#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
VPS13D	55187	broad.mit.edu	37	1	12443108	12443108	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:12443108T>G	ENST00000358136.3	+	58	11394	c.11264T>G	c.(11263-11265)tTg>tGg	p.L3755W	VPS13D_ENST00000356315.4_Missense_Mutation_p.L3730W|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATGGAGCTTTTGGGGCCAGTT	0.433																																						uc001atv.2		NA																	0				ovary(4)|pancreas(1)	5						c.(11263-11265)TTG>TGG		vacuolar protein sorting 13D isoform 1							176.0	166.0	169.0					1																	12443108		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12443108T>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.11264T>G	1.37:g.12443108T>G	ENSP00000350854:p.Leu3755Trp					VPS13D_uc001atw.2_Missense_Mutation_p.L3730W|VPS13D_uc001atx.2_Missense_Mutation_p.L2942W|VPS13D_uc009vnl.2_RNA	p.L3755W	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	58	11405	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3754						Missense_Mutation	SNP	ENST00000358136.3	37	c.11264T>G	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.04|18.04	3.535701|3.535701	0.64972|0.64972	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.55052|.	0.55;0.54|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.198316|.	0.45606|.	D|.	0.000350|.	T|T	0.56717|0.56717	0.2004|0.2004	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.997|.	D;P|.	0.64776|.	0.929;0.851|.	T|T	0.52726|0.52726	-0.8537|-0.8537	10|5	0.66056|.	D|.	0.02|.	.|.	16.4447|16.4447	0.83919|0.83919	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	3730;3754|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	W|G	3730;3755|2577	ENSP00000348666:L3730W;ENSP00000350854:L3755W|.	ENSP00000348666:L3730W|.	L|W	+|+	2|1	0|0	VPS13D|VPS13D	12365695|12365695	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.996000|0.996000	0.88848|0.88848	3.445000|3.445000	0.52921|0.52921	2.284000|2.284000	0.76573|0.76573	0.528000|0.528000	0.53228|0.53228	TTG|TGG		0.433	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		49	102	0	0	0	0	49	102				
EIF4G3	8672	broad.mit.edu	37	1	21186878	21186878	+	Splice_Site	SNP	C	C	A	rs10916883	byFrequency	TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:21186878C>A	ENST00000264211.8	-	18	3270	c.3076G>T	c.(3076-3078)Ggt>Tgt	p.G1026C	EIF4G3_ENST00000536266.1_Splice_Site_p.G630C|EIF4G3_ENST00000537738.1_Splice_Site_p.G516C|EIF4G3_ENST00000602326.1_Splice_Site_p.G1032C|EIF4G3_ENST00000374937.3_Splice_Site_p.G1032C|EIF4G3_ENST00000400422.1_Splice_Site_p.G1026C|EIF4G3_ENST00000374935.3_Splice_Site_p.G746C	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1026					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CCGGCCTCACCTGGTCTTCTC	0.393																																						uc001bec.2		NA																	0				skin(1)	1						c.(3076-3078)GGT>TGT		eukaryotic translation initiation factor 4							221.0	214.0	216.0					1																	21186878		2203	4300	6503	SO:0001630	splice_region_variant	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21186878C>A	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3076+1G>T	1.37:g.21186878C>A						EIF4G3_uc010odi.1_Missense_Mutation_p.G630C|EIF4G3_uc010odj.1_Missense_Mutation_p.G1025C|EIF4G3_uc009vpz.2_Missense_Mutation_p.G746C|EIF4G3_uc001bed.2_Missense_Mutation_p.G1026C|EIF4G3_uc001bef.2_Missense_Mutation_p.G1062C|EIF4G3_uc001bee.2_Missense_Mutation_p.G1032C	p.G1026C	NM_003760	NP_003751	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	19	3332	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	1026					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.3076G>T	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282762	0.80692	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.11063	3.38;3.38;3.19;2.81;3.37;3.03	5.72	5.72	0.89469	.	0.052475	0.85682	D	0.000000	T	0.28101	0.0693	L	0.43923	1.385	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.999;1.0;1.0	D;D;D;D;D	0.87578	0.994;0.912;0.967;0.998;0.948	T	0.00171	-1.1960	9	.	.	.	-11.628	19.8791	0.96888	0.0:1.0:0.0:0.0	.	1221;746;630;1032;1026	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	C	1026;1222;1026;746;516;1032;630	ENSP00000264211:G1026C;ENSP00000383274:G1026C;ENSP00000364071:G746C;ENSP00000442010:G516C;ENSP00000364073:G1032C;ENSP00000444693:G630C	.	G	-	1	0	EIF4G3	21059465	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.913000	0.63341	2.719000	0.93026	0.650000	0.86243	GGT		0.393	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760	Missense_Mutation	39	108	1	0	2.48e-24	4.79e-24	39	108				
KIAA0319L	79932	broad.mit.edu	37	1	35919263	35919264	+	Missense_Mutation	DNP	GC	GC	CG			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:35919263_35919264GC>CG	ENST00000325722.3	-	12	2041_2042	c.1807_1808GC>CG	c.(1807-1809)GCa>CGa	p.A603R	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.A40R|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	603	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)				ATCTGGGCCTGCATCTGCCTGA	0.475																																						uc001byx.2		NA																	0				skin(2)	2						c.(1807-1809)GCA>CGA		dyslexia susceptibility 2-like																																				SO:0001583	missense	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35919263_35919264GC>CG	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.1807_1808delinsCG	1.37:g.35919263_35919264delinsCG	ENSP00000318406:p.Ala603Arg					KIAA0319L_uc001byw.2_Missense_Mutation_p.A40R|KIAA0319L_uc010ohv.1_Missense_Mutation_p.A245R	p.A603R	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN			12	2065_2066	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	603			PKD 4.|Extracellular (Potential).		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	DNP	ENST00000325722.3	37	c.1807_1808GC>CG	CCDS390.1																																																																																				0.475	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		8	39	0	0	0	0	8	39				
SLC2A1	6513	broad.mit.edu	37	1	43396789	43396789	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:43396789G>A	ENST00000426263.3	-	3	381	c.203C>T	c.(202-204)tCa>tTa	p.S68L	SLC2A1_ENST00000415851.2_Missense_Mutation_p.S68L|SLC2A1_ENST00000372500.3_Missense_Mutation_p.S68L|SLC2A1_ENST00000475162.1_5'UTR	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	68					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GATGGCCACTGAGAGGGACCA	0.592											OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001cik.2		NA																	0				central_nervous_system(2)|pancreas(2)|ovary(1)	5						c.(202-204)TCA>TTA		solute carrier family 2 (facilitated glucose	Etomidate(DB00292)						128.0	103.0	111.0					1																	43396789		2203	4300	6503	SO:0001583	missense	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43396789G>A	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.203C>T	1.37:g.43396789G>A	ENSP00000416293:p.Ser68Leu		OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	916		p.S68L	NM_006516	NP_006507	P11166	GTR1_HUMAN			3	728	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	68			Helical; Name=2; (Potential).		A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	37	c.203C>T	CCDS477.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425007	0.62733	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019;ENST00000415851;ENST00000372500	T;T	0.77098	-1.07;-1.07	5.24	5.24	0.73138	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.051740	0.85682	D	0.000000	T	0.72653	0.3487	L	0.41124	1.26	0.58432	D	0.999991	B	0.23128	0.08	B	0.24974	0.057	T	0.71715	-0.4509	10	0.87932	D	0	.	16.3108	0.82869	0.0:0.0:1.0:0.0	.	68	P11166	GTR1_HUMAN	L	68	ENSP00000416293:S68L;ENSP00000361578:S68L	ENSP00000361578:S68L	S	-	2	0	SLC2A1	43169376	1.000000	0.71417	0.933000	0.37362	0.122000	0.20287	8.003000	0.88520	2.440000	0.82611	0.462000	0.41574	TCA		0.592	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516		9	55	0	0	0	0	9	55				
C8A	731	broad.mit.edu	37	1	57378266	57378266	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:57378266T>G	ENST00000361249.3	+	10	1667	c.1571T>G	c.(1570-1572)tTg>tGg	p.L524W		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	524	EGF-like.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CTGGGTAGCTTGGGTGCTGCC	0.592																																						uc001cyo.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1570-1572)TTG>TGG		complement component 8, alpha polypeptide							69.0	71.0	70.0					1																	57378266		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57378266T>G	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1571T>G	1.37:g.57378266T>G	ENSP00000354458:p.Leu524Trp						p.L524W	NM_000562	NP_000553	P07357	CO8A_HUMAN			10	1703	+			524			EGF-like.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.1571T>G	CCDS606.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.528328	0.44969	.	.	ENSG00000157131	ENST00000361249	D	0.87887	-2.31	5.73	-4.85	0.03142	.	1.739130	0.02190	N	0.061244	T	0.74015	0.3661	N	0.08118	0	0.09310	N	1	P	0.43392	0.805	P	0.46049	0.502	T	0.66148	-0.5996	10	0.39692	T	0.17	-0.1432	0.7813	0.01041	0.1974:0.2708:0.287:0.2447	.	524	P07357	CO8A_HUMAN	W	524	ENSP00000354458:L524W	ENSP00000354458:L524W	L	+	2	0	C8A	57150854	0.000000	0.05858	0.015000	0.15790	0.000000	0.00434	-0.402000	0.07223	-0.414000	0.07495	-3.984000	0.00014	TTG		0.592	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		11	82	0	0	0	0	11	82				
GBP7	388646	broad.mit.edu	37	1	89616203	89616203	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:89616203G>T	ENST00000294671.2	-	6	819	c.681C>A	c.(679-681)ttC>ttA	p.F227L		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	227	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GTTTTGGAAAGAAATGCCTGA	0.393																																						uc001dna.2		NA																	0				ovary(1)|skin(1)	2						c.(679-681)TTC>TTA		guanylate binding protein 4-like							115.0	111.0	112.0					1																	89616203		2203	4300	6503	SO:0001583	missense	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89616203G>T	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.681C>A	1.37:g.89616203G>T	ENSP00000294671:p.Phe227Leu					GBP2_uc001dmy.1_RNA	p.F227L	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	6	820	-		Lung NSC(277;0.0908)	227						Missense_Mutation	SNP	ENST00000294671.2	37	c.681C>A	CCDS720.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184594	0.38609	.	.	ENSG00000213512	ENST00000294671	T	0.76186	-1.0	3.4	0.146	0.14833	Guanylate-binding protein, N-terminal (1);	0.259523	0.38663	N	0.001619	T	0.63977	0.2557	M	0.76002	2.32	0.30073	N	0.809831	P	0.49635	0.926	P	0.50825	0.651	T	0.59658	-0.7413	9	.	.	.	.	6.6619	0.23018	0.4025:0.0:0.5975:0.0	.	227	Q8N8V2	GBP7_HUMAN	L	227	ENSP00000294671:F227L	.	F	-	3	2	GBP7	89388791	1.000000	0.71417	0.659000	0.29680	0.635000	0.38103	1.378000	0.34328	0.123000	0.18342	0.411000	0.27672	TTC		0.393	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		37	50	1	0	8.74e-17	1.68e-16	37	50				
CLK2	1196	broad.mit.edu	37	1	155234561	155234561	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:155234561C>T	ENST00000368361.4	-	9	1253	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	SCAMP3_ENST00000302631.3_5'Flank|CLK2_ENST00000536801.1_Missense_Mutation_p.R313Q|CLK2_ENST00000355560.4_Missense_Mutation_p.R311Q|CLK2_ENST00000361168.5_Missense_Mutation_p.R312Q|SCAMP3_ENST00000355379.3_5'Flank|CLK2_ENST00000497188.1_5'UTR			P49760	CLK2_HUMAN	CDC-like kinase 2	313	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)			GCGCTCATCTCGCTTCTAGGA	0.507								Other conserved DNA damage response genes																														uc001fjy.2		NA																	0					0						c.(937-939)CGA>CAA	Other_conserved_DNA_damage_response_genes	CDC-like kinase 2							76.0	69.0	72.0					1																	155234561		2203	4300	6503	SO:0001583	missense	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155234561C>T	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.938G>A	1.37:g.155234561C>T	ENSP00000357345:p.Arg313Gln					RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjs.2_5'Flank|SCAMP3_uc001fju.2_5'Flank|SCAMP3_uc001fjv.2_5'Flank|SCAMP3_uc001fjt.2_5'Flank|CLK2_uc001fjw.2_Missense_Mutation_p.R312Q|CLK2_uc001fjx.2_Missense_Mutation_p.R85Q|CLK2_uc009wqm.2_Missense_Mutation_p.R313Q	p.R313Q	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)		9	1228	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		313			Protein kinase.		B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	ENST00000368361.4	37	c.938G>A		.	.	.	.	.	.	.	.	.	.	.	21.3	4.132835	0.77662	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000424156;ENST00000536801	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.0	5.0	0.66597	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	0.32436	0.0829	L	0.45228	1.405	0.80722	D	1	D;P	0.53312	0.959;0.938	B;B	0.37091	0.241;0.165	T	0.31081	-0.9956	10	0.46703	T	0.11	.	17.3902	0.87428	0.0:1.0:0.0:0.0	.	313;312	P49760;P49760-3	CLK2_HUMAN;.	Q	312;313;311;85;313	ENSP00000354856:R312Q;ENSP00000357345:R313Q;ENSP00000347759:R311Q;ENSP00000441023:R313Q	ENSP00000347759:R311Q	R	-	2	0	CLK2	153501185	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.651000	0.83577	2.767000	0.95098	0.650000	0.86243	CGA		0.507	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		27	31	0	0	0	0	27	31				
ETV3L	440695	broad.mit.edu	37	1	157062482	157062482	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:157062482G>C	ENST00000454449.2	-	5	1329	c.1045C>G	c.(1045-1047)Ctg>Gtg	p.L349V		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	349					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				AGGTTCTCCAGATTGGGGGAA	0.562																																						uc001fqq.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1045-1047)CTG>GTG		ets variant 3-like							84.0	86.0	85.0					1																	157062482		2203	4300	6503	SO:0001583	missense	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157062482G>C	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.1045C>G	1.37:g.157062482G>C	ENSP00000430271:p.Leu349Val						p.L349V	NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN			5	1330	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	349						Missense_Mutation	SNP	ENST00000454449.2	37	c.1045C>G	CCDS30893.1	.	.	.	.	.	.	.	.	.	.	G	3.563	-0.089248	0.07097	.	.	ENSG00000253831	ENST00000454449	T	0.34275	1.37	4.05	0.862	0.19056	.	13.438000	0.00166	N	0.000000	T	0.10337	0.0253	L	0.27053	0.805	0.09310	N	1	B	0.18461	0.028	B	0.14023	0.01	T	0.14839	-1.0458	10	0.41790	T	0.15	.	5.5182	0.16918	0.1933:0.1616:0.6451:0.0	.	349	Q6ZN32	ETV3L_HUMAN	V	349	ENSP00000430271:L349V	ENSP00000430271:L349V	L	-	1	2	ETV3L	155329106	0.000000	0.05858	0.033000	0.17914	0.045000	0.14185	0.090000	0.15025	0.352000	0.24053	0.561000	0.74099	CTG		0.562	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		5	53	0	0	0	0	5	53				
MNDA	4332	broad.mit.edu	37	1	158817523	158817523	+	Silent	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:158817523C>T	ENST00000368141.4	+	6	1254	c.993C>T	c.(991-993)agC>agT	p.S331S		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	331	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S331S(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TGCAGAAAAGCGTACACAAGA	0.368																																						uc001fsz.1		NA																	1	Substitution - coding silent(1)		breast(1)	ovary(2)|skin(2)	4						c.(991-993)AGC>AGT		myeloid cell nuclear differentiation antigen							97.0	95.0	96.0					1																	158817523		2203	4300	6503	SO:0001819	synonymous_variant	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158817523C>T	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.993C>T	1.37:g.158817523C>T							p.S331S	NM_002432	NP_002423	P41218	MNDA_HUMAN			6	1193	+	all_hematologic(112;0.0378)		331			HIN-200.			Silent	SNP	ENST00000368141.4	37	c.993C>T	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	C	2.696	-0.271999	0.05716	.	.	ENSG00000163563	ENST00000438394	.	.	.	4.15	0.152	0.14893	.	.	.	.	.	T	0.07503	0.0189	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33523	-0.9865	4	.	.	.	0.0539	1.0512	0.01580	0.5045:0.2009:0.1098:0.1848	.	.	.	.	C	37	.	.	R	+	1	0	MNDA	157084147	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.772000	0.04694	0.236000	0.21180	-0.388000	0.06559	CGT		0.368	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		9	40	0	0	0	0	9	40				
ASPM	259266	broad.mit.edu	37	1	197115515	197115515	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:197115515C>T	ENST00000367409.4	-	1	309	c.53G>A	c.(52-54)cGg>cAg	p.R18Q	ASPM_ENST00000294732.7_Missense_Mutation_p.R18Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	18					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						gggcggcctccgctcggtcgg	0.711																																						uc001gtu.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(52-54)CGG>CAG		asp (abnormal spindle)-like, microcephaly							11.0	15.0	14.0					1																	197115515		2041	4074	6115	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197115515C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.53G>A	1.37:g.197115515C>T	ENSP00000356379:p.Arg18Gln					ASPM_uc001gtv.2_Missense_Mutation_p.R18Q|ASPM_uc001gtw.3_5'UTR	p.R18Q	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			1	310	-			18					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.53G>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156981	0.38119	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367406	T;T	0.58210	0.35;1.62	4.68	-9.36	0.00629	.	2.561000	0.01781	N	0.031784	T	0.34250	0.0891	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.09975	-1.0650	10	0.18276	T	0.48	.	8.6675	0.34130	0.1427:0.1994:0.5465:0.1114	.	18;18	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	Q	18	ENSP00000356379:R18Q;ENSP00000294732:R18Q	ENSP00000294732:R18Q	R	-	2	0	ASPM	195382138	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.107000	0.01337	-2.261000	0.00691	-1.953000	0.00484	CGG		0.711	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		10	44	0	0	0	0	10	44				
ELF3	1999	broad.mit.edu	37	1	201981088	201981088	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:201981088A>G	ENST00000359651.3	+	2	3359	c.167A>G	c.(166-168)aAg>aGg	p.K56R	ELF3_ENST00000367284.5_Missense_Mutation_p.K56R|RP11-510N19.5_ENST00000504773.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA|ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367283.3_Missense_Mutation_p.K56R					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						CTTGCAGAGAAGGCCAGCTGG	0.547																																						uc001gxg.3		NA																	0					0						c.(166-168)AAG>AGG		E74-like factor 3 (ets domain transcription							91.0	94.0	93.0					1																	201981088		2203	4300	6503	SO:0001583	missense	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201981088A>G	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.167A>G	1.37:g.201981088A>G	ENSP00000352673:p.Lys56Arg					ELF3_uc001gxi.3_Missense_Mutation_p.K56R|ELF3_uc001gxh.3_Missense_Mutation_p.K56R	p.K56R	NM_004433	NP_004424	P78545	ELF3_HUMAN			2	3359	+			56	EK -> GE (in Ref. 7; CAD29859).		PNT.			Missense_Mutation	SNP	ENST00000359651.3	37	c.167A>G	CCDS1419.1	.	.	.	.	.	.	.	.	.	.	A	13.96	2.393469	0.42410	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.05	5.05	0.67936	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.858912	0.10540	N	0.662793	T	0.49440	0.1557	L	0.57536	1.79	0.33288	D	0.563162	D	0.71674	0.998	D	0.69307	0.963	T	0.44847	-0.9301	10	0.11182	T	0.66	.	14.8013	0.69919	1.0:0.0:0.0:0.0	.	56	P78545	ELF3_HUMAN	R	56;56;56;56;54	ENSP00000352673:K56R;ENSP00000356253:K56R;ENSP00000356252:K56R;ENSP00000405162:K54R	ENSP00000311348:K56R	K	+	2	0	ELF3	200247711	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	4.384000	0.59607	1.892000	0.54788	0.482000	0.46254	AAG		0.547	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	NM_004433		70	110	0	0	0	0	70	110				
PTPN7	5778	broad.mit.edu	37	1	202121757	202121757	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:202121757G>A	ENST00000308986.5	-	8	918	c.788C>T	c.(787-789)tCa>tTa	p.S263L	PTPN7_ENST00000367279.4_Missense_Mutation_p.S302L|PTPN7_ENST00000543735.1_Missense_Mutation_p.S92L|PTPN7_ENST00000544762.1_Missense_Mutation_p.S39L|PTPN7_ENST00000309017.3_Missense_Mutation_p.S368L|PTPN7_ENST00000492977.1_5'UTR			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	263	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						GGGCCCAGCTGATTCTGGTGT	0.622																																						uc001gxm.1		NA																	0				skin(1)	1						c.(787-789)TCA>TTA		protein tyrosine phosphatase, non-receptor type							66.0	60.0	62.0					1																	202121757		2203	4300	6503	SO:0001583	missense	5778					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr1:202121757G>A	BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.788C>T	1.37:g.202121757G>A	ENSP00000311133:p.Ser263Leu					PTPN7_uc001gxl.1_Missense_Mutation_p.S302L|PTPN7_uc001gxn.1_Missense_Mutation_p.S263L|PTPN7_uc010ppv.1_Missense_Mutation_p.S82L|PTPN7_uc010ppw.1_Missense_Mutation_p.S211L|PTPN7_uc010ppx.1_Missense_Mutation_p.S337L|PTPN7_uc010ppy.1_RNA|PTPN7_uc001gxo.1_Missense_Mutation_p.S215L	p.S263L	NM_002832	NP_002823	P35236	PTN7_HUMAN			8	919	-			263			Tyrosine-protein phosphatase.		B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Missense_Mutation	SNP	ENST00000308986.5	37	c.788C>T		.	.	.	.	.	.	.	.	.	.	G	13.70	2.314611	0.40996	.	.	ENSG00000143851	ENST00000367279;ENST00000309017;ENST00000308986;ENST00000544762;ENST00000543735;ENST00000477554	T;T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34;2.34	5.32	5.32	0.75619	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.46758	D	0.000271	T	0.30823	0.0777	M	0.78344	2.41	0.25783	N	0.9847	P;P;P;P;P	0.48640	0.913;0.838;0.913;0.913;0.893	P;P;P;P;P	0.51453	0.529;0.521;0.67;0.67;0.616	T	0.26395	-1.0104	10	0.14252	T	0.57	.	14.232	0.65898	0.0:0.1495:0.8505:0.0	.	337;211;215;263;302	B4DZD9;B4DVF0;Q8NFX3;P35236;P35236-2	.;.;.;PTN7_HUMAN;.	L	302;368;263;39;92;344	ENSP00000356248:S302L;ENSP00000309116:S368L;ENSP00000311133:S263L;ENSP00000438272:S39L;ENSP00000444624:S92L;ENSP00000418416:S344L	ENSP00000311133:S263L	S	-	2	0	PTPN7	200388380	0.889000	0.30405	0.698000	0.30274	0.232000	0.25224	2.699000	0.47077	2.463000	0.83235	0.563000	0.77884	TCA		0.622	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002832		23	45	0	0	0	0	23	45				
CUBN	8029	broad.mit.edu	37	10	16911693	16911693	+	Silent	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr10:16911693G>A	ENST00000377833.4	-	59	9461	c.9396C>T	c.(9394-9396)ttC>ttT	p.F3132F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3132	CUB 23. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AATCTGTCTTGAACACCAGGA	0.453																																						uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(9394-9396)TTC>TTT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						161.0	172.0	168.0					10																	16911693		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16911693G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9396C>T	10.37:g.16911693G>A						CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Silent_p.F488F	p.F3132F	NM_001081	NP_001072	O60494	CUBN_HUMAN			59	9448	-			3132			CUB 23.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.9396C>T	CCDS7113.1																																																																																				0.453	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		37	147	0	0	0	0	37	147				
KIAA1549L	25758	broad.mit.edu	37	11	33667250	33667250	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr11:33667250G>A	ENST00000321505.4	+	16	4717	c.4537G>A	c.(4537-4539)Gag>Aag	p.E1513K	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E1519K			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1513						integral component of membrane (GO:0016021)											TGAAATCATAGAGGAAACCAA	0.498																																						uc001mup.3		NA																	0				ovary(2)	2						c.(4555-4557)GAG>AAG		hypothetical protein LOC25758							76.0	81.0	80.0					11																	33667250		2005	4158	6163	SO:0001583	missense	25758					integral to membrane		g.chr11:33667250G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.4537G>A	11.37:g.33667250G>A	ENSP00000315295:p.Glu1513Lys						p.E1519K	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			16	4679	+			1513					B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.4555G>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	32	5.171663	0.94807	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568	.	.	.	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000005	T	0.78000	0.4215	L	0.60455	1.87	0.53688	D	0.999975	D	0.89917	1.0	D	0.91635	0.999	T	0.77773	-0.2462	9	0.59425	D	0.04	-21.391	19.8929	0.96937	0.0:0.0:1.0:0.0	.	1519	E9PAT2	.	K	1513;1519;1352	.	ENSP00000315295:E1513K	E	+	1	0	C11orf41	33623826	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.447000	0.97595	2.702000	0.92279	0.462000	0.41574	GAG		0.498	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		27	84	0	0	0	0	27	84				
RASGRP2	10235	broad.mit.edu	37	11	64508539	64508539	+	Silent	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr11:64508539G>A	ENST00000354024.3	-	5	504	c.252C>T	c.(250-252)tcC>tcT	p.S84S	RASGRP2_ENST00000377489.1_Silent_p.S84S|RASGRP2_ENST00000377487.1_Silent_p.S84S|RASGRP2_ENST00000394428.1_Missense_Mutation_p.R58C|RASGRP2_ENST00000377494.1_Silent_p.S84S|RASGRP2_ENST00000394430.1_Silent_p.S84S|RASGRP2_ENST00000394432.3_Silent_p.S84S|RASGRP2_ENST00000377486.3_Silent_p.S84S|RASGRP2_ENST00000377497.3_Silent_p.S84S|RASGRP2_ENST00000394429.1_Missense_Mutation_p.R61C	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	84	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGGGAAGGCGGAGATCCAGT	0.572											OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc009ypu.2		NA																	0					0						c.(250-252)TCC>TCT		RAS guanyl releasing protein 2							41.0	37.0	39.0					11																	64508539		2201	4297	6498	SO:0001819	synonymous_variant	10235				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	g.chr11:64508539G>A	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.252C>T	11.37:g.64508539G>A			OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1077	RASGRP2_uc001oat.2_5'Flank|RASGRP2_uc001oau.2_5'UTR|RASGRP2_uc009ypv.2_Silent_p.S84S|RASGRP2_uc009ypw.2_Silent_p.S84S	p.S84S	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN			5	479	-			84			N-terminal Ras-GEF.		A6NDC7|O00538|Q9UL65	Silent	SNP	ENST00000354024.3	37	c.252C>T	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	G	7.658	0.684329	0.14907	.	.	ENSG00000068831	ENST00000394429;ENST00000394428	.	.	.	4.32	-6.04	0.02178	.	.	.	.	.	T	0.45236	0.1332	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56836	-0.7913	5	0.87932	D	0	-2.0813	0.8561	0.01182	0.2599:0.3011:0.2576:0.1813	.	.	.	.	C	61;58	.	ENSP00000377949:R58C	R	-	1	0	RASGRP2	64265115	0.000000	0.05858	0.979000	0.43373	0.582000	0.36321	-2.781000	0.00773	-0.899000	0.03901	-0.752000	0.03492	CGC		0.572	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819		7	24	0	0	0	0	7	24				
CDC42BPG	55561	broad.mit.edu	37	11	64606237	64606237	+	Silent	SNP	T	T	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr11:64606237T>C	ENST00000342711.5	-	8	1013	c.1014A>G	c.(1012-1014)gaA>gaG	p.E338E		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						AGTCCACGCCTTCGAAGAAAG	0.637																																						uc001obs.3		NA																	0				lung(3)|central_nervous_system(1)	4						c.(1012-1014)GAA>GAG		CDC42 binding protein kinase gamma (DMPK-like)							58.0	55.0	56.0					11																	64606237		2201	4296	6497	SO:0001819	synonymous_variant	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64606237T>C	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.1014A>G	11.37:g.64606237T>C							p.E338E	NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN			8	1014	-			338			AGC-kinase C-terminal.			Silent	SNP	ENST00000342711.5	37	c.1014A>G	CCDS31601.1																																																																																				0.637	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		29	66	0	0	0	0	29	66				
OMP	4975	broad.mit.edu	37	11	76813990	76813990	+	Silent	SNP	C	C	T	rs368926826	byFrequency	TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr11:76813990C>T	ENST00000529803.1	+	1	105	c.105C>T	c.(103-105)cgC>cgT	p.R35R	CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000456580.2_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	35					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TGAAGCAGCGCGGGGAGAAGC	0.672													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		17865	0.0		0.0	False		,,,				2504	0.0					uc010rsk.1		NA																	0					0						c.(103-105)CGC>CGT		olfactory marker protein		C	,	1,4275		0,1,2137	35.0	45.0	41.0		,105	-8.4	0.5	11		41	1,8467		0,1,4233	no	intron,coding-synonymous	CAPN5,OMP	NM_004055.4,NM_006189.1	,	0,2,6370	TT,TC,CC		0.0118,0.0234,0.0157	,	,35/164	76813990	2,12742	2138	4234	6372	SO:0001819	synonymous_variant	4975				sensory perception of smell|synaptic transmission			g.chr11:76813990C>T	U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.105C>T	11.37:g.76813990C>T						CAPN5_uc001oxx.2_Intron|CAPN5_uc009yup.2_Intron|CAPN5_uc009yuq.2_Intron|CAPN5_uc001oxy.2_Intron	p.R35R	NM_006189	NP_006180	P47874	OMP_HUMAN			1	105	+			35					Q562G2	Silent	SNP	ENST00000529803.1	37	c.105C>T	CCDS53682.1																																																																																				0.672	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382570.1	NM_006189		17	27	0	0	0	0	17	27				
CDKN1B	1027	broad.mit.edu	37	12	12870859	12870859	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:12870859G>T	ENST00000228872.4	+	1	802	c.86G>T	c.(85-87)tGc>tTc	p.C29F	CDKN1B_ENST00000396340.1_Missense_Mutation_p.C29F|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	29					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CCCTCGGCCTGCAGGAACCTC	0.617																																						uc001rat.2		NA																	0				ovary(1)|lung(1)	2						c.(85-87)TGC>TTC		cyclin-dependent kinase inhibitor 1B							46.0	55.0	52.0					12																	12870859		2203	4300	6503	SO:0001583	missense	1027	Multiple_Endocrine_Neoplasia_type_1|Multiple_Endocrine_Neoplasia_type_4			autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	g.chr12:12870859G>T	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.86G>T	12.37:g.12870859G>T	ENSP00000228872:p.Cys29Phe						p.C29F	NM_004064	NP_004055	P46527	CDN1B_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0336)	1	558	+		Prostate(47;0.0322)|all_epithelial(100;0.159)	29					Q16307|Q5U0H2|Q9BUS6	Missense_Mutation	SNP	ENST00000228872.4	37	c.86G>T	CCDS8653.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797303	0.90538	.	.	ENSG00000111276	ENST00000228872;ENST00000396340;ENST00000442489	D;D;D	0.86956	-2.19;-2.06;-1.69	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.94208	0.8141	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94930	0.8081	10	0.72032	D	0.01	-5.7626	18.2446	0.89981	0.0:0.0:1.0:0.0	.	29	P46527	CDN1B_HUMAN	F	29;29;22	ENSP00000228872:C29F;ENSP00000379629:C29F;ENSP00000407597:C22F	ENSP00000228872:C29F	C	+	2	0	CDKN1B	12762126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.294000	0.96088	2.405000	0.81733	0.655000	0.94253	TGC		0.617	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064		37	71	1	0	1.91e-15	3.64e-15	37	71				
SLCO1B3	28234	broad.mit.edu	37	12	21032551	21032551	+	Silent	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:21032551C>T	ENST00000381545.3	+	11	1536	c.1317C>T	c.(1315-1317)acC>acT	p.T439T	LST3_ENST00000540229.1_Silent_p.T439T|SLCO1B3_ENST00000553473.1_Silent_p.T439T|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Silent_p.T439T|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	439					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	CCGGCCTAACCTTGACCTATG	0.313																																						uc001rek.2		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(1315-1317)ACC>ACT		solute carrier organic anion transporter family,							73.0	71.0	72.0					12																	21032551		2203	4299	6502	SO:0001819	synonymous_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21032551C>T		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1317C>T	12.37:g.21032551C>T						SLCO1B3_uc001rel.2_Silent_p.T439T|SLCO1B3_uc010sil.1_Silent_p.T439T|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Silent_p.T264T	p.T439T	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN			10	1443	+	Esophageal squamous(101;0.149)		439			Extracellular (Potential).		E7EMT8|Q5JAR4	Silent	SNP	ENST00000381545.3	37	c.1317C>T	CCDS8684.1																																																																																				0.313	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		18	47	0	0	0	0	18	47				
GYS2	2998	broad.mit.edu	37	12	21693480	21693480	+	Missense_Mutation	SNP	C	C	T	rs373682083		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:21693480C>T	ENST00000261195.2	-	14	1927	c.1673G>A	c.(1672-1674)cGt>cAt	p.R558H		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	558					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATCTGGAGAACGGAACCGCCT	0.418																																					Colon(149;9 1820 3690 10544 50424)	uc001rfb.2		NA																	0				lung(1)|skin(1)	2						c.(1672-1674)CGT>CAT		glycogen synthase 2		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	102.0	103.0	103.0		1673	4.2	1.0	12		103	0,8600		0,0,4300	no	missense	GYS2	NM_021957.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	558/704	21693480	1,13005	2203	4300	6503	SO:0001583	missense	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21693480C>T		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1673G>A	12.37:g.21693480C>T	ENSP00000261195:p.Arg558His						p.R558H	NM_021957	NP_068776	P54840	GYS2_HUMAN			14	1928	-			558					A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	c.1673G>A	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938371	0.73557	2.27E-4	0.0	ENSG00000111713	ENST00000261195	T	0.65549	-0.16	5.1	4.21	0.49690	.	0.593520	0.18354	N	0.143787	T	0.68339	0.2990	L	0.35723	1.085	0.47374	D	0.999406	D	0.54601	0.967	P	0.61275	0.886	T	0.70916	-0.4742	10	0.72032	D	0.01	-1.7161	13.8336	0.63395	0.0:0.926:0.0:0.074	.	558	P54840	GYS2_HUMAN	H	558	ENSP00000261195:R558H	ENSP00000261195:R558H	R	-	2	0	GYS2	21584747	1.000000	0.71417	0.983000	0.44433	0.991000	0.79684	3.026000	0.49689	1.369000	0.46134	0.650000	0.86243	CGT		0.418	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		16	101	0	0	0	0	16	101				
CNTN1	1272	broad.mit.edu	37	12	41421672	41421672	+	Silent	SNP	T	T	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:41421672T>A	ENST00000551295.2	+	22	2841	c.2724T>A	c.(2722-2724)ccT>ccA	p.P908P	CNTN1_ENST00000348761.2_Silent_p.P897P|CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Silent_p.P908P	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	908	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTAGCCAGCCTCCAAGGATCA	0.408																																						uc001rmm.1		NA																	0				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(2722-2724)CCT>CCA		contactin 1 isoform 1 precursor							125.0	110.0	115.0					12																	41421672		2203	4300	6503	SO:0001819	synonymous_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41421672T>A	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2724T>A	12.37:g.41421672T>A						CNTN1_uc001rmn.1_Silent_p.P897P	p.P908P	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			22	2837	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	908			Fibronectin type-III 4.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	c.2724T>A	CCDS8737.1																																																																																				0.408	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		20	31	0	0	0	0	20	31				
CALCOCO1	57658	broad.mit.edu	37	12	54115808	54115808	+	Splice_Site	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:54115808C>T	ENST00000550804.1	-	5	670		c.e5+1		CALCOCO1_ENST00000547885.1_5'Flank|CALCOCO1_ENST00000262059.4_Splice_Site|CALCOCO1_ENST00000548263.1_Splice_Site|CALCOCO1_ENST00000430117.2_Splice_Site			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1						intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CCAGCTCCCACCTTGTACTGT	0.597																																						uc001sef.2		NA																	0				ovary(1)	1						c.e5+1		coiled-coil transcriptional coactivator isoform							63.0	50.0	54.0					12																	54115808		2203	4300	6503	SO:0001630	splice_region_variant	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54115808C>T	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.609+1G>A	12.37:g.54115808C>T						CALCOCO1_uc010som.1_Splice_Site_p.K170_splice|CALCOCO1_uc010son.1_Splice_Site_p.K80_splice|CALCOCO1_uc001seh.2_Splice_Site_p.K203_splice|CALCOCO1_uc009znd.2_Splice_Site_p.K203_splice|CALCOCO1_uc001seg.2_Splice_Site_p.K80_splice|CALCOCO1_uc010soo.1_Splice_Site_p.K196_splice	p.K203_splice	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN			5	753	-								B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Splice_Site	SNP	ENST00000550804.1	37	c.609_splice	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574678	0.28092	.	.	ENSG00000012822	ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000454332	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9884	0.71365	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CALCOCO1	52402075	1.000000	0.71417	0.998000	0.56505	0.089000	0.18198	4.701000	0.61810	2.342000	0.79632	0.462000	0.41574	.		0.597	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898	Intron	8	68	0	0	0	0	8	68				
CALCOCO1	57658	broad.mit.edu	37	12	54117433	54117433	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:54117433C>T	ENST00000550804.1	-	4	454	c.394G>A	c.(394-396)Gag>Aag	p.E132K	CALCOCO1_ENST00000547885.1_5'Flank|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.E132K|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.E132K|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.E99K			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	132	N-terminal AD (CTNNB1 binding site). {ECO:0000250}.				intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CCATCAGCCTCCTCCAGGGTC	0.577																																						uc001sef.2		NA																	0				ovary(1)	1						c.(394-396)GAG>AAG		coiled-coil transcriptional coactivator isoform							76.0	73.0	74.0					12																	54117433		2203	4300	6503	SO:0001583	missense	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54117433C>T	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.394G>A	12.37:g.54117433C>T	ENSP00000449960:p.Glu132Lys					CALCOCO1_uc010som.1_Missense_Mutation_p.E99K|CALCOCO1_uc010son.1_Missense_Mutation_p.E9K|CALCOCO1_uc001seh.2_Missense_Mutation_p.E132K|CALCOCO1_uc009znd.2_Missense_Mutation_p.E132K|CALCOCO1_uc001seg.2_Missense_Mutation_p.E9K|CALCOCO1_uc010soo.1_Missense_Mutation_p.E125K	p.E132K	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN			4	538	-			132			N-terminal AD (CTNNB1 binding site) (By similarity).		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	c.394G>A	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893867	0.91889	.	.	ENSG00000012822	ENST00000430117;ENST00000262059;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000454332;ENST00000551900;ENST00000546619;ENST00000547949;ENST00000553154;ENST00000549173;ENST00000548177	T;T;T;T;T;T;T;T	0.09723	2.95;2.95;2.95;2.95;2.95;2.95;2.95;2.95	4.79	4.79	0.61399	.	0.000000	0.46442	D	0.000291	T	0.22475	0.0542	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D	0.71674	0.994;0.998;0.993;0.996;0.998;0.994	D;D;P;D;D;D	0.76071	0.926;0.968;0.879;0.987;0.968;0.926	T	0.01276	-1.1398	10	0.40728	T	0.16	-22.687	17.4946	0.87714	0.0:1.0:0.0:0.0	.	125;99;132;132;99;132	B4DG60;E9PAU0;Q9P1Z2-3;Q9P1Z2-2;E7EPK7;Q9P1Z2	.;.;.;.;.;CACO1_HUMAN	K	99;132;132;132;125;9;132;132;132;132;152;132	ENSP00000397189:E99K;ENSP00000262059:E132K;ENSP00000447647:E132K;ENSP00000449960:E132K;ENSP00000450083:E132K;ENSP00000448621:E132K;ENSP00000449058:E152K;ENSP00000446820:E132K	ENSP00000262059:E132K	E	-	1	0	CALCOCO1	52403700	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.367000	0.59498	2.586000	0.87340	0.655000	0.94253	GAG		0.577	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		8	66	0	0	0	0	8	66				
TRHDE	29953	broad.mit.edu	37	12	72680609	72680609	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:72680609G>A	ENST00000261180.4	+	2	1024	c.928G>A	c.(928-930)Gtg>Atg	p.V310M		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	310					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGAAACTTCCGTGTTTGAGGA	0.403																																						uc001sxa.2		NA																	0				ovary(2)|skin(1)	3						c.(928-930)GTG>ATG		thyrotropin-releasing hormone degrading enzyme							167.0	158.0	161.0					12																	72680609		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72680609G>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.928G>A	12.37:g.72680609G>A	ENSP00000261180:p.Val310Met						p.V310M	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			2	958	+			310			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.928G>A	CCDS9004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.149590|4.149590	0.78001|0.78001	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000547300|ENST00000261180	.|T	.|0.02737	.|4.18	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	.|0.390452	.|0.27664	.|N	.|0.018364	T|T	0.12050|0.12050	0.0293|0.0293	L|L	0.53617|0.53617	1.68|1.68	0.42428|0.42428	D|D	0.992662|0.992662	.|D	.|0.71674	.|0.998	.|P	.|0.62491	.|0.903	T|T	0.01059|0.01059	-1.1465|-1.1465	5|10	.|0.35671	.|T	.|0.21	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|310	.|Q9UKU6	.|TRHDE_HUMAN	H|M	75|310	.|ENSP00000261180:V310M	.|ENSP00000261180:V310M	R|V	+|+	2|1	0|0	TRHDE|TRHDE	70966876|70966876	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.969000|0.969000	0.65631|0.65631	4.021000|4.021000	0.57196|0.57196	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.403	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		56	85	0	0	0	0	56	85				
CIT	11113	broad.mit.edu	37	12	120172977	120172977	+	Silent	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:120172977G>A	ENST00000261833.7	-	24	3070	c.3018C>T	c.(3016-3018)acC>acT	p.T1006T	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Silent_p.T1048T	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1006					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCTTCTGGCTGGTAAGCTGCA	0.522																																						uc001txi.1		NA																	0				ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(3016-3018)ACC>ACT		citron							143.0	121.0	129.0					12																	120172977		2203	4300	6503	SO:0001819	synonymous_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120172977G>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.3018C>T	12.37:g.120172977G>A						CIT_uc001txh.1_Silent_p.T540T|CIT_uc001txj.1_Silent_p.T1048T	p.T1006T	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	24	3071	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1006			Potential.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.3018C>T	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.200796	0.38905	.	.	ENSG00000122966	ENST00000392520;ENST00000546026	.	.	.	5.23	4.34	0.51931	.	.	.	.	.	T	0.59514	0.2199	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57004	-0.7885	4	.	.	.	.	9.1005	0.36664	0.0742:0.0:0.7803:0.1455	.	.	.	.	L	634;32	.	.	P	-	2	0	CIT	118657360	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.141000	0.42168	1.333000	0.45449	0.655000	0.94253	CCA		0.522	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		16	79	0	0	0	0	16	79				
CAMKK2	10645	broad.mit.edu	37	12	121691083	121691083	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:121691083G>C	ENST00000324774.5	-	10	1928	c.1100C>G	c.(1099-1101)tCt>tGt	p.S367C	CAMKK2_ENST00000412367.2_Missense_Mutation_p.S367C|CAMKK2_ENST00000545538.1_Missense_Mutation_p.S154C|CAMKK2_ENST00000392473.2_Missense_Mutation_p.S367C|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000392474.2_Missense_Mutation_p.S367C|CAMKK2_ENST00000337174.3_Missense_Mutation_p.S367C|CAMKK2_ENST00000538733.1_Missense_Mutation_p.S367C|CAMKK2_ENST00000404169.3_Missense_Mutation_p.S367C|CAMKK2_ENST00000446440.2_Missense_Mutation_p.S367C|CAMKK2_ENST00000402834.4_Missense_Mutation_p.S367C|CAMKK2_ENST00000347034.2_Missense_Mutation_p.S367C	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	367	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TACCTTCCCAGAGAAGATCTT	0.562																																						uc001tzu.2		NA																	0				lung(1)|large_intestine(1)|stomach(1)	3						c.(1099-1101)TCT>TGT		calcium/calmodulin-dependent protein kinase							87.0	65.0	73.0					12																	121691083		2203	4300	6503	SO:0001583	missense	10645				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity	g.chr12:121691083G>C	AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.1100C>G	12.37:g.121691083G>C	ENSP00000312741:p.Ser367Cys					CAMKK2_uc001tzt.2_Missense_Mutation_p.S367C|CAMKK2_uc001tzv.2_Missense_Mutation_p.S367C|CAMKK2_uc001tzw.2_Missense_Mutation_p.S367C|CAMKK2_uc001tzx.2_Missense_Mutation_p.S367C|CAMKK2_uc001tzy.2_Missense_Mutation_p.S367C|CAMKK2_uc001tzz.1_Missense_Mutation_p.S154C|CAMKK2_uc001uaa.1_Missense_Mutation_p.S367C|CAMKK2_uc001uab.2_Missense_Mutation_p.S367C|CAMKK2_uc001uac.2_Missense_Mutation_p.S367C	p.S367C	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN			10	1224	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		367			Protein kinase.		A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Missense_Mutation	SNP	ENST00000324774.5	37	c.1100C>G	CCDS9216.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471075	0.63625	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000545538;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473	T;T;T;T;T;T;T;T;T;T	0.66280	0.77;0.77;0.77;0.77;0.77;-0.2;0.77;0.77;0.77;0.77	5.35	5.35	0.76521	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	0.68778	0.3038	M	0.62209	1.925	0.80722	D	1	B;P;P;B;B;P;P;P	0.40660	0.291;0.513;0.679;0.128;0.311;0.679;0.726;0.679	B;P;B;B;B;B;P;B	0.46510	0.142;0.464;0.384;0.099;0.144;0.384;0.519;0.29	T	0.69907	-0.5018	10	0.48119	T	0.1	-0.1038	18.062	0.89380	0.0:0.0:1.0:0.0	.	367;367;367;154;367;367;367;367	Q96RR4-6;Q96RR4-2;Q96RR4-7;F5GZ00;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;.;KKCC2_HUMAN;.	C	367;367;367;367;367;154;367;367;350;367;367	ENSP00000376266:S367C;ENSP00000321230:S367C;ENSP00000445944:S367C;ENSP00000336634:S367C;ENSP00000312741:S367C;ENSP00000441352:S154C;ENSP00000388368:S367C;ENSP00000384600:S367C;ENSP00000388273:S367C;ENSP00000376265:S367C	ENSP00000312741:S367C	S	-	2	0	CAMKK2	120175466	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.267000	0.65530	2.512000	0.84698	0.655000	0.94253	TCT		0.562	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	NM_172226		4	56	0	0	0	0	4	56				
DNAH10	196385	broad.mit.edu	37	12	124413860	124413860	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:124413860G>A	ENST00000409039.3	+	70	12016	c.11991G>A	c.(11989-11991)atG>atA	p.M3997I	DNAH10OS_ENST00000514254.2_3'UTR|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3997	AAA 6. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AACTCAACATGAGGGCAACTT	0.537																																						uc001uft.3		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(11989-11991)ATG>ATA		dynein, axonemal, heavy chain 10							38.0	38.0	38.0					12																	124413860		2046	4195	6241	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124413860G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.11991G>A	12.37:g.124413860G>A	ENSP00000386770:p.Met3997Ile					DNAH10_uc001ufu.3_5'UTR	p.M3997I	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	70	12016	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3997			AAA 6 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.11991G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432720	0.62844	.	.	ENSG00000197653	ENST00000409039	T	0.08282	3.11	5.16	5.16	0.70880	Dynein heavy chain (1);	0.132226	0.64402	D	0.000002	T	0.12646	0.0307	L	0.39147	1.195	0.80722	D	1	B	0.30889	0.299	B	0.37692	0.256	T	0.08229	-1.0732	10	0.45353	T;T	0.12;0.12	.	19.0105	0.92871	0.0:0.0:1.0:0.0	.	3997	Q8IVF4	DYH10_HUMAN	I	3997	ENSP00000386770:M3997I	ENSP00000386770:M3997I;ENSP00000386770:M3997I	M	+	3	0	DNAH10	122979813	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.769000	0.74985	2.570000	0.86706	0.591000	0.81541	ATG		0.537	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			4	16	0	0	0	0	4	16				
SPACA7	122258	broad.mit.edu	37	13	113030784	113030784	+	Missense_Mutation	SNP	G	G	A	rs201127697		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr13:113030784G>A	ENST00000283550.3	+	1	152	c.85G>A	c.(85-87)Gtg>Atg	p.V29M		NM_145248.4	NP_660291.2	Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	29						acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						GCCGAGAACCGTGATTCCAGG	0.592																																						uc001vsd.1		NA																	0					0						c.(85-87)GTG>ATG		hypothetical protein LOC122258 precursor		G	MET/VAL	0,4406		0,0,2203	56.0	46.0	49.0		85	-3.4	0.0	13		49	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPACA7	NM_145248.4	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	29/196	113030784	1,13005	2203	4300	6503	SO:0001583	missense	122258					extracellular region		g.chr13:113030784G>A	BC016750	CCDS9524.1	13q34	2013-10-11	2011-03-15	2011-03-15	ENSG00000153498	ENSG00000153498			29575	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 28"""	C13orf28		22495889	Standard	NM_145248		Approved		uc001vsd.2	Q96KW9	OTTHUMG00000017365	ENST00000283550.3:c.85G>A	13.37:g.113030784G>A	ENSP00000283550:p.Val29Met						p.V29M	NM_145248	NP_660291	Q96KW9	SPAC7_HUMAN			1	116	+	all_lung(23;0.000633)|Lung NSC(43;0.0161)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0997)|Medulloblastoma(90;0.163)		29					Q5T8L1	Missense_Mutation	SNP	ENST00000283550.3	37	c.85G>A	CCDS9524.1	.	.	.	.	.	.	.	.	.	.	G	6.692	0.496222	0.12762	0.0	1.16E-4	ENSG00000153498	ENST00000283550	T	0.43294	0.95	3.58	-3.36	0.04913	.	.	.	.	.	T	0.14700	0.0355	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.14364	-1.0475	9	0.48119	T	0.1	2.0E-4	0.4612	0.00516	0.4195:0.1819:0.222:0.1767	.	29	Q96KW9	SPAC7_HUMAN	M	29	ENSP00000283550:V29M	ENSP00000283550:V29M	V	+	1	0	SPACA7	112078785	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.497000	0.06428	-0.557000	0.06126	-0.678000	0.03780	GTG		0.592	SPACA7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045820.2	NM_145248		17	10	0	0	0	0	17	10				
OR4M1	441670	broad.mit.edu	37	14	20248671	20248671	+	Missense_Mutation	SNP	G	G	T	rs114064896	byFrequency	TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr14:20248671G>T	ENST00000315957.4	+	1	271	c.190G>T	c.(190-192)Gct>Tct	p.A64S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTCCTGTTGGCTAATCTGGC	0.408																																						uc010tku.1		NA																	0					0						c.(190-192)GCT>TCT		olfactory receptor, family 4, subfamily M,							313.0	330.0	324.0					14																	20248671		2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248671G>T		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.190G>T	14.37:g.20248671G>T	ENSP00000319654:p.Ala64Ser						p.A64S	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	190	+	all_cancers(95;0.00108)		64			Helical; Name=2; (Potential).		B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.190G>T	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	9.058	0.993861	0.19043	.	.	ENSG00000176299	ENST00000315957	T	0.01084	5.36	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000261	T	0.00784	0.0026	N	0.10685	0.025	0.26410	N	0.976277	P	0.47409	0.895	B	0.37989	0.262	T	0.63849	-0.6544	10	0.21014	T	0.42	-8.8091	14.4139	0.67135	0.0:0.0:1.0:0.0	.	64	Q8NGD0	OR4M1_HUMAN	S	64	ENSP00000319654:A64S	ENSP00000319654:A64S	A	+	1	0	OR4M1	19318511	0.000000	0.05858	1.000000	0.80357	0.963000	0.63663	-0.013000	0.12678	2.338000	0.79540	0.401000	0.26515	GCT		0.408	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			28	442	1	0	2.61e-14	4.95e-14	28	442				
METTL17	64745	broad.mit.edu	37	14	21464085	21464085	+	Missense_Mutation	SNP	C	C	A	rs374333448		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr14:21464085C>A	ENST00000339374.6	+	11	1204	c.971C>A	c.(970-972)cCt>cAt	p.P324H	METTL17_ENST00000556670.2_Missense_Mutation_p.P324H|RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000382985.4_Missense_Mutation_p.P324H	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	324					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CCTTTGGACCCTCGACCTGGT	0.453																																						uc001vyn.2		NA																	0					0						c.(970-972)CCT>CAT		methyltransferase 11 domain containing 1 isoform							145.0	146.0	146.0					14																	21464085		2203	4300	6503	SO:0001583	missense	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21464085C>A	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.971C>A	14.37:g.21464085C>A	ENSP00000343041:p.Pro324His					METT11D1_uc001vym.2_Missense_Mutation_p.P324H|METT11D1_uc001vyo.2_Missense_Mutation_p.P324H|METT11D1_uc001vyp.2_Missense_Mutation_p.P166H|METT11D1_uc001vyq.2_Missense_Mutation_p.P166H	p.P324H	NM_022734	NP_073571	Q9H7H0	MET17_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0191)	11	1168	+	all_cancers(95;0.00267)		324					Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	ENST00000339374.6	37	c.971C>A	CCDS9562.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483206	0.44147	.	.	ENSG00000165792	ENST00000339374;ENST00000382985	T;T	0.28895	1.59;1.59	5.8	2.88	0.33553	.	0.509560	0.22078	N	0.064937	T	0.20700	0.0498	L	0.41492	1.28	0.31569	N	0.656523	B;B;B	0.14438	0.01;0.004;0.003	B;B;B	0.15052	0.01;0.012;0.007	T	0.11567	-1.0582	10	0.31617	T	0.26	.	4.7913	0.13250	0.2853:0.5489:0.0:0.1657	.	324;324;324	Q9H7H0-3;Q9H7H0;Q9H7H0-2	.;MET17_HUMAN;.	H	324	ENSP00000343041:P324H;ENSP00000372445:P324H	ENSP00000343041:P324H	P	+	2	0	METTL17	20533925	0.868000	0.29978	0.899000	0.35326	0.985000	0.73830	0.962000	0.29280	0.787000	0.33731	-0.140000	0.14226	CCT		0.453	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		15	454	1	0	2e-07	3.69e-07	15	454				
NID2	22795	broad.mit.edu	37	14	52481133	52481133	+	Silent	SNP	G	G	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr14:52481133G>T	ENST00000216286.5	-	16	3291	c.3292C>A	c.(3292-3294)Cgg>Agg	p.R1098R	NID2_ENST00000541773.1_Silent_p.R997R	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1098					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ACATCTGGCCGGGGCGTGGGC	0.617											OREG0022678	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001wzo.2		NA																	0				pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(3292-3294)CGG>AGG		nidogen 2 precursor							63.0	61.0	62.0					14																	52481133		2203	4300	6503	SO:0001819	synonymous_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52481133G>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3292C>A	14.37:g.52481133G>T			OREG0022678	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	985	NID2_uc010tqs.1_Silent_p.R1050R|NID2_uc010tqt.1_Silent_p.R1098R|NID2_uc001wzp.2_Silent_p.R1098R	p.R1098R	NM_007361	NP_031387	Q14112	NID2_HUMAN			16	3526	-	Breast(41;0.0639)|all_epithelial(31;0.123)		1098					A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	c.3292C>A	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	G	8.669	0.902493	0.17760	.	.	ENSG00000087303	ENST00000556572	D	0.82526	-1.62	6.17	2.19	0.27852	.	.	.	.	.	D	0.84406	0.5465	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.79502	-0.1777	5	.	.	.	.	11.5583	0.50761	0.0:0.1149:0.5275:0.3575	.	.	.	.	Q	366	ENSP00000452190:P366Q	.	P	-	2	0	NID2	51550883	1.000000	0.71417	0.481000	0.27354	0.674000	0.39518	3.310000	0.51911	0.125000	0.18397	0.655000	0.94253	CCG		0.617	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			22	30	1	0	2.38e-13	4.49e-13	22	30				
DAAM1	23002	broad.mit.edu	37	14	59791160	59791160	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr14:59791160C>G	ENST00000395125.1	+	7	1000	c.977C>G	c.(976-978)tCa>tGa	p.S326*	DAAM1_ENST00000351081.1_Nonsense_Mutation_p.S326*|DAAM1_ENST00000360909.3_Nonsense_Mutation_p.S326*	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	326	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CACGAAAATTCAACATTAGAT	0.363																																						uc001xdz.1		NA																	0				ovary(1)	1						c.(976-978)TCA>TGA		dishevelled-associated activator of							76.0	76.0	76.0					14																	59791160		2203	4300	6503	SO:0001587	stop_gained	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59791160C>G	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.977C>G	14.37:g.59791160C>G	ENSP00000378557:p.Ser326*					DAAM1_uc001xea.1_Nonsense_Mutation_p.S326*|DAAM1_uc001xeb.1_Nonsense_Mutation_p.S326*	p.S326*	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	8	1102	+			326			GBD/FH3.		Q86U34|Q8N1Z8|Q8TB39	Nonsense_Mutation	SNP	ENST00000395125.1	37	c.977C>G	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	C	38	7.057522	0.98032	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	.	.	.	5.33	3.35	0.38373	.	0.058625	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	10.8309	0.46659	0.1348:0.7883:0.0:0.0769	.	.	.	.	X	326	.	ENSP00000247170:S326X	S	+	2	0	DAAM1	58860913	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.863000	0.69568	1.465000	0.48006	0.655000	0.94253	TCA		0.363	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		3	49	0	0	0	0	3	49				
DCAF4	26094	broad.mit.edu	37	14	73408452	73408452	+	Splice_Site	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr14:73408452G>C	ENST00000358377.2	+	5	571		c.e5-1		DCAF4_ENST00000353777.3_Intron|DCAF4_ENST00000553457.1_Splice_Site|DCAF4_ENST00000555042.1_Splice_Site|DCAF4_ENST00000509153.1_Intron|DCAF4_ENST00000394234.2_Splice_Site	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4						protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						AATAAATATAGATTGCCAGGA	0.368																																						uc001xng.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.e5-1		DDB1 and CUL4 associated factor 4 isoform 1							107.0	114.0	112.0					14																	73408452		2203	4300	6503	SO:0001630	splice_region_variant	26094					CUL4 RING ubiquitin ligase complex		g.chr14:73408452G>C	BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20229	protein-coding gene	gene with protein product			"""WD repeat domain 21"", ""WD repeat domain 21A"""	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.352-1G>C	14.37:g.73408452G>C						DCAF4_uc001xnj.2_Splice_Site_p.I118_splice|DCAF4_uc010ttr.1_Splice_Site_p.I96_splice|DCAF4_uc001xnh.2_Splice_Site_p.I18_splice|DCAF4_uc010tts.1_Intron|DCAF4_uc010ttt.1_Splice_Site|DCAF4_uc001xni.2_Intron|DCAF4_uc001xnk.2_Splice_Site_p.I118_splice	p.I118_splice	NM_015604	NP_056419	Q8WV16	DCAF4_HUMAN			5	572	+								B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Splice_Site	SNP	ENST00000358377.2	37	c.352_splice	CCDS9809.1	.	.	.	.	.	.	.	.	.	.	G	8.001	0.755502	0.15846	.	.	ENSG00000119599	ENST00000358377;ENST00000394234;ENST00000555042;ENST00000553457	.	.	.	4.31	1.94	0.25998	.	.	.	.	.	.	.	.	.	.	.	0.26121	N	0.980541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6497	0.17610	0.7597:0.0:0.2403:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCAF4	72478205	1.000000	0.71417	0.003000	0.11579	0.244000	0.25665	3.925000	0.56484	0.184000	0.20083	0.313000	0.20887	.		0.368	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1	NM_015604	Intron	39	75	0	0	0	0	39	75				
OTUB2	78990	broad.mit.edu	37	14	94511065	94511065	+	Missense_Mutation	SNP	G	G	A	rs373645481		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr14:94511065G>A	ENST00000203664.5	+	5	646	c.437G>A	c.(436-438)cGa>cAa	p.R146Q		NM_023112.3	NP_075601.1	Q96DC9	OTUB2_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 2	146	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular amino acid metabolic process (GO:0006520)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		ATCAGGAACCGAGCAGACTTC	0.587																																						uc001yci.2		NA																	0					0						c.(436-438)CGA>CAA		OTU domain, ubiquitin aldehyde binding 2							92.0	74.0	80.0					14																	94511065		2203	4300	6503	SO:0001583	missense	78990				cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination		omega peptidase activity|protein binding|ubiquitin-specific protease activity	g.chr14:94511065G>A	AF318378	CCDS9917.1	14q32.13-q32.2	2014-02-24	2014-02-24	2004-05-28		ENSG00000089723		"""OTU domain containing"""	20351	protein-coding gene	gene with protein product		608338	"""chromosome 14 open reading frame 137"", ""OTU domain, ubiquitin aldehyde binding 2"""	C14orf137		12704427, 19996094	Standard	NM_023112		Approved	FLJ21916, MGC3102	uc001ych.4	Q96DC9		ENST00000203664.5:c.437G>A	14.37:g.94511065G>A	ENSP00000203664:p.Arg146Gln						p.R146Q	NM_023112	NP_075601	Q96DC9	OTUB2_HUMAN		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)	5	597	+		all_cancers(154;0.12)	146			OTU.		Q6IA10|Q9H6T1	Missense_Mutation	SNP	ENST00000203664.5	37	c.437G>A	CCDS9917.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306848	0.60305	.	.	ENSG00000089723	ENST00000203664	T	0.42900	0.96	5.63	5.63	0.86233	Ovarian tumour, otubain (1);	0.233289	0.38164	N	0.001796	T	0.29684	0.0741	L	0.38953	1.18	0.80722	D	1	P	0.41131	0.739	B	0.23716	0.048	T	0.11397	-1.0589	10	0.36615	T	0.2	-7.1168	17.1763	0.86842	0.0:0.0:1.0:0.0	.	146	Q96DC9	OTUB2_HUMAN	Q	146	ENSP00000203664:R146Q	ENSP00000203664:R146Q	R	+	2	0	OTUB2	93580818	1.000000	0.71417	0.966000	0.40874	0.894000	0.52154	4.120000	0.57897	2.659000	0.90383	0.561000	0.74099	CGA		0.587	OTUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412855.1			19	25	0	0	0	0	19	25				
TCL1A	8115	broad.mit.edu	37	14	96178699	96178699	+	Missense_Mutation	SNP	C	C	T	rs146705048		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr14:96178699C>T	ENST00000402399.1	-	2	284	c.155G>A	c.(154-156)cGt>cAt	p.R52H	RP11-164H13.1_ENST00000547644.2_RNA|TCL1A_ENST00000554012.1_Missense_Mutation_p.R52H|TCL1A_ENST00000556450.1_Missense_Mutation_p.R52H|RP11-164H13.1_ENST00000553445.1_RNA|TCL1A_ENST00000555202.1_Missense_Mutation_p.R52H	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A	52					multicellular organismal development (GO:0007275)|stem cell maintenance (GO:0019827)	cell cortex (GO:0005938)|endoplasmic reticulum (GO:0005783)|pronucleus (GO:0045120)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		GTCTTCCCGACGCAAGAGCAC	0.567			T	TRA@	T-CLL								C|||	1	0.000199681	0.0	0.0	5008	,	,		19170	0.0		0.001	False		,,,				2504	0.0				Ovarian(96;1068 2019 35393 39316)	uc001yfc.3		NA		Dom	yes		14	14q32.1	8115	T	T-cell leukemia/lymphoma 1A			L	TRA@		T-CLL		0				lung(1)	1						c.(154-156)CGT>CAT		T-cell leukemia/lymphoma 1A		C	HIS/ARG,HIS/ARG	0,4406	2.1+/-5.4	0,0,2203	76.0	81.0	79.0		155,155	2.7	0.2	14	dbSNP_134	79	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	TCL1A	NM_001098725.1,NM_021966.2	29,29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging	52/115,52/115	96178699	3,13003	2203	4300	6503	SO:0001583	missense	8115				multicellular organismal development	endoplasmic reticulum|microsome		g.chr14:96178699C>T	X82240	CCDS9941.1	14q32.1	2008-07-03				ENSG00000100721			11648	protein-coding gene	gene with protein product		186960				2783489, 7809072	Standard	NM_021966		Approved	TCL1	uc001yfb.4	P56279		ENST00000402399.1:c.155G>A	14.37:g.96178699C>T	ENSP00000385036:p.Arg52His					TCL1A_uc001yfb.3_Missense_Mutation_p.R52H	p.R52H	NM_001098725	NP_001092195	P56279	TCL1A_HUMAN		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)	2	285	-		all_cancers(154;0.103)	52					Q6IBK7	Missense_Mutation	SNP	ENST00000402399.1	37	c.155G>A	CCDS9941.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.88	2.963833	0.53507	0.0	3.49E-4	ENSG00000100721	ENST00000554012;ENST00000402399;ENST00000556450;ENST00000555202	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	3.61	2.71	0.32032	.	0.139845	0.35151	N	0.003401	T	0.53465	0.1798	M	0.73598	2.24	0.09310	N	0.999992	D	0.89917	1.0	D	0.75484	0.986	T	0.36212	-0.9757	10	0.62326	D	0.03	-28.032	6.843	0.23973	0.0:0.8743:0.0:0.1257	.	52	P56279	TCL1A_HUMAN	H	52	ENSP00000451506:R52H;ENSP00000385036:R52H;ENSP00000450701:R52H;ENSP00000450496:R52H	ENSP00000385036:R52H	R	-	2	0	TCL1A	95248452	0.220000	0.23631	0.174000	0.22961	0.003000	0.03518	0.399000	0.20916	1.102000	0.41551	0.462000	0.41574	CGT		0.567	TCL1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413246.1			21	96	0	0	0	0	21	96				
DUOX1	53905	broad.mit.edu	37	15	45433157	45433157	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr15:45433157G>A	ENST00000321429.4	+	14	1861	c.1454G>A	c.(1453-1455)gGa>gAa	p.G485E	DUOX1_ENST00000389037.3_Missense_Mutation_p.G485E|DUOX1_ENST00000561166.1_Missense_Mutation_p.G131E	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	485	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTCCCTGGGGGACTCCTGGAG	0.572																																						uc001zus.1		NA																	0				ovary(5)|skin(2)|breast(1)	8						c.(1453-1455)GGA>GAA		dual oxidase 1 precursor							93.0	93.0	93.0					15																	45433157		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45433157G>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.1454G>A	15.37:g.45433157G>A	ENSP00000317997:p.Gly485Glu					DUOX1_uc001zut.1_Missense_Mutation_p.G485E|DUOX1_uc010bee.1_5'UTR	p.G485E	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	14	1800	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	485			Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential).		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.1454G>A	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934437	0.73442	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.72167	-0.63;-0.63	4.46	3.53	0.40419	.	0.102802	0.64402	D	0.000002	D	0.84352	0.5453	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85845	0.1400	10	0.87932	D	0	-38.3937	9.893	0.41300	0.0:0.0:0.6298:0.3702	.	485	Q9NRD9	DUOX1_HUMAN	E	485	ENSP00000317997:G485E;ENSP00000373689:G485E	ENSP00000317997:G485E	G	+	2	0	DUOX1	43220449	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	5.108000	0.64609	1.217000	0.43442	0.650000	0.86243	GGA		0.572	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		27	79	0	0	0	0	27	79				
MYO5A	4644	broad.mit.edu	37	15	52632529	52632529	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr15:52632529C>A	ENST00000399231.3	-	32	4346	c.4103G>T	c.(4102-4104)cGt>cTt	p.R1368L	MYO5A_ENST00000553916.1_Missense_Mutation_p.R1341L|MYO5A_ENST00000356338.6_Missense_Mutation_p.R1341L|MYO5A_ENST00000399233.2_Missense_Mutation_p.R1365L|MYO5A_ENST00000358212.6_Missense_Mutation_p.R1368L	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1368					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)		GATCTCCCCACGGAGGGCCTC	0.637																																						uc002aby.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(4102-4104)CGT>CTT		myosin VA isoform 1							81.0	83.0	82.0					15																	52632529		1930	4118	6048	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.chr15:52632529C>A		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.4103G>T	15.37:g.52632529C>A	ENSP00000382177:p.Arg1368Leu					MYO5A_uc002abx.3_Missense_Mutation_p.R1341L|MYO5A_uc010ugd.1_Missense_Mutation_p.R90L|MYO5A_uc002abz.1_RNA|MYO5A_uc002aca.1_Missense_Mutation_p.R120L|MYO5A_uc002acb.1_Missense_Mutation_p.R93L|MYO5A_uc002acc.1_Missense_Mutation_p.R117L	p.R1368L	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	32	4347	-			1368			Potential.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.4103G>T	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596772	0.66332	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916;ENST00000399228	T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.35219	0.0924	N	0.24115	0.695	0.80722	D	1	B;D;P;B;B	0.89917	0.007;1.0;0.548;0.006;0.01	B;D;B;B;B	0.91635	0.005;0.999;0.283;0.006;0.005	T	0.02464	-1.1155	10	0.28530	T	0.3	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	98;158;161;1368;1341	B5LY56;Q9UES5;O95317;Q9Y4I1;Q9Y4I1-2	.;.;.;MYO5A_HUMAN;.	L	1368;875;1365;1341;1368;971;1341;158	ENSP00000382177:R1368L;ENSP00000382179:R1365L;ENSP00000348693:R1341L;ENSP00000350945:R1368L;ENSP00000451109:R1341L;ENSP00000382174:R158L	ENSP00000348693:R1341L	R	-	2	0	MYO5A	50419821	0.972000	0.33761	0.974000	0.42286	0.994000	0.84299	2.422000	0.44696	2.861000	0.98227	0.655000	0.94253	CGT		0.637	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		19	82	1	0	5.04e-11	9.44e-11	19	82				
HERC1	8925	broad.mit.edu	37	15	63978604	63978604	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr15:63978604T>C	ENST00000443617.2	-	34	6266	c.6179A>G	c.(6178-6180)tAt>tGt	p.Y2060C	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2060	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGCCAATCCATATCCTTTCCC	0.408																																						uc002amp.2		NA																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(6178-6180)TAT>TGT		hect domain and RCC1-like domain 1							180.0	184.0	183.0					15																	63978604		1941	4149	6090	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63978604T>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6179A>G	15.37:g.63978604T>C	ENSP00000390158:p.Tyr2060Cys						p.Y2060C	NM_003922	NP_003913	Q15751	HERC1_HUMAN			34	6327	-			2060			B30.2/SPRY.		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.6179A>G	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	18.88	3.718163	0.68844	.	.	ENSG00000103657	ENST00000443617	T	0.58210	0.35	5.11	5.11	0.69529	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.079005	0.52532	D	0.000074	T	0.70316	0.3210	M	0.65975	2.015	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.74188	-0.3746	10	0.87932	D	0	.	15.0544	0.71901	0.0:0.0:0.0:1.0	.	2060	Q15751	HERC1_HUMAN	C	2060	ENSP00000390158:Y2060C	ENSP00000390158:Y2060C	Y	-	2	0	HERC1	61765657	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.868000	0.87116	2.142000	0.66516	0.533000	0.62120	TAT		0.408	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		80	143	0	0	0	0	80	143				
VWA9	81556	broad.mit.edu	37	15	65888131	65888131	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr15:65888131C>T	ENST00000395644.4	-	7	1116	c.781G>A	c.(781-783)Gat>Aat	p.D261N	VWA9_ENST00000569491.1_Missense_Mutation_p.D212N|VWA9_ENST00000567744.1_Missense_Mutation_p.D297N|VWA9_ENST00000442903.3_Missense_Mutation_p.D225N|VWA9_ENST00000420799.2_Missense_Mutation_p.D204N|VWA9_ENST00000431261.2_Missense_Mutation_p.D182N|VWA9_ENST00000313182.2_Missense_Mutation_p.D261N			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	261																	CTTGAAATATCAGCTATATCA	0.353																																						uc002apd.2		NA																	0				ovary(1)	1						c.(781-783)GAT>AAT		hypothetical protein LOC81556 isoform 2							91.0	86.0	88.0					15																	65888131		2201	4299	6500	SO:0001583	missense	81556							g.chr15:65888131C>T	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.781G>A	15.37:g.65888131C>T	ENSP00000379006:p.Asp261Asn					C15orf44_uc010uix.1_Missense_Mutation_p.D297N|C15orf44_uc010uiz.1_Missense_Mutation_p.D225N|C15orf44_uc010uja.1_Missense_Mutation_p.D212N|C15orf44_uc010ujb.1_Missense_Mutation_p.D182N|C15orf44_uc002ape.3_Missense_Mutation_p.D261N|C15orf44_uc010uiy.1_Missense_Mutation_p.D182N	p.D261N	NM_030800	NP_110427	Q96SY0	CO044_HUMAN			7	1117	-			261					B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Missense_Mutation	SNP	ENST00000395644.4	37	c.781G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.853575	0.97030	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000431261;ENST00000420799;ENST00000442903	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.83862	0.5346	M	0.81112	2.525	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.87578	0.998;0.974;0.922;0.922	D	0.84361	0.0538	9	0.66056	D	0.02	-27.9654	20.022	0.97508	0.0:1.0:0.0:0.0	.	212;225;297;261	B4DWZ3;B4DVT3;B4DJL6;Q96SY0	.;.;.;CO044_HUMAN	N	261;261;182;204;225	.	ENSP00000326379:D261N	D	-	1	0	C15orf44	63675184	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.827000	0.97445	0.655000	0.94253	GAT		0.353	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	NM_030800		7	32	0	0	0	0	7	32				
MYO9A	4649	broad.mit.edu	37	15	72244166	72244166	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr15:72244166G>A	ENST00000356056.5	-	15	2726	c.2254C>T	c.(2254-2256)Cac>Tac	p.H752Y	MYO9A_ENST00000444904.1_Missense_Mutation_p.H733Y|MYO9A_ENST00000424560.1_Missense_Mutation_p.H752Y|MYO9A_ENST00000564571.1_Missense_Mutation_p.H752Y|MYO9A_ENST00000566885.1_Missense_Mutation_p.H347Y|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	752	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTCCTCTGGTGGACTGGGTGT	0.383																																						uc002atl.3		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2254-2256)CAC>TAC		myosin IXA							196.0	185.0	189.0					15																	72244166		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72244166G>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.2254C>T	15.37:g.72244166G>A	ENSP00000348349:p.His752Tyr					MYO9A_uc010biq.2_Missense_Mutation_p.H347Y|MYO9A_uc002atn.1_Missense_Mutation_p.H733Y	p.H752Y	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			15	2727	-			752					B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.2254C>T	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643284	0.87859	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	D;D;D	0.85258	-1.96;-1.95;-1.95	5.09	5.09	0.68999	Myosin head, motor domain (1);	.	.	.	.	D	0.85401	0.5688	L	0.34521	1.04	0.80722	D	1	D;B;D	0.69078	0.997;0.418;0.97	P;B;P	0.61592	0.891;0.079;0.805	T	0.79836	-0.1635	9	0.02654	T	1	.	18.8492	0.92220	0.0:0.0:1.0:0.0	.	733;733;752	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	Y	752;752;733;733	ENSP00000348349:H752Y;ENSP00000399162:H752Y;ENSP00000398250:H733Y	ENSP00000261864:H733Y	H	-	1	0	MYO9A	70031220	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.713000	0.98740	2.514000	0.84764	0.563000	0.77884	CAC		0.383	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		24	134	0	0	0	0	24	134				
PKM	5315	broad.mit.edu	37	15	72509817	72509817	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr15:72509817G>A	ENST00000335181.5	-	3	282	c.179C>T	c.(178-180)aCg>aTg	p.T60M	PKM_ENST00000565154.1_Missense_Mutation_p.T60M|PKM_ENST00000389093.3_Missense_Mutation_p.T60M|PKM_ENST00000449901.2_Intron|PKM_ENST00000568883.1_Intron|PKM_ENST00000565184.1_Missense_Mutation_p.T60M|PKM_ENST00000319622.6_Missense_Mutation_p.T60M|PKM_ENST00000568459.1_Missense_Mutation_p.T60M	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	60					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	CTCCTTCAACGTCTCCACTGA	0.408																																						uc002atx.1		NA																	0				breast(1)	1						c.(178-180)ACG>ATG		pyruvate kinase, muscle isoform M1	Pyruvic acid(DB00119)						108.0	101.0	103.0					15																	72509817		2199	4297	6496	SO:0001583	missense	5315				glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity	g.chr15:72509817G>A	M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.179C>T	15.37:g.72509817G>A	ENSP00000334983:p.Thr60Met					PKM2_uc010bit.1_Missense_Mutation_p.T65M|PKM2_uc010uki.1_Missense_Mutation_p.T134M|PKM2_uc002atv.1_Missense_Mutation_p.T95M|PKM2_uc002atw.1_Missense_Mutation_p.T60M|PKM2_uc002aty.1_Missense_Mutation_p.T60M|PKM2_uc010ukj.1_Intron|PKM2_uc010ukk.1_Intron|PKM2_uc010biu.1_Missense_Mutation_p.T81M|PKM2_uc002atz.1_RNA	p.T60M	NM_182471	NP_872271	P14618	KPYM_HUMAN			3	420	-			60					A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Missense_Mutation	SNP	ENST00000335181.5	37	c.179C>T	CCDS32284.1	.	.	.	.	.	.	.	.	.	.	G	3.508	-0.100299	0.06967	.	.	ENSG00000067225	ENST00000319622;ENST00000335181;ENST00000389093	T;T;T	0.62639	0.01;0.01;0.01	4.74	-9.47	0.00594	Pyruvate/Phosphoenolpyruvate kinase (2);Pyruvate kinase, barrel (1);	0.500496	0.23868	N	0.043766	T	0.26159	0.0638	N	0.04636	-0.2	0.09310	N	1	B;B;B;B	0.15473	0.002;0.008;0.013;0.003	B;B;B;B	0.10450	0.001;0.002;0.005;0.001	T	0.20538	-1.0272	10	0.11182	T	0.66	-18.892	9.7073	0.40222	0.7518:0.0652:0.0872:0.0958	.	60;60;60;60	B4DRT3;E7EUQ8;P14618;P14618-2	.;.;KPYM_HUMAN;.	M	60	ENSP00000320171:T60M;ENSP00000334983:T60M;ENSP00000373745:T60M	ENSP00000320171:T60M	T	-	2	0	PKM2	70296871	0.000000	0.05858	0.000000	0.03702	0.953000	0.61014	-0.852000	0.04308	-2.900000	0.00312	-0.670000	0.03821	ACG		0.408	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1			13	69	0	0	0	0	13	69				
ARIH1	25820	broad.mit.edu	37	15	72873104	72873104	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr15:72873104C>G	ENST00000379887.4	+	12	1562	c.1248C>G	c.(1246-1248)ttC>ttG	p.F416L	ARIH1_ENST00000562891.1_3'UTR	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	416					cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						GGTACCTGTTCTACTGTAATC	0.418																																						uc002aut.3		NA																	0					0						c.(1246-1248)TTC>TTG		ariadne ubiquitin-conjugating enzyme E2 binding							80.0	66.0	71.0					15																	72873104		2198	4297	6495	SO:0001583	missense	25820				ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:72873104C>G	AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"""ariadne, Drosophila, homolog of"""	605624	"""ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1"", ""ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"""			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.1248C>G	15.37:g.72873104C>G	ENSP00000369217:p.Phe416Leu						p.F416L	NM_005744	NP_005735	Q9Y4X5	ARI1_HUMAN			12	1562	+			416					B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Missense_Mutation	SNP	ENST00000379887.4	37	c.1248C>G	CCDS10244.1	.	.	.	.	.	.	.	.	.	.	C	35	5.494885	0.96339	.	.	ENSG00000166233	ENST00000379887;ENST00000299305	D	0.86432	-2.12	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.93979	0.8072	M	0.91612	3.225	0.80722	D	1	D	0.59357	0.985	P	0.55923	0.787	D	0.93997	0.7272	10	0.51188	T	0.08	.	20.0756	0.97742	0.0:1.0:0.0:0.0	.	416	Q9Y4X5	ARI1_HUMAN	L	416;386	ENSP00000369217:F416L	ENSP00000299305:F386L	F	+	3	2	ARIH1	70660158	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.394000	0.79862	2.763000	0.94921	0.650000	0.86243	TTC		0.418	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	NM_005744		7	43	0	0	0	0	7	43				
TSC2	7249	broad.mit.edu	37	16	2121792	2121792	+	Missense_Mutation	SNP	G	G	C	rs397515226		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr16:2121792G>C	ENST00000219476.3	+	19	2584	c.1954G>C	c.(1954-1956)Gag>Cag	p.E652Q	TSC2_ENST00000350773.4_Missense_Mutation_p.E652Q|TSC2_ENST00000439673.2_Missense_Mutation_p.E615Q|TSC2_ENST00000401874.2_Missense_Mutation_p.E652Q|TSC2_ENST00000382538.6_Missense_Mutation_p.E603Q|TSC2_ENST00000568454.1_Missense_Mutation_p.E663Q|TSC2_ENST00000353929.4_Missense_Mutation_p.E652Q	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	652					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAGGGAGCCAGAGAGAGGCTC	0.662			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc002con.2		NA	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	D|Mis|N|F|S	tuberous sclerosis 2 gene			"""E, O"""		hamartoma|renal cell			0				central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10						c.(1954-1956)GAG>CAG		tuberous sclerosis 2 isoform 1							10.0	12.0	12.0					16																	2121792		2189	4293	6482	SO:0001583	missense	7249	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2121792G>C	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1954G>C	16.37:g.2121792G>C	ENSP00000219476:p.Glu652Gln					TSC2_uc010bsd.2_Missense_Mutation_p.E652Q|TSC2_uc002coo.2_Missense_Mutation_p.E652Q|TSC2_uc010uvv.1_Missense_Mutation_p.E615Q|TSC2_uc010uvw.1_Missense_Mutation_p.E603Q|TSC2_uc002cop.2_Missense_Mutation_p.E452Q	p.E652Q	NM_000548	NP_000539	P49815	TSC2_HUMAN			19	2060	+		Hepatocellular(780;0.0202)	652					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.1954G>C	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.624098	0.46840	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16;-2.16	5.45	5.45	0.79879	Tuberin-type domain (1);	0.054082	0.64402	D	0.000001	D	0.85256	0.5655	N	0.22421	0.69	0.36620	D	0.875714	B;B;B;B;B;P	0.35493	0.29;0.411;0.246;0.411;0.374;0.505	P;P;B;P;B;B	0.46275	0.51;0.455;0.283;0.455;0.176;0.266	D	0.87553	0.2466	10	0.46703	T	0.11	-26.0612	16.4337	0.83864	0.0:0.0:1.0:0.0	.	603;615;652;652;652;652	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	Q	652;652;652;615;603;652	ENSP00000219476:E652Q;ENSP00000384468:E652Q;ENSP00000248099:E652Q;ENSP00000399232:E615Q;ENSP00000371978:E603Q;ENSP00000344383:E652Q	ENSP00000219476:E652Q	E	+	1	0	TSC2	2061793	1.000000	0.71417	0.136000	0.22124	0.387000	0.30353	8.758000	0.91663	2.551000	0.86045	0.462000	0.41574	GAG		0.662	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		3	13	0	0	0	0	3	13				
TRAF7	84231	broad.mit.edu	37	16	2218133	2218133	+	Silent	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr16:2218133C>T	ENST00000326181.6	+	4	327	c.195C>T	c.(193-195)acC>acT	p.T65T		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	65					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CCTCCAGCACCCTTGCCTACT	0.672																																						uc002cow.2		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.(193-195)ACC>ACT		TNF receptor-associated factor 7							98.0	75.0	83.0					16																	2218133		2198	4300	6498	SO:0001819	synonymous_variant	84231				activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:2218133C>T	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.195C>T	16.37:g.2218133C>T							p.T65T	NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN			4	294	+			65					Q9H073	Silent	SNP	ENST00000326181.6	37	c.195C>T	CCDS10461.1																																																																																				0.672	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	NM_032271		5	17	0	0	0	0	5	17				
HIRIP3	8479	broad.mit.edu	37	16	30002132	30002132	+	IGR	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr16:30002132G>A	ENST00000279392.3	-	0	3385				TAOK2_ENST00000279394.3_Missense_Mutation_p.E825K	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CCAGGAGGCAGAGTTCCAGGC	0.602																																						uc002dvc.1		NA																	0				ovary(1)	1						c.(2473-2475)GAG>AAG		TAO kinase 2 isoform 1							45.0	51.0	49.0					16																	30002132		2197	4300	6497	SO:0001628	intergenic_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:30002132G>A	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118		16.37:g.30002132G>A						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron	p.E825K	NM_004783	NP_004774	Q9UL54	TAOK2_HUMAN			18	3256	+			704			Potential.		H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	c.2473G>A	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519308	0.85495	.	.	ENSG00000149930	ENST00000279394	T	0.80033	-1.33	4.87	4.87	0.63330	.	.	.	.	.	D	0.85509	0.5713	M	0.86028	2.79	0.80722	D	1	P	0.50617	0.937	P	0.47134	0.539	D	0.87593	0.2492	8	.	.	.	.	16.9296	0.86187	0.0:0.0:1.0:0.0	.	825	Q9UL54-2	.	K	825	ENSP00000279394:E825K	.	E	+	1	0	TAOK2	29909633	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	7.709000	0.84645	2.528000	0.85240	0.563000	0.77884	GAG		0.602	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		9	54	0	0	0	0	9	54				
CTCF	10664	broad.mit.edu	37	16	67660529	67660529	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr16:67660529C>T	ENST00000264010.4	+	8	1873	c.1429C>T	c.(1429-1431)Cat>Tat	p.H477Y	CTCF_ENST00000401394.1_Missense_Mutation_p.H149Y	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	477					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TGCTGTGTTTCATGAGCGCTA	0.463																																					Colon(175;1200 1966 6945 23069 27405)	uc002etl.2		NA																	0				ovary(1)	1						c.(1429-1431)CAT>TAT		CCCTC-binding factor							120.0	96.0	104.0					16																	67660529		2198	4300	6498	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67660529C>T	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1429C>T	16.37:g.67660529C>T	ENSP00000264010:p.His477Tyr					CTCF_uc010cek.2_Missense_Mutation_p.H149Y|CTCF_uc002etm.1_5'Flank	p.H477Y	NM_006565	NP_006556	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	8	1719	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	477			C2H2-type 8.		B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.1429C>T	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029426	0.93518	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.40756	1.02;1.02	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000003	T	0.50377	0.1612	N	0.19112	0.55	0.80722	D	1	D	0.57899	0.981	D	0.65140	0.932	T	0.54807	-0.8238	10	0.59425	D	0.04	-3.9457	19.0968	0.93255	0.0:1.0:0.0:0.0	.	477	P49711	CTCF_HUMAN	Y	477;149	ENSP00000264010:H477Y;ENSP00000384707:H149Y	ENSP00000264010:H477Y	H	+	1	0	CTCF	66218030	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.596000	0.87737	0.561000	0.74099	CAT		0.463	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		11	48	0	0	0	0	11	48				
CDH13	1012	broad.mit.edu	37	16	83159053	83159053	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr16:83159053C>T	ENST00000566620.1	+	4	720	c.430C>T	c.(430-432)Ccc>Tcc	p.P144S	CDH13_ENST00000428848.3_Intron|CDH13_ENST00000446376.2_Missense_Mutation_p.P144S|CDH13_ENST00000431540.3_Missense_Mutation_p.P144S|CDH13_ENST00000268613.10_Missense_Mutation_p.P191S|CDH13_ENST00000565636.1_Missense_Mutation_p.P144S|CDH13_ENST00000569454.1_3'UTR	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	144	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TGTGGTATCTCCCATTTTAAT	0.363																																						uc002fgx.2		NA																	0				large_intestine(1)	1						c.(430-432)CCC>TCC		cadherin 13 preproprotein							81.0	77.0	78.0					16																	83159053		1848	4101	5949	SO:0001583	missense	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83159053C>T	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.430C>T	16.37:g.83159053C>T	ENSP00000454435:p.Pro144Ser					CDH13_uc010chh.2_Missense_Mutation_p.P144S|CDH13_uc010vns.1_Missense_Mutation_p.P191S|CDH13_uc010vnt.1_5'UTR|CDH13_uc010vnu.1_Intron	p.P144S	NM_001257	NP_001248	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	4	550	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	144			Cadherin 1.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	c.430C>T	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.053359	0.36181	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000431540;ENST00000446376	T;T;T	0.73152	-0.72;-0.72;-0.72	5.22	4.25	0.50352	Cadherin-like (2);	.	.	.	.	T	0.59824	0.2222	L	0.41632	1.29	0.24821	N	0.992585	B;B;B	0.28900	0.053;0.227;0.006	B;B;B	0.25506	0.055;0.061;0.001	T	0.54708	-0.8253	9	0.62326	D	0.03	.	8.5315	0.33337	0.0:0.8249:0.0:0.1751	.	191;144;144	B7Z9B1;A8W477;P55290	.;.;CAD13_HUMAN	S	191;144;144;144	ENSP00000268613:P191S;ENSP00000408632:P144S;ENSP00000388804:P144S	ENSP00000268613:P191S	P	+	1	0	CDH13	81716554	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	1.036000	0.30228	2.595000	0.87683	0.563000	0.77884	CCC		0.363	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		14	28	0	0	0	0	14	28				
FBXO31	79791	broad.mit.edu	37	16	87365041	87365041	+	Silent	SNP	G	G	A	rs141426651		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr16:87365041G>A	ENST00000311635.7	-	9	1485	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F	RP11-178L8.4_ENST00000568879.1_Intron	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	491					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		GGTCCTCATCGAAGAGGATGA	0.612																																						uc002fjw.2		NA																	0				lung(1)	1						c.(1471-1473)TTC>TTT		F-box protein 31		G		1,4395	2.1+/-5.4	0,1,2197	36.0	38.0	37.0		1473	-9.7	0.1	16	dbSNP_134	37	0,8600		0,0,4300	no	coding-synonymous	FBXO31	NM_024735.3		0,1,6497	AA,AG,GG		0.0,0.0227,0.0077		491/540	87365041	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	79791				cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	g.chr16:87365041G>A	BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.1473C>T	16.37:g.87365041G>A						FBXO31_uc010vot.1_Silent_p.F319F|FBXO31_uc002fjv.2_Silent_p.F383F	p.F491F	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	9	1517	-			491					Q5K680|Q8WYV1|Q96D73|Q9UFV4	Silent	SNP	ENST00000311635.7	37	c.1473C>T	CCDS32501.1																																																																																				0.612	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	NM_024735		11	24	0	0	0	0	11	24				
ASGR1	432	broad.mit.edu	37	17	7077514	7077514	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr17:7077514G>T	ENST00000269299.3	-	7	936	c.537C>A	c.(535-537)gaC>gaA	p.D179E	ASGR1_ENST00000574388.1_Missense_Mutation_p.D140E|ASGR1_ENST00000572879.1_Missense_Mutation_p.D39E|ASGR1_ENST00000380920.4_Missense_Mutation_p.D78E	NM_001197216.2|NM_001671.4	NP_001184145.1|NP_001662.1	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	179	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular response to extracellular stimulus (GO:0031668)|receptor-mediated endocytosis (GO:0006898)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						GGCAGTAGTTGTCGGCGTCAG	0.677																																						uc002ges.3		NA																	0				breast(1)|central_nervous_system(1)	2						c.(535-537)GAC>GAA		asialoglycoprotein receptor 1							82.0	83.0	82.0					17																	7077514		2203	4300	6503	SO:0001583	missense	432				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding	g.chr17:7077514G>T		CCDS11089.1, CCDS56017.1	17p13-p11	2011-08-30			ENSG00000141505	ENSG00000141505		"""C-type lectin domain containing"""	742	protein-coding gene	gene with protein product		108360					Standard	NM_001671		Approved	CLEC4H1	uc002ges.4	P07306	OTTHUMG00000102159	ENST00000269299.3:c.537C>A	17.37:g.7077514G>T	ENSP00000269299:p.Asp179Glu					ASGR1_uc010clx.1_Missense_Mutation_p.D78E	p.D179E	NM_001671	NP_001662	P07306	ASGR1_HUMAN			7	947	-			179			Extracellular (Probable).|C-type lectin.		I3L1X1	Missense_Mutation	SNP	ENST00000269299.3	37	c.537C>A	CCDS11089.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.657764	0.00779	.	.	ENSG00000141505	ENST00000269299;ENST00000380920	T	0.58210	0.35	4.69	-5.26	0.02772	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.053610	0.07412	N	0.892585	T	0.16854	0.0405	N	0.00771	-1.2	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.44345	-0.9334	10	0.02654	T	1	.	11.4455	0.50120	0.0758:0.6926:0.1413:0.0904	.	179	P07306	ASGR1_HUMAN	E	179;140	ENSP00000269299:D179E	ENSP00000269299:D179E	D	-	3	2	ASGR1	7018238	0.000000	0.05858	0.007000	0.13788	0.005000	0.04900	-0.844000	0.04345	-0.521000	0.06426	-1.038000	0.02383	GAC		0.677	ASGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220004.3	NM_001671		42	60	1	0	4.44e-20	8.56e-20	42	60				
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	T	rs193920774		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr17:7577141C>T	ENST00000269305.4	-	8	986	c.797G>A	c.(796-798)gGa>gAa	p.G266E	TP53_ENST00000445888.2_Missense_Mutation_p.G266E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.G266E|TP53_ENST00000359597.4_Missense_Mutation_p.G266E|TP53_ENST00000420246.2_Missense_Mutation_p.G266E	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCTGTTCCGTCCCAGTAGATT	0.517		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		121	Substitution - Missense(95)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	p.G266E(45)|p.G266R(42)|p.G266V(32)|p.G266*(12)|p.0?(7)|p.G266fs*79(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266G(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	lung(23)|oesophagus(10)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(9)|breast(9)|upper_aerodigestive_tract(8)|ovary(8)|urinary_tract(7)|pancreas(6)|skin(5)|central_nervous_system(4)|stomach(4)|bone(4)|liver(4)|endometrium(3)|vulva(1)|kidney(1)|thyroid(1)|cervix(1)|eye(1)|genital_tract(1)|biliary_tract(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(796-798)GGA>GAA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	44.0	46.0					17																	7577141		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577141C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.797G>A	17.37:g.7577141C>T	ENSP00000269305:p.Gly266Glu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.G266E|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G134E|TP53_uc010cng.1_Missense_Mutation_p.G134E|TP53_uc002gii.1_Missense_Mutation_p.G134E|TP53_uc010cnh.1_Missense_Mutation_p.G266E|TP53_uc010cni.1_Missense_Mutation_p.G266E|TP53_uc002gij.2_Missense_Mutation_p.G266E	p.G266E	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	991	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	266		G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> A (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.797G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614795	0.87359	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99898	-7.61;-7.61;-7.61;-7.61;-7.61;-7.61	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99906	0.9955	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.998	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	E	266;266;266;266;266;255;134	ENSP00000352610:G266E;ENSP00000269305:G266E;ENSP00000398846:G266E;ENSP00000391127:G266E;ENSP00000391478:G266E;ENSP00000425104:G134E	ENSP00000269305:G266E	G	-	2	0	TP53	7517866	1.000000	0.71417	0.996000	0.52242	0.744000	0.42396	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	10	0	0	0	0	8	10				
AURKB	9212	broad.mit.edu	37	17	8108663	8108663	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr17:8108663C>T	ENST00000585124.1	-	8	825	c.732G>A	c.(730-732)atG>atA	p.M244I	AURKB_ENST00000535053.1_3'UTR|AURKB_ENST00000316199.6_Missense_Mutation_p.M245I|AURKB_ENST00000534871.1_Missense_Mutation_p.M203I|AURKB_ENST00000578549.1_Missense_Mutation_p.M212I	NM_004217.3	NP_004208.2	Q96GD4	AURKB_HUMAN	aurora kinase B	244	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				abscission (GO:0009838)|aging (GO:0007568)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|cleavage furrow formation (GO:0036089)|cytokinesis checkpoint (GO:0031565)|histone H3-S28 phosphorylation (GO:0043988)|histone modification (GO:0016570)|mitotic cell cycle (GO:0000278)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytokinesis (GO:0032467)|protein autophosphorylation (GO:0046777)|protein localization to kinetochore (GO:0034501)|protein phosphorylation (GO:0006468)|regulation of chromosome segregation (GO:0051983)|spindle checkpoint (GO:0031577)|spindle midzone assembly involved in mitosis (GO:0051256)|spindle stabilization (GO:0043146)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|central_nervous_system(1)|lung(2)	4						GCCCCTCAATCATCTCTGGGG	0.562																																					NSCLC(134;1161 2470 43664 51568)	uc002gkm.2		NA																	0				lung(2)|breast(1)|central_nervous_system(1)	4						c.(730-732)ATG>ATA		aurora kinase B							141.0	116.0	124.0					17																	8108663		2203	4300	6503	SO:0001583	missense	9212				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:8108663C>T	AF004022	CCDS11134.1, CCDS58514.1, CCDS67162.1	17p13.1	2013-01-17	2003-07-21	2003-07-23	ENSG00000178999	ENSG00000178999		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11390	protein-coding gene	gene with protein product	"""aurora-B"", ""aurora-1"", ""protein phosphatase 1, regulatory subunit 48"""	604970	"""serine/threonine kinase 12"""	STK12		9858806	Standard	NM_001256834		Approved	Aik2, IPL1, AurB, AIM-1, ARK2, STK5, PPP1R48	uc002gkm.4	Q96GD4	OTTHUMG00000108189	ENST00000585124.1:c.732G>A	17.37:g.8108663C>T	ENSP00000463999:p.Met244Ile					AURKB_uc010cnu.2_Missense_Mutation_p.M64I|AURKB_uc002gkn.2_Missense_Mutation_p.M245I|AURKB_uc010vuu.1_Missense_Mutation_p.M203I|AURKB_uc002gko.2_RNA	p.M244I	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN			8	793	-			244			Protein kinase.		B4DNM4|C7G533|C7G534|C7G535|D3DTR4|J9JID1|O14630|O60446|O95083|Q96DV5|Q9UQ46	Missense_Mutation	SNP	ENST00000585124.1	37	c.732G>A	CCDS11134.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375824	0.82682	.	.	ENSG00000178999	ENST00000316199;ENST00000534871	T	0.62364	0.03	5.4	5.4	0.78164	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	0.34600	0.0903	N	0.00648	-1.295	0.80722	D	1	P;P	0.39903	0.694;0.694	B;B	0.38880	0.284;0.284	T	0.57751	-0.7757	10	0.87932	D	0	-19.8263	16.7175	0.85400	0.0:1.0:0.0:0.0	.	244;244	C7G533;Q96GD4	.;AURKB_HUMAN	I	244;203	ENSP00000443869:M203I	ENSP00000313950:M244I	M	-	3	0	AURKB	8049388	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.610000	0.82949	2.822000	0.97130	0.650000	0.86243	ATG		0.562	AURKB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000226995.2	NM_004217		14	64	0	0	0	0	14	64				
GOSR1	9527	broad.mit.edu	37	17	28811740	28811740	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr17:28811740G>C	ENST00000225724.5	+	4	372	c.300G>C	c.(298-300)ttG>ttC	p.L100F	GOSR1_ENST00000467337.2_Missense_Mutation_p.L35F|GOSR1_ENST00000581721.1_Missense_Mutation_p.L100F|GOSR1_ENST00000451249.2_Missense_Mutation_p.L98F	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	100					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						TCCCCTCCTTGAATGCAGCCC	0.363																																						uc002hfe.2		NA																	0					0						c.(298-300)TTG>TTC		golgi SNAP receptor complex member 1 isoform 1							78.0	75.0	76.0					17																	28811740		2203	4300	6503	SO:0001583	missense	9527				intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity	g.chr17:28811740G>C	AF047438	CCDS11258.1, CCDS45643.1, CCDS45644.1	17q11	2011-04-15			ENSG00000108587	ENSG00000108587			4430	protein-coding gene	gene with protein product	"""golgi integral membrane protein 2"""	604026				8638159, 9653160, 15004235	Standard	XM_005258072		Approved	GOS28, P28, GS28, GOS-28, GOLIM2	uc002hfe.3	O95249	OTTHUMG00000132796	ENST00000225724.5:c.300G>C	17.37:g.28811740G>C	ENSP00000225724:p.Leu100Phe					GOSR1_uc002hfd.2_Missense_Mutation_p.L98F|GOSR1_uc002hff.2_Missense_Mutation_p.L35F|GOSR1_uc002hfc.1_Missense_Mutation_p.L100F	p.L100F	NM_004871	NP_004862	O95249	GOSR1_HUMAN			4	326	+			100			Cytoplasmic (Potential).		J3KST5|O75392	Missense_Mutation	SNP	ENST00000225724.5	37	c.300G>C	CCDS11258.1	.	.	.	.	.	.	.	.	.	.	G	7.693	0.691563	0.15039	.	.	ENSG00000108587	ENST00000225724;ENST00000451249;ENST00000414833;ENST00000427274;ENST00000537788	.	.	.	5.41	3.23	0.37069	.	0.072602	0.56097	D	0.000026	T	0.29190	0.0726	N	0.11427	0.14	0.52501	D	0.999959	B;B;P	0.46784	0.047;0.023;0.884	B;B;P	0.44990	0.058;0.042;0.466	T	0.08046	-1.0741	9	0.56958	D	0.05	-5.396	6.4178	0.21725	0.0796:0.1425:0.6491:0.1288	.	100;98;100	O95249;E9PCW1;Q96QI9	GOSR1_HUMAN;.;.	F	100;98;35;98;100	.	ENSP00000225724:L100F	L	+	3	2	GOSR1	25835866	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.391000	0.34475	1.257000	0.44085	0.655000	0.94253	TTG		0.363	GOSR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256208.2			7	44	0	0	0	0	7	44				
PIP4K2B	8396	broad.mit.edu	37	17	36927374	36927374	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr17:36927374T>A	ENST00000269554.3	-	8	1439	c.959A>T	c.(958-960)tAt>tTt	p.Y320F		NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	320	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						AGGTGTGCCATAGGAGCAGAG	0.597																																						uc002hqs.2		NA																	0				ovary(1)	1						c.(958-960)TAT>TTT		phosphatidylinositol-5-phosphate 4-kinase, type							187.0	145.0	159.0					17																	36927374		2203	4300	6503	SO:0001583	missense	8396				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity	g.chr17:36927374T>A	U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"""phosphatidylinositol-4-phosphate 5-kinase, type II, beta"""	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.959A>T	17.37:g.36927374T>A	ENSP00000269554:p.Tyr320Phe					PIP4K2B_uc010cvp.2_5'Flank	p.Y320F	NM_003559	NP_003550	P78356	PI42B_HUMAN			8	1440	-			320			PIPK.		Q5U0E8|Q8TBP2	Missense_Mutation	SNP	ENST00000269554.3	37	c.959A>T	CCDS11329.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.671841	0.47781	.	.	ENSG00000141720	ENST00000269554	T	0.30981	1.51	5.16	5.16	0.70880	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.063641	0.64402	D	0.000003	T	0.22898	0.0553	L	0.33668	1.02	0.50632	D	0.999888	B	0.06786	0.001	B	0.10450	0.005	T	0.06075	-1.0847	10	0.11794	T	0.64	-16.817	14.0097	0.64488	0.0:0.0:0.0:1.0	.	320	P78356	PI42B_HUMAN	F	320	ENSP00000269554:Y320F	ENSP00000269554:Y320F	Y	-	2	0	PIP4K2B	34180900	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	4.030000	0.57260	2.181000	0.69327	0.529000	0.55759	TAT		0.597	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		19	47	0	0	0	0	19	47				
KRT23	25984	broad.mit.edu	37	17	39086308	39086308	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr17:39086308C>G	ENST00000209718.3	-	4	944	c.520G>C	c.(520-522)Gaa>Caa	p.E174Q	KRT23_ENST00000436344.3_Missense_Mutation_p.E37Q|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	174	Coil 1B.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				CCCTCGACTTCAATTTCCAAG	0.443																																						uc002hvm.1		NA																	0				ovary(1)	1						c.(520-522)GAA>CAA		keratin 23							167.0	140.0	149.0					17																	39086308		2203	4300	6503	SO:0001583	missense	25984					intermediate filament	structural molecule activity	g.chr17:39086308C>G	AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.520G>C	17.37:g.39086308C>G	ENSP00000209718:p.Glu174Gln					KRT23_uc010wfl.1_Missense_Mutation_p.E37Q|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Missense_Mutation_p.E174Q|KRT23_uc002hvn.1_Missense_Mutation_p.E174Q	p.E174Q	NM_015515	NP_056330	Q9C075	K1C23_HUMAN			4	1109	-		Breast(137;0.000301)|Ovarian(249;0.15)	174			Rod.|Coil 1B.		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	ENST00000209718.3	37	c.520G>C	CCDS11380.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720854	0.48728	.	.	ENSG00000108244	ENST00000209718;ENST00000436344	D;D	0.89875	-2.58;-2.58	5.74	4.76	0.60689	Filament (1);	0.228520	0.30329	N	0.009865	D	0.88187	0.6369	L	0.56769	1.78	0.40827	D	0.983555	P	0.39717	0.684	B	0.40901	0.343	D	0.89338	0.3652	10	0.87932	D	0	.	15.0565	0.71917	0.0:0.9309:0.0:0.0691	.	174	Q9C075	K1C23_HUMAN	Q	174;37	ENSP00000209718:E174Q;ENSP00000414056:E37Q	ENSP00000209718:E174Q	E	-	1	0	KRT23	36339834	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	4.895000	0.63214	1.407000	0.46875	0.460000	0.39030	GAA		0.443	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1			21	95	0	0	0	0	21	95				
DUSP3	1845	broad.mit.edu	37	17	41847077	41847077	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr17:41847077A>G	ENST00000226004.3	-	3	521	c.458T>C	c.(457-459)aTc>aCc	p.I153T	DUSP3_ENST00000397937.2_Missense_Mutation_p.I112T	NM_004090.3	NP_004081.1	P51452	DUS3_HUMAN	dual specificity phosphatase 3	153	Tyrosine-protein phosphatase.				in utero embryonic development (GO:0001701)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of JNK cascade (GO:0046329)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of mitotic cell cycle (GO:0045931)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	7		Breast(137;0.00725)		BRCA - Breast invasive adenocarcinoma(366;0.116)		CTGCCTCACGATGCTCAGGGC	0.582																																					Esophageal Squamous(114;1511 1593 4801 6912 51717)	uc002ied.3		NA																	0					0						c.(457-459)ATC>ACC		dual specificity phosphatase 3							104.0	85.0	91.0					17																	41847077		2203	4300	6503	SO:0001583	missense	1845				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|immunological synapse|nucleoplasm	MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:41847077A>G	BC035701	CCDS11469.1	17q21	2011-06-09	2008-02-04			ENSG00000108861		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3069	protein-coding gene	gene with protein product		600183	"""vaccinia virus phosphatase VH1-related"""	VHR		7829094	Standard	NM_004090		Approved		uc002ied.4	P51452		ENST00000226004.3:c.458T>C	17.37:g.41847077A>G	ENSP00000226004:p.Ile153Thr					DUSP3_uc002iee.3_3'UTR|DUSP3_uc002ief.1_Missense_Mutation_p.I110T	p.I153T	NM_004090	NP_004081	P51452	DUS3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.116)	3	534	-		Breast(137;0.00725)	153			Tyrosine-protein phosphatase.		D3DX45|Q5U0J1|Q8IYJ9	Missense_Mutation	SNP	ENST00000226004.3	37	c.458T>C	CCDS11469.1	.	.	.	.	.	.	.	.	.	.	A	5.416	0.261853	0.10239	.	.	ENSG00000108861	ENST00000226004;ENST00000397937	D;D	0.86097	-2.07;-2.07	5.74	1.14	0.20703	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.311124	0.34314	N	0.004062	T	0.56124	0.1964	N	0.01631	-0.79	0.25169	N	0.990295	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.0	T	0.51872	-0.8650	10	0.02654	T	1	-7.6923	8.7264	0.34471	0.4306:0.0:0.5694:0.0	.	153;153	B5BUI8;P51452	.;DUS3_HUMAN	T	153;112	ENSP00000226004:I153T;ENSP00000443014:I112T	ENSP00000226004:I153T	I	-	2	0	DUSP3	39202603	0.011000	0.17503	0.493000	0.27502	0.989000	0.77384	2.026000	0.41069	0.125000	0.18397	0.533000	0.62120	ATC		0.582	DUSP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453503.1	NM_004090		9	53	0	0	0	0	9	53				
LRRC37A2	474170	broad.mit.edu	37	17	44626223	44626223	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr17:44626223G>C	ENST00000576629.1	+	10	4213	c.3718G>C	c.(3718-3720)Gag>Cag	p.E1240Q	ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000445552.2_Intron|LRRC37A2_ENST00000333412.3_Missense_Mutation_p.E1240Q|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000573185.1_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1240						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CTTCACCCAAGAGCATAAGGC	0.592																																						uc002ikn.1		NA																	0					0						c.(3718-3720)GAG>CAG		c114 SLIT-like testicular protein precursor							63.0	103.0	90.0					17																	44626223		2187	4298	6485	SO:0001583	missense	474170					integral to membrane		g.chr17:44626223G>C	AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.3718G>C	17.37:g.44626223G>C	ENSP00000459551:p.Glu1240Gln					ARL17A_uc002iko.3_Intron|LRRC37A2_uc002ikq.1_Missense_Mutation_p.E201Q|LRRC37A2_uc010dax.1_Missense_Mutation_p.E170Q	p.E1240Q	NM_001006607	NP_001006608	A6NM11	L37A2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.232)	9	3721	+		Melanoma(429;0.211)	1240			Extracellular (Potential).		B7ZMC3	Missense_Mutation	SNP	ENST00000576629.1	37	c.3718G>C	CCDS42353.1	.	.	.	.	.	.	.	.	.	.	g	10.44	1.350259	0.24512	.	.	ENSG00000238083	ENST00000333412	T	0.41758	0.99	2.96	2.96	0.34315	.	.	.	.	.	T	0.38825	0.1055	M	0.66939	2.045	0.31937	N	0.611452	B;B;B	0.33940	0.011;0.433;0.028	B;B;B	0.32393	0.003;0.145;0.014	T	0.49952	-0.8884	9	0.38643	T	0.18	.	9.5897	0.39539	0.0:0.0:1.0:0.0	.	1240;201;1240	C9JSP5;B3KRJ4;A6NM11	.;.;L37A2_HUMAN	Q	1240	ENSP00000333071:E1240Q	ENSP00000333071:E1240Q	E	+	1	0	LRRC37A2	41981539	0.000000	0.05858	0.025000	0.17156	0.062000	0.15995	0.097000	0.15168	1.673000	0.50895	0.175000	0.17021	GAG		0.592	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2	NM_001006607		17	223	0	0	0	0	17	223				
CEP112	201134	broad.mit.edu	37	17	63847958	63847958	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr17:63847958C>G	ENST00000392769.2	-	21	2576	c.2358G>C	c.(2356-2358)aaG>aaC	p.K786N	CEP112_ENST00000535342.2_Missense_Mutation_p.K786N|CEP112_ENST00000541355.1_Missense_Mutation_p.K421N|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000537949.1_Missense_Mutation_p.K744N	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	786					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CAGCATGAGTCTTTTTCAGCT	0.373																																						uc002jfl.2		NA																	0					0						c.(2356-2358)AAG>AAC		coiled-coil domain containing 46 isoform a							197.0	184.0	188.0					17																	63847958		2202	4300	6502	SO:0001583	missense	201134					centrosome		g.chr17:63847958C>G	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.2358G>C	17.37:g.63847958C>G	ENSP00000376522:p.Lys786Asn					CCDC46_uc010deo.2_Missense_Mutation_p.K528N|CCDC46_uc002jfm.2_Missense_Mutation_p.K786N|CCDC46_uc010dep.2_Missense_Mutation_p.K744N	p.K786N	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.53e-06)		21	2577	-			786			Potential.		Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	c.2358G>C	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527450	0.44969	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000541355;ENST00000537949	T;T;T;T	0.53857	0.62;0.62;0.6;0.63	4.94	3.97	0.46021	.	0.178997	0.47093	D	0.000254	T	0.47488	0.1448	L	0.34521	1.04	0.22001	N	0.999424	P;P;P	0.48016	0.904;0.904;0.904	P;P;P	0.49887	0.625;0.531;0.625	T	0.30822	-0.9965	10	0.36615	T	0.2	-11.083	9.3812	0.38316	0.0:0.8373:0.0:0.1627	.	744;744;786	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	N	786;786;421;744	ENSP00000442784:K786N;ENSP00000376522:K786N;ENSP00000443711:K421N;ENSP00000440775:K744N	ENSP00000376522:K786N	K	-	3	2	CEP112	61278420	0.003000	0.15002	0.898000	0.35279	0.996000	0.88848	0.621000	0.24418	1.081000	0.41110	0.555000	0.69702	AAG		0.373	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		24	150	0	0	0	0	24	150				
MRPS7	51081	broad.mit.edu	37	17	73258060	73258060	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr17:73258060C>G	ENST00000245539.6	+	1	306	c.79C>G	c.(79-81)Cca>Gca	p.P27A	GGA3_ENST00000578348.1_Intron|GGA3_ENST00000582486.1_Intron|GGA3_ENST00000582717.1_Intron|GGA3_ENST00000245541.6_5'Flank|GGA3_ENST00000537686.1_5'Flank|GGA3_ENST00000538886.1_5'Flank|MRPS7_ENST00000579761.1_Missense_Mutation_p.P27A|GGA3_ENST00000351904.7_5'Flank|GGA3_ENST00000579743.1_Intron|MRPS7_ENST00000579002.1_5'UTR	NM_015971.3	NP_057055.2	Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	27					translation (GO:0006412)	cytosolic small ribosomal subunit (GO:0022627)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CTTGCAGCTTCCAGGGTGAGA	0.721																																						uc002jnm.3		NA																	0				central_nervous_system(1)	1						c.(79-81)CCA>GCA		mitochondrial ribosomal protein S7 precursor							19.0	29.0	25.0					17																	73258060		2200	4297	6497	SO:0001583	missense	51081				translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome	g.chr17:73258060C>G	AB051348	CCDS11718.1	17q25.1	2012-09-13				ENSG00000125445		"""Mitochondrial ribosomal proteins / small subunits"""	14499	protein-coding gene	gene with protein product		611974					Standard	NM_015971		Approved	MRP-S, RP-S7, RPMS7	uc002jnm.4	Q9Y2R9		ENST00000245539.6:c.79C>G	17.37:g.73258060C>G	ENSP00000245539:p.Pro27Ala					GGA3_uc002jni.1_5'Flank|GGA3_uc002jnj.1_5'Flank|GGA3_uc010wrw.1_Intron|GGA3_uc002jnk.1_5'Flank|GGA3_uc010wrx.1_5'Flank|GGA3_uc010wry.1_Intron|GGA3_uc010wrz.1_5'Flank|MRPS7_uc002jnl.2_Missense_Mutation_p.P27A|MRPS7_uc002jnn.3_5'UTR	p.P27A	NM_015971	NP_057055	Q9Y2R9	RT07_HUMAN	all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)		1	312	+	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		27					B2R9N5|Q53GD6	Missense_Mutation	SNP	ENST00000245539.6	37	c.79C>G	CCDS11718.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018988	0.54576	.	.	ENSG00000125445	ENST00000245539	T	0.45668	0.89	5.66	5.66	0.87406	.	0.163773	0.56097	D	0.000037	T	0.41673	0.1169	L	0.53249	1.67	0.80722	D	1	P	0.35745	0.518	B	0.35182	0.197	T	0.39840	-0.9594	10	0.62326	D	0.03	-11.0108	15.2463	0.73509	0.0:1.0:0.0:0.0	.	27	Q9Y2R9	RT07_HUMAN	A	27	ENSP00000245539:P27A	ENSP00000245539:P27A	P	+	1	0	MRPS7	70769655	0.638000	0.27225	0.985000	0.45067	0.496000	0.33645	2.150000	0.42254	2.676000	0.91093	0.609000	0.83330	CCA		0.721	MRPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446666.1	NM_015971		10	61	0	0	0	0	10	61				
DTNA	1837	broad.mit.edu	37	18	32457760	32457760	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr18:32457760G>C	ENST00000399113.3	+	18	1900	c.1900G>C	c.(1900-1902)Gag>Cag	p.E634Q	DTNA_ENST00000591182.1_Missense_Mutation_p.E282Q|DTNA_ENST00000601125.1_Missense_Mutation_p.E256Q|DTNA_ENST00000283365.9_Missense_Mutation_p.E577Q|DTNA_ENST00000590831.2_Missense_Mutation_p.E60Q|DTNA_ENST00000598142.1_Missense_Mutation_p.E577Q|DTNA_ENST00000269192.7_Missense_Mutation_p.E343Q|DTNA_ENST00000598334.1_Missense_Mutation_p.E574Q|DTNA_ENST00000444659.1_Missense_Mutation_p.E634Q|DTNA_ENST00000399097.3_Missense_Mutation_p.E282Q|DTNA_ENST00000269190.7_Missense_Mutation_p.E635Q|DTNA_ENST00000556414.3_Missense_Mutation_p.E286Q|DTNA_ENST00000399121.5_Missense_Mutation_p.E581Q|DTNA_ENST00000595022.1_Missense_Mutation_p.E574Q			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	634					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TCTTGTGAAAGAGCTGAATTC	0.423																																						uc010dmn.1		NA																	0					0						c.(1900-1902)GAG>CAG		dystrobrevin alpha isoform 1							124.0	107.0	113.0					18																	32457760		2203	4300	6503	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32457760G>C	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1900G>C	18.37:g.32457760G>C	ENSP00000382064:p.Glu634Gln					DTNA_uc002kxw.2_Missense_Mutation_p.E577Q|DTNA_uc010dmj.2_Missense_Mutation_p.E574Q|DTNA_uc002kxz.2_Missense_Mutation_p.E581Q|DTNA_uc002kxy.2_Missense_Mutation_p.E574Q|DTNA_uc010xby.1_Missense_Mutation_p.E324Q|DTNA_uc010xbz.1_Missense_Mutation_p.E343Q|DTNA_uc010xca.1_Missense_Mutation_p.E286Q|DTNA_uc002kye.2_Missense_Mutation_p.E282Q	p.E634Q	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN			18	1901	+			634					A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.1900G>C	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703530	0.88924	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000399121;ENST00000444659;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	T;T;T;T	0.26223	1.76;1.75;1.8;1.8	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.53433	0.1796	M	0.76170	2.325	0.58432	D	0.999996	D;D;D;D;D;D;D;D;D	0.69078	0.98;0.994;0.994;0.997;0.985;0.997;0.995;0.974;0.966	P;D;D;D;D;D;P;P;P	0.79784	0.791;0.966;0.977;0.993;0.919;0.993;0.831;0.831;0.801	T	0.52434	-0.8576	10	0.49607	T	0.09	-18.9375	19.3164	0.94215	0.0:0.0:1.0:0.0	.	286;343;324;634;577;282;581;585;577	B4DIU8;B4DIR0;B7Z3X3;Q9Y4J8;F5H5C1;Q9Y4J8-6;E9PEH8;Q59GK7;Q9Y4J8-2	.;.;.;DTNA_HUMAN;.;.;.;.;.	Q	577;577;581;635;282;634;634;634;343;282;286	ENSP00000283365:E577Q;ENSP00000269190:E635Q;ENSP00000405819:E634Q;ENSP00000382064:E634Q	ENSP00000269190:E635Q	E	+	1	0	DTNA	30711758	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.380000	0.97202	2.652000	0.90054	0.561000	0.74099	GAG		0.423	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		6	27	0	0	0	0	6	27				
LIPG	9388	broad.mit.edu	37	18	47107900	47107900	+	Silent	SNP	C	C	T	rs34325187|rs75308718		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr18:47107900C>T	ENST00000261292.4	+	6	1187	c.909C>T	c.(907-909)ttC>ttT	p.F303F	LIPG_ENST00000580036.1_Silent_p.F303F|LIPG_ENST00000427224.2_Silent_p.F229F|LIPG_ENST00000577628.1_Silent_p.F339F	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	303					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CCAATCGCTTCAAAAAGGGGA	0.468																																					Pancreas(126;280 1778 12814 26243 34948)	uc002ldv.2		NA																	0				ovary(1)|skin(1)	2						c.(907-909)TTC>TTT		endothelial lipase precursor							108.0	108.0	108.0					18																	47107900		2203	4300	6503	SO:0001819	synonymous_variant	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47107900C>T	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.909C>T	18.37:g.47107900C>T						LIPG_uc002ldu.1_Silent_p.F303F|LIPG_uc010xdh.1_Silent_p.F229F	p.F303F	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN			6	1161	+			303					B0LPG6|Q6P9C8|Q6UW82	Silent	SNP	ENST00000261292.4	37	c.909C>T	CCDS11938.1																																																																																				0.468	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		17	116	0	0	0	0	17	116				
WDR7	23335	broad.mit.edu	37	18	54358527	54358527	+	Silent	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr18:54358527C>G	ENST00000254442.3	+	8	1009	c.798C>G	c.(796-798)gtC>gtG	p.V266V	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.V266V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	266					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GGGACTTTGTCTCATCAGATA	0.418																																						uc002lgk.1		NA																	0				ovary(2)|skin(1)	3						c.(796-798)GTC>GTG		rabconnectin-3 beta isoform 1							88.0	95.0	93.0					18																	54358527		2203	4300	6503	SO:0001819	synonymous_variant	23335							g.chr18:54358527C>G	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.798C>G	18.37:g.54358527C>G						WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Silent_p.V266V	p.V266V	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	8	1009	+			266					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	ENST00000254442.3	37	c.798C>G	CCDS11962.1																																																																																				0.418	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			35	58	0	0	0	0	35	58				
NFIC	4782	broad.mit.edu	37	19	3452481	3452481	+	Splice_Site	SNP	G	G	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:3452481G>T	ENST00000443272.2	+	8	1137	c.1086G>T	c.(1084-1086)ggG>ggT	p.G362G	NFIC_ENST00000589123.1_Splice_Site_p.G353G|NFIC_ENST00000346156.5_Splice_Site_p.G329G|NFIC_ENST00000590282.1_Splice_Site_p.G362G|NFIC_ENST00000341919.3_Splice_Site_p.G362G|NFIC_ENST00000586919.1_Splice_Site_p.G329G|NFIC_ENST00000395111.3_Splice_Site_p.G353G	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	362					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		TCTCCGCAGGGATCGCCCGGA	0.647																																						uc010xhi.1		NA																	0					0						c.(1084-1086)GGG>GGT		nuclear factor I/C isoform 2							157.0	156.0	156.0					19																	3452481		2203	4300	6503	SO:0001630	splice_region_variant	4782				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3452481G>T	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.1085-1G>T	19.37:g.3452481G>T						NFIC_uc002lxo.2_Silent_p.G353G|NFIC_uc010xhh.1_Silent_p.G353G|NFIC_uc002lxp.2_Silent_p.G362G|NFIC_uc010xhj.1_Silent_p.G362G	p.G362G	NM_205843	NP_995315	P08651	NFIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)	8	1148	+		Hepatocellular(1079;0.137)	362					A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Silent	SNP	ENST00000443272.2	37	c.1086G>T	CCDS59330.1																																																																																				0.647	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597	Silent	52	181	1	0	1.46e-29	2.85e-29	52	181				
GIPC3	126326	broad.mit.edu	37	19	3586841	3586841	+	Silent	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:3586841G>A	ENST00000322315.5	+	3	486	c.441G>A	c.(439-441)cgG>cgA	p.R147R		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	147	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.									breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATCAACCGGATCGAGGCAG	0.622											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002lyd.3		NA																	0				breast(1)	1						c.(439-441)CGG>CGA		GIPC PDZ domain containing family, member 3							51.0	49.0	50.0					19																	3586841		2202	4300	6502	SO:0001819	synonymous_variant	126326							g.chr19:3586841G>A	AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"""chromosome 19 open reading frame 64"", ""deafness, autosomal recessive 72"", ""deafness, autosomal recessive 15"""	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.441G>A	19.37:g.3586841G>A			OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	612		p.R147R	NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	3	468	+			147			PDZ.		O75227	Silent	SNP	ENST00000322315.5	37	c.441G>A	CCDS32871.1																																																																																				0.622	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261		6	15	0	0	0	0	6	15				
SEMA6B	10501	broad.mit.edu	37	19	4552583	4552583	+	Silent	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:4552583C>T	ENST00000586582.1	-	10	1150	c.840G>A	c.(838-840)aaG>aaA	p.K280K	SEMA6B_ENST00000301293.3_Silent_p.K280K|SEMA6B_ENST00000586965.1_Silent_p.K280K	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	280	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)		ACGTCCACTGCTTCTCCAGCA	0.657																																						uc010duc.1		NA																	0				skin(1)	1						c.(838-840)AAG>AAA		semaphorin 6B precursor							35.0	30.0	32.0					19																	4552583		2203	4295	6498	SO:0001819	synonymous_variant	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4552583C>T	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.840G>A	19.37:g.4552583C>T						SEMA6B_uc010dud.2_Silent_p.K280K|SEMA6B_uc010xih.1_Silent_p.K280K	p.K280K	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)	9	878	-		Hepatocellular(1079;0.137)	280			Extracellular (Potential).|Sema.		A5PKU4|F6IB19|Q9NRK9	Silent	SNP	ENST00000586582.1	37	c.840G>A	CCDS12131.1																																																																																				0.657	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		10	12	0	0	0	0	10	12				
LRRC8E	80131	broad.mit.edu	37	19	7964812	7964812	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:7964812C>T	ENST00000306708.6	+	3	1506	c.1405C>T	c.(1405-1407)Cac>Tac	p.H469Y	RN7SL115P_ENST00000392196.5_RNA|AC010336.1_ENST00000539278.1_Nonsense_Mutation_p.W152*	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	469					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CAGCTTGCTCCACTCGCCCGC	0.632																																						uc002mir.2		NA																	0				lung(1)|pancreas(1)	2						c.(1405-1407)CAC>TAC		leucine rich repeat containing 8 family, member							40.0	28.0	32.0					19																	7964812		2202	4298	6500	SO:0001583	missense	80131					integral to membrane		g.chr19:7964812C>T		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.1405C>T	19.37:g.7964812C>T	ENSP00000306524:p.His469Tyr						p.H469Y	NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN			3	1506	+			469					B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	ENST00000306708.6	37	c.1405C>T	CCDS12189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	56|56	25.160695|25.160695	0.99964|0.99964	.|.	.|.	ENSG00000171017|ENSG00000214248	ENST00000306708|ENST00000539278	T|.	0.18960|.	2.18|.	4.64|4.64	4.64|4.64	0.57946|0.57946	.|.	0.116479|.	0.64402|.	D|.	0.000016|.	T|.	0.52240|.	0.1722|.	L|L	0.31664|0.31664	0.95|0.95	0.44547|0.44547	D|D	0.9975|0.9975	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|.	0.49725|.	-0.8909|.	10|.	0.54805|0.37606	T|T	0.06|0.19	.|.	10.1438|10.1438	0.42751|0.42751	0.1991:0.8009:0.0:0.0|0.1991:0.8009:0.0:0.0	.|.	469|.	Q6NSJ5|.	LRC8E_HUMAN|.	Y|X	469|152	ENSP00000306524:H469Y|.	ENSP00000306524:H469Y|ENSP00000441047:W152X	H|W	+|-	1|2	0|0	LRRC8E|AC010336.2	7870812|7870812	0.978000|0.978000	0.34361|0.34361	0.972000|0.972000	0.41901|0.41901	0.449000|0.449000	0.32228|0.32228	2.325000|2.325000	0.43840|0.43840	2.421000|2.421000	0.82119|0.82119	0.555000|0.555000	0.69702|0.69702	CAC|TGG		0.632	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		9	22	0	0	0	0	9	22				
UNC13A	23025	broad.mit.edu	37	19	17737530	17737530	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:17737530T>C	ENST00000519716.2	-	34	3984	c.3985A>G	c.(3985-3987)Aca>Gca	p.T1329A	UNC13A_ENST00000551649.1_Missense_Mutation_p.T1329A|UNC13A_ENST00000252773.7_Missense_Mutation_p.T1329A|UNC13A_ENST00000428389.2_Missense_Mutation_p.T1417A|UNC13A_ENST00000550896.1_Missense_Mutation_p.T1327A|UNC13A_ENST00000552293.1_Missense_Mutation_p.T1329A	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1329					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						ACATTGCCTGTGCCCTTAACC	0.592																																						uc002nhd.2		NA																	0				ovary(3)	3						c.(4249-4251)ACA>GCA		unc-13 homolog A							37.0	37.0	37.0					19																	17737530		2164	4262	6426	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17737530T>C	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.3985A>G	19.37:g.17737530T>C	ENSP00000429562:p.Thr1329Ala						p.T1417A	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			34	4249	-			1329					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.4249A>G	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	t	6.052	0.377944	0.11466	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.12879	2.64;2.64;2.64;2.64;2.64;2.64	3.59	3.59	0.41128	.	0.192827	0.30320	U	0.009884	T	0.07908	0.0198	N	0.25144	0.715	0.31007	N	0.719692	B	0.12630	0.006	B	0.12837	0.008	T	0.22487	-1.0215	10	0.07813	T	0.8	.	10.2137	0.43156	0.0:0.0:0.0:1.0	.	1329	Q9UPW8	UN13A_HUMAN	A	1329;1417;1329;1329;1329;1327	ENSP00000429562:T1329A;ENSP00000400409:T1417A;ENSP00000252773:T1329A;ENSP00000447236:T1329A;ENSP00000447572:T1329A;ENSP00000446831:T1327A	ENSP00000252773:T1329A	T	-	1	0	UNC13A	17598530	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.698000	0.54771	1.290000	0.44636	0.228000	0.17796	ACA		0.592	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		8	12	0	0	0	0	8	12				
KLHL26	55295	broad.mit.edu	37	19	18778789	18778789	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:18778789G>C	ENST00000300976.4	+	3	672	c.582G>C	c.(580-582)caG>caC	p.Q194H	KLHL26_ENST00000599006.1_Intron|KLHL26_ENST00000596843.1_3'UTR	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	194	BACK.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						ACTTCCTGCAGATCGCCGAGG	0.637																																						uc002njz.1		NA																	0				ovary(1)	1						c.(580-582)CAG>CAC		kelch-like 26							58.0	52.0	54.0					19																	18778789		2203	4300	6503	SO:0001583	missense	55295							g.chr19:18778789G>C		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.582G>C	19.37:g.18778789G>C	ENSP00000300976:p.Gln194His						p.Q194H	NM_018316	NP_060786	Q53HC5	KLH26_HUMAN			3	609	+			194			BACK.		Q8TAP0|Q9NUX3	Missense_Mutation	SNP	ENST00000300976.4	37	c.582G>C	CCDS12384.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322412	0.60634	.	.	ENSG00000167487	ENST00000300976	T	0.69561	-0.41	5.04	5.04	0.67666	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.76300	0.3968	M	0.69823	2.125	0.80722	D	1	P	0.49358	0.923	P	0.53450	0.726	T	0.76921	-0.2780	9	.	.	.	.	17.3648	0.87360	0.0:0.0:1.0:0.0	.	194	Q53HC5	KLH26_HUMAN	H	194	ENSP00000300976:Q194H	.	Q	+	3	2	KLHL26	18639789	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	6.488000	0.73637	2.341000	0.79615	0.591000	0.81541	CAG		0.637	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		9	50	0	0	0	0	9	50				
ZNF101	94039	broad.mit.edu	37	19	19790800	19790800	+	Silent	SNP	A	A	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:19790800A>T	ENST00000592502.1	+	4	1112	c.1002A>T	c.(1000-1002)ggA>ggT	p.G334G	ZNF101_ENST00000415784.2_Silent_p.G214G|ZNF101_ENST00000444249.2_3'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	334					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						CTCACACTGGAGAAAGACCTT	0.368																																						uc002nni.1		NA																	0				ovary(2)	2						c.(1000-1002)GGA>GGT		zinc finger protein 101							56.0	56.0	56.0					19																	19790800		2203	4300	6503	SO:0001819	synonymous_variant	94039				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19790800A>T	AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"""Zinc fingers, C2H2-type"", ""-"""	12881	protein-coding gene	gene with protein product		603983	"""zinc finger protein 101 (Y2)"""			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.1002A>T	19.37:g.19790800A>T						ZNF101_uc010ecg.1_Silent_p.G214G|ZNF101_uc002nnj.1_Silent_p.G214G	p.G334G	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN			4	1112	+			334					C9JU83|Q0VDG9	Silent	SNP	ENST00000592502.1	37	c.1002A>T	CCDS32971.1																																																																																				0.368	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		6	31	0	0	0	0	6	31				
ZNF430	80264	broad.mit.edu	37	19	21239886	21239886	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:21239886G>C	ENST00000261560.5	+	5	953	c.772G>C	c.(772-774)Gag>Cag	p.E258Q	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	258					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TCATACTGGAGAGAAACCCTA	0.368																																						uc002npj.2		NA																	0				skin(2)	2						c.(772-774)GAG>CAG		zinc finger protein 430							52.0	58.0	56.0					19																	21239886		2202	4300	6502	SO:0001583	missense	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21239886G>C	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.772G>C	19.37:g.21239886G>C	ENSP00000261560:p.Glu258Gln					ZNF430_uc002npk.2_Missense_Mutation_p.E257Q	p.E258Q	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN			5	882	+			258					Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	c.772G>C	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	15.57	2.873271	0.51695	.	.	ENSG00000118620	ENST00000261560	T	0.25912	1.77	1.04	1.04	0.20106	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44932	0.1317	M	0.72624	2.21	0.34215	D	0.674752	D;P	0.71674	0.998;0.508	D;P	0.79784	0.993;0.453	T	0.56992	-0.7887	9	0.66056	D	0.02	.	8.892	0.35439	0.0:0.0:1.0:0.0	.	257;258	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	Q	258	ENSP00000261560:E258Q	ENSP00000261560:E258Q	E	+	1	0	ZNF430	21031726	0.999000	0.42202	0.673000	0.29887	0.653000	0.38743	2.272000	0.43373	0.452000	0.26830	0.455000	0.32223	GAG		0.368	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		5	50	0	0	0	0	5	50				
FCGBP	8857	broad.mit.edu	37	19	40408042	40408042	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:40408042T>A	ENST00000221347.6	-	9	4686	c.4679A>T	c.(4678-4680)gAt>gTt	p.D1560V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1560	Cys-rich.|TIL 3.					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)			AGCACACCCATCCTGGCACTG	0.617																																						uc002omp.3		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(4678-4680)GAT>GTT		Fc fragment of IgG binding protein precursor							83.0	70.0	75.0					19																	40408042		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40408042T>A	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.4679A>T	19.37:g.40408042T>A	ENSP00000221347:p.Asp1560Val						p.D1560V	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		9	4687	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		1560			TIL 3.|Cys-rich.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.4679A>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	T	0.995	-0.692891	0.03303	.	.	ENSG00000090920	ENST00000221347	D	0.90900	-2.75	3.64	2.53	0.30540	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	.	.	.	.	D	0.83727	0.5317	L	0.41415	1.275	0.09310	N	1	B	0.18166	0.026	B	0.17098	0.017	T	0.70230	-0.4929	9	0.29301	T	0.29	.	5.4588	0.16606	0.0:0.2462:0.0:0.7538	.	1560	Q9Y6R7	FCGBP_HUMAN	V	1560	ENSP00000221347:D1560V	ENSP00000221347:D1560V	D	-	2	0	FCGBP	45099882	0.000000	0.05858	0.012000	0.15200	0.002000	0.02628	0.386000	0.20702	1.519000	0.48950	0.402000	0.26972	GAT		0.617	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		12	40	0	0	0	0	12	40				
HIF3A	64344	broad.mit.edu	37	19	46808523	46808523	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:46808523C>G	ENST00000377670.4	+	3	270	c.239C>G	c.(238-240)gCa>gGa	p.A80G	HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000300862.3_Missense_Mutation_p.A78G|HIF3A_ENST00000339613.2_Missense_Mutation_p.A24G|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000600383.1_Intron|HIF3A_ENST00000244303.6_Intron|RNU6-924P_ENST00000362926.1_RNA|HIF3A_ENST00000420102.2_Intron	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	80					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CAGGTGGGAGCAGGGGGAGAA	0.617																																						uc002peh.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(238-240)GCA>GGA		hypoxia inducible factor 3, alpha subunit							86.0	79.0	81.0					19																	46808523		2203	4300	6503	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46808523C>G	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.239C>G	19.37:g.46808523C>G	ENSP00000366898:p.Ala80Gly					HIF3A_uc002pef.1_Missense_Mutation_p.A80G|HIF3A_uc002peg.3_Missense_Mutation_p.A80G|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Missense_Mutation_p.A24G|HIF3A_uc002pej.1_Intron|HIF3A_uc002pek.2_Missense_Mutation_p.A24G|HIF3A_uc010xxy.1_Intron|HIF3A_uc002pel.2_Missense_Mutation_p.A78G|HIF3A_uc010xxz.1_Intron	p.A80G	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	3	268	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	80					B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.239C>G	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	C	10.45	1.353648	0.24512	.	.	ENSG00000124440	ENST00000475432;ENST00000244302;ENST00000377670;ENST00000414707;ENST00000339613;ENST00000533145;ENST00000291300;ENST00000300862	T;T;T	0.56941	0.54;0.43;0.54	4.26	2.05	0.26809	Helix-loop-helix DNA-binding (1);	0.714152	0.11574	N	0.550462	T	0.25494	0.0620	N	0.01874	-0.695	0.09310	N	1	B;B;B;B;B	0.25772	0.002;0.094;0.001;0.039;0.134	B;B;B;B;B	0.28709	0.005;0.037;0.002;0.025;0.093	T	0.22138	-1.0225	10	0.51188	T	0.08	.	6.5821	0.22600	0.1852:0.7159:0.0:0.0988	.	78;24;80;80;80	Q9Y2N7-2;A8MPQ1;Q9Y2N7;B0M185;E7EWV6	.;.;HIF3A_HUMAN;.;.	G	80;80;80;80;24;72;24;78	ENSP00000366898:A80G;ENSP00000341877:A24G;ENSP00000300862:A78G	ENSP00000244302:A80G	A	+	2	0	HIF3A	51500363	0.043000	0.20138	0.121000	0.21740	0.862000	0.49288	0.790000	0.26900	0.501000	0.28013	0.462000	0.41574	GCA		0.617	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			18	81	0	0	0	0	18	81				
LENG8	114823	broad.mit.edu	37	19	54968931	54968931	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:54968931G>C	ENST00000326764.5	+	12	2216	c.1737G>C	c.(1735-1737)ttG>ttC	p.L579F	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	542										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TTCAGGTTTTGAAAAAGTCGC	0.493																																						uc002qfv.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1624-1626)TTG>TTC		RecName: Full=Leukocyte receptor cluster member 8;							108.0	105.0	106.0					19																	54968931		2203	4300	6503	SO:0001583	missense	114823						protein binding	g.chr19:54968931G>C	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1737G>C	19.37:g.54968931G>C	ENSP00000318374:p.Leu579Phe					LENG8_uc002qfw.2_Missense_Mutation_p.L579F	p.L542F			Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	11	1770	+	Ovarian(34;0.19)		542					B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	c.1626G>C	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.982750	0.53827	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	T;T;T	0.48522	0.81;0.81;0.81	4.26	2.09	0.27110	.	0.000000	0.64402	D	0.000011	T	0.73659	0.3615	H	0.95679	3.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.76165	-0.3059	10	0.87932	D	0	-17.5196	8.8671	0.35294	0.1937:0.0:0.8063:0.0	.	579;542	Q96PV6-2;F8W9Q9	.;.	F	579;542;542;579	ENSP00000318374:L579F;ENSP00000365709:L542F;ENSP00000388053:L579F	ENSP00000301196:L542F	L	+	3	2	LENG8	59660743	1.000000	0.71417	0.952000	0.39060	0.659000	0.38960	3.558000	0.53749	0.518000	0.28383	-0.291000	0.09656	TTG		0.493	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		11	87	0	0	0	0	11	87				
ZNF264	9422	broad.mit.edu	37	19	57705330	57705330	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:57705330G>C	ENST00000263095.6	+	2	535	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	ZNF264_ENST00000536056.1_Missense_Mutation_p.E41Q|ZNF264_ENST00000600531.1_Missense_Mutation_p.E41Q|ZNF264_ENST00000599653.1_Missense_Mutation_p.E41Q	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	41	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CCTGTACCAGGAGGTGATGCT	0.557																																						uc002qob.2		NA																	0				ovary(2)	2						c.(121-123)GAG>CAG		zinc finger protein 264							134.0	135.0	135.0					19																	57705330		2203	4300	6503	SO:0001583	missense	9422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57705330G>C	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.121G>C	19.37:g.57705330G>C	ENSP00000263095:p.Glu41Gln						p.E41Q	NM_003417	NP_003408	O43296	ZN264_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	2	534	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	41			KRAB.		A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	37	c.121G>C	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333409	0.60853	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.01998	4.51;4.51	2.56	1.51	0.23008	Krueppel-associated box (4);	.	.	.	.	T	0.08492	0.0211	M	0.84683	2.71	0.24869	N	0.99229	P	0.49447	0.924	P	0.52672	0.706	T	0.07009	-1.0795	9	0.72032	D	0.01	.	8.7197	0.34434	0.1253:0.0:0.8747:0.0	.	41	O43296	ZN264_HUMAN	Q	41	ENSP00000263095:E41Q;ENSP00000440376:E41Q	ENSP00000263095:E41Q	E	+	1	0	ZNF264	62397142	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	2.776000	0.47709	0.629000	0.30376	0.491000	0.48974	GAG		0.557	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			23	107	0	0	0	0	23	107				
ZNF418	147686	broad.mit.edu	37	19	58438232	58438232	+	Silent	SNP	G	G	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:58438232G>T	ENST00000396147.1	-	4	1608	c.1317C>A	c.(1315-1317)ggC>ggA	p.G439G	ZNF418_ENST00000599852.1_Silent_p.G354G|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000425570.3_Silent_p.G460G|ZNF418_ENST00000595830.1_Silent_p.G439G	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	439					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GAATGAGGTTGCCCTTTCGAC	0.473																																						uc002qqs.1		NA																	0					0						c.(1315-1317)GGC>GGA		zinc finger protein 418							137.0	141.0	140.0					19																	58438232		2203	4300	6503	SO:0001819	synonymous_variant	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58438232G>T	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1317C>A	19.37:g.58438232G>T						ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Silent_p.G354G	p.G439G	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	4	1609	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	439			C2H2-type 9.		Q2M1S2|Q670L5|Q96N18	Silent	SNP	ENST00000396147.1	37	c.1317C>A	CCDS42642.1																																																																																				0.473	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		41	149	1	0	1.59e-14	3.04e-14	41	149				
C2orf16	84226	broad.mit.edu	37	2	27803074	27803074	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:27803074C>T	ENST00000408964.2	+	1	3686	c.3635C>T	c.(3634-3636)aCt>aTt	p.T1212I	ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000379717.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000416005.2_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000413371.2_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1212						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AAGAGTCCTACTTCCACAATA	0.468																																						uc002rkz.3		NA																	0				large_intestine(1)	1						c.(3634-3636)ACT>ATT		hypothetical protein LOC84226							109.0	108.0	108.0					2																	27803074		1901	4118	6019	SO:0001583	missense	84226							g.chr2:27803074C>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3635C>T	2.37:g.27803074C>T	ENSP00000386190:p.Thr1212Ile					ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	p.T1212I	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	3686	+	Acute lymphoblastic leukemia(172;0.155)		1212					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.3635C>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	8.952	0.968520	0.18659	.	.	ENSG00000221843	ENST00000408964	T	0.06449	3.3	5.19	4.29	0.51040	.	.	.	.	.	T	0.06462	0.0166	N	0.24115	0.695	0.09310	N	0.999999	P	0.39250	0.665	B	0.40228	0.323	T	0.29366	-1.0014	9	0.59425	D	0.04	.	11.5792	0.50881	0.0:0.8196:0.1804:0.0	.	1212	Q68DN1	CB016_HUMAN	I	1212	ENSP00000386190:T1212I	ENSP00000386190:T1212I	T	+	2	0	C2orf16	27656578	0.000000	0.05858	0.620000	0.29132	0.116000	0.19942	-0.236000	0.09003	1.128000	0.42052	0.467000	0.42956	ACT		0.468	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		20	107	0	0	0	0	20	107				
LRPPRC	10128	broad.mit.edu	37	2	44209427	44209427	+	Missense_Mutation	SNP	C	C	T	rs201021305		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:44209427C>T	ENST00000260665.7	-	2	353	c.296G>A	c.(295-297)cGc>cAc	p.R99H	LRPPRC_ENST00000409946.1_Missense_Mutation_p.R99H|LRPPRC_ENST00000409659.1_Missense_Mutation_p.R99H	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	99					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTTTGGAATGCGGCCAGTTCT	0.383													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16568	0.0		0.0	False		,,,				2504	0.0					uc002rtr.2		NA																	0				ovary(2)|skin(1)	3						c.(295-297)CGC>CAC		leucine-rich PPR motif-containing protein							59.0	64.0	62.0					2																	44209427		2203	4300	6503	SO:0001583	missense	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44209427C>T	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.296G>A	2.37:g.44209427C>T	ENSP00000260665:p.Arg99His					LRPPRC_uc010yob.1_Intron|LRPPRC_uc010faw.1_Missense_Mutation_p.R73H	p.R99H	NM_133259	NP_573566	P42704	LPPRC_HUMAN			2	354	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	99					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.296G>A	CCDS33189.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	35	5.517994	0.96416	.	.	ENSG00000138095	ENST00000260665;ENST00000409946;ENST00000409659;ENST00000447246	T;T;T;T	0.69926	0.06;-0.0;0.01;-0.44	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.82706	0.5095	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.953	T	0.79871	-0.1620	10	0.34782	T	0.22	-21.1992	20.1057	0.97893	0.0:1.0:0.0:0.0	.	73;99	C9JCA9;P42704	.;LPPRC_HUMAN	H	99;99;99;73	ENSP00000260665:R99H;ENSP00000386234:R99H;ENSP00000386562:R99H;ENSP00000403637:R73H	ENSP00000260665:R99H	R	-	2	0	LRPPRC	44062931	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.559000	0.60796	2.827000	0.97445	0.650000	0.86243	CGC		0.383	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		9	44	0	0	0	0	9	44				
XPO1	7514	broad.mit.edu	37	2	61711150	61711150	+	Missense_Mutation	SNP	G	G	A	rs190205938		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:61711150G>A	ENST00000401558.2	-	21	3326	c.2599C>T	c.(2599-2601)Cca>Tca	p.P867S	RP11-355B11.2_ENST00000605437.1_RNA|RP11-355B11.2_ENST00000578974.2_RNA|XPO1_ENST00000406957.1_Missense_Mutation_p.P867S|XPO1_ENST00000404992.2_Missense_Mutation_p.P867S|RP11-355B11.2_ENST00000603028.1_RNA|RP11-355B11.2_ENST00000603652.1_RNA	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	867					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TGTGTAGGTGGAATAGCAAGG	0.348			Mis		CLL								G|||	1	0.000199681	0.0	0.0	5008	,	,		21291	0.001		0.0	False		,,,				2504	0.0					uc002sbj.2		NA	-'	Dom	yes		2	2p15	7514		"""exportin 1 (CRM1 homolog, yeast)"""			L					0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4						c.(2599-2601)CCA>TCA		exportin 1							118.0	119.0	119.0					2																	61711150		2203	4300	6503	SO:0001583	missense	7514				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	g.chr2:61711150G>A	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.2599C>T	2.37:g.61711150G>A	ENSP00000384863:p.Pro867Ser					XPO1_uc010fcl.2_Missense_Mutation_p.P863S|XPO1_uc010ypn.1_Missense_Mutation_p.P863S|XPO1_uc002sbk.2_Missense_Mutation_p.P428S|XPO1_uc002sbg.2_Missense_Mutation_p.P64S|XPO1_uc002sbh.2_Missense_Mutation_p.P514S	p.P867S	NM_003400	NP_003391	O14980	XPO1_HUMAN	LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)		21	3327	-			867					A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	c.2599C>T	CCDS33205.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.72	2.320755	0.41096	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	.	.	.	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (2);Exportin 1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60117	0.2244	L	0.56396	1.775	0.80722	D	1	B;B	0.27594	0.066;0.182	B;B	0.25884	0.053;0.064	T	0.55661	-0.8106	9	0.16896	T	0.51	-11.4537	20.0358	0.97557	0.0:0.0:1.0:0.0	.	514;867	B3KWD0;O14980	.;XPO1_HUMAN	S	867	.	ENSP00000384863:P867S	P	-	1	0	XPO1	61564654	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.349000	0.73013	2.805000	0.96524	0.655000	0.94253	CCA		0.348	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		13	71	0	0	0	0	13	71				
ITPRIPL1	150771	broad.mit.edu	37	2	96993068	96993068	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:96993068G>C	ENST00000439118.2	+	3	950	c.699G>C	c.(697-699)caG>caC	p.Q233H	ITPRIPL1_ENST00000361124.4_Missense_Mutation_p.Q241H|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.Q225H|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.Q225H	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	233						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATGAGACCCAGAAATTTGATA	0.612																																						uc002svx.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(697-699)CAG>CAC		inositol 1,4,5-triphosphate receptor interacting							37.0	41.0	40.0					2																	96993068		2203	4300	6503	SO:0001583	missense	150771					integral to membrane		g.chr2:96993068G>C		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.699G>C	2.37:g.96993068G>C	ENSP00000389308:p.Gln233His					ITPRIPL1_uc010yuk.1_Missense_Mutation_p.Q225H|ITPRIPL1_uc002svy.2_Missense_Mutation_p.Q241H|ITPRIPL1_uc010yul.1_Missense_Mutation_p.Q225H	p.Q233H	NM_001008949	NP_001008949	Q6GPH6	IPIL1_HUMAN			3	1034	+			233			Cytoplasmic (Potential).		F5H1L8|Q8NE61	Missense_Mutation	SNP	ENST00000439118.2	37	c.699G>C	CCDS46360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.03|10.03	1.239863|1.239863	0.22711|0.22711	.|.	.|.	ENSG00000198885|ENSG00000198885	ENST00000536814;ENST00000439118;ENST00000361124;ENST00000542887|ENST00000420728	T;T;T;T|.	0.18174|.	2.24;2.24;2.23;2.24|.	5.24|5.24	1.11|1.11	0.20524|0.20524	.|.	0.584934|.	0.14990|.	N|.	0.286749|.	T|T	0.21145|0.21145	0.0509|0.0509	N|N	0.14661|0.14661	0.345|0.345	0.27751|0.27751	N|N	0.944154|0.944154	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.06405|.	0.002;0.0|.	T|T	0.27938|0.27938	-1.0059|-1.0059	10|5	0.22706|.	T|.	0.39|.	-5.6551|-5.6551	8.3868|8.3868	0.32505|0.32505	0.0:0.4331:0.2966:0.2703|0.0:0.4331:0.2966:0.2703	.|.	241;233|.	Q6GPH6-2;Q6GPH6|.	.;IPIL1_HUMAN|.	H|T	225;233;241;225|265	ENSP00000439566:Q225H;ENSP00000389308:Q233H;ENSP00000355121:Q241H;ENSP00000438212:Q225H|.	ENSP00000355121:Q241H|.	Q|R	+|+	3|2	2|0	ITPRIPL1|ITPRIPL1	96356795|96356795	0.000000|0.000000	0.05858|0.05858	0.996000|0.996000	0.52242|0.52242	0.994000|0.994000	0.84299|0.84299	-0.581000|-0.581000	0.05820|0.05820	0.322000|0.322000	0.23283|0.23283	0.655000|0.655000	0.94253|0.94253	CAG|AGA		0.612	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		18	48	0	0	0	0	18	48				
FOXD4L1	200350	broad.mit.edu	37	2	114257054	114257054	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:114257054T>A	ENST00000306507.5	+	1	394	c.221T>A	c.(220-222)aTc>aAc	p.I74N		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	74					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CGAGAGCACATCGAGGGCGGC	0.701																																						uc002tjw.3		NA																	0					0						c.(220-222)ATC>AAC		forkhead box D4-like 1							46.0	66.0	59.0					2																	114257054		2152	4184	6336	SO:0001583	missense	200350				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:114257054T>A	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.221T>A	2.37:g.114257054T>A	ENSP00000302756:p.Ile74Asn						p.I74N	NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN			1	394	+			74					B3KWN1|B9EGF3	Missense_Mutation	SNP	ENST00000306507.5	37	c.221T>A	CCDS2117.1	.	.	.	.	.	.	.	.	.	.	.	9.745	1.165980	0.21538	.	.	ENSG00000184492	ENST00000306507	D	0.94138	-3.36	2.67	0.471	0.16752	.	.	.	.	.	D	0.83170	0.5196	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.67872	-0.5558	9	0.16896	T	0.51	.	2.8542	0.05566	0.0:0.4392:0.2449:0.3159	.	74	Q9NU39	FX4L1_HUMAN	N	74	ENSP00000302756:I74N	ENSP00000302756:I74N	I	+	2	0	FOXD4L1	113973524	0.000000	0.05858	0.011000	0.14972	0.194000	0.23727	-0.202000	0.09451	0.439000	0.26476	0.155000	0.16302	ATC		0.701	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		19	41	0	0	0	0	19	41				
TFCP2L1	29842	broad.mit.edu	37	2	122038715	122038715	+	Silent	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:122038715C>T	ENST00000263707.5	-	2	292	c.195G>A	c.(193-195)acG>acA	p.T65T		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	65					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GGTAGGTCAGCGTCTCTTCAT	0.627																																						uc002tmx.2		NA																	0				pancreas(2)|ovary(1)	3						c.(193-195)ACG>ACA		LBP-9							76.0	79.0	78.0					2																	122038715		2203	4300	6503	SO:0001819	synonymous_variant	29842				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:122038715C>T	AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.195G>A	2.37:g.122038715C>T						TFCP2L1_uc010flr.2_Silent_p.T65T	p.T65T	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN			2	288	-	Renal(3;0.01)		65					Q4ZG43	Silent	SNP	ENST00000263707.5	37	c.195G>A	CCDS2134.1																																																																																				0.627	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553		12	69	0	0	0	0	12	69				
DPP4	1803	broad.mit.edu	37	2	162902113	162902113	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:162902113C>G	ENST00000360534.3	-	5	855	c.295G>C	c.(295-297)Gga>Cga	p.G99R		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	99					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	ATAGAATGTCCAAACTCATCC	0.343																																						uc002ubz.2		NA																	0				ovary(3)	3						c.(295-297)GGA>CGA		dipeptidylpeptidase IV	Sitagliptin(DB01261)						71.0	73.0	73.0					2																	162902113		2203	4300	6503	SO:0001583	missense	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162902113C>G	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.295G>C	2.37:g.162902113C>G	ENSP00000353731:p.Gly99Arg					DPP4_uc010fpb.2_5'UTR|DPP4_uc002uca.1_RNA|DPP4_uc002ucb.1_RNA	p.G99R	NM_001935	NP_001926	P27487	DPP4_HUMAN			5	856	-			99			Extracellular (Potential).		Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	c.295G>C	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753280	0.31046	.	.	ENSG00000197635	ENST00000360534	D	0.96300	-3.97	4.15	3.25	0.37280	.	0.508000	0.18039	N	0.153666	D	0.92919	0.7747	M	0.62723	1.935	0.09310	N	1	P	0.35107	0.484	B	0.27608	0.081	D	0.86697	0.1927	10	0.42905	T	0.14	-30.0924	7.2087	0.25921	0.1955:0.615:0.1894:0.0	.	99	P27487	DPP4_HUMAN	R	99	ENSP00000353731:G99R	ENSP00000353731:G99R	G	-	1	0	DPP4	162610359	0.346000	0.24844	0.212000	0.23672	0.984000	0.73092	1.117000	0.31234	1.086000	0.41228	0.462000	0.41574	GGA		0.343	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			12	46	0	0	0	0	12	46				
TTN	7273	broad.mit.edu	37	2	179424503	179424503	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:179424503C>G	ENST00000591111.1	-	276	81657	c.81433G>C	c.(81433-81435)Gtc>Ctc	p.V27145L	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V19913L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V19721L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V26218L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V28786L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V19846L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27145	Ig-like 129.				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)			CTCCACAAGACATTGGGTACT	0.438																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(78652-78654)GTC>CTC		titin isoform N2-A							163.0	160.0	161.0					2																	179424503		2076	4234	6310	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179424503C>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.81433G>C	2.37:g.179424503C>G	ENSP00000465570:p.Val27145Leu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V19913L|TTN_uc010zfi.1_Missense_Mutation_p.V19846L|TTN_uc010zfj.1_Missense_Mutation_p.V19721L	p.V26218L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	78876	-			27145					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.78652G>C		.	.	.	.	.	.	.	.	.	.	C	15.77	2.932163	0.52866	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	5.87	5.87	0.94306	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.82061	0.4955	M	0.80028	2.48	0.80722	D	1	P;P;P;P	0.41710	0.76;0.76;0.76;0.63	P;P;P;B	0.45538	0.484;0.484;0.484;0.389	D	0.83619	0.0138	9	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	19721;19846;19913;27145	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	26218;19721;19913;19846;19718	ENSP00000343764:V26218L;ENSP00000434586:V19721L;ENSP00000340554:V19913L;ENSP00000352154:V19846L	ENSP00000340554:V19913L	V	-	1	0	TTN	179132749	1.000000	0.71417	0.108000	0.21378	0.992000	0.81027	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	GTC		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		38	93	0	0	0	0	38	93				
TTN	7273	broad.mit.edu	37	2	179456614	179456614	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:179456614G>C	ENST00000591111.1	-	253	55233	c.55009C>G	c.(55009-55011)Cca>Gca	p.P18337A	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P11105A|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P10913A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P17410A|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P19978A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P11038A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18337					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)			GGTGGCCCTGGGGGATCTTTT	0.428																																						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.(52228-52230)CCA>GCA		titin isoform N2-A							56.0	55.0	55.0					2																	179456614		1818	4068	5886	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179456614G>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.55009C>G	2.37:g.179456614G>C	ENSP00000465570:p.Pro18337Ala					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P11105A|TTN_uc010zfi.1_Missense_Mutation_p.P11038A|TTN_uc010zfj.1_Missense_Mutation_p.P10913A	p.P17410A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		252	52452	-			18337					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.52228C>G		.	.	.	.	.	.	.	.	.	.	G	12.91	2.080297	0.36662	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61859	0.07;0.07;0.07;0.07	6.16	6.16	0.99307	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84261	0.5433	H	0.94345	3.525	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.87578	0.994;0.998;0.998;0.994	D	0.87010	0.2122	9	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	10913;11038;11105;18337	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	17410;10913;11105;11038;10911	ENSP00000343764:P17410A;ENSP00000434586:P10913A;ENSP00000340554:P11105A;ENSP00000352154:P11038A	ENSP00000340554:P11105A	P	-	1	0	TTN	179164860	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.807000	0.99171	2.937000	0.99478	0.650000	0.86243	CCA		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	65	0	0	0	0	3	65				
DES	1674	broad.mit.edu	37	2	220286275	220286275	+	Nonsense_Mutation	SNP	G	G	T	rs61726467		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:220286275G>T	ENST00000373960.3	+	6	1323	c.1237G>T	c.(1237-1239)Gag>Tag	p.E413*		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	413	Tail.				cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGAGGGAGAGGAGAGCCGGTG	0.622																																						uc002vll.2		NA																	0				central_nervous_system(2)	2	GRCh37	CM071702	DES	M		c.(1237-1239)GAG>TAG		desmin							33.0	33.0	33.0					2																	220286275		2203	4300	6503	SO:0001587	stop_gained	1674				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	g.chr2:220286275G>T	AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"""Intermediate filaments type III"""	2770	protein-coding gene	gene with protein product	"""intermediate filament protein"""	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.1237G>T	2.37:g.220286275G>T	ENSP00000363071:p.Glu413*						p.E413*	NM_001927	NP_001918	P17661	DESM_HUMAN		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)	6	1323	+		Renal(207;0.0183)	413			Tail.		Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Nonsense_Mutation	SNP	ENST00000373960.3	37	c.1237G>T	CCDS33383.1	.	.	.	.	.	.	.	.	.	.	G	38	7.166213	0.98107	.	.	ENSG00000175084	ENST00000373960	.	.	.	4.94	4.94	0.65067	.	0.000000	0.48286	D	0.000181	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9682	0.89105	0.0:0.0:1.0:0.0	.	.	.	.	X	413	.	ENSP00000363071:E413X	E	+	1	0	DES	219994519	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.519000	0.98025	2.544000	0.85801	0.655000	0.94253	GAG		0.622	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	NM_001927		14	44	1	0	7.93e-07	1.45e-06	14	44				
SEL1L2	80343	broad.mit.edu	37	20	13839936	13839936	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr20:13839936A>T	ENST00000284951.5	-	18	1864	c.1790T>A	c.(1789-1791)aTg>aAg	p.M597K	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Intron			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	597						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GTGTTCATACATATAAGCCAG	0.413																																						uc010gcf.2		NA																	0				ovary(2)	2						c.(1789-1791)ATG>AAG		sel-1 suppressor of lin-12-like 2 precursor							180.0	165.0	170.0					20																	13839936		2037	4190	6227	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13839936A>T	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1790T>A	20.37:g.13839936A>T	ENSP00000284951:p.Met597Lys					SEL1L2_uc002woq.3_Missense_Mutation_p.M458K|SEL1L2_uc010zrl.1_Intron|SEL1L2_uc002wor.2_RNA	p.M597K	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			18	1872	-			597			Extracellular (Potential).|Sel1-like 11.		B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1790T>A		.	.	.	.	.	.	.	.	.	.	A	22.0	4.226297	0.79576	.	.	ENSG00000101251	ENST00000284951	T	0.56776	0.44	5.5	5.5	0.81552	Tetratricopeptide-like helical (1);	0.078660	0.56097	D	0.000033	T	0.79257	0.4415	H	0.95004	3.61	0.80722	D	1	D	0.64830	0.994	D	0.75020	0.985	D	0.85059	0.0933	10	0.87932	D	0	-13.5822	13.5549	0.61754	1.0:0.0:0.0:0.0	.	597	Q5TEA6	SE1L2_HUMAN	K	597	ENSP00000284951:M597K	ENSP00000284951:M597K	M	-	2	0	SEL1L2	13787936	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	8.502000	0.90505	2.100000	0.63781	0.533000	0.62120	ATG		0.413	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		8	31	0	0	0	0	8	31				
EVA1C	59271	broad.mit.edu	37	21	33876236	33876236	+	Splice_Site	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr21:33876236G>A	ENST00000300255.2	+	7	1333	c.860G>A	c.(859-861)gGt>gAt	p.G287D	EVA1C_ENST00000485488.1_3'UTR|EVA1C_ENST00000401402.3_Splice_Site_p.G239D|EVA1C_ENST00000382699.3_Splice_Site_p.G284D	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	287						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										CATGAAACAGGTATAAACTTC	0.458																																						uc002ypr.1		NA																	0				ovary(2)|pancreas(1)	3						c.(859-861)GGT>GAT		hypothetical protein LOC59271 precursor							115.0	112.0	113.0					21																	33876236		2203	4300	6503	SO:0001630	splice_region_variant	59271					integral to membrane	sugar binding	g.chr21:33876236G>A	AF358258	CCDS13614.1, CCDS68186.1	21q22.11	2012-11-05	2012-11-05	2012-11-05	ENSG00000166979	ENSG00000166979			13239	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 64"", ""chromosome 21 open reading frame 63"", ""family with sequence similarity 176, member C"""	C21orf64, C21orf63, FAM176C		11707072, 19470522	Standard	NM_058187		Approved	B18, PRED34, B19	uc002ypr.1	P58658	OTTHUMG00000064922	ENST00000300255.2:c.860-1G>A	21.37:g.33876236G>A						C21orf63_uc002yps.1_RNA|C21orf63_uc010glw.1_Missense_Mutation_p.G284D|C21orf63_uc002ypt.1_RNA|C21orf63_uc002ypu.1_Missense_Mutation_p.G192D|C21orf63_uc011adq.1_5'UTR	p.G287D	NM_058187	NP_478067	P58658	CU063_HUMAN			7	1270	+			287			Extracellular (Potential).		A6ND58|Q8IXZ0	Missense_Mutation	SNP	ENST00000300255.2	37	c.860G>A	CCDS13614.1	.	.	.	.	.	.	.	.	.	.	G	2.822	-0.244606	0.05906	.	.	ENSG00000166979	ENST00000300255;ENST00000401402;ENST00000382699	T;T;T	0.08720	3.07;3.11;3.06	4.73	1.38	0.22167	.	0.495491	0.20631	U	0.088597	T	0.06781	0.0173	L	0.40543	1.245	0.41062	D	0.985388	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.002	T	0.30268	-0.9984	9	.	.	.	.	9.2667	0.37645	0.4082:0.0:0.5918:0.0	.	284;287	A6ND58;P58658	.;CU063_HUMAN	D	287;239;284	ENSP00000300255:G287D;ENSP00000384594:G239D;ENSP00000372146:G284D	.	G	+	2	0	C21orf63	32798107	0.999000	0.42202	0.446000	0.26920	0.188000	0.23474	0.803000	0.27083	0.423000	0.26033	-0.463000	0.05309	GGT		0.458	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139403.1	NM_058187	Missense_Mutation	38	92	0	0	0	0	38	92				
U2AF1	7307	broad.mit.edu	37	21	44521518	44521518	+	Intron	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr21:44521518G>A	ENST00000291552.4	-	3	225				U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000486519.1_Intron|U2AF1_ENST00000459639.1_Intron|U2AF1_ENST00000380276.2_Missense_Mutation_p.R53C	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|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)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						TGGGGATTACGATAGATGTTT	0.398			Mis		"""CLL, MDS"""																																	uc002zda.1		NA		Dom	yes		21	21q22.3	7307		U2 small nuclear RNA auxiliary factor 1			L					0					0						c.(157-159)CGT>TGT		U2 small nuclear RNA auxillary factor 1 isoform							239.0	260.0	253.0					21																	44521518		2203	4300	6503	SO:0001627	intron_variant	7307				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr21:44521518G>A	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.133-889C>T	21.37:g.44521518G>A						U2AF1_uc002zcy.1_Intron|U2AF1_uc002zcz.1_5'UTR|U2AF1_uc002zdb.1_Intron|U2AF1_uc010gpi.1_Intron|U2AF1_uc002zdc.1_Missense_Mutation_p.R53C	p.R53C	NM_001025203	NP_001020374	Q01081	U2AF1_HUMAN			3	241	-			53					Q701P4|Q71RF1	Missense_Mutation	SNP	ENST00000291552.4	37	c.157C>T	CCDS13694.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700409	0.48307	.	.	ENSG00000160201	ENST00000380276	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	T	0.56441	0.1985	.	.	.	0.80722	D	1	B;B	0.22800	0.006;0.075	B;B	0.10450	0.004;0.005	T	0.56535	-0.7963	7	0.59425	D	0.04	-5.8382	16.5708	0.84612	0.0:0.0:1.0:0.0	.	53;53	Q69YM7;Q701P4	.;.	C	53	.	ENSP00000369629:R53C	R	-	1	0	U2AF1	43394587	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.035000	0.88872	2.331000	0.79229	0.655000	0.94253	CGT		0.398	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		79	314	0	0	0	0	79	314				
AIRE	326	broad.mit.edu	37	21	45709685	45709685	+	Splice_Site	SNP	C	C	T	rs41277550	byFrequency	TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr21:45709685C>T	ENST00000291582.5	+	6	925	c.798C>T	c.(796-798)ccC>ccT	p.P266P	AIRE_ENST00000355347.4_5'Flank|AIRE_ENST00000329347.4_5'Flank	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	266	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GCGCTGCCCCCGTAAGCACCT	0.682									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																													uc002zei.2		NA																	0				skin(1)	1						c.(796-798)CCC>CCT		autoimmune regulator isoform 1		C		18,4380		0,18,2181	26.0	32.0	30.0		798	-7.9	0.0	21	dbSNP_127	30	0,8596		0,0,4298	no	coding-synonymous-near-splice	AIRE	NM_000383.2		0,18,6479	TT,TC,CC		0.0,0.4093,0.1385		266/546	45709685	18,12976	2199	4298	6497	SO:0001630	splice_region_variant	326	Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy	Familial Cancer Database	APECED	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	g.chr21:45709685C>T	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"""Zinc fingers, PHD-type"""	360	protein-coding gene	gene with protein product	"""autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"""	607358	"""autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"""	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.798+1C>T	21.37:g.45709685C>T						AIRE_uc010gpq.2_5'Flank|AIRE_uc002zej.2_5'Flank|AIRE_uc010gpr.2_5'Flank	p.P266P	NM_000383	NP_000374	O43918	AIRE_HUMAN		Colorectal(79;0.0806)	6	925	+			266			SAND.		B2RP50|O43922|O43932|O75745	Silent	SNP	ENST00000291582.5	37	c.798C>T	CCDS13706.1																																																																																				0.682	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2		Silent	18	34	0	0	0	0	18	34				
KLHL22	84861	broad.mit.edu	37	22	20800823	20800823	+	Silent	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr22:20800823C>T	ENST00000328879.4	-	6	1602	c.1446G>A	c.(1444-1446)cgG>cgA	p.R482R	KLHL22_ENST00000440659.2_Silent_p.R339R	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	482					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCCAGGCGCGCCGCACAGGCC	0.602																																						uc002zsl.1		NA																	0				lung(1)	1						c.(1444-1446)CGG>CGA		kelch-like							170.0	131.0	144.0					22																	20800823		2203	4300	6503	SO:0001819	synonymous_variant	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20800823C>T		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1446G>A	22.37:g.20800823C>T						KLHL22_uc011ahr.1_Silent_p.R339R	p.R482R	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		6	1555	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	482			Kelch 4.		A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Silent	SNP	ENST00000328879.4	37	c.1446G>A	CCDS13780.1																																																																																				0.602	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		19	93	0	0	0	0	19	93				
APOBEC3D	140564	broad.mit.edu	37	22	39421243	39421243	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr22:39421243A>C	ENST00000216099.8	+	3	786	c.379A>C	c.(379-381)Acc>Ccc	p.T127P	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.T127P	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	127					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CCCCAATGTCACCCTGACCAT	0.572																																						uc011aoe.1		NA																	0					0						c.(379-381)ACC>CCC		apolipoprotein B mRNA editing enzyme, catalytic							90.0	90.0	90.0					22																	39421243		2203	4300	6503	SO:0001583	missense	140564				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr22:39421243A>C	BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"""Apolipoprotein B mRNA editing enzymes"""	17354	protein-coding gene	gene with protein product		609900	"""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)"", ""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"""	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.379A>C	22.37:g.39421243A>C	ENSP00000216099:p.Thr127Pro					APOBEC3D_uc011aod.1_Missense_Mutation_p.T127P|APOBEC3D_uc011aof.1_Intron|APOBEC3D_uc003awu.3_Intron|APOBEC3D_uc003awt.3_Missense_Mutation_p.T127P|APOBEC3D_uc010gxu.2_Intron	p.T127P	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN			3	433	+	Melanoma(58;0.04)		127					Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Missense_Mutation	SNP	ENST00000216099.8	37	c.379A>C	CCDS46709.1	.	.	.	.	.	.	.	.	.	.	.	12.37	1.918583	0.33908	.	.	ENSG00000243811	ENST00000381568;ENST00000216099	T;T	0.66460	-0.21;-0.21	2.27	1.21	0.21127	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.81422	0.4819	M	0.89904	3.07	0.09310	N	0.999999	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.991	T	0.67181	-0.5735	9	0.72032	D	0.01	.	5.7088	0.17923	0.8483:0.0:0.1517:0.0	.	127;127	B2CML4;Q96AK3	.;ABC3D_HUMAN	P	127	ENSP00000370980:T127P;ENSP00000216099:T127P	ENSP00000216099:T127P	T	+	1	0	APOBEC3D	37751189	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.260000	0.18424	0.295000	0.22570	0.332000	0.21555	ACC		0.572	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321232.2	NM_152426		13	80	0	0	0	0	13	80				
CSDC2	27254	broad.mit.edu	37	22	41969737	41969737	+	Silent	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr22:41969737C>T	ENST00000306149.7	+	3	799	c.255C>T	c.(253-255)atC>atT	p.I85I		NM_014460.3	NP_055275.1	Q9Y534	CSDC2_HUMAN	cold shock domain containing C2, RNA binding	85	CSD.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			prostate(2)|upper_aerodigestive_tract(1)	3						ATGGCTTCATCACCCCCGAGA	0.607																																					NSCLC(181;294 2110 12667 14717 31090)	uc003bak.1		NA																	0					0						c.(253-255)ATC>ATT		RNA-binding protein pippin							134.0	113.0	120.0					22																	41969737		2203	4300	6503	SO:0001819	synonymous_variant	27254				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|RNA binding	g.chr22:41969737C>T	AL834417	CCDS14019.1	22q13.2	2006-02-24			ENSG00000172346	ENSG00000172346			30359	protein-coding gene	gene with protein product						8573167, 12767259	Standard	NM_014460		Approved	PIPPin	uc003bak.1	Q9Y534	OTTHUMG00000150967	ENST00000306149.7:c.255C>T	22.37:g.41969737C>T							p.I85I	NM_014460	NP_055275	Q9Y534	CSDC2_HUMAN			3	552	+			85			CSD.		Q8ND37	Silent	SNP	ENST00000306149.7	37	c.255C>T	CCDS14019.1																																																																																				0.607	CSDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320689.1	NM_014460		11	84	0	0	0	0	11	84				
ABHD5	51099	broad.mit.edu	37	3	43753250	43753250	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:43753250G>C	ENST00000458276.2	+	4	679	c.556G>C	c.(556-558)Gac>Cac	p.D186H		NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	186					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|negative regulation of sequestering of triglyceride (GO:0010891)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|lysophosphatidic acid acyltransferase activity (GO:0042171)			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		TGAACGACCAGACCTTGCTGA	0.453																																						uc003cmx.2		NA																	0				ovary(1)	1						c.(556-558)GAC>CAC		abhydrolase domain containing 5							152.0	136.0	141.0					3																	43753250		2203	4300	6503	SO:0001583	missense	51099				cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity	g.chr3:43753250G>C	AF007132	CCDS2711.1	3p21.33	2012-05-16			ENSG00000011198	ENSG00000011198		"""Abhydrolase domain containing"""	21396	protein-coding gene	gene with protein product		604780				11590543, 18606822	Standard	NM_016006		Approved	CGI-58, NCIE2	uc003cmx.3	Q8WTS1	OTTHUMG00000133039	ENST00000458276.2:c.556G>C	3.37:g.43753250G>C	ENSP00000390849:p.Asp186His						p.D186H	NM_016006	NP_057090	Q8WTS1	ABHD5_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)	4	666	+		Renal(3;0.0134)	186					B2R9K0|Q9Y369	Missense_Mutation	SNP	ENST00000458276.2	37	c.556G>C	CCDS2711.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280068	0.80692	.	.	ENSG00000011198	ENST00000458276;ENST00000413300	T;D	0.84298	-0.26;-1.83	6.17	5.3	0.74995	.	0.045518	0.85682	D	0.000000	D	0.87629	0.6225	L	0.53249	1.67	0.53688	D	0.999977	P	0.45715	0.865	P	0.53450	0.726	D	0.87529	0.2451	10	0.49607	T	0.09	-17.9184	13.3078	0.60363	0.0:0.1216:0.7519:0.1265	.	186	Q8WTS1	ABHD5_HUMAN	H	186;18	ENSP00000390849:D186H;ENSP00000392159:D18H	ENSP00000392159:D18H	D	+	1	0	ABHD5	43728254	0.989000	0.36119	1.000000	0.80357	0.997000	0.91878	2.763000	0.47605	1.623000	0.50342	0.655000	0.94253	GAC		0.453	ABHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256644.2	NM_016006		11	54	0	0	0	0	11	54				
RHOA	387	broad.mit.edu	37	3	49412905	49412905	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:49412905C>G	ENST00000418115.1	-	2	502	c.118G>C	c.(118-120)Gag>Cag	p.E40Q	RHOA_ENST00000422781.1_Missense_Mutation_p.E40Q|RHOA_ENST00000454011.2_Missense_Mutation_p.E40Q	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	40					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)	p.E40Q(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ACATAGTTCTCAAACACTGTG	0.438																																						uc003cwu.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)	2						c.(118-120)GAG>CAG		ras homolog gene family, member A precursor	Atorvastatin(DB01076)|Simvastatin(DB00641)						157.0	147.0	150.0					3																	49412905		2203	4300	6503	SO:0001583	missense	387				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	g.chr3:49412905C>G	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.118G>C	3.37:g.49412905C>G	ENSP00000400175:p.Glu40Gln					RHOA_uc010hku.2_5'UTR	p.E40Q	NM_001664	NP_001655	P61586	RHOA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	2	394	-			40			Effector region (Potential).		P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.118G>C	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	C	33	5.246636	0.95305	.	.	ENSG00000067560	ENST00000418115;ENST00000454011;ENST00000422781;ENST00000445425;ENST00000431929	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.89	5.89	0.94794	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.87581	0.6213	M	0.78801	2.425	0.80722	D	1	B	0.30406	0.278	P	0.45276	0.475	D	0.86575	0.1850	10	0.87932	D	0	.	18.8947	0.92419	0.0:1.0:0.0:0.0	.	40	P61586	RHOA_HUMAN	Q	40	ENSP00000400175:E40Q;ENSP00000394483:E40Q;ENSP00000413587:E40Q;ENSP00000408402:E40Q;ENSP00000400747:E40Q	ENSP00000400175:E40Q	E	-	1	0	RHOA	49387909	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.687000	0.84139	2.809000	0.96659	0.558000	0.71614	GAG		0.438	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		24	103	0	0	0	0	24	103				
PLCXD2	257068	broad.mit.edu	37	3	111426919	111426919	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:111426919G>C	ENST00000477665.1	+	2	634	c.310G>C	c.(310-312)Gaa>Caa	p.E104Q	PLCXD2_ENST00000393934.3_Missense_Mutation_p.E104Q	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	104	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						GACATTTCGAGAACAGCTGGA	0.522																																						uc003dya.2		NA																	0				skin(1)	1						c.(310-312)GAA>CAA		phosphatidylinositol-specific phospholipase C, X							95.0	93.0	94.0					3																	111426919		2203	4300	6503	SO:0001583	missense	257068				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr3:111426919G>C	AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.310G>C	3.37:g.111426919G>C	ENSP00000420686:p.Glu104Gln					PLCXD2_uc003dyb.2_Missense_Mutation_p.E104Q|PLCXD2_uc003dxz.2_Missense_Mutation_p.E104Q	p.E104Q	NM_001134478	NP_001127950	Q0VAA5	PLCX2_HUMAN			2	896	+			104			PI-PLC X-box.		Q96N12	Missense_Mutation	SNP	ENST00000477665.1	37	c.310G>C	CCDS54619.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504754	0.64410	.	.	ENSG00000240891	ENST00000393934;ENST00000477665;ENST00000468174	T;T	0.62105	0.05;0.05	5.77	5.77	0.91146	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (2);	.	.	.	.	T	0.73313	0.3571	L	0.48986	1.54	0.47994	D	0.999566	D;D;D	0.89917	0.982;1.0;1.0	P;D;D	0.75484	0.873;0.986;0.975	T	0.65055	-0.6261	9	0.16896	T	0.51	-17.7486	17.8364	0.88699	0.0:0.0:1.0:0.0	.	14;104;104	C9JB87;Q0VAA5;Q0VAA5-2	.;PLCX2_HUMAN;.	Q	104;104;14	ENSP00000377511:E104Q;ENSP00000420686:E104Q	ENSP00000377511:E104Q	E	+	1	0	PLCXD2	112909609	1.000000	0.71417	0.793000	0.32043	0.980000	0.70556	6.341000	0.72977	2.884000	0.98904	0.655000	0.94253	GAA		0.522	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354322.1	NM_153268		11	83	0	0	0	0	11	83				
KALRN	8997	broad.mit.edu	37	3	124165030	124165030	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:124165030G>T	ENST00000240874.3	+	20	3487	c.3330G>T	c.(3328-3330)caG>caT	p.Q1110H	KALRN_ENST00000460856.1_Missense_Mutation_p.Q1101H|KALRN_ENST00000360013.3_Missense_Mutation_p.Q1110H	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1110					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCTCCTGCAGAGGGAGAATC	0.577																																						uc003ehg.2		NA																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(3328-3330)CAG>CAT		kalirin, RhoGEF kinase isoform 1							105.0	94.0	98.0					3																	124165030		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124165030G>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.3330G>T	3.37:g.124165030G>T	ENSP00000240874:p.Gln1110His					KALRN_uc010hrv.1_Missense_Mutation_p.Q1101H|KALRN_uc003ehf.1_Missense_Mutation_p.Q1110H|KALRN_uc011bjy.1_Missense_Mutation_p.Q1101H|KALRN_uc003ehh.1_Missense_Mutation_p.Q456H	p.Q1110H	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			20	3457	+			1110					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.3330G>T	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.86|18.86	3.713956|3.713956	0.68730|0.68730	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.42900|.	0.96;0.96;0.96|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62804|0.62804	0.2458|0.2458	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;P;D;D|.	0.76494|.	0.999;0.847;0.99;0.999|.	D;P;D;D|.	0.77557|.	0.976;0.497;0.979;0.99|.	T|T	0.59532|0.59532	-0.7437|-0.7437	10|5	0.44086|.	T|.	0.13|.	.|.	12.3116|12.3116	0.54931|0.54931	0.0768:0.0:0.9232:0.0|0.0768:0.0:0.9232:0.0	.|.	1101;456;1110;1110|.	C9IZQ6;F2Z3Q6;O60229;O60229-2|.	.;.;KALRN_HUMAN;.|.	H|I	1101;1110;1110|1079	ENSP00000418611:Q1101H;ENSP00000240874:Q1110H;ENSP00000353109:Q1110H|.	ENSP00000240874:Q1110H|.	Q|R	+|+	3|2	2|0	KALRN|KALRN	125647720|125647720	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	4.743000|4.743000	0.62110|0.62110	2.721000|2.721000	0.93114|0.93114	0.561000|0.561000	0.74099|0.74099	CAG|AGA		0.577	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		12	60	1	0	2.27e-07	4.18e-07	12	60				
ABTB1	80325	broad.mit.edu	37	3	127395886	127395886	+	Silent	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:127395886C>T	ENST00000232744.8	+	7	689	c.603C>T	c.(601-603)ctC>ctT	p.L201L	ABTB1_ENST00000468137.1_Silent_p.L59L|ABTB1_ENST00000393363.3_Silent_p.L59L|ABTB1_ENST00000453791.2_Silent_p.L59L					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						GGGACCTGCTCAGCGACCTGG	0.667																																						uc003ejt.2		NA																	0					0						c.(601-603)CTC>CTT		ankyrin repeat and BTB (POZ) domain containing 1							68.0	63.0	65.0					3																	127395886		2203	4300	6503	SO:0001819	synonymous_variant	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127395886C>T	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.603C>T	3.37:g.127395886C>T						ABTB1_uc003ejr.2_Silent_p.L59L|ABTB1_uc003ejs.2_Silent_p.L176L|ABTB1_uc003eju.2_Silent_p.L59L|ABTB1_uc010hsm.2_5'UTR	p.L201L	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN			7	691	+			201						Silent	SNP	ENST00000232744.8	37	c.603C>T	CCDS3045.1																																																																																				0.667	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		12	43	0	0	0	0	12	43				
ARMC8	25852	broad.mit.edu	37	3	138003316	138003316	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:138003316A>G	ENST00000469044.1	+	19	2040	c.1769A>G	c.(1768-1770)aAa>aGa	p.K590R	ARMC8_ENST00000461822.1_Missense_Mutation_p.K523R|ARMC8_ENST00000485396.1_Missense_Mutation_p.K517R|NME9_ENST00000341790.5_Intron|NME9_ENST00000484930.1_Intron|ARMC8_ENST00000481646.1_Missense_Mutation_p.K576R|ARMC8_ENST00000393058.3_Missense_Mutation_p.K580R|NME9_ENST00000383180.2_Intron|NME9_ENST00000536478.1_Intron|ARMC8_ENST00000538260.1_Missense_Mutation_p.K559R|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000491704.1_Missense_Mutation_p.K548R	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	590										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						ACAACAGCAAAAGATCTTATT	0.443																																						uc003esa.1		NA																	0					0						c.(1726-1728)AAA>AGA		armadillo repeat containing 8 isoform 2							239.0	218.0	224.0					3																	138003316		1918	4136	6054	SO:0001583	missense	25852						binding	g.chr3:138003316A>G		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1769A>G	3.37:g.138003316A>G	ENSP00000419413:p.Lys590Arg					TXNDC6_uc003esd.1_Intron|TXNDC6_uc010huf.1_Intron|TXNDC6_uc003ese.1_Intron|ARMC8_uc011bmf.1_Missense_Mutation_p.K559R|ARMC8_uc011bmg.1_Missense_Mutation_p.K523R|ARMC8_uc011bmh.1_Missense_Mutation_p.K517R|ARMC8_uc003esb.1_Missense_Mutation_p.K548R|ARMC8_uc003esc.1_Missense_Mutation_p.K348R|ARMC8_uc003esf.1_Missense_Mutation_p.K159R	p.K576R	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN			20	2094	+			590			ARM 13.		A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	ENST00000469044.1	37	c.1727A>G		.	.	.	.	.	.	.	.	.	.	A	15.45	2.838579	0.51057	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000461822;ENST00000485396;ENST00000538260;ENST00000393058;ENST00000539459	T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;0.81;0.81;0.81;-0.15	5.59	5.59	0.84812	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	N	0.22421	0.69	0.80722	D	1	B;D;B;P;P	0.67145	0.412;0.996;0.404;0.956;0.77	B;D;B;P;B	0.65140	0.078;0.932;0.114;0.899;0.344	T	0.56577	-0.7956	10	0.06494	T	0.89	-12.1792	13.732	0.62794	1.0:0.0:0.0:0.0	.	517;523;559;590;576	B7Z637;B7Z441;F5GWK4;Q8IUR7;Q8IUR7-2	.;.;.;ARMC8_HUMAN;.	R	576;590;548;523;517;559;580;447	ENSP00000420333:K576R;ENSP00000419413:K590R;ENSP00000417304:K548R;ENSP00000420706:K523R;ENSP00000417049:K517R;ENSP00000441592:K559R;ENSP00000376778:K580R	ENSP00000376778:K580R	K	+	2	0	ARMC8	139486006	1.000000	0.71417	0.997000	0.53966	0.928000	0.56348	8.523000	0.90576	2.127000	0.65507	0.528000	0.53228	AAA		0.443	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396		77	156	0	0	0	0	77	156				
RBP2	5948	broad.mit.edu	37	3	139173605	139173605	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:139173605C>T	ENST00000232217.2	-	3	376	c.320G>A	c.(319-321)tGg>tAg	p.W107*	RP11-319G6.1_ENST00000515247.1_RNA|RP11-319G6.1_ENST00000510068.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	107					epidermis development (GO:0008544)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	CCACTGCTTCCAGCCGCGGTT	0.532																																						uc003eth.2		NA																	0				skin(1)	1						c.(319-321)TGG>TAG		retinol binding protein 2, cellular	Vitamin A(DB00162)						240.0	205.0	217.0					3																	139173605		2203	4300	6503	SO:0001587	stop_gained	5948				epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity	g.chr3:139173605C>T	U13831	CCDS3109.1	3q23	2013-03-01	2001-11-28		ENSG00000114113	ENSG00000114113		"""Fatty acid binding protein family"""	9920	protein-coding gene	gene with protein product		180280	"""retinol-binding protein 2, cellular"""			7657783, 10072590	Standard	NM_004164		Approved	CRBP2, RBPC2, CRBPII, CRABP-II	uc003eth.3	P50120	OTTHUMG00000159956	ENST00000232217.2:c.320G>A	3.37:g.139173605C>T	ENSP00000232217:p.Trp107*						p.W107*	NM_004164	NP_004155	P50120	RET2_HUMAN			3	371	-			107					A8K7G3|Q6ISQ9|Q6ISS7	Nonsense_Mutation	SNP	ENST00000232217.2	37	c.320G>A	CCDS3109.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998489	0.54147	.	.	ENSG00000114113	ENST00000232217	.	.	.	5.0	4.12	0.48240	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7206	0.77708	0.0:0.8628:0.1372:0.0	.	.	.	.	X	107	.	ENSP00000232217:W107X	W	-	2	0	RBP2	140656295	1.000000	0.71417	0.982000	0.44146	0.735000	0.41995	7.689000	0.84165	1.221000	0.43506	0.563000	0.77884	TGG		0.532	RBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358490.1	NM_004164		31	160	0	0	0	0	31	160				
GFM1	85476	broad.mit.edu	37	3	158363454	158363454	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:158363454G>A	ENST00000486715.1	+	2	475	c.118G>A	c.(118-120)Gtg>Atg	p.V40M	GFM1_ENST00000264263.5_Missense_Mutation_p.V40M|GFM1_ENST00000478576.1_Missense_Mutation_p.V40M	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTCATCAGGGGTGATTCCTAA	0.373																																						uc003fce.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(118-120)GTG>ATG		G elongation factor, mitochondrial 1 precursor							96.0	96.0	96.0					3																	158363454		2203	4300	6503	SO:0001583	missense	85476				mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:158363454G>A	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.118G>A	3.37:g.158363454G>A	ENSP00000419038:p.Val40Met					GFM1_uc003fcd.2_Missense_Mutation_p.V40M|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_5'Flank	p.V40M	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		2	225	+			40						Missense_Mutation	SNP	ENST00000486715.1	37	c.118G>A	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450055	0.43531	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	T;T;T	0.72725	-0.1;-0.68;-0.11	5.43	0.03	0.14165	.	0.584311	0.18385	N	0.142848	T	0.42337	0.1198	N	0.08118	0	0.18873	N	0.999986	B;B	0.32203	0.36;0.36	B;B	0.32090	0.088;0.14	T	0.34601	-0.9822	10	0.66056	D	0.02	-6.3493	1.8108	0.03090	0.3648:0.1275:0.3777:0.13	.	40;40	Q96RP9;C9IZ01	EFGM_HUMAN;.	M	40	ENSP00000419038:V40M;ENSP00000418755:V40M;ENSP00000264263:V40M	ENSP00000264263:V40M	V	+	1	0	GFM1	159846148	0.000000	0.05858	0.209000	0.23619	0.994000	0.84299	-0.470000	0.06639	-0.078000	0.12730	0.655000	0.94253	GTG		0.373	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		10	49	0	0	0	0	10	49				
HTR3E	285242	broad.mit.edu	37	3	183824397	183824397	+	Silent	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:183824397C>T	ENST00000415389.2	+	9	1753	c.1287C>T	c.(1285-1287)caC>caT	p.H429H	HTR3E_ENST00000436361.2_Silent_p.H429H|HTR3E_ENST00000425359.2_Silent_p.H414H|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000335304.2_Silent_p.H444H|HTR3E_ENST00000440596.2_Silent_p.H455H	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	429					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	AGTTCAGCCACGCGATGGACG	0.607																																					Melanoma(7;227 727 6634 44770)	uc010hxq.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1285-1287)CAC>CAT		5-hydroxytryptamine receptor 3 subunit E							168.0	150.0	156.0					3																	183824397		2203	4300	6503	SO:0001819	synonymous_variant	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183824397C>T	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.1287C>T	3.37:g.183824397C>T						HTR3E_uc003fml.3_Silent_p.H414H|HTR3E_uc003fmm.2_Silent_p.H444H|HTR3E_uc010hxr.2_Silent_p.H455H|HTR3E_uc003fmn.2_Silent_p.H429H	p.H429H	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		9	1753	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		429			Cytoplasmic (Potential).		A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Silent	SNP	ENST00000415389.2	37	c.1287C>T	CCDS58868.1																																																																																				0.607	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589		22	97	0	0	0	0	22	97				
KIAA0226	9711	broad.mit.edu	37	3	197427812	197427812	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:197427812C>G	ENST00000296343.5	-	7	932	c.933G>C	c.(931-933)caG>caC	p.Q311H	KIAA0226_ENST00000273582.5_Missense_Mutation_p.Q251H|KIAA0226_ENST00000449205.1_Missense_Mutation_p.Q311H|KIAA0226_ENST00000467303.1_5'Flank|KIAA0226_ENST00000389665.5_Missense_Mutation_p.Q311H	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	311	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GGGAATCATTCTGGCTGCTGA	0.577																																					Esophageal Squamous(3;167 355 3763 15924)	uc003fyc.2		NA																	0					0						c.(931-933)CAG>CAC		hypothetical protein LOC9711 isoform 2.							46.0	49.0	48.0					3																	197427812		1948	4154	6102	SO:0001583	missense	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197427812C>G	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.933G>C	3.37:g.197427812C>G	ENSP00000296343:p.Gln311His					KIAA0226_uc003fyd.3_Missense_Mutation_p.Q251H|KIAA0226_uc003fye.1_Missense_Mutation_p.Q18H|KIAA0226_uc003fyf.2_Missense_Mutation_p.Q144H|KIAA0226_uc003fyg.2_Missense_Mutation_p.Q304H	p.Q311H	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	7	1116	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		311			Ser-rich.		Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	c.933G>C	CCDS43195.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.93|13.93|13.93	2.385062|2.385062|2.385062	0.42308|0.42308|0.42308	.|.|.	.|.|.	ENSG00000145016|ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000273582;ENST00000296343;ENST00000389665;ENST00000449205|ENST00000415452	.|.|.	.|.|.	.|.|.	5.85|5.85|5.85	3.97|3.97|3.97	0.46021|0.46021|0.46021	.|.|.	.|0.200075|.	.|0.44097|.	.|D|.	.|0.000496|.	T|T|T	0.40015|0.40015|0.40015	0.1100|0.1100|0.1100	L|L|L	0.32530|0.32530|0.32530	0.975|0.975|0.975	0.31133|0.31133|0.31133	N|N|N	0.707522|0.707522|0.707522	.|P;P;P;P;P|.	.|0.52316|.	.|0.952;0.776;0.951;0.883;0.832|.	.|P;P;P;P;B|.	.|0.55545|.	.|0.778;0.583;0.632;0.632;0.332|.	T|T|T	0.41270|0.41270|0.41270	-0.9518|-0.9518|-0.9518	5|9|5	.|0.52906|.	.|T|.	.|0.07|.	.|.|.	9.0836|9.0836|9.0836	0.36567|0.36567|0.36567	0.0:0.7612:0.0:0.2388|0.0:0.7612:0.0:0.2388|0.0:0.7612:0.0:0.2388	.|.|.	.|311;144;311;251;311|.	.|E9PEM3;Q5HYI6;Q92622-3;Q92622-2;Q92622|.	.|.;.;.;.;RUBIC_HUMAN|.	Q|H|T	290|251;311;311;311|70	.|.|.	.|ENSP00000273582:Q251H|.	E|Q|R	-|-|-	1|3|2	0|2|0	KIAA0226|KIAA0226|KIAA0226	198912209|198912209|198912209	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.990000|0.990000|0.990000	0.78478|0.78478|0.78478	0.645000|0.645000|0.645000	0.24782|0.24782|0.24782	0.722000|0.722000|0.722000	0.32252|0.32252|0.32252	-0.345000|-0.345000|-0.345000	0.07892|0.07892|0.07892	GAA|CAG|AGA		0.577	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		9	61	0	0	0	0	9	61				
ADD1	118	broad.mit.edu	37	4	2877732	2877732	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:2877732G>C	ENST00000398129.1	+	1	110	c.90G>C	c.(88-90)gaG>gaC	p.E30D	ADD1_ENST00000503455.2_Missense_Mutation_p.E30D|ADD1_ENST00000264758.7_Missense_Mutation_p.E30D|ADD1_ENST00000513328.2_Missense_Mutation_p.E30D|ADD1_ENST00000398123.2_Missense_Mutation_p.E30D|ADD1_ENST00000398125.1_Missense_Mutation_p.E30D|ADD1_ENST00000355842.3_Missense_Mutation_p.E30D|ADD1_ENST00000446856.1_Missense_Mutation_p.E30D			P35611	ADDA_HUMAN	adducin 1 (alpha)	30					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAGTAGATGAGAACAACCCAG	0.517																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	uc003gfr.2		NA																	0				ovary(1)	1						c.(88-90)GAG>GAC		adducin 1 (alpha) isoform a							144.0	140.0	141.0					4																	2877732		2203	4300	6503	SO:0001583	missense	118				actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	g.chr4:2877732G>C	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.90G>C	4.37:g.2877732G>C	ENSP00000381197:p.Glu30Asp					ADD1_uc003gfn.2_Intron|ADD1_uc010ico.1_Missense_Mutation_p.E30D|ADD1_uc003gfo.2_Missense_Mutation_p.E30D|ADD1_uc003gfp.2_Missense_Mutation_p.E30D|ADD1_uc003gfq.2_Missense_Mutation_p.E30D|ADD1_uc003gfs.2_Missense_Mutation_p.E30D|ADD1_uc003gft.3_Missense_Mutation_p.E30D	p.E30D	NM_001119	NP_001110	P35611	ADDA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	278	+			30					A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	37	c.90G>C	CCDS43205.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241575	0.58995	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000398124;ENST00000511797;ENST00000513328;ENST00000508277;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	T;T;T;T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39	4.99	3.23	0.37069	.	0.000000	0.85682	D	0.000000	T	0.55832	0.1945	M	0.81942	2.565	0.51767	D	0.99993	P;P;D;P;B;D;B	0.67145	0.729;0.729;0.992;0.729;0.032;0.996;0.019	B;B;D;B;B;D;B	0.76071	0.411;0.411;0.986;0.411;0.091;0.987;0.042	T	0.55256	-0.8169	10	0.36615	T	0.2	-20.0666	8.3238	0.32145	0.3552:0.0:0.6448:0.0	.	30;30;30;30;30;30;30	E7ENY0;B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8	.;.;.;ADDA_HUMAN;.;.;.	D	30	ENSP00000264758:E30D;ENSP00000399828:E30D;ENSP00000381193:E30D;ENSP00000421918:E30D;ENSP00000421907:E30D;ENSP00000426700:E30D;ENSP00000423024:E30D;ENSP00000348100:E30D;ENSP00000381191:E30D;ENSP00000381197:E30D	ENSP00000264758:E30D	E	+	3	2	ADD1	2847530	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	1.402000	0.34600	1.338000	0.45544	0.591000	0.81541	GAG		0.517	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		27	98	0	0	0	0	27	98				
ABLIM2	84448	broad.mit.edu	37	4	8021358	8021358	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:8021358G>C	ENST00000341937.5	-	13	1375	c.1311C>G	c.(1309-1311)atC>atG	p.I437M	ABLIM2_ENST00000361581.5_Missense_Mutation_p.I437M|ABLIM2_ENST00000514025.1_Missense_Mutation_p.I171M|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000428004.2_Intron|ABLIM2_ENST00000515079.1_5'Flank|ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000318888.4_Missense_Mutation_p.I171M|ABLIM2_ENST00000545242.1_Missense_Mutation_p.I437M|ABLIM2_ENST00000296372.8_Missense_Mutation_p.I437M|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000447017.2_Missense_Mutation_p.I470M|ABLIM2_ENST00000546334.1_Intron	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	437					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GCTGTCTGTAGATAGGGGGTT	0.473																																						uc003gko.2		NA																	0				pancreas(3)	3						c.(1309-1311)ATC>ATG		actin binding LIM protein family, member 2							112.0	113.0	113.0					4																	8021358		1568	3582	5150	SO:0001583	missense	84448				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	g.chr4:8021358G>C	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.1311C>G	4.37:g.8021358G>C	ENSP00000342813:p.Ile437Met					ABLIM2_uc003gkk.2_Missense_Mutation_p.I100M|ABLIM2_uc003gkl.2_Missense_Mutation_p.I164M|ABLIM2_uc003gkj.3_Missense_Mutation_p.I470M|ABLIM2_uc003gkm.3_Intron|ABLIM2_uc003gkp.2_Intron|ABLIM2_uc003gkq.2_Missense_Mutation_p.I437M|ABLIM2_uc003gkr.2_Intron|ABLIM2_uc003gks.3_Intron	p.I437M	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN			13	1454	-			437					E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Missense_Mutation	SNP	ENST00000341937.5	37	c.1311C>G	CCDS47013.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978030	0.74360	.	.	ENSG00000163995	ENST00000400045;ENST00000296372;ENST00000545242;ENST00000318888;ENST00000514025;ENST00000447017;ENST00000341937;ENST00000361581;ENST00000510277	T;T;T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.75860	0.3907	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.996	D;D;D;D;D	0.91635	0.991;0.973;0.999;0.995;0.957	T	0.81378	-0.0960	10	0.72032	D	0.01	.	17.4808	0.87672	0.0:0.0:1.0:0.0	.	437;437;171;437;470	Q6H8Q1-2;Q6H8Q1;Q6H8Q1-4;Q6H8Q1-5;E9PF39	.;ABLM2_HUMAN;.;.;.	M	469;437;437;171;171;470;437;437;238	ENSP00000296372:I437M;ENSP00000441255:I437M;ENSP00000317020:I171M;ENSP00000423661:I171M;ENSP00000393511:I470M;ENSP00000342813:I437M;ENSP00000355003:I437M;ENSP00000421718:I238M	ENSP00000296372:I437M	I	-	3	3	ABLIM2	8072258	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.337000	0.90036	2.190000	0.69967	0.650000	0.86243	ATC		0.473	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083		13	55	0	0	0	0	13	55				
SLIT2	9353	broad.mit.edu	37	4	20541203	20541203	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:20541203A>G	ENST00000504154.1	+	19	2224	c.1972A>G	c.(1972-1974)Act>Gct	p.T658A	SLIT2_ENST00000503823.1_Missense_Mutation_p.T650A|SLIT2_ENST00000503837.1_Missense_Mutation_p.T654A|SLIT2_ENST00000273739.5_Missense_Mutation_p.T662A	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	658					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						TTCTTTATCTACTCTGTAAGT	0.299																																						uc003gpr.1		NA																	0				central_nervous_system(4)|skin(4)|ovary(3)	11						c.(1972-1974)ACT>GCT		slit homolog 2 precursor							84.0	80.0	82.0					4																	20541203		2203	4300	6503	SO:0001583	missense	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.chr4:20541203A>G	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.1972A>G	4.37:g.20541203A>G	ENSP00000422591:p.Thr658Ala					SLIT2_uc003gps.1_Missense_Mutation_p.T650A	p.T658A	NM_004787	NP_004778	O94813	SLIT2_HUMAN			19	2176	+			658					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.1972A>G	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	A	18.55	3.649348	0.67358	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.48857	0.1523	L	0.38531	1.155	0.80722	D	1	P;P	0.35468	0.47;0.503	B;B	0.38683	0.268;0.279	T	0.52298	-0.8594	10	0.62326	D	0.03	.	15.9513	0.79840	1.0:0.0:0.0:0.0	.	650;658	O94813-3;O94813	.;SLIT2_HUMAN	A	650;658;662;654;654	ENSP00000427548:T650A;ENSP00000422591:T658A;ENSP00000273739:T662A;ENSP00000422261:T654A	ENSP00000273739:T662A	T	+	1	0	SLIT2	20150301	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.326000	0.96389	2.163000	0.67991	0.533000	0.62120	ACT		0.299	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			9	33	0	0	0	0	9	33				
KCTD8	386617	broad.mit.edu	37	4	44177085	44177085	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:44177085G>A	ENST00000360029.3	-	2	1427	c.1144C>T	c.(1144-1146)Cac>Tac	p.H382Y		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	382					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTAGGTTGGTGAGCTGTTGCC	0.507										HNSCC(17;0.042)																												uc003gwu.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1144-1146)CAC>TAC		potassium channel tetramerisation domain							158.0	152.0	154.0					4																	44177085		2203	4300	6503	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44177085G>A	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1144C>T	4.37:g.44177085G>A	ENSP00000353129:p.His382Tyr	HNSCC(17;0.042)					p.H382Y	NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN			2	1428	-			382					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.1144C>T	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.442427	0.25987	.	.	ENSG00000183783	ENST00000360029	T	0.38077	1.16	4.47	4.47	0.54385	.	0.121593	0.36854	N	0.002366	T	0.20414	0.0491	N	0.14661	0.345	0.31912	N	0.61459	D	0.53462	0.96	B	0.33960	0.173	T	0.31641	-0.9936	10	0.72032	D	0.01	.	16.6386	0.85065	0.0:0.0:1.0:0.0	.	382	Q6ZWB6	KCTD8_HUMAN	Y	382	ENSP00000353129:H382Y	ENSP00000353129:H382Y	H	-	1	0	KCTD8	43871842	1.000000	0.71417	0.993000	0.49108	0.155000	0.21991	9.089000	0.94137	2.469000	0.83416	0.585000	0.79938	CAC		0.507	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			22	140	0	0	0	0	22	140				
UGT2A1	10941	broad.mit.edu	37	4	70513058	70513058	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:70513058G>A	ENST00000503640.1	-	1	360	c.305C>T	c.(304-306)tCa>tTa	p.S102L	UGT2A1_ENST00000512704.1_Missense_Mutation_p.S102L|UGT2A1_ENST00000514019.1_Missense_Mutation_p.S102L|UGT2A1_ENST00000286604.4_Missense_Mutation_p.S102L	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	102					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CCAAATGGTTGAAGGAGATGG	0.413																																						uc003hem.3		NA																	0				ovary(1)	1						c.(304-306)TCA>TTA		UDP glucuronosyltransferase 2 family,							86.0	81.0	83.0					4																	70513058		2203	4300	6503	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity	g.chr4:70513058G>A	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.305C>T	4.37:g.70513058G>A	ENSP00000424478:p.Ser102Leu					UGT2A1_uc011caq.1_Missense_Mutation_p.S102L|UGT2A1_uc010ihu.2_Missense_Mutation_p.S102L|UGT2A1_uc010iht.2_Missense_Mutation_p.S102L	p.S102L	NM_006798	NP_006789	Q9Y4X1	UD2A1_HUMAN			1	368	-			102			Extracellular (Potential).		B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.305C>T	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	G	9.625	1.134993	0.21123	.	.	ENSG00000173610	ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604;ENST00000505512	T;T;T;T;T	0.60548	0.22;0.18;0.22;0.22;0.22	5.78	3.96	0.45880	.	0.551239	0.19081	N	0.123254	T	0.33118	0.0852	N	0.04043	-0.29	.	.	.	B;B;B;B	0.13594	0.008;0.001;0.0;0.0	B;B;B;B	0.17433	0.018;0.005;0.002;0.002	T	0.32798	-0.9893	9	0.29301	T	0.29	.	9.6905	0.40125	0.1801:0.0:0.8199:0.0	.	102;102;102;102	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1	.;.;.;UD2A1_HUMAN	L	102	ENSP00000424478:S102L;ENSP00000421432:S102L;ENSP00000425497:S102L;ENSP00000286604:S102L;ENSP00000427709:S102L	ENSP00000286604:S102L	S	-	2	0	UGT2A1	70547647	0.402000	0.25311	0.995000	0.50966	0.988000	0.76386	1.447000	0.35101	0.716000	0.32124	0.591000	0.81541	TCA		0.413	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		11	60	0	0	0	0	11	60				
MMRN1	22915	broad.mit.edu	37	4	90857719	90857719	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:90857719T>C	ENST00000394980.1	+	7	3207	c.2888T>C	c.(2887-2889)cTa>cCa	p.L963P	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.L963P|MMRN1_ENST00000508372.1_Missense_Mutation_p.L705P			Q13201	MMRN1_HUMAN	multimerin 1	963					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAGAAAGGTCTAACAGAATTT	0.378																																						uc003hst.2		NA																	0				ovary(4)	4						c.(2887-2889)CTA>CCA		multimerin 1							56.0	57.0	56.0					4																	90857719		2203	4299	6502	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857719T>C	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2888T>C	4.37:g.90857719T>C	ENSP00000378431:p.Leu963Pro					MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.L705P	p.L963P	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	6	2959	+		Hepatocellular(203;0.114)	963					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.2888T>C	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	T	10.42	1.343981	0.24339	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.75260	-0.64;-0.64;-0.92	5.1	5.1	0.69264	.	0.335242	0.25613	N	0.029464	D	0.83552	0.5279	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	D	0.85409	0.1136	10	0.72032	D	0.01	.	15.6005	0.76620	0.0:0.0:0.0:1.0	.	963	Q13201	MMRN1_HUMAN	P	963;963;705	ENSP00000378431:L963P;ENSP00000264790:L963P;ENSP00000426461:L705P	ENSP00000264790:L963P	L	+	2	0	MMRN1	91076742	0.978000	0.34361	0.254000	0.24359	0.051000	0.14879	5.148000	0.64857	2.225000	0.72522	0.533000	0.62120	CTA		0.378	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		18	37	0	0	0	0	18	37				
ALPK1	80216	broad.mit.edu	37	4	113353568	113353568	+	Silent	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:113353568G>C	ENST00000458497.1	+	11	3144	c.2865G>C	c.(2863-2865)ggG>ggC	p.G955G	ALPK1_ENST00000177648.9_Silent_p.G955G|ALPK1_ENST00000504176.2_Silent_p.G877G	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	955	Ser-rich.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		ATTCCAGTGGGAGTTCTTGGG	0.512																																						uc003iap.3		NA																	0				ovary(5)	5						c.(2863-2865)GGG>GGC		alpha-kinase 1							77.0	75.0	76.0					4																	113353568		2203	4300	6503	SO:0001819	synonymous_variant	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113353568G>C	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2865G>C	4.37:g.113353568G>C						ALPK1_uc003ian.3_Silent_p.G955G|ALPK1_uc011cfx.1_Silent_p.G877G|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Silent_p.G783G	p.G955G	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	11	3144	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	955			Ser-rich.		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Silent	SNP	ENST00000458497.1	37	c.2865G>C	CCDS3697.1																																																																																				0.512	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		13	68	0	0	0	0	13	68				
QRFPR	84109	broad.mit.edu	37	4	122257976	122257976	+	Missense_Mutation	SNP	C	C	T	rs375723469		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:122257976C>T	ENST00000394427.2	-	3	958	c.547G>A	c.(547-549)Gtg>Atg	p.V183M	QRFPR_ENST00000334383.5_Missense_Mutation_p.V183M	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	183					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						AGTTGTTGCACGTGCCACATG	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		19293	0.0		0.0	False		,,,				2504	0.001					uc010inj.1		NA																	0					0						c.(547-549)GTG>ATG		G protein-coupled receptor 103		C	MET/VAL	0,4406		0,0,2203	247.0	235.0	239.0		547	5.1	0.5	4		239	1,8599	1.2+/-3.3	0,1,4299	no	missense	QRFPR	NM_198179.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	183/432	122257976	1,13005	2203	4300	6503	SO:0001583	missense	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122257976C>T	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.547G>A	4.37:g.122257976C>T	ENSP00000377948:p.Val183Met					QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_Missense_Mutation_p.V183M	p.V183M	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN			3	926	-			183			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000394427.2	37	c.547G>A	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328750	0.81690	0.0	1.16E-4	ENSG00000186867	ENST00000394427;ENST00000334383	T;T	0.72167	-0.63;-0.63	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.056165	0.64402	D	0.000001	D	0.82568	0.5065	M	0.64170	1.965	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.987	T	0.82248	-0.0551	10	0.45353	T	0.12	.	18.902	0.92446	0.0:1.0:0.0:0.0	.	183;183	Q96P65;G4XH69	QRFPR_HUMAN;.	M	183	ENSP00000377948:V183M;ENSP00000335610:V183M	ENSP00000335610:V183M	V	-	1	0	QRFPR	122477426	1.000000	0.71417	0.456000	0.27044	0.991000	0.79684	5.094000	0.64523	2.511000	0.84671	0.585000	0.79938	GTG		0.423	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		97	223	0	0	0	0	97	223				
HSPA4L	22824	broad.mit.edu	37	4	128753927	128753927	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:128753927C>G	ENST00000296464.4	+	19	2829	c.2418C>G	c.(2416-2418)caC>caG	p.H806Q	HSPA4L_ENST00000439123.2_Missense_Mutation_p.H837Q|HSPA4L_ENST00000505726.1_Missense_Mutation_p.H780Q|HSPA4L_ENST00000508776.1_Missense_Mutation_p.H806Q	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	806				H -> R (in Ref. 1; BAA75063). {ECO:0000305}.	protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						ATAGTGAACACAATGGCCCAA	0.408																																						uc003ifm.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2416-2418)CAC>CAG		heat shock 70kDa protein 4-like							116.0	107.0	110.0					4																	128753927		2203	4300	6503	SO:0001583	missense	22824				protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding	g.chr4:128753927C>G	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.2418C>G	4.37:g.128753927C>G	ENSP00000296464:p.His806Gln					HSPA4L_uc011cgr.1_Missense_Mutation_p.H773Q	p.H806Q	NM_014278	NP_055093	O95757	HS74L_HUMAN			19	2671	+			806	H -> R (in Ref. 1; BAA75063).				A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	c.2418C>G	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.563133	0.00134	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000505726	T;T;T;T	0.01287	5.19;5.19;5.19;5.05	4.85	3.08	0.35506	.	0.114784	0.64402	D	0.000017	T	0.00815	0.0027	N	0.08118	0	0.46927	D	0.999257	B;B	0.22800	0.006;0.075	B;B	0.14023	0.008;0.01	T	0.48681	-0.9014	10	0.05721	T	0.95	.	10.9067	0.47084	0.0:0.7861:0.0:0.2139	.	780;806	E9PDE8;O95757	.;HS74L_HUMAN	Q	806;837;806;780	ENSP00000422482:H806Q;ENSP00000393926:H837Q;ENSP00000296464:H806Q;ENSP00000425645:H780Q	ENSP00000296464:H806Q	H	+	3	2	HSPA4L	128973377	0.993000	0.37304	1.000000	0.80357	0.065000	0.16274	0.261000	0.18442	1.282000	0.44496	0.650000	0.86243	CAC		0.408	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		12	61	0	0	0	0	12	61				
LRBA	987	broad.mit.edu	37	4	151388836	151388836	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:151388836C>T	ENST00000357115.3	-	45	7045	c.6802G>A	c.(6802-6804)Gat>Aat	p.D2268N	LRBA_ENST00000535741.1_Missense_Mutation_p.D2257N|LRBA_ENST00000507224.1_Missense_Mutation_p.D2257N|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Missense_Mutation_p.D2257N	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2268	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTGGACAAATCTCTGAAGTTG	0.313																																						uc010ipj.2		NA																	0				ovary(3)|breast(3)|skin(1)	7						c.(6802-6804)GAT>AAT		LPS-responsive vesicle trafficking, beach and							106.0	100.0	102.0					4																	151388836		2203	4299	6502	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151388836C>T	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6802G>A	4.37:g.151388836C>T	ENSP00000349629:p.Asp2268Asn					LRBA_uc010ipi.2_5'UTR|LRBA_uc003ils.3_Missense_Mutation_p.D158N|LRBA_uc003ilt.3_Missense_Mutation_p.D916N|LRBA_uc003ilu.3_Missense_Mutation_p.D2257N	p.D2268N	NM_006726	NP_006717	P50851	LRBA_HUMAN			45	7276	-	all_hematologic(180;0.151)		2268			BEACH.		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.6802G>A	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	33	5.235927	0.95240	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89	5.16	5.16	0.70880	BEACH domain (4);	0.094329	0.64402	N	0.000001	D	0.93232	0.7844	M	0.84585	2.705	0.80722	D	1	D;P;D	0.89917	0.998;0.807;1.0	D;P;D	0.91635	0.995;0.685;0.999	D	0.93424	0.6779	10	0.52906	T	0.07	.	19.0142	0.92888	0.0:1.0:0.0:0.0	.	2268;2257;158	P50851;P50851-2;Q68D03	LRBA_HUMAN;.;.	N	2257;2257;2268;2257	ENSP00000446299:D2257N;ENSP00000421552:D2257N;ENSP00000349629:D2268N;ENSP00000422180:D2257N	ENSP00000349629:D2268N	D	-	1	0	LRBA	151608286	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.758000	0.85224	2.549000	0.85964	0.585000	0.79938	GAT		0.313	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			8	54	0	0	0	0	8	54				
PALLD	23022	broad.mit.edu	37	4	169611844	169611844	+	Missense_Mutation	SNP	C	C	T	rs535947672		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:169611844C>T	ENST00000505667.1	+	7	1599	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W	PALLD_ENST00000333488.4_Missense_Mutation_p.R353W|PALLD_ENST00000512127.1_Missense_Mutation_p.R94W|PALLD_ENST00000335742.7_Missense_Mutation_p.R94W|PALLD_ENST00000261509.6_Missense_Mutation_p.R476W			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	476	Ig-like C2-type 2.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CCAGTGGTTTCGGCAAGGGAG	0.527									Pancreatic Cancer, Familial Clustering of				C|||	1	0.000199681	0.0	0.0	5008	,	,		15576	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(109;1482 1532 18347 40239 51172)	uc011cjx.1		NA																	0				ovary(1)	1						c.(1426-1428)CGG>TGG		palladin isoform 2							87.0	97.0	93.0					4																	169611844		2203	4300	6503	SO:0001583	missense	23022	Pancreatic_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169611844C>T	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1426C>T	4.37:g.169611844C>T	ENSP00000425556:p.Arg476Trp					PALLD_uc003iru.2_Missense_Mutation_p.R476W|PALLD_uc003irv.2_Missense_Mutation_p.R94W	p.R476W	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	7	1637	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	476			Ig-like C2-type 2.		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.1426C>T	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274497	0.80580	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000508898;ENST00000333488;ENST00000512127;ENST00000503457	T;T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.81	5.81	0.92471	.	0.000000	0.29389	U	0.012289	D	0.87892	0.6292	M	0.93594	3.435	0.48288	D	0.999622	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.997;1.0	D	0.90067	0.4160	10	0.66056	D	0.02	.	14.863	0.70394	0.1436:0.8564:0.0:0.0	.	476;94;476	B7ZMM5;B3KTG2;B2RTX2	.;.;.	W	476;94;476;455;353;94;94	ENSP00000261509:R476W;ENSP00000336735:R94W;ENSP00000425556:R476W;ENSP00000423063:R455W;ENSP00000328945:R353W;ENSP00000426947:R94W;ENSP00000424288:R94W	ENSP00000261509:R476W	R	+	1	2	PALLD	169848419	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	1.312000	0.33574	2.742000	0.94016	0.650000	0.86243	CGG		0.527	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		28	131	0	0	0	0	28	131				
ADAM29	11086	broad.mit.edu	37	4	175897744	175897744	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:175897744G>A	ENST00000359240.3	+	5	1738	c.1068G>A	c.(1066-1068)atG>atA	p.M356I	ADAM29_ENST00000404450.4_Missense_Mutation_p.M356I|ADAM29_ENST00000445694.1_Missense_Mutation_p.M356I|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.M356I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	356	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GATGCATAATGCATGAAGGCA	0.388																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2		NA																	0				skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(1066-1068)ATG>ATA		ADAM metallopeptidase domain 29 preproprotein							134.0	130.0	131.0					4																	175897744		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897744G>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1068G>A	4.37:g.175897744G>A	ENSP00000352177:p.Met356Ile					ADAM29_uc003iud.2_Missense_Mutation_p.M356I|ADAM29_uc010irr.2_Missense_Mutation_p.M356I|ADAM29_uc011cki.1_Missense_Mutation_p.M356I	p.M356I	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1738	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	356			Peptidase M12B.|Extracellular (Potential).		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.1068G>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289710	0.59976	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	3.6	3.6	0.41247	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.38548	U	0.001647	T	0.64994	0.2649	H	0.95294	3.65	0.26663	N	0.971871	D	0.76494	0.999	D	0.73708	0.981	T	0.64491	-0.6395	9	.	.	.	.	13.5137	0.61528	0.0:0.0:1.0:0.0	.	356	Q9UKF5	ADA29_HUMAN	I	356	ENSP00000352177:M356I;ENSP00000414544:M356I;ENSP00000384229:M356I;ENSP00000423517:M356I	.	M	+	3	0	ADAM29	176134319	0.999000	0.42202	0.279000	0.24732	0.046000	0.14306	3.282000	0.51693	2.303000	0.77524	0.579000	0.79373	ATG		0.388	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				19	107	0	0	0	0	19	107				
CCDC110	256309	broad.mit.edu	37	4	186382220	186382220	+	Missense_Mutation	SNP	G	G	A	rs376940059		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:186382220G>A	ENST00000307588.3	-	5	406	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	CCDC110_ENST00000393540.3_Intron|CCDC110_ENST00000510617.1_Missense_Mutation_p.R111C|CCDC110_ENST00000507501.1_5'UTR	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	111						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTTTCAATGCGCGTGCCAAAC	0.338																																						uc003ixu.3		NA																	0				central_nervous_system(1)	1						c.(331-333)CGC>TGC		coiled-coil domain containing 110 isoform a		G	,CYS/ARG	1,4403	2.1+/-5.4	0,1,2201	136.0	131.0	133.0		,331	0.2	0.0	4		133	0,8596		0,0,4298	no	intron,missense	CCDC110	NM_001145411.1,NM_152775.3	,180	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	,benign	,111/834	186382220	1,12999	2202	4298	6500	SO:0001583	missense	256309					nucleus		g.chr4:186382220G>A	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"""cancer/testis antigen 52"""	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.331C>T	4.37:g.186382220G>A	ENSP00000306776:p.Arg111Cys					CCDC110_uc003ixv.3_Intron|CCDC110_uc011ckt.1_Missense_Mutation_p.R111C	p.R111C	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	5	407	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)	111					Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.331C>T	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	G	9.190	1.025675	0.19512	2.27E-4	0.0	ENSG00000168491	ENST00000307588;ENST00000510617;ENST00000506876	T;T;T	0.45668	3.26;3.26;0.89	5.95	0.183	0.15082	.	0.491796	0.18486	N	0.139787	T	0.19167	0.0460	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.06405	0.002;0.001	T	0.13415	-1.0510	10	0.59425	D	0.04	2.0658	5.6362	0.17538	0.3409:0.0:0.5398:0.1193	.	111;111	B4DZA2;Q8TBZ0	.;CC110_HUMAN	C	111	ENSP00000306776:R111C;ENSP00000427246:R111C;ENSP00000425276:R111C	ENSP00000306776:R111C	R	-	1	0	CCDC110	186619214	0.007000	0.16637	0.000000	0.03702	0.005000	0.04900	0.324000	0.19610	-0.062000	0.13088	-0.839000	0.03059	CGC		0.338	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		20	95	0	0	0	0	20	95				
SORBS2	8470	broad.mit.edu	37	4	186545017	186545017	+	Missense_Mutation	SNP	C	C	G	rs375392374		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:186545017C>G	ENST00000284776.7	-	13	2063	c.1554G>C	c.(1552-1554)caG>caC	p.Q518H	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.Q422H|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.Q518H|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.Q618H|SORBS2_ENST00000437304.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	518					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATTTGGACTTCTGGATCAGCT	0.562																																					Esophageal Squamous(153;41 2433 9491 36028)	uc003iyl.2		NA																	0				ovary(1)	1						c.(1552-1554)CAG>CAC		sorbin and SH3 domain containing 2 isoform 2							105.0	93.0	97.0					4																	186545017		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186545017C>G		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1554G>C	4.37:g.186545017C>G	ENSP00000284776:p.Gln518His					SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.Q618H|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.Q422H|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.Q632H|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	p.Q518H	NM_021069	NP_066547	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	13	2412	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	518					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.1554G>C	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.051065	0.36181	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.48836	0.88;0.88;0.8;0.87	5.74	-4.73	0.03259	.	0.121727	0.56097	D	0.000036	T	0.55097	0.1899	M	0.66939	2.045	0.41354	D	0.987384	D;D;D	0.57899	0.981;0.976;0.981	P;P;P	0.55871	0.786;0.641;0.713	T	0.64449	-0.6405	10	0.87932	D	0	-26.3803	15.2631	0.73640	0.0:0.52:0.0:0.48	.	422;618;518	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	H	518;518;422;618	ENSP00000284776:Q518H;ENSP00000411764:Q518H;ENSP00000397482:Q422H;ENSP00000347852:Q618H	ENSP00000284776:Q518H	Q	-	3	2	SORBS2	186782011	0.617000	0.27043	0.915000	0.36163	0.245000	0.25701	-0.178000	0.09782	-0.856000	0.04120	-0.258000	0.10820	CAG		0.562	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		16	79	0	0	0	0	16	79				
MTRR	4552	broad.mit.edu	37	5	7885832	7885832	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr5:7885832C>T	ENST00000264668.2	+	7	1033	c.1003C>T	c.(1003-1005)Cag>Tag	p.Q335*	MTRR_ENST00000440940.2_Nonsense_Mutation_p.Q308*|MTRR_ENST00000341013.6_3'UTR	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	335	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CTTTTCCTATCAGCCTGGAGA	0.383																																						uc003jed.2		NA																	0				ovary(1)	1						c.(1003-1005)CAG>TAG		methionine synthase reductase isoform 2	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						93.0	94.0	94.0					5																	7885832		2203	4300	6503	SO:0001587	stop_gained	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7885832C>T	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.1003C>T	5.37:g.7885832C>T	ENSP00000264668:p.Gln335*					MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_Nonsense_Mutation_p.Q308*|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	p.Q335*	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN			7	1033	+			335			FAD-binding FR-type.		O60471|Q32MA9|Q7Z4M8	Nonsense_Mutation	SNP	ENST00000264668.2	37	c.1003C>T	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	C	39	7.597427	0.98381	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	.	.	.	5.83	4.94	0.65067	.	0.167530	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-18.1472	16.686	0.85306	0.0:0.8703:0.1297:0.0	.	.	.	.	X	335;308	.	ENSP00000264668:Q335X	Q	+	1	0	MTRR	7938832	0.986000	0.35501	0.928000	0.36995	0.960000	0.62799	2.573000	0.46007	1.413000	0.46997	0.650000	0.86243	CAG		0.383	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			10	84	0	0	0	0	10	84				
ANKHD1	54882	broad.mit.edu	37	5	139838838	139838838	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr5:139838838C>G	ENST00000360839.2	+	9	1724	c.1570C>G	c.(1570-1572)Ctt>Gtt	p.L524V	ANKHD1_ENST00000394722.3_Missense_Mutation_p.L513V|ANKHD1_ENST00000394723.3_Missense_Mutation_p.L524V|ANKHD1_ENST00000297183.6_Missense_Mutation_p.L524V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L524V	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	524						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGACTTTCTTATTAAGGC	0.443																																						uc003lfs.1		NA																	0				ovary(6)	6						c.(1570-1572)CTT>GTT		ANKHD1-EIF4EBP3 protein							86.0	89.0	88.0					5																	139838838		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139838838C>G	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.1570C>G	5.37:g.139838838C>G	ENSP00000354085:p.Leu524Val					ANKHD1_uc003lfq.1_Missense_Mutation_p.L524V|ANKHD1_uc003lfr.2_Missense_Mutation_p.L524V|ANKHD1_uc003lft.1_5'UTR|ANKHD1_uc003lfu.1_5'UTR|ANKHD1_uc003lfp.2_Missense_Mutation_p.L513V|ANKHD1_uc003lfo.2_Missense_Mutation_p.L524V|ANKHD1_uc010jfk.2_Missense_Mutation_p.L524V	p.L524V	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1694	+			524					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.1570C>G	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589866	0.66105	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000421134;ENST00000394723;ENST00000394722;ENST00000532219	D;D;T;T;T;D	0.90004	-2.6;-2.6;-1.27;-1.27;-1.27;-2.6	5.51	0.186	0.15105	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000001	D	0.95271	0.8466	H	0.96208	3.785	0.58432	D	0.999993	D;D;D;D;D	0.89917	0.999;0.999;0.997;1.0;1.0	D;D;D;D;D	0.83275	0.985;0.994;0.992;0.996;0.994	D	0.93509	0.6851	10	0.87932	D	0	.	9.82	0.40876	0.0:0.626:0.0:0.374	.	524;524;524;513;524	Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.;.;ANKH1_HUMAN;.;.	V	524;538;524;524;39;524;524;513;524	ENSP00000354085:L524V;ENSP00000297183:L524V;ENSP00000394489:L524V;ENSP00000378212:L524V;ENSP00000378211:L513V;ENSP00000432016:L524V	ENSP00000432016:L524V	L	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139819022	1.000000	0.71417	0.765000	0.31456	0.890000	0.51754	2.111000	0.41883	-0.279000	0.09167	-0.378000	0.06908	CTT		0.443	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		15	60	0	0	0	0	15	60				
PCDHB11	56125	broad.mit.edu	37	5	140580954	140580954	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr5:140580954G>A	ENST00000354757.3	+	1	1607	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H	PCDHB11_ENST00000536699.1_Missense_Mutation_p.R171H	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	536	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACAGACCGCGGCTCCCCG	0.667																																						uc003liy.2		NA																	0				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1606-1608)CGC>CAC		protocadherin beta 11 precursor							41.0	55.0	50.0					5																	140580954		2202	4299	6501	SO:0001583	missense	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140580954G>A	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1607G>A	5.37:g.140580954G>A	ENSP00000346802:p.Arg536His					PCDHB11_uc011daj.1_Missense_Mutation_p.R171H	p.R536H	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1607	+			536			Extracellular (Potential).|Cadherin 5.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.1607G>A	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	g	9.813	1.183609	0.21870	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.01745	4.66;4.66	2.51	1.58	0.23477	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01940	0.0061	N	0.25031	0.7	0.09310	N	1	B	0.23128	0.08	B	0.36464	0.225	T	0.49234	-0.8961	9	0.44086	T	0.13	.	5.4183	0.16386	0.1206:0.2089:0.6705:0.0	.	536	Q9Y5F2	PCDBB_HUMAN	H	171;536	ENSP00000440344:R171H;ENSP00000346802:R536H	ENSP00000346802:R536H	R	+	2	0	PCDHB11	140561138	0.000000	0.05858	0.003000	0.11579	0.068000	0.16541	-0.637000	0.05459	0.360000	0.24265	0.298000	0.19748	CGC		0.667	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		48	88	0	0	0	0	48	88				
PCDHB12	56124	broad.mit.edu	37	5	140589638	140589638	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr5:140589638G>A	ENST00000239450.2	+	1	1348	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	PCDHB12_ENST00000541609.1_Missense_Mutation_p.E50K	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	387	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTATCCCGGAGGACATCCC	0.468																																						uc003liz.2		NA																	0				skin(2)|ovary(1)	3						c.(1159-1161)GAG>AAG		protocadherin beta 12 precursor							68.0	67.0	67.0					5																	140589638		2203	4300	6503	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589638G>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1159G>A	5.37:g.140589638G>A	ENSP00000239450:p.Glu387Lys					PCDHB12_uc011dak.1_Missense_Mutation_p.E50K	p.E387K	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1348	+			387			Extracellular (Potential).|Cadherin 4.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1159G>A	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	6.462	0.453413	0.12283	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.38401	1.14;1.14	4.06	3.16	0.36331	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.39332	0.1074	L	0.46741	1.465	0.09310	N	1	P	0.45768	0.866	P	0.49140	0.601	T	0.17349	-1.0372	9	0.66056	D	0.02	.	8.9658	0.35877	0.1815:0.0:0.8185:0.0	.	387	Q9Y5F1	PCDBC_HUMAN	K	50;387;7	ENSP00000440199:E50K;ENSP00000239450:E387K	ENSP00000239450:E387K	E	+	1	0	PCDHB12	140569822	0.000000	0.05858	0.045000	0.18777	0.030000	0.12068	0.393000	0.20817	1.969000	0.57287	0.491000	0.48974	GAG		0.468	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		12	45	0	0	0	0	12	45				
PCDHB12	56124	broad.mit.edu	37	5	140589962	140589962	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr5:140589962G>A	ENST00000239450.2	+	1	1672	c.1483G>A	c.(1483-1485)Gac>Aac	p.D495N	PCDHB12_ENST00000541609.1_Missense_Mutation_p.D158N	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	495	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCGTCCCAGGACCCGCACCT	0.662																																						uc003liz.2		NA																	0				skin(2)|ovary(1)	3						c.(1483-1485)GAC>AAC		protocadherin beta 12 precursor							85.0	84.0	85.0					5																	140589962		2203	4300	6503	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589962G>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1483G>A	5.37:g.140589962G>A	ENSP00000239450:p.Asp495Asn					PCDHB12_uc011dak.1_Missense_Mutation_p.D158N	p.D495N	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1672	+			495			Extracellular (Potential).|Cadherin 5.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1483G>A	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	6.368	0.435937	0.12104	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.01804	4.63;4.63	3.47	2.55	0.30701	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02380	0.0073	L	0.31294	0.92	0.09310	N	1	P	0.35944	0.529	P	0.46585	0.521	T	0.49123	-0.8972	9	0.35671	T	0.21	.	3.3455	0.07133	0.2319:0.0:0.5386:0.2296	.	495	Q9Y5F1	PCDBC_HUMAN	N	158;495;115	ENSP00000440199:D158N;ENSP00000239450:D495N	ENSP00000239450:D495N	D	+	1	0	PCDHB12	140570146	0.000000	0.05858	0.084000	0.20598	0.741000	0.42261	-0.454000	0.06770	1.664000	0.50801	0.485000	0.47835	GAC		0.662	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		22	159	0	0	0	0	22	159				
EBF1	1879	broad.mit.edu	37	5	158524010	158524010	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr5:158524010G>T	ENST00000313708.6	-	2	545	c.263C>A	c.(262-264)gCg>gAg	p.A88E	EBF1_ENST00000517373.1_Missense_Mutation_p.A88E|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.A88E	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	88					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|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)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCCACAAACGCTGTCCTCTC	0.637			T	HMGA2	lipoma																																	uc010jip.2		NA		Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(262-264)GCG>GAG		early B-cell factor							61.0	50.0	54.0					5																	158524010		2203	4300	6503	SO:0001583	missense	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158524010G>T	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.263C>A	5.37:g.158524010G>T	ENSP00000322898:p.Ala88Glu					EBF1_uc011ddw.1_5'Flank|EBF1_uc011ddx.1_Missense_Mutation_p.A88E|EBF1_uc003lxl.3_Missense_Mutation_p.A88E	p.A88E	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	565	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	88					Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	c.263C>A	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318179	0.60524	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.49432	0.78;0.8;0.83	5.64	5.64	0.86602	.	0.192980	0.46145	D	0.000306	T	0.60025	0.2237	M	0.78637	2.42	0.44660	D	0.997648	B;B;B	0.25441	0.067;0.126;0.093	B;B;B	0.36289	0.059;0.221;0.214	T	0.61372	-0.7076	10	0.72032	D	0.01	-6.7825	19.6909	0.96000	0.0:0.0:1.0:0.0	.	88;88;88	A8K0Z7;Q9UH73;Q9UH73-2	.;COE1_HUMAN;.	E	88	ENSP00000322898:A88E;ENSP00000370029:A88E;ENSP00000428020:A88E	ENSP00000322898:A88E	A	-	2	0	EBF1	158456588	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.751000	0.55165	2.643000	0.89663	0.561000	0.74099	GCG		0.637	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		12	23	1	0	1.62e-10	3.02e-10	12	23				
GABRB2	2561	broad.mit.edu	37	5	160973365	160973365	+	Silent	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr5:160973365C>G	ENST00000393959.1	-	2	131	c.132G>C	c.(130-132)ctG>ctC	p.L44L	GABRB2_ENST00000523730.1_5'Flank|GABRB2_ENST00000520240.1_Silent_p.L44L|GABRB2_ENST00000517901.1_Intron|GABRB2_ENST00000274547.2_Silent_p.L44L|GABRB2_ENST00000353437.6_Silent_p.L44L|GABRB2_ENST00000517547.1_Intron			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	44					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CATAGCCTTTCAGGAGTCTAT	0.453																																						uc003lys.1		NA																	0					0						c.(130-132)CTG>CTC		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						95.0	89.0	91.0					5																	160973365		2203	4300	6503	SO:0001819	synonymous_variant	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160973365C>G		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.132G>C	5.37:g.160973365C>G						GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Silent_p.L44L|GABRB2_uc003lyt.1_Silent_p.L44L|GABRB2_uc010jiu.1_Intron|GABRB2_uc011dei.1_Silent_p.L44L	p.L44L	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		3	350	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	44			Extracellular (Probable).		A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Silent	SNP	ENST00000393959.1	37	c.132G>C	CCDS4355.1																																																																																				0.453	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			6	35	0	0	0	0	6	35				
GABRG2	2566	broad.mit.edu	37	5	161531032	161531032	+	Splice_Site	SNP	G	G	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr5:161531032G>T	ENST00000361925.4	+	6	989	c.769G>T	c.(769-771)Gga>Tga	p.G257*	GABRG2_ENST00000414552.2_Splice_Site_p.G297*|GABRG2_ENST00000356592.3_Splice_Site_p.G257*|GABRG2_ENST00000393933.4_Splice_Site_p.G162*			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	257					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GACAACTTCCGGTAAGATGCA	0.383																																						uc003lyz.3		NA																	0				ovary(4)|skin(1)	5						c.(769-771)GGA>TGA		gamma-aminobutyric acid A receptor, gamma 2							69.0	67.0	68.0					5																	161531032		2203	4300	6503	SO:0001630	splice_region_variant	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161531032G>T		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.769+1G>T	5.37:g.161531032G>T						GABRG2_uc010jjc.2_Nonsense_Mutation_p.G297*|GABRG2_uc003lyy.3_Nonsense_Mutation_p.G257*|GABRG2_uc011dej.1_Nonsense_Mutation_p.G162*	p.G257*	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	6	1127	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	257			Extracellular (Probable).		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Nonsense_Mutation	SNP	ENST00000361925.4	37	c.769G>T	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	G	39	7.653537	0.98412	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	.	.	.	5.39	5.39	0.77823	.	0.098346	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7444	0.91787	0.0:0.0:1.0:0.0	.	.	.	.	X	257;297;257;162;162	.	ENSP00000349000:G257X	G	+	1	0	GABRG2	161463610	1.000000	0.71417	1.000000	0.80357	0.410000	0.31052	9.751000	0.98889	2.533000	0.85409	0.655000	0.94253	GGA		0.383	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		Nonsense_Mutation	16	34	1	0	2.58e-16	4.94e-16	16	34				
DDX41	51428	broad.mit.edu	37	5	176943153	176943153	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr5:176943153C>A	ENST00000507955.1	-	4	863	c.340G>T	c.(340-342)Gag>Tag	p.E114*	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	114					apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			AGGATCTTCTCTTCTTCCTTC	0.522																																						uc003mho.2		NA																	0					0						c.(340-342)GAG>TAG		DEAD-box protein abstrakt							194.0	195.0	195.0					5																	176943153		2203	4300	6503	SO:0001587	stop_gained	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176943153C>A	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.340G>T	5.37:g.176943153C>A	ENSP00000422753:p.Glu114*					DDX41_uc003mhm.2_5'Flank|DDX41_uc003mhn.2_5'UTR|DDX41_uc003mhp.2_5'UTR|DDX41_uc003mhq.1_5'UTR	p.E114*	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		4	361	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	114					B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Nonsense_Mutation	SNP	ENST00000507955.1	37	c.340G>T	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	C	37	6.204254	0.97376	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	.	.	.	5.47	5.47	0.80525	.	0.058404	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-34.8311	19.3222	0.94246	0.0:1.0:0.0:0.0	.	.	.	.	X	132;114	.	ENSP00000330349:E132X	E	-	1	0	DDX41	176875759	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.317000	0.79018	2.560000	0.86352	0.561000	0.74099	GAG		0.522	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		39	205	1	0	6.46e-13	1.21e-12	39	205				
ZFP2	80108	broad.mit.edu	37	5	178358852	178358852	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr5:178358852C>A	ENST00000361362.2	+	5	1068	c.538C>A	c.(538-540)Cac>Aac	p.H180N	ZFP2_ENST00000523286.1_Missense_Mutation_p.H180N|ZFP2_ENST00000520301.1_Missense_Mutation_p.H180N|ZFP2_ENST00000503510.2_Missense_Mutation_p.H180N	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	180					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)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TCAACGAACTCACACCGGAGA	0.398																																						uc003mjn.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(538-540)CAC>AAC		zinc finger protein 2 homolog							52.0	51.0	51.0					5																	178358852		2203	4300	6503	SO:0001583	missense	80108				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178358852C>A	AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"""Zinc fingers, C2H2-type"""	26138	protein-coding gene	gene with protein product			"""zinc finger protein 2 homolog (mouse)"""				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.538C>A	5.37:g.178358852C>A	ENSP00000354453:p.His180Asn					ZFP2_uc010jky.2_Missense_Mutation_p.H180N|ZFP2_uc010jkx.1_Missense_Mutation_p.H180N	p.H180N	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)	5	1047	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	180			C2H2-type 3.		A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	ENST00000361362.2	37	c.538C>A	CCDS4440.1	.	.	.	.	.	.	.	.	.	.	c	14.73	2.621722	0.46736	.	.	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	4.7	4.7	0.59300	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33217	N	0.005156	D	0.83519	0.5272	M	0.87682	2.9	0.45150	D	0.998164	D	0.76494	0.999	D	0.91635	0.999	D	0.86707	0.1933	10	0.87932	D	0	-8.9404	15.1771	0.72920	0.0:1.0:0.0:0.0	.	180	Q6ZN57	ZFP2_HUMAN	N	180	ENSP00000354453:H180N;ENSP00000430980:H180N;ENSP00000430531:H180N;ENSP00000438114:H180N	ENSP00000354453:H180N	H	+	1	0	ZFP2	178291458	1.000000	0.71417	0.998000	0.56505	0.223000	0.24884	7.492000	0.81482	2.421000	0.82119	0.585000	0.79938	CAC		0.398	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2	NM_030613		8	37	1	0	1.13e-05	2.03e-05	8	37				
EHMT2	10919	broad.mit.edu	37	6	31860266	31860266	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr6:31860266T>C	ENST00000375537.4	-	7	788	c.782A>G	c.(781-783)gAg>gGg	p.E261G	EHMT2_ENST00000375528.4_Missense_Mutation_p.E318G|EHMT2_ENST00000375530.4_Missense_Mutation_p.E261G|EHMT2_ENST00000395728.3_Missense_Mutation_p.E318G|EHMT2_ENST00000480912.1_5'UTR	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	261					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CGTCTCCCACTCCTCCAGGGA	0.547																																						uc003nxz.1		NA																	0				ovary(1)	1						c.(781-783)GAG>GGG		euchromatic histone-lysine N-methyltransferase 2							77.0	64.0	69.0					6																	31860266		1510	2708	4218	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31860266T>C	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.782A>G	6.37:g.31860266T>C	ENSP00000364687:p.Glu261Gly					EHMT2_uc003nxy.1_Missense_Mutation_p.E52G|EHMT2_uc011don.1_Missense_Mutation_p.E318G|EHMT2_uc003nya.1_Missense_Mutation_p.E261G	p.E261G	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN			7	792	-			261					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.782A>G	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.458786	0.63401	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.73363	-0.63;-0.74;-0.68;-0.61	5.21	5.21	0.72293	.	0.118916	0.38111	N	0.001815	T	0.41328	0.1154	N	0.08118	0	0.38020	D	0.934823	P;P;P;B	0.40731	0.608;0.728;0.608;0.155	B;B;B;B	0.36186	0.156;0.219;0.109;0.034	T	0.59852	-0.7376	10	0.87932	D	0	.	12.6883	0.56960	0.0:0.0:0.0:1.0	.	318;261;261;75	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	G	318;318;261;261;75	ENSP00000379078:E318G;ENSP00000364678:E318G;ENSP00000364680:E261G;ENSP00000364687:E261G	ENSP00000364678:E318G	E	-	2	0	EHMT2	31968245	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.428000	0.59894	2.188000	0.69820	0.482000	0.46254	GAG		0.547	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		15	61	0	0	0	0	15	61				
PSMB8	5696	broad.mit.edu	37	6	32808747	32808747	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr6:32808747C>A	ENST00000374882.3	-	6	870	c.820G>T	c.(820-822)Gcc>Tcc	p.A274S	PSMB8_ENST00000374881.2_Missense_Mutation_p.A270S|PSMB8_ENST00000395339.3_Missense_Mutation_p.A250S|TAP2_ENST00000374899.4_5'Flank|TAP2_ENST00000452392.2_5'Flank|TAP2_ENST00000374897.2_5'Flank	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	274					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)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	TATTGATTGGCTTCCCGGTAC	0.512																																					NSCLC(48;53 1172 10859 13624 22883)	uc003oce.2		NA																	0				skin(1)	1						c.(820-822)GCC>TCC		proteasome beta 8 subunit isoform E2 proprotein							146.0	120.0	128.0					6																	32808747		2203	4300	6503	SO:0001583	missense	5696				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|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	g.chr6:32808747C>A		CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"""Proteasome (prosome, macropain) subunits"""	9545	protein-coding gene	gene with protein product		177046	"""proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)"", ""large multifunctional peptidase 7"""	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285	ENST00000374882.3:c.820G>T	6.37:g.32808747C>A	ENSP00000364016:p.Ala274Ser					TAP2_uc011dqf.1_5'Flank|TAP2_uc003ocb.1_5'Flank|TAP2_uc003occ.2_5'Flank|TAP2_uc003ocd.2_5'Flank|PSMB8_uc003ocf.2_Missense_Mutation_p.A270S	p.A274S	NM_148919	NP_683720	P28062	PSB8_HUMAN			6	863	-			274					B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Missense_Mutation	SNP	ENST00000374882.3	37	c.820G>T	CCDS4757.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536019	0.27475	.	.	ENSG00000204264	ENST00000395339;ENST00000374882;ENST00000374881	T;T;T	0.37915	1.17;1.77;1.75	5.45	1.87	0.25490	.	0.341934	0.33591	N	0.004759	T	0.12817	0.0311	L	0.37630	1.12	0.25024	N	0.991317	B;B	0.27192	0.171;0.035	B;B	0.31101	0.124;0.025	T	0.18587	-1.0332	10	0.45353	T	0.12	-9.1723	10.1248	0.42643	0.0:0.7141:0.0:0.2859	.	270;274	P28062-2;P28062	.;PSB8_HUMAN	S	250;274;270	ENSP00000378748:A250S;ENSP00000364016:A274S;ENSP00000364015:A270S	ENSP00000364015:A270S	A	-	1	0	PSMB8	32916725	0.000000	0.05858	0.954000	0.39281	0.114000	0.19823	0.987000	0.29603	0.542000	0.28846	0.643000	0.83706	GCC		0.512	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076617.3	NM_148919		16	46	1	0	2.23e-06	4.05e-06	16	46				
PHF3	23469	broad.mit.edu	37	6	64423243	64423243	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr6:64423243G>A	ENST00000262043.3	+	16	6099	c.5759G>A	c.(5758-5760)cGc>cAc	p.R1920H	PHF3_ENST00000393387.1_Missense_Mutation_p.R1920H			Q92576	PHF3_HUMAN	PHD finger protein 3	1920					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAAGGGGACCGCCAGAGATTT	0.473																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(5758-5760)CGC>CAC		PHD finger protein 3							93.0	100.0	98.0					6																	64423243		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64423243G>A	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.5759G>A	6.37:g.64423243G>A	ENSP00000262043:p.Arg1920His					PHF3_uc003pen.2_Missense_Mutation_p.R1832H|PHF3_uc011dxs.1_Missense_Mutation_p.R1189H	p.R1920H	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		15	5785	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1920					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.5759G>A	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035846	0.35893	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	T;T	0.29142	1.58;1.58	5.97	4.17	0.49024	.	0.000000	0.39475	N	0.001342	T	0.16642	0.0400	L	0.32530	0.975	0.47862	D	0.999535	D	0.56521	0.976	P	0.47744	0.556	T	0.01679	-1.1297	9	.	.	.	-1.767	12.4356	0.55598	0.0644:0.1177:0.8179:0.0	.	1920	Q92576	PHF3_HUMAN	H	1920	ENSP00000262043:R1920H;ENSP00000377048:R1920H	.	R	+	2	0	PHF3	64481202	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.451000	0.52964	1.525000	0.49052	0.655000	0.94253	CGC		0.473	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			47	81	0	0	0	0	47	81				
MANEA	79694	broad.mit.edu	37	6	96052716	96052716	+	Missense_Mutation	SNP	T	T	G	rs560026341		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr6:96052716T>G	ENST00000358812.4	+	4	802	c.668T>G	c.(667-669)aTa>aGa	p.I223R	MANEA_ENST00000474553.1_3'UTR	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	223	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		ACTTTTCACATAGAACCATAT	0.224													T|||	1	0.000199681	0.0	0.0	5008	,	,		12739	0.0		0.001	False		,,,				2504	0.0					uc003poo.1		NA																	0				ovary(2)|breast(1)	3						c.(667-669)ATA>AGA		mannosidase, endo-alpha							28.0	29.0	29.0					6																	96052716		2151	4203	6354	SO:0001583	missense	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96052716T>G	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.668T>G	6.37:g.96052716T>G	ENSP00000351669:p.Ile223Arg						p.I223R	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	4	808	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	223			Catalytic (Probable).|Lumenal (Potential).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	c.668T>G	CCDS5032.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.429516	0.83776	.	.	ENSG00000172469	ENST00000358812	D	0.93906	-3.31	5.98	5.98	0.97165	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96506	0.8860	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.96174	0.9125	10	0.44086	T	0.13	-23.0323	15.6378	0.76970	0.0:0.0:0.0:1.0	.	223	Q5SRI9	MANEA_HUMAN	R	223	ENSP00000351669:I223R	ENSP00000351669:I223R	I	+	2	0	MANEA	96159437	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.599000	0.82757	2.293000	0.77203	0.477000	0.44152	ATA		0.224	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		3	15	0	0	0	0	3	15				
FIG4	9896	broad.mit.edu	37	6	110112620	110112620	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr6:110112620C>T	ENST00000230124.3	+	20	2346	c.2222C>T	c.(2221-2223)aCg>aTg	p.T741M	FIG4_ENST00000441478.2_Missense_Mutation_p.T464M	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	741					cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		CAGCGGAAAACGGCAGCCAGC	0.507																																						uc003ptt.2		NA																	0				ovary(1)	1						c.(2221-2223)ACG>ATG		Sac domain-containing inositol phosphatase 3							62.0	74.0	70.0					6																	110112620		2203	4299	6502	SO:0001583	missense	9896				cell death	endosome membrane	protein binding	g.chr6:110112620C>T	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.2222C>T	6.37:g.110112620C>T	ENSP00000230124:p.Thr741Met					FIG4_uc011eau.1_Missense_Mutation_p.T464M	p.T741M	NM_014845	NP_055660	Q92562	FIG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	20	2437	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)	741					Q53H49|Q5TCS6	Missense_Mutation	SNP	ENST00000230124.3	37	c.2222C>T	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742034	0.89573	.	.	ENSG00000112367	ENST00000441478;ENST00000230124;ENST00000419951	T;T	0.53857	1.85;0.6	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.56411	0.1983	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.87578	0.998;0.904	T	0.58165	-0.7684	10	0.51188	T	0.08	-19.3673	19.9832	0.97338	0.0:1.0:0.0:0.0	.	464;741	F5H8L9;Q92562	.;FIG4_HUMAN	M	464;741;48	ENSP00000399443:T464M;ENSP00000230124:T741M	ENSP00000230124:T741M	T	+	2	0	FIG4	110219313	1.000000	0.71417	0.478000	0.27316	0.908000	0.53690	7.487000	0.81328	2.722000	0.93159	0.655000	0.94253	ACG		0.507	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		14	127	0	0	0	0	14	127				
LAMA2	3908	broad.mit.edu	37	6	129470160	129470160	+	Missense_Mutation	SNP	G	G	A	rs141340479	byFrequency	TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr6:129470160G>A	ENST00000421865.2	+	7	995	c.946G>A	c.(946-948)Gat>Aat	p.D316N		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	316	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)	p.D316Y(1)		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)		CACATGTGGCGATAGCTGTGA	0.428													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18990	0.0		0.0	False		,,,				2504	0.0					uc003qbn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(946-948)GAT>AAT		laminin alpha 2 subunit isoform a precursor		G	ASN/ASP,ASN/ASP	13,4393	20.2+/-43.8	0,13,2190	130.0	127.0	128.0		946,946	5.9	0.2	6	dbSNP_134	128	1,8597	1.2+/-3.3	0,1,4298	yes	missense,missense	LAMA2	NM_000426.3,NM_001079823.1	23,23	0,14,6488	AA,AG,GG		0.0116,0.2951,0.1077	benign,benign	316/3123,316/3119	129470160	14,12990	2203	4299	6502	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.chr6:129470160G>A	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.946G>A	6.37:g.129470160G>A	ENSP00000400365:p.Asp316Asn					LAMA2_uc003qbo.2_Missense_Mutation_p.D316N	p.D316N	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	7	1051	+			316			Laminin EGF-like 1.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.946G>A	CCDS5138.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	24.2	4.505061	0.85282	0.002951	1.16E-4	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.63255	-0.03	5.92	5.92	0.95590	EGF-like, laminin (4);	0.285379	0.34959	N	0.003556	T	0.52500	0.1738	L	0.52011	1.625	0.37460	D	0.915172	P;P	0.51933	0.949;0.852	B;B	0.42798	0.397;0.398	T	0.57015	-0.7883	10	0.45353	T	0.12	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	316;316	A6NF00;P24043	.;LAMA2_HUMAN	N	316	ENSP00000400365:D316N	ENSP00000346769:D316N	D	+	1	0	LAMA2	129511853	1.000000	0.71417	0.193000	0.23327	0.874000	0.50279	5.335000	0.65929	2.809000	0.96659	0.655000	0.94253	GAT		0.428	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			16	91	0	0	0	0	16	91				
HOXA1	3198	broad.mit.edu	37	7	27134145	27134145	+	Missense_Mutation	SNP	C	C	T	rs41311760		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr7:27134145C>T	ENST00000343060.4	-	2	983	c.922G>A	c.(922-924)Gag>Aag	p.E308K	HOXA1_ENST00000355633.5_3'UTR|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000425358.2_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	308					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAGGATTCCTCGGCCTTCTCG	0.597																																						uc003sye.2		NA																	0				ovary(3)	3						c.(922-924)GAG>AAG		homeobox A1 isoform a							77.0	70.0	72.0					7																	27134145		2203	4300	6503	SO:0001583	missense	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27134145C>T		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.922G>A	7.37:g.27134145C>T	ENSP00000343246:p.Glu308Lys					HOXA1_uc003syd.2_3'UTR|uc003syg.2_5'Flank	p.E308K	NM_005522	NP_005513	P49639	HXA1_HUMAN			2	1016	-			308					A4D184|B2R8U7|O43363	Missense_Mutation	SNP	ENST00000343060.4	37	c.922G>A	CCDS5401.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534053	0.85812	.	.	ENSG00000105991	ENST00000343060	D	0.90676	-2.71	5.31	5.31	0.75309	.	0.153052	0.56097	D	0.000027	D	0.88919	0.6568	L	0.56769	1.78	0.80722	D	1	D	0.53619	0.961	B	0.41946	0.371	D	0.87234	0.2262	10	0.21014	T	0.42	.	18.98	0.92752	0.0:1.0:0.0:0.0	.	308	P49639	HXA1_HUMAN	K	308	ENSP00000343246:E308K	ENSP00000343246:E308K	E	-	1	0	HOXA1	27100670	1.000000	0.71417	0.939000	0.37840	0.805000	0.45488	6.029000	0.70895	2.495000	0.84180	0.655000	0.94253	GAG		0.597	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			11	47	0	0	0	0	11	47				
TRGC1	6966	broad.mit.edu	37	7	38305106	38305106	+	RNA	SNP	C	C	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr7:38305106C>A	ENST00000443402.2	-	0	173					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											GTGTTCCCCTCCTGGGATCCC	0.418																																						uc003tge.1		NA																	0					0						c.(601-603)GAG>TAG		Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds.							166.0	167.0	167.0					7																	38305106		1818	4076	5894			445347							g.chr7:38305106C>A	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38305106C>A						uc003tfz.1_Intron|TARP_uc003tgb.2_5'UTR|TARP_uc003tgc.1_5'UTR|TARP_uc003tgd.1_5'UTR|TARP_uc010kxi.1_RNA|TARP_uc003tgf.1_RNA|TARP_uc003tgj.1_RNA|TARP_uc003tgh.1_RNA|TARP_uc003tgi.1_RNA|TARP_uc003tgg.1_RNA	p.E201*			A2JGV3	A2JGV3_HUMAN			5	978	-			Error:Variant_position_missing_in_A2JGV3_after_alignment						Nonsense_Mutation	SNP	ENST00000443402.2	37	c.601G>T																																																																																					0.418	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		41	143	1	0	2.48e-24	4.79e-24	41	143				
BLVRA	644	broad.mit.edu	37	7	43843400	43843400	+	Missense_Mutation	SNP	G	G	C	rs371055504		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr7:43843400G>C	ENST00000402924.1	+	8	749	c.586G>C	c.(586-588)Gat>Cat	p.D196H	BLVRA_ENST00000265523.4_Missense_Mutation_p.D196H	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	196					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						GCGAAAGGAAGATCAGTATAT	0.478																																						uc003tir.2		NA																	0				ovary(1)	1						c.(586-588)GAT>CAT		biliverdin reductase A precursor	NADH(DB00157)						135.0	137.0	136.0					7																	43843400		2203	4300	6503	SO:0001583	missense	644				heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding	g.chr7:43843400G>C	BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.586G>C	7.37:g.43843400G>C	ENSP00000385757:p.Asp196His					BLVRA_uc010kxv.2_Missense_Mutation_p.D196H	p.D196H	NM_000712	NP_000703	P53004	BIEA_HUMAN			7	669	+			196					A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Missense_Mutation	SNP	ENST00000402924.1	37	c.586G>C	CCDS5472.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944604	0.53079	.	.	ENSG00000106605	ENST00000265523;ENST00000402924	T;T	0.24538	1.85;1.85	4.75	2.51	0.30379	Biliverdin reductase, catalytic (2);	0.481911	0.24544	N	0.037608	T	0.23611	0.0571	L	0.44542	1.39	0.31108	N	0.710326	B	0.34241	0.444	B	0.41917	0.37	T	0.17077	-1.0381	10	0.54805	T	0.06	.	5.1389	0.14948	0.3007:0.0:0.6993:0.0	.	196	P53004	BIEA_HUMAN	H	196	ENSP00000265523:D196H;ENSP00000385757:D196H	ENSP00000265523:D196H	D	+	1	0	BLVRA	43809925	0.851000	0.29673	0.906000	0.35671	0.992000	0.81027	1.055000	0.30467	1.117000	0.41842	0.561000	0.74099	GAT		0.478	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	NM_000712		28	145	0	0	0	0	28	145				
EGFR	1956	broad.mit.edu	37	7	55233026	55233026	+	Silent	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr7:55233026C>T	ENST00000275493.2	+	15	1953	c.1776C>T	c.(1774-1776)gtC>gtT	p.V592V	EGFR_ENST00000454757.2_Silent_p.V539V|EGFR_ENST00000455089.1_Silent_p.V547V|EGFR_ENST00000342916.3_Silent_p.V592V|EGFR_ENST00000344576.2_Silent_p.V592V|EGFR_ENST00000442591.1_Silent_p.V592V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	592					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CCCACTGCGTCAAGACCTGCC	0.547		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0				lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(1774-1776)GTC>GTT		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						92.0	80.0	84.0					7																	55233026		2203	4300	6503	SO:0001819	synonymous_variant	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233026C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1776C>T	7.37:g.55233026C>T		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.2_Silent_p.V592V|EGFR_uc003tqj.2_Silent_p.V592V|EGFR_uc010kzg.1_Silent_p.V547V|EGFR_uc011kco.1_Silent_p.V539V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	p.V592V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		15	2022	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		592			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.1776C>T	CCDS5514.1																																																																																				0.547	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		23	607	0	0	0	0	23	607				
SBDS	51119	broad.mit.edu	37	7	66456261	66456261	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr7:66456261C>G	ENST00000246868.2	-	4	670	c.487G>C	c.(487-489)Gag>Cag	p.E163Q		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	163					bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						TTCATTTTCTCTTTTAACTGC	0.368			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome																													uc003tvm.1		NA	yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Gene Conversion	Shwachman-Bodian-Diamond syndrome protein			L		AML|MDS			0				ovary(1)	1						c.(487-489)GAG>CAG		Shwachman-Bodian-Diamond syndrome protein							74.0	67.0	69.0					7																	66456261		2203	4300	6503	SO:0001583	missense	51119	Shwachman-Diamond_syndrome	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding	g.chr7:66456261C>G	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.487G>C	7.37:g.66456261C>G	ENSP00000246868:p.Glu163Gln						p.E163Q	NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN			4	671	-			163					A8K0P4|Q96FX0|Q9NV53	Missense_Mutation	SNP	ENST00000246868.2	37	c.487G>C	CCDS5537.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450452	0.63290	.	.	ENSG00000126524	ENST00000246868	D	0.96073	-3.9	5.04	5.04	0.67666	Ribosome maturation protein SBDS, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93539	0.7938	L	0.41573	1.285	0.80722	D	1	B	0.31859	0.343	B	0.41510	0.359	D	0.90653	0.4584	10	0.13853	T	0.58	-39.5301	15.9306	0.79656	0.0:1.0:0.0:0.0	.	163	Q9Y3A5	SBDS_HUMAN	Q	163	ENSP00000246868:E163Q	ENSP00000246868:E163Q	E	-	1	0	SBDS	66093696	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	5.273000	0.65564	2.641000	0.89580	0.555000	0.69702	GAG		0.368	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251746.2	NM_016038		8	26	0	0	0	0	8	26				
NSUN5	55695	broad.mit.edu	37	7	72717906	72717906	+	Silent	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr7:72717906G>A	ENST00000252594.6	-	8	1077	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	NSUN5_ENST00000428206.1_Silent_p.L316L|NSUN5_ENST00000438747.2_Silent_p.L354L|NSUN5_ENST00000310326.8_Silent_p.L354L			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	354					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TGGAGTAGACGAGCCGCTGCA	0.677																																						uc003txw.2		NA																	0					0						c.(1060-1062)CTC>CTT		NOL1/NOP2/Sun domain family, member 5 isoform 2							32.0	35.0	34.0					7																	72717906		2203	4300	6503	SO:0001819	synonymous_variant	55695						methyltransferase activity	g.chr7:72717906G>A	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"""NOP2/Sun domain containing"""	16385	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 5A"""	615732	"""Williams Beuren syndrome chromosome region 20A"", ""NOL1/NOP2/Sun domain family, member 5"""	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.1062C>T	7.37:g.72717906G>A						FKBP6_uc003twz.2_Intron|NSUN5_uc003txv.2_Silent_p.L354L|NSUN5_uc003txx.2_Silent_p.L316L|NSUN5_uc011kev.1_Silent_p.L354L	p.L354L	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN			8	1098	-		Lung NSC(55;0.163)	354					B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Silent	SNP	ENST00000252594.6	37	c.1062C>T	CCDS5547.1																																																																																				0.677	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956		7	19	0	0	0	0	7	19				
HIP1	3092	broad.mit.edu	37	7	75172176	75172176	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr7:75172176C>A	ENST00000336926.6	-	28	2910	c.2884G>T	c.(2884-2886)Gag>Tag	p.E962*	HIP1_ENST00000434438.2_Nonsense_Mutation_p.E911*	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	962	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTACCTGTCTCTTCGATCTGT	0.572			T	PDGFRB	CMML																																	uc003uds.1		NA		Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						c.(2884-2886)GAG>TAG		huntingtin interacting protein 1							86.0	84.0	85.0					7																	75172176		2203	4300	6503	SO:0001587	stop_gained	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75172176C>A	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2884G>T	7.37:g.75172176C>A	ENSP00000336747:p.Glu962*					HIP1_uc011kfz.1_Nonsense_Mutation_p.E788*	p.E962*	NM_005338	NP_005329	O00291	HIP1_HUMAN			28	2925	-			962			I/LWEQ.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Nonsense_Mutation	SNP	ENST00000336926.6	37	c.2884G>T	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	C	39	7.644945	0.98409	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	.	.	.	5.19	5.19	0.71726	.	0.206931	0.49916	D	0.000137	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-17.3482	17.2959	0.87170	0.0:1.0:0.0:0.0	.	.	.	.	X	962;911	.	ENSP00000336747:E962X	E	-	1	0	HIP1	75010112	1.000000	0.71417	1.000000	0.80357	0.575000	0.36095	5.694000	0.68272	2.415000	0.81967	0.563000	0.77884	GAG		0.572	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		13	49	1	0	7.04e-09	1.3e-08	13	49				
SLC26A3	1811	broad.mit.edu	37	7	107408304	107408304	+	Silent	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr7:107408304C>T	ENST00000340010.5	-	19	2296	c.2112G>A	c.(2110-2112)gtG>gtA	p.V704V	SLC26A3_ENST00000422236.2_Silent_p.V591V	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	704	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTGAGCTTTTCACTTCACCAT	0.328																																						uc003ver.2		NA																	0				ovary(3)|skin(1)	4						c.(2110-2112)GTG>GTA		solute carrier family 26, member 3							95.0	96.0	96.0					7																	107408304		2203	4300	6503	SO:0001819	synonymous_variant	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107408304C>T	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.2112G>A	7.37:g.107408304C>T						SLC26A3_uc003ves.2_Silent_p.V591V	p.V704V	NM_000111	NP_000102	P40879	S26A3_HUMAN			19	2323	-			704			Helical; (Potential).|STAS.			Silent	SNP	ENST00000340010.5	37	c.2112G>A	CCDS5748.1																																																																																				0.328	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		11	29	0	0	0	0	11	29				
SLC4A2	6522	broad.mit.edu	37	7	150772740	150772740	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr7:150772740G>T	ENST00000485713.1	+	21	4389	c.3349G>T	c.(3349-3351)Gtg>Ttg	p.V1117L	SLC4A2_ENST00000461735.1_Missense_Mutation_p.V1103L|SLC4A2_ENST00000310317.5_Missense_Mutation_p.V1035L|SLC4A2_ENST00000392826.2_Missense_Mutation_p.V1108L|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000413384.2_Missense_Mutation_p.V1117L	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1117	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCCCTGGCCGTGCTCTTTGG	0.607																																						uc003wit.3		NA																	0					0						c.(3349-3351)GTG>TTG		solute carrier family 4, anion exchanger, member							58.0	64.0	62.0					7																	150772740		2203	4300	6503	SO:0001583	missense	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150772740G>T		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.3349G>T	7.37:g.150772740G>T	ENSP00000419412:p.Val1117Leu					SLC4A2_uc011kve.1_Missense_Mutation_p.V1108L|SLC4A2_uc003wiu.3_Missense_Mutation_p.V1103L|SLC4A2_uc003wiv.3_Missense_Mutation_p.V311L|uc011kvf.1_Intron	p.V1117L	NM_003040	NP_003031	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	21	3605	+			1117			Membrane (anion exchange).|Helical; (Potential).		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.3349G>T	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.990774	0.93106	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76	5.54	5.54	0.83059	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93070	0.7794	M	0.91872	3.25	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.997	D;D;D	0.75020	0.975;0.975;0.985	D	0.93917	0.7202	10	0.87932	D	0	.	18.6556	0.91452	0.0:0.0:1.0:0.0	.	1108;1103;1117	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	L	1117;1117;1035;1108;1103	ENSP00000419412:V1117L;ENSP00000405600:V1117L;ENSP00000311402:V1035L;ENSP00000376571:V1108L;ENSP00000419164:V1103L	ENSP00000311402:V1035L	V	+	1	0	SLC4A2	150403673	1.000000	0.71417	0.986000	0.45419	0.965000	0.64279	7.793000	0.85851	2.884000	0.98904	0.655000	0.94253	GTG		0.607	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		9	56	1	0	5.69e-11	1.06e-10	9	56				
MSR1	4481	broad.mit.edu	37	8	16026358	16026358	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr8:16026358G>A	ENST00000262101.5	-	4	360	c.239C>T	c.(238-240)aCg>aTg	p.T80M	MSR1_ENST00000445506.2_Missense_Mutation_p.T98M|MSR1_ENST00000355282.2_Missense_Mutation_p.T80M|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000381998.4_Missense_Mutation_p.T80M|MSR1_ENST00000350896.3_Missense_Mutation_p.T80M			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	80	Spacer. {ECO:0000305}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GCAATTCTTCGTTTCCCACTT	0.383																																						uc003wwz.2		NA																	0				ovary(1)	1						c.(238-240)ACG>ATG		macrophage scavenger receptor 1 isoform type 1							119.0	114.0	116.0					8																	16026358		2203	4300	6503	SO:0001583	missense	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:16026358G>A	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.239C>T	8.37:g.16026358G>A	ENSP00000262101:p.Thr80Met					MSR1_uc010lsu.2_Missense_Mutation_p.T98M|MSR1_uc003wxa.2_Missense_Mutation_p.T80M|MSR1_uc003wxb.2_Missense_Mutation_p.T80M|MSR1_uc011kxz.1_Intron	p.T80M	NM_138715	NP_619729	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	4	437	-			80			Spacer (Probable).|Extracellular (Potential).		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.239C>T	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	G	5.473	0.272276	0.10349	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000381998	D;D;D;D;D	0.90069	-2.25;-2.01;-2.0;-2.25;-2.61	5.05	-4.62	0.03370	.	0.863662	0.10210	N	0.702274	T	0.66607	0.2806	N	0.01576	-0.805	0.58432	D	0.999999	B;B;B;B	0.22211	0.025;0.023;0.066;0.04	B;B;B;B	0.11329	0.002;0.004;0.006;0.003	T	0.32428	-0.9907	10	0.30078	T	0.28	.	8.1474	0.31119	0.3262:0.1461:0.5277:0.0	.	98;80;80;80	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	M	80;80;98;80;80	ENSP00000262100:T80M;ENSP00000262101:T80M;ENSP00000405453:T98M;ENSP00000347430:T80M;ENSP00000371428:T80M	ENSP00000262101:T80M	T	-	2	0	MSR1	16070729	0.940000	0.31905	0.951000	0.38953	0.044000	0.14063	0.053000	0.14184	-0.829000	0.04268	-0.806000	0.03193	ACG		0.383	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			30	40	0	0	0	0	30	40				
ABRA	137735	broad.mit.edu	37	8	107782160	107782160	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr8:107782160C>T	ENST00000311955.3	-	1	313	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CCATGTCCTTCTGGCAGGCGG	0.532																																						uc003ymm.3		NA																	0				ovary(2)	2						c.(259-261)GAA>AAA		actin-binding Rho activating protein							99.0	99.0	99.0					8																	107782160		2203	4300	6503	SO:0001583	missense	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107782160C>T	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.259G>A	8.37:g.107782160C>T	ENSP00000311436:p.Glu87Lys						p.E87K	NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		1	313	-			87						Missense_Mutation	SNP	ENST00000311955.3	37	c.259G>A	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	C	9.879	1.201020	0.22121	.	.	ENSG00000174429	ENST00000311955	D	0.93366	-3.21	5.8	3.92	0.45320	.	0.944962	0.09009	N	0.861802	D	0.89220	0.6653	L	0.47716	1.5	0.19300	N	0.99998	B	0.30439	0.279	B	0.28011	0.085	T	0.79157	-0.1919	10	0.35671	T	0.21	-22.7665	6.6097	0.22745	0.1582:0.6681:0.0:0.1737	.	87	Q8N0Z2	ABRA_HUMAN	K	87	ENSP00000311436:E87K	ENSP00000311436:E87K	E	-	1	0	ABRA	107851336	0.007000	0.16637	0.843000	0.33291	0.667000	0.39255	1.513000	0.35823	2.735000	0.93741	0.655000	0.94253	GAA		0.532	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		18	124	0	0	0	0	18	124				
KCNV1	27012	broad.mit.edu	37	8	110986443	110986443	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr8:110986443A>T	ENST00000524391.1	-	2	1207	c.175T>A	c.(175-177)Tgc>Agc	p.C59S	KCNV1_ENST00000297404.1_Missense_Mutation_p.C59S|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	59					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TGCGGGAAGCAGGACAGCGCC	0.711																																						uc003ynr.3		NA																	0				lung(1)|kidney(1)	2						c.(175-177)TGC>AGC		potassium channel, subfamily V, member 1							12.0	11.0	11.0					8																	110986443		2184	4268	6452	SO:0001583	missense	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110986443A>T	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.175T>A	8.37:g.110986443A>T	ENSP00000435954:p.Cys59Ser					KCNV1_uc010mcw.2_Missense_Mutation_p.C59S	p.C59S	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		1	517	-	all_neural(195;0.219)		59			Cytoplasmic (Potential).		Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.175T>A	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.743804	0.49151	.	.	ENSG00000164794	ENST00000524391;ENST00000297404	T;T	0.75589	-0.95;-0.95	4.95	4.95	0.65309	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.244651	0.42682	D	0.000661	T	0.47655	0.1457	N	0.01761	-0.735	0.34486	D	0.70446	B	0.06786	0.001	B	0.08055	0.003	T	0.56360	-0.7992	10	0.54805	T	0.06	.	9.383	0.38325	0.8411:0.0:0.0:0.1589	.	59	Q6PIU1	KCNV1_HUMAN	S	59	ENSP00000435954:C59S;ENSP00000297404:C59S	ENSP00000297404:C59S	C	-	1	0	KCNV1	111055619	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	2.696000	0.47052	2.066000	0.61787	0.533000	0.62120	TGC		0.711	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		3	5	0	0	0	0	3	5				
UNC13B	10497	broad.mit.edu	37	9	35380621	35380621	+	Missense_Mutation	SNP	G	G	A	rs138199360		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr9:35380621G>A	ENST00000378495.3	+	17	2335	c.2113G>A	c.(2113-2115)Gtc>Atc	p.V705I	UNC13B_ENST00000378496.4_Missense_Mutation_p.V705I|UNC13B_ENST00000396787.1_Missense_Mutation_p.V717I	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	705					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.V705I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CGAGATGGACGTCTGGTACAA	0.493													G|||	1	0.000199681	0.0	0.0014	5008	,	,		22321	0.0		0.0	False		,,,				2504	0.0					uc003zwq.2		NA																	1	Substitution - Missense(1)		prostate(1)	ovary(3)|large_intestine(1)|skin(1)	5						c.(2113-2115)GTC>ATC		UNC13 (C. elegans)-like		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	184.0	156.0	166.0		2113	5.5	1.0	9	dbSNP_134	166	0,8600		0,0,4300	no	missense	UNC13B	NM_006377.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	705/1592	35380621	1,13005	2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35380621G>A	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.2113G>A	9.37:g.35380621G>A	ENSP00000367756:p.Val705Ile					UNC13B_uc003zwr.2_Missense_Mutation_p.V705I	p.V705I	NM_006377	NP_006368	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		17	2405	+	all_epithelial(49;0.212)		705					Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.2113G>A	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482172	0.84747	2.27E-4	0.0	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	T;T;T	0.71341	-0.56;-0.56;-0.56	5.5	5.5	0.81552	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.69940	0.3167	M	0.77313	2.365	0.80722	D	1	D;B	0.57257	0.979;0.13	B;B	0.36030	0.216;0.008	T	0.78214	-0.2291	10	0.66056	D	0.02	-18.1378	17.9296	0.88992	0.0:0.0:1.0:0.0	.	705;705	F8W8M9;O14795	.;UN13B_HUMAN	I	717;705;705;292	ENSP00000380006:V717I;ENSP00000367756:V705I;ENSP00000367757:V705I	ENSP00000367756:V705I	V	+	1	0	UNC13B	35370621	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.760000	0.98935	2.596000	0.87737	0.591000	0.81541	GTC		0.493	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		22	62	0	0	0	0	22	62				
C9orf3	84909	broad.mit.edu	37	9	97522394	97522394	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr9:97522394C>T	ENST00000375315.2	+	1	329	c.329C>T	c.(328-330)tCt>tTt	p.S110F	C9orf3_ENST00000297979.5_Missense_Mutation_p.S110F|C9orf3_ENST00000277198.2_Missense_Mutation_p.S110F	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	110					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AAAGATACTTCTGATAAAGAT	0.408																																						uc004ava.2		NA																	0				ovary(1)	1						c.(328-330)TCT>TTT		aminopeptidase O							153.0	158.0	156.0					9																	97522394		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97522394C>T	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.329C>T	9.37:g.97522394C>T	ENSP00000364464:p.Ser110Phe					C9orf3_uc011lui.1_RNA|C9orf3_uc004aux.1_Missense_Mutation_p.S110F|C9orf3_uc004auy.2_Missense_Mutation_p.S110F|C9orf3_uc004auz.1_Missense_Mutation_p.S110F	p.S110F	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	1	464	+			110					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.329C>T	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327579	0.41197	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315	T;T;T	0.12984	2.64;2.63;2.81	4.88	1.93	0.25924	.	0.249082	0.35378	N	0.003255	T	0.11153	0.0272	L	0.39397	1.21	0.80722	D	1	B;B;B;B	0.30211	0.016;0.273;0.082;0.027	B;B;B;B	0.33196	0.015;0.159;0.058;0.022	T	0.13124	-1.0521	10	0.40728	T	0.16	-4.4894	7.2509	0.26148	0.137:0.7246:0.0:0.1385	.	110;110;110;110	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	F	110	ENSP00000277198:S110F;ENSP00000297979:S110F;ENSP00000364464:S110F	ENSP00000277198:S110F	S	+	2	0	C9orf3	96562215	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	1.668000	0.37481	0.310000	0.22990	0.563000	0.77884	TCT		0.408	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		29	97	0	0	0	0	29	97				
SLC31A1	1317	broad.mit.edu	37	9	116022567	116022567	+	Silent	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr9:116022567C>T	ENST00000374212.4	+	5	539	c.387C>T	c.(385-387)agC>agT	p.S129S	SLC31A1_ENST00000374210.6_Silent_p.S129S|CDC26_ENST00000490408.1_Intron	NM_001859.3	NP_001850.1	O15431	COPT1_HUMAN	solute carrier family 31 (copper transporter), member 1	129					cellular copper ion homeostasis (GO:0006878)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	copper ion transmembrane transporter activity (GO:0005375)|copper uptake transmembrane transporter activity (GO:0015088)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7					Bortezomib(DB00188)|Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AGATGCTGAGCTTTCCTCACC	0.498																																					Ovarian(135;1049 1799 4519 17564 28677)	uc004bgu.2		NA																	0					0						c.(385-387)AGC>AGT		solute carrier family 31 (copper transporters),							148.0	118.0	128.0					9																	116022567		2203	4300	6503	SO:0001819	synonymous_variant	1317					integral to plasma membrane	copper ion transmembrane transporter activity	g.chr9:116022567C>T	U83460	CCDS6789.1	9q32	2013-07-17	2013-07-17		ENSG00000136868	ENSG00000136868		"""Solute carriers"""	11016	protein-coding gene	gene with protein product	copper transport 1 homolog (S. cerevisiae)	603085		COPT1		9207117	Standard	NM_001859		Approved	hCTR1, CTR1	uc004bgu.3	O15431	OTTHUMG00000020519	ENST00000374212.4:c.387C>T	9.37:g.116022567C>T						FKBP15_uc010muu.1_Intron|SLC31A1_uc004bgv.3_Silent_p.S129S	p.S129S	NM_001859	NP_001850	O15431	COPT1_HUMAN			5	573	+			129			Cytoplasmic (Potential).		A8K8Z6|Q53GR5|Q5T1M4	Silent	SNP	ENST00000374212.4	37	c.387C>T	CCDS6789.1																																																																																				0.498	SLC31A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053715.1	NM_001859		20	84	0	0	0	0	20	84				
RAI2	10742	broad.mit.edu	37	X	17819548	17819549	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:17819548_17819549GG>TT	ENST00000545871.1	-	3	1042_1043	c.582_583CC>AA	c.(580-585)tcCCag>tcAAag	p.Q195K	RAI2_ENST00000331511.1_Missense_Mutation_p.Q195K|RAI2_ENST00000415486.3_Missense_Mutation_p.Q145K|RAI2_ENST00000360011.1_Missense_Mutation_p.Q195K|RAI2_ENST00000451717.1_Missense_Mutation_p.Q195K	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	195					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					AGAGTGCCCTGGGAGGGAAACA	0.658																																						uc004cyf.2		NA																	0				ovary(1)|breast(1)	2						c.(580-585)TCCCAG>TCAAAG		retinoic acid induced 2																																				SO:0001583	missense	10742				embryo development			g.chrX:17819548_17819549GG>TT	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.582_583delinsTT	X.37:g.17819548_17819549delinsTT	ENSP00000444210:p.Gln195Lys					RAI2_uc004cyg.2_Missense_Mutation_p.Q195K|RAI2_uc010nfa.2_Missense_Mutation_p.Q195K|RAI2_uc004cyh.3_Missense_Mutation_p.Q195K|RAI2_uc011miy.1_Missense_Mutation_p.Q145K	p.Q195K	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN			3	1152_1153	-	Hepatocellular(33;0.183)		195					B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Missense_Mutation	DNP	ENST00000545871.1	37	c.582_583CC>AA	CCDS14183.1																																																																																				0.658	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785		9	42	0	0	0	0	9	42				
CXorf23	256643	broad.mit.edu	37	X	19983783	19983783	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:19983783G>C	ENST00000379682.4	-	3	686	c.653C>G	c.(652-654)tCa>tGa	p.S218*	CXorf23_ENST00000356980.3_Nonsense_Mutation_p.S218*|CXorf23_ENST00000379687.3_Nonsense_Mutation_p.S218*			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	218						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						AGGTCTTTTTGATGTGTGTCC	0.438																																						uc004czp.2		NA																	0				lung(1)|skin(1)	2						c.(652-654)TCA>TGA		hypothetical protein LOC256643							170.0	149.0	155.0					X																	19983783		1904	4126	6030	SO:0001587	stop_gained	256643					mitochondrion		g.chrX:19983783G>C	AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.653C>G	X.37:g.19983783G>C	ENSP00000369004:p.Ser218*					CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_Translation_Start_Site|CXorf23_uc004czo.2_Nonsense_Mutation_p.S168*	p.S218*	NM_198279	NP_938020	A2AJT9	CX023_HUMAN			3	653	-			218					A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Nonsense_Mutation	SNP	ENST00000379682.4	37	c.653C>G		.	.	.	.	.	.	.	.	.	.	G	37	6.205472	0.97376	.	.	ENSG00000173681	ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038	.	.	.	5.78	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0958	0.20019	0.1564:0.0:0.6911:0.1525	.	.	.	.	X	218;218;218;106	.	.	S	-	2	0	CXorf23	19893704	1.000000	0.71417	0.809000	0.32408	0.995000	0.86356	3.388000	0.52509	1.206000	0.43276	0.550000	0.68814	TCA		0.438	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2	NM_198279		22	101	0	0	0	0	22	101				
DMD	1756	broad.mit.edu	37	X	31947740	31947740	+	Silent	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:31947740G>C	ENST00000357033.4	-	47	7091	c.6885C>G	c.(6883-6885)ctC>ctG	p.L2295L	DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Silent_p.L2291L|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000343523.2_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2295					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTGTCTGCTTGAGCTTATTTT	0.403																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(6883-6885)CTC>CTG		dystrophin Dp427m isoform							251.0	196.0	215.0					X																	31947740		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31947740G>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6885C>G	X.37:g.31947740G>C						DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Silent_p.L951L|DMD_uc004dcx.2_Silent_p.L954L|DMD_uc004dcz.2_Silent_p.L2172L|DMD_uc004dcy.1_Silent_p.L2291L|DMD_uc004ddb.1_Silent_p.L2287L|DMD_uc010ngn.1_Intron	p.L2295L	NM_004006	NP_003997	P11532	DMD_HUMAN			47	7129	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2295			Spectrin 16.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.6885C>G	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	4.616	0.114500	0.08831	.	.	ENSG00000198947	ENST00000465285	.	.	.	5.15	4.28	0.50868	.	.	.	.	.	T	0.60248	0.2254	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56932	-0.7897	4	.	.	.	.	9.8393	0.40989	0.0:0.2715:0.5948:0.1337	.	.	.	.	E	24	.	.	Q	-	1	0	DMD	31857661	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	1.287000	0.33284	1.044000	0.40200	-0.232000	0.12228	CAA		0.403	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		16	84	0	0	0	0	16	84				
MAGEH1	28986	broad.mit.edu	37	X	55479236	55479236	+	Silent	SNP	A	A	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:55479236A>G	ENST00000342972.1	+	1	699	c.429A>G	c.(427-429)agA>agG	p.R143R	hsa-mir-4536-2_ENST00000583537.1_RNA	NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	143	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						TTGTGCGCAGAGGGTACCTGA	0.532																																						uc004dum.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(427-429)AGA>AGG		melanoma antigen, family H, 1 protein							93.0	86.0	88.0					X																	55479236		2203	4300	6503	SO:0001819	synonymous_variant	28986				apoptosis			g.chrX:55479236A>G	AF320912	CCDS14369.1	Xp11.22	2008-02-05			ENSG00000187601	ENSG00000187601			24092	protein-coding gene	gene with protein product		300548				12414813, 9485030	Standard	NM_014061		Approved	APR1	uc004dum.3	Q9H213	OTTHUMG00000021655	ENST00000342972.1:c.429A>G	X.37:g.55479236A>G							p.R143R	NM_014061	NP_054780	Q9H213	MAGH1_HUMAN			1	699	+			143			MAGE.		B2R8V9|Q5JRJ3|Q9Y5M2	Silent	SNP	ENST00000342972.1	37	c.429A>G	CCDS14369.1																																																																																				0.532	MAGEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056868.1	NM_014061		18	60	0	0	0	0	18	60				
MED12	9968	broad.mit.edu	37	X	70347742	70347742	+	Splice_Site	SNP	G	G	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:70347742G>T	ENST00000374080.3	+	22	3013		c.e22-1		MED12_ENST00000374102.1_Splice_Site|MED12_ENST00000333646.6_Splice_Site			Q93074	MED12_HUMAN	mediator complex subunit 12						androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CATCCCTGCAGCGACTTTTGC	0.493			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.2		NA		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.e22-1		mediator complex subunit 12							59.0	52.0	55.0					X																	70347742		2020	4160	6180	SO:0001630	splice_region_variant	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70347742G>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.2982-1G>T	X.37:g.70347742G>T						MED12_uc011mpq.1_Splice_Site_p.S994_splice|MED12_uc004dyz.2_Splice_Site_p.S994_splice|MED12_uc004dza.2_Splice_Site_p.S841_splice|MED12_uc010nla.2_5'Flank	p.S994_splice	NM_005120	NP_005111	Q93074	MED12_HUMAN			22	3181	+	Renal(35;0.156)							O15410|O75557|Q9UHV6|Q9UND7	Splice_Site	SNP	ENST00000374080.3	37	c.2982_splice	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	12.70	2.016234	0.35606	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4389	0.87560	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MED12	70264467	1.000000	0.71417	0.899000	0.35326	0.264000	0.26372	8.972000	0.93424	2.388000	0.81334	0.597000	0.82753	.		0.493	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120	Intron	11	24	1	0	2.81e-09	5.22e-09	11	24				
HDAC8	55869	broad.mit.edu	37	X	71681889	71681889	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:71681889C>G	ENST00000373573.3	-	9	1311	c.970G>C	c.(970-972)Ggg>Cgg	p.G324R	HDAC8_ENST00000429103.2_Missense_Mutation_p.G129R|HDAC8_ENST00000373589.4_Missense_Mutation_p.G233R|HDAC8_ENST00000373583.1_Intron	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	324	Histone deacetylase.				chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cohesin localization to chromatin (GO:0071922)|sister chromatid cohesion (GO:0007062)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	AGTGTTTTCCCTAGGATGACC	0.463																																						uc004eau.2		NA																	0					0						c.(970-972)GGG>CGG		histone deacetylase 8	Vorinostat(DB02546)						138.0	109.0	119.0					X																	71681889		2203	4300	6503	SO:0001583	missense	55869				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	g.chrX:71681889C>G	AF230097	CCDS14420.1, CCDS55448.1, CCDS55449.1, CCDS55450.1, CCDS55451.1, CCDS55452.1	Xq13	2014-01-29	2002-09-02	2002-09-06	ENSG00000147099	ENSG00000147099			13315	protein-coding gene	gene with protein product		300269	"""histone deacetylase-like 1"", ""Wilson-Turner X-linked mental retardation syndrome"""	HDACL1, WTS, MRXS6		10756090, 10922473, 22889856	Standard	NM_001166448		Approved	RPD3	uc004eau.3	Q9BY41	OTTHUMG00000021814	ENST00000373573.3:c.970G>C	X.37:g.71681889C>G	ENSP00000362674:p.Gly324Arg					HDAC8_uc011mqe.1_Missense_Mutation_p.G181R|HDAC8_uc011mqf.1_Missense_Mutation_p.G129R|HDAC8_uc011mqg.1_Missense_Mutation_p.G233R	p.G324R	NM_018486	NP_060956	Q9BY41	HDAC8_HUMAN			9	1012	-	Renal(35;0.156)		324			Histone deacetylase.		A6ND12|A6ND61|A6NET3|A6NJR3|A8MQ62|B4DKN0|B4DV22|Q86VC8|Q9NP76|Q9NYH4	Missense_Mutation	SNP	ENST00000373573.3	37	c.970G>C	CCDS14420.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990943	0.74703	.	.	ENSG00000147099	ENST00000373573;ENST00000373589;ENST00000429103;ENST00000373568;ENST00000415409	D;D;D;D;T	0.85484	-1.99;-1.99;-1.99;-1.99;-1.13	5.62	5.62	0.85841	Histone deacetylase domain (1);	0.045684	0.85682	D	0.000000	D	0.92993	0.7770	M	0.88979	2.995	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.986	D;D;P	0.66084	0.941;0.913;0.786	D	0.94019	0.7291	10	0.66056	D	0.02	-4.4181	15.8943	0.79323	0.0:1.0:0.0:0.0	.	233;233;324	B4DKN0;A6NGJ7;Q9BY41	.;.;HDAC8_HUMAN	R	324;233;129;233;298	ENSP00000362674:G324R;ENSP00000362691:G233R;ENSP00000388459:G129R;ENSP00000362669:G233R;ENSP00000396424:G298R	ENSP00000362669:G233R	G	-	1	0	HDAC8	71598614	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.698000	0.68302	2.352000	0.79861	0.594000	0.82650	GGG		0.463	HDAC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057193.2	NM_018486		18	101	0	0	0	0	18	101				
XKRX	402415	broad.mit.edu	37	X	100183244	100183244	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:100183244G>A	ENST00000372956.2	-	1	654	c.50C>T	c.(49-51)tCa>tTa	p.S17L	XKRX_ENST00000328526.5_Missense_Mutation_p.S30L|XKRX_ENST00000468904.1_Missense_Mutation_p.S17L			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						CTCCAGAGATGAAACCGGATC	0.468																																						uc004egn.2		NA																	0				breast(1)	1						c.(49-51)TCA>TTA		XK, Kell blood group complex subunit-related,							173.0	167.0	169.0					X																	100183244		2203	4300	6503	SO:0001583	missense	402415					integral to membrane|plasma membrane		g.chrX:100183244G>A	AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"""X Kell blood group precursor-related, X-linked"""				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.50C>T	X.37:g.100183244G>A	ENSP00000362047:p.Ser17Leu					XKRX_uc011mre.1_5'UTR	p.S17L	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN			1	655	-			17					B2RNN6|B4DKU2|Q5H9J6	Missense_Mutation	SNP	ENST00000372956.2	37	c.50C>T	CCDS14476.2	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111162	0.37242	.	.	ENSG00000182489	ENST00000328526;ENST00000372956;ENST00000468904	T;T	0.65549	-0.16;-0.16	4.65	4.65	0.58169	.	1.123880	0.06820	N	0.791988	T	0.44540	0.1298	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17228	-1.0376	10	0.27082	T	0.32	-2.3578	11.7562	0.51875	0.0:0.0:1.0:0.0	.	17	Q6PP77	XKR2_HUMAN	L	30;17;17	ENSP00000327570:S30L;ENSP00000362047:S17L	ENSP00000327570:S30L	S	-	2	0	XKRX	100069900	0.991000	0.36638	0.173000	0.22940	0.974000	0.67602	4.394000	0.59671	2.158000	0.67659	0.429000	0.28392	TCA		0.468	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057501.3	NM_212559		67	182	0	0	0	0	67	182				
H2BFWT	158983	broad.mit.edu	37	X	103267977	103267977	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:103267977G>A	ENST00000217926.5	-	1	282	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C	H2BFM_ENST00000243297.5_5'Flank	NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	86						membrane (GO:0016020)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AGCACCCGGCGGAAATAGGTG	0.622																																						uc004elr.2		NA																	0				ovary(1)	1						c.(256-258)CGC>TGC		H2B histone family, member W, testis-specific							46.0	43.0	44.0					X																	103267977		2203	4300	6503	SO:0001583	missense	158983				nucleosome assembly	nuclear membrane|nucleosome	DNA binding	g.chrX:103267977G>A	BC038109	CCDS35362.1	Xq22.2	2011-01-27			ENSG00000123569	ENSG00000123569		"""Histones / Replication-independent"""	27252	protein-coding gene	gene with protein product		300507				12477932	Standard	NM_001002916		Approved		uc004elr.3	Q7Z2G1	OTTHUMG00000022120	ENST00000217926.5:c.256C>T	X.37:g.103267977G>A	ENSP00000354723:p.Arg86Cys						p.R86C	NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN			1	280	-			86					B1AK72|Q147W3	Missense_Mutation	SNP	ENST00000217926.5	37	c.256C>T	CCDS35362.1	.	.	.	.	.	.	.	.	.	.	.	15.17	2.752720	0.49362	.	.	ENSG00000123569	ENST00000217926	T	0.21734	1.99	2.84	-1.96	0.07525	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.14485	0.0350	N	0.14661	0.345	0.09310	N	0.999998	D	0.64830	0.994	P	0.48227	0.571	T	0.23868	-1.0176	9	0.48119	T	0.1	.	8.8879	0.35414	0.7854:0.0:0.2146:0.0	.	86	Q7Z2G1	H2BWT_HUMAN	C	86	ENSP00000354723:R86C	ENSP00000354723:R86C	R	-	1	0	H2BFWT	103154633	1.000000	0.71417	0.000000	0.03702	0.113000	0.19764	3.352000	0.52239	-0.647000	0.05444	0.600000	0.82982	CGC		0.622	H2BFWT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057756.2	NM_001002916		11	102	0	0	0	0	11	102				
KIAA1210	57481	broad.mit.edu	37	X	118220797	118220797	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:118220797G>T	ENST00000402510.2	-	11	4395	c.4396C>A	c.(4396-4398)Cta>Ata	p.L1466I		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1466										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGATTGGATAGGTTTGCATGC	0.433																																						uc004era.3		NA																	0				ovary(4)|skin(1)	5						c.(4396-4398)CTA>ATA		hypothetical protein LOC57481							77.0	73.0	74.0					X																	118220797		1881	4097	5978	SO:0001583	missense	57481							g.chrX:118220797G>T	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4396C>A	X.37:g.118220797G>T	ENSP00000384670:p.Leu1466Ile						p.L1466I	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			11	4396	-			1466					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.4396C>A	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.380|5.380	0.255278|0.255278	0.10185|0.10185	.|.	.|.	ENSG00000250423|ENSG00000248857	ENST00000402510|ENST00000440399	T|.	0.11821|.	2.74|.	5.0|5.0	-8.04|-8.04	0.01110|0.01110	.|.	.|.	.|.	.|.	.|.	T|T	0.19846|0.19846	0.0477|0.0477	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	P|.	0.37101|.	0.582|.	B|.	0.31686|.	0.134|.	T|T	0.19712|0.19712	-1.0297|-1.0297	9|5	0.30854|.	T|.	0.27|.	.|.	1.129|1.129	0.01741|0.01741	0.2117:0.2407:0.3247:0.2228|0.2117:0.2407:0.3247:0.2228	.|.	1466|.	Q9ULL0|.	K1210_HUMAN|.	I|H	1466|872	ENSP00000384670:L1466I|.	ENSP00000384670:L1466I|.	L|P	-|-	1|2	2|0	RP13-347D8.6|KIAA1210	118104825|118104825	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.682000|-0.682000	0.05185|0.05185	-2.018000|-2.018000	0.00943|0.00943	-0.422000|-0.422000	0.05995|0.05995	CTA|CCT		0.433	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		11	80	1	0	6.43e-13	1.21e-12	11	80				
ENOX2	10495	broad.mit.edu	37	X	129799651	129799651	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:129799651C>T	ENST00000370927.1	-	7	1088	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	ENOX2_ENST00000394363.1_Missense_Mutation_p.R327Q|ENOX2_ENST00000338144.3_Missense_Mutation_p.R356Q|ENOX2_ENST00000370935.1_Missense_Mutation_p.R327Q			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	356					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GATGTTCTTCCGCTGGGCTTT	0.483																																					Ovarian(101;828 1506 2951 9500 35258)	uc004evw.2		NA																	0				ovary(1)	1						c.(1066-1068)CGG>CAG		ecto-NOX disulfide-thiol exchanger 2 isoform b							105.0	68.0	81.0					X																	129799651		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129799651C>T	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1067G>A	X.37:g.129799651C>T	ENSP00000359965:p.Arg356Gln					ENOX2_uc004evx.2_Missense_Mutation_p.R327Q|ENOX2_uc004evy.2_Missense_Mutation_p.R327Q|ENOX2_uc004evv.2_Missense_Mutation_p.R183Q	p.R356Q	NM_182314	NP_872114	Q16206	ENOX2_HUMAN			10	1485	-			356					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.1067G>A	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773064	0.90108	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	T;T	0.28895	1.59;1.59	5.44	4.58	0.56647	.	0.117298	0.64402	D	0.000015	T	0.32071	0.0817	M	0.78637	2.42	0.47994	D	0.999562	P;P	0.44006	0.824;0.824	B;B	0.36186	0.219;0.219	T	0.19031	-1.0318	9	.	.	.	-5.478	10.9065	0.47084	0.0:0.9083:0.0:0.0917	.	356;384	Q16206;A4QPE1	ENOX2_HUMAN;.	Q	327;327;356;327;384;356;327	ENSP00000337146:R356Q;ENSP00000359965:R356Q	.	R	-	2	0	ENOX2	129627332	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.621000	0.67743	1.277000	0.44412	0.594000	0.82650	CGG		0.483	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		4	22	0	0	0	0	4	22				
OR13H1	347468	broad.mit.edu	37	X	130678614	130678614	+	Silent	SNP	T	T	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:130678614T>G	ENST00000338616.3	+	1	665	c.567T>G	c.(565-567)tcT>tcG	p.S189S		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TGACCTGTTCTGATACCAGCC	0.463																																						uc011muw.1		NA																	0					0						c.(565-567)TCT>TCG		olfactory receptor, family 13, subfamily H,							256.0	220.0	232.0					X																	130678614		2203	4300	6503	SO:0001819	synonymous_variant	347468				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chrX:130678614T>G		CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"""GPCR / Class A : Olfactory receptors"""	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	ENST00000338616.3:c.567T>G	X.37:g.130678614T>G						IGSF1_uc004ewf.2_Intron	p.S189S	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN			1	567	+	Acute lymphoblastic leukemia(192;0.000636)		189			Extracellular (Potential).		B2RNQ3|Q6IET8|Q96R12	Silent	SNP	ENST00000338616.3	37	c.567T>G	CCDS35396.1																																																																																				0.463	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058297.1			49	246	0	0	0	0	49	246				
GPR112	139378	broad.mit.edu	37	X	135431895	135431895	+	Silent	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:135431895C>G	ENST00000394143.1	+	6	6321	c.6030C>G	c.(6028-6030)ctC>ctG	p.L2010L	GPR112_ENST00000412101.1_Silent_p.L1805L|GPR112_ENST00000287534.4_Silent_p.L1947L|GPR112_ENST00000394141.1_Silent_p.L1805L|GPR112_ENST00000370652.1_Silent_p.L2010L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2010					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGACATGGCTCTTATCTAGTC	0.453																																						uc004ezu.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(6028-6030)CTC>CTG		G-protein coupled receptor 112							120.0	102.0	108.0					X																	135431895		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135431895C>G	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.6030C>G	X.37:g.135431895C>G						GPR112_uc010nsb.1_Silent_p.L1805L|GPR112_uc010nsc.1_Silent_p.L1777L	p.L2010L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	6321	+	Acute lymphoblastic leukemia(192;0.000127)		2010			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.6030C>G	CCDS35409.1																																																																																				0.453	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			19	138	0	0	0	0	19	138				
ZIC3	7547	broad.mit.edu	37	X	136649666	136649666	+	Silent	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:136649666C>T	ENST00000287538.5	+	1	1366	c.816C>T	c.(814-816)ttC>ttT	p.F272F	ZIC3_ENST00000370606.3_Silent_p.F272F	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	272					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					ACCGGACCTTCAGCACCATGC	0.612																																						uc004fak.2		NA																	0				ovary(2)|breast(1)	3						c.(814-816)TTC>TTT		zinc finger protein of the cerebellum 3							52.0	51.0	51.0					X																	136649666		2203	4300	6503	SO:0001819	synonymous_variant	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136649666C>T	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.816C>T	X.37:g.136649666C>T							p.F272F	NM_003413	NP_003404	O60481	ZIC3_HUMAN			1	1321	+	Acute lymphoblastic leukemia(192;0.000127)		272			C2H2-type 1; atypical.		B2CNW4|Q14DE5|Q5JY75	Silent	SNP	ENST00000287538.5	37	c.816C>T	CCDS14663.1																																																																																				0.612	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			9	94	0	0	0	0	9	94				
UBE2NL	389898	broad.mit.edu	37	X	142967283	142967283	+	Silent	SNP	A	A	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:142967283A>G	ENST00000370494.1	+	1	111	c.81A>G	c.(79-81)ccA>ccG	p.P27P		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	27						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCAGAACCAGATGAAAGCA	0.512																																						uc004fca.2		NA																	0					0						c.(79-81)CCA>CCG		ubiquitin-conjugating enzyme E2N-like							80.0	78.0	79.0					X																	142967283		2203	4300	6503	SO:0001819	synonymous_variant	389898						acid-amino acid ligase activity	g.chrX:142967283A>G			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"""Ubiquitin-conjugating enzymes E2"""	31710	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2N-like"""			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.81A>G	X.37:g.142967283A>G							p.P27P	NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN			1	111	+	Acute lymphoblastic leukemia(192;6.56e-05)		27					E9KL27	Silent	SNP	ENST00000370494.1	37	c.81A>G	CCDS35420.1																																																																																				0.512	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989		44	111	0	0	0	0	44	111				
CD99L2	83692	broad.mit.edu	37	X	149963727	149963727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:149963727G>A	ENST00000370377.3	-	6	499	c.382C>T	c.(382-384)Cga>Tga	p.R128*	CD99L2_ENST00000355149.3_Nonsense_Mutation_p.R56*|CD99L2_ENST00000466436.1_Nonsense_Mutation_p.R79*|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	128				R -> Q (in Ref. 4; BAG54124). {ECO:0000305}.	cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CGATCATTTCGATCATCCAGG	0.448																																						uc004fel.2		NA																	0				large_intestine(2)|ovary(1)	3						c.(382-384)CGA>TGA		CD99 antigen-like 2 isoform E3'-E4'-E3-E4							151.0	151.0	151.0					X																	149963727		2203	4300	6503	SO:0001587	stop_gained	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149963727G>A	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.382C>T	X.37:g.149963727G>A	ENSP00000359403:p.Arg128*					CD99L2_uc004fek.2_RNA|CD99L2_uc004fem.2_Nonsense_Mutation_p.R79*|CD99L2_uc004fen.2_Nonsense_Mutation_p.R56*|CD99L2_uc004feo.2_RNA|CD99L2_uc011myb.1_Intron	p.R128*	NM_031462	NP_113650	Q8TCZ2	C99L2_HUMAN			6	500	-	Acute lymphoblastic leukemia(192;6.56e-05)		128	R -> Q (in Ref. 4; BAG54124).		Extracellular (Potential).		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Nonsense_Mutation	SNP	ENST00000370377.3	37	c.382C>T	CCDS35427.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080144	0.76528	.	.	ENSG00000102181	ENST00000370377;ENST00000438086;ENST00000355149;ENST00000466436;ENST00000418547	.	.	.	3.67	2.78	0.32641	.	0.399023	0.25842	N	0.027950	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.3726	9.2935	0.37802	0.0:0.0:0.7841:0.2159	.	.	.	.	X	128;132;56;79;91	.	.	R	-	1	2	CD99L2	149714385	0.912000	0.30974	0.929000	0.37066	0.931000	0.56810	1.148000	0.31614	0.878000	0.35920	0.513000	0.50165	CGA		0.448	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		32	205	0	0	0	0	32	205				
FAM3A	60343	broad.mit.edu	37	X	153736911	153736911	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:153736911A>T	ENST00000447601.2	-	4	635	c.169T>A	c.(169-171)Tac>Aac	p.Y57N	FAM3A_ENST00000393572.1_Missense_Mutation_p.Y19N|FAM3A_ENST00000369641.3_Missense_Mutation_p.Y57N|FAM3A_ENST00000369643.1_Missense_Mutation_p.Y57N|FAM3A_ENST00000359889.5_Missense_Mutation_p.Y57N|FAM3A_ENST00000492763.1_5'Flank|FAM3A_ENST00000434658.2_Missense_Mutation_p.Y57N	NM_021806.2	NP_068578.2	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	57						extracellular region (GO:0005576)				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCACACTTGTACTTCCTGGCC	0.647																																						uc004fls.1		NA																	0				large_intestine(1)	1						c.(169-171)TAC>AAC		family 3, member A protein precursor							35.0	23.0	27.0					X																	153736911		2198	4294	6492	SO:0001583	missense	60343					extracellular region		g.chrX:153736911A>T	X74610	CCDS35453.1, CCDS55542.1, CCDS55543.1, CCDS76060.1	Xq28	2008-07-29			ENSG00000071889	ENSG00000071889			13749	protein-coding gene	gene with protein product		300492				8733135, 8281148	Standard	NM_021806		Approved	DXS560S, 2-19, XAP-7	uc004fls.2	P98173	OTTHUMG00000013418	ENST00000447601.2:c.169T>A	X.37:g.153736911A>T	ENSP00000416146:p.Tyr57Asn					FAM3A_uc004flt.1_Missense_Mutation_p.Y71N|FAM3A_uc011mzp.1_Missense_Mutation_p.Y57N|FAM3A_uc004flu.1_Missense_Mutation_p.Y71N|FAM3A_uc011mzq.1_Missense_Mutation_p.Y57N|FAM3A_uc004flw.1_Missense_Mutation_p.Y57N	p.Y57N	NM_021806	NP_068578	P98173	FAM3A_HUMAN			4	446	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		57					A6QRH6|B2RBI7|B4DFI8|D3DWX4|Q5HY76|Q96H51	Missense_Mutation	SNP	ENST00000447601.2	37	c.169T>A	CCDS35453.1	.	.	.	.	.	.	.	.	.	.	A	13.81	2.347527	0.41599	.	.	ENSG00000071889	ENST00000434658;ENST00000359889;ENST00000369643;ENST00000447601;ENST00000369641;ENST00000393572;ENST00000426266;ENST00000442929	T;T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96;1.96	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.36331	0.0963	L	0.49350	1.555	0.80722	D	1	D;B;B;B	0.67145	0.996;0.008;0.34;0.016	D;B;B;B	0.63877	0.919;0.022;0.07;0.036	T	0.04386	-1.0955	10	0.34782	T	0.22	.	12.9587	0.58444	1.0:0.0:0.0:0.0	.	57;57;71;57	B4DFI8;Q5HY75;D3DWX8;P98173	.;.;.;FAM3A_HUMAN	N	57;57;57;57;57;19;57;19	ENSP00000396243:Y57N;ENSP00000352955:Y57N;ENSP00000358657:Y57N;ENSP00000416146:Y57N;ENSP00000358655:Y57N;ENSP00000377202:Y19N;ENSP00000396845:Y57N	ENSP00000352955:Y57N	Y	-	1	0	FAM3A	153390105	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.786000	0.69006	1.699000	0.51192	0.430000	0.28490	TAC		0.647	FAM3A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037362.2			6	11	0	0	0	0	6	11				
MPP1	4354	broad.mit.edu	37	X	154033634	154033634	+	Silent	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:154033634C>T	ENST00000369534.3	-	1	162	c.15G>A	c.(13-15)gcG>gcA	p.A5A	MPP1_ENST00000393531.1_Silent_p.A5A|MPP1_ENST00000413259.3_5'UTR	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	5					nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGCCCTCGCTCGCCTTGAGGG	0.672																																						uc004fmp.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(13-15)GCG>GCA		palmitoylated membrane protein 1							33.0	25.0	28.0					X																	154033634		2203	4299	6502	SO:0001819	synonymous_variant	4354				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding	g.chrX:154033634C>T		CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"""membrane protein, palmitoylated 1 (55kD)"""	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.15G>A	X.37:g.154033634C>T						MPP1_uc010nvg.1_Silent_p.A5A|MPP1_uc011mzv.1_5'UTR|MPP1_uc004fmq.1_5'UTR|MPP1_uc011mzw.1_Silent_p.A5A|MPP1_uc010nvh.1_Silent_p.A5A	p.A5A	NM_002436	NP_002427	Q00013	EM55_HUMAN			1	130	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		5					B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Silent	SNP	ENST00000369534.3	37	c.15G>A	CCDS14762.1																																																																																				0.672	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061191.3	NM_002436		4	25	0	0	0	0	4	25				
SYDE2	84144	broad.mit.edu	37	1	85656306	85656307	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:85656306_85656307insA	ENST00000341460.5	-	2	923_924	c.874_875insT	c.(874-876)tatfs	p.Y292fs		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	292					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		AGTACTCTGATATAGCCAATTG	0.381																																						uc009wcm.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(874-876)TATfs		synapse defective 1, Rho GTPase, homolog 2																																				SO:0001589	frameshift_variant	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85656306_85656307insA	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.875dupT	1.37:g.85656307_85656307dupA	ENSP00000340594:p.Tyr292fs					SYDE2_uc001dku.3_Frame_Shift_Ins_p.Y292fs	p.Y292fs	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	2	923_924	-			292					Q5VT96|Q8NDB8|Q9H8A6	Frame_Shift_Ins	INS	ENST00000341460.5	37	c.874_875insT	CCDS44169.1																																																																																				0.381	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			58	127	NA	NA	NA	NA	58	127	---	---	---	---
TANC1	85461	broad.mit.edu	37	2	160085398	160085399	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:160085398_160085399insA	ENST00000263635.6	+	26	4379_4380	c.4142_4143insA	c.(4141-4146)agaaatfs	p.N1382fs	TANC1_ENST00000454300.1_Frame_Shift_Ins_p.N1276fs	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1382					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AGAGCGAAGAGAAATAGCAGGT	0.47																																						uc002uag.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(4141-4143)AGAfs		tetratricopeptide repeat, ankyrin repeat and																																				SO:0001589	frameshift_variant	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160085398_160085399insA	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.4145dupA	2.37:g.160085401_160085401dupA	ENSP00000263635:p.Asn1382fs					TANC1_uc010zcm.1_Frame_Shift_Ins_p.R1373fs|TANC1_uc010fon.2_Frame_Shift_Ins_p.R225fs	p.R1381fs	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			26	4416_4417	+			1381			TPR 3.		C9JD88|Q49AI8	Frame_Shift_Ins	INS	ENST00000263635.6	37	c.4142_4143insA	CCDS42766.1																																																																																				0.470	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			40	96	NA	NA	NA	NA	40	96	---	---	---	---
MAGEA3	4102	broad.mit.edu	37	X	151935346	151935346	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:151935346delC	ENST00000393902.3	-	3	1388	c.821delG	c.(820-822)ggtfs	p.G274fs	MAGEA3_ENST00000370278.3_Frame_Shift_Del_p.G274fs			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	274	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCCTTGGACCCCACAGGAA	0.532																																						uc004fgp.2		NA																	0					0						c.(820-822)GGTfs		melanoma antigen family A, 3							142.0	137.0	139.0					X																	151935346		2202	4295	6497	SO:0001589	frameshift_variant	4102							g.chrX:151935346delC		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.821delG	X.37:g.151935346delC	ENSP00000377480:p.Gly274fs						p.G274fs	NM_005362	NP_005353	P43357	MAGA3_HUMAN			3	1030	-	Acute lymphoblastic leukemia(192;6.56e-05)		274			MAGE.		Q6FHI6	Frame_Shift_Del	DEL	ENST00000393902.3	37	c.821delG	CCDS14715.1																																																																																				0.532	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		36	253	NA	NA	NA	NA	36	253	---	---	---	---
