma-like protein 1 isoform a							38.0	38.0	38.0					20																	35696531		2202	4300	6502	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35696531C>G	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.349G>C	20.37:g.35696531C>G	ENSP00000362768:p.Glu117Gln					RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.E117Q|RBL1_uc010gfv.1_RNA	p.E117Q	NM_002895	NP_002886	P28749	RBL1_HUMAN			3	428	-		Myeloproliferative disorder(115;0.00878)	117					A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.349G>C	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369590	0.61624	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	T;T	0.73575	-0.76;-0.76	5.1	5.1	0.69264	Domain of unknown function DUF3452, retinoblastoma-associated (1);	0.103239	0.64402	D	0.000004	T	0.75752	0.3892	L	0.41236	1.265	0.53005	D	0.999962	P;B	0.47962	0.903;0.425	P;B	0.50490	0.642;0.3	T	0.75525	-0.3287	10	0.42905	T	0.14	-2.9513	18.7028	0.91627	0.0:1.0:0.0:0.0	.	117;117	P28749-2;P28749	.;RBL1_HUMAN	Q	117	ENSP00000362768:E117Q;ENSP00000343646:E117Q	ENSP00000343646:E117Q	E	-	1	0	RBL1	35129945	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.842000	0.69417	2.663000	0.90544	0.591000	0.81541	GAA		0.279	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		7	16	0	0	0	0	7	16				
CHD6	84181	broad.mit.edu	37	20	40045305	40045305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr20:40045305G>A	ENST00000373233.3	-	33	6586	c.6409C>T	c.(6409-6411)Cga>Tga	p.R2137*	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2137					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.R2137*(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AGGCTGGTTCGAGAACCAGCA	0.587																																						uc002xka.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(6409-6411)CGA>TGA		chromodomain helicase DNA binding protein 6							66.0	60.0	62.0					20																	40045305		2203	4300	6503	SO:0001587	stop_gained	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40045305G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6409C>T	20.37:g.40045305G>A	ENSP00000362330:p.Arg2137*					CHD6_uc002xjz.1_5'Flank	p.R2137*	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			33	6587	-		Myeloproliferative disorder(115;0.00425)	2137					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Nonsense_Mutation	SNP	ENST00000373233.3	37	c.6409C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	46	12.880823	0.99703	.	.	ENSG00000124177	ENST00000373233	.	.	.	5.46	4.49	0.54785	.	0.000000	0.48767	D	0.000165	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.7328	10.8428	0.46726	0.0:0.123:0.6913:0.1856	.	.	.	.	X	2137	.	ENSP00000362330:R2137X	R	-	1	2	CHD6	39478719	0.995000	0.38212	0.996000	0.52242	0.568000	0.35870	1.667000	0.37471	1.392000	0.46585	0.655000	0.94253	CGA		0.587	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			5	88	0	0	0	0	5	88				
SLC2A10	81031	broad.mit.edu	37	20	45354422	45354422	+	Silent	SNP	C	C	T	rs41283042		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr20:45354422C>T	ENST00000359271.2	+	2	997	c.747C>T	c.(745-747)aaC>aaT	p.N249N		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	249					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GGCAGCCCAACGTGCTGTGCT	0.617																																						uc002xsl.2		NA																	0				ovary(1)	1						c.(745-747)AAC>AAT		solute carrier family 2 member 10							112.0	102.0	105.0					20																	45354422		2203	4300	6503	SO:0001819	synonymous_variant	81031					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr20:45354422C>T	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.747C>T	20.37:g.45354422C>T							p.N249N	NM_030777	NP_110404	O95528	GTR10_HUMAN			2	844	+		Myeloproliferative disorder(115;0.0122)	249			Helical; Name=7; (Potential).		A8K4J6|Q3MIX5|Q9H4I6	Silent	SNP	ENST00000359271.2	37	c.747C>T	CCDS13402.1																																																																																				0.617	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2			38	112	0	0	0	0	38	112				
LAMA5	3911	broad.mit.edu	37	20	60897442	60897442	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr20:60897442C>T	ENST00000252999.3	-	47	6295	c.6229G>A	c.(6229-6231)Gag>Aag	p.E2077K		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2077	Laminin EGF-like 21. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TCGGAGCCCTCGGCGGCCGGT	0.706																																						uc002ycq.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(6229-6231)GAG>AAG		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						11.0	16.0	15.0					20																	60897442		2140	4269	6409	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60897442C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6229G>A	20.37:g.60897442C>T	ENSP00000252999:p.Glu2077Lys						p.E2077K	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		47	6296	-	Breast(26;1.57e-08)		2077			Laminin EGF-like 21.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.6229G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	3.770	-0.047908	0.07407	.	.	ENSG00000130702	ENST00000252999	T	0.34275	1.37	3.82	0.372	0.16173	EGF-like, laminin (3);EGF-like region, conserved site (1);	0.633886	0.15222	N	0.273847	T	0.16854	0.0405	N	0.13043	0.29	0.19300	N	0.99998	B	0.15141	0.012	B	0.08055	0.003	T	0.29212	-1.0019	10	0.06099	T	0.92	.	10.4956	0.44775	0.0:0.6589:0.0:0.3411	.	2077	O15230	LAMA5_HUMAN	K	2077	ENSP00000252999:E2077K	ENSP00000252999:E2077K	E	-	1	0	LAMA5	60330837	0.000000	0.05858	0.090000	0.20809	0.668000	0.39293	-0.168000	0.09925	0.277000	0.22141	0.485000	0.47835	GAG		0.706	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		4	14	0	0	0	0	4	14				
PPDPF	79144	broad.mit.edu	37	20	62153084	62153084	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr20:62153084C>T	ENST00000370179.3	+	4	393	c.197C>T	c.(196-198)cCg>cTg	p.P66L	PPDPF_ENST00000370177.1_Missense_Mutation_p.P92L|PPDPF_ENST00000473620.1_3'UTR	NM_024299.2	NP_077275.1	Q9H3Y8	PPDPF_HUMAN	pancreatic progenitor cell differentiation and proliferation factor	66					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)					kidney(1)|lung(2)|ovary(1)	4						TCCACCCTCCCGTTCATGGCC	0.642																																						uc002yff.2		NA																	0					0						c.(196-198)CCG>CTG		pancreatic progenitor cell differentiation and							66.0	65.0	65.0					20																	62153084		2203	4300	6503	SO:0001583	missense	79144				cell differentiation|multicellular organismal development			g.chr20:62153084C>T	AL121829	CCDS13523.1	20q13.33	2013-07-23	2013-07-23	2009-06-04	ENSG00000125534	ENSG00000125534			16142	protein-coding gene	gene with protein product	"""exocrine differentiation and proliferation factor"""		"""chromosome 20 open reading frame 149"", ""pancreatic progenitor cell differentiation and proliferation factor homolog (zebrafish)"""	C20orf149			Standard	NM_024299		Approved	dJ697K14.9, exdpf	uc002yff.3	Q9H3Y8	OTTHUMG00000032978	ENST00000370179.3:c.197C>T	20.37:g.62153084C>T	ENSP00000359198:p.Pro66Leu						p.P66L	NM_024299	NP_077275	Q9H3Y8	PPDPF_HUMAN			4	337	+			66					E1P5J2|Q4VXP1|Q9H3Y7	Missense_Mutation	SNP	ENST00000370179.3	37	c.197C>T	CCDS13523.1	.	.	.	.	.	.	.	.	.	.	.	21.3	4.135202	0.77662	.	.	ENSG00000125534	ENST00000370179;ENST00000370178;ENST00000370177	.	.	.	4.62	4.62	0.57501	.	0.175489	0.50627	D	0.000101	T	0.80347	0.4606	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83734	0.0200	9	0.66056	D	0.02	-9.139	17.1054	0.86662	0.0:1.0:0.0:0.0	.	66	Q9H3Y8	PPDPF_HUMAN	L	66;66;92	.	ENSP00000359196:P92L	P	+	2	0	PPDPF	61623528	0.944000	0.32072	0.129000	0.21949	0.279000	0.26890	2.977000	0.49297	2.107000	0.64212	0.650000	0.86243	CCG;CCA;CCG		0.642	PPDPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080149.1			15	42	0	0	0	0	15	42				
ZNF512B	57473	broad.mit.edu	37	20	62597952	62597952	+	Silent	SNP	G	G	A	rs143583869		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr20:62597952G>A	ENST00000450537.1	-	5	636	c.576C>T	c.(574-576)atC>atT	p.I192I	ZNF512B_ENST00000217130.3_Silent_p.I192I|ZNF512B_ENST00000369888.1_Silent_p.I192I			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	192					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)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGCTCACTCCGATGGGCTTGC	0.612																																						uc002yhl.1		NA																	0					0						c.(574-576)ATC>ATT		zinc finger protein 512B							106.0	102.0	104.0					20																	62597952		2203	4300	6503	SO:0001819	synonymous_variant	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62597952G>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.576C>T	20.37:g.62597952G>A							p.I192I	NM_020713	NP_065764	Q96KM6	Z512B_HUMAN			5	630	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		192					Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	37	c.576C>T	CCDS13548.1																																																																																				0.612	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		43	105	0	0	0	0	43	105				
KRTAP19-1	337882	broad.mit.edu	37	21	31852536	31852536	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr21:31852536C>T	ENST00000390689.2	-	1	127	c.101G>A	c.(100-102)aGa>aAa	p.R34K		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	34	26 X 2 AA repeats of G-[YCGS].					intermediate filament (GO:0005882)				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						AGAACCCCGTCTGCAGAAGCT	0.587																																						uc011acx.1		NA																	0					0						c.(100-102)AGA>AAA		keratin associated protein 19-1							156.0	165.0	162.0					21																	31852536		2203	4300	6503	SO:0001583	missense	337882					intermediate filament		g.chr21:31852536C>T	AJ457067	CCDS13594.1	21q22.1	2010-03-10			ENSG00000184351	ENSG00000184351		"""Keratin associated proteins"""	18936	protein-coding gene	gene with protein product						12359730	Standard	NM_181607		Approved	KAP19.1	uc011acx.2	Q8IUB9	OTTHUMG00000057768	ENST00000390689.2:c.101G>A	21.37:g.31852536C>T	ENSP00000375108:p.Arg34Lys						p.R34K	NM_181607	NP_853638	Q8IUB9	KR191_HUMAN			1	101	-			34			26 X 2 AA repeats of G-[YCGS].		A4QN27|Q3LI75	Missense_Mutation	SNP	ENST00000390689.2	37	c.101G>A	CCDS13594.1	.	.	.	.	.	.	.	.	.	.	C	9.369	1.070019	0.20147	.	.	ENSG00000184351	ENST00000390689;ENST00000433652	T	0.10382	2.88	4.82	1.93	0.25924	.	.	.	.	.	T	0.09423	0.0232	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.14578	0.011	T	0.29150	-1.0021	8	0.87932	D	0	.	7.8685	0.29552	0.0:0.6959:0.1355:0.1686	.	34	Q8IUB9	KR191_HUMAN	K	34	ENSP00000375108:R34K	ENSP00000375108:R34K	R	-	2	0	KRTAP19-1	30774407	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.274000	0.18680	0.048000	0.15891	-1.094000	0.02160	AGA		0.587	KRTAP19-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128220.2			71	211	0	0	0	0	71	211				
TTC3	7267	broad.mit.edu	37	21	38520891	38520891	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr21:38520891C>G	ENST00000399017.2	+	23	4809	c.2062C>G	c.(2062-2064)Cac>Gac	p.H688D	TTC3_ENST00000354749.2_Missense_Mutation_p.H688D|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.H688D|TTC3_ENST00000540756.1_Missense_Mutation_p.H378D	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	688					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AATAGAATTTCACATGAATTG	0.308																																					Ovarian(38;194 1649 35661)	uc002yvz.2		NA																	0				skin(3)|ovary(2)|lung(2)|breast(2)	9						c.(2062-2064)CAC>GAC		tetratricopeptide repeat domain 3							73.0	81.0	78.0					21																	38520891		2203	4295	6498	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38520891C>G	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.2062C>G	21.37:g.38520891C>G	ENSP00000381981:p.His688Asp					TTC3_uc011aee.1_Missense_Mutation_p.H378D|TTC3_uc002ywa.2_Missense_Mutation_p.H688D|TTC3_uc002ywb.2_Missense_Mutation_p.H688D|TTC3_uc010gnf.2_Missense_Mutation_p.H453D|TTC3_uc002ywc.2_Missense_Mutation_p.H378D|TTC3_uc011aed.1_Missense_Mutation_p.H378D	p.H688D	NM_001001894	NP_001001894	P53804	TTC3_HUMAN			23	2167	+		Myeloproliferative disorder(46;0.0412)	688					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.2062C>G	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039298	0.75617	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;D;T;T;D;T;T	0.85171	-0.11;-1.88;0.02;-0.12;-1.95;-0.12;-0.12	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000007	T	0.80003	0.4544	L	0.36672	1.1	0.58432	D	0.999993	B;P	0.39665	0.18;0.682	B;B	0.34590	0.051;0.186	T	0.83314	-0.0021	10	0.87932	D	0	-10.0188	18.2868	0.90117	0.0:1.0:0.0:0.0	.	378;688	B4DSZ9;P53804	.;TTC3_HUMAN	D	688;688;670;688;378;688;688	ENSP00000403943:H688D;ENSP00000408456:H688D;ENSP00000391891:H670D;ENSP00000347889:H688D;ENSP00000442875:H378D;ENSP00000381981:H688D;ENSP00000346791:H688D	ENSP00000346791:H688D	H	+	1	0	TTC3	37442761	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.306000	0.72810	2.475000	0.83589	0.650000	0.86243	CAC		0.308	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			24	86	0	0	0	0	24	86				
DYRK1A	1859	broad.mit.edu	37	21	38862551	38862551	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr21:38862551G>A	ENST00000398960.2	+	6	814	c.739G>A	c.(739-741)Gac>Aac	p.D247N	DYRK1A_ENST00000398956.2_Missense_Mutation_p.D247N|DYRK1A_ENST00000455387.2_Missense_Mutation_p.D19N|DYRK1A_ENST00000451934.1_Missense_Mutation_p.D247N|DYRK1A_ENST00000339659.4_Missense_Mutation_p.D238N|DYRK1A_ENST00000338785.3_Missense_Mutation_p.D247N|DYRK1A_ENST00000321219.8_Missense_Mutation_p.D247N	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	247	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	p.D247H(1)		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						CAACCTCTATGACTTGCTGAG	0.413																																					Melanoma(114;464 1602 31203 43785 45765)	uc002ywk.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(2)|lung(1)|breast(1)	4						c.(739-741)GAC>AAC		dual-specificity tyrosine-(Y)-phosphorylation							75.0	75.0	75.0					21																	38862551		2203	4299	6502	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.chr21:38862551G>A	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.739G>A	21.37:g.38862551G>A	ENSP00000381932:p.Asp247Asn					DYRK1A_uc002ywi.2_Missense_Mutation_p.D247N|DYRK1A_uc002ywj.2_Missense_Mutation_p.D238N|DYRK1A_uc002ywl.2_Missense_Mutation_p.D247N|DYRK1A_uc002ywm.2_Missense_Mutation_p.D247N|DYRK1A_uc011aei.1_Missense_Mutation_p.D8N	p.D247N	NM_001396	NP_001387	Q13627	DYR1A_HUMAN			6	814	+			247			Protein kinase.		O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	c.739G>A	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	G	36	5.763448	0.96906	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956;ENST00000455387	T;T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92;1.92	5.8	5.8	0.92144	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	0.47911	0.1471	L	0.46741	1.465	0.80722	D	1	D;D;D;D;D	0.89917	0.966;0.966;1.0;1.0;0.966	P;P;D;D;P	0.79784	0.851;0.851;0.993;0.989;0.851	T	0.38373	-0.9664	10	0.87932	D	0	.	20.0404	0.97587	0.0:0.0:1.0:0.0	.	247;247;247;238;247	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	N	247;238;247;247;247;247;19	ENSP00000342690:D247N;ENSP00000340373:D238N;ENSP00000319032:D247N;ENSP00000416089:D247N;ENSP00000381932:D247N;ENSP00000381929:D247N;ENSP00000407854:D19N	ENSP00000319032:D247N	D	+	1	0	DYRK1A	37784421	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	9.688000	0.98670	2.734000	0.93682	0.573000	0.79308	GAC		0.413	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		18	66	0	0	0	0	18	66				
ETS2	2114	broad.mit.edu	37	21	40193623	40193623	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr21:40193623G>A	ENST00000360214.3	+	10	1649	c.1189G>A	c.(1189-1191)Gat>Aat	p.D397N	ETS2_ENST00000360938.3_Missense_Mutation_p.D397N	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	397					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)				CGCCGACCCCGATGAGGTATG	0.507																																						uc002yxg.2		NA																	0				ovary(1)|lung(1)|breast(1)|pancreas(1)	4						c.(1189-1191)GAT>AAT		v-ets erythroblastosis virus E26 oncogene							88.0	88.0	88.0					21																	40193623		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.chr21:40193623G>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.1189G>A	21.37:g.40193623G>A	ENSP00000353344:p.Asp397Asn					ETS2_uc002yxf.2_Missense_Mutation_p.D537N	p.D397N	NM_005239	NP_005230	P15036	ETS2_HUMAN			9	1385	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	397			ETS.		A6NM68|D3DSH6|Q53Y89	Missense_Mutation	SNP	ENST00000360214.3	37	c.1189G>A	CCDS13659.1	.	.	.	.	.	.	.	.	.	.	G	32	5.179475	0.94846	.	.	ENSG00000157557	ENST00000360214;ENST00000360938	T;T	0.14266	2.52;2.52	5.33	5.33	0.75918	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.29158	0.0725	L	0.37697	1.125	0.80722	D	1	D	0.63046	0.992	D	0.65443	0.935	T	0.01133	-1.1441	10	0.87932	D	0	.	19.0079	0.92859	0.0:0.0:1.0:0.0	.	397	P15036	ETS2_HUMAN	N	397	ENSP00000353344:D397N;ENSP00000354194:D397N	ENSP00000353344:D397N	D	+	1	0	ETS2	39115493	1.000000	0.71417	0.519000	0.27824	0.610000	0.37248	9.695000	0.98691	2.652000	0.90054	0.655000	0.94253	GAT		0.507	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1			34	88	0	0	0	0	34	88				
RIPK4	54101	broad.mit.edu	37	21	43165984	43165984	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr21:43165984C>T	ENST00000352483.2	-	7	1079	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N	RIPK4_ENST00000332512.3_Missense_Mutation_p.D291N|RIPK4_ENST00000542057.1_Missense_Mutation_p.D228N|RIPK4_ENST00000544709.1_Missense_Mutation_p.D228N			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	339					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACTTCGTCATCAGGCTTTTCA	0.522																																						uc002yzn.1		NA																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(871-873)GAT>AAT		ankyrin repeat domain 3							168.0	153.0	158.0					21																	43165984		2203	4300	6503	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43165984C>T	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1015G>A	21.37:g.43165984C>T	ENSP00000330161:p.Asp339Asn						p.D291N	NM_020639	NP_065690	P57078	RIPK4_HUMAN			6	919	-			291					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.871G>A		.	.	.	.	.	.	.	.	.	.	C	16.41	3.114945	0.56505	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057;ENST00000330470	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	4.48	4.48	0.54585	.	0.092076	0.45867	D	0.000334	T	0.06188	0.0160	N	0.08118	0	0.36459	D	0.866591	B	0.34329	0.449	B	0.35550	0.205	T	0.43442	-0.9391	10	0.66056	D	0.02	-18.7965	16.5054	0.84271	0.0:1.0:0.0:0.0	.	291	P57078-2	.	N	291;339;228;228;30	ENSP00000332454:D291N;ENSP00000330161:D339N;ENSP00000441754:D228N;ENSP00000442901:D228N	ENSP00000330975:D30N	D	-	1	0	RIPK4	42039053	0.998000	0.40836	0.147000	0.22382	0.415000	0.31203	4.208000	0.58486	2.204000	0.70986	0.655000	0.94253	GAT		0.522	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		31	68	0	0	0	0	31	68				
ITGB2	3689	broad.mit.edu	37	21	46320373	46320373	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr21:46320373G>A	ENST00000397850.2	-	8	1211	c.759C>T	c.(757-759)cgC>cgT	p.R253R	ITGB2_ENST00000397857.1_Silent_p.R253R|ITGB2_ENST00000397854.3_Silent_p.R196R|ITGB2_ENST00000397852.1_Silent_p.R253R|ITGB2_ENST00000302347.5_Silent_p.R253R|ITGB2_ENST00000355153.4_Silent_p.R253R			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	253	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCGTGACGTTGCGCCAGCCGA	0.652																																						uc002zgd.2		NA																	0				ovary(4)|central_nervous_system(3)|breast(2)	9						c.(757-759)CGC>CGT		integrin, beta 2 precursor	Simvastatin(DB00641)						51.0	51.0	51.0					21																	46320373		2203	4300	6503	SO:0001819	synonymous_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46320373G>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.759C>T	21.37:g.46320373G>A						ITGB2_uc002zge.2_Silent_p.R253R|ITGB2_uc002zgf.3_Silent_p.R253R|ITGB2_uc011afl.1_Silent_p.R175R|ITGB2_uc010gpw.2_Silent_p.R196R|ITGB2_uc002zgg.2_Silent_p.R253R	p.R253R	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	6	803	-			253			Extracellular (Potential).|VWFA.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	ENST00000397850.2	37	c.759C>T	CCDS13716.1																																																																																				0.652	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		11	46	0	0	0	0	11	46				
COL6A2	1292	broad.mit.edu	37	21	47536580	47536580	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr21:47536580G>A	ENST00000300527.4	+	9	1047	c.943G>A	c.(943-945)Gac>Aac	p.D315N	COL6A2_ENST00000310645.5_Missense_Mutation_p.D315N|COL6A2_ENST00000397763.1_Missense_Mutation_p.D315N|COL6A2_ENST00000357838.4_Missense_Mutation_p.D315N|COL6A2_ENST00000409416.1_Missense_Mutation_p.D315N	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	315	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ATTTGGAGCCGACGGTCGCAA	0.617																																						uc002zia.1		NA																	0				central_nervous_system(7)|ovary(1)	8						c.(943-945)GAC>AAC		alpha 2 type VI collagen isoform 2C2 precursor							40.0	44.0	43.0					21																	47536580		2202	4300	6502	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47536580G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.943G>A	21.37:g.47536580G>A	ENSP00000300527:p.Asp315Asn					COL6A2_uc002zhy.1_Missense_Mutation_p.D315N|COL6A2_uc002zhz.1_Missense_Mutation_p.D315N|COL6A2_uc002zib.1_Intron	p.D315N	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	9	1025	+	Breast(49;0.245)		315			Triple-helical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.943G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883777	0.51908	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	D;D;D;D;D	0.94232	-3.38;-3.38;-3.2;-3.2;-3.38	4.96	4.96	0.65561	.	0.249868	0.39759	N	0.001277	D	0.94512	0.8233	L	0.39020	1.185	0.24776	N	0.992847	D;D;D	0.76494	0.999;0.999;0.991	D;P;P	0.70716	0.97;0.8;0.766	D	0.88754	0.3252	10	0.32370	T	0.25	-23.7475	18.6106	0.91284	0.0:0.0:1.0:0.0	.	315;315;315	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	N	315	ENSP00000300527:D315N;ENSP00000350497:D315N;ENSP00000312529:D315N;ENSP00000387115:D315N;ENSP00000380870:D315N	ENSP00000300527:D315N	D	+	1	0	COL6A2	46361008	0.970000	0.33590	0.353000	0.25747	0.860000	0.49131	3.203000	0.51075	2.465000	0.83290	0.655000	0.94253	GAC		0.617	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			13	32	0	0	0	0	13	32				
SERPIND1	3053	broad.mit.edu	37	22	21134215	21134215	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr22:21134215G>A	ENST00000215727.5	+	2	898	c.615G>A	c.(613-615)ctG>ctA	p.L205L	PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.L205L|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	205	Glycosaminoglycan-binding site.				blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	TCCGTAAGCTGACTCATCGCC	0.418																																						uc002ztb.1		NA																	0					0						c.(613-615)CTG>CTA		heparin cofactor II precursor	Ardeparin(DB00407)						99.0	97.0	97.0					22																	21134215		2203	4300	6503	SO:0001819	synonymous_variant	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21134215G>A	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.615G>A	22.37:g.21134215G>A						PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Silent_p.L233L	p.L205L	NM_000185	NP_000176	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		2	682	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	205			Glycosaminoglycan-binding site.		B2RAI1|D3DX34|Q6IBZ5	Silent	SNP	ENST00000215727.5	37	c.615G>A	CCDS13783.1																																																																																				0.418	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		17	72	0	0	0	0	17	72				
HIC2	23119	broad.mit.edu	37	22	21800507	21800507	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr22:21800507G>C	ENST00000443632.2	+	2	1695	c.1323G>C	c.(1321-1323)ttG>ttC	p.L441F	HIC2_ENST00000407598.2_Missense_Mutation_p.L441F|HIC2_ENST00000407464.2_Missense_Mutation_p.L441F			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	441					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GGGACAACTTGTATGTGTGCA	0.622																																					NSCLC(23;437 858 2282 27947 40366)	uc002zur.3		NA																	0				skin(1)	1						c.(1321-1323)TTG>TTC		hypermethylated in cancer 2							89.0	79.0	82.0					22																	21800507		2203	4300	6503	SO:0001583	missense	23119				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	g.chr22:21800507G>C	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.1323G>C	22.37:g.21800507G>C	ENSP00000387757:p.Leu441Phe					HIC2_uc002zus.3_Missense_Mutation_p.L441F	p.L441F	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN			3	1553	+	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)	441					Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Missense_Mutation	SNP	ENST00000443632.2	37	c.1323G>C	CCDS13789.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351396	0.41700	.	.	ENSG00000169635	ENST00000407464;ENST00000407598;ENST00000443632	T;T;T	0.13307	2.6;2.6;2.6	4.72	2.53	0.30540	.	0.074508	0.56097	D	0.000033	T	0.16938	0.0407	L	0.61218	1.895	0.37147	D	0.901971	P	0.41366	0.747	P	0.45971	0.499	T	0.06643	-1.0815	10	0.39692	T	0.17	.	5.3252	0.15903	0.0961:0.0:0.5279:0.3761	.	441	Q96JB3	HIC2_HUMAN	F	441	ENSP00000385319:L441F;ENSP00000384889:L441F;ENSP00000387757:L441F	ENSP00000385319:L441F	L	+	3	2	HIC2	20130507	1.000000	0.71417	0.997000	0.53966	0.866000	0.49608	0.988000	0.29616	0.536000	0.28733	0.655000	0.94253	TTG		0.622	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			18	102	0	0	0	0	18	102				
RASL10A	10633	broad.mit.edu	37	22	29706633	29706633	+	IGR	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr22:29706633G>C	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000406549.3_Silent_p.L249L|GAS2L1_ENST00000407854.1_Silent_p.L249L|GAS2L1_ENST00000341313.6_Silent_p.L249L|GAS2L1_ENST00000360113.2_Silent_p.L249L|GAS2L1_ENST00000407647.2_Silent_p.L249L|GAS2L1_ENST00000403764.1_Silent_p.L249L|RASL10A_ENST00000608559.1_5'Flank|GAS2L1_ENST00000471961.1_Silent_p.L249L	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						TGCAGGTGCTGAGGAGCCACG	0.711																																						uc003afa.1		NA																	0					0						c.(745-747)CTG>CTC		growth arrest-specific 2 like 1 isoform a							54.0	52.0	53.0					22																	29706633		2200	4287	6487	SO:0001628	intergenic_variant	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29706633G>C	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29706633G>C						GAS2L1_uc010gvm.1_Silent_p.L249L|GAS2L1_uc003afb.1_Silent_p.L249L|GAS2L1_uc003afc.1_Silent_p.L249L|GAS2L1_uc003afd.1_Silent_p.L249L|GAS2L1_uc003afe.1_Silent_p.L249L	p.L249L	NM_152236	NP_689422	Q99501	GA2L1_HUMAN			4	946	+			249			GAR.		Q49AU5|Q6PI03	Silent	SNP	ENST00000216101.6	37	c.747G>C	CCDS13854.1																																																																																				0.711	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1			4	16	0	0	0	0	4	16				
MORC2	22880	broad.mit.edu	37	22	31333850	31333850	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr22:31333850G>A	ENST00000397641.3	-	14	1729	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*	MORC2_ENST00000469915.1_Intron|MORC2_ENST00000215862.4_Nonsense_Mutation_p.R379*			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	441						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CCCATTGCTCGGAGCAGGTGC	0.567																																						uc003aje.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1135-1137)CGA>TGA		MORC family CW-type zinc finger 2							91.0	85.0	87.0					22																	31333850		2203	4300	6503	SO:0001587	stop_gained	22880						ATP binding|zinc ion binding	g.chr22:31333850G>A	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.1321C>T	22.37:g.31333850G>A	ENSP00000380763:p.Arg441*						p.R379*	NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN			15	2499	-			441					B2RNB1|Q9UF28|Q9Y6V2	Nonsense_Mutation	SNP	ENST00000397641.3	37	c.1135C>T		.	.	.	.	.	.	.	.	.	.	G	48	14.563605	0.99801	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	.	.	.	5.55	0.159	0.14968	.	0.154233	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	15.1871	0.73012	0.0:0.0:0.2517:0.7483	.	.	.	.	X	441;379	.	ENSP00000215862:R379X	R	-	1	2	MORC2	29663850	1.000000	0.71417	0.962000	0.40283	0.867000	0.49689	3.002000	0.49496	0.351000	0.24027	-0.467000	0.05162	CGA		0.567	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		12	63	0	0	0	0	12	63				
LIMK2	3985	broad.mit.edu	37	22	31654293	31654293	+	Missense_Mutation	SNP	G	G	A	rs35923988	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr22:31654293G>A	ENST00000331728.4	+	3	247	c.133G>A	c.(133-135)Gat>Aat	p.D45N	LIMK2_ENST00000333611.4_Missense_Mutation_p.D24N|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000340552.4_Missense_Mutation_p.D24N|LIMK2_ENST00000406516.1_5'UTR	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	45	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.		D -> N (in dbSNP:rs35923988). {ECO:0000269|PubMed:17344846}.		phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AGAATGCCAGGATTCCCTCAC	0.517													G|||	5	0.000998403	0.0	0.0	5008	,	,		19665	0.005		0.0	False		,,,				2504	0.0					uc003akh.2		NA																	0				ovary(2)	2						c.(133-135)GAT>AAT		LIM domain kinase 2 isoform 2a							173.0	162.0	166.0					22																	31654293		2203	4300	6503	SO:0001583	missense	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31654293G>A	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.133G>A	22.37:g.31654293G>A	ENSP00000332687:p.Asp45Asn					LIMK2_uc003akg.2_5'UTR|LIMK2_uc003aki.2_Intron|LIMK2_uc003akj.2_Missense_Mutation_p.D24N|LIMK2_uc003akk.2_Missense_Mutation_p.D24N|LIMK2_uc011aln.1_5'UTR	p.D45N	NM_005569	NP_005560	P53671	LIMK2_HUMAN			3	278	+			45			LIM zinc-binding 1.		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	c.133G>A	CCDS13891.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	16.56	3.157414	0.57259	.	.	ENSG00000182541	ENST00000331728;ENST00000425203;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	5.66	5.66	0.87406	Zinc finger, LIM-type (5);	0.093845	0.64402	D	0.000001	D	0.88206	0.6374	L	0.36672	1.1	0.80722	D	1	B;D;B	0.55385	0.07;0.971;0.086	B;P;B	0.57009	0.088;0.811;0.143	D	0.84569	0.0654	10	0.18276	T	0.48	-6.842	18.7248	0.91710	0.0:0.0:1.0:0.0	rs35923988	77;24;45	F5GY29;Q7L3H5;P53671	.;.;LIMK2_HUMAN	N	45;24;77;24;24	ENSP00000332687:D45N;ENSP00000388422:D24N;ENSP00000330470:D24N;ENSP00000339916:D24N	ENSP00000332687:D45N	D	+	1	0	LIMK2	29984293	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.658000	0.83755	2.667000	0.90743	0.462000	0.41574	GAT		0.517	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		15	64	0	0	0	0	15	64				
LIMK2	3985	broad.mit.edu	37	22	31654368	31654368	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr22:31654368G>A	ENST00000331728.4	+	3	322	c.208G>A	c.(208-210)Gag>Aag	p.E70K	LIMK2_ENST00000333611.4_Missense_Mutation_p.E49K|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000340552.4_Missense_Mutation_p.E49K|LIMK2_ENST00000406516.1_5'UTR	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	70					phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GAAGTTTGGGGAGTTCTGTCA	0.522																																						uc003akh.2		NA																	0				ovary(2)	2						c.(208-210)GAG>AAG		LIM domain kinase 2 isoform 2a							157.0	143.0	148.0					22																	31654368		2203	4300	6503	SO:0001583	missense	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31654368G>A	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.208G>A	22.37:g.31654368G>A	ENSP00000332687:p.Glu70Lys					LIMK2_uc003akg.2_5'UTR|LIMK2_uc003aki.2_Intron|LIMK2_uc003akj.2_Missense_Mutation_p.E49K|LIMK2_uc003akk.2_Missense_Mutation_p.E49K|LIMK2_uc011aln.1_5'UTR	p.E70K	NM_005569	NP_005560	P53671	LIMK2_HUMAN			3	353	+			70					A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	c.208G>A	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	G	36	5.613875	0.96637	.	.	ENSG00000182541	ENST00000331728;ENST00000425203;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16	5.66	5.66	0.87406	Zinc finger, LIM-type (2);	0.000000	0.85682	D	0.000000	D	0.92100	0.7496	L	0.55834	1.745	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.997	D;D;D	0.75020	0.985;0.945;0.967	D	0.92383	0.5915	10	0.72032	D	0.01	-34.6931	18.7248	0.91710	0.0:0.0:1.0:0.0	.	102;49;70	F5GY29;Q7L3H5;P53671	.;.;LIMK2_HUMAN	K	70;49;102;49;49	ENSP00000332687:E70K;ENSP00000388422:E49K;ENSP00000330470:E49K;ENSP00000339916:E49K	ENSP00000332687:E70K	E	+	1	0	LIMK2	29984368	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.476000	0.97823	2.667000	0.90743	0.462000	0.41574	GAG		0.522	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		17	53	0	0	0	0	17	53				
CACNG2	10369	broad.mit.edu	37	22	36960607	36960607	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr22:36960607C>T	ENST00000300105.6	-	4	1744	c.763G>A	c.(763-765)Gtg>Atg	p.V255M	RP5-1119A7.17_ENST00000562756.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	255					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TTGATGCCCACGGGGGAGGCG	0.687																																						uc003aps.1		NA																	0					0						c.(763-765)GTG>ATG		voltage-dependent calcium channel gamma-2							62.0	70.0	67.0					22																	36960607		2203	4300	6503	SO:0001583	missense	10369				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:36960607C>T	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.763G>A	22.37:g.36960607C>T	ENSP00000300105:p.Val255Met						p.V255M	NM_006078	NP_006069	Q9Y698	CCG2_HUMAN			4	1045	-			255					Q2M1M1|Q5TGT3|Q9UGZ7	Missense_Mutation	SNP	ENST00000300105.6	37	c.763G>A	CCDS13931.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214965	0.39102	.	.	ENSG00000166862	ENST00000300105	T	0.39997	1.05	5.81	3.69	0.42338	.	0.121439	0.56097	D	0.000032	T	0.38639	0.1048	L	0.59436	1.845	0.54753	D	0.999982	B	0.06786	0.001	B	0.04013	0.001	T	0.22103	-1.0226	10	0.51188	T	0.08	-0.7726	10.8092	0.46535	0.1315:0.8006:0.0:0.0679	.	255	Q9Y698	CCG2_HUMAN	M	255	ENSP00000300105:V255M	ENSP00000300105:V255M	V	-	1	0	CACNG2	35290553	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.621000	0.61233	0.772000	0.33382	0.655000	0.94253	GTG		0.687	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			32	91	0	0	0	0	32	91				
MLC1	23209	broad.mit.edu	37	22	50500060	50500060	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr22:50500060G>A	ENST00000311597.5	-	12	1692	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000395876.2_Silent_p.F362F|MLC1_ENST00000450140.2_Silent_p.F310F|MLC1_ENST00000535444.1_Silent_p.F283F|MLC1_ENST00000538737.1_Silent_p.F328F|MLC1_ENST00000431262.2_Silent_p.F332F	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	362					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		TCTCCTTGTCGAACTCCTTCA	0.652																																						uc003bjg.1		NA																	0				pancreas(1)	1						c.(1084-1086)TTC>TTT		megalencephalic leukoencephalopathy with							58.0	54.0	56.0					22																	50500060		2203	4300	6503	SO:0001819	synonymous_variant	23209					basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity	g.chr22:50500060G>A	D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.1086C>T	22.37:g.50500060G>A						MLC1_uc011arl.1_Silent_p.F310F|MLC1_uc003bjh.1_Silent_p.F362F|MLC1_uc011arm.1_Silent_p.F332F|MLC1_uc011arn.1_Silent_p.F283F|MLC1_uc011aro.1_Silent_p.F328F	p.F362F	NM_139202	NP_631941	Q15049	MLC1_HUMAN		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)	12	1359	-		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)	362					B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Silent	SNP	ENST00000311597.5	37	c.1086C>T	CCDS14083.1																																																																																				0.652	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2	NM_015166		12	56	0	0	0	0	12	56				
MIOX	55586	broad.mit.edu	37	22	50927676	50927676	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr22:50927676C>T	ENST00000216075.6	+	7	612	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	MIOX_ENST00000395732.3_Nonsense_Mutation_p.Q180*|MIOX_ENST00000395733.3_Silent_p.I190I	NM_017584.5	NP_060054.4	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	180					inositol catabolic process (GO:0019310)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)	aldo-keto reductase (NADP) activity (GO:0004033)|ferric iron binding (GO:0008199)|inositol oxygenase activity (GO:0050113)|NADP binding (GO:0050661)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen (GO:0016701)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|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)		CGGGATGTATCAGCCCCACTG	0.697																																						uc003bll.1		NA																	0					0						c.(538-540)CAG>TAG		myo-inositol oxygenase							36.0	32.0	33.0					22																	50927676		2203	4300	6503	SO:0001587	stop_gained	55586				inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity	g.chr22:50927676C>T	AF197129	CCDS14092.1	22q13.3	2008-06-11	2005-06-15	2005-06-15	ENSG00000100253	ENSG00000100253			14522	protein-coding gene	gene with protein product	"""kidney-specific protein 32"""	606774	"""aldehyde reductase (aldose reductase) like 6"""	ALDRL6		10944187, 11716759	Standard	NM_017584		Approved		uc003bll.1	Q9UGB7	OTTHUMG00000150207	ENST00000216075.6:c.538C>T	22.37:g.50927676C>T	ENSP00000216075:p.Gln180*					MIOX_uc003blm.1_Nonsense_Mutation_p.Q180*|MIOX_uc003bln.1_Silent_p.I190I	p.Q180*	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	7	652	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	180					Q05DJ6|Q5S8C9|Q9BZZ1|Q9UHB8	Nonsense_Mutation	SNP	ENST00000216075.6	37	c.538C>T	CCDS14092.1	.	.	.	.	.	.	.	.	.	.	c	15.53	2.862081	0.51482	.	.	ENSG00000100253	ENST00000216075;ENST00000395732;ENST00000451761	.	.	.	5.14	2.74	0.32292	.	0.632380	0.16319	N	0.219665	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-5.1174	9.1191	0.36775	0.1394:0.5573:0.3034:0.0	.	.	.	.	X	180;180;160	.	ENSP00000216075:Q180X	Q	+	1	0	MIOX	49274542	0.997000	0.39634	0.986000	0.45419	0.159000	0.22180	1.596000	0.36718	1.104000	0.41587	0.556000	0.70494	CAG		0.697	MIOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316835.1	NM_017584		4	17	0	0	0	0	4	17				
LMCD1	29995	broad.mit.edu	37	3	8607273	8607273	+	Silent	SNP	A	A	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:8607273A>C	ENST00000157600.3	+	5	1111	c.879A>C	c.(877-879)gcA>gcC	p.A293A	LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000397386.3_Silent_p.A181A|LMCD1_ENST00000454244.1_Silent_p.A220A	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	293	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AGGATGGTGCACCCTGGTGCG	0.632																																						uc003bqq.2		NA																	0				ovary(1)	1						c.(877-879)GCA>GCC		LIM and cysteine-rich domains 1							25.0	24.0	24.0					3																	8607273		2203	4300	6503	SO:0001819	synonymous_variant	29995				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding	g.chr3:8607273A>C	AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"""dyxin"""	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.879A>C	3.37:g.8607273A>C						LMCD1_uc011atd.1_Silent_p.A220A|LMCD1_uc011ate.1_Silent_p.A181A	p.A293A	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.124)	5	993	+			293			LIM zinc-binding 1.		B4DG80	Silent	SNP	ENST00000157600.3	37	c.879A>C	CCDS33688.1																																																																																				0.632	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1	NM_014583		8	18	0	0	0	0	8	18				
RARB	5915	broad.mit.edu	37	3	25634998	25634998	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:25634998T>G	ENST00000404969.1	+	6	812	c.812T>G	c.(811-813)cTt>cGt	p.L271R	RARB_ENST00000330688.4_Missense_Mutation_p.L264R|RARB_ENST00000458646.1_Missense_Mutation_p.L152R|RARB_ENST00000437042.2_Missense_Mutation_p.L152R|RARB_ENST00000462272.1_Intron			P10826	RARB_HUMAN	retinoic acid receptor, beta	271	Ligand-binding.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TTCCAGATTCTTAGAATTTGC	0.408																																						uc011awl.1		NA																	0				ovary(1)|large_intestine(1)|pancreas(1)	3						c.(811-813)CTT>CGT		retinoic acid receptor, beta isoform 2	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)						111.0	104.0	106.0					3																	25634998		2203	4300	6503	SO:0001583	missense	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25634998T>G	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.812T>G	3.37:g.25634998T>G	ENSP00000385865:p.Leu271Arg					RARB_uc003cdi.1_Missense_Mutation_p.L152R|RARB_uc003cdh.2_Missense_Mutation_p.L264R	p.L271R	NM_016152	NP_057236	P10826	RARB_HUMAN			6	878	+			271			Ligand-binding.		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37	c.812T>G		.	.	.	.	.	.	.	.	.	.	T	26.1	4.708872	0.89018	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	D;D;D;D;D	0.98221	-4.8;-4.8;-4.8;-4.8;-4.8	5.95	5.95	0.96441	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.059359	0.64402	D	0.000002	D	0.99196	0.9721	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.99260	1.0890	10	0.87932	D	0	.	16.4046	0.83654	0.0:0.0:0.0:1.0	.	271;264	P10826;F1D8S6	RARB_HUMAN;.	R	271;271;271;152;264;152	ENSP00000373282:L271R;ENSP00000385865:L271R;ENSP00000398840:L152R;ENSP00000332296:L264R;ENSP00000391391:L152R	ENSP00000332296:L264R	L	+	2	0	RARB	25610002	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.020000	0.88740	2.277000	0.76020	0.533000	0.62120	CTT		0.408	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		14	26	0	0	0	0	14	26				
CMTM8	152189	broad.mit.edu	37	3	32398904	32398904	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:32398904G>C	ENST00000307526.3	+	2	481	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	CMTM8_ENST00000458535.2_Intron	NM_178868.3	NP_849199.2	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing 8	63	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|lung(1)	4						TGCTGGAACTGAGTACTTCCG	0.473																																						uc003cex.2		NA																	0					0						c.(187-189)GAG>CAG		CKLF-like MARVEL transmembrane domain containing							177.0	168.0	171.0					3																	32398904		2203	4300	6503	SO:0001583	missense	152189				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr3:32398904G>C	AF474370	CCDS2652.1	3p22.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000170293	ENSG00000170293			19179	protein-coding gene	gene with protein product		607891	"""chemokine-like factor super family 8"", ""chemokine-like factor superfamily 8"""	CKLFSF8			Standard	NM_178868		Approved		uc003cex.3	Q8IZV2	OTTHUMG00000130753	ENST00000307526.3:c.187G>C	3.37:g.32398904G>C	ENSP00000307741:p.Glu63Gln					CMTM8_uc010hfu.2_Intron	p.E63Q	NM_178868	NP_849199	Q8IZV2	CKLF8_HUMAN			2	481	+			63			MARVEL.		A5D6I7|Q8IW01	Missense_Mutation	SNP	ENST00000307526.3	37	c.187G>C	CCDS2652.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506465	0.64410	.	.	ENSG00000170293	ENST00000307526	T	0.25579	1.79	6.08	6.08	0.98989	Marvel (1);MARVEL-like domain (1);	0.089238	0.48286	D	0.000186	T	0.38506	0.1043	L	0.46741	1.465	0.39215	D	0.963399	P	0.47191	0.891	P	0.54060	0.741	T	0.01879	-1.1255	10	0.13470	T	0.59	-0.6535	20.6721	0.99693	0.0:0.0:1.0:0.0	.	63	Q8IZV2	CKLF8_HUMAN	Q	63	ENSP00000307741:E63Q	ENSP00000307741:E63Q	E	+	1	0	CMTM8	32373908	1.000000	0.71417	0.972000	0.41901	0.394000	0.30568	6.469000	0.73555	2.894000	0.99253	0.591000	0.81541	GAG		0.473	CMTM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253253.1	NM_178868		3	79	0	0	0	0	3	79				
CRTAP	10491	broad.mit.edu	37	3	33171442	33171442	+	Missense_Mutation	SNP	G	G	C	rs137853945		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:33171442G>C	ENST00000320954.6	+	4	904	c.805G>C	c.(805-807)Gaa>Caa	p.E269Q	CRTAP_ENST00000485310.1_3'UTR|CRTAP_ENST00000449224.1_Intron	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	269					chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation to 3-hydroxy-L-proline (GO:0018400)|protein stabilization (GO:0050821)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|macromolecular complex (GO:0032991)|proteinaceous extracellular matrix (GO:0005578)	protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						TCATTATGTAGAAGTTCTGGA	0.373																																						uc003cfl.3		NA																	0					0						c.(805-807)GAA>CAA		cartilage associated protein precursor							132.0	130.0	131.0					3																	33171442		2203	4300	6503	SO:0001583	missense	10491					proteinaceous extracellular matrix	binding	g.chr3:33171442G>C	AJ006470	CCDS2657.1	3p22	2014-09-17			ENSG00000170275	ENSG00000170275			2379	protein-coding gene	gene with protein product	"""leprecan-like 3"""	605497				9217321, 10429950	Standard	NM_006371		Approved	CASP, LEPREL3	uc003cfl.4	O75718	OTTHUMG00000130746	ENST00000320954.6:c.805G>C	3.37:g.33171442G>C	ENSP00000323696:p.Glu269Gln					CRTAP_uc010hfz.2_Intron|CRTAP_uc003cfm.2_Missense_Mutation_p.E90Q|CRTAP_uc003cfn.2_Missense_Mutation_p.E90Q	p.E269Q	NM_006371	NP_006362	O75718	CRTAP_HUMAN			4	925	+			269					B2RBL6	Missense_Mutation	SNP	ENST00000320954.6	37	c.805G>C	CCDS2657.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751683	0.31046	.	.	ENSG00000170275	ENST00000320954;ENST00000539684	T	0.27256	1.68	5.27	5.27	0.74061	.	0.046960	0.85682	D	0.000000	T	0.16599	0.0399	N	0.20328	0.56	0.80722	D	1	P	0.36990	0.577	B	0.34652	0.187	T	0.03463	-1.1034	10	0.06236	T	0.91	-7.4288	19.2375	0.93867	0.0:0.0:1.0:0.0	.	269	O75718	CRTAP_HUMAN	Q	269;256	ENSP00000323696:E269Q	ENSP00000323696:E269Q	E	+	1	0	CRTAP	33146446	1.000000	0.71417	0.982000	0.44146	0.986000	0.74619	7.835000	0.86780	2.623000	0.88846	0.561000	0.74099	GAA		0.373	CRTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253246.3			4	49	0	0	0	0	4	49				
MLH1	4292	broad.mit.edu	37	3	37048481	37048481	+	Splice_Site	SNP	G	G	C	rs267607744		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:37048481G>C	ENST00000231790.2	+	5	596		c.e5-1		MLH1_ENST00000539477.1_Splice_Site|MLH1_ENST00000458205.2_Splice_Site|MLH1_ENST00000536378.1_Splice_Site|MLH1_ENST00000435176.1_Splice_Site|MLH1_ENST00000492474.1_Splice_Site|MLH1_ENST00000455445.2_Splice_Site	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1						ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TTTCTCATTAGAGCAAGTTAC	0.368		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc003cgl.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	D|Mis|N|F|S	E.coli MutL homolog gene			"""E, O"""		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		1	Whole gene deletion(1)	p.0?(1)	ovary(1)	large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77						c.e5-1	MMR	MutL protein homolog 1							64.0	68.0	67.0					3																	37048481		2203	4300	6503	SO:0001630	splice_region_variant	4292	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37048481G>C	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.381-1G>C	3.37:g.37048481G>C						MLH1_uc011aye.1_Splice_Site|MLH1_uc011ayb.1_Splice_Site|MLH1_uc010hge.2_Splice_Site_p.R127_splice|MLH1_uc003cgn.3_Splice_Site|MLH1_uc011ayc.1_Splice_Site_p.R29_splice|MLH1_uc011ayd.1_Splice_Site|MLH1_uc003cgo.2_Splice_Site	p.R127_splice	NM_000249	NP_000240	P40692	MLH1_HUMAN			5	441	+								B4DI13|B4DQ11|E9PCU2	Splice_Site	SNP	ENST00000231790.2	37	c.381_splice	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750448	0.89753	.	.	ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000537937;ENST00000456676;ENST00000435176;ENST00000429117	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3727	0.94495	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLH1	37023485	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	9.080000	0.94040	2.878000	0.98634	0.650000	0.86243	.		0.368	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249	Intron	13	21	0	0	0	0	13	21				
GOLGA4	2803	broad.mit.edu	37	3	37367779	37367779	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:37367779G>C	ENST00000361924.2	+	14	4776	c.4402G>C	c.(4402-4404)Gag>Cag	p.E1468Q	GOLGA4_ENST00000356847.4_Missense_Mutation_p.E1490Q|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1468	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GATCCAGCTTGAGTTAAAATC	0.343																																						uc003cgv.2		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(4402-4404)GAG>CAG		golgi autoantigen, golgin subfamily a, 4							63.0	69.0	67.0					3																	37367779		2202	4300	6502	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37367779G>C	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.4402G>C	3.37:g.37367779G>C	ENSP00000354486:p.Glu1468Gln					GOLGA4_uc010hgr.1_Missense_Mutation_p.E1029Q|GOLGA4_uc003cgw.2_Missense_Mutation_p.E1490Q|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.E1349Q	p.E1468Q	NM_002078	NP_002069	Q13439	GOGA4_HUMAN			14	4706	+			1468			Potential.|Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.4402G>C	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.909939	0.52439	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.30448	1.55;1.53;1.54	5.39	5.39	0.77823	.	0.424979	0.17408	N	0.175295	T	0.47395	0.1443	M	0.63843	1.955	0.31764	N	0.633004	D;D;D;P	0.53885	0.963;0.963;0.963;0.938	P;P;P;P	0.52957	0.714;0.714;0.714;0.522	T	0.52586	-0.8556	10	0.42905	T	0.14	.	19.1895	0.93658	0.0:0.0:1.0:0.0	.	1468;1468;1490;1468	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	Q	1468;1490;1339	ENSP00000354486:E1468Q;ENSP00000349305:E1490Q;ENSP00000405842:E1339Q	ENSP00000349305:E1490Q	E	+	1	0	GOLGA4	37342783	1.000000	0.71417	0.968000	0.41197	0.884000	0.51177	5.225000	0.65294	2.532000	0.85374	0.557000	0.71058	GAG		0.343	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		4	45	0	0	0	0	4	45				
TDGF1	6997	broad.mit.edu	37	3	46620773	46620773	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:46620773G>C	ENST00000296145.5	+	3	873	c.140G>C	c.(139-141)aGa>aCa	p.R47T	TDGF1_ENST00000542931.1_Missense_Mutation_p.R31T|LRRC2_ENST00000296144.3_Intron	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	47					activation of MAPK activity (GO:0000187)|anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle cell differentiation (GO:0055007)|cell differentiation (GO:0030154)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-6 (GO:0071354)|cellular response to tumor necrosis factor (GO:0071356)|embryo development (GO:0009790)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of signal transduction (GO:0009966)|vasculogenesis (GO:0001570)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	growth factor activity (GO:0008083)|receptor binding (GO:0005102)			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CTGGCCTTCAGAGATGACAGC	0.527																																						uc003cpv.2		NA																	0					0						c.(139-141)AGA>ACA		teratocarcinoma-derived growth factor 1							69.0	67.0	68.0					3																	46620773		2203	4300	6503	SO:0001583	missense	6997				activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity	g.chr3:46620773G>C	M96955	CCDS2742.1, CCDS54575.1	3p21.31	2012-10-03			ENSG00000241186	ENSG00000241186			11701	protein-coding gene	gene with protein product		187395				1882841, 10393436	Standard	NM_003212		Approved	CRIPTO, CR, Cripto-1	uc021wxd.1	P13385	OTTHUMG00000133482	ENST00000296145.5:c.140G>C	3.37:g.46620773G>C	ENSP00000296145:p.Arg47Thr					LRRC2_uc003cpu.3_Intron	p.R47T	NM_003212	NP_003203	P13385	TDGF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	3	420	+			47					Q8TCC1	Missense_Mutation	SNP	ENST00000296145.5	37	c.140G>C	CCDS2742.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811747	0.32053	.	.	ENSG00000241186	ENST00000542931;ENST00000296145	T;T	0.65364	-0.13;-0.15	3.8	1.88	0.25563	.	0.464028	0.21868	N	0.067935	T	0.56156	0.1966	M	0.64997	1.995	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.55082	-0.8196	10	0.72032	D	0.01	.	9.8232	0.40896	0.0:0.4102:0.5898:0.0	.	47	P13385	TDGF1_HUMAN	T	31;47	ENSP00000446375:R31T;ENSP00000296145:R47T	ENSP00000296145:R47T	R	+	2	0	AC104304.1	46595777	0.000000	0.05858	0.001000	0.08648	0.094000	0.18550	0.597000	0.24059	0.525000	0.28522	0.655000	0.94253	AGA		0.527	TDGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257378.2	NM_003212		7	33	0	0	0	0	7	33				
MON1A	84315	broad.mit.edu	37	3	49948247	49948247	+	Silent	SNP	C	C	T	rs369861421		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:49948247C>T	ENST00000417270.1	-	5	1401	c.708G>A	c.(706-708)tcG>tcA	p.S236S	MON1A_ENST00000483022.1_5'Flank|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000455683.2_Silent_p.S163S|MON1A_ENST00000296473.3_Silent_p.S325S			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	228										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCTCTTGTGCCGACTGCCGCG	0.582																																						uc003cxz.2		NA																	0				ovary(2)	2						c.(973-975)TCG>TCA		MON1 homolog A isoform a		C	,	0,4406		0,0,2203	32.0	33.0	33.0		489,975	-3.3	1.0	3		33	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MON1A	NM_001142501.1,NM_032355.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	163/491,325/653	49948247	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84315						protein binding	g.chr3:49948247C>T	AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"""MON1 homolog A (yeast)"""			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.708G>A	3.37:g.49948247C>T						MON1A_uc003cya.2_Silent_p.S163S|MON1A_uc003cyb.2_Silent_p.S163S	p.S325S	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	4	1101	-			228					B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Silent	SNP	ENST00000417270.1	37	c.975G>A																																																																																					0.582	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000345538.2	NM_032355		7	19	0	0	0	0	7	19				
CISH	1154	broad.mit.edu	37	3	50645484	50645484	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:50645484G>A	ENST00000348721.3	-	3	511	c.331C>T	c.(331-333)Cac>Tac	p.H111Y	CISH_ENST00000443053.2_Missense_Mutation_p.H128Y	NM_145071.2	NP_659508.1	Q9NSE2	CISH_HUMAN	cytokine inducible SH2-containing protein	111	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of signal transduction (GO:0009968)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TAGCTGGGGTGCGTGCTGTCA	0.567																																						uc003dax.2		NA																	0					0						c.(331-333)CAC>TAC		cytokine-inducible SH2-containing protein							72.0	66.0	68.0					3																	50645484		2203	4300	6503	SO:0001583	missense	1154				intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular		g.chr3:50645484G>A	Z77852	CCDS2831.1, CCDS46834.1	3p21.3	2013-02-14			ENSG00000114737	ENSG00000114737		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	1984	protein-coding gene	gene with protein product		602441				9465889, 7796808	Standard	NM_013324		Approved	CIS, G18, CIS-1, SOCS	uc003dax.3	Q9NSE2	OTTHUMG00000156853	ENST00000348721.3:c.331C>T	3.37:g.50645484G>A	ENSP00000294173:p.His111Tyr					CISH_uc010hlq.2_Missense_Mutation_p.H128Y	p.H111Y	NM_145071	NP_659508	Q9NSE2	CISH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	3	512	-			111			SH2.		B2R9N1|G5E9R1|Q9NS38|Q9Y5R1	Missense_Mutation	SNP	ENST00000348721.3	37	c.331C>T	CCDS2831.1	.	.	.	.	.	.	.	.	.	.	G	33	5.202427	0.94997	.	.	ENSG00000114737	ENST00000443053;ENST00000348721	D;D	0.88509	-2.39;-2.39	5.8	5.8	0.92144	SH2 motif (5);	0.088210	0.85682	D	0.000000	D	0.95484	0.8533	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.95516	0.8590	10	0.72032	D	0.01	-0.0853	19.6724	0.95915	0.0:0.0:1.0:0.0	.	128;111	G5E9R1;Q9NSE2	.;CISH_HUMAN	Y	128;111	ENSP00000409346:H128Y;ENSP00000294173:H111Y	ENSP00000294173:H111Y	H	-	1	0	CISH	50620488	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.894000	0.87336	2.730000	0.93505	0.563000	0.77884	CAC		0.567	CISH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346245.1	NM_145071		14	37	0	0	0	0	14	37				
PHF7	51533	broad.mit.edu	37	3	52454998	52454998	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:52454998G>A	ENST00000327906.3	+	7	1153	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	PHF7_ENST00000347025.2_Missense_Mutation_p.E165K	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	165						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CTTATGTTGTGAAGACTTATC	0.493																																						uc003ddy.2		NA																	0				breast(1)	1						c.(493-495)GAA>AAA		PHD finger protein 7 isoform 1							205.0	186.0	192.0					3																	52454998		2203	4300	6503	SO:0001583	missense	51533					nucleus	zinc ion binding	g.chr3:52454998G>A	AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.493G>A	3.37:g.52454998G>A	ENSP00000333024:p.Glu165Lys					PHF7_uc003ddz.2_Missense_Mutation_p.E165K	p.E165K	NM_016483	NP_057567	Q9BWX1	PHF7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)	7	1299	+			165			RING-type; degenerate.		K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	c.493G>A	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159949	0.78226	.	.	ENSG00000010318	ENST00000478707;ENST00000327906;ENST00000347025;ENST00000394916	D;D;D	0.93133	-2.21;-2.21;-3.17	5.8	5.8	0.92144	Zinc finger, RING-type (2);	0.049531	0.85682	D	0.000000	D	0.96555	0.8876	M	0.82517	2.595	0.39886	D	0.973703	D;D	0.69078	0.997;0.997	D;D	0.73380	0.98;0.98	D	0.96209	0.9151	10	0.39692	T	0.17	-1.1629	15.5574	0.76208	0.0:0.0:1.0:0.0	.	165;165	A8K856;Q9BWX1	.;PHF7_HUMAN	K	165;165;165;73	ENSP00000419316:E165K;ENSP00000333024:E165K;ENSP00000246282:E165K	ENSP00000333024:E165K	E	+	1	0	PHF7	52430038	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	4.484000	0.60271	2.741000	0.93983	0.561000	0.74099	GAA		0.493	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	NM_016483		32	80	0	0	0	0	32	80				
OR5H6	79295	broad.mit.edu	37	3	97983934	97983934	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:97983934G>A	ENST00000383696.2	+	1	847	c.806G>A	c.(805-807)gGc>gAc	p.G269D	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTATACTATGGCCCCCTCACC	0.398																																						uc003dsi.1		NA																	0				skin(2)|large_intestine(1)	3						c.(805-807)GGC>GAC		olfactory receptor, family 5, subfamily H,							57.0	55.0	56.0					3																	97983934		2203	4299	6502	SO:0001583	missense	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983934G>A	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.806G>A	3.37:g.97983934G>A	ENSP00000373196:p.Gly269Asp						p.G269D	NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN			1	806	+			269			Helical; Name=6; (Potential).		Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	c.806G>A	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	13.64	2.296806	0.40594	.	.	ENSG00000230301	ENST00000383696	T	0.39229	1.09	2.19	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.502847	0.16957	N	0.192641	T	0.72495	0.3467	H	0.96861	3.895	0.23731	N	0.996996	D	0.76494	0.999	D	0.76071	0.987	T	0.63585	-0.6604	10	0.87932	D	0	.	10.0598	0.42268	0.0:0.0:1.0:0.0	.	269	Q8NGV6	OR5H6_HUMAN	D	269	ENSP00000373196:G269D	ENSP00000373196:G269D	G	+	2	0	OR5H6	99466624	0.023000	0.18921	0.703000	0.30354	0.043000	0.13939	1.133000	0.31430	1.220000	0.43490	0.194000	0.17425	GGC		0.398	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			13	49	0	0	0	0	13	49				
ZBTB11	27107	broad.mit.edu	37	3	101373663	101373663	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:101373663C>A	ENST00000312938.4	-	8	2774	c.2194G>T	c.(2194-2196)Gag>Tag	p.E732*		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	732					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)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TACTTGGACTCTCCTATTAGA	0.423																																						uc003dve.3		NA																	0				skin(1)	1						c.(2194-2196)GAG>TAG		zinc finger protein ZNF-U69274							74.0	74.0	74.0					3																	101373663		2203	4300	6503	SO:0001587	stop_gained	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101373663C>A	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2194G>T	3.37:g.101373663C>A	ENSP00000326200:p.Glu732*						p.E732*	NM_014415	NP_055230	O95625	ZBT11_HUMAN			8	2424	-			732					Q2NKP9	Nonsense_Mutation	SNP	ENST00000312938.4	37	c.2194G>T	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	C	45	11.419826	0.99558	.	.	ENSG00000066422	ENST00000312938	.	.	.	5.79	5.79	0.91817	.	0.049919	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.9747	20.0299	0.97533	0.0:1.0:0.0:0.0	.	.	.	.	X	732	.	ENSP00000326200:E732X	E	-	1	0	ZBTB11	102856353	1.000000	0.71417	0.994000	0.49952	0.965000	0.64279	5.615000	0.67702	2.748000	0.94277	0.655000	0.94253	GAG		0.423	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		5	54	1	0	0.000602214	0.000775454	5	54				
ATP1B3	483	broad.mit.edu	37	3	141622545	141622545	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:141622545C>G	ENST00000286371.3	+	2	381	c.193C>G	c.(193-195)Ctc>Gtc	p.L65V	ATP1B3_ENST00000462082.1_Silent_p.L18L|RNU6-509P_ENST00000363519.1_RNA|ATP1B3_ENST00000539728.1_Missense_Mutation_p.L51V	NM_001679.2	NP_001670.1	P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	65					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	caveola (GO:0005901)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)			cervix(1)|endometrium(1)|lung(2)	4						GCTTCAGACTCTCAACGATGA	0.373																																						uc003eug.1		NA																	0					0						c.(193-195)CTC>GTC		Na+/K+ -ATPase beta 3 subunit							146.0	136.0	140.0					3																	141622545		2203	4300	6503	SO:0001583	missense	483				ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity	g.chr3:141622545C>G	BC011835	CCDS3121.1	3q23	2012-10-22			ENSG00000069849	ENSG00000069849		"""CD molecules"", ""ATPases / P-type"""	806	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-3"", ""sodium pump subunit beta-3"", ""sodium-potassium ATPase subunit beta 3 (non-catalytic)"""	601867				8798450, 9457675	Standard	NM_001679		Approved	FLJ29027, CD298	uc003eug.1	P54709	OTTHUMG00000159081	ENST00000286371.3:c.193C>G	3.37:g.141622545C>G	ENSP00000286371:p.Leu65Val					ATP1B3_uc011bne.1_RNA|ATP1B3_uc003euh.1_Missense_Mutation_p.L51V	p.L65V	NM_001679	NP_001670	P54709	AT1B3_HUMAN			2	367	+			65			Extracellular (Potential).		B7Z1N7	Missense_Mutation	SNP	ENST00000286371.3	37	c.193C>G	CCDS3121.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.752301	0.49362	.	.	ENSG00000069849	ENST00000475483;ENST00000286371;ENST00000539728;ENST00000495216	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.43	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.58264	0.2110	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.58216	-0.7675	10	0.23891	T	0.37	-11.8398	11.767	0.51937	0.0:0.857:0.0:0.143	.	51;65	D3DNF9;P54709	.;AT1B3_HUMAN	V	8;65;51;51	ENSP00000417522:L8V;ENSP00000286371:L65V;ENSP00000440307:L51V;ENSP00000419962:L51V	ENSP00000286371:L65V	L	+	1	0	ATP1B3	143105235	0.988000	0.35896	1.000000	0.80357	0.773000	0.43773	2.778000	0.47726	1.425000	0.47237	0.555000	0.69702	CTC		0.373	ATP1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353218.1	NM_001679		12	110	0	0	0	0	12	110				
HPS3	84343	broad.mit.edu	37	3	148858878	148858878	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:148858878G>T	ENST00000296051.2	+	3	927	c.787G>T	c.(787-789)Gaa>Taa	p.E263*	HPS3_ENST00000460120.1_Nonsense_Mutation_p.E98*	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	263					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ACTTCTTGGTGAAAAAAGTGA	0.383									Hermansky-Pudlak syndrome																													uc003ewu.1		NA																	0				ovary(5)|large_intestine(1)	6						c.(787-789)GAA>TAA		Hermansky-Pudlak syndrome 3 protein							81.0	88.0	86.0					3																	148858878		2203	4300	6503	SO:0001587	stop_gained	84343	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148858878G>T	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.787G>T	3.37:g.148858878G>T	ENSP00000296051:p.Glu263*					HPS3_uc003ewt.1_Nonsense_Mutation_p.E263*|HPS3_uc011bnq.1_Nonsense_Mutation_p.E98*	p.E263*	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		3	927	+			263					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Nonsense_Mutation	SNP	ENST00000296051.2	37	c.787G>T	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	G	37	6.579808	0.97680	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	.	.	.	5.68	3.88	0.44766	.	0.561703	0.20231	N	0.096478	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-7.32	11.468	0.50249	0.0679:0.1262:0.8059:0.0	.	.	.	.	X	263;98	.	ENSP00000296051:E263X	E	+	1	0	HPS3	150341568	1.000000	0.71417	0.984000	0.44739	0.988000	0.76386	2.743000	0.47442	0.747000	0.32809	-0.262000	0.10625	GAA		0.383	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		13	73	1	0	2.27e-07	3.03e-07	13	73				
IGSF10	285313	broad.mit.edu	37	3	151154852	151154852	+	Silent	SNP	A	A	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:151154852A>G	ENST00000282466.3	-	6	7496	c.7497T>C	c.(7495-7497)taT>taC	p.Y2499Y	MED12L_ENST00000474524.1_3'UTR|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	2499	Ig-like C2-type 11.				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)			TTCCTCTGTCATAAGCTGTTG	0.393																																						uc011bod.1		NA																	0				skin(7)|ovary(5)|central_nervous_system(1)	13						c.(7495-7497)TAT>TAC		immunoglobulin superfamily, member 10 precursor							160.0	155.0	157.0					3																	151154852		2203	4300	6503	SO:0001819	synonymous_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151154852A>G	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.7497T>C	3.37:g.151154852A>G						IGSF10_uc011bob.1_Silent_p.Y526Y|IGSF10_uc011boc.1_Silent_p.Y478Y	p.Y2499Y	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		6	7497	-			2499			Ig-like C2-type 11.		Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	c.7497T>C	CCDS3160.1																																																																																				0.393	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		8	167	0	0	0	0	8	167				
LEKR1	389170	broad.mit.edu	37	3	156763471	156763471	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:156763471G>T	ENST00000470811.1	+	14	2434	c.1099G>T	c.(1099-1101)Gca>Tca	p.A367S	LEKR1_ENST00000356539.4_Missense_Mutation_p.A671S			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	367										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CAGGGGTGGAGCATCTTCAGC	0.547																																						uc003fba.1		NA																	0					0						c.(1099-1101)GCA>TCA		leucine, glutamate and lysine rich 1							79.0	86.0	84.0					3																	156763471		2203	4300	6503	SO:0001583	missense	389170							g.chr3:156763471G>T	AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.1099G>T	3.37:g.156763471G>T	ENSP00000418214:p.Ala367Ser						p.A367S	NM_001004316	NP_001004316	Q6ZMV7	LEKR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		14	2434	+			Error:Variant_position_missing_in_D3DNK7_after_alignment						Missense_Mutation	SNP	ENST00000470811.1	37	c.1099G>T		.	.	.	.	.	.	.	.	.	.	G	13.85	2.359450	0.41801	.	.	ENSG00000178110	ENST00000470811;ENST00000356539	T;T	0.52983	0.66;0.64	5.06	-4.63	0.03359	.	0.705583	0.12814	N	0.436954	T	0.24586	0.0596	L	0.33485	1.01	0.09310	N	1	B	0.20261	0.043	B	0.20955	0.032	T	0.23261	-1.0193	10	0.20046	T	0.44	-0.0069	0.5411	0.00645	0.3111:0.1934:0.2979:0.1975	.	367	Q6ZMV7	LEKR1_HUMAN	S	367;671	ENSP00000418214:A367S;ENSP00000348936:A671S	ENSP00000348936:A671S	A	+	1	0	LEKR1	158246165	0.000000	0.05858	0.000000	0.03702	0.608000	0.37181	-0.421000	0.07053	-1.663000	0.01481	-0.165000	0.13383	GCA		0.547	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000351625.3	NM_001004316		19	110	1	0	5.26e-13	7.17e-13	19	110				
VEPH1	79674	broad.mit.edu	37	3	157146231	157146231	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:157146231C>T	ENST00000362010.2	-	5	883	c.576G>A	c.(574-576)caG>caA	p.Q192Q	VEPH1_ENST00000392833.2_Silent_p.Q192Q|VEPH1_ENST00000543418.1_Silent_p.Q192Q|VEPH1_ENST00000469007.1_5'Flank|VEPH1_ENST00000392832.2_Silent_p.Q192Q	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	192						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTGGCTGAGGCTGCTTTTCAT	0.458																																						uc003fbj.1		NA																	0				breast(3)|ovary(1)|lung(1)	5						c.(574-576)CAG>CAA		ventricular zone expressed PH domain homolog 1							168.0	151.0	157.0					3																	157146231		2203	4300	6503	SO:0001819	synonymous_variant	79674					plasma membrane		g.chr3:157146231C>T	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.576G>A	3.37:g.157146231C>T						VEPH1_uc003fbk.1_Silent_p.Q192Q|VEPH1_uc010hvu.1_Silent_p.Q192Q	p.Q192Q	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		5	893	-			192					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Silent	SNP	ENST00000362010.2	37	c.576G>A	CCDS3179.1																																																																																				0.458	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		19	59	0	0	0	0	19	59				
SLITRK3	22865	broad.mit.edu	37	3	164908029	164908029	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:164908029G>C	ENST00000475390.1	-	2	1033	c.590C>G	c.(589-591)tCt>tGt	p.S197C	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S197C			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	197					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ATGGGTTAAAGAGACAGCCTT	0.413										HNSCC(40;0.11)																												uc003fej.3		NA																	0				ovary(6)|skin(3)|pancreas(1)	10						c.(589-591)TCT>TGT		slit and trk like 3 protein precursor							68.0	70.0	70.0					3																	164908029		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164908029G>C	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.590C>G	3.37:g.164908029G>C	ENSP00000420091:p.Ser197Cys	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.S197C	p.S197C	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	1034	-			197			Extracellular (Potential).|LRR 6.		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.590C>G	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700895	0.68501	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.57107	0.42;0.42	5.99	5.99	0.97316	.	0.000000	0.37393	N	0.002104	T	0.70245	0.3202	L	0.50333	1.59	0.58432	D	0.999995	D	0.76494	0.999	D	0.85130	0.997	T	0.68985	-0.5265	10	0.62326	D	0.03	-16.7685	20.4756	0.99175	0.0:0.0:1.0:0.0	.	197	O94933	SLIK3_HUMAN	C	197	ENSP00000420091:S197C;ENSP00000241274:S197C	ENSP00000241274:S197C	S	-	2	0	SLITRK3	166390723	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.847000	0.97988	0.655000	0.94253	TCT		0.413	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		13	68	0	0	0	0	13	68				
EIF2B5	8893	broad.mit.edu	37	3	183861986	183861986	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:183861986G>A	ENST00000273783.3	+	14	2091	c.1969G>A	c.(1969-1971)Gaa>Aaa	p.E657K	EIF2B5_ENST00000444495.1_Missense_Mutation_p.E657K	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	657	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CCTAGAGCATGAAGCTCTTGG	0.502																																						uc003fmp.2		NA																	0				ovary(5)	5						c.(1969-1971)GAA>AAA		eukaryotic translation initiation factor 2B,							147.0	143.0	144.0					3																	183861986		2203	4300	6503	SO:0001583	missense	8893				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	g.chr3:183861986G>A	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.1969G>A	3.37:g.183861986G>A	ENSP00000273783:p.Glu657Lys					EIF2B5_uc003fmq.2_Missense_Mutation_p.E378K|EIF2B5_uc003fmr.2_Missense_Mutation_p.E65K	p.E657K	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		14	2333	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		657			W2.		Q541Z1|Q96D04	Missense_Mutation	SNP	ENST00000273783.3	37	c.1969G>A	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	g	11.16	1.556208	0.27827	.	.	ENSG00000145191	ENST00000273783;ENST00000444495	D;D	0.81579	-1.51;-1.51	5.83	5.83	0.93111	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.140214	0.64402	D	0.000005	T	0.79534	0.4462	L	0.55103	1.725	0.80722	D	1	P;P	0.37370	0.592;0.532	B;B	0.40134	0.32;0.169	T	0.74598	-0.3612	10	0.13853	T	0.58	.	20.1218	0.97964	0.0:0.0:1.0:0.0	.	657;657	E9PC74;Q13144	.;EI2BE_HUMAN	K	657	ENSP00000273783:E657K;ENSP00000409142:E657K	ENSP00000273783:E657K	E	+	1	0	EIF2B5	185344680	1.000000	0.71417	0.997000	0.53966	0.039000	0.13416	7.263000	0.78421	2.763000	0.94921	0.561000	0.74099	GAA		0.502	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			30	171	0	0	0	0	30	171				
FAM131A	131408	broad.mit.edu	37	3	184060556	184060556	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:184060556C>T	ENST00000310585.4	+	2	1804	c.440C>T	c.(439-441)gCg>gTg	p.A147V	FAM131A_ENST00000453072.1_Missense_Mutation_p.A93V|FAM131A_ENST00000340957.5_Missense_Mutation_p.A93V|FAM131A_ENST00000418281.1_Missense_Mutation_p.A55V|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000450976.1_Missense_Mutation_p.A93V|FAM131A_ENST00000383847.2_Missense_Mutation_p.A178V			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	147						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTTGCCATCGCGGAAGCCAAG	0.557																																						uc003fog.2		NA																	0				breast(1)	1						c.(439-441)GCG>GTG		hypothetical protein LOC131408 precursor							71.0	60.0	64.0					3																	184060556		2203	4300	6503	SO:0001583	missense	131408					extracellular region		g.chr3:184060556C>T	BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 40"""	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206	ENST00000310585.4:c.440C>T	3.37:g.184060556C>T	ENSP00000310135:p.Ala147Val					FAM131A_uc003fob.1_Missense_Mutation_p.A55V|FAM131A_uc003foc.2_Missense_Mutation_p.A93V|FAM131A_uc003foe.2_Missense_Mutation_p.A93V	p.A147V	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		2	1804	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		147					D3DNT6|G5E9B1|Q8TA84	Missense_Mutation	SNP	ENST00000310585.4	37	c.440C>T		.	.	.	.	.	.	.	.	.	.	c	35	5.559506	0.96514	.	.	ENSG00000175182	ENST00000450976;ENST00000418281;ENST00000340957;ENST00000433578;ENST00000418768;ENST00000383847;ENST00000453072;ENST00000310585	T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.63	5.63	0.86233	.	0.115251	0.56097	D	0.000022	T	0.56001	0.1956	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.945;0.997	T	0.56202	-0.8018	10	0.72032	D	0.01	-24.5409	19.2806	0.94051	0.0:1.0:0.0:0.0	.	147;178;55	Q6UXB0;G5E9B1;C9JPT9	F131A_HUMAN;.;.	V	93;55;93;93;93;178;93;147	ENSP00000388551:A93V;ENSP00000414050:A55V;ENSP00000340974:A93V;ENSP00000399875:A93V;ENSP00000414913:A93V;ENSP00000373360:A178V;ENSP00000390588:A93V;ENSP00000310135:A147V	ENSP00000310135:A147V	A	+	2	0	FAM131A	185543250	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.401000	0.79962	2.637000	0.89404	0.561000	0.74099	GCG		0.557	FAM131A-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000343462.1	NM_144635		12	40	0	0	0	0	12	40				
LPP	4026	broad.mit.edu	37	3	188327198	188327198	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:188327198T>G	ENST00000312675.4	+	6	925	c.679T>G	c.(679-681)Tca>Gca	p.S227A	LPP_ENST00000471917.1_3'UTR|LPP_ENST00000543006.1_Missense_Mutation_p.S227A|LPP_ENST00000448637.1_Missense_Mutation_p.S227A	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	227	Pro-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GCAGGTGAAGTCAGCCCAGCC	0.562			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	uc003frs.1		NA		Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	HMGA2|MLL|C12orf9		lipoma|leukemia	HMGA2/LPP(161)	0				soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165						c.(679-681)TCA>GCA		LIM domain containing preferred translocation							66.0	66.0	66.0					3																	188327198		2203	4300	6503	SO:0001583	missense	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188327198T>G	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.679T>G	3.37:g.188327198T>G	ENSP00000318089:p.Ser227Ala					LPP_uc011bsg.1_Intron|LPP_uc011bsi.1_Missense_Mutation_p.S227A|LPP_uc003frt.2_Missense_Mutation_p.S227A|LPP_uc011bsj.1_Missense_Mutation_p.S64A	p.S227A	NM_005578	NP_005569	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	6	925	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	227			Pro-rich.		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	c.679T>G	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.329636	0.60743	.	.	ENSG00000145012	ENST00000448637;ENST00000312675;ENST00000543006;ENST00000415906	T;T;T;T	0.57273	1.81;0.41;0.41;1.37	5.53	5.53	0.82687	.	0.124261	0.56097	D	0.000028	T	0.34978	0.0916	N	0.19112	0.55	0.36763	D	0.883394	B;B	0.32526	0.374;0.031	B;B	0.33960	0.173;0.01	T	0.37663	-0.9696	10	0.12766	T	0.61	.	10.7788	0.46365	0.1503:0.0:0.0:0.8497	.	227;227	C9JUT4;Q93052	.;LPP_HUMAN	A	227;227;227;64	ENSP00000393602:S227A;ENSP00000318089:S227A;ENSP00000438891:S227A;ENSP00000393008:S64A	ENSP00000318089:S227A	S	+	1	0	LPP	189809892	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.440000	0.44855	2.240000	0.73641	0.528000	0.53228	TCA		0.562	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		11	92	0	0	0	0	11	92				
CPN2	1370	broad.mit.edu	37	3	194063020	194063020	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr3:194063020C>G	ENST00000323830.3	-	2	501	c.412G>C	c.(412-414)Gag>Cag	p.E138Q	CPN2_ENST00000429275.1_Missense_Mutation_p.E138Q	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	138					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AAAAGACCCTCGGGCAGAGCC	0.607																																						uc003fts.2		NA																	0				ovary(5)	5						c.(412-414)GAG>CAG		carboxypeptidase N, polypeptide 2							56.0	53.0	54.0					3																	194063020		2203	4300	6503	SO:0001583	missense	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194063020C>G	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.412G>C	3.37:g.194063020C>G	ENSP00000319464:p.Glu138Gln						p.E138Q	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	2	502	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		138			LRR 2.		B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	ENST00000323830.3	37	c.412G>C	CCDS33920.1	.	.	.	.	.	.	.	.	.	.	C	6.831	0.522530	0.13066	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.26067	1.76;1.76	5.19	5.19	0.71726	.	0.198217	0.25109	N	0.033063	T	0.26810	0.0656	M	0.62266	1.93	0.09310	N	1	D	0.55385	0.971	B	0.43783	0.431	T	0.24154	-1.0168	10	0.20519	T	0.43	.	10.8113	0.46549	0.1357:0.7156:0.1487:0.0	.	138	P22792	CPN2_HUMAN	Q	138	ENSP00000319464:E138Q;ENSP00000402232:E138Q	ENSP00000319464:E138Q	E	-	1	0	CPN2	195544715	0.000000	0.05858	0.667000	0.29798	0.164000	0.22412	0.792000	0.26929	2.590000	0.87494	0.561000	0.74099	GAG		0.607	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		5	89	0	0	0	0	5	89				
SLIT2	9353	broad.mit.edu	37	4	20530585	20530585	+	Silent	SNP	T	T	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:20530585T>C	ENST00000504154.1	+	16	1728	c.1476T>C	c.(1474-1476)taT>taC	p.Y492Y	SLIT2_ENST00000503823.1_Silent_p.Y484Y|SLIT2_ENST00000273739.5_Silent_p.Y496Y|SLIT2_ENST00000503837.1_Silent_p.Y488Y|MIR218-1_ENST00000384999.1_RNA	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	492					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CAGAAGATTATCGATCAAAAT	0.353																																						uc003gpr.1		NA																	0				central_nervous_system(4)|skin(4)|ovary(3)	11						c.(1474-1476)TAT>TAC		slit homolog 2 precursor							94.0	99.0	97.0					4																	20530585		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20530585T>C	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1476T>C	4.37:g.20530585T>C						SLIT2_uc003gps.1_Silent_p.Y484Y	p.Y492Y	NM_004787	NP_004778	O94813	SLIT2_HUMAN			16	1680	+			492					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.1476T>C	CCDS3426.1																																																																																				0.353	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			13	51	0	0	0	0	13	51				
SEL1L3	23231	broad.mit.edu	37	4	25792177	25792177	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:25792177C>G	ENST00000399878.3	-	12	2098	c.1976G>C	c.(1975-1977)aGa>aCa	p.R659T	SEL1L3_ENST00000502949.1_Missense_Mutation_p.R506T|SEL1L3_ENST00000264868.5_Missense_Mutation_p.R624T	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	659						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATCTTTTAGTCTAATTGTTTC	0.443																																						uc003gru.3		NA																	0					0						c.(1975-1977)AGA>ACA		sel-1 suppressor of lin-12-like 3							158.0	148.0	151.0					4																	25792177		1881	4107	5988	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25792177C>G	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1976G>C	4.37:g.25792177C>G	ENSP00000382767:p.Arg659Thr					SEL1L3_uc003grv.2_Missense_Mutation_p.R66T	p.R659T	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN			12	2128	-			659					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.1976G>C	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455238	0.43634	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.19806	2.33;2.33;2.12	5.44	4.59	0.56863	.	0.106697	0.64402	D	0.000008	T	0.21962	0.0529	L	0.39898	1.24	0.34586	D	0.715032	B;P	0.43938	0.079;0.822	B;B	0.41466	0.021;0.358	T	0.33394	-0.9870	10	0.72032	D	0.01	-16.4501	15.5215	0.75869	0.1394:0.8606:0.0:0.0	.	66;659	B4DTH5;Q68CR1	.;SE1L3_HUMAN	T	659;624;506	ENSP00000382767:R659T;ENSP00000264868:R624T;ENSP00000425438:R506T	ENSP00000264868:R624T	R	-	2	0	SEL1L3	25401275	1.000000	0.71417	0.925000	0.36789	0.381000	0.30169	3.193000	0.50997	1.285000	0.44548	-0.321000	0.08615	AGA		0.443	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		13	41	0	0	0	0	13	41				
LRRC66	339977	broad.mit.edu	37	4	52861239	52861239	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:52861239G>A	ENST00000343457.3	-	4	1955	c.1949C>T	c.(1948-1950)tCa>tTa	p.S650L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	650						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						GTAGTGGGCTGAAAGCGCTTC	0.532																																						uc003gzi.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1948-1950)TCA>TTA		leucine rich repeat containing 66							78.0	77.0	77.0					4																	52861239		2014	4176	6190	SO:0001583	missense	339977					integral to membrane		g.chr4:52861239G>A	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.1949C>T	4.37:g.52861239G>A	ENSP00000341944:p.Ser650Leu						p.S650L	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	1962	-			650						Missense_Mutation	SNP	ENST00000343457.3	37	c.1949C>T	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	9.093	1.002210	0.19121	.	.	ENSG00000188993	ENST00000343457	T	0.33865	1.39	3.83	2.1	0.27182	.	1.436050	0.04422	N	0.367703	T	0.23649	0.0572	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20605	-1.0270	10	0.42905	T	0.14	2.3561	6.2094	0.20621	0.3162:0.0:0.6838:0.0	.	650	Q68CR7	LRC66_HUMAN	L	650	ENSP00000341944:S650L	ENSP00000341944:S650L	S	-	2	0	LRRC66	52555996	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	1.370000	0.34238	0.592000	0.29728	-0.216000	0.12614	TCA		0.532	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		16	40	0	0	0	0	16	40				
CLOCK	9575	broad.mit.edu	37	4	56301653	56301653	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:56301653G>A	ENST00000309964.4	-	22	2720	c.2470C>T	c.(2470-2472)Cag>Tag	p.Q824*	CLOCK_ENST00000513440.1_Nonsense_Mutation_p.Q824*|CLOCK_ENST00000381322.1_Nonsense_Mutation_p.Q824*	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	824	Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.|Poly-Gln.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II 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)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TGCTGTTGCTGAGACTGATGT	0.527																																						uc003haz.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(2470-2472)CAG>TAG		clock							272.0	228.0	243.0					4																	56301653		2203	4300	6503	SO:0001587	stop_gained	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56301653G>A	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2470C>T	4.37:g.56301653G>A	ENSP00000308741:p.Gln824*					CLOCK_uc003hba.1_Nonsense_Mutation_p.Q824*|CLOCK_uc010igu.1_RNA	p.Q824*	NM_004898	NP_004889	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		24	3396	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		824			Poly-Gln.		A0AV01|A2I2N9|O14516|Q9UIT8	Nonsense_Mutation	SNP	ENST00000309964.4	37	c.2470C>T	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	G	43	10.136754	0.99344	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	.	.	.	5.25	5.25	0.73442	.	0.681444	0.15471	N	0.260587	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	17.7608	0.88464	0.0:0.0:1.0:0.0	.	.	.	.	X	824	.	ENSP00000308741:Q824X	Q	-	1	0	CLOCK	55996410	1.000000	0.71417	0.999000	0.59377	0.857000	0.48899	7.568000	0.82369	2.724000	0.93272	0.655000	0.94253	CAG		0.527	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		25	56	0	0	0	0	25	56				
TECRL	253017	broad.mit.edu	37	4	65274945	65274945	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:65274945G>A	ENST00000381210.3	-	1	235	c.125C>T	c.(124-126)tCa>tTa	p.S42L	TECRL_ENST00000507440.1_Missense_Mutation_p.S42L	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	42					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AGGGCCCGCTGAGAGTACAAG	0.393																																						uc003hcv.2		NA																	0					0						c.(124-126)TCA>TTA		steroid 5 alpha-reductase 2-like 2							86.0	87.0	87.0					4																	65274945		2203	4300	6503	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65274945G>A	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.125C>T	4.37:g.65274945G>A	ENSP00000370607:p.Ser42Leu					TECRL_uc003hcw.2_Missense_Mutation_p.S42L	p.S42L	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN			1	234	-			42						Missense_Mutation	SNP	ENST00000381210.3	37	c.125C>T	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	G	9.587	1.125023	0.20959	.	.	ENSG00000205678	ENST00000507440;ENST00000381210;ENST00000509536	T;T;T	0.48201	0.82;0.82;0.82	4.99	4.13	0.48395	.	0.320485	0.26820	N	0.022336	T	0.46852	0.1414	M	0.65975	2.015	0.27427	N	0.954121	B;B	0.30068	0.16;0.267	B;B	0.33690	0.168;0.039	T	0.51411	-0.8709	10	0.66056	D	0.02	-18.895	10.1082	0.42546	0.0943:0.0:0.9057:0.0	.	42;42	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	L	42	ENSP00000426043:S42L;ENSP00000370607:S42L;ENSP00000422497:S42L	ENSP00000370607:S42L	S	-	2	0	TECRL	64957540	1.000000	0.71417	0.820000	0.32676	0.019000	0.09904	3.485000	0.53208	2.471000	0.83476	0.655000	0.94253	TCA		0.393	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		8	28	0	0	0	0	8	28				
CCSER1	401145	broad.mit.edu	37	4	91230678	91230678	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:91230678G>C	ENST00000509176.1	+	2	1531	c.1243G>C	c.(1243-1245)Gat>Cat	p.D415H	CCSER1_ENST00000333691.8_Missense_Mutation_p.D415H|CCSER1_ENST00000432775.2_Missense_Mutation_p.D415H	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	415																	TCCTATTTCAGATTCAAAGAT	0.363																																						uc003hsv.3		NA																	0				large_intestine(1)|ovary(1)	2						c.(1243-1245)GAT>CAT		KIAA1680 protein isoform 1							94.0	92.0	92.0					4																	91230678		1849	4088	5937	SO:0001583	missense	401145							g.chr4:91230678G>C		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1243G>C	4.37:g.91230678G>C	ENSP00000425040:p.Asp415His					FAM190A_uc003hsu.3_Missense_Mutation_p.D415H|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.D415H	p.D415H	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN			2	1583	+			415					Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.1243G>C	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511321	0.64522	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.47869	1.37;0.83;1.37	4.96	4.96	0.65561	.	0.307986	0.32301	N	0.006289	T	0.61236	0.2331	L	0.40543	1.245	0.39345	D	0.965659	D;D;D	0.76494	0.999;0.999;0.999	P;D;D	0.66979	0.906;0.925;0.948	T	0.65492	-0.6155	10	0.87932	D	0	-24.1516	19.1082	0.93305	0.0:0.0:1.0:0.0	.	415;415;415	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	H	415	ENSP00000425040:D415H;ENSP00000389283:D415H;ENSP00000329482:D415H	ENSP00000329482:D415H	D	+	1	0	FAM190A	91449701	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.774000	0.62339	2.682000	0.91365	0.585000	0.79938	GAT		0.363	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		22	34	0	0	0	0	22	34				
SMARCAD1	56916	broad.mit.edu	37	4	95155231	95155231	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:95155231G>C	ENST00000354268.4	+	4	568	c.495G>C	c.(493-495)ttG>ttC	p.L165F	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.L165F			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	165	CUE 1. {ECO:0000255|PROSITE- ProRule:PRU00468}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ttcagactttgaaggaacttt	0.373																																						uc003htc.3		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(493-495)TTG>TTC		SWI/SNF-related, matrix-associated							49.0	46.0	47.0					4																	95155231		2203	4300	6503	SO:0001583	missense	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95155231G>C	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.495G>C	4.37:g.95155231G>C	ENSP00000346217:p.Leu165Phe					SMARCAD1_uc003htb.3_Missense_Mutation_p.L165F|SMARCAD1_uc003htd.3_Missense_Mutation_p.L165F|SMARCAD1_uc010ila.2_Missense_Mutation_p.L28F	p.L165F	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	4	750	+			165			CUE 1.		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.495G>C	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942202	0.73672	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000536267;ENST00000354268	T;T;T	0.15487	2.42;2.42;2.42	5.81	5.81	0.92471	Ubiquitin system component Cue (1);	0.529014	0.14055	N	0.344475	T	0.20129	0.0484	L	0.29908	0.895	0.80722	D	1	P;P	0.39250	0.535;0.665	B;B	0.44224	0.259;0.444	T	0.01657	-1.1302	10	0.45353	T	0.12	0.0242	15.5785	0.76414	0.0:0.0:1.0:0.0	.	165;165	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	F	165	ENSP00000351947:L165F;ENSP00000415576:L165F;ENSP00000346217:L165F	ENSP00000346217:L165F	L	+	3	2	SMARCAD1	95374254	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.715000	0.61909	2.736000	0.93811	0.655000	0.94253	TTG		0.373	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		8	18	0	0	0	0	8	18				
ANK2	287	broad.mit.edu	37	4	114195732	114195732	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:114195732C>T	ENST00000357077.4	+	15	1663	c.1610C>T	c.(1609-1611)tCt>tTt	p.S537F	ANK2_ENST00000506722.1_Missense_Mutation_p.S516F|ANK2_ENST00000264366.6_Missense_Mutation_p.S537F|ANK2_ENST00000394537.3_Missense_Mutation_p.S537F	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	537					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)		CTGCACATCTCTGCCCGGGAG	0.532																																						uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(1609-1611)TCT>TTT		ankyrin 2 isoform 1							98.0	95.0	96.0					4																	114195732		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.chr4:114195732C>T	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.1610C>T	4.37:g.114195732C>T	ENSP00000349588:p.Ser537Phe					ANK2_uc003ibd.3_Missense_Mutation_p.S516F|ANK2_uc003ibf.3_Missense_Mutation_p.S537F|ANK2_uc003ibc.2_Missense_Mutation_p.S513F|ANK2_uc011cgb.1_Missense_Mutation_p.S552F	p.S537F	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	15	1710	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	537			ANK 16.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.1610C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	32	5.130067	0.94473	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.65178	-0.12;-0.14;-0.12;-0.14;-0.12;-0.12;-0.12	5.62	5.62	0.85841	Ankyrin repeat-containing domain (3);	0.000000	0.50627	D	0.000112	T	0.79930	0.4531	M	0.72479	2.2	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.998;0.973;0.997	D;D;D;P;D	0.85130	0.992;0.956;0.964;0.847;0.997	T	0.81232	-0.1026	10	0.87932	D	0	.	19.6591	0.95857	0.0:1.0:0.0:0.0	.	537;537;537;516;516	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	F	516;516;516;552;537;537;537;516	ENSP00000423799:S516F;ENSP00000421011:S516F;ENSP00000421067:S516F;ENSP00000424722:S552F;ENSP00000378044:S537F;ENSP00000349588:S537F;ENSP00000264366:S537F	ENSP00000264366:S537F	S	+	2	0	ANK2	114415181	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.760000	0.85248	2.631000	0.89168	0.650000	0.86243	TCT		0.532	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		22	36	0	0	0	0	22	36				
ANKRD50	57182	broad.mit.edu	37	4	125590572	125590572	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:125590572T>C	ENST00000504087.1	-	4	4897	c.3860A>G	c.(3859-3861)aAa>aGa	p.K1287R	ANKRD50_ENST00000515641.1_Missense_Mutation_p.K1108R	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1287	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ATTACTTTGTTTCGCTTTTTT	0.418																																						uc003ifg.3		NA																	0				central_nervous_system(1)	1						c.(3859-3861)AAA>AGA		ankyrin repeat domain 50							134.0	144.0	141.0					4																	125590572		2202	4300	6502	SO:0001583	missense	57182							g.chr4:125590572T>C	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3860A>G	4.37:g.125590572T>C	ENSP00000425658:p.Lys1287Arg					ANKRD50_uc011cgo.1_Missense_Mutation_p.K1108R|ANKRD50_uc010inw.2_Missense_Mutation_p.K1287R	p.K1287R	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN			3	4126	-			1287			Ser-rich.		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.3860A>G	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	T	12.12	1.843143	0.32606	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.67523	-0.27;-0.23	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.48003	0.1476	N	0.24115	0.695	0.43218	D	0.995092	P	0.43826	0.818	B	0.35240	0.198	T	0.47898	-0.9081	10	0.16420	T	0.52	.	14.8538	0.70319	0.0:0.0:0.0:1.0	.	1287	Q9ULJ7	ANR50_HUMAN	R	1287;1108	ENSP00000425658:K1287R;ENSP00000425355:K1108R	ENSP00000425658:K1287R	K	-	2	0	ANKRD50	125810022	1.000000	0.71417	0.037000	0.18230	0.171000	0.22731	5.609000	0.67661	2.101000	0.63845	0.459000	0.35465	AAA		0.418	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		4	126	0	0	0	0	4	126				
WDR17	116966	broad.mit.edu	37	4	177041161	177041161	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:177041161G>T	ENST00000280190.4	+	5	679	c.523G>T	c.(523-525)Gat>Tat	p.D175Y	WDR17_ENST00000393643.2_Missense_Mutation_p.D151Y|WDR17_ENST00000508596.1_Missense_Mutation_p.D151Y|WDR17_ENST00000507824.2_Missense_Mutation_p.D175Y			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	175										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTTCTTGTCTGATATCTGTAT	0.408																																						uc003iuj.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(523-525)GAT>TAT		WD repeat domain 17 isoform 1							195.0	182.0	187.0					4																	177041161		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177041161G>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.523G>T	4.37:g.177041161G>T	ENSP00000280190:p.Asp175Tyr					WDR17_uc003iuk.2_Missense_Mutation_p.D151Y|WDR17_uc003ium.3_Missense_Mutation_p.D151Y|WDR17_uc003iul.1_Intron	p.D175Y	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	5	679	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	175			WD 3.		E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.523G>T	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164366	0.57476	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.65364	-0.15;-0.15;-0.15	5.44	5.44	0.79542	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78013	0.4217	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72711	-0.4211	10	0.12766	T	0.61	-23.3392	19.2456	0.93901	0.0:0.0:1.0:0.0	.	151;175	E7EQX0;Q8IZU2	.;WDR17_HUMAN	Y	151;151;175;175	ENSP00000422763:D151Y;ENSP00000377258:D151Y;ENSP00000280190:D175Y	ENSP00000280190:D175Y	D	+	1	0	WDR17	177278155	1.000000	0.71417	0.998000	0.56505	0.111000	0.19643	9.185000	0.94900	2.531000	0.85337	0.655000	0.94253	GAT		0.408	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			32	87	1	0	1.89e-17	2.6e-17	32	87				
PLEKHG4B	153478	broad.mit.edu	37	5	171516	171516	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:171516A>G	ENST00000283426.6	+	14	2989	c.2939A>G	c.(2938-2940)cAc>cGc	p.H980R		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	980	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CAGCTGCGTCACGGCAATGAC	0.667																																						uc003jak.2		NA																	0				skin(2)	2						c.(2938-2940)CAC>CGC		pleckstrin homology domain containing, family G							26.0	28.0	27.0					5																	171516		2203	4298	6501	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:171516A>G	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2939A>G	5.37:g.171516A>G	ENSP00000283426:p.His980Arg						p.H980R	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	14	2989	+			980			DH.			Missense_Mutation	SNP	ENST00000283426.6	37	c.2939A>G	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.275368	0.23307	.	.	ENSG00000153404	ENST00000283426	T	0.28666	1.6	2.79	1.58	0.23477	Dbl homology (DH) domain (4);	.	.	.	.	T	0.20901	0.0503	L	0.49513	1.565	0.34998	D	0.755679	B	0.31859	0.343	B	0.33620	0.167	T	0.29336	-1.0015	9	0.02654	T	1	.	6.043	0.19744	0.8588:0.0:0.1412:0.0	.	980	Q96PX9	PKH4B_HUMAN	R	980	ENSP00000283426:H980R	ENSP00000283426:H980R	H	+	2	0	PLEKHG4B	224516	1.000000	0.71417	0.994000	0.49952	0.675000	0.39556	5.794000	0.69067	0.028000	0.15324	-0.736000	0.03550	CAC		0.667	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		4	30	0	0	0	0	4	30				
ZDHHC11	79844	broad.mit.edu	37	5	801245	801245	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:801245C>T	ENST00000283441.8	-	12	1599	c.1216G>A	c.(1216-1218)Gac>Aac	p.D406N	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Missense_Mutation_p.D406N	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	406						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			TCAGCACTGTCAGTTTTCATG	0.398																																						uc011cma.1		NA																	0				skin(1)|pancreas(1)	2						c.(1216-1218)GAC>AAC		zinc finger, DHHC-type containing 11							162.0	118.0	133.0					5																	801245		2202	4295	6497	SO:0001583	missense	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:801245C>T	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.1216G>A	5.37:g.801245C>T	ENSP00000283441:p.Asp406Asn					ZDHHC11_uc010itc.2_RNA|ZDHHC11_uc003jbj.2_RNA	p.D406N	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		12	1600	-			406					Q6UWR9	Missense_Mutation	SNP	ENST00000283441.8	37	c.1216G>A	CCDS3857.1	.	.	.	.	.	.	.	.	.	.	N	12.49	1.952169	0.34471	.	.	ENSG00000188818	ENST00000424784;ENST00000283441	T;T	0.48836	0.8;0.8	1.57	-0.344	0.12628	.	.	.	.	.	T	0.22360	0.0539	N	0.08118	0	0.09310	N	1	B	0.19817	0.039	B	0.09377	0.004	T	0.13980	-1.0489	9	0.41790	T	0.15	-20.5727	3.9682	0.09441	0.0:0.5607:0.0:0.4393	.	406	Q9H8X9	ZDH11_HUMAN	N	406	ENSP00000397719:D406N;ENSP00000283441:D406N	ENSP00000283441:D406N	D	-	1	0	ZDHHC11	854245	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.301000	0.19174	-0.115000	0.11915	0.384000	0.25694	GAC		0.398	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		11	104	0	0	0	0	11	104				
NSUN2	54888	broad.mit.edu	37	5	6605463	6605463	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:6605463C>T	ENST00000264670.6	-	15	1971	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	NSUN2_ENST00000539938.1_Missense_Mutation_p.E318K|NSUN2_ENST00000506139.1_Missense_Mutation_p.E519K	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	554					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						TTCTTCCCTTCTGTAGTCCGA	0.423																																						uc003jdu.2		NA																	0				ovary(1)	1						c.(1660-1662)GAA>AAA		NOL1/NOP2/Sun domain family, member 2							172.0	173.0	173.0					5																	6605463		2203	4300	6503	SO:0001583	missense	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6605463C>T	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.1660G>A	5.37:g.6605463C>T	ENSP00000264670:p.Glu554Lys					NSUN2_uc003jds.2_5'Flank|NSUN2_uc003jdt.2_Missense_Mutation_p.E318K|NSUN2_uc011cmk.1_Missense_Mutation_p.E519K|NSUN2_uc003jdv.2_Missense_Mutation_p.E318K	p.E554K	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN			15	1725	-			554					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	c.1660G>A	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935412	0.92458	.	.	ENSG00000037474	ENST00000264670;ENST00000539938;ENST00000506139	T;T;T	0.66099	-0.19;-0.19;-0.19	5.36	5.36	0.76844	.	0.043428	0.85682	D	0.000000	T	0.72503	0.3468	M	0.87180	2.865	0.80722	D	1	P;P	0.50617	0.937;0.82	B;P	0.47626	0.4;0.552	T	0.72243	-0.4350	10	0.15499	T	0.54	-41.1872	19.445	0.94843	0.0:1.0:0.0:0.0	.	519;554	B4DQW2;Q08J23	.;NSUN2_HUMAN	K	554;318;519	ENSP00000264670:E554K;ENSP00000444338:E318K;ENSP00000420957:E519K	ENSP00000264670:E554K	E	-	1	0	NSUN2	6658463	1.000000	0.71417	0.843000	0.33291	0.509000	0.34042	6.960000	0.76036	2.667000	0.90743	0.563000	0.77884	GAA		0.423	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		22	155	0	0	0	0	22	155				
DNAH5	1767	broad.mit.edu	37	5	13871062	13871062	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:13871062G>A	ENST00000265104.4	-	24	3752	c.3648C>T	c.(3646-3648)gtC>gtT	p.V1216V	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1216	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGCGTCCAATGACAACCATCC	0.388									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(3646-3648)GTC>GTT		dynein, axonemal, heavy chain 5							97.0	98.0	97.0					5																	13871062		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13871062G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3648C>T	5.37:g.13871062G>A							p.V1216V	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			24	3690	-	Lung NSC(4;0.00476)		1216			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.3648C>T	CCDS3882.1																																																																																				0.388	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		14	68	0	0	0	0	14	68				
TRIO	7204	broad.mit.edu	37	5	14291310	14291310	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:14291310G>A	ENST00000344204.4	+	5	1050	c.1026G>A	c.(1024-1026)ctG>ctA	p.L342L	TRIO_ENST00000537187.1_Silent_p.L342L|TRIO_ENST00000509967.2_Silent_p.L293L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	342					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCTTCCAGCTGAGGCTGTTTG	0.587																																						uc003jff.2		NA																	0				skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(1024-1026)CTG>CTA		triple functional domain (PTPRF interacting)							41.0	40.0	40.0					5																	14291310		2202	4299	6501	SO:0001819	synonymous_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14291310G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.1026G>A	5.37:g.14291310G>A						TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.L293L|TRIO_uc003jfh.1_5'Flank	p.L342L	NM_007118	NP_009049	O75962	TRIO_HUMAN			5	1032	+	Lung NSC(4;0.000742)		342			Spectrin 1.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.1026G>A	CCDS3883.1																																																																																				0.587	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		18	56	0	0	0	0	18	56				
C1QTNF3	114899	broad.mit.edu	37	5	34033476	34033476	+	Missense_Mutation	SNP	C	C	G	rs201831968		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:34033476C>G	ENST00000231338.7	-	3	371	c.284G>C	c.(283-285)cGa>cCa	p.R95P	C1QTNF3_ENST00000513065.1_5'Flank|C1QTNF3_ENST00000382065.3_Missense_Mutation_p.R168P|RP11-1084J3.4_ENST00000382079.3_Missense_Mutation_p.R79P	NM_030945.3	NP_112207.1	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	95	Collagen-like.				cellular triglyceride homeostasis (GO:0035356)|fat cell differentiation (GO:0045444)|negative regulation of gene expression (GO:0010629)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of cytokine secretion (GO:0050715)|protein trimerization (GO:0070206)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					CCGCTCCCCTCGAGGCCCCAG	0.562																																						uc003jin.2		NA																	0					0						c.(283-285)CGA>CCA		C1q and tumor necrosis factor related protein 3							125.0	123.0	123.0					5																	34033476		2203	4300	6503	SO:0001583	missense	114899					collagen		g.chr5:34033476C>G	AF329837	CCDS3904.1, CCDS34141.1	5p13	2009-05-20			ENSG00000082196	ENSG00000082196			14326	protein-coding gene	gene with protein product	"""cartonectin"""	612045				18421280	Standard	NM_030945		Approved	CTRP3, Cors, Corcs, 2310005P21Rik, Cors-26	uc003jio.3	Q9BXJ4	OTTHUMG00000090735	ENST00000231338.7:c.284G>C	5.37:g.34033476C>G	ENSP00000231338:p.Arg95Pro					C1QTNF3_uc003jio.2_Missense_Mutation_p.R168P	p.R95P	NM_030945	NP_112207	Q9BXJ4	C1QT3_HUMAN			3	371	-	all_lung(31;0.0207)		95			Collagen-like.		Q0VAN4|Q542Y2|Q6MZN1|Q96KY1	Missense_Mutation	SNP	ENST00000231338.7	37	c.284G>C	CCDS3904.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.730817	0.69074	.	.	ENSG00000082196	ENST00000382065;ENST00000231338	T;T	0.68181	-0.31;-0.31	5.53	5.53	0.82687	.	.	.	.	.	T	0.60157	0.2247	N	0.01515	-0.825	0.54753	D	0.999988	D;B	0.76494	0.999;0.116	D;B	0.85130	0.997;0.046	T	0.65442	-0.6167	9	0.14656	T	0.56	.	19.8372	0.96661	0.0:1.0:0.0:0.0	.	168;95	Q0VAN4;Q9BXJ4	.;C1QT3_HUMAN	P	168;95	ENSP00000371497:R168P;ENSP00000231338:R95P	ENSP00000231338:R95P	R	-	2	0	C1QTNF3	34069233	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.809000	0.55606	2.770000	0.95276	0.655000	0.94253	CGA		0.562	C1QTNF3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207469.1	NM_030945		21	64	0	0	0	0	21	64				
PIK3R1	5295	broad.mit.edu	37	5	67576368	67576368	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:67576368C>G	ENST00000521381.1	+	6	1263	c.647C>G	c.(646-648)tCc>tGc	p.S216C	PIK3R1_ENST00000274335.5_Missense_Mutation_p.S216C|PIK3R1_ENST00000521657.1_Missense_Mutation_p.S216C|PIK3R1_ENST00000396611.1_Missense_Mutation_p.S216C	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	216	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|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 cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GTACAAAGCTCCGAAGAATAT	0.343			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.2		NA		Rec	yes		5	5q13.1	5295	Mis|F|O	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			gliobastoma|ovarian|colorectal		2	Whole gene deletion(1)|Unknown(1)	p.?(1)	large_intestine(1)|lung(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101						c.(646-648)TCC>TGC		phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)						103.0	118.0	113.0					5																	67576368		2203	4300	6503	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67576368C>G	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.647C>G	5.37:g.67576368C>G	ENSP00000428056:p.Ser216Cys	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvb.2_Missense_Mutation_p.S216C	p.S216C	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	6	1207	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	216			Rho-GAP.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.647C>G	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502306	0.64298	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000520675	T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13	5.61	5.61	0.85477	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.501630	0.23805	N	0.044384	T	0.29976	0.0750	L	0.60455	1.87	0.45272	D	0.998273	B	0.21309	0.054	B	0.29598	0.104	T	0.05666	-1.0871	10	0.62326	D	0.03	0.0012	19.6344	0.95724	0.0:1.0:0.0:0.0	.	216	P27986	P85A_HUMAN	C	216;216;216;216;118	ENSP00000428056:S216C;ENSP00000429277:S216C;ENSP00000379855:S216C;ENSP00000274335:S216C;ENSP00000428566:S118C	ENSP00000274335:S216C	S	+	2	0	PIK3R1	67612124	0.957000	0.32711	0.847000	0.33407	0.910000	0.53928	7.294000	0.78760	2.643000	0.89663	0.462000	0.41574	TCC		0.343	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		26	130	0	0	0	0	26	130				
PTCD2	79810	broad.mit.edu	37	5	71654230	71654230	+	Silent	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:71654230C>G	ENST00000380639.5	+	10	1159	c.1143C>G	c.(1141-1143)ctC>ctG	p.L381L	PTCD2_ENST00000503868.1_Silent_p.L272L|PTCD2_ENST00000460837.2_3'UTR|CTC-365E16.1_ENST00000606310.1_lincRNA|PTCD2_ENST00000536805.1_Silent_p.L209L	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	381					kidney development (GO:0001822)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|muscle fiber development (GO:0048747)|regulation of mRNA processing (GO:0050684)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		TCCAGCCACTCAGCCAGTCCC	0.517																																						uc003kcb.2		NA																	0					0						c.(1141-1143)CTC>CTG		pentatricopeptide repeat domain 2							38.0	36.0	37.0					5																	71654230		2203	4300	6503	SO:0001819	synonymous_variant	79810							g.chr5:71654230C>G	BC018720	CCDS4014.2, CCDS68891.1, CCDS68892.1, CCDS75258.1	5q13.2	2008-02-05			ENSG00000049883	ENSG00000049883			25734	protein-coding gene	gene with protein product		615484				12477932	Standard	XM_005248601		Approved	FLJ12598	uc003kcb.3	Q8WV60	OTTHUMG00000100953	ENST00000380639.5:c.1143C>G	5.37:g.71654230C>G						PTCD2_uc011csf.1_Silent_p.L191L|PTCD2_uc003kcc.2_Silent_p.L229L|PTCD2_uc011csg.1_Silent_p.L209L|PTCD2_uc011csh.1_Silent_p.L272L|PTCD2_uc003kcd.2_RNA	p.L381L	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)	10	1153	+		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	381					B7Z5D0|B7Z8L7|E9PFV7|Q6IA65|Q9H9R0	Silent	SNP	ENST00000380639.5	37	c.1143C>G	CCDS4014.2																																																																																				0.517	PTCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218562.6	NM_024754		5	15	0	0	0	0	5	15				
THBS4	7060	broad.mit.edu	37	5	79355723	79355723	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:79355723G>A	ENST00000350881.2	+	7	1172	c.982G>A	c.(982-984)Gat>Aat	p.D328N	THBS4_ENST00000511733.1_Missense_Mutation_p.D237N|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	328	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)		TATTGATGTTGATGAGGTAAA	0.507																																						uc003kgh.2		NA																	0					0						c.(982-984)GAT>AAT		thrombospondin 4 precursor							111.0	109.0	110.0					5																	79355723		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.chr5:79355723G>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.982G>A	5.37:g.79355723G>A	ENSP00000339730:p.Asp328Asn						p.D328N	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)	8	1305	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	328			EGF-like 2; calcium-binding (Potential).		B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	c.982G>A	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678563	0.47886	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.94280	-3.39;-3.39	5.81	5.81	0.92471	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.097624	0.64402	D	0.000001	D	0.93249	0.7849	N	0.13272	0.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91115	0.4925	10	0.19147	T	0.46	-23.1243	20.0784	0.97758	0.0:0.0:1.0:0.0	.	328	P35443	TSP4_HUMAN	N	328;237	ENSP00000339730:D328N;ENSP00000422298:D237N	ENSP00000339730:D328N	D	+	1	0	THBS4	79391479	1.000000	0.71417	0.963000	0.40424	0.242000	0.25591	5.948000	0.70249	2.736000	0.93811	0.655000	0.94253	GAT		0.507	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			41	102	0	0	0	0	41	102				
ERAP1	51752	broad.mit.edu	37	5	96130758	96130758	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:96130758G>A	ENST00000443439.2	-	5	972	c.906C>T	c.(904-906)ccC>ccT	p.P302P	ERAP1_ENST00000296754.3_Silent_p.P302P	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	302					angiogenesis (GO:0001525)|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)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		GTTTGGGTAGGGGATACGGTA	0.388																																						uc003kmm.2		NA																	0				ovary(1)|pancreas(1)	2						c.(904-906)CCC>CCT		type 1 tumor necrosis factor receptor shedding							79.0	74.0	76.0					5																	96130758		2203	4300	6503	SO:0001819	synonymous_variant	51752				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding	g.chr5:96130758G>A	AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"""aminopeptidase regulator of TNFR1 shedding"", ""adipocyte-derived leucine aminopeptidase"", ""puromycin-insensitive leucyl-specific aminopeptidase"""	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.906C>T	5.37:g.96130758G>A						ERAP1_uc003kml.2_Silent_p.P302P|ERAP1_uc010jbm.1_Silent_p.P114P|ERAP1_uc003kmn.2_Silent_p.P302P	p.P302P	NM_001040458	NP_001035548	Q9NZ08	ERAP1_HUMAN		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)	5	1253	-		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)	302			Lumenal (Potential).		O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Silent	SNP	ENST00000443439.2	37	c.906C>T	CCDS47250.1																																																																																				0.388	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442		4	21	0	0	0	0	4	21				
P4HA2	8974	broad.mit.edu	37	5	131530707	131530707	+	Silent	SNP	A	A	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:131530707A>C	ENST00000401867.1	-	15	2017	c.1449T>G	c.(1447-1449)gcT>gcG	p.A483A	P4HA2-AS1_ENST00000417667.1_RNA|P4HA2_ENST00000166534.4_Silent_p.A483A|P4HA2_ENST00000379100.2_Silent_p.A481A|P4HA2_ENST00000379104.2_Silent_p.A483A|P4HA2_ENST00000379086.1_Silent_p.A481A|P4HA2_ENST00000360568.3_Silent_p.A481A			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	483	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	ACCAGAACACAGCTGTACCCT	0.542																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	uc003kwh.2		NA																	0					0						c.(1447-1449)GCT>GCG		prolyl 4-hydroxylase, alpha II subunit isoform 1	L-Proline(DB00172)|Succinic acid(DB00139)						136.0	111.0	119.0					5																	131530707		2203	4300	6503	SO:0001819	synonymous_variant	8974					endoplasmic reticulum lumen	electron carrier activity|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-proline 4-dioxygenase activity|protein binding	g.chr5:131530707A>C	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.1449T>G	5.37:g.131530707A>C						P4HA2_uc003kwg.2_Silent_p.A481A|P4HA2_uc003kwi.2_Silent_p.A481A|P4HA2_uc003kwk.2_Silent_p.A481A|P4HA2_uc003kwl.2_Silent_p.A483A|P4HA2_uc003kwj.2_Silent_p.A481A	p.A483A	NM_004199	NP_004190	O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		14	2013	-		all_cancers(142;0.103)|Breast(839;0.198)	483			Fe2OG dioxygenase.		D3DQ85|D3DQ86|Q8WWN0	Silent	SNP	ENST00000401867.1	37	c.1449T>G	CCDS4151.1																																																																																				0.542	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		19	52	0	0	0	0	19	52				
FAM53C	51307	broad.mit.edu	37	5	137680625	137680625	+	Missense_Mutation	SNP	G	G	A	rs146380618	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:137680625G>A	ENST00000239906.5	+	4	676	c.248G>A	c.(247-249)cGg>cAg	p.R83Q	FAM53C_ENST00000507506.1_3'UTR|RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000434981.2_Missense_Mutation_p.R83Q|FAM53C_ENST00000513056.1_Intron	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	83										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCACCCAGTCGGGGAAACTCC	0.622																																						uc003lcv.2		NA																	0				ovary(1)	1						c.(247-249)CGG>CAG		hypothetical protein LOC51307		G	GLN/ARG,GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	85.0	80.0	82.0		248,248	3.0	1.0	5	dbSNP_134	82	0,8600		0,0,4300	yes	missense,missense	FAM53C	NM_001135647.1,NM_016605.2	43,43	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging,probably-damaging	83/393,83/393	137680625	4,13002	2203	4300	6503	SO:0001583	missense	51307							g.chr5:137680625G>A	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.248G>A	5.37:g.137680625G>A	ENSP00000239906:p.Arg83Gln					FAM53C_uc003lcw.2_Missense_Mutation_p.R83Q|FAM53C_uc011cyq.1_Intron|FAM53C_uc011cyr.1_Intron	p.R83Q	NM_001135647	NP_001129119	Q9NYF3	FA53C_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		4	718	+			83					B2RDJ5|D3DQB9	Missense_Mutation	SNP	ENST00000239906.5	37	c.248G>A	CCDS4204.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580970	0.46006	9.08E-4	0.0	ENSG00000120709	ENST00000434981;ENST00000239906;ENST00000511276	T;T;T	0.42900	0.96;0.96;0.96	5.72	2.98	0.34508	.	0.360784	0.27886	N	0.017458	T	0.27419	0.0673	L	0.44542	1.39	0.80722	D	1	P	0.52170	0.951	B	0.38378	0.272	T	0.12967	-1.0527	10	0.07813	T	0.8	-2.4133	10.6838	0.45830	0.0731:0.4176:0.5093:0.0	.	83	Q9NYF3	FA53C_HUMAN	Q	83;83;73	ENSP00000403705:R83Q;ENSP00000239906:R83Q;ENSP00000427610:R73Q	ENSP00000239906:R83Q	R	+	2	0	FAM53C	137708524	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	0.807000	0.27140	0.343000	0.23821	0.655000	0.94253	CGG		0.622	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605		24	90	0	0	0	0	24	90				
PCDHA6	56142	broad.mit.edu	37	5	140209601	140209601	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:140209601C>G	ENST00000529310.1	+	1	2039	c.1925C>G	c.(1924-1926)tCt>tGt	p.S642C	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	642	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCGGACTCTCCGCGCCAC	0.672																																						uc003lho.2		NA																	0				haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(1924-1926)TCT>TGT		protocadherin alpha 6 isoform 1 precursor							53.0	61.0	58.0					5																	140209601		2203	4299	6502	SO:0001583	missense	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140209601C>G	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1925C>G	5.37:g.140209601C>G	ENSP00000433378:p.Ser642Cys					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_uc011dab.1_Missense_Mutation_p.S642C	p.S642C	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1952	+			642			Cadherin 6.|Extracellular (Potential).		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.1925C>G	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	2.418	-0.333680	0.05278	.	.	ENSG00000081842	ENST00000529310	T	0.53206	0.63	3.98	0.94	0.19513	Cadherin (4);Cadherin-like (1);	0.496290	0.14270	U	0.330185	T	0.36276	0.0961	L	0.43598	1.365	0.09310	N	0.999999	B;B	0.23650	0.02;0.089	B;B	0.24974	0.012;0.057	T	0.35968	-0.9767	10	0.87932	D	0	.	5.6528	0.17627	0.0:0.4239:0.3581:0.218	.	642;642	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	C	642	ENSP00000433378:S642C	ENSP00000433378:S642C	S	+	2	0	PCDHA6	140189785	0.000000	0.05858	0.009000	0.14445	0.029000	0.11900	-1.722000	0.01868	0.459000	0.27016	0.306000	0.20318	TCT		0.672	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		25	60	0	0	0	0	25	60				
PCDHB16	57717	broad.mit.edu	37	5	140568326	140568326	+	IGR	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:140568326G>C	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						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)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACAGACAGAGACTCAGGCAC	0.652																																						uc003liw.1		NA																	0					0						c.(1435-1437)GAC>CAC		protocadherin beta 9 precursor							87.0	103.0	97.0					5																	140568326		2203	4296	6499	SO:0001628	intergenic_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140568326G>C	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140568326G>C							p.D479H	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		3	1435	+			479			Extracellular (Potential).|Cadherin 5.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1435G>C	CCDS4251.1																																																																																				0.652	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		33	236	0	0	0	0	33	236				
Unknown	0	broad.mit.edu	37	5	140568883	140568883	+	IGR	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr5:140568883C>T								PCDHB16 (3090 upstream) : PCDHB10 (3058 downstream)																							TCCTGGTGGACGGCTTCTCCC	0.701																																						uc003liw.1		NA																	0					0						c.(1990-1992)GAC>GAT		protocadherin beta 9 precursor							30.0	33.0	32.0					5																	140568883		1729	3507	5236	SO:0001628	intergenic_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140568883C>T																													5.37:g.140568883C>T							p.D664D	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		3	1992	+			664			Extracellular (Potential).|Cadherin 6.			Silent	SNP		37	c.1992C>T																																																																																				0	0.701									6	117	0	0	0	0	6	117				
GFOD1	54438	broad.mit.edu	37	6	13487002	13487002	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:13487002C>A	ENST00000379287.3	-	1	785	c.121G>T	c.(121-123)Gag>Tag	p.E41*	GFOD1_ENST00000603223.1_Nonsense_Mutation_p.E41*|GFOD1-AS1_ENST00000446001.1_RNA|GFOD1_ENST00000379278.3_5'Flank|AL583828.1_ENST00000558378.1_5'Flank	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	41						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TTGGCCAGCTCCTCCGCTTCT	0.627																																						uc003nat.1		NA																	0				ovary(2)	2						c.(121-123)GAG>TAG		glucose-fructose oxidoreductase domain							153.0	124.0	134.0					6																	13487002		2203	4300	6503	SO:0001587	stop_gained	54438					extracellular region	binding|oxidoreductase activity	g.chr6:13487002C>A	AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 114"""	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.121G>T	6.37:g.13487002C>A	ENSP00000368589:p.Glu41*					GFOD1_uc003nas.1_5'Flank|C6orf114_uc003nav.2_5'Flank	p.E41*	NM_018988	NP_061861	Q9NXC2	GFOD1_HUMAN	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)		1	786	-	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	41					A8E4L6|Q5T058|Q96JD4|Q9H5K2	Nonsense_Mutation	SNP	ENST00000379287.3	37	c.121G>T	CCDS4524.1	.	.	.	.	.	.	.	.	.	.	C	43	10.051504	0.99325	.	.	ENSG00000145990	ENST00000379287	.	.	.	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-9.0406	16.1112	0.81263	0.0:1.0:0.0:0.0	.	.	.	.	X	41	.	ENSP00000368589:E41X	E	-	1	0	GFOD1	13594981	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.942000	0.40243	2.271000	0.75665	0.536000	0.68110	GAG		0.627	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988		25	82	1	0	7.38e-10	9.95e-10	25	82				
HIST1H4C	8364	broad.mit.edu	37	6	26104378	26104378	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:26104378G>C	ENST00000377803.2	+	1	275	c.203G>C	c.(202-204)cGa>cCa	p.R68P		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	68					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.R68P(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						AACGTTATTCGAGACGCCGTC	0.527																																						uc003ngi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(202-204)CGA>CCA		histone cluster 1, H4c							74.0	66.0	69.0					6																	26104378		2203	4300	6503	SO:0001583	missense	8364				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26104378G>C	X60486	CCDS4583.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000197061	ENSG00000197061		"""Histones / Replication-dependent"""	4787	protein-coding gene	gene with protein product		602827	"""H4 histone family, member G"", ""histone 1, H4c"""	H4FG		9119399, 12408966	Standard	NM_003542		Approved	H4/g, dJ221C16.1	uc003ngi.3	P62805	OTTHUMG00000014429	ENST00000377803.2:c.203G>C	6.37:g.26104378G>C	ENSP00000367034:p.Arg68Pro						p.R68P	NM_003542	NP_003533	P62805	H4_HUMAN			1	203	+			68					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377803.2	37	c.203G>C	CCDS4583.1	.	.	.	.	.	.	.	.	.	.	.	17.67	3.445966	0.63178	.	.	ENSG00000197061	ENST00000377803	T	0.69306	-0.39	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.75332	0.3835	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.78981	-0.1989	7	0.87932	D	0	.	16.8557	0.86005	0.0:0.0:1.0:0.0	.	.	.	.	P	68	ENSP00000367034:R68P	ENSP00000367034:R68P	R	+	2	0	HIST1H4C	26212357	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	9.657000	0.98554	2.533000	0.85409	0.555000	0.69702	CGA		0.527	HIST1H4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040092.2	NM_003542		10	46	0	0	0	0	10	46				
ZBTB12	221527	broad.mit.edu	37	6	31867996	31867996	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:31867996G>A	ENST00000375527.2	-	2	1262	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	EHMT2_ENST00000375530.4_5'Flank|EHMT2_ENST00000375528.4_5'Flank|EHMT2_ENST00000375537.4_5'Flank|C2_ENST00000452323.2_5'Flank|C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	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)			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						TTGCCACAGCGAGGGCACATG	0.562																																						uc003nyd.1		NA																	0					0						c.(1087-1089)CGC>TGC		zinc finger and BTB domain containing 12							118.0	97.0	104.0					6																	31867996		2203	4300	6503	SO:0001583	missense	221527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:31867996G>A	BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19066	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 46"""	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.1087C>T	6.37:g.31867996G>A	ENSP00000364677:p.Arg363Cys					EHMT2_uc003nxz.1_5'Flank|EHMT2_uc003nya.1_5'Flank|EHMT2_uc003nyb.1_5'Flank|C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_5'Flank	p.R363C	NM_181842	NP_862825	Q9Y330	ZBT12_HUMAN			2	1263	-			363			C2H2-type 2.		B0UY00|Q5JQ98	Missense_Mutation	SNP	ENST00000375527.2	37	c.1087C>T	CCDS4727.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.456447	0.26161	.	.	ENSG00000204366	ENST00000375527	T	0.51325	0.71	3.61	3.61	0.41365	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.070952	0.64402	U	0.000019	T	0.24586	0.0596	L	0.42245	1.32	0.46521	D	0.99908	B	0.30741	0.293	B	0.26310	0.068	T	0.14035	-1.0487	10	0.41790	T	0.15	.	14.0245	0.64577	0.0:0.0:1.0:0.0	.	363	Q9Y330	ZBT12_HUMAN	C	363	ENSP00000364677:R363C	ENSP00000364677:R363C	R	-	1	0	ZBTB12	31975975	0.848000	0.29623	0.683000	0.30040	0.983000	0.72400	2.522000	0.45572	1.560000	0.49568	0.313000	0.20887	CGC		0.562	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076315.2	NM_181842		20	65	0	0	0	0	20	65				
ZBTB12	221527	broad.mit.edu	37	6	31868111	31868111	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:31868111G>C	ENST00000375527.2	-	2	1147	c.972C>G	c.(970-972)ttC>ttG	p.F324L	EHMT2_ENST00000375530.4_5'Flank|EHMT2_ENST00000375537.4_5'Flank|C2_ENST00000452323.2_5'Flank|C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	324	Gly-rich.				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)|lung(5)|prostate(1)|skin(1)	10						TTCCACCTGAGAAGCCCCCAG	0.687																																						uc003nyd.1		NA																	0					0						c.(970-972)TTC>TTG		zinc finger and BTB domain containing 12							16.0	17.0	17.0					6																	31868111		2186	4281	6467	SO:0001583	missense	221527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:31868111G>C	BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19066	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 46"""	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.972C>G	6.37:g.31868111G>C	ENSP00000364677:p.Phe324Leu					EHMT2_uc003nxz.1_5'Flank|EHMT2_uc003nya.1_5'Flank|EHMT2_uc003nyb.1_5'Flank|C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_5'Flank	p.F324L	NM_181842	NP_862825	Q9Y330	ZBT12_HUMAN			2	1148	-			324			Gly-rich.		B0UY00|Q5JQ98	Missense_Mutation	SNP	ENST00000375527.2	37	c.972C>G	CCDS4727.1	.	.	.	.	.	.	.	.	.	.	G	0.028	-1.358570	0.01245	.	.	ENSG00000204366	ENST00000375527	T	0.10960	2.82	3.26	-1.3	0.09259	.	0.388763	0.18213	U	0.148118	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.44298	-0.9337	10	0.16420	T	0.52	.	9.7434	0.40431	0.2394:0.0:0.7606:0.0	.	324	Q9Y330	ZBT12_HUMAN	L	324	ENSP00000364677:F324L	ENSP00000364677:F324L	F	-	3	2	ZBTB12	31976090	0.000000	0.05858	0.006000	0.13384	0.367000	0.29736	0.147000	0.16202	-0.669000	0.05289	0.313000	0.20887	TTC		0.687	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076315.2	NM_181842		7	35	0	0	0	0	7	35				
KIF6	221458	broad.mit.edu	37	6	39330286	39330286	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:39330286C>T	ENST00000287152.7	-	17	1964	c.1870G>A	c.(1870-1872)Gaa>Aaa	p.E624K	KIF6_ENST00000538893.1_Missense_Mutation_p.E568K|KIF6_ENST00000394362.1_Missense_Mutation_p.E75K|KIF6_ENST00000373213.4_Missense_Mutation_p.E463K|KIF6_ENST00000541946.1_Missense_Mutation_p.E75K|KIF6_ENST00000373216.3_Missense_Mutation_p.E624K|KIF6_ENST00000229913.5_Missense_Mutation_p.E75K|KIF6_ENST00000373215.3_Missense_Mutation_p.E607K	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	624					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						GCCATGTTTTCCGAGATTCCT	0.512											OREG0017415	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003oot.2		NA																	0				breast(2)|central_nervous_system(1)	3						c.(1870-1872)GAA>AAA		kinesin family member 6							185.0	170.0	175.0					6																	39330286		2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39330286C>T	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.1870G>A	6.37:g.39330286C>T	ENSP00000287152:p.Glu624Lys		OREG0017415	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	885	KIF6_uc003oos.2_Missense_Mutation_p.E75K|KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Missense_Mutation_p.E415K|KIF6_uc011dua.1_Missense_Mutation_p.E607K|KIF6_uc010jxb.1_Missense_Mutation_p.E568K	p.E624K	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN			17	1965	-			624			Potential.		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.1870G>A	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477938	0.63849	.	.	ENSG00000164627	ENST00000287152;ENST00000394362;ENST00000373216;ENST00000373213;ENST00000229913;ENST00000373215;ENST00000538893;ENST00000541946;ENST00000540362	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	5.37	4.49	0.54785	.	.	.	.	.	T	0.40347	0.1113	L	0.48642	1.525	0.34869	D	0.743445	P;P;B;D	0.63880	0.902;0.497;0.331;0.993	B;B;B;D	0.72625	0.342;0.09;0.09;0.978	T	0.26950	-1.0088	9	0.07482	T	0.82	.	9.3252	0.37988	0.0:0.904:0.0:0.096	.	607;568;624;624	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9	.;.;.;KIF6_HUMAN	K	624;75;624;463;75;607;568;75;75	ENSP00000287152:E624K;ENSP00000377889:E75K;ENSP00000362312:E624K;ENSP00000362309:E463K;ENSP00000229913:E75K;ENSP00000362311:E607K;ENSP00000441435:E568K;ENSP00000439064:E75K	ENSP00000229913:E75K	E	-	1	0	KIF6	39438264	1.000000	0.71417	0.977000	0.42913	0.142000	0.21351	2.997000	0.49457	2.673000	0.90976	0.655000	0.94253	GAA		0.512	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		27	137	0	0	0	0	27	137				
TREM2	54209	broad.mit.edu	37	6	41126780	41126780	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:41126780G>A	ENST00000373113.3	-	4	600	c.507C>T	c.(505-507)ccC>ccT	p.P169P	TREM2_ENST00000338469.3_Intron|TREM2_ENST00000373122.4_Missense_Mutation_p.L183F	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	169					axon guidance (GO:0007411)|dendritic cell differentiation (GO:0097028)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of C-C chemokine receptor CCR7 signaling pathway (GO:1903082)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of CD40 signaling pathway (GO:2000350)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to plasma membrane (GO:1903078)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGGTGGGAAGGGGATTTCTC	0.547																																						uc003opy.2		NA																	0				ovary(1)	1						c.(505-507)CCC>CCT		triggering receptor expressed on myeloid cells 2							41.0	46.0	44.0					6																	41126780		2203	4300	6503	SO:0001819	synonymous_variant	54209				axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr6:41126780G>A	AF213457	CCDS4852.1, CCDS64422.1	6p21.1	2014-09-17	2002-08-15		ENSG00000095970	ENSG00000095970		"""Immunoglobulin superfamily / V-set domain containing"""	17761	protein-coding gene	gene with protein product		605086	"""triggering receptor expressed on myeloid cells 2a"""			10799849, 12080485	Standard	NM_001271821		Approved	TREM-2, Trem2a, Trem2b, Trem2c	uc003opy.3	Q9NZC2	OTTHUMG00000014671	ENST00000373113.3:c.507C>T	6.37:g.41126780G>A						TREM2_uc003opz.2_Missense_Mutation_p.L213F|TREM2_uc010jxl.1_Intron	p.P169P	NM_018965	NP_061838	Q9NZC2	TREM2_HUMAN			4	609	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		169			Extracellular (Potential).		Q8N5H8|Q8WYN6	Silent	SNP	ENST00000373113.3	37	c.507C>T	CCDS4852.1																																																																																				0.547	TREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040499.1	NM_018965		6	15	0	0	0	0	6	15				
YIPF3	25844	broad.mit.edu	37	6	43481162	43481162	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:43481162G>A	ENST00000372422.2	-	5	651	c.469C>T	c.(469-471)Ctc>Ttc	p.L157F	LRRC73_ENST00000372441.1_5'Flank|YIPF3_ENST00000506469.1_Missense_Mutation_p.L163F	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	157					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			ACCAGCATGAGAGGTCCATAG	0.478																																						uc003ovl.1		NA																	0					0						c.(469-471)CTC>TTC		natural killer cell-specific antigen KLIP1							117.0	119.0	118.0					6																	43481162		2203	4300	6503	SO:0001583	missense	25844				cell differentiation	integral to membrane|plasma membrane|transport vesicle		g.chr6:43481162G>A	AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"""Yip1 domain family"""	21023	protein-coding gene	gene with protein product		609775	"""chromosome 6 open reading frame 109"""	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.469C>T	6.37:g.43481162G>A	ENSP00000361499:p.Leu157Phe					C6orf154_uc003ovk.1_5'Flank|YIPF3_uc011dvk.1_Missense_Mutation_p.L122F|YIPF3_uc010jyr.1_Missense_Mutation_p.L163F|YIPF3_uc010jys.1_5'UTR|YIPF3_uc003ovm.1_Missense_Mutation_p.L31F|YIPF3_uc010jyt.1_Missense_Mutation_p.L106F	p.L157F	NM_015388	NP_056203	Q9GZM5	YIPF3_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		5	626	-	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		157			Helical; (Potential).		Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Missense_Mutation	SNP	ENST00000372422.2	37	c.469C>T	CCDS4899.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950276	0.73787	.	.	ENSG00000137207	ENST00000372422;ENST00000504851;ENST00000506469;ENST00000503972	T;T;T	0.47528	0.84;0.84;0.84	5.8	5.8	0.92144	.	0.063306	0.64402	D	0.000004	T	0.50137	0.1598	L	0.51422	1.61	0.58432	D	0.999999	D;D;P;D	0.57257	0.96;0.979;0.9;0.979	P;P;P;P	0.54270	0.643;0.747;0.466;0.747	T	0.50882	-0.8775	10	0.66056	D	0.02	-23.7111	18.2414	0.89968	0.0:0.0:1.0:0.0	.	106;163;122;157	D6RED8;E7EQR8;Q5JTD5;Q9GZM5	.;.;.;YIPF3_HUMAN	F	157;106;163;157	ENSP00000361499:L157F;ENSP00000425494:L163F;ENSP00000421461:L157F	ENSP00000361499:L157F	L	-	1	0	YIPF3	43589140	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.906000	0.48735	2.755000	0.94549	0.655000	0.94253	CTC		0.478	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040639.2	NM_015388		6	46	0	0	0	0	6	46				
XPO5	57510	broad.mit.edu	37	6	43538730	43538730	+	Splice_Site	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:43538730C>T	ENST00000265351.7	-	4	512	c.302G>A	c.(301-303)gGa>gAa	p.G101E		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	101	Necessary for interaction with Ran.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GTTCAATGTTCCCTGAAAAAG	0.408																																						uc003ovp.2		NA																	0				skin(2)|breast(1)|kidney(1)	4						c.(301-303)GGA>GAA		exportin 5							136.0	133.0	134.0					6																	43538730		1846	4100	5946	SO:0001630	splice_region_variant	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43538730C>T	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.301-1G>A	6.37:g.43538730C>T							p.G101E	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		4	513	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		101			Necessary for interaction with Ran.		Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	c.302G>A	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	C	33	5.271167	0.95429	.	.	ENSG00000124571	ENST00000265351	T	0.33216	1.42	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.42743	0.1216	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.39761	-0.9598	10	0.02654	T	1	-17.9261	20.3668	0.98882	0.0:1.0:0.0:0.0	.	101	Q9HAV4	XPO5_HUMAN	E	101	ENSP00000265351:G101E	ENSP00000265351:G101E	G	-	2	0	XPO5	43646708	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.392000	0.79840	2.894000	0.99253	0.655000	0.94253	GGA		0.408	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750	Missense_Mutation	5	127	0	0	0	0	5	127				
TFAP2B	7021	broad.mit.edu	37	6	50803961	50803961	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:50803961C>T	ENST00000393655.3	+	4	958	c.789C>T	c.(787-789)ctC>ctT	p.L263L	TFAP2B_ENST00000263046.4_Silent_p.L272L	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	263					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)					CTGAATGCCTCAATGCATCTC	0.458																																					Pancreas(116;1373 2332 5475 10752)	uc003pag.2		NA																	0					0						c.(787-789)CTC>CTT		transcription factor AP-2 beta							49.0	46.0	47.0					6																	50803961		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:50803961C>T	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.789C>T	6.37:g.50803961C>T							p.L263L	NM_003221	NP_003212	Q92481	AP2B_HUMAN			4	955	+	Lung NSC(77;0.156)		263					Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Silent	SNP	ENST00000393655.3	37	c.789C>T	CCDS4934.2																																																																																				0.458	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		13	46	0	0	0	0	13	46				
DST	667	broad.mit.edu	37	6	56437028	56437028	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:56437028G>C	ENST00000361203.3	-	49	12965	c.12958C>G	c.(12958-12960)Ctt>Gtt	p.L4320V	DST_ENST00000244364.6_Missense_Mutation_p.L1908V|DST_ENST00000446842.2_Missense_Mutation_p.L3996V|DST_ENST00000370754.5_Missense_Mutation_p.L4500V|DST_ENST00000370769.4_Missense_Mutation_p.L4322V|DST_ENST00000421834.2_Missense_Mutation_p.L2234V|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.L2234V			Q03001	DYST_HUMAN	dystonin	4320					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAAACTTCAAGATGTTTCTTG	0.333																																						uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(7234-7236)CTT>GTT		dystonin isoform 2							47.0	42.0	43.0					6																	56437028		1823	4068	5891	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56437028G>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.12958C>G	6.37:g.56437028G>C	ENSP00000354508:p.Leu4320Val					DST_uc003pcz.3_Missense_Mutation_p.L2234V|DST_uc011dxj.1_Missense_Mutation_p.L2263V|DST_uc011dxk.1_Missense_Mutation_p.L2274V|DST_uc003pcy.3_Missense_Mutation_p.L1908V|DST_uc010kaa.1_RNA	p.L2412V	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		47	7262	-	Lung NSC(77;0.103)		4320					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.7234C>G		.	.	.	.	.	.	.	.	.	.	G	11.52	1.664528	0.29604	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21	5.75	5.75	0.90469	.	0.000000	0.45867	D	0.000340	T	0.42988	0.1227	L	0.54908	1.71	0.26072	N	0.981206	D;B;B;B;P	0.69078	0.997;0.191;0.338;0.372;0.847	D;B;P;B;P	0.72625	0.978;0.217;0.522;0.17;0.495	T	0.24977	-1.0145	9	0.31617	T	0.26	.	13.1833	0.59668	0.0726:0.0:0.9274:0.0	.	2234;4322;4500;4320;1908	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	V	1908;4500;4322;2234;3996;2234;4320	ENSP00000244364:L1908V;ENSP00000359790:L4500V;ENSP00000359805:L4322V;ENSP00000400883:L2234V;ENSP00000393645:L3996V;ENSP00000359824:L2234V;ENSP00000354508:L4320V	ENSP00000244364:L1908V	L	-	1	0	DST	56544987	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	2.156000	0.42310	2.712000	0.92718	0.591000	0.81541	CTT		0.333	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		5	11	0	0	0	0	5	11				
ZNF451	26036	broad.mit.edu	37	6	57012646	57012646	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:57012646C>T	ENST00000370706.4	+	10	2007	c.1763C>T	c.(1762-1764)tCa>tTa	p.S588L	RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.S588L|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.S588L|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	588					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(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAGCCTTCATCAGCTATTACT	0.393																																						uc003pdm.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1762-1764)TCA>TTA		zinc finger protein 451 isoform 1							122.0	120.0	121.0					6																	57012646		2203	4300	6503	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57012646C>T	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.1763C>T	6.37:g.57012646C>T	ENSP00000359740:p.Ser588Leu					ZNF451_uc003pdl.2_Missense_Mutation_p.S588L|ZNF451_uc003pdn.1_Missense_Mutation_p.S588L|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.S588L	p.S588L	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		10	1987	+	Lung NSC(77;0.145)		588					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.1763C>T	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	C	4.137	0.023740	0.08006	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.19806	2.13;2.14;2.12	4.79	4.79	0.61399	.	0.495496	0.19550	N	0.111593	T	0.07548	0.0190	L	0.27053	0.805	0.32895	D	0.512412	B;B;B;B	0.12630	0.004;0.003;0.003;0.006	B;B;B;B	0.11329	0.006;0.004;0.003;0.003	T	0.09840	-1.0656	10	0.56958	D	0.05	-8.06	11.9259	0.52819	0.0:0.9089:0.0:0.0911	.	588;588;588;588	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	L	588	ENSP00000359740:S588L;ENSP00000350083:S588L;ENSP00000421645:S588L	ENSP00000350083:S588L	S	+	2	0	ZNF451	57120605	0.001000	0.12720	0.384000	0.26145	0.010000	0.07245	1.081000	0.30791	2.482000	0.83794	0.650000	0.86243	TCA		0.393	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		15	62	0	0	0	0	15	62				
LMBRD1	55788	broad.mit.edu	37	6	70411789	70411789	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:70411789G>A	ENST00000370577.3	-	10	1201	c.972C>T	c.(970-972)ttC>ttT	p.F324F	LMBRD1_ENST00000370570.1_Silent_p.F251F	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	324					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ACTTTGACAAGAAGAGAGAAA	0.294																																						uc003pfa.2		NA																	0				ovary(1)	1						c.(970-972)TTC>TTT		liver regeneration p-53 related protein							55.0	56.0	56.0					6																	70411789		2202	4287	6489	SO:0001819	synonymous_variant	55788				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	g.chr6:70411789G>A	AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.972C>T	6.37:g.70411789G>A						LMBRD1_uc003pey.2_Silent_p.F120F|LMBRD1_uc003pez.2_Silent_p.F251F|LMBRD1_uc010kal.2_Silent_p.F251F|LMBRD1_uc003pfb.2_RNA	p.F324F	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN			10	1087	-			324			Helical; Name=6; (Potential).		A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Silent	SNP	ENST00000370577.3	37	c.972C>T	CCDS4969.1																																																																																				0.294	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368		4	15	0	0	0	0	4	15				
LMBRD1	55788	broad.mit.edu	37	6	70423682	70423682	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:70423682T>C	ENST00000370577.3	-	9	999	c.770A>G	c.(769-771)gAt>gGt	p.D257G	LMBRD1_ENST00000370570.1_Missense_Mutation_p.D184G	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	257					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						AGGTCGACCATCTTTGCTCTG	0.363																																						uc003pfa.2		NA																	0				ovary(1)	1						c.(769-771)GAT>GGT		liver regeneration p-53 related protein							85.0	80.0	81.0					6																	70423682		2203	4300	6503	SO:0001583	missense	55788				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	g.chr6:70423682T>C	AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.770A>G	6.37:g.70423682T>C	ENSP00000359609:p.Asp257Gly					LMBRD1_uc003pey.2_Missense_Mutation_p.D53G|LMBRD1_uc003pez.2_Missense_Mutation_p.D184G|LMBRD1_uc010kal.2_Missense_Mutation_p.D184G|LMBRD1_uc003pfb.2_RNA	p.D257G	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN			9	885	-			257			Cytoplasmic (Potential).		A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	ENST00000370577.3	37	c.770A>G	CCDS4969.1	.	.	.	.	.	.	.	.	.	.	T	14.94	2.684075	0.47991	.	.	ENSG00000168216	ENST00000370577;ENST00000370570	T;T	0.27720	1.65;1.65	5.78	4.6	0.57074	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.17066	0.0410	M	0.71581	2.175	0.80722	D	1	B	0.22346	0.068	B	0.21360	0.034	T	0.04386	-1.0955	10	0.21540	T	0.41	-16.4863	12.4862	0.55874	0.1255:0.0:0.0:0.8745	.	257	Q9NUN5	LMBD1_HUMAN	G	257;184	ENSP00000359609:D257G;ENSP00000359602:D184G	ENSP00000359602:D184G	D	-	2	0	LMBRD1	70480403	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.631000	0.74277	1.095000	0.41419	0.482000	0.46254	GAT		0.363	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368		7	23	0	0	0	0	7	23				
BCKDHB	594	broad.mit.edu	37	6	81053418	81053418	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:81053418G>C	ENST00000320393.6	+	10	1123	c.1076G>C	c.(1075-1077)aGa>aCa	p.R359T	BCKDHB_ENST00000356489.5_Missense_Mutation_p.R359T|BCKDHB_ENST00000545529.1_3'UTR	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	359					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		CCTATATCAAGAGTATGTGGT	0.373																																						uc003pjd.2		NA																	0					0						c.(1075-1077)AGA>ACA		branched chain keto acid dehydrogenase E1 beta							133.0	124.0	127.0					6																	81053418		2203	4300	6503	SO:0001583	missense	594				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	g.chr6:81053418G>C	M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.1076G>C	6.37:g.81053418G>C	ENSP00000318351:p.Arg359Thr					BCKDHB_uc003pje.2_Missense_Mutation_p.R359T	p.R359T	NM_000056	NP_000047	P21953	ODBB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0291)	10	1143	+		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)	359					Q5T2J3|Q9BQL0	Missense_Mutation	SNP	ENST00000320393.6	37	c.1076G>C	CCDS4994.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.941014	0.73557	.	.	ENSG00000083123	ENST00000320393;ENST00000356489;ENST00000541767	D;D	0.92099	-2.97;-2.97	6.16	5.3	0.74995	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94522	0.8236	H	0.94808	3.585	0.80722	D	1	P	0.52577	0.954	P	0.48873	0.593	D	0.95412	0.8499	10	0.87932	D	0	-16.3165	14.8613	0.70384	0.0684:0.0:0.9316:0.0	.	359	P21953	ODBB_HUMAN	T	359;359;289	ENSP00000318351:R359T;ENSP00000348880:R359T	ENSP00000318351:R359T	R	+	2	0	BCKDHB	81110137	1.000000	0.71417	0.999000	0.59377	0.594000	0.36715	9.325000	0.96381	1.623000	0.50342	0.650000	0.86243	AGA		0.373	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2	NM_000056		5	45	0	0	0	0	5	45				
MCM9	254394	broad.mit.edu	37	6	119252640	119252640	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:119252640G>A	ENST00000316316.6	-	2	535	c.249C>T	c.(247-249)tcC>tcT	p.S83S	MCM9_ENST00000316068.3_Silent_p.S83S	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	83					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		GCTGAGAAAGGGACTGGAGAA	0.423																																						uc003pyh.2		NA																	0				ovary(1)	1						c.(247-249)TCC>TCT		minichromosome maintenance complex component 9							80.0	74.0	76.0					6																	119252640		2203	4300	6503	SO:0001819	synonymous_variant	254394				DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr6:119252640G>A	BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.249C>T	6.37:g.119252640G>A							p.S83S	NM_153255	NP_694987	Q9NXL9	MCM9_HUMAN		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)	2	512	-		all_cancers(87;0.122)|all_epithelial(87;0.179)	83					B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Silent	SNP	ENST00000316316.6	37	c.249C>T	CCDS56447.1																																																																																				0.423	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255		7	28	0	0	0	0	7	28				
LAMA2	3908	broad.mit.edu	37	6	129687405	129687405	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:129687405G>T	ENST00000421865.2	+	33	4808	c.4759G>T	c.(4759-4761)Gct>Tct	p.A1587S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1587	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CGGTGACTTGGCTCGCCTGGA	0.478																																						uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(4759-4761)GCT>TCT		laminin alpha 2 subunit isoform a precursor							124.0	109.0	114.0					6																	129687405		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129687405G>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4759G>T	6.37:g.129687405G>T	ENSP00000400365:p.Ala1587Ser					LAMA2_uc003qbo.2_Missense_Mutation_p.A1587S	p.A1587S	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	33	4864	+			1587			Domain II and I.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.4759G>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029641	0.54790	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.32988	1.43	5.34	4.48	0.54585	.	0.063063	0.64402	D	0.000007	T	0.13372	0.0324	L	0.46157	1.445	0.38190	D	0.939883	P;P	0.39665	0.495;0.682	B;B	0.33454	0.113;0.164	T	0.03240	-1.1057	10	0.45353	T	0.12	.	12.6249	0.56623	0.0765:0.0:0.9235:0.0	.	1587;1587	A6NF00;P24043	.;LAMA2_HUMAN	S	1587	ENSP00000400365:A1587S	ENSP00000346769:A1587S	A	+	1	0	LAMA2	129729098	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.705000	0.68355	1.263000	0.44181	-0.133000	0.14855	GCT		0.478	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			16	52	1	0	6.94e-10	9.37e-10	16	52				
MAP3K5	4217	broad.mit.edu	37	6	137019686	137019686	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:137019686G>A	ENST00000359015.4	-	4	1107	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	249					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)		GAGGTAAGCAGATGGGTCCAA	0.413																																						uc003qhc.2		NA																	0				ovary(2)|skin(2)|lung(1)	5						c.(745-747)ATC>ATT		mitogen-activated protein kinase kinase kinase							125.0	109.0	115.0					6																	137019686		2203	4300	6503	SO:0001819	synonymous_variant	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.chr6:137019686G>A	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.747C>T	6.37:g.137019686G>A						MAP3K5_uc011edk.1_Silent_p.I94I|MAP3K5_uc010kgw.1_Silent_p.I249I	p.I249I	NM_005923	NP_005914	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	4	1108	-	Colorectal(23;0.24)		249					A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	ENST00000359015.4	37	c.747C>T	CCDS5179.1																																																																																				0.413	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			6	23	0	0	0	0	6	23				
HIVEP2	3097	broad.mit.edu	37	6	143081778	143081778	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:143081778C>T	ENST00000367604.1	-	8	6286	c.5647G>A	c.(5647-5649)Gca>Aca	p.A1883T	HIVEP2_ENST00000012134.2_Missense_Mutation_p.A1883T|HIVEP2_ENST00000367603.2_Missense_Mutation_p.A1883T			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1883					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(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGCTTCTCTGCTGCTTTGTGC	0.368																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(5647-5649)GCA>ACA		human immunodeficiency virus type I enhancer							56.0	53.0	54.0					6																	143081778		1964	4162	6126	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143081778C>T	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5647G>A	6.37:g.143081778C>T	ENSP00000356576:p.Ala1883Thr						p.A1883T	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	9	6390	-			1883					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.5647G>A	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.073647	0.36566	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02369	4.32;4.32;4.32	6.16	0.231	0.15377	.	0.594550	0.19435	N	0.114337	T	0.00524	0.0017	N	0.08118	0	0.28554	N	0.911479	B	0.06786	0.001	B	0.06405	0.002	T	0.47209	-0.9135	10	0.51188	T	0.08	-5.2052	5.3771	0.16172	0.3364:0.4481:0.0:0.2155	.	1883	P31629	ZEP2_HUMAN	T	1883	ENSP00000356576:A1883T;ENSP00000356575:A1883T;ENSP00000012134:A1883T	ENSP00000012134:A1883T	A	-	1	0	HIVEP2	143123471	0.000000	0.05858	0.982000	0.44146	0.998000	0.95712	-0.279000	0.08479	0.088000	0.17205	0.650000	0.86243	GCA		0.368	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			4	14	0	0	0	0	4	14				
SASH1	23328	broad.mit.edu	37	6	148865685	148865685	+	Missense_Mutation	SNP	G	G	A	rs558121554		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:148865685G>A	ENST00000367467.3	+	18	3554	c.3079G>A	c.(3079-3081)Gcc>Acc	p.A1027T		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1027	Pro-rich.				positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GGGCAGCCCCGCCAGCCCCAC	0.701													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13720	0.0		0.0	False		,,,				2504	0.0					uc003qme.1		NA																	0				central_nervous_system(1)	1						c.(3079-3081)GCC>ACC		SAM and SH3 domain containing 1							17.0	22.0	20.0					6																	148865685		2180	4254	6434	SO:0001583	missense	23328						protein binding	g.chr6:148865685G>A	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.3079G>A	6.37:g.148865685G>A	ENSP00000356437:p.Ala1027Thr					SASH1_uc011eeb.1_Missense_Mutation_p.A788T|SASH1_uc003qmf.1_Missense_Mutation_p.A437T	p.A1027T	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	18	3554	+		Ovarian(120;0.0169)	1027			Pro-rich.		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.3079G>A	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.462561	0.01062	.	.	ENSG00000111961	ENST00000367467;ENST00000537769	T	0.36340	1.26	4.43	-6.62	0.01813	.	1.160740	0.06217	N	0.686102	T	0.03651	0.0104	N	0.14661	0.345	0.09310	N	1	B;B	0.20261	0.043;0.043	B;B	0.15052	0.012;0.007	T	0.23440	-1.0188	10	0.10111	T	0.7	-1.4998	1.5647	0.02602	0.2569:0.238:0.344:0.1611	.	1008;1027	Q6P4R9;O94885	.;SASH1_HUMAN	T	1027;437	ENSP00000356437:A1027T	ENSP00000356437:A1027T	A	+	1	0	SASH1	148907378	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-1.096000	0.03353	-1.474000	0.01879	-0.813000	0.03139	GCC		0.701	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		5	37	0	0	0	0	5	37				
ZBTB2	57621	broad.mit.edu	37	6	151686993	151686993	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:151686993T>C	ENST00000325144.4	-	3	1348	c.1208A>G	c.(1207-1209)aAc>aGc	p.N403S		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	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)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GGCAGCCTGGTTGGCCCTGCA	0.517																																						uc003qoh.2		NA																	0				skin(1)	1						c.(1207-1209)AAC>AGC		zinc finger and BTB domain containing 2							97.0	85.0	89.0					6																	151686993		2203	4300	6503	SO:0001583	missense	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151686993T>C	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.1208A>G	6.37:g.151686993T>C	ENSP00000323183:p.Asn403Ser						p.N403S	NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	3	1343	-			403			C2H2-type 3; atypical.		A8K7C7|Q5SZ81|Q9P245	Missense_Mutation	SNP	ENST00000325144.4	37	c.1208A>G	CCDS5231.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.261169	0.39995	.	.	ENSG00000181472	ENST00000325144	T	0.57752	0.38	5.41	5.41	0.78517	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.042116	0.85682	D	0.000000	T	0.19406	0.0466	L	0.27053	0.805	0.58432	D	0.999997	D	0.56968	0.978	B	0.40477	0.33	T	0.24905	-1.0147	10	0.02654	T	1	-53.3676	15.4426	0.75200	0.0:0.0:0.0:1.0	.	403	Q8N680	ZBTB2_HUMAN	S	403	ENSP00000323183:N403S	ENSP00000323183:N403S	N	-	2	0	ZBTB2	151728686	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.075000	0.71261	2.052000	0.61016	0.460000	0.39030	AAC		0.517	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861		19	51	0	0	0	0	19	51				
WIPI2	26100	broad.mit.edu	37	7	5232766	5232766	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:5232766C>G	ENST00000288828.4	+	2	324	c.92C>G	c.(91-93)tCa>tGa	p.S31*	WIPI2_ENST00000401525.3_Intron|WIPI2_ENST00000404704.3_Nonsense_Mutation_p.S31*|WIPI2_ENST00000382384.2_Intron|WIPI2_ENST00000485854.1_Intron	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	31					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		AAAGGGGCATCAAGAGCAGCT	0.388																																						uc003snv.2		NA																	0				ovary(2)	2						c.(91-93)TCA>TGA		WD repeat domain, phosphoinositide interacting 2							129.0	130.0	130.0					7																	5232766		2203	4300	6503	SO:0001587	stop_gained	26100				autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr7:5232766C>G		CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"""WD repeat domain containing"""	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.92C>G	7.37:g.5232766C>G	ENSP00000288828:p.Ser31*					WIPI2_uc003snw.2_Nonsense_Mutation_p.S31*|WIPI2_uc003snx.2_Intron|WIPI2_uc003sny.2_Intron|WIPI2_uc010ksv.2_Translation_Start_Site	p.S31*	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)	2	308	+		Ovarian(82;0.0175)	31					B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Nonsense_Mutation	SNP	ENST00000288828.4	37	c.92C>G	CCDS5339.1	.	.	.	.	.	.	.	.	.	.	C	30	5.052369	0.93793	.	.	ENSG00000157954	ENST00000288828;ENST00000404704	.	.	.	3.42	-0.67	0.11384	.	3.989980	0.01232	U	0.008365	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	0.7207	0.00940	0.1858:0.3833:0.1973:0.2336	.	.	.	.	X	31	.	ENSP00000288828:S31X	S	+	2	0	WIPI2	5199292	0.000000	0.05858	0.000000	0.03702	0.470000	0.32858	-0.153000	0.10144	-0.147000	0.11254	0.650000	0.86243	TCA		0.388	WIPI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241669.2	NM_015610		8	98	0	0	0	0	8	98				
EIF2AK1	27102	broad.mit.edu	37	7	6086667	6086667	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:6086667C>G	ENST00000199389.6	-	5	651	c.505G>C	c.(505-507)Gaa>Caa	p.E169Q	EIF2AK1_ENST00000495565.1_5'Flank|RN7SL851P_ENST00000480512.2_RNA|EIF2AK1_ENST00000536084.1_Missense_Mutation_p.E45Q	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	169	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)	p.E169K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		ATGGCAAGTTCTTCAAATTCA	0.348																																						uc003spp.2		NA																	1	Substitution - Missense(1)		skin(1)	upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4						c.(505-507)GAA>CAA		eukaryotic translation initiation factor 2-alpha							121.0	114.0	117.0					7																	6086667		2202	4300	6502	SO:0001583	missense	27102				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	g.chr7:6086667C>G	BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.505G>C	7.37:g.6086667C>G	ENSP00000199389:p.Glu169Gln					EIF2AK1_uc003spq.2_Missense_Mutation_p.E169Q|EIF2AK1_uc011jwm.1_Missense_Mutation_p.E45Q|EIF2AK1_uc003spr.1_5'Flank	p.E169Q	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)	5	651	-		Ovarian(82;0.0423)	169			Protein kinase.		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	ENST00000199389.6	37	c.505G>C	CCDS5345.1	.	.	.	.	.	.	.	.	.	.	.	28.4	4.914877	0.92178	.	.	ENSG00000086232	ENST00000199389;ENST00000536084	T;T	0.14766	2.48;2.48	5.86	5.86	0.93980	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.33000	0.0848	L	0.45137	1.4	0.58432	D	0.999991	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.87578	0.977;0.997;0.998	T	0.00350	-1.1797	10	0.49607	T	0.09	-32.9787	19.7866	0.96442	0.0:1.0:0.0:0.0	.	45;169;169	B4DIP4;Q9BQI3-2;Q9BQI3	.;.;E2AK1_HUMAN	Q	169;45	ENSP00000199389:E169Q;ENSP00000445784:E45Q	ENSP00000199389:E169Q	E	-	1	0	EIF2AK1	6053193	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	6.084000	0.71335	2.770000	0.95276	0.655000	0.94253	GAA		0.348	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413		7	23	0	0	0	0	7	23				
C7orf31	136895	broad.mit.edu	37	7	25218826	25218826	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:25218826C>G	ENST00000409280.1	-	2	410	c.102G>C	c.(100-102)caG>caC	p.Q34H	C7orf31_ENST00000283905.3_Missense_Mutation_p.Q34H			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	34										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GAGTAACCGTCTGGAGGGGGT	0.428																																						uc003sxn.1		NA																	0					0						c.(100-102)CAG>CAC		hypothetical protein LOC136895							127.0	119.0	122.0					7																	25218826		2203	4300	6503	SO:0001583	missense	136895							g.chr7:25218826C>G	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.102G>C	7.37:g.25218826C>G	ENSP00000386604:p.Gln34His						p.Q34H	NM_138811	NP_620166	Q8N865	CG031_HUMAN			2	663	-			34					A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	37	c.102G>C	CCDS5394.1	.	.	.	.	.	.	.	.	.	.	N	5.231	0.228113	0.09916	.	.	ENSG00000153790	ENST00000409280;ENST00000283905;ENST00000443822;ENST00000415598;ENST00000444434	T;T;T;T;T	0.10192	2.9;2.9;2.9;2.9;2.9	5.33	1.7	0.24286	.	0.764305	0.11885	N	0.520085	T	0.13157	0.0319	L	0.48642	1.525	0.09310	N	1	P	0.40794	0.729	P	0.45138	0.471	T	0.17561	-1.0365	10	0.72032	D	0.01	-28.673	6.5508	0.22433	0.0:0.2835:0.0:0.7165	.	34	Q8N865	CG031_HUMAN	H	34	ENSP00000386604:Q34H;ENSP00000283905:Q34H;ENSP00000388472:Q34H;ENSP00000391212:Q34H;ENSP00000403281:Q34H	ENSP00000283905:Q34H	Q	-	3	2	C7orf31	25185351	0.017000	0.18338	0.003000	0.11579	0.005000	0.04900	0.680000	0.25306	0.338000	0.23692	-0.301000	0.09380	CAG		0.428	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		14	47	0	0	0	0	14	47				
NFE2L3	9603	broad.mit.edu	37	7	26224729	26224729	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:26224729G>T	ENST00000056233.3	+	4	1670	c.1411G>T	c.(1411-1413)Gaa>Taa	p.E471*		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	471					transcription from RNA polymerase II promoter (GO:0006366)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						CTACTACCCAGAACCCAGTAA	0.428																																						uc003sxq.2		NA																	0				skin(3)|ovary(1)	4						c.(1411-1413)GAA>TAA		nuclear factor erythroid 2-like 3							172.0	169.0	170.0					7																	26224729		2203	4300	6503	SO:0001587	stop_gained	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26224729G>T	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1411G>T	7.37:g.26224729G>T	ENSP00000056233:p.Glu471*						p.E471*	NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN			4	1683	+			471					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Nonsense_Mutation	SNP	ENST00000056233.3	37	c.1411G>T	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579120	0.86645	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	.	.	.	4.81	3.9	0.45041	.	0.274134	0.40064	N	0.001181	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-12.5481	9.6584	0.39941	0.0776:0.1433:0.7791:0.0	.	.	.	.	X	471;177	.	ENSP00000056233:E471X	E	+	1	0	NFE2L3	26191254	0.999000	0.42202	0.382000	0.26119	0.186000	0.23388	3.195000	0.51013	1.120000	0.41904	0.591000	0.81541	GAA		0.428	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			27	97	1	0	6.33e-13	8.61e-13	27	97				
BMPER	168667	broad.mit.edu	37	7	34101656	34101656	+	Missense_Mutation	SNP	G	G	A	rs139550819		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:34101656G>A	ENST00000297161.2	+	12	1449	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	BMPER_ENST00000426693.1_Missense_Mutation_p.E359K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	359					blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TATTTGCACTGAAAGTAAGTT	0.299																																						uc011kap.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1075-1077)GAA>AAA		BMP-binding endothelial regulator precursor							98.0	95.0	96.0					7																	34101656		2203	4299	6502	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34101656G>A		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1075G>A	7.37:g.34101656G>A	ENSP00000297161:p.Glu359Lys						p.E359K	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			11	1189	+			359					A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.1075G>A	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	G	33	5.262881	0.95399	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.65916	-0.18;-0.18	6.06	6.06	0.98353	von Willebrand factor, type D domain (1);	0.042436	0.85682	D	0.000000	T	0.71576	0.3356	M	0.64404	1.975	0.80722	D	1	D	0.58620	0.983	P	0.55923	0.787	T	0.63616	-0.6597	10	0.09084	T	0.74	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	359	Q8N8U9	BMPER_HUMAN	K	359	ENSP00000297161:E359K;ENSP00000393950:E359K	ENSP00000297161:E359K	E	+	1	0	BMPER	34068181	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	8.082000	0.89513	2.880000	0.98712	0.650000	0.86243	GAA		0.299	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		4	33	0	0	0	0	4	33				
AOAH	313	broad.mit.edu	37	7	36677476	36677476	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:36677476A>T	ENST00000258749.5	-	5	830	c.431T>A	c.(430-432)gTc>gAc	p.V144D	AOAH_ENST00000535891.1_Missense_Mutation_p.V112D|AOAH_ENST00000431169.1_Missense_Mutation_p.V144D	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	144					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GGACTTCTTGACAATTTGTCT	0.428																																						uc003tfh.3		NA																	0				skin(1)	1						c.(430-432)GTC>GAC		acyloxyacyl hydrolase precursor							233.0	198.0	210.0					7																	36677476		2203	4300	6503	SO:0001583	missense	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36677476A>T	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.431T>A	7.37:g.36677476A>T	ENSP00000258749:p.Val144Asp					AOAH_uc010kxf.2_Missense_Mutation_p.V144D|AOAH_uc011kba.1_Missense_Mutation_p.V112D	p.V144D	NM_001637	NP_001628	P28039	AOAH_HUMAN			5	832	-			144					A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	ENST00000258749.5	37	c.431T>A	CCDS5448.1	.	.	.	.	.	.	.	.	.	.	A	10.68	1.418020	0.25552	.	.	ENSG00000136250	ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647	T;T;T	0.78595	1.82;-1.14;-1.19	4.07	4.07	0.47477	.	0.517175	0.18505	N	0.139233	T	0.80417	0.4619	.	.	.	0.35095	D	0.764711	P;D;P	0.63880	0.894;0.993;0.894	P;P;P	0.54174	0.467;0.744;0.467	D	0.84664	0.0708	9	0.48119	T	0.1	.	9.7266	0.40335	1.0:0.0:0.0:0.0	.	112;144;144	B7Z490;C9J8T1;P28039	.;.;AOAH_HUMAN	D	112;144;144;144	ENSP00000441101:V112D;ENSP00000258749:V144D;ENSP00000405683:V144D	ENSP00000258749:V144D	V	-	2	0	AOAH	36644001	0.021000	0.18746	0.068000	0.19968	0.089000	0.18198	3.522000	0.53480	2.073000	0.62155	0.533000	0.62120	GTC		0.428	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637		7	30	0	0	0	0	7	30				
ABCB4	5244	broad.mit.edu	37	7	87069132	87069132	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:87069132C>T	ENST00000265723.4	-	14	1693	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K	ABCB4_ENST00000359206.3_Missense_Mutation_p.E528K|ABCB4_ENST00000358400.3_Missense_Mutation_p.E528K|ABCB4_ENST00000453593.1_Missense_Mutation_p.E528K|ABCB4_ENST00000545634.1_Missense_Mutation_p.E528K	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	528	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		E -> D (in dbSNP:rs8187797). {ECO:0000269|PubMed:12891548, ECO:0000269|PubMed:15077010, ECO:0000269|Ref.2}.		cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GCCCCTCTCTCTCCAACCAGG	0.478																																						uc003uiv.1		NA																	0				ovary(4)|skin(1)|pancreas(1)	6						c.(1582-1584)GAG>AAG		ATP-binding cassette, subfamily B, member 4							90.0	86.0	87.0					7																	87069132		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87069132C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1582G>A	7.37:g.87069132C>T	ENSP00000265723:p.Glu528Lys					ABCB4_uc003uiw.1_Missense_Mutation_p.E528K|ABCB4_uc003uix.1_Missense_Mutation_p.E528K	p.E528K	NM_018849	NP_061337	P21439	MDR3_HUMAN			14	1658	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		528			ABC transporter 1.|Cytoplasmic (By similarity).		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.1582G>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	36	5.887623	0.97068	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85	5.61	5.61	0.85477	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.224065	0.44902	D	0.000403	D	0.90065	0.6897	M	0.62154	1.92	0.80722	D	1	P;P;P	0.42827	0.791;0.527;0.582	P;P;P	0.53450	0.726;0.447;0.7	D	0.90301	0.4330	10	0.72032	D	0.01	-8.6121	19.6454	0.95775	0.0:1.0:0.0:0.0	.	528;528;528	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	K	528	ENSP00000352135:E528K;ENSP00000351172:E528K;ENSP00000265723:E528K;ENSP00000392983:E528K;ENSP00000437465:E528K	ENSP00000265723:E528K	E	-	1	0	ABCB4	86907068	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.629000	0.89072	0.655000	0.94253	GAG		0.478	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		26	75	0	0	0	0	26	75				
ZNF804B	219578	broad.mit.edu	37	7	88956698	88956698	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:88956698T>C	ENST00000333190.4	+	3	899	c.290T>C	c.(289-291)gTa>gCa	p.V97A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	97							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GCTCGAAATGTAGCTTCTAAG	0.328										HNSCC(36;0.09)																												uc011khi.1		NA																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(289-291)GTA>GCA		zinc finger protein 804B							84.0	87.0	86.0					7																	88956698		2202	4299	6501	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88956698T>C	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.290T>C	7.37:g.88956698T>C	ENSP00000329638:p.Val97Ala	HNSCC(36;0.09)					p.V97A	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		3	828	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		97					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.290T>C	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	T	31	5.081260	0.94050	.	.	ENSG00000182348	ENST00000333190	T	0.18960	2.18	5.04	5.04	0.67666	.	0.000000	0.53938	D	0.000054	T	0.48114	0.1482	M	0.78049	2.395	0.51482	D	0.999927	D	0.89917	1.0	D	0.87578	0.998	T	0.51068	-0.8752	10	0.59425	D	0.04	-14.5136	15.2309	0.73386	0.0:0.0:0.0:1.0	.	97	A4D1E1	Z804B_HUMAN	A	97	ENSP00000329638:V97A	ENSP00000329638:V97A	V	+	2	0	ZNF804B	88794634	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.815000	0.86186	2.239000	0.73571	0.528000	0.53228	GTA		0.328	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		7	50	0	0	0	0	7	50				
MCM7	4176	broad.mit.edu	37	7	99696975	99696975	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:99696975C>T	ENST00000303887.5	-	4	973	c.328G>A	c.(328-330)Gag>Aag	p.E110K	AP4M1_ENST00000429084.1_5'Flank|AP4M1_ENST00000359593.4_5'Flank|MCM7_ENST00000343023.6_Missense_Mutation_p.E110K|AP4M1_ENST00000422582.1_5'Flank|AP4M1_ENST00000421755.1_5'Flank|MCM7_ENST00000354230.3_5'UTR	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	110					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|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)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCCGCTGCTCCATCATTAGC	0.483																																						uc003usw.1		NA																	0					0						c.(328-330)GAG>AAG		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						82.0	91.0	88.0					7																	99696975		2203	4300	6503	SO:0001583	missense	4176				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|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99696975C>T		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.328G>A	7.37:g.99696975C>T	ENSP00000307288:p.Glu110Lys					MCM7_uc003usv.1_5'UTR|MCM7_uc003usx.1_5'UTR|AP4M1_uc011kjg.1_5'Flank|AP4M1_uc010lgl.1_5'Flank|AP4M1_uc003utb.3_5'Flank|AP4M1_uc003utc.3_5'Flank|AP4M1_uc010lgm.2_5'Flank|AP4M1_uc003utd.2_5'Flank|AP4M1_uc011kjh.1_5'Flank|AP4M1_uc003ute.3_5'Flank|AP4M1_uc003utf.3_5'Flank	p.E110K	NM_005916	NP_005907	P33993	MCM7_HUMAN			4	838	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		110					A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	c.328G>A	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769231	0.69992	.	.	ENSG00000166508	ENST00000343023;ENST00000303887;ENST00000542483;ENST00000362082;ENST00000425308	T;T;T	0.11712	2.9;4.12;2.75	4.57	4.57	0.56435	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.14485	0.0350	M	0.61703	1.905	0.80722	D	1	B	0.34241	0.444	B	0.36719	0.231	T	0.05920	-1.0856	10	0.21014	T	0.42	-6.6525	14.8981	0.70659	0.0:1.0:0.0:0.0	.	110	P33993	MCM7_HUMAN	K	110;110;47;3;3	ENSP00000344006:E110K;ENSP00000307288:E110K;ENSP00000411295:E3K	ENSP00000307288:E110K	E	-	1	0	MCM7	99534911	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	5.215000	0.65241	2.351000	0.79841	0.563000	0.77884	GAG		0.483	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			23	100	0	0	0	0	23	100				
MUC17	140453	broad.mit.edu	37	7	100678577	100678577	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:100678577G>A	ENST00000306151.4	+	3	3944	c.3880G>A	c.(3880-3882)Gag>Aag	p.E1294K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1294	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)					GACCAGTCCTGAGGCTAGCAC	0.473																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(3880-3882)GAG>AAG		mucin 17 precursor							265.0	253.0	257.0					7																	100678577		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678577G>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.3880G>A	7.37:g.100678577G>A	ENSP00000302716:p.Glu1294Lys					MUC17_uc010lho.1_RNA	p.E1294K	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	3933	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1294			Extracellular (Potential).|Ser-rich.|19.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3880G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	3.012	-0.203742	0.06180	.	.	ENSG00000169876	ENST00000306151	T	0.02631	4.22	0.471	0.471	0.16752	.	.	.	.	.	T	0.01558	0.0050	L	0.29908	0.895	0.09310	N	1	P	0.38110	0.618	B	0.22601	0.04	T	0.41680	-0.9495	8	0.07813	T	0.8	.	.	.	.	.	1294	Q685J3	MUC17_HUMAN	K	1294	ENSP00000302716:E1294K	ENSP00000302716:E1294K	E	+	1	0	MUC17	100465297	0.001000	0.12720	0.007000	0.13788	0.023000	0.10783	0.245000	0.18142	0.558000	0.29135	0.134000	0.15878	GAG		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		107	407	0	0	0	0	107	407				
RELN	5649	broad.mit.edu	37	7	103137182	103137182	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:103137182T>C	ENST00000428762.1	-	56	9143	c.8984A>G	c.(8983-8985)tAc>tGc	p.Y2995C	RELN_ENST00000424685.2_Missense_Mutation_p.Y2995C|RELN_ENST00000343529.5_Missense_Mutation_p.Y2995C|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2995					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTATTTCTGGTAATCCATCTC	0.418																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(8983-8985)TAC>TGC		reelin isoform a							92.0	86.0	88.0					7																	103137182		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103137182T>C		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8984A>G	7.37:g.103137182T>C	ENSP00000392423:p.Tyr2995Cys					RELN_uc010liz.2_Missense_Mutation_p.Y2995C	p.Y2995C	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	56	9144	-			2995					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.8984A>G	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.739775	0.69304	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.27890	1.64;1.64;1.64	5.74	3.3	0.37823	Neuraminidase (2);	0.128300	0.53938	D	0.000044	T	0.49253	0.1546	M	0.62723	1.935	0.47994	D	0.999562	D;P	0.89917	1.0;0.787	D;P	0.83275	0.996;0.636	T	0.39981	-0.9587	10	0.54805	T	0.06	.	10.4102	0.44289	0.3043:0.0:0.0:0.6956	.	2995;2995	P78509-2;P78509	.;RELN_HUMAN	C	2995;2995;2995;512;2995	ENSP00000392423:Y2995C;ENSP00000345694:Y2995C;ENSP00000388446:Y2995C	ENSP00000345694:Y2995C	Y	-	2	0	RELN	102924418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.055000	0.57441	0.407000	0.25591	0.528000	0.53228	TAC		0.418	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		12	47	0	0	0	0	12	47				
TMEM168	64418	broad.mit.edu	37	7	112424433	112424433	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:112424433G>A	ENST00000312814.6	-	2	1008	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	TMEM168_ENST00000454074.1_Missense_Mutation_p.R150W	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	150						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						AAAGTGGGCCGATGACGGACA	0.408																																						uc003vgn.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(448-450)CGG>TGG		transmembrane protein 168							78.0	77.0	77.0					7																	112424433		2203	4300	6503	SO:0001583	missense	64418					integral to membrane|transport vesicle		g.chr7:112424433G>A		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.448C>T	7.37:g.112424433G>A	ENSP00000323068:p.Arg150Trp					TMEM168_uc010lju.2_Missense_Mutation_p.R150W|TMEM168_uc011kmr.1_Intron	p.R150W	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN			2	840	-			150					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	c.448C>T	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383086	0.61845	.	.	ENSG00000146802	ENST00000312814;ENST00000454074	.	.	.	6.06	5.14	0.70334	.	0.266986	0.38897	N	0.001530	T	0.73353	0.3576	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.64687	0.928	T	0.76408	-0.2970	9	0.87932	D	0	-23.3864	15.7831	0.78275	0.0:0.0:0.8367:0.1633	.	150	Q9H0V1	TM168_HUMAN	W	150	.	ENSP00000323068:R150W	R	-	1	2	TMEM168	112211669	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.606000	0.61126	1.397000	0.46682	0.650000	0.86243	CGG		0.408	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		7	60	0	0	0	0	7	60				
CADPS2	93664	broad.mit.edu	37	7	121960236	121960236	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:121960236C>T	ENST00000449022.2	-	30	3893	c.3874G>A	c.(3874-3876)Gaa>Aaa	p.E1292K	CADPS2_ENST00000313070.7_Missense_Mutation_p.E1251K|CADPS2_ENST00000412584.2_Missense_Mutation_p.E1251K|CADPS2_ENST00000334010.7_Missense_Mutation_p.E1290K	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1292					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TCTTCTTCTTCGTCACTGTCT	0.413																																						uc010lkp.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3874-3876)GAA>AAA		Ca2+-dependent activator protein for secretion 2							155.0	149.0	151.0					7																	121960236		1928	4119	6047	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:121960236C>T		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.3874G>A	7.37:g.121960236C>T	ENSP00000398481:p.Glu1292Lys					CADPS2_uc011knx.1_Missense_Mutation_p.E667K|CADPS2_uc003vkg.3_Missense_Mutation_p.E946K|CADPS2_uc010lkq.2_Missense_Mutation_p.E1251K	p.E1292K	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			29	4037	-			1292					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.3874G>A	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.411673|4.411673	0.83340|0.83340	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000397721	T;T;T;T|.	0.51071|.	0.77;0.72;0.77;0.72|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.062472|.	0.64402|.	D|.	0.000005|.	T|T	0.74489|0.74489	0.3723|0.3723	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.47106|.	0.878;0.875;0.878;0.89|.	B;B;B;B|.	0.39027|.	0.115;0.173;0.115;0.288|.	T|T	0.71388|0.71388	-0.4608|-0.4608	10|5	0.51188|.	T|.	0.08|.	-14.212|-14.212	19.6973|19.6973	0.96031|0.96031	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1296;1251;1292;1246|.	B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3|.	.;.;CAPS2_HUMAN;.|.	K|Q	465;1251;1290;1297;1218;1251;1292|894	ENSP00000325581:E1251K;ENSP00000333940:E1290K;ENSP00000400401:E1251K;ENSP00000398481:E1292K|.	ENSP00000325581:E1251K|.	E|R	-|-	1|2	0|0	CADPS2|CADPS2	121747472|121747472	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.717000|5.717000	0.68446|0.68446	2.674000|2.674000	0.91012|0.91012	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.413	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		20	78	0	0	0	0	20	78				
GCC1	79571	broad.mit.edu	37	7	127222320	127222320	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:127222320G>A	ENST00000321407.2	-	2	2500	c.2076C>T	c.(2074-2076)ggC>ggT	p.G692G	GCC1_ENST00000497650.1_5'Flank	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	692					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GATGCCGTTCGCCCTCCTCCA	0.582																																						uc003vma.2		NA																	0				ovary(2)	2						c.(2074-2076)GGC>GGT		Golgi coiled-coil protein 1							113.0	107.0	109.0					7																	127222320		2203	4300	6503	SO:0001819	synonymous_variant	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127222320G>A	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.2076C>T	7.37:g.127222320G>A							p.G692G	NM_024523	NP_078799	Q96CN9	GCC1_HUMAN			2	2494	-			692			Potential.		Q9H6N7	Silent	SNP	ENST00000321407.2	37	c.2076C>T	CCDS5796.1																																																																																				0.582	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		18	58	0	0	0	0	18	58				
FLNC	2318	broad.mit.edu	37	7	128485033	128485033	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:128485033G>A	ENST00000325888.8	+	21	3775	c.3514G>A	c.(3514-3516)Gag>Aag	p.E1172K	FLNC_ENST00000346177.6_Missense_Mutation_p.E1172K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1172					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAAGGTCGGTGAGGCAGCCAC	0.652																																						uc003vnz.3		NA																	0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(3514-3516)GAG>AAG		gamma filamin isoform a							41.0	48.0	45.0					7																	128485033		2167	4261	6428	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128485033G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.3514G>A	7.37:g.128485033G>A	ENSP00000327145:p.Glu1172Lys					FLNC_uc003voa.3_Missense_Mutation_p.E1172K	p.E1172K	NM_001458	NP_001449	Q14315	FLNC_HUMAN			21	3723	+			1172			Filamin 10.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.3514G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873070	0.91664	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.86297	-2.1;-2.1	5.56	5.56	0.83823	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91925	0.7443	L	0.52759	1.655	0.80722	D	1	D;P	0.76494	0.999;0.923	D;P	0.85130	0.997;0.836	D	0.91049	0.4877	10	0.44086	T	0.13	.	19.5273	0.95212	0.0:0.0:1.0:0.0	.	1172;1172	Q14315-2;Q14315	.;FLNC_HUMAN	K	1172	ENSP00000327145:E1172K;ENSP00000344002:E1172K	ENSP00000327145:E1172K	E	+	1	0	FLNC	128272269	1.000000	0.71417	0.964000	0.40570	0.835000	0.47333	6.690000	0.74567	2.615000	0.88500	0.555000	0.69702	GAG		0.652	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			13	35	0	0	0	0	13	35				
STRA8	346673	broad.mit.edu	37	7	134916760	134916760	+	Silent	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:134916760C>G	ENST00000275764.3	+	1	30	c.30C>G	c.(28-30)ctC>ctG	p.L10L		NM_182489.1	NP_872295.1			stimulated by retinoic acid 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						ACAAGATCCTCTTTTTCAATC	0.488																																						uc011kpx.1		NA																	0					0						c.(28-30)CTC>CTG		STRA8							125.0	118.0	121.0					7																	134916760		2203	4300	6503	SO:0001819	synonymous_variant	346673				DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus		g.chr7:134916760C>G	AF513502	CCDS5839.1	7q33	2012-12-07	2012-12-07		ENSG00000146857	ENSG00000146857			30653	protein-coding gene	gene with protein product		609987	"""stimulated by retinoic acid gene 8 homolog (mouse)"", ""stimulated by retinoic acid 8 homolog (mouse)"""			12489526	Standard	NM_182489		Approved		uc011kpx.2	Q7Z7C7	OTTHUMG00000155415	ENST00000275764.3:c.30C>G	7.37:g.134916760C>G							p.L10L	NM_182489	NP_872295	Q7Z7C7	STRA8_HUMAN			1	30	+			10						Silent	SNP	ENST00000275764.3	37	c.30C>G	CCDS5839.1																																																																																				0.488	STRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340028.1	NM_182489		16	71	0	0	0	0	16	71				
PRSS58	136541	broad.mit.edu	37	7	141952098	141952098	+	Silent	SNP	G	G	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:141952098G>T	ENST00000552471.1	-	5	988	c.669C>A	c.(667-669)atC>atA	p.I223I	PRSS58_ENST00000547058.2_Silent_p.I223I			Q8IYP2	PRS58_HUMAN	protease, serine, 58	223	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TTTTGGCATAGATGCCAACAT	0.458																																						uc003vxb.2		NA																	0					0						c.(667-669)ATC>ATA		trypsin X3 precursor							64.0	71.0	68.0					7																	141952098		2203	4300	6503	SO:0001819	synonymous_variant	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141952098G>T		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.669C>A	7.37:g.141952098G>T						TRYX3_uc003vxc.3_Silent_p.I223I	p.I223I	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN			5	989	-	Melanoma(164;0.0272)		223			Peptidase S1.		B3KVJ6|D3DXD2	Silent	SNP	ENST00000552471.1	37	c.669C>A	CCDS5871.1																																																																																				0.458	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		7	19	1	0	0.00198382	0.0025387	7	19				
TPK1	27010	broad.mit.edu	37	7	144245667	144245667	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:144245667C>T	ENST00000360057.3	-	8	632	c.530G>A	c.(529-531)gGa>gAa	p.G177E	TPK1_ENST00000549981.1_Missense_Mutation_p.G60E|TPK1_ENST00000378099.3_Missense_Mutation_p.G128E|TPK1_ENST00000538212.2_Missense_Mutation_p.G123E|TPK1_ENST00000547966.1_5'UTR	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	177					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)	ACCCTCCATTCCAGTGTCTAC	0.468																																					Ovarian(45;88 1034 2073 5829 28455)	uc003weq.2		NA																	0				ovary(2)	2						c.(529-531)GGA>GAA		thiamin pyrophosphokinase 1 isoform a	Thiamine(DB00152)						200.0	163.0	176.0					7																	144245667		2203	4300	6503	SO:0001583	missense	27010				thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	g.chr7:144245667C>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.530G>A	7.37:g.144245667C>T	ENSP00000353165:p.Gly177Glu					TPK1_uc003weo.2_Missense_Mutation_p.G123E|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.G128E|TPK1_uc003wes.2_RNA	p.G177E	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN			8	633	-			177					A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	37	c.530G>A	CCDS5888.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375562	0.61735	.	.	ENSG00000196511	ENST00000360057;ENST00000538212;ENST00000378099;ENST00000549981	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.95	5.95	0.96441	Thiamin pyrophosphokinase, vitamin B1-binding domain (3);	0.000000	0.85682	D	0.000000	T	0.79707	0.4492	L	0.36672	1.1	0.53688	D	0.999979	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.79784	0.993;0.979;0.989	T	0.74657	-0.3592	10	0.23302	T	0.38	-18.5143	15.8749	0.79154	0.0:1.0:0.0:0.0	.	128;177;123	F5GZG6;Q9H3S4;Q6ZQX6	.;TPK1_HUMAN;.	E	177;123;128;60	ENSP00000353165:G177E;ENSP00000438813:G123E;ENSP00000367339:G128E;ENSP00000448698:G60E	ENSP00000353165:G177E	G	-	2	0	TPK1	143876600	0.919000	0.31177	0.855000	0.33649	0.481000	0.33189	3.680000	0.54641	2.817000	0.96982	0.563000	0.77884	GGA		0.468	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445		19	60	0	0	0	0	19	60				
ABCF2	10061	broad.mit.edu	37	7	150920888	150920888	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:150920888C>T	ENST00000287844.2	-	5	707	c.598G>A	c.(598-600)Gat>Aat	p.D200N	ABCF2_ENST00000473874.1_5'Flank|ABCF2_ENST00000222388.2_Missense_Mutation_p.D200N	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	200	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)		TTGTCGGCATCCAGCTCCTCC	0.602																																						uc003wjp.2		NA																	0				central_nervous_system(1)	1						c.(598-600)GAT>AAT		ATP-binding cassette, sub-family F, member 2							42.0	36.0	38.0					7																	150920888		2203	4300	6503	SO:0001583	missense	10061					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity	g.chr7:150920888C>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.598G>A	7.37:g.150920888C>T	ENSP00000287844:p.Asp200Asn					ABCF2_uc003wjo.1_Missense_Mutation_p.D200N	p.D200N	NM_007189	NP_009120	Q9UG63	ABCF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	709	-			200			ABC transporter 1.		O60864|Q75MJ0|Q75MJ1|Q96TE8	Missense_Mutation	SNP	ENST00000287844.2	37	c.598G>A	CCDS5923.1	.	.	.	.	.	.	.	.	.	.	C	36	5.837633	0.97009	.	.	ENSG00000033050	ENST00000222388;ENST00000287844;ENST00000468073;ENST00000441774	D;D;T;T	0.92397	-2.99;-3.03;3.85;3.85	5.7	5.7	0.88788	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.95395	0.8505	M	0.70275	2.135	0.80722	D	1	D;D	0.60575	0.988;0.988	P;P	0.62560	0.904;0.904	D	0.95509	0.8584	10	0.87932	D	0	-2.9571	18.8208	0.92096	0.0:1.0:0.0:0.0	.	200;200	Q9UG63;Q75MJ1	ABCF2_HUMAN;.	N	200	ENSP00000222388:D200N;ENSP00000287844:D200N;ENSP00000419720:D200N;ENSP00000395785:D200N	ENSP00000222388:D200N	D	-	1	0	ABCF2	150551821	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.237000	0.78164	2.686000	0.91538	0.591000	0.81541	GAT		0.602	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692		10	14	0	0	0	0	10	14				
GALNTL5	168391	broad.mit.edu	37	7	151716792	151716792	+	Missense_Mutation	SNP	G	G	A	rs149825214	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr7:151716792G>A	ENST00000392800.2	+	9	1492	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R413H	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	413					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		ATTCGCGAGCGTGTTGAGTTA	0.423																																						uc003wkp.2		NA																	0				ovary(2)	2						c.(1237-1239)CGT>CAT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide		G	HIS/ARG	6,4400	11.4+/-27.6	0,6,2197	123.0	115.0	118.0		1238	4.0	0.2	7	dbSNP_134	118	0,8600		0,0,4300	yes	missense	GALNTL5	NM_145292.3	29	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	probably-damaging	413/444	151716792	6,13000	2203	4300	6503	SO:0001583	missense	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151716792G>A	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.1238G>A	7.37:g.151716792G>A	ENSP00000376548:p.Arg413His					GALNTL5_uc003wkq.2_Missense_Mutation_p.R164H|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Missense_Mutation_p.R302H	p.R413H	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	9	1461	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	413			Lumenal (Potential).		Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	c.1238G>A	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788707	0.49997	0.001362	0.0	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.58797	0.31;0.31	4.91	4.01	0.46588	.	0.000000	0.49305	D	0.000153	T	0.63570	0.2522	M	0.92459	3.31	0.47994	D	0.999568	P;D	0.56968	0.953;0.978	B;B	0.41666	0.363;0.299	T	0.74087	-0.3778	10	0.87932	D	0	.	9.2691	0.37659	0.1002:0.0:0.8998:0.0	.	164;413	A8MZD3;Q7Z4T8	.;GLTL5_HUMAN	H	413	ENSP00000392582:R413H;ENSP00000376548:R413H	ENSP00000376548:R413H	R	+	2	0	GALNTL5	151347725	1.000000	0.71417	0.197000	0.23402	0.005000	0.04900	3.674000	0.54598	2.523000	0.85059	0.650000	0.86243	CGT		0.423	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		6	53	0	0	0	0	6	53				
TDRP	157695	broad.mit.edu	37	8	444518	444518	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:444518C>G	ENST00000324079.6	-	2	428	c.188G>C	c.(187-189)aGa>aCa	p.R63T	TDRP_ENST00000523656.1_Missense_Mutation_p.R63T|TDRP_ENST00000427263.2_Missense_Mutation_p.R63T|TDRP_ENST00000524229.1_5'UTR			Q86YL5	TDRP_HUMAN	testis development related protein	63					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGATTTACATCTTTCCAGGAG	0.398																																						uc003wpd.2		NA																	0					0						c.(187-189)AGA>ACA		hypothetical protein LOC157695							147.0	133.0	137.0					8																	444518		1943	4129	6072	SO:0001583	missense	157695							g.chr8:444518C>G	AY194292	CCDS47759.1, CCDS59090.1	8p23.3	2013-06-03	2013-06-03	2013-06-03	ENSG00000180190	ENSG00000180190			26951	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 42"""	C8orf42		20170638	Standard	NM_175075		Approved	INM01, TDRP1, TDRP2		Q86YL5	OTTHUMG00000163593	ENST00000324079.6:c.188G>C	8.37:g.444518C>G	ENSP00000315111:p.Arg63Thr					C8orf42_uc011kwg.1_Missense_Mutation_p.R63T	p.R63T	NM_175075	NP_778250	Q86YL5	CH042_HUMAN		Epithelial(5;5.16e-14)|OV - Ovarian serous cystadenocarcinoma(5;7.35e-07)|BRCA - Breast invasive adenocarcinoma(11;4.17e-06)|COAD - Colon adenocarcinoma(149;0.0255)	2	762	-		Ovarian(12;0.0481)|Colorectal(14;0.0815)|Hepatocellular(245;0.0968)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)	63					B6VF03|B9EG53	Missense_Mutation	SNP	ENST00000324079.6	37	c.188G>C	CCDS47759.1	.	.	.	.	.	.	.	.	.	.	C	3.931	-0.016112	0.07681	.	.	ENSG00000180190	ENST00000324079;ENST00000523656;ENST00000427263	.	.	.	5.92	-1.06	0.10002	.	0.469539	0.26311	N	0.025109	T	0.15782	0.0380	N	0.14661	0.345	0.09310	N	1	B;B	0.20052	0.041;0.007	B;B	0.20955	0.032;0.003	T	0.24905	-1.0147	9	0.15066	T	0.55	-26.2353	6.705	0.23246	0.0:0.4854:0.2241:0.2905	.	63;63	B6VF03;Q86YL5	.;CH042_HUMAN	T	63	.	ENSP00000315111:R63T	R	-	2	0	C8orf42	434518	0.215000	0.23574	0.000000	0.03702	0.279000	0.26890	0.569000	0.23638	-0.109000	0.12044	0.650000	0.86243	AGA		0.398	TDRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374442.1	NM_175075		5	47	0	0	0	0	5	47				
MTUS1	57509	broad.mit.edu	37	8	17532707	17532707	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:17532707G>A	ENST00000262102.6	-	8	3117	c.2893C>T	c.(2893-2895)Cgg>Tgg	p.R965W	MTUS1_ENST00000381861.3_Missense_Mutation_p.R212W|MTUS1_ENST00000519263.1_Missense_Mutation_p.R911W|MTUS1_ENST00000297488.6_Missense_Mutation_p.R131W|MTUS1_ENST00000544260.1_Missense_Mutation_p.R110W|MTUS1_ENST00000400046.1_Missense_Mutation_p.R37W|MTUS1_ENST00000381869.3_Missense_Mutation_p.R911W|MTUS1_ENST00000518713.1_5'UTR	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	965					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AGCTCTCCCCGGAGGTTAACA	0.463																																						uc003wxv.2		NA																	0				ovary(1)|skin(1)	2						c.(2893-2895)CGG>TGG		mitochondrial tumor suppressor 1 isoform 1							174.0	162.0	166.0					8																	17532707		1929	4128	6057	SO:0001583	missense	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17532707G>A	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2893C>T	8.37:g.17532707G>A	ENSP00000262102:p.Arg965Trp					MTUS1_uc003wxt.2_Missense_Mutation_p.R212W|MTUS1_uc011kyg.1_Missense_Mutation_p.R110W|MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.R911W|MTUS1_uc003wxs.2_Missense_Mutation_p.R131W	p.R965W	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	8	3367	-			965			Potential.		A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	c.2893C>T	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397834	0.83120	.	.	ENSG00000129422	ENST00000381869;ENST00000544260;ENST00000400046;ENST00000297488;ENST00000381861;ENST00000262102;ENST00000519263	T;T;T;T;T;T;T	0.35973	1.28;1.28;1.91;1.28;1.28;1.28;1.28	4.61	4.61	0.57282	.	0.119890	0.64402	D	0.000020	T	0.61887	0.2383	M	0.83603	2.65	0.80722	D	1	D;P;D;D	0.89917	1.0;0.949;0.992;0.996	P;P;P;P	0.62184	0.899;0.685;0.685;0.685	T	0.69339	-0.5171	10	0.87932	D	0	-17.5251	18.0913	0.89476	0.0:0.0:1.0:0.0	.	911;965;212;131	Q9ULD2-2;Q9ULD2;Q9ULD2-6;Q9ULD2-3	.;MTUS1_HUMAN;.;.	W	911;110;37;131;212;965;911	ENSP00000371293:R911W;ENSP00000445738:R110W;ENSP00000382921:R37W;ENSP00000297488:R131W;ENSP00000371285:R212W;ENSP00000262102:R965W;ENSP00000430167:R911W	ENSP00000262102:R965W	R	-	1	2	MTUS1	17576987	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.095000	0.50235	2.576000	0.86940	0.460000	0.39030	CGG		0.463	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		10	42	0	0	0	0	10	42				
CSGALNACT1	55790	broad.mit.edu	37	8	19363042	19363042	+	Missense_Mutation	SNP	C	C	T	rs201825362		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:19363042C>T	ENST00000454498.2	-	4	1317	c.304G>A	c.(304-306)Gat>Aat	p.D102N	CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.D102N|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.D102N|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.D102N|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.D102N	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	102					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|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)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CCAGCAGCATCGCTGGCTTGG	0.627													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17953	0.0		0.0	False		,,,				2504	0.0					uc011kyn.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(304-306)GAT>AAT		chondroitin sulfate							49.0	46.0	47.0					8																	19363042		2203	4300	6503	SO:0001583	missense	55790				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	g.chr8:19363042C>T	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.304G>A	8.37:g.19363042C>T	ENSP00000411816:p.Asp102Asn					CSGALNACT1_uc011kyo.1_Missense_Mutation_p.D102N|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.D101N|CSGALNACT1_uc003wzh.2_RNA	p.D102N	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	4	1368	-			102			Lumenal (Potential).		B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP	ENST00000454498.2	37	c.304G>A	CCDS6010.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	6.864	0.528790	0.13127	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602;ENST00000523262	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	4.83	4.83	0.62350	.	0.676657	0.15657	N	0.251093	T	0.15349	0.0370	L	0.51422	1.61	0.37185	D	0.903693	B	0.10296	0.003	B	0.10450	0.005	T	0.11966	-1.0566	10	0.10902	T	0.67	-11.7499	16.4894	0.84195	0.0:1.0:0.0:0.0	.	102	Q8TDX6	CGAT1_HUMAN	N	102	ENSP00000411816:D102N;ENSP00000330805:D102N;ENSP00000310891:D102N;ENSP00000429809:D102N;ENSP00000442155:D102N	ENSP00000310891:D102N	D	-	1	0	CSGALNACT1	19407322	0.014000	0.17966	0.440000	0.26846	0.061000	0.15899	1.380000	0.34351	2.246000	0.74042	0.557000	0.71058	GAT		0.627	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		20	42	0	0	0	0	20	42				
ATP6V1B2	526	broad.mit.edu	37	8	20074737	20074737	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:20074737C>A	ENST00000276390.2	+	12	1208	c.1168C>A	c.(1168-1170)Cca>Aca	p.P390T		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	390					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)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	CAAGATTTATCCACCTATCAA	0.363																																					Pancreas(119;1230 1726 3901 4036 31644)	uc003wzp.2		NA																	0					0						c.(1168-1170)CCA>ACA		vacuolar H+ATPase B2							174.0	156.0	162.0					8																	20074737		2203	4300	6503	SO:0001583	missense	526				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr8:20074737C>A	L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"""ATPases / V-type"""	854	protein-coding gene	gene with protein product		606939	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2"", ""ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"""	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.1168C>A	8.37:g.20074737C>A	ENSP00000276390:p.Pro390Thr					ATP6V1B2_uc003wzq.1_5'Flank	p.P390T	NM_001693	NP_001684	P21281	VATB2_HUMAN		Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	12	1382	+			390					B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Missense_Mutation	SNP	ENST00000276390.2	37	c.1168C>A	CCDS6014.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577316	0.86645	.	.	ENSG00000147416	ENST00000276390;ENST00000542368	D	0.97303	-4.33	5.63	5.63	0.86233	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99233	0.9733	H	0.99117	4.435	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	D	0.98691	1.0696	10	0.87932	D	0	-15.375	18.6031	0.91256	0.0:1.0:0.0:0.0	.	390	P21281	VATB2_HUMAN	T	390;264	ENSP00000276390:P390T	ENSP00000276390:P390T	P	+	1	0	ATP6V1B2	20119017	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	6.067000	0.71193	2.805000	0.96524	0.655000	0.94253	CCA		0.363	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253732.1	NM_001693		13	79	1	0	1.58e-08	2.13e-08	13	79				
TTI2	80185	broad.mit.edu	37	8	33357860	33357860	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:33357860G>A	ENST00000431156.2	-	7	2026	c.1408C>T	c.(1408-1410)Caa>Taa	p.Q470*	TTI2_ENST00000360742.5_Nonsense_Mutation_p.Q470*|MAK16_ENST00000360128.6_3'UTR|TTI2_ENST00000520636.1_Nonsense_Mutation_p.Q439*|TTI2_ENST00000519356.1_5'UTR	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	470																	ACCCGTCCTTGAGAACAGCGG	0.458																																						uc003xjl.3		NA																	0					0						c.(1408-1410)CAA>TAA		hypothetical protein LOC80185							82.0	72.0	75.0					8																	33357860		2203	4300	6503	SO:0001587	stop_gained	80185						binding	g.chr8:33357860G>A	AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"""chromosome 8 open reading frame 41"", ""Tel2 interacting protein 2 homolog (S. pombe)"""	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.1408C>T	8.37:g.33357860G>A	ENSP00000411169:p.Gln470*					C8orf41_uc010lvu.1_RNA|MAK16_uc003xjj.2_3'UTR|C8orf41_uc003xjk.3_Nonsense_Mutation_p.Q439*|C8orf41_uc010lvv.2_Intron|C8orf41_uc003xjm.3_Nonsense_Mutation_p.Q470*	p.Q470*	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)	6	1933	-			470					D3DSV7|Q96IM2|Q9H5N4	Nonsense_Mutation	SNP	ENST00000431156.2	37	c.1408C>T	CCDS6090.1	.	.	.	.	.	.	.	.	.	.	G	39	7.327805	0.98214	.	.	ENSG00000129696	ENST00000360742;ENST00000431156;ENST00000522668;ENST00000520636	.	.	.	5.38	-1.85	0.07784	.	0.937703	0.09012	N	0.861411	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-0.0869	1.718	0.02905	0.1674:0.3729:0.2056:0.2541	.	.	.	.	X	470;470;459;439	.	ENSP00000353971:Q470X	Q	-	1	0	C8orf41	33477402	0.000000	0.05858	0.011000	0.14972	0.436000	0.31835	-0.024000	0.12435	-0.021000	0.14009	0.557000	0.71058	CAA		0.458	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115		10	41	0	0	0	0	10	41				
HGSNAT	138050	broad.mit.edu	37	8	43053070	43053070	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:43053070G>A	ENST00000458501.2	+	17	1785	c.1785G>A	c.(1783-1785)tgG>tgA	p.W595*	HGSNAT_ENST00000521576.1_Nonsense_Mutation_p.W284*|HGSNAT_ENST00000297798.7_Nonsense_Mutation_p.W299*|HGSNAT_ENST00000379644.4_Nonsense_Mutation_p.W567*			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	595					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AGGGGCTGTGGACAGGAACCC	0.552																																						uc003xpx.3		NA																	0					0						c.(1699-1701)TGG>TGA		heparan-alpha-glucosaminide N-acetyltransferase							118.0	113.0	115.0					8																	43053070		1932	4149	6081	SO:0001587	stop_gained	138050				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity	g.chr8:43053070G>A		CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.1785G>A	8.37:g.43053070G>A	ENSP00000389524:p.Trp595*						p.W567*	NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		17	1749	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	595			Helical; (Potential).		B4E2V0	Nonsense_Mutation	SNP	ENST00000458501.2	37	c.1701G>A		.	.	.	.	.	.	.	.	.	.	G	38	6.808287	0.97853	.	.	ENSG00000165102	ENST00000458501;ENST00000379644;ENST00000521576;ENST00000297798	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-12.3222	18.1531	0.89682	0.0:0.0:1.0:0.0	.	.	.	.	X	595;567;284;299	.	ENSP00000297798:W299X	W	+	3	0	HGSNAT	43172227	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.258000	0.95555	2.885000	0.99019	0.655000	0.94253	TGG		0.552	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038		6	22	0	0	0	0	6	22				
RP1	6101	broad.mit.edu	37	8	55539467	55539467	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:55539467G>A	ENST00000220676.1	+	4	3173	c.3025G>A	c.(3025-3027)Gtt>Att	p.V1009I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1009					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)			TGAGACACAGGTTGGATCTCT	0.383																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(3025-3027)GTT>ATT		retinitis pigmentosa RP1 protein							208.0	225.0	219.0					8																	55539467		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.chr8:55539467G>A	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.3025G>A	8.37:g.55539467G>A	ENSP00000220676:p.Val1009Ile					RP1_uc011ldy.1_Intron	p.V1009I	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	3173	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1009						Missense_Mutation	SNP	ENST00000220676.1	37	c.3025G>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	9.963	1.223362	0.22457	.	.	ENSG00000104237	ENST00000220676	T	0.22743	1.94	5.38	-0.803	0.10886	.	1.015760	0.07881	N	0.969471	T	0.20740	0.0499	L	0.54323	1.7	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.35400	-0.9790	10	0.32370	T	0.25	.	10.6848	0.45837	0.5123:0.0:0.4877:0.0	.	1009	P56715	RP1_HUMAN	I	1009	ENSP00000220676:V1009I	ENSP00000220676:V1009I	V	+	1	0	RP1	55702020	0.000000	0.05858	0.001000	0.08648	0.675000	0.39556	0.278000	0.18753	-0.002000	0.14469	0.655000	0.94253	GTT		0.383	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		44	193	0	0	0	0	44	193				
CYP7B1	9420	broad.mit.edu	37	8	65517375	65517375	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:65517375G>C	ENST00000310193.3	-	5	1270	c.1097C>G	c.(1096-1098)tCa>tGa	p.S366*	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	366					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AATGGTGGTTGAATATGAGGA	0.443																																						uc003xvj.2		NA																	0				ovary(3)	3						c.(1096-1098)TCA>TGA		cytochrome P450, family 7, subfamily B,							93.0	84.0	87.0					8																	65517375		2203	4300	6503	SO:0001587	stop_gained	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65517375G>C	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.1097C>G	8.37:g.65517375G>C	ENSP00000310721:p.Ser366*						p.S366*	NM_004820	NP_004811	O75881	CP7B1_HUMAN			5	1301	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	366					B2RN07|Q9UNF5	Nonsense_Mutation	SNP	ENST00000310193.3	37	c.1097C>G	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	G	37	6.370408	0.97511	.	.	ENSG00000172817	ENST00000310193	.	.	.	6.17	6.17	0.99709	.	0.054722	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-24.4743	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	366	.	ENSP00000310721:S366X	S	-	2	0	CYP7B1	65679929	1.000000	0.71417	0.048000	0.18961	0.001000	0.01503	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	TCA		0.443	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			25	36	0	0	0	0	25	36				
GEM	2669	broad.mit.edu	37	8	95272531	95272531	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:95272531G>C	ENST00000297596.2	-	2	465	c.201C>G	c.(199-201)atC>atG	p.I67M	GEM_ENST00000396194.2_Missense_Mutation_p.I67M	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	67					cell surface receptor signaling pathway (GO:0007166)|chromosome organization (GO:0051276)|immune response (GO:0006955)|metaphase plate congression (GO:0051310)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic side of plasma membrane (GO:0009898)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			ACTCAGAGGAGATGACTGAGT	0.587																																					GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)	uc003ygj.2		NA																	0				lung(1)	1						c.(199-201)ATC>ATG		GTP-binding mitogen-induced T-cell protein							104.0	96.0	99.0					8																	95272531		2203	4300	6503	SO:0001583	missense	2669				cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	g.chr8:95272531G>C		CCDS6261.1	8q13-q21	2014-05-09	2001-11-28		ENSG00000164949	ENSG00000164949			4234	protein-coding gene	gene with protein product	"""kinase-inducible Ras-like protein"""	600164	"""GTP-binding protein overexpressed in skeletal muscle"""			7912851, 11956230	Standard	NM_005261		Approved	KIR	uc003ygj.3	P55040	OTTHUMG00000164392	ENST00000297596.2:c.201C>G	8.37:g.95272531G>C	ENSP00000297596:p.Ile67Met					GEM_uc003ygi.2_Missense_Mutation_p.I67M	p.I67M	NM_005261	NP_005252	P55040	GEM_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		2	450	-	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	67					B2RA31	Missense_Mutation	SNP	ENST00000297596.2	37	c.201C>G	CCDS6261.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111062	0.77210	.	.	ENSG00000164949	ENST00000396194;ENST00000297596;ENST00000523433	T;T;T	0.66280	-0.2;-0.2;0.88	5.29	3.47	0.39725	.	0.109437	0.64402	D	0.000009	T	0.66954	0.2842	M	0.68952	2.095	0.54753	D	0.999985	D	0.62365	0.991	P	0.51999	0.687	T	0.68142	-0.5487	10	0.41790	T	0.15	.	12.1903	0.54268	0.1246:0.0:0.8754:0.0	.	67	P55040	GEM_HUMAN	M	67	ENSP00000379497:I67M;ENSP00000297596:I67M;ENSP00000428258:I67M	ENSP00000297596:I67M	I	-	3	3	GEM	95341707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.417000	0.59822	2.473000	0.83533	0.655000	0.94253	ATC		0.587	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378566.1	NM_181702		11	53	0	0	0	0	11	53				
RNF19A	25897	broad.mit.edu	37	8	101287254	101287254	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:101287254C>G	ENST00000519449.1	-	4	1126	c.810G>C	c.(808-810)gaG>gaC	p.E270D	RNF19A_ENST00000341084.2_Missense_Mutation_p.E270D	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	270					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TCTGGGCTCTCTCTTGTCGAG	0.428																																						uc003yjj.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(808-810)GAG>GAC		ring finger protein 19							97.0	95.0	96.0					8																	101287254		2203	4300	6503	SO:0001583	missense	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101287254C>G	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.810G>C	8.37:g.101287254C>G	ENSP00000428968:p.Glu270Asp					RNF19A_uc003yjk.1_Missense_Mutation_p.E270D	p.E270D	NM_015435	NP_056250	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		4	1127	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		270					A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	c.810G>C	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802658	0.50315	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.84298	-1.83;-1.83	5.54	1.78	0.24846	.	0.154450	0.64402	D	0.000019	T	0.73984	0.3657	L	0.34521	1.04	0.47037	D	0.999292	P	0.38195	0.622	B	0.32762	0.152	T	0.69409	-0.5153	10	0.66056	D	0.02	.	9.5216	0.39138	0.0:0.7113:0.0:0.2887	.	270	Q9NV58	RN19A_HUMAN	D	270	ENSP00000428968:E270D;ENSP00000342667:E270D	ENSP00000342667:E270D	E	-	3	2	RNF19A	101356430	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	1.240000	0.32731	0.150000	0.19136	-0.781000	0.03364	GAG		0.428	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		10	69	0	0	0	0	10	69				
EPPK1	83481	broad.mit.edu	37	8	144942096	144942096	+	Missense_Mutation	SNP	C	C	T	rs202016455		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:144942096C>T	ENST00000525985.1	-	2	5397	c.5326G>A	c.(5326-5328)Gtg>Atg	p.V1776M				P58107	EPIPL_HUMAN	epiplakin 1	1776						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)			GATTGCAACACGTGTCTCGTG	0.527																																						uc003zaa.1		NA																	0				pancreas(1)|skin(1)	2						c.(5326-5328)GTG>ATG		epiplakin 1		C	MET/VAL	3,3965		0,3,1981	123.0	119.0	120.0		5326	0.0	0.0	8		120	2,8344		0,2,4171	no	missense	EPPK1	NM_031308.1	21	0,5,6152	TT,TC,CC		0.024,0.0756,0.0406	benign	1776/2420	144942096	5,12309	1984	4173	6157	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144942096C>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.5326G>A	8.37:g.144942096C>T	ENSP00000436337:p.Val1776Met						p.V1776M	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	5339	-	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)		1776					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.5326G>A		.	.	.	.	.	.	.	.	.	.	C	11.07	1.531459	0.27387	7.56E-4	2.4E-4	ENSG00000227184	ENST00000525985	T	0.68765	-0.35	5.2	0.0362	0.14191	.	.	.	.	.	T	0.52565	0.1742	L	0.49126	1.545	0.09310	N	1	B	0.15719	0.014	B	0.11329	0.006	T	0.46303	-0.9201	9	0.46703	T	0.11	.	1.1297	0.01743	0.2457:0.2856:0.2959:0.1729	.	1776	E9PPU0	.	M	1776	ENSP00000436337:V1776M	ENSP00000436337:V1776M	V	-	1	0	EPPK1	145014084	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.289000	0.18957	0.069000	0.16605	-0.225000	0.12378	GTG		0.527	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		6	65	0	0	0	0	6	65				
CPSF1	29894	broad.mit.edu	37	8	145623786	145623786	+	Silent	SNP	G	G	A	rs201246127	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:145623786G>A	ENST00000349769.3	-	19	1894	c.1800C>T	c.(1798-1800)ttC>ttT	p.F600F	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	600					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCTGAGTGGCGAAGCCACTGG	0.657													G|||	2	0.000399361	0.0	0.0	5008	,	,		13319	0.001		0.001	False		,,,				2504	0.0				NSCLC(133;1088 1848 27708 34777 35269)	uc003zcj.2		NA																	0				skin(1)	1						c.(1798-1800)TTC>TTT		cleavage and polyadenylation specific factor 1,							85.0	92.0	90.0					8																	145623786		2203	4300	6503	SO:0001819	synonymous_variant	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145623786G>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1800C>T	8.37:g.145623786G>A							p.F600F	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		19	1875	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		600					Q96AF0	Silent	SNP	ENST00000349769.3	37	c.1800C>T	CCDS34966.1																																																																																				0.657	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		6	181	0	0	0	0	6	181				
DOCK8	81704	broad.mit.edu	37	9	368027	368027	+	Silent	SNP	C	C	G	rs374343164		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:368027C>G	ENST00000453981.1	+	15	1801	c.1689C>G	c.(1687-1689)ctC>ctG	p.L563L	DOCK8_ENST00000469391.1_Silent_p.L495L|DOCK8_ENST00000432829.2_Silent_p.L495L|DOCK8_ENST00000382329.1_5'UTR|DOCK8_ENST00000382331.1_5'UTR			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	563	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)		GAAACCTTCTCTATGTCTACC	0.378																																						uc003zgf.2		NA																	0				ovary(3)|central_nervous_system(3)	6						c.(1687-1689)CTC>CTG		dedicator of cytokinesis 8		C	,,	1,4405	4.2+/-10.8	0,1,2202	89.0	83.0	85.0		1485,1485,1689	2.2	1.0	9		85	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	DOCK8	NM_001190458.1,NM_001193536.1,NM_203447.3	,,	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	,,	495/2000,495/2032,563/2100	368027	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:368027C>G	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.1689C>G	9.37:g.368027C>G						DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Silent_p.L495L|DOCK8_uc010mgw.1_5'UTR|DOCK8_uc003zgk.2_5'UTR|DOCK8_uc003zgh.2_RNA	p.L563L	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)	15	1801	+		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)	563			DHR-1.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.1689C>G	CCDS6440.2																																																																																				0.378	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		9	56	0	0	0	0	9	56				
VLDLR	7436	broad.mit.edu	37	9	2645067	2645067	+	Missense_Mutation	SNP	G	G	A	rs140062795	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:2645067G>A	ENST00000382100.3	+	9	1653	c.1297G>A	c.(1297-1299)Gtg>Atg	p.V433M	VLDLR_ENST00000382099.2_Missense_Mutation_p.V433M	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	433	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TGCTACTGGCGTGTGCAAGGC	0.418													G|||	4	0.000798722	0.0023	0.0014	5008	,	,		23357	0.0		0.0	False		,,,				2504	0.0					uc003zhk.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1297-1299)GTG>ATG		very low density lipoprotein receptor isoform a		G	MET/VAL,MET/VAL	4,4402	8.1+/-20.4	0,4,2199	194.0	188.0	190.0		1297,1297	6.0	1.0	9	dbSNP_134	190	0,8600		0,0,4300	no	missense,missense	VLDLR	NM_001018056.1,NM_003383.3	21,21	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging,probably-damaging	433/846,433/874	2645067	4,13002	2203	4300	6503	SO:0001583	missense	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2645067G>A		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.1297G>A	9.37:g.2645067G>A	ENSP00000371532:p.Val433Met					VLDLR_uc003zhl.1_Missense_Mutation_p.V433M|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Missense_Mutation_p.V392M	p.V433M	NM_003383	NP_003374	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	9	1694	+			433			Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).		B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	c.1297G>A	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528424	0.85706	9.08E-4	0.0	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	D;D	0.90620	-2.68;-2.7	5.97	5.97	0.96955	Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);	0.000000	0.47852	D	0.000203	D	0.92044	0.7479	N	0.17082	0.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	D	0.93027	0.6445	10	0.72032	D	0.01	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	433;433;433	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	M	433;433;312	ENSP00000371532:V433M;ENSP00000371531:V433M	ENSP00000371524:V312M	V	+	1	0	VLDLR	2635067	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.812000	0.75226	2.836000	0.97738	0.655000	0.94253	GTG		0.418	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		6	108	0	0	0	0	6	108				
KIAA2026	158358	broad.mit.edu	37	9	5922659	5922659	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:5922659G>A	ENST00000399933.3	-	8	3336	c.3337C>T	c.(3337-3339)Cag>Tag	p.Q1113*	KIAA2026_ENST00000381461.2_Nonsense_Mutation_p.Q1083*	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1113										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TCTTTATGCTGAATCACAAAA	0.373																																						uc003zjq.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(3337-3339)CAG>TAG		hypothetical protein LOC158358							117.0	110.0	112.0					9																	5922659		1850	4102	5952	SO:0001587	stop_gained	158358							g.chr9:5922659G>A	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.3337C>T	9.37:g.5922659G>A	ENSP00000382815:p.Gln1113*					KIAA2026_uc010mht.2_Nonsense_Mutation_p.Q288*	p.Q1113*	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	3553	-		Acute lymphoblastic leukemia(23;0.158)	1113					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Nonsense_Mutation	SNP	ENST00000399933.3	37	c.3337C>T		.	.	.	.	.	.	.	.	.	.	G	38	6.793034	0.97841	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.47	3.52	0.40303	.	0.119623	0.37304	N	0.002149	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-2.9412	10.6595	0.45694	0.072:0.1325:0.7955:0.0	.	.	.	.	X	1113;1083	.	ENSP00000370870:Q1083X	Q	-	1	0	KIAA2026	5912659	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.338000	0.79269	1.310000	0.45006	0.561000	0.74099	CAG		0.373	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		27	100	0	0	0	0	27	100				
TESK1	7016	broad.mit.edu	37	9	35605991	35605991	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:35605991G>C	ENST00000336395.5	+	2	480	c.230G>C	c.(229-231)cGa>cCa	p.R77P	MIR4667_ENST00000578933.1_RNA|TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	77	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	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)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTTCGGCACCGACAGTCAGGG	0.672																																						uc003zxa.2		NA																	0				stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7						c.(229-231)CGA>CCA		testis-specific protein kinase 1							44.0	41.0	42.0					9																	35605991		2203	4300	6503	SO:0001583	missense	7016				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr9:35605991G>C	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.230G>C	9.37:g.35605991G>C	ENSP00000338127:p.Arg77Pro					TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_5'UTR	p.R77P	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		2	566	+			77			Protein kinase.		Q8IXZ8	Missense_Mutation	SNP	ENST00000336395.5	37	c.230G>C	CCDS6580.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300116	0.81136	.	.	ENSG00000107140	ENST00000336395	T	0.66815	-0.23	4.46	3.56	0.40772	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32106	N	0.006566	T	0.75989	0.3925	L	0.53617	1.68	0.50313	D	0.999864	D	0.89917	1.0	D	0.79108	0.992	T	0.77528	-0.2554	10	0.87932	D	0	-3.2681	11.5318	0.50614	0.0867:0.0:0.9133:0.0	.	77	Q15569	TESK1_HUMAN	P	77	ENSP00000338127:R77P	ENSP00000338127:R77P	R	+	2	0	TESK1	35595991	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.505000	0.66981	1.083000	0.41159	0.643000	0.83706	CGA		0.672	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285		5	71	0	0	0	0	5	71				
TESK1	7016	broad.mit.edu	37	9	35606017	35606017	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:35606017A>C	ENST00000336395.5	+	2	506	c.256A>C	c.(256-258)Aag>Cag	p.K86Q	MIR4667_ENST00000578933.1_RNA|TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	86	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	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)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CATGGTGCTGAAGATGAACAA	0.657																																						uc003zxa.2		NA																	0				stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7						c.(256-258)AAG>CAG		testis-specific protein kinase 1							63.0	57.0	59.0					9																	35606017		2203	4300	6503	SO:0001583	missense	7016				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr9:35606017A>C	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.256A>C	9.37:g.35606017A>C	ENSP00000338127:p.Lys86Gln					TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_5'UTR	p.K86Q	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		2	592	+			86			Protein kinase.	ATP (By similarity).	Q8IXZ8	Missense_Mutation	SNP	ENST00000336395.5	37	c.256A>C	CCDS6580.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.939435	0.92526	.	.	ENSG00000107140	ENST00000336395	T	0.72615	-0.67	4.46	4.46	0.54185	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.335552	0.21479	N	0.073867	D	0.86360	0.5914	M	0.91510	3.215	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.89127	0.3507	10	0.87932	D	0	-2.4412	13.0795	0.59104	1.0:0.0:0.0:0.0	.	86	Q15569	TESK1_HUMAN	Q	86	ENSP00000338127:K86Q	ENSP00000338127:K86Q	K	+	1	0	TESK1	35596017	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.030000	0.93725	1.856000	0.53863	0.523000	0.50628	AAG		0.657	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285		5	70	0	0	0	0	5	70				
FBXO10	26267	broad.mit.edu	37	9	37531963	37531963	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:37531963A>C	ENST00000432825.2	-	4	1560	c.1512T>G	c.(1510-1512)atT>atG	p.I504M	FBXO10_ENST00000541829.1_Missense_Mutation_p.I29M|RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000543968.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	504					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CATTGTGGTAAATGTTGTTGC	0.502																																						uc004aab.2		NA																	0				lung(5)	5						c.(1510-1512)ATT>ATG		F-box protein 10							91.0	91.0	91.0					9																	37531963		1980	4161	6141	SO:0001583	missense	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37531963A>C	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.1512T>G	9.37:g.37531963A>C	ENSP00000403802:p.Ile504Met					FBXO10_uc004aac.2_Missense_Mutation_p.I520M|FBXO10_uc004aad.2_Missense_Mutation_p.I54M	p.I504M	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	4	1561	-			504			PbH1 6.		Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	c.1512T>G	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.279934	0.80692	.	.	ENSG00000147912	ENST00000432825;ENST00000541829	T;T	0.81330	-1.48;0.57	5.45	-6.45	0.01914	Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);Pectin lyase fold (1);	0.000000	0.85682	D	0.000000	D	0.87358	0.6157	M	0.89030	3	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.999;0.999	D	0.86721	0.1942	10	0.87932	D	0	-18.5897	10.4039	0.44246	0.3206:0.0:0.5683:0.1111	.	383;29;504	Q59F51;Q08AL4;Q9UK96	.;.;FBX10_HUMAN	M	504;29	ENSP00000403802:I504M;ENSP00000441307:I29M	ENSP00000276960:I504M	I	-	3	3	FBXO10	37521963	0.849000	0.29639	0.907000	0.35723	0.988000	0.76386	-0.094000	0.11094	-1.082000	0.03101	0.379000	0.24179	ATT		0.502	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			15	45	0	0	0	0	15	45				
TMC1	117531	broad.mit.edu	37	9	75441857	75441857	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:75441857C>G	ENST00000297784.5	+	21	2616	c.2076C>G	c.(2074-2076)atC>atG	p.I692M	TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Missense_Mutation_p.I692M|TMC1_ENST00000396237.3_Missense_Mutation_p.I692M	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	692					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						TGGCGAAGATCTTGAGACAGC	0.463																																					Pancreas(75;173 1345 14232 34245 43413)	uc004aiz.1		NA																	0				ovary(1)	1						c.(2074-2076)ATC>ATG		transmembrane channel-like 1							289.0	259.0	269.0					9																	75441857		2203	4300	6503	SO:0001583	missense	117531				sensory perception of sound	integral to membrane		g.chr9:75441857C>G	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.2076C>G	9.37:g.75441857C>G	ENSP00000297784:p.Ile692Met					TMC1_uc010moz.1_Missense_Mutation_p.I650M|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.I546M|TMC1_uc010mpa.1_Missense_Mutation_p.I546M	p.I692M	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN			21	2616	+			692			Extracellular (Potential).		A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	c.2076C>G	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.642034	0.47153	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000542143;ENST00000396237	T;T;T	0.70164	-0.46;-0.46;-0.46	5.49	1.46	0.22682	.	0.065739	0.64402	D	0.000009	T	0.63105	0.2483	L	0.54323	1.7	0.28528	N	0.912704	P;P;P	0.49090	0.919;0.919;0.628	P;P;P	0.50537	0.635;0.635;0.643	T	0.59080	-0.7521	10	0.66056	D	0.02	-23.7242	3.8551	0.08971	0.3725:0.3232:0.0:0.3044	.	659;659;692	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	M	692;692;659;659;686;692	ENSP00000297784:I692M;ENSP00000341433:I692M;ENSP00000379538:I692M	ENSP00000297784:I692M	I	+	3	3	TMC1	74631677	0.001000	0.12720	0.987000	0.45799	0.746000	0.42486	-1.578000	0.02125	0.098000	0.17522	0.650000	0.86243	ATC		0.463	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			47	151	0	0	0	0	47	151				
SPATA31D1	389763	broad.mit.edu	37	9	84607429	84607429	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:84607429G>A	ENST00000344803.2	+	4	2091	c.2044G>A	c.(2044-2046)Gag>Aag	p.E682K		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	682					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ACTCAGCTCTGAGGTAAGGAA	0.507																																						uc004amn.2		NA																	0					0						c.(2044-2046)GAG>AAG		hypothetical protein LOC389763							95.0	93.0	93.0					9																	84607429		1860	4092	5952	SO:0001583	missense	389763					integral to membrane		g.chr9:84607429G>A		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.2044G>A	9.37:g.84607429G>A	ENSP00000341988:p.Glu682Lys						p.E682K	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	2091	+			682						Missense_Mutation	SNP	ENST00000344803.2	37	c.2044G>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233877	0.58886	.	.	ENSG00000214929	ENST00000344803	T	0.10288	2.89	3.51	3.51	0.40186	.	0.657184	0.14122	N	0.339952	T	0.33323	0.0859	M	0.83223	2.63	0.09310	N	1	D	0.57257	0.979	D	0.70016	0.967	T	0.03898	-1.0994	10	0.66056	D	0.02	-13.0283	10.7259	0.46068	0.0:0.0:1.0:0.0	.	682	Q6ZQQ2	F75D1_HUMAN	K	682	ENSP00000341988:E682K	ENSP00000341988:E682K	E	+	1	0	FAM75D1	83797249	0.078000	0.21339	0.020000	0.16555	0.006000	0.05464	1.503000	0.35715	1.978000	0.57642	0.561000	0.74099	GAG		0.507	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		15	85	0	0	0	0	15	85				
AGTPBP1	23287	broad.mit.edu	37	9	88247624	88247624	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:88247624C>T	ENST00000357081.3	-	14	2112	c.1968G>A	c.(1966-1968)ccG>ccA	p.P656P	AGTPBP1_ENST00000432218.1_Silent_p.P494P|AGTPBP1_ENST00000376083.3_Silent_p.P616P|AGTPBP1_ENST00000376109.3_Silent_p.P668P|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	656					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TGAATGGAGGCGGAATGTGAC	0.403																																						uc011ltd.1		NA																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(1966-1968)CCG>CCA		ATP/GTP binding protein 1							72.0	72.0	72.0					9																	88247624		2203	4300	6503	SO:0001819	synonymous_variant	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88247624C>T	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.1968G>A	9.37:g.88247624C>T						AGTPBP1_uc004aod.3_Silent_p.P282P|AGTPBP1_uc011ltc.1_Silent_p.P554P|AGTPBP1_uc010mqc.2_Silent_p.P616P|AGTPBP1_uc011lte.1_Silent_p.P668P	p.P656P	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN			13	2001	-			656					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	ENST00000357081.3	37	c.1968G>A																																																																																					0.403	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		11	56	0	0	0	0	11	56				
SPATA31C1	441452	broad.mit.edu	37	9	90537484	90537484	+	RNA	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:90537484G>C	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCTCCTTCCAGATGGGCAAGC	0.552																																						uc010mqi.2		NA																	0					0						c.(2662-2664)GAT>CAT		family with sequence similarity 75, member C1							11.0	13.0	13.0					9																	90537484		692	1589	2281			441452							g.chr9:90537484G>C	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90537484G>C						FAM75C1_uc004apq.3_Missense_Mutation_p.D871H	p.D888H	NM_001145124	NP_001138596					4	2691	+									Missense_Mutation	SNP	ENST00000602681.1	37	c.2662G>C																																																																																					0.552	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		6	157	0	0	0	0	6	157				
WDR31	114987	broad.mit.edu	37	9	116079162	116079162	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:116079162C>G	ENST00000374193.4	-	11	1217	c.971G>C	c.(970-972)gGa>gCa	p.G324A	WDR31_ENST00000374195.3_Missense_Mutation_p.G199A|WDR31_ENST00000341761.4_Missense_Mutation_p.G323A|WDR31_ENST00000461942.1_5'UTR	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	324										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						GGGTCCTGATCCATCCAGAGA	0.483																																						uc004bhe.2		NA																	0					0						c.(970-972)GGA>GCA		WD repeat domain 31 isoform 1							72.0	67.0	69.0					9																	116079162		2203	4300	6503	SO:0001583	missense	114987							g.chr9:116079162C>G	BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225		"""WD repeat domain containing"""	21421	protein-coding gene	gene with protein product	"""similar to spermatid WD-repeat protein"""						Standard	NM_145241		Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.971G>C	9.37:g.116079162C>G	ENSP00000363308:p.Gly324Ala					uc004bhb.2_5'Flank|WDR31_uc004bhc.2_Missense_Mutation_p.G323A|WDR31_uc004bhd.2_Missense_Mutation_p.G199A|WDR31_uc004bhf.2_RNA	p.G324A	NM_001012361	NP_001012361	Q8NA23	WDR31_HUMAN			11	1223	-			324					Q5W0T9|Q96EG8	Missense_Mutation	SNP	ENST00000374193.4	37	c.971G>C	CCDS35110.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587530	0.86851	.	.	ENSG00000148225	ENST00000374193;ENST00000374195;ENST00000341761	T;T;T	0.06608	3.28;3.28;3.28	5.99	5.99	0.97316	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.24851	0.0603	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.00849	-1.1541	10	0.19590	T	0.45	-17.948	19.4659	0.94939	0.0:1.0:0.0:0.0	.	324;323	Q8NA23;Q8NA23-2	WDR31_HUMAN;.	A	324;199;323	ENSP00000363308:G324A;ENSP00000363310:G199A;ENSP00000345027:G323A	ENSP00000345027:G323A	G	-	2	0	WDR31	115118983	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.233000	0.72320	2.840000	0.97914	0.655000	0.94253	GGA		0.483	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053734.2	NM_145241		17	32	0	0	0	0	17	32				
ZNF618	114991	broad.mit.edu	37	9	116812166	116812166	+	Missense_Mutation	SNP	G	G	A	rs372290471		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:116812166G>A	ENST00000374126.5	+	15	2683	c.2584G>A	c.(2584-2586)Gca>Aca	p.A862T	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000288466.7_Missense_Mutation_p.A769T			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	862					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)|endometrium(4)|lung(10)|urinary_tract(1)	16						CGAGAACCCCGCAGCTCAGGA	0.597																																						uc004bid.2		NA																	0					0						c.(2584-2586)GCA>ACA		zinc finger protein 618		G	THR/ALA	1,3961		0,1,1980	74.0	81.0	79.0		2305	-8.4	0.0	9		79	0,8282		0,0,4141	no	missense	ZNF618	NM_133374.2	58	0,1,6121	AA,AG,GG		0.0,0.0252,0.0082	benign	769/862	116812166	1,12243	1981	4141	6122	SO:0001583	missense	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116812166G>A	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.2584G>A	9.37:g.116812166G>A	ENSP00000363241:p.Ala862Thr					ZNF618_uc004bic.2_Missense_Mutation_p.A769T|ZNF618_uc011lxi.1_Missense_Mutation_p.A829T|ZNF618_uc011lxj.1_Missense_Mutation_p.A830T|ZNF618_uc010mvb.2_Missense_Mutation_p.A452T	p.A862T	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN			15	2683	+			862					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37	c.2584G>A		.	.	.	.	.	.	.	.	.	.	G	4.045	0.006041	0.07866	2.52E-4	0.0	ENSG00000157657	ENST00000374126;ENST00000288466	T;T	0.22743	1.94;1.94	5.63	-8.45	0.00946	Ribonuclease H-like (1);	0.899482	0.09826	N	0.750823	T	0.06462	0.0166	.	.	.	0.09310	N	0.99999	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.36335	-0.9752	9	0.11485	T	0.65	0.0314	4.7216	0.12920	0.4829:0.1097:0.3256:0.0818	.	829;862;769	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	T	862;769	ENSP00000363241:A862T;ENSP00000288466:A769T	ENSP00000288466:A769T	A	+	1	0	ZNF618	115851987	0.000000	0.05858	0.001000	0.08648	0.390000	0.30446	-1.955000	0.01523	-1.088000	0.03077	-0.997000	0.02515	GCA		0.597	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		6	108	0	0	0	0	6	108				
LRSAM1	90678	broad.mit.edu	37	9	130263293	130263293	+	Silent	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:130263293G>A	ENST00000323301.4	+	24	2521	c.1917G>A	c.(1915-1917)ctG>ctA	p.L639L	LRSAM1_ENST00000373322.1_Silent_p.L639L|LRSAM1_ENST00000373324.4_Silent_p.L612L|LRSAM1_ENST00000300417.6_Silent_p.L639L|LRSAM1_ENST00000483302.1_3'UTR	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	639					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CCACAGAGCTGAAACCACCAA	0.647																																						uc004brb.1		NA																	0					0						c.(1915-1917)CTG>CTA		leucine rich repeat and sterile alpha motif							73.0	77.0	75.0					9																	130263293		2203	4300	6503	SO:0001819	synonymous_variant	90678				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:130263293G>A	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1917G>A	9.37:g.130263293G>A						LRSAM1_uc010mxk.1_Silent_p.L612L|LRSAM1_uc004brc.1_Silent_p.L639L|LRSAM1_uc004brd.1_Silent_p.L639L|LRSAM1_uc004bre.1_Silent_p.L219L|LRSAM1_uc004brg.1_Silent_p.L70L	p.L639L	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN			25	2262	+			639					Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Silent	SNP	ENST00000323301.4	37	c.1917G>A	CCDS6873.1																																																																																				0.647	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361		20	71	0	0	0	0	20	71				
FAM129B	64855	broad.mit.edu	37	9	130270171	130270171	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:130270171C>G	ENST00000373312.3	-	13	1842	c.1629G>C	c.(1627-1629)caG>caC	p.Q543H	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.Q530H	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	543					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TCATGACGGTCTGCAGCACCA	0.642																																						uc004brh.2		NA																	0					0						c.(1627-1629)CAG>CAC		hypothetical protein LOC64855 isoform 1							120.0	105.0	110.0					9																	130270171		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130270171C>G	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1629G>C	9.37:g.130270171C>G	ENSP00000362409:p.Gln543His					FAM129B_uc004bri.2_Missense_Mutation_p.Q530H|FAM129B_uc004brj.3_3'UTR	p.Q543H	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN			13	1831	-			543					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.1629G>C	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178152	0.57692	.	.	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.27256	1.68;1.68	5.44	4.53	0.55603	.	0.106709	0.64402	D	0.000003	T	0.26810	0.0656	L	0.53249	1.67	0.51012	D	0.999903	B;B	0.25850	0.136;0.136	B;B	0.26416	0.069;0.069	T	0.03898	-1.0994	10	0.45353	T	0.12	-38.5847	13.2672	0.60141	0.16:0.84:0.0:0.0	.	530;543	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	H	530;193;543	ENSP00000362411:Q530H;ENSP00000362409:Q543H	ENSP00000362409:Q543H	Q	-	3	2	FAM129B	129309992	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.781000	0.62389	1.269000	0.44280	0.561000	0.74099	CAG		0.642	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		13	95	0	0	0	0	13	95				
STKLD1	169436	broad.mit.edu	37	9	136260786	136260786	+	Silent	SNP	C	C	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr9:136260786C>A	ENST00000371957.3	+	9	869	c.762C>A	c.(760-762)gcC>gcA	p.A254A	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		254	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCCTGAAGGCCGTCCTGAAGA	0.557																																						uc004cdk.2		NA																	0				stomach(2)|central_nervous_system(2)	4						c.(760-762)GCC>GCA		hypothetical protein LOC169436							74.0	75.0	75.0					9																	136260786		2203	4300	6503	SO:0001819	synonymous_variant	169436						ATP binding|protein kinase activity	g.chr9:136260786C>A																												ENST00000371957.3:c.762C>A	9.37:g.136260786C>A						C9orf96_uc004cdl.2_RNA	p.A254A	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	9	823	+			254			Protein kinase.		Q5T8U8|Q6ZMP6|Q6ZMQ5	Silent	SNP	ENST00000371957.3	37	c.762C>A	CCDS35169.1																																																																																				0.557	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			29	66	1	0	3.65e-15	5.01e-15	29	66				
CXorf22	170063	broad.mit.edu	37	X	35974178	35974178	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chrX:35974178C>T	ENST00000297866.5	+	8	1341	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	425										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						AACCTTGTTTCATGGGTGAAC	0.363																																						uc004ddj.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(1273-1275)TTC>TTT		hypothetical protein LOC170063							80.0	76.0	78.0					X																	35974178		2202	4300	6502	SO:0001819	synonymous_variant	170063							g.chrX:35974178C>T	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.1275C>T	X.37:g.35974178C>T						CXorf22_uc010ngv.2_RNA	p.F425F	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			8	1334	+			425					Q5JRM8|Q8N6X8	Silent	SNP	ENST00000297866.5	37	c.1275C>T	CCDS14237.2																																																																																				0.363	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		17	15	0	0	0	0	17	15				
HUWE1	10075	broad.mit.edu	37	X	53618007	53618007	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chrX:53618007C>T	ENST00000342160.3	-	33	4505	c.4048G>A	c.(4048-4050)Gag>Aag	p.E1350K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E1350K|HUWE1_ENST00000218328.8_Missense_Mutation_p.E1350K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1350	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AAAAGGTACTCTGTGGCCTGC	0.498																																						uc004dsp.2		NA																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(4048-4050)GAG>AAG		HECT, UBA and WWE domain containing 1							177.0	139.0	152.0					X																	53618007		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53618007C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.4048G>A	X.37:g.53618007C>T	ENSP00000340648:p.Glu1350Lys					HUWE1_uc004dsn.2_Missense_Mutation_p.E175K	p.E1350K	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			34	4450	-			1350			UBA.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.4048G>A	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.465549|5.465549	0.96257|0.96257	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328|ENST00000427052	T;T;T|.	0.27104|.	1.69;1.69;1.69|.	5.63|5.63	5.63|5.63	0.86233|0.86233	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);Armadillo-like helical (1);UBA-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80116|0.80116	0.4564|0.4564	M|M	0.85299|0.85299	2.745|2.745	0.80722|0.80722	D|D	1|1	D;P|.	0.63880|.	0.993;0.955|.	D;P|.	0.65573|.	0.936;0.636|.	T|T	0.82092|0.82092	-0.0628|-0.0628	10|5	0.66056|.	D|.	0.02|.	.|.	17.352|17.352	0.87327|0.87327	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1350;1350|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	K|K	1350|383	ENSP00000340648:E1350K;ENSP00000262854:E1350K;ENSP00000218328:E1350K|.	ENSP00000218328:E1350K|.	E|R	-|-	1|2	0|0	HUWE1|HUWE1	53634732|53634732	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.360000|7.360000	0.79487|0.79487	2.366000|2.366000	0.80165|0.80165	0.600000|0.600000	0.82982|0.82982	GAG|AGA		0.498	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		14	11	0	0	0	0	14	11				
NHSL2	340527	broad.mit.edu	37	X	71359916	71359916	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chrX:71359916G>C	ENST00000373677.1	+	2	2682	c.1420G>C	c.(1420-1422)Gag>Cag	p.E474Q	NHSL2_ENST00000510661.1_Missense_Mutation_p.E609Q|NHSL2_ENST00000540800.1_Missense_Mutation_p.E840Q|NHSL2_ENST00000535692.1_Missense_Mutation_p.E474Q			Q5HYW2	NHSL2_HUMAN	NHS-like 2	474										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CAGCAAGTCTGAGCCGGAAGA	0.522																																						uc011mqa.1		NA																	0					0						c.(2518-2520)GAG>CAG		NHS-like 2							65.0	57.0	60.0					X																	71359916		2203	4299	6502	SO:0001583	missense	340527							g.chrX:71359916G>C			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.1420G>C	X.37:g.71359916G>C	ENSP00000362781:p.Glu474Gln					NHSL2_uc004eak.1_Missense_Mutation_p.E474Q|NHSL2_uc010nli.2_Missense_Mutation_p.E609Q	p.E840Q	NM_001013627	NP_001013649	Q5HYW2	NHSL2_HUMAN			6	2518	+	Renal(35;0.156)		840					B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37	c.2518G>C		.	.	.	.	.	.	.	.	.	.	G	19.93	3.917347	0.73098	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.52526	1.3;0.66;0.69;0.66	5.65	5.65	0.86999	.	0.130096	0.49916	N	0.000140	T	0.67258	0.2874	M	0.68593	2.085	0.54753	D	0.999982	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.983;0.988;0.988	T	0.69555	-0.5114	10	0.87932	D	0	-11.7322	15.7857	0.78300	0.0:0.0:1.0:0.0	.	840;609;474	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	Q	840;474;609;474	ENSP00000444617:E840Q;ENSP00000362781:E474Q;ENSP00000424079:E609Q;ENSP00000444914:E474Q	ENSP00000362781:E474Q	E	+	1	0	NHSL2	71276641	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.802000	0.85969	2.618000	0.88619	0.600000	0.82982	GAG		0.522	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		7	15	0	0	0	0	7	15				
ELF4	2000	broad.mit.edu	37	X	129201444	129201444	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chrX:129201444G>A	ENST00000308167.5	-	9	1623	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L	ELF4_ENST00000335997.7_Missense_Mutation_p.S415L	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GGTCAGGGCCGAGCCCGACCC	0.587			T	ERG	AML																																	uc004evd.3		NA		Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				ovary(1)	1						c.(1243-1245)TCG>TTG		E74-like factor 4							56.0	55.0	55.0					X																	129201444		2203	4300	6503	SO:0001583	missense	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129201444G>A	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1244C>T	X.37:g.129201444G>A	ENSP00000311280:p.Ser415Leu					ELF4_uc004eve.3_Missense_Mutation_p.S415L	p.S415L	NM_001421	NP_001412	Q99607	ELF4_HUMAN			9	1629	-			415						Missense_Mutation	SNP	ENST00000308167.5	37	c.1244C>T	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	g	16.19	3.054344	0.55218	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	T;T	0.21932	1.98;1.98	4.8	4.8	0.61643	.	0.716258	0.12479	N	0.465307	T	0.34106	0.0886	L	0.32530	0.975	0.36063	D	0.841607	D	0.89917	1.0	D	0.67103	0.949	T	0.30357	-0.9981	10	0.66056	D	0.02	.	11.9923	0.53182	0.0:0.0:1.0:0.0	.	415	Q99607	ELF4_HUMAN	L	415	ENSP00000338608:S415L;ENSP00000311280:S415L	ENSP00000311280:S415L	S	-	2	0	ELF4	129029125	1.000000	0.71417	0.365000	0.25901	0.401000	0.30781	3.228000	0.51270	2.217000	0.71921	0.509000	0.49947	TCG		0.587	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		25	38	0	0	0	0	25	38				
ARHGEF6	9459	broad.mit.edu	37	X	135795499	135795499	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chrX:135795499C>T	ENST00000250617.6	-	7	1968	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	ARHGEF6_ENST00000535227.1_Missense_Mutation_p.E128K|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.E101K|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.E101K	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	255	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E255*(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TTAGCATATTCTTTTTCAGTG	0.328																																						uc004fab.2		NA																	1	Substitution - Nonsense(1)		large_intestine(1)		0						c.(763-765)GAA>AAA		Rac/Cdc42 guanine nucleotide exchange factor 6							133.0	117.0	123.0					X																	135795499		2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135795499C>T	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.763G>A	X.37:g.135795499C>T	ENSP00000250617:p.Glu255Lys					ARHGEF6_uc011mwd.1_Missense_Mutation_p.E128K|ARHGEF6_uc011mwe.1_Missense_Mutation_p.E101K	p.E255K	NM_004840	NP_004831	Q15052	ARHG6_HUMAN			7	1225	-	Acute lymphoblastic leukemia(192;0.000127)		255			DH.		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.763G>A	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620162	0.66787	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.85	5.85	0.93711	Dbl homology (DH) domain (5);	0.229594	0.51477	D	0.000088	T	0.62171	0.2406	L	0.55103	1.725	0.48762	D	0.999705	B;B	0.22541	0.021;0.071	B;B	0.36989	0.032;0.238	T	0.58691	-0.7592	10	0.32370	T	0.25	.	11.2928	0.49261	0.0:0.9139:0.0:0.0861	.	128;255	B7Z3C7;Q15052	.;ARHG6_HUMAN	K	255;101;101;101;128	ENSP00000250617:E255K;ENSP00000359654:E101K;ENSP00000359656:E101K;ENSP00000439483:E128K	ENSP00000250617:E255K	E	-	1	0	ARHGEF6	135623165	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	5.223000	0.65283	2.464000	0.83262	0.513000	0.50165	GAA		0.328	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		24	28	0	0	0	0	24	28				
PNCK	139728	broad.mit.edu	37	X	152936781	152936781	+	Silent	SNP	C	C	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chrX:152936781C>T	ENST00000370150.1	-	7	751	c.573G>A	c.(571-573)aaG>aaA	p.K191K	PNCK_ENST00000393831.2_Silent_p.K214K|PNCK_ENST00000370142.1_Silent_p.K214K|PNCK_ENST00000447676.2_Silent_p.K274K|PNCK_ENST00000340888.3_Silent_p.K191K|PNCK_ENST00000370145.4_Silent_p.K208K|PNCK_ENST00000475172.1_5'Flank			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	191	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATCTACGGCCTTCCCGTAGG	0.642																																						uc011myu.1		NA																	0				breast(1)	1						c.(820-822)AAG>AAA		pregnancy upregulated non-ubiquitously expressed							55.0	59.0	57.0					X																	152936781		2203	4300	6503	SO:0001819	synonymous_variant	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152936781C>T	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.573G>A	X.37:g.152936781C>T						PNCK_uc011myt.1_Silent_p.K208K|PNCK_uc004fia.2_Silent_p.K226K|PNCK_uc004fhz.3_Silent_p.K89K|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.1_3'UTR|PNCK_uc011myw.1_3'UTR	p.K274K	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN			7	1008	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		191			Protein kinase.		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Silent	SNP	ENST00000370150.1	37	c.822G>A																																																																																					0.642	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		4	38	0	0	0	0	4	38				
IGSF9	57549	broad.mit.edu	37	1	159912846	159912846	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:159912846delG	ENST00000368094.1	-	3	351	c.154delC	c.(154-156)ctgfs	p.L52fs	IGSF9_ENST00000361509.3_Frame_Shift_Del_p.L52fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	52	Ig-like 1.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGACATGCAgggggggccgg	0.637																																						uc001fur.2		NA																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)	5						c.(154-156)CTGfs		immunoglobulin superfamily, member 9 isoform a							28.0	33.0	31.0					1																	159912846		2203	4300	6503	SO:0001589	frameshift_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159912846delG	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.154delC	1.37:g.159912846delG	ENSP00000357073:p.Leu52fs					IGSF9_uc001fuq.2_Frame_Shift_Del_p.L52fs	p.L52fs	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	352	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	52			Ig-like 1.|Extracellular (Potential).			Frame_Shift_Del	DEL	ENST00000368094.1	37	c.154delC	CCDS44254.1																																																																																				0.637	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		10	62	NA	NA	NA	NA	10	62	---	---	---	---
FASLG	356	broad.mit.edu	37	1	172633495	172633495	+	Frame_Shift_Del	DEL	A	A	-	rs368143171|rs35774809		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr1:172633495delA	ENST00000367721.2	+	3	600	c.416delA	c.(415-417)gaafs	p.E139fs	FASLG_ENST00000340030.3_Frame_Shift_Del_p.K125fs	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	139					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cellular chloride ion homeostasis (GO:0030644)|endosomal lumen acidification (GO:0048388)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|immune response (GO:0006955)|inflammatory cell apoptotic process (GO:0006925)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of angiogenesis (GO:0016525)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to growth factor (GO:0070848)|response to lipopolysaccharide (GO:0032496)|retinal cell programmed cell death (GO:0046666)|signal transduction (GO:0007165)|T cell apoptotic process (GO:0070231)|transcription, DNA-templated (GO:0006351)	caveola (GO:0005901)|cytoplasmic membrane-bounded vesicle (GO:0016023)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						CCACCCCCTGAAAAAAAGGAG	0.408																																					Ovarian(28;486 876 30334 44033)	uc001gis.2		NA																	0				lung(2)|breast(1)	3						c.(415-417)GAAfs		fas ligand							57.0	56.0	56.0					1																	172633495		2203	4300	6503	SO:0001589	frameshift_variant	356				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	g.chr1:172633495delA	U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11936	protein-coding gene	gene with protein product		134638	"""tumor necrosis factor (ligand) superfamily, member 6"""	APT1LG1, TNFSF6		7826947, 9022072	Standard	NM_000639		Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.416delA	1.37:g.172633495delA	ENSP00000356694:p.Glu139fs					FASLG_uc001git.2_Frame_Shift_Del_p.K124fs	p.E139fs	NM_000639	NP_000630	P48023	TNFL6_HUMAN			3	573	+			139			Extracellular (Potential).		Q9BZP9	Frame_Shift_Del	DEL	ENST00000367721.2	37	c.416delA	CCDS1304.1																																																																																				0.408	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084276.1			7	39	NA	NA	NA	NA	7	39	---	---	---	---
LCOR	84458	broad.mit.edu	37	10	98715469	98715469	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr10:98715469delA	ENST00000371097.4	+	8	1638	c.1092delA	c.(1090-1092)ggafs	p.G364fs	LCOR_ENST00000371103.3_Frame_Shift_Del_p.G364fs|LCOR_ENST00000540664.1_Frame_Shift_Del_p.G364fs|LCOR_ENST00000356016.3_Frame_Shift_Del_p.G364fs|LCOR_ENST00000498444.1_Intron			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	364	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		TTATGAGTGGAAAAATGAGTG	0.468																																						uc001kms.1		NA																	0				ovary(3)	3						c.(1090-1092)GGAfs		ligand dependent nuclear receptor corepressor							66.0	67.0	67.0					10																	98715469		2203	4300	6503	SO:0001589	frameshift_variant	84458					nucleus	DNA binding	g.chr10:98715469delA		CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.1092delA	10.37:g.98715469delA	ENSP00000360138:p.Gly364fs					LCOR_uc001kmr.2_Frame_Shift_Del_p.G364fs|C10orf12_uc009xvg.1_Intron|LCOR_uc001kmt.1_Frame_Shift_Del_p.G364fs|LCOR_uc001kmu.1_Frame_Shift_Del_p.G364fs	p.G364fs	NM_032440	NP_115816	Q96JN0	LCOR_HUMAN		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)	8	1613	+		Colorectal(252;0.162)	364			HTH psq-type.		D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Frame_Shift_Del	DEL	ENST00000371097.4	37	c.1092delA	CCDS7451.1																																																																																				0.468	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049628.2			9	57	NA	NA	NA	NA	9	57	---	---	---	---
SIRT3	23410	broad.mit.edu	37	11	236149	236149	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:236149delG	ENST00000382743.4	-	1	282	c.180delC	c.(178-180)cccfs	p.P60fs	PSMD13_ENST00000431206.2_5'Flank|SIRT3_ENST00000529382.1_Intron|PSMD13_ENST00000352303.5_5'Flank|SIRT3_ENST00000528702.1_Intron|SIRT3_ENST00000525319.1_Intron|SIRT3_ENST00000524564.1_Frame_Shift_Del_p.P60fs|PSMD13_ENST00000532097.1_5'Flank|SIRT3_ENST00000532956.1_Frame_Shift_Del_p.P60fs	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	60					aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		CCGGGTCCAAGGGCTCACCGC	0.701																																						uc001lok.3		NA																	0				urinary_tract(1)	1						c.(178-180)CCCfs		sirtuin 3 isoform a							9.0	11.0	10.0					11																	236149		2160	4242	6402	SO:0001589	frameshift_variant	23410				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	g.chr11:236149delG	AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3"", ""sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"""			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.180delC	11.37:g.236149delG	ENSP00000372191:p.Pro60fs					SIRT3_uc001loj.3_Intron|SIRT3_uc010qvm.1_Frame_Shift_Del_p.P60fs|SIRT3_uc010qvn.1_Intron|SIRT3_uc010qvo.1_Frame_Shift_Del_p.P60fs|SIRT3_uc010qvp.1_Frame_Shift_Del_p.P60fs|SIRT3_uc010qvq.1_Intron|SIRT3_uc009ybt.1_Intron|PSMD13_uc010qvr.1_5'Flank|PSMD13_uc001lol.2_5'Flank|PSMD13_uc001loo.2_5'Flank|PSMD13_uc001lon.2_5'Flank|PSMD13_uc001lom.2_5'Flank	p.P60fs	NM_012239	NP_036371	Q9NTG7	SIRT3_HUMAN		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)	1	214	-		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	60					B7Z5U6|Q9Y6E8	Frame_Shift_Del	DEL	ENST00000382743.4	37	c.180delC	CCDS7691.1																																																																																				0.701	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239288.3			2	4	NA	NA	NA	NA	2	4	---	---	---	---
ILK	3611	broad.mit.edu	37	11	6629392	6629392	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:6629392delC	ENST00000396751.2	+	2	662	c.206delC	c.(205-207)accfs	p.T69fs	ILK_ENST00000299421.4_Frame_Shift_Del_p.T69fs|RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000528995.1_Frame_Shift_Del_p.T69fs|ILK_ENST00000537806.1_Intron|ILK_ENST00000420936.2_Frame_Shift_Del_p.T69fs	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	69	Interaction with LIMS1.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.L71fs*26(1)		central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		GGGGATGACACCCCCCTGCAT	0.557																																						uc001mee.2		NA																	1	Deletion - Frameshift(1)		ovary(1)	central_nervous_system(1)	1						c.(205-207)ACCfs		integrin-linked kinase							98.0	87.0	91.0					11																	6629392		2201	4296	6497	SO:0001589	frameshift_variant	3611				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity	g.chr11:6629392delC	U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"""Ankyrin repeat domain containing"""	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.206delC	11.37:g.6629392delC	ENSP00000379975:p.Thr69fs					ILK_uc001mef.2_Frame_Shift_Del_p.T69fs|ILK_uc010rap.1_Intron|ILK_uc010raq.1_Frame_Shift_Del_p.T69fs|ILK_uc001meg.2_5'UTR|ILK_uc001meh.2_Frame_Shift_Del_p.T69fs|ILK_uc001mei.2_5'Flank	p.T69fs	NM_001014794	NP_001014794	Q13418	ILK_HUMAN		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)	3	341	+		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)	69			Interaction with LIMS1.|ANK 3.		B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Frame_Shift_Del	DEL	ENST00000396751.2	37	c.206delC	CCDS7768.1																																																																																				0.557	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384519.1	NM_004517		14	52	NA	NA	NA	NA	14	52	---	---	---	---
CCDC73	493860	broad.mit.edu	37	11	32635181	32635181	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:32635181delT	ENST00000335185.5	-	16	2726	c.2683delA	c.(2683-2685)actfs	p.T895fs	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	895										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)					GTTTTCTCAGTTTTTTTATCT	0.403																																						uc001mtv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2683-2685)ACTfs		sarcoma antigen NY-SAR-79							125.0	120.0	121.0					11																	32635181		1807	4071	5878	SO:0001589	frameshift_variant	493860							g.chr11:32635181delT	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.2683delA	11.37:g.32635181delT	ENSP00000335325:p.Thr895fs						p.T895fs	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN			16	2727	-	Breast(20;0.112)		895					Q6P5Q7|Q6ZMW0|Q86WE7	Frame_Shift_Del	DEL	ENST00000335185.5	37	c.2683delA	CCDS41630.1																																																																																				0.403	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		13	101	NA	NA	NA	NA	13	101	---	---	---	---
FOLR1	2348	broad.mit.edu	37	11	71903275	71903275	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:71903275delG	ENST00000393679.1	+	2	494	c.58delG	c.(58-60)gggfs	p.G20fs	FOLR1_ENST00000393676.3_Frame_Shift_Del_p.G20fs|FOLR1_ENST00000312293.4_Frame_Shift_Del_p.G20fs|FOLR1_ENST00000393681.2_Frame_Shift_Del_p.G20fs|RP11-807H22.7_ENST00000378140.3_RNA			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	20					cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	GGCTGTAGTAGGGGAGGCTCA	0.552																																						uc001orz.1		NA																	0				ovary(1)	1						c.(58-60)GGGfs		folate receptor 1 precursor							131.0	115.0	121.0					11																	71903275		2200	4293	6493	SO:0001589	frameshift_variant	2348				cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71903275delG	J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.58delG	11.37:g.71903275delG	ENSP00000377284:p.Gly20fs					FOLR1_uc001osa.1_Frame_Shift_Del_p.G20fs|FOLR1_uc001osb.1_Frame_Shift_Del_p.G20fs|FOLR1_uc001osc.1_Frame_Shift_Del_p.G20fs|FOLR1_uc001osd.1_Frame_Shift_Del_p.G20fs	p.G20fs	NM_016724	NP_057936	P15328	FOLR1_HUMAN			3	196	+			20					Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Frame_Shift_Del	DEL	ENST00000393679.1	37	c.58delG	CCDS8211.1																																																																																				0.552	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396773.1	NM_016725		18	129	NA	NA	NA	NA	18	129	---	---	---	---
YAP1	10413	broad.mit.edu	37	11	101981721	101981721	+	Frame_Shift_Del	DEL	C	C	-	rs564561654		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr11:101981721delC	ENST00000282441.5	+	1	530	c.142delC	c.(142-144)cccfs	p.P49fs	YAP1_ENST00000537274.1_Frame_Shift_Del_p.P49fs|YAP1_ENST00000531439.1_Frame_Shift_Del_p.P49fs|YAP1_ENST00000345877.2_Frame_Shift_Del_p.P49fs|YAP1_ENST00000526343.1_Frame_Shift_Del_p.P49fs|RP11-732A21.2_ENST00000566440.1_RNA|YAP1_ENST00000524575.1_5'Flank	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	49	Pro-rich.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.A50fs*62(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		GCCGCAGGCACCCCCCGCCGG	0.761																																					Colon(50;247 1103 7861 28956)	uc001pgt.2		NA																	1	Insertion - Frameshift(1)		large_intestine(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(142-144)CCCfs		Yes-associated protein 1, 65kDa isoform 1			,,	8,3940		2,4,1968	5.0	7.0	6.0		,,	-2.4	0.6	11		6	32,7666		8,16,3825	no	frameshift,frameshift,frameshift	YAP1	NM_006106.4,NM_001195044.1,NM_001130145.2	,,	10,20,5793	A1A1,A1R,RR		0.4157,0.2026,0.3435	,,	,,	101981721	40,11606	2092	4092	6184	SO:0001589	frameshift_variant	10413				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr11:101981721delC		CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"""Yes-associated protein 1, 65kDa"""			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.142delC	11.37:g.101981721delC	ENSP00000282441:p.Pro49fs					YAP1_uc001pgs.2_Frame_Shift_Del_p.P48fs|YAP1_uc001pgu.2_Frame_Shift_Del_p.P48fs|YAP1_uc001pgv.2_Frame_Shift_Del_p.P48fs|YAP1_uc010ruo.1_5'Flank	p.P48fs	NM_001130145	NP_001123617	P46937	YAP1_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)	1	512	+	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	48			Pro-rich.		B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Frame_Shift_Del	DEL	ENST00000282441.5	37	c.142delC	CCDS44716.1																																																																																				0.761	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1	NM_006106		5	9	NA	NA	NA	NA	5	9	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26714879	26714879	+	Frame_Shift_Del	DEL	T	T	-	rs369274314		TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr12:26714879delT	ENST00000381340.3	-	35	5053	c.4637delA	c.(4636-4638)aatfs	p.N1546fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1546					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AATTCCACGATTTTTTGCTGA	0.318																																						uc001rhg.2		NA																	0				kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(4636-4638)AATfs		inositol 1,4,5-triphosphate receptor, type 2							41.0	39.0	40.0					12																	26714879		1815	4070	5885	SO:0001589	frameshift_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26714879delT	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.4637delA	12.37:g.26714879delT	ENSP00000370744:p.Asn1546fs						p.N1546fs	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			35	5054	-	Colorectal(261;0.0847)		1546			Cytoplasmic (Potential).		O94773	Frame_Shift_Del	DEL	ENST00000381340.3	37	c.4637delA	CCDS41764.1																																																																																				0.318	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		7	44	NA	NA	NA	NA	7	44	---	---	---	---
CHAMP1	283489	broad.mit.edu	37	13	115090767	115090767	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr13:115090767delT	ENST00000361283.1	+	3	1759	c.1450delT	c.(1450-1452)tttfs	p.F485fs		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	485	Mediates interaction with MAD2L2.|Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										GAAGTCTTCCTTTTTTATTGA	0.507																																						uc010ahb.2		NA																	0				ovary(2)	2						c.(1450-1452)TTTfs		zinc finger protein 828							190.0	224.0	213.0					13																	115090767		2203	4300	6503	SO:0001589	frameshift_variant	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115090767delT	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1450delT	13.37:g.115090767delT	ENSP00000354730:p.Phe485fs					ZNF828_uc001vuv.2_Frame_Shift_Del_p.F484fs|ZNF828_uc010tko.1_Frame_Shift_Del_p.F484fs	p.F484fs	NM_001164144	NP_001157616	Q96JM3	ZN828_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.104)	OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197)	3	1779	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_epithelial(44;0.122)|all_lung(25;0.123)	484			Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Mediates interaction with MAD2L2.|Pro-rich.		B3KU06|Q6P181|Q8NC88|Q9BST0	Frame_Shift_Del	DEL	ENST00000361283.1	37	c.1450delT	CCDS9545.1																																																																																				0.507	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		20	488	NA	NA	NA	NA	20	488	---	---	---	---
STRC	161497	broad.mit.edu	37	15	43910158	43910158	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:43910158delG	ENST00000450892.2	-	2	538	c.461delC	c.(460-462)cctfs	p.P154fs	STRC_ENST00000541030.1_5'UTR	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	154					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AGTTGGGGTAGGGGGGCCCCC	0.642																																						uc001zsf.2		NA																	0					0						c.(460-462)CCTfs		stereocilin precursor							53.0	77.0	69.0					15																	43910158		2196	4296	6492	SO:0001589	frameshift_variant	161497				sensory perception of sound	cell surface		g.chr15:43910158delG	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.461delC	15.37:g.43910158delG	ENSP00000401513:p.Pro154fs					STRC_uc010bdl.2_5'UTR|STRC_uc010udz.1_RNA|STRC_uc001zsg.1_Frame_Shift_Del_p.P80fs	p.P154fs	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	2	539	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	154						Frame_Shift_Del	DEL	ENST00000450892.2	37	c.461delC	CCDS10098.1																																																																																				0.642	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		13	128	NA	NA	NA	NA	13	128	---	---	---	---
SLTM	79811	broad.mit.edu	37	15	59186129	59186129	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr15:59186129delT	ENST00000380516.2	-	12	1626	c.1539delA	c.(1537-1539)aaafs	p.K513fs	SLTM_ENST00000536328.1_Frame_Shift_Del_p.K82fs|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	513					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCTTGCTTTCTTTTTTTTCAG	0.358																																						uc002afp.2		NA																	0				ovary(1)	1						c.(1537-1539)AAAfs		modulator of estrogen induced transcription							156.0	146.0	150.0					15																	59186129		2192	4292	6484	SO:0001589	frameshift_variant	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59186129delT	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1539delA	15.37:g.59186129delT	ENSP00000369887:p.Lys513fs					SLTM_uc002afn.2_Frame_Shift_Del_p.K82fs|SLTM_uc002afo.2_Frame_Shift_Del_p.K495fs|SLTM_uc002afq.2_Frame_Shift_Del_p.K82fs|SLTM_uc010bgd.2_Frame_Shift_Del_p.K82fs	p.K513fs	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN			12	1627	-			513					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Frame_Shift_Del	DEL	ENST00000380516.2	37	c.1539delA	CCDS10168.2																																																																																				0.358	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		8	82	NA	NA	NA	NA	8	82	---	---	---	---
ANKRD11	29123	broad.mit.edu	37	16	89352507	89352508	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr16:89352507_89352508insG	ENST00000301030.4	-	8	1291_1292	c.831_832insC	c.(829-834)cccacgfs	p.T278fs	ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.T278fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	278					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCACCATCGTGGGGGAGTTGG	0.574																																						uc002fmx.1		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(829-834)CCCACGfs		ankyrin repeat domain 11																																				SO:0001589	frameshift_variant	29123					nucleus		g.chr16:89352507_89352508insG	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.832dupC	16.37:g.89352512_89352512dupG	ENSP00000301030:p.Thr278fs					ANKRD11_uc002fmy.1_Frame_Shift_Ins_p.P277fs|ANKRD11_uc002fnc.1_Frame_Shift_Ins_p.P277fs|ANKRD11_uc002fnb.1_Frame_Shift_Ins_p.P234fs	p.P277fs	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	8	1292_1293	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	277_278			ANK 4.		Q6NTG1|Q6QMF8	Frame_Shift_Ins	INS	ENST00000301030.4	37	c.831_832insC	CCDS32513.1																																																																																				0.574	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		47	152	NA	NA	NA	NA	47	152	---	---	---	---
ABR	29	broad.mit.edu	37	17	1028559	1028559	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:1028559delC	ENST00000302538.5	-	2	351	c.205delG	c.(205-207)gatfs	p.D69fs	ABR_ENST00000574437.1_Frame_Shift_Del_p.D23fs|ABR_ENST00000544583.2_Frame_Shift_Del_p.D23fs	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	69					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GAGACGCCATCCCCCCCGCCC	0.677																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	uc002fsd.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(205-207)GATfs		active breakpoint cluster region-related							66.0	66.0	66.0					17																	1028559		2202	4300	6502	SO:0001589	frameshift_variant	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:1028559delC	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.205delG	17.37:g.1028559delC	ENSP00000303909:p.Asp69fs					ABR_uc002fse.2_Frame_Shift_Del_p.D23fs|ABR_uc010cjq.1_Frame_Shift_Del_p.D81fs	p.D69fs	NM_021962	NP_068781	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	2	315	-			69					B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Frame_Shift_Del	DEL	ENST00000302538.5	37	c.205delG	CCDS10999.1																																																																																				0.677	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			17	73	NA	NA	NA	NA	17	73	---	---	---	---
GPR179	440435	broad.mit.edu	37	17	36486166	36486166	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr17:36486166delG	ENST00000342292.4	-	11	3306	c.3286delC	c.(3286-3288)cgtfs	p.R1096fs	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1096					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTCCGAGAACGGGTCAGAGCT	0.612																																						uc002hpz.2		NA																	0				ovary(3)	3						c.(3286-3288)CGTfs		GPR158-like 1 precursor							53.0	58.0	56.0					17																	36486166		2003	4148	6151	SO:0001589	frameshift_variant	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36486166delG		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3286delC	17.37:g.36486166delG	ENSP00000345060:p.Arg1096fs						p.R1096fs	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	3307	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1096			Cytoplasmic (Potential).			Frame_Shift_Del	DEL	ENST00000342292.4	37	c.3286delC	CCDS42308.1																																																																																				0.612	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			15	57	NA	NA	NA	NA	15	57	---	---	---	---
NDC80	10403	broad.mit.edu	37	18	2578095	2578096	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr18:2578095_2578096delAC	ENST00000261597.4	+	5	613_614	c.431_432delAC	c.(430-432)gacfs	p.D144fs		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	144	Interaction with RB1.|Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						GAACTTCCTGACACAAAGTTTG	0.386																																						uc002kli.2		NA																	0				ovary(1)	1						c.(430-432)GACfs		kinetochore associated 2																																				SO:0001589	frameshift_variant	10403				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	g.chr18:2578095_2578096delAC	AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"""highly expressed in cancer, rich in leucine heptad repeats (yeast)"", ""kinetochore associated 2"", ""NDC80 kinetochore complex component homolog (S. cerevisiae)"""	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.431_432delAC	18.37:g.2578097_2578098delAC	ENSP00000261597:p.Asp144fs						p.D144fs	NM_006101	NP_006092	O14777	NDC80_HUMAN			5	613_614	+			144			Interaction with the N-terminus of CDCA1.|Nuclear localization.|Interaction with RB1.		Q6PJX2	Frame_Shift_Del	DEL	ENST00000261597.4	37	c.431_432delAC	CCDS11827.1																																																																																				0.386	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101		23	79	NA	NA	NA	NA	23	79	---	---	---	---
PTPN2	5771	broad.mit.edu	37	18	12814324	12814325	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr18:12814324_12814325insT	ENST00000309660.5	-	7	828_829	c.735_736insA	c.(733-738)aaacaafs	p.Q246fs	PTPN2_ENST00000591115.1_Frame_Shift_Ins_p.Q269fs|PTPN2_ENST00000591497.1_Frame_Shift_Ins_p.Q217fs|PTPN2_ENST00000353319.4_Frame_Shift_Ins_p.Q246fs|PTPN2_ENST00000327283.3_Frame_Shift_Ins_p.Q246fs	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	246	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|erythrocyte differentiation (GO:0030218)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemotaxis (GO:0050922)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of interleukin-2-mediated signaling pathway (GO:1902206)|negative regulation of interleukin-4-mediated signaling pathway (GO:1902215)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage colony-stimulating factor signaling pathway (GO:1902227)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of positive thymic T cell selection (GO:1902233)|negative regulation of prolactin signaling pathway (GO:1902212)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|negative regulation of tyrosine phosphorylation of Stat1 protein (GO:0042512)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|negative regulation of tyrosine phosphorylation of Stat6 protein (GO:0042527)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of gluconeogenesis (GO:0045722)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|syntaxin binding (GO:0019905)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				AGTAACACTTGTTTTATGTTAA	0.356																																						uc002krp.2		NA																	0				skin(2)	2						c.(733-738)AAACAAfs		protein tyrosine phosphatase, non-receptor type																																				SO:0001589	frameshift_variant	5771				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding	g.chr18:12814324_12814325insT	M25393	CCDS11863.1, CCDS11864.1, CCDS11865.1, CCDS59306.1	18p11.3-p11.2	2011-06-09			ENSG00000175354	ENSG00000175354		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9650	protein-coding gene	gene with protein product		176887		PTPT		2164224	Standard	NM_002828		Approved	TCELLPTP, TC-PTP, TCPTP	uc002krp.3	P17706	OTTHUMG00000131702	ENST00000309660.5:c.736dupA	18.37:g.12814328_12814328dupT	ENSP00000311857:p.Gln246fs					PTPN2_uc002krl.2_Frame_Shift_Ins_p.K245fs|PTPN2_uc002krn.2_Frame_Shift_Ins_p.K268fs|PTPN2_uc002kro.2_Frame_Shift_Ins_p.K245fs|PTPN2_uc002krm.2_Frame_Shift_Ins_p.K245fs	p.K245fs	NM_002828	NP_002819	P17706	PTN2_HUMAN			7	929_930	-		Lung NSC(161;8.94e-06)	245_246			Tyrosine-protein phosphatase.		A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Frame_Shift_Ins	INS	ENST00000309660.5	37	c.735_736insA	CCDS11865.1																																																																																				0.356	PTPN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254613.3	NM_002828, NM_080422, NM_080423		8	25	NA	NA	NA	NA	8	25	---	---	---	---
SPRED3	399473	broad.mit.edu	37	19	38885397	38885397	+	Frame_Shift_Del	DEL	C	C	-	rs142553701	byFrequency	TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr19:38885397delC	ENST00000338502.4	+	4	641	c.538delC	c.(538-540)cccfs	p.P181fs	SPRED3_ENST00000587013.1_Frame_Shift_Del_p.P225fs|SPRED3_ENST00000586301.1_Frame_Shift_Del_p.P181fs	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	181					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCGACCACGCCCCCCCAGCG	0.731																																						uc002oim.2		NA																	0				central_nervous_system(2)|lung(1)|skin(1)	4						c.(538-540)CCCfs		sprouty-related, EVH1 domain containing 3							5.0	7.0	7.0					19																	38885397		2016	4137	6153	SO:0001589	frameshift_variant	399473				multicellular organismal development			g.chr19:38885397delC		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.538delC	19.37:g.38885397delC	ENSP00000345405:p.Pro181fs						p.P180fs	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		4	542	+	all_cancers(60;3.4e-06)		180					Q2MJR1	Frame_Shift_Del	DEL	ENST00000338502.4	37	c.538delC	CCDS42560.1																																																																																				0.731	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1	XM_351191		4	9	NA	NA	NA	NA	4	9	---	---	---	---
GTF3C2	2976	broad.mit.edu	37	2	27559195	27559195	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr2:27559195delC	ENST00000359541.2	-	8	1654	c.1225delG	c.(1225-1227)gcafs	p.A409fs	AC109828.1_ENST00000416453.2_RNA|AC109828.1_ENST00000589853.1_RNA|AC109828.1_ENST00000585326.1_RNA|AC109828.1_ENST00000589232.1_RNA|AC109828.1_ENST00000590754.1_RNA|AC109828.1_ENST00000608473.1_RNA|AC109828.1_ENST00000592265.1_RNA|AC109828.1_ENST00000588707.1_RNA|GTF3C2_ENST00000264720.3_Frame_Shift_Del_p.A409fs|AC109828.1_ENST00000587586.1_RNA|AC109828.1_ENST00000585645.1_RNA|AC109828.1_ENST00000590383.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	409					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGCTCCTGCCCCCTCTGGC	0.592																																						uc002rjv.1		NA																	0				ovary(1)|skin(1)	2						c.(1225-1227)GCAfs		general transcription factor IIIC, polypeptide							70.0	70.0	70.0					2																	27559195		2203	4300	6503	SO:0001589	frameshift_variant	2976					transcription factor TFIIIC complex		g.chr2:27559195delC	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.1225delG	2.37:g.27559195delC	ENSP00000352536:p.Ala409fs					GTF3C2_uc010eyy.1_5'Flank|GTF3C2_uc002rju.1_Frame_Shift_Del_p.A420fs|GTF3C2_uc002rjw.1_Frame_Shift_Del_p.A409fs|GTF3C2_uc010eyz.1_Frame_Shift_Del_p.A409fs|uc002rjy.1_RNA	p.A409fs	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN			9	1588	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		409					D6W557|Q16632|Q9BWI7	Frame_Shift_Del	DEL	ENST00000359541.2	37	c.1225delG	CCDS1749.1																																																																																				0.592	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			8	128	NA	NA	NA	NA	8	128	---	---	---	---
PCGF3	10336	broad.mit.edu	37	4	728799	728799	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:728799delC	ENST00000362003.5	+	5	584	c.189delC	c.(187-189)cacfs	p.H63fs	PCGF3_ENST00000505655.2_Frame_Shift_Del_p.H63fs|PCGF3_ENST00000521023.2_Frame_Shift_Del_p.H29fs|PCGF3_ENST00000470161.2_Frame_Shift_Del_p.H63fs	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	63					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)	p.L65fs*26(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						ACCAGAGCCACCCCCTGCAGT	0.607																																						uc011bva.1		NA																	1	Deletion - Frameshift(1)		large_intestine(1)		0						c.(187-189)CACfs		ring finger protein 3							46.0	54.0	51.0					4																	728799		2013	4174	6187	SO:0001589	frameshift_variant	10336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding	g.chr4:728799delC	AK093869	CCDS3339.2	4p16.3	2013-01-09	2005-01-17	2005-01-19	ENSG00000185619	ENSG00000185619		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	10066	protein-coding gene	gene with protein product			"""ring finger protein 3"""	RNF3			Standard	XM_005272250		Approved	FLJ36550, DONG1, RNF3A, MGC40413	uc003gbe.3	Q3KNV8	OTTHUMG00000119000	ENST00000362003.5:c.189delC	4.37:g.728799delC	ENSP00000354724:p.His63fs					PCGF3_uc003gbc.1_RNA|PCGF3_uc003gbd.1_RNA|PCGF3_uc003gbe.2_Frame_Shift_Del_p.H63fs|PCGF3_uc010ibh.2_Frame_Shift_Del_p.H63fs|PCGF3_uc003gbg.1_Frame_Shift_Del_p.H29fs|PCGF3_uc003gbh.2_Frame_Shift_Del_p.H29fs	p.H63fs	NM_006315	NP_006306	Q3KNV8	PCGF3_HUMAN			6	664	+			63					D3DVN1|O15262	Frame_Shift_Del	DEL	ENST00000362003.5	37	c.189delC	CCDS3339.2																																																																																				0.607	PCGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239197.2	NM_006315		11	27	NA	NA	NA	NA	11	27	---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48608509	48608509	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr4:48608509delA	ENST00000503238.1	-	7	686	c.687delT	c.(685-687)tttfs	p.F229fs	FRYL_ENST00000507711.1_Frame_Shift_Del_p.F229fs|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Frame_Shift_Del_p.F229fs|FRYL_ENST00000537810.1_Frame_Shift_Del_p.F229fs|FRYL_ENST00000506685.1_5'Flank			O94915	FRYL_HUMAN	FRY-like	229					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TTTTTACTCGAAAAAATTTCA	0.348																																						uc003gyh.1		NA																	0				skin(1)	1						c.(685-687)TTTfs		furry-like							86.0	80.0	82.0					4																	48608509		1817	4076	5893	SO:0001589	frameshift_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48608509delA	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.687delT	4.37:g.48608509delA	ENSP00000426064:p.Phe229fs					FRYL_uc003gyk.2_Frame_Shift_Del_p.F229fs	p.F229fs	NM_015030	NP_055845	O94915	FRYL_HUMAN			10	1292	-			229					O95640|Q8WTZ5|Q9NT40	Frame_Shift_Del	DEL	ENST00000503238.1	37	c.687delT	CCDS43227.1																																																																																				0.348	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			11	24	NA	NA	NA	NA	11	24	---	---	---	---
IFNGR1	3459	broad.mit.edu	37	6	137519505	137519506	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr6:137519505_137519506delCT	ENST00000367739.4	-	7	1253_1254	c.1132_1133delAG	c.(1132-1134)agtfs	p.S380fs	IFNGR1_ENST00000543628.1_Frame_Shift_Del_p.S352fs	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	380					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)	AGGTGAAGAACTCTCTCTCTCT	0.431																																						uc003qho.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1132-1134)AGTfs		interferon gamma receptor 1 precursor	Interferon gamma-1b(DB00033)																																			SO:0001589	frameshift_variant	3459				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	g.chr6:137519505_137519506delCT		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.1132_1133delAG	6.37:g.137519515_137519516delCT	ENSP00000356713:p.Ser380fs					IFNGR1_uc011edm.1_Frame_Shift_Del_p.S350fs	p.S378fs	NM_000416	NP_000407	P15260	INGR1_HUMAN		GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	7	1235_1236	-	Colorectal(23;0.24)		378			Cytoplasmic (Potential).		B4DFT7|E1P587|Q53Y96	Frame_Shift_Del	DEL	ENST00000367739.4	37	c.1132_1133delAG	CCDS5185.1																																																																																				0.431	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			22	75	NA	NA	NA	NA	22	75	---	---	---	---
LEPROTL1	23484	broad.mit.edu	37	8	29961841	29961841	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-5248-01A-01D-2012-08	TCGA-CR-5248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e5af63d7-e8b2-4a76-8b39-6ee652ad8e5f	b9d347d7-5df5-4605-ba32-02b85ae3ecda	g.chr8:29961841delT	ENST00000321250.8	+	3	233	c.118delT	c.(118-120)tttfs	p.F41fs	LEPROTL1_ENST00000518001.1_5'UTR|LEPROTL1_ENST00000523116.1_Frame_Shift_Del_p.F41fs|LEPROTL1_ENST00000518192.1_Frame_Shift_Del_p.F64fs|LEPROTL1_ENST00000442880.2_Frame_Shift_Del_p.F41fs	NM_015344.2	NP_056159.2	O95214	LERL1_HUMAN	leptin receptor overlapping transcript-like 1	41						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)	5				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		CTTTGTTCTATTTTTTTACAT	0.323																																						uc003xhw.3		NA																	0					0						c.(118-120)TTTfs		leptin receptor overlapping transcript-like 1							98.0	94.0	96.0					8																	29961841		2203	4300	6503	SO:0001589	frameshift_variant	23484					integral to membrane		g.chr8:29961841delT	AF063605	CCDS6075.1, CCDS47834.1	8p12	2014-09-11			ENSG00000104660	ENSG00000104660			6555	protein-coding gene	gene with protein product		607338				11342119	Standard	NM_015344		Approved	my047, Vps55	uc003xhx.2	O95214	OTTHUMG00000163820	ENST00000321250.8:c.118delT	8.37:g.29961841delT	ENSP00000314625:p.Phe41fs					LEPROTL1_uc003xhx.2_Frame_Shift_Del_p.F40fs	p.F40fs	NM_015344	NP_056159	O95214	LERL1_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)	3	225	+			40			Helical; (Potential).		E9PHP8|Q9BW48	Frame_Shift_Del	DEL	ENST00000321250.8	37	c.118delT	CCDS6075.1																																																																																				0.323	LEPROTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375771.2			10	68	NA	NA	NA	NA	10	68	---	---	---	---
