#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	12418560	12418560	+	Silent	SNP	G	G	T	rs368874780		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:12418560G>T	ENST00000358136.3	+	50	10174	c.10044G>T	c.(10042-10044)ccG>ccT	p.P3348P	VPS13D_ENST00000356315.4_Silent_p.P3323P	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)		AAGGCATGCCGGGCTGGTGTC	0.512																																						uc001atv.2		NA																	0				ovary(4)|pancreas(1)	5						c.(10042-10044)CCG>CCT		vacuolar protein sorting 13D isoform 1							118.0	116.0	117.0					1																	12418560		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12418560G>T	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.10044G>T	1.37:g.12418560G>T						VPS13D_uc001atw.2_Silent_p.P3323P|VPS13D_uc001atx.2_Silent_p.P2535P	p.P3348P	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)	50	10185	+	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)	3347						Silent	SNP	ENST00000358136.3	37	c.10044G>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	9.234	1.036595	0.19669	.	.	ENSG00000048707	ENST00000011700	.	.	.	6.17	-5.18	0.02840	.	.	.	.	.	T	0.34919	0.0914	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42799	-0.9430	4	.	.	.	.	0.3798	0.00393	0.3287:0.1523:0.2588:0.2602	.	.	.	.	L	2170	.	.	R	+	2	0	VPS13D	12341147	0.007000	0.16637	0.982000	0.44146	0.997000	0.91878	-1.360000	0.02600	-0.478000	0.06823	-0.140000	0.14226	CGG		0.512	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		39	17	1	0	3.55e-21	6.52e-21	39	17				
KLHDC7A	127707	broad.mit.edu	37	1	18808770	18808770	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:18808770T>C	ENST00000400664.1	+	1	1347	c.1295T>C	c.(1294-1296)cTg>cCg	p.L432P		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	432						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGCCTGGATCTGGGCAATTGC	0.612																																						uc001bax.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1294-1296)CTG>CCG		kelch domain containing 7A							50.0	55.0	54.0					1																	18808770		2203	4300	6503	SO:0001583	missense	127707					integral to membrane		g.chr1:18808770T>C	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1295T>C	1.37:g.18808770T>C	ENSP00000383505:p.Leu432Pro					KLHDC7A_uc009vpg.2_Missense_Mutation_p.L214P	p.L432P	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	1347	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	432					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.1295T>C	CCDS185.2	.	.	.	.	.	.	.	.	.	.	T	18.07	3.541156	0.65085	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.78816	-1.21	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000014	D	0.83161	0.5194	L	0.55990	1.75	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.60886	0.88;0.88	D	0.84743	0.0752	10	0.62326	D	0.03	.	13.8102	0.63260	0.0:0.0:0.0:1.0	.	369;432	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	P	432;369	ENSP00000383505:L432P	ENSP00000383505:L432P	L	+	2	0	KLHDC7A	18681357	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	5.107000	0.64603	1.943000	0.56356	0.260000	0.18958	CTG		0.612	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		72	40	0	0	0	0	72	40				
HSPG2	3339	broad.mit.edu	37	1	22179293	22179293	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:22179293C>T	ENST00000374695.3	-	52	6703	c.6624G>A	c.(6622-6624)gtG>gtA	p.V2208V	HSPG2_ENST00000430507.1_Silent_p.V154V	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2208	Ig-like C2-type 7.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CGGCCGGGGTCACCTGGTGCA	0.657																																						uc001bfj.2		NA																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(6622-6624)GTG>GTA		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						25.0	28.0	27.0					1																	22179293		2198	4295	6493	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22179293C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.6624G>A	1.37:g.22179293C>T						HSPG2_uc009vqd.2_Silent_p.V2209V	p.V2208V	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	52	6664	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2208			Ig-like C2-type 7.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.6624G>A	CCDS30625.1																																																																																				0.657	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		19	44	0	0	0	0	19	44				
SEPN1	57190	broad.mit.edu	37	1	26138256	26138256	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:26138256C>T	ENST00000374315.1	+	8	1103	c.1065C>T	c.(1063-1065)caC>caT	p.H355H	SEPN1_ENST00000354177.4_Silent_p.H355H|SEPN1_ENST00000361547.2_Silent_p.H389H|RP1-317E23.6_ENST00000527604.1_5'Flank	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	389						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TCGACAGCCACCTGCCTTCAG	0.647																																						uc010oer.1		NA																	0				ovary(2)	2						c.(1165-1167)CAC>CAT		selenoprotein N, 1 isoform 1 precursor							25.0	27.0	27.0					1																	26138256		2078	4225	6303	SO:0001819	synonymous_variant	57190					endoplasmic reticulum membrane|extracellular region	protein binding	g.chr1:26138256C>T	AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"""EF-hand domain containing"""	15999	protein-coding gene	gene with protein product		606210	"""rigid spine muscular dystrophy 1"""	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.1065C>T	1.37:g.26138256C>T						SEPN1_uc010oes.1_Silent_p.H355H	p.H389H	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)	11	1222	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	389					A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Silent	SNP	ENST00000374315.1	37	c.1167C>T	CCDS41283.1																																																																																				0.647	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2	NM_020451		4	17	0	0	0	0	4	17				
FGR	2268	broad.mit.edu	37	1	27949593	27949593	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:27949593T>A	ENST00000374005.3	-	4	577	c.289A>T	c.(289-291)Acc>Tcc	p.T97S	FGR_ENST00000399173.1_Missense_Mutation_p.T97S|FGR_ENST00000545953.1_Missense_Mutation_p.T97S|FGR_ENST00000374004.1_Missense_Mutation_p.T97S|FGR_ENST00000468038.1_5'Flank	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	97	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTGGTGAAGGTGAGGTCATCC	0.557																																						uc001boj.2		NA																	0				skin(2)	2						c.(289-291)ACC>TCC		proto-oncogene tyrosine-protein kinase FGR							213.0	149.0	171.0					1																	27949593		2203	4300	6503	SO:0001583	missense	2268				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:27949593T>A	BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"""SH2 domain containing"""	3697	protein-coding gene	gene with protein product		164940	"""Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog"", ""v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog"", ""feline Gardner-Rasheed sarcoma viral oncogene homolog"""	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.289A>T	1.37:g.27949593T>A	ENSP00000363117:p.Thr97Ser					FGR_uc001bok.2_Missense_Mutation_p.T97S|FGR_uc001bol.2_Missense_Mutation_p.T97S|FGR_uc001bom.2_Missense_Mutation_p.T97S	p.T97S	NM_005248	NP_005239	P09769	FGR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	2	435	-		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	97			SH3.		D3DPL7|Q9UIQ3	Missense_Mutation	SNP	ENST00000374005.3	37	c.289A>T	CCDS305.1	.	.	.	.	.	.	.	.	.	.	T	6.890	0.533642	0.13188	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003;ENST00000457296	T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1	5.41	2.9	0.33743	Src homology-3 domain (5);	0.107611	0.37809	N	0.001922	T	0.13543	0.0328	N	0.01824	-0.7	0.22401	N	0.999134	B	0.09022	0.002	B	0.09377	0.004	T	0.31530	-0.9940	10	0.02654	T	1	.	9.0671	0.36469	0.2917:0.0:0.0:0.7083	.	97	P09769	FGR_HUMAN	S	97	ENSP00000363117:T97S;ENSP00000445302:T97S;ENSP00000382126:T97S;ENSP00000363116:T97S;ENSP00000363115:T97S;ENSP00000407670:T97S	ENSP00000363115:T97S	T	-	1	0	FGR	27822180	0.952000	0.32445	0.998000	0.56505	0.992000	0.81027	0.681000	0.25320	0.971000	0.38288	0.528000	0.53228	ACC		0.557	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1	NM_005248		16	60	0	0	0	0	16	60				
PTPRF	5792	broad.mit.edu	37	1	44054597	44054597	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:44054597G>T	ENST00000359947.4	+	8	1215	c.875G>T	c.(874-876)cGc>cTc	p.R292L	PTPRF_ENST00000372414.3_Missense_Mutation_p.R292L|PTPRF_ENST00000438120.1_Missense_Mutation_p.R292L|PTPRF_ENST00000422171.2_5'Flank|PTPRF_ENST00000372413.3_Missense_Mutation_p.R292L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	292	Ig-like C2-type 3.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AATGTCGTACGCTCTGCCAAC	0.597																																						uc001cjr.2		NA																	0				ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(874-876)CGC>CTC		protein tyrosine phosphatase, receptor type, F							135.0	107.0	116.0					1																	44054597		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44054597G>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.875G>T	1.37:g.44054597G>T	ENSP00000353030:p.Arg292Leu					PTPRF_uc001cjs.2_Missense_Mutation_p.R292L|PTPRF_uc001cju.2_5'Flank|PTPRF_uc009vwt.2_5'Flank|PTPRF_uc001cjv.2_5'Flank	p.R292L	NM_002840	NP_002831	P10586	PTPRF_HUMAN			8	1215	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	292			Extracellular (Potential).|Ig-like C2-type 3.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.875G>T	CCDS489.2	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300594	0.40694	.	.	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	5.62	4.5	0.54988	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.33980	N	0.004371	T	0.13500	0.0327	N	0.20530	0.585	0.80722	D	1	B;P	0.37955	0.094;0.612	B;B	0.35727	0.046;0.209	T	0.02385	-1.1167	10	0.48119	T	0.1	.	4.2039	0.10480	0.3075:0.0:0.6925:0.0	.	292;292	P10586-2;P10586	.;PTPRF_HUMAN	L	292	ENSP00000353030:R292L;ENSP00000398822:R292L;ENSP00000361491:R292L;ENSP00000361490:R292L	ENSP00000353030:R292L	R	+	2	0	PTPRF	43827184	0.991000	0.36638	0.854000	0.33618	0.045000	0.14185	6.532000	0.73825	2.811000	0.96726	0.655000	0.94253	CGC		0.597	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			5	16	1	0	4.1e-09	6.64e-09	5	16				
PTPRF	5792	broad.mit.edu	37	1	44058190	44058190	+	Silent	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:44058190C>G	ENST00000359947.4	+	11	2071	c.1731C>G	c.(1729-1731)ctC>ctG	p.L577L	PTPRF_ENST00000372414.3_Silent_p.L577L|PTPRF_ENST00000438120.1_Silent_p.L577L|PTPRF_ENST00000422171.2_Silent_p.L36L|PTPRF_ENST00000372413.3_Silent_p.L577L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	577	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGACACACTCTACCGCTTCC	0.602																																						uc001cjr.2		NA																	0				ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(1729-1731)CTC>CTG		protein tyrosine phosphatase, receptor type, F							178.0	144.0	156.0					1																	44058190		2203	4300	6503	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44058190C>G	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1731C>G	1.37:g.44058190C>G						PTPRF_uc001cjs.2_Silent_p.L577L|PTPRF_uc001cju.2_Silent_p.L148L|PTPRF_uc009vwt.2_Silent_p.L148L|PTPRF_uc001cjv.2_Silent_p.L148L	p.L577L	NM_002840	NP_002831	P10586	PTPRF_HUMAN			11	2071	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	577			Extracellular (Potential).|Fibronectin type-III 3.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.1731C>G	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.599|4.599	0.111355|0.111355	0.08831|0.08831	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000429895	T;T|.	0.57436|.	0.4;0.4|.	4.49|4.49	2.32|2.32	0.28847|0.28847	.|.	0.352385|.	0.16273|.	N|.	0.221715|.	T|T	0.51584|0.51584	0.1683|0.1683	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39683|0.39683	-0.9602|-0.9602	7|4	0.27082|.	T|.	0.32|.	.|.	4.6433|4.6433	0.12560|0.12560	0.0863:0.2758:0.5067:0.1312|0.0863:0.2758:0.5067:0.1312	.|.	.|.	.|.	.|.	V|C	245;102|234	ENSP00000391764:L245V;ENSP00000416343:L102V|.	ENSP00000361484:L93V|.	L|S	+|+	1|2	2|0	PTPRF|PTPRF	43830777|43830777	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.580000|0.580000	0.36256|0.36256	1.376000|1.376000	0.34306|0.34306	0.453000|0.453000	0.26858|0.26858	-0.311000|-0.311000	0.09066|0.09066	CTA|TCT		0.602	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			72	37	0	0	0	0	72	37				
PTPRF	5792	broad.mit.edu	37	1	44058210	44058210	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:44058210C>T	ENST00000359947.4	+	11	2091	c.1751C>T	c.(1750-1752)gCa>gTa	p.A584V	PTPRF_ENST00000372414.3_Missense_Mutation_p.A584V|PTPRF_ENST00000438120.1_Missense_Mutation_p.A584V|PTPRF_ENST00000422171.2_Missense_Mutation_p.A43V|PTPRF_ENST00000372413.3_Missense_Mutation_p.A584V	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	584	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAGCTGGCTGCACGCTCGGAT	0.612																																						uc001cjr.2		NA																	0				ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(1750-1752)GCA>GTA		protein tyrosine phosphatase, receptor type, F							144.0	117.0	126.0					1																	44058210		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44058210C>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1751C>T	1.37:g.44058210C>T	ENSP00000353030:p.Ala584Val					PTPRF_uc001cjs.2_Missense_Mutation_p.A584V|PTPRF_uc001cju.2_Missense_Mutation_p.A155V|PTPRF_uc009vwt.2_Missense_Mutation_p.A155V|PTPRF_uc001cjv.2_Missense_Mutation_p.A155V	p.A584V	NM_002840	NP_002831	P10586	PTPRF_HUMAN			11	2091	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	584			Extracellular (Potential).|Fibronectin type-III 3.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.1751C>T	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.9|29.9	5.046382|5.046382	0.93740|0.93740	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171|ENST00000429895	T;T;T;T;T|.	0.68624|.	-0.34;0.6;-0.34;0.6;-0.34|.	4.49|4.49	4.49|4.49	0.54785|0.54785	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.34156|.	N|.	0.004219|.	D|D	0.86121|0.86121	0.5857|0.5857	M|M	0.92970|0.92970	3.365|3.365	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;0.997;0.999;1.0|.	D;D;D;D;D|.	0.97110|.	0.999;1.0;0.994;0.994;0.999|.	D|D	0.89992|0.89992	0.4108|0.4108	10|5	0.87932|.	D|.	0|.	.|.	18.0731|18.0731	0.89417|0.89417	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	240;43;343;584;584|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.;.;.;.;PTPRF_HUMAN|.	V|Y	584;584;584;584;43|241	ENSP00000353030:A584V;ENSP00000398822:A584V;ENSP00000361491:A584V;ENSP00000361490:A584V;ENSP00000387885:A43V|.	ENSP00000353030:A584V|.	A|H	+|+	2|1	0|0	PTPRF|PTPRF	43830797|43830797	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.821000|0.821000	0.46438|0.46438	7.487000|7.487000	0.81328|0.81328	2.434000|2.434000	0.82447|0.82447	0.561000|0.561000	0.74099|0.74099	GCA|CAC		0.612	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			50	32	0	0	0	0	50	32				
SPATA6	54558	broad.mit.edu	37	1	48764465	48764465	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:48764465C>A	ENST00000371847.3	-	13	1551	c.1387G>T	c.(1387-1389)Gag>Tag	p.E463*	SPATA6_ENST00000396199.3_Nonsense_Mutation_p.E391*|SPATA6_ENST00000371843.3_Nonsense_Mutation_p.E447*	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	463					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						ATGCTGTTCTCAAAGATGGGT	0.468																																						uc001crr.1		NA																	0				ovary(1)	1						c.(1387-1389)GAG>TAG		spermatogenesis associated 6 precursor							166.0	166.0	166.0					1																	48764465		2203	4300	6503	SO:0001587	stop_gained	54558				cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		g.chr1:48764465C>A	AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"""spermatogenesis-related factor-1"""	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.1387G>T	1.37:g.48764465C>A	ENSP00000360913:p.Glu463*					SPATA6_uc001crs.1_Nonsense_Mutation_p.E447*|SPATA6_uc010omv.1_Nonsense_Mutation_p.E449*	p.E463*	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN			13	1552	-			463					Q5T3N7|Q8WUE6	Nonsense_Mutation	SNP	ENST00000371847.3	37	c.1387G>T	CCDS551.1	.	.	.	.	.	.	.	.	.	.	C	37	6.327176	0.97476	.	.	ENSG00000132122	ENST00000371847;ENST00000371843;ENST00000396199	.	.	.	4.78	4.78	0.61160	.	0.062950	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	13.1884	0.59695	0.0:1.0:0.0:0.0	.	.	.	.	X	463;447;391	.	ENSP00000360909:E447X	E	-	1	0	SPATA6	48537052	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.378000	0.59568	2.474000	0.83562	0.563000	0.77884	GAG		0.468	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021347.1	NM_019073		36	85	1	0	1.07e-15	1.9e-15	36	85				
LRRIQ3	127255	broad.mit.edu	37	1	74506982	74506982	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:74506982G>C	ENST00000395089.1	-	6	1632	c.1633C>G	c.(1633-1635)Cta>Gta	p.L545V	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.L545V			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	545										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTCTCTTTTAGGACAGCCTCA	0.328																																						uc001dfy.3		NA																	0				ovary(2)	2						c.(1633-1635)CTA>GTA		leucine-rich repeats and IQ motif containing 3							80.0	76.0	77.0					1																	74506982		1804	4067	5871	SO:0001583	missense	127255							g.chr1:74506982G>C	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1633C>G	1.37:g.74506982G>C	ENSP00000378524:p.Leu545Val					LRRIQ3_uc001dfz.3_Intron	p.L545V	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			7	1825	-			545					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.1633C>G	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343259	0.24339	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.10288	2.89;2.89	5.86	-0.24	0.13047	.	.	.	.	.	T	0.02156	0.0067	L	0.27053	0.805	0.09310	N	1	P	0.42456	0.78	B	0.38106	0.265	T	0.42481	-0.9449	9	0.46703	T	0.11	.	5.0788	0.14646	0.1548:0.0:0.5093:0.336	.	545	A6PVS8	LRIQ3_HUMAN	V	545	ENSP00000378524:L545V;ENSP00000346414:L545V	ENSP00000346414:L545V	L	-	1	2	LRRIQ3	74279570	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.313000	0.08103	0.239000	0.21243	0.650000	0.86243	CTA		0.328	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		16	48	0	0	0	0	16	48				
MSH4	4438	broad.mit.edu	37	1	76365339	76365339	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:76365339C>G	ENST00000263187.3	+	19	2671	c.2567C>G	c.(2566-2568)tCa>tGa	p.S856*		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	856					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CTTCCACCATCAATTGTCTTG	0.303								Mismatch excision repair (MMR)																														uc001dhd.1		NA																	0				lung(3)|ovary(2)	5						c.(2566-2568)TCA>TGA	MMR	mutS homolog 4							91.0	93.0	93.0					1																	76365339		2203	4300	6503	SO:0001587	stop_gained	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76365339C>G	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.2567C>G	1.37:g.76365339C>G	ENSP00000263187:p.Ser856*						p.S856*	NM_002440	NP_002431	O15457	MSH4_HUMAN			19	2608	+			856					Q5T4U6|Q8NEB3|Q9UNP8	Nonsense_Mutation	SNP	ENST00000263187.3	37	c.2567C>G	CCDS670.1	.	.	.	.	.	.	.	.	.	.	C	39	7.896522	0.98548	.	.	ENSG00000057468	ENST00000263187	.	.	.	5.61	5.61	0.85477	.	0.327305	0.32218	N	0.006402	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	2.0182	17.8182	0.88642	0.0:1.0:0.0:0.0	.	.	.	.	X	856	.	ENSP00000263187:S856X	S	+	2	0	MSH4	76137927	0.965000	0.33210	1.000000	0.80357	0.969000	0.65631	2.705000	0.47127	2.643000	0.89663	0.467000	0.42956	TCA		0.303	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		16	41	0	0	0	0	16	41				
VCAM1	7412	broad.mit.edu	37	1	101200228	101200228	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:101200228A>G	ENST00000294728.2	+	8	2064	c.1963A>G	c.(1963-1965)Atc>Gtc	p.I655V	VCAM1_ENST00000370119.4_Missense_Mutation_p.I593V|VCAM1_ENST00000347652.2_Missense_Mutation_p.I563V|VCAM1_ENST00000370115.1_Missense_Mutation_p.I456V	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	655	Ig-like C2-type 7.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CGCCTATACCATCCGAAAGGC	0.398																																						uc001dti.2		NA																	0				central_nervous_system(1)	1						c.(1963-1965)ATC>GTC		vascular cell adhesion molecule 1 isoform a	Carvedilol(DB01136)						97.0	100.0	99.0					1																	101200228		2203	4300	6503	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101200228A>G	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1963A>G	1.37:g.101200228A>G	ENSP00000294728:p.Ile655Val					VCAM1_uc001dtj.2_Missense_Mutation_p.I563V|VCAM1_uc010ouj.1_Missense_Mutation_p.I593V	p.I655V	NM_001078	NP_001069	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	8	2083	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	655			Ig-like C2-type 7.|Extracellular (Potential).		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.1963A>G	CCDS773.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.990200	0.54041	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.77	5.77	0.91146	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.105829	0.64402	D	0.000006	D	0.83622	0.5294	M	0.84082	2.675	0.22562	N	0.998989	D;D;D	0.57899	0.981;0.966;0.977	P;P;D	0.63381	0.815;0.886;0.914	T	0.79090	-0.1946	10	0.46703	T	0.11	-24.4699	14.9653	0.71188	1.0:0.0:0.0:0.0	.	593;563;655	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	V	593;563;655;456	ENSP00000359137:I593V;ENSP00000304611:I563V;ENSP00000294728:I655V;ENSP00000359133:I456V	ENSP00000294728:I655V	I	+	1	0	VCAM1	100972816	0.450000	0.25697	0.997000	0.53966	0.177000	0.22998	2.427000	0.44740	2.326000	0.78906	0.533000	0.62120	ATC		0.398	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		23	17	0	0	0	0	23	17				
COL11A1	1301	broad.mit.edu	37	1	103444450	103444450	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:103444450C>A	ENST00000370096.3	-	34	2987	c.2675G>T	c.(2674-2676)gGt>gTt	p.G892V	COL11A1_ENST00000358392.2_Missense_Mutation_p.G904V|COL11A1_ENST00000512756.1_Missense_Mutation_p.G776V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G853V	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	892	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTCTTGCACCTCTTGAACC	0.403																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(2674-2676)GGT>GTT		alpha 1 type XI collagen isoform A							75.0	81.0	79.0					1																	103444450		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103444450C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2675G>T	1.37:g.103444450C>A	ENSP00000359114:p.Gly892Val					COL11A1_uc001duk.2_Missense_Mutation_p.G88V|COL11A1_uc001dum.2_Missense_Mutation_p.G904V|COL11A1_uc001dun.2_Missense_Mutation_p.G853V|COL11A1_uc009weh.2_Missense_Mutation_p.G776V	p.G892V	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	34	2993	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	892			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2675G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228825	0.79576	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99186	-5.53;-5.53;-5.53;-5.53	5.35	5.35	0.76521	.	0.057095	0.64402	D	0.000001	D	0.99576	0.9847	H	0.95539	3.685	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.996;0.999;1.0;0.998;0.998	D	0.98074	1.0400	10	0.87932	D	0	.	19.0619	0.93096	0.0:1.0:0.0:0.0	.	776;853;904;892;112	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	V	892;904;853;112;776	ENSP00000359114:G892V;ENSP00000351163:G904V;ENSP00000302551:G853V;ENSP00000426533:G776V	ENSP00000302551:G853V	G	-	2	0	COL11A1	103217038	1.000000	0.71417	0.966000	0.40874	0.866000	0.49608	7.343000	0.79319	2.506000	0.84524	0.655000	0.94253	GGT		0.403	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		38	25	1	0	8.69e-16	1.55e-15	38	25				
LRIF1	55791	broad.mit.edu	37	1	111492660	111492660	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:111492660G>T	ENST00000369763.4	-	3	2072	c.1682C>A	c.(1681-1683)gCa>gAa	p.A561E	LRIF1_ENST00000494675.1_Missense_Mutation_p.A25E|LRIF1_ENST00000485275.2_Missense_Mutation_p.A25E|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	561					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CAGATGTAATGCCTTATTACT	0.378																																						uc001eaa.2		NA																	0					0						c.(1681-1683)GCA>GAA		receptor-interacting factor 1 isoform 1							127.0	115.0	119.0					1																	111492660		2203	4300	6503	SO:0001583	missense	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111492660G>T	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1682C>A	1.37:g.111492660G>T	ENSP00000358778:p.Ala561Glu					C1orf103_uc001dzz.2_Missense_Mutation_p.A25E|C1orf103_uc001eab.2_Missense_Mutation_p.A25E|C1orf103_uc001eac.1_Missense_Mutation_p.A25E	p.A561E	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)	3	1938	-		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)	561					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	c.1682C>A	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	G	9.064	0.995144	0.19043	.	.	ENSG00000121931	ENST00000369763;ENST00000494675;ENST00000485275	T;T;T	0.35605	1.3;1.55;1.55	4.96	1.84	0.25277	.	0.662343	0.14618	N	0.308580	T	0.28699	0.0711	L	0.56769	1.78	0.09310	N	0.999999	D;B	0.61080	0.989;0.024	P;B	0.58928	0.848;0.021	T	0.06391	-1.0829	10	0.62326	D	0.03	-5.9791	3.7739	0.08652	0.2041:0.0:0.5905:0.2054	.	25;561	Q5T3J3-2;Q5T3J3	.;LRIF1_HUMAN	E	561;25;25	ENSP00000358778:A561E;ENSP00000435259:A25E;ENSP00000432290:A25E	ENSP00000358778:A561E	A	-	2	0	LRIF1	111294183	0.000000	0.05858	0.069000	0.20011	0.199000	0.23934	0.024000	0.13555	0.695000	0.31675	0.563000	0.77884	GCA		0.378	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		13	24	1	0	5.51e-06	8.18e-06	13	24				
TBX15	6913	broad.mit.edu	37	1	119474274	119474274	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:119474274A>C	ENST00000369429.3	-	2	396	c.387T>G	c.(385-387)atT>atG	p.I129M	TBX15_ENST00000207157.3_Missense_Mutation_p.I23M			Q96SF7	TBX15_HUMAN	T-box 15	129					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TTTCAGTTCCAATATCATGGA	0.493																																						uc001ehl.1		NA																	0				large_intestine(1)|pancreas(1)	2						c.(67-69)ATT>ATG		T-box 15							102.0	91.0	95.0					1																	119474274		2203	4300	6503	SO:0001583	missense	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119474274A>C	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.387T>G	1.37:g.119474274A>C	ENSP00000358437:p.Ile129Met						p.I23M	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	2	384	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	129			T-box.		Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37	c.69T>G		.	.	.	.	.	.	.	.	.	.	A	17.45	3.393719	0.62066	.	.	ENSG00000092607	ENST00000207157;ENST00000369429	T;T	0.80824	-1.42;-1.42	5.97	-4.9	0.03094	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.81384	0.4811	M	0.64170	1.965	0.58432	D	0.999999	D	0.76494	0.999	D	0.79784	0.993	D	0.84031	0.0359	10	0.66056	D	0.02	.	15.4886	0.75587	0.4409:0.0:0.5591:0.0	.	129	Q96SF7	TBX15_HUMAN	M	23;129	ENSP00000207157:I23M;ENSP00000358437:I129M	ENSP00000207157:I23M	I	-	3	3	TBX15	119275797	0.587000	0.26791	0.673000	0.29887	0.983000	0.72400	-0.098000	0.11024	-0.985000	0.03503	-0.472000	0.04984	ATT		0.493	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		9	40	0	0	0	0	9	40				
NBPF10	100132406	broad.mit.edu	37	1	145368633	145368633	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:145368633G>T	ENST00000369339.3	+	17	2218	c.1965G>T	c.(1963-1965)acG>acT	p.T655T	NBPF10_ENST00000369338.1_Silent_p.T653T|NBPF10_ENST00000342960.5_Silent_p.T3537T			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	0	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTACTTTGACGGTGACAAGTC	0.458																																						uc001end.3		NA																	0					0						c.(10834-10836)ACG>ACT		hypothetical protein LOC100132406																																				SO:0001819	synonymous_variant	100132406							g.chr1:145368633G>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.1965G>T	1.37:g.145368633G>T						NBPF9_uc010oye.1_Silent_p.T896T|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Silent_p.T465T|NBPF10_uc010oyk.1_Silent_p.T253T|NBPF10_uc010oyl.1_Silent_p.T253T	p.T3612T	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	86	10871	+	all_hematologic(923;0.032)		3537					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.10836G>T																																																																																					0.458	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		7	521	1	0	1.64e-05	2.41e-05	7	521				
GJA8	2703	broad.mit.edu	37	1	147380375	147380375	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:147380375A>T	ENST00000369235.1	+	1	293	c.293A>T	c.(292-294)cAc>cTc	p.H98L	GJA8_ENST00000240986.4_Missense_Mutation_p.H98L			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	98					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CACGCGGTGCACTACGTCCGC	0.652																																					Melanoma(76;1255 1795 8195 52096)	uc001epu.1		NA																	0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(292-294)CAC>CTC		connexin 50							97.0	81.0	87.0					1																	147380375		2203	4300	6503	SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380375A>T	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.293A>T	1.37:g.147380375A>T	ENSP00000358238:p.His98Leu						p.H98L	NM_005267	NP_005258	P48165	CXA8_HUMAN			2	356	+	all_hematologic(923;0.0276)		98			Helical; (Potential).		A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.293A>T	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	a	23.2	4.383507	0.82792	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.99167	-5.51;-5.51	5.2	5.2	0.72013	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99287	0.9751	M	0.87328	2.875	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99160	1.0861	10	0.87932	D	0	.	15.0493	0.71854	1.0:0.0:0.0:0.0	.	98	P48165	CXA8_HUMAN	L	98	ENSP00000240986:H98L;ENSP00000358238:H98L	ENSP00000240986:H98L	H	+	2	0	GJA8	145846999	1.000000	0.71417	0.997000	0.53966	0.715000	0.41141	9.249000	0.95470	1.950000	0.56595	0.402000	0.26972	CAC		0.652	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		17	57	0	0	0	0	17	57				
ECM1	1893	broad.mit.edu	37	1	150480696	150480696	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:150480696C>G	ENST00000369047.4	+	1	136	c.11C>G	c.(10-12)aCa>aGa	p.T4R	ECM1_ENST00000369049.4_Missense_Mutation_p.T4R|ECM1_ENST00000346569.6_Missense_Mutation_p.T4R|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	4					angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			ATGGGGACCACAGCCAGAGCA	0.597																																					Melanoma(156;1696 2560 11093 19685)	uc001eus.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(10-12)ACA>AGA		extracellular matrix protein 1 isoform 1							119.0	100.0	106.0					1																	150480696		2203	4300	6503	SO:0001583	missense	1893				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	g.chr1:150480696C>G	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.11C>G	1.37:g.150480696C>G	ENSP00000358043:p.Thr4Arg					ECM1_uc010pce.1_5'UTR|ECM1_uc010pcf.1_5'UTR|ECM1_uc001eut.2_Missense_Mutation_p.T4R|ECM1_uc001euu.2_Missense_Mutation_p.T4R|ECM1_uc001euv.2_Missense_Mutation_p.T4R|ECM1_uc009wlu.2_5'UTR	p.T4R	NM_004425	NP_004416	Q16610	ECM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		1	210	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		4					A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	ENST00000369047.4	37	c.11C>G	CCDS953.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.260652	0.23051	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	T;T;T	0.75589	-0.95;-0.95;-0.95	4.45	-0.595	0.11660	.	0.819329	0.10521	N	0.664961	T	0.44561	0.1299	L	0.29908	0.895	0.09310	N	1	P;P;P;P	0.43094	0.787;0.714;0.799;0.714	B;B;B;B	0.42163	0.363;0.378;0.295;0.378	T	0.33929	-0.9849	10	0.66056	D	0.02	4.2424	7.3229	0.26539	0.0:0.5045:0.0:0.4955	.	4;4;4;4	Q16610-4;C8CHS3;Q16610-2;Q16610	.;.;.;ECM1_HUMAN	R	4	ENSP00000358045:T4R;ENSP00000358043:T4R;ENSP00000271630:T4R	ENSP00000271630:T4R	T	+	2	0	ECM1	148747320	0.000000	0.05858	0.003000	0.11579	0.023000	0.10783	-0.447000	0.06828	-0.013000	0.14199	-0.367000	0.07326	ACA		0.597	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425		28	55	0	0	0	0	28	55				
HRNR	388697	broad.mit.edu	37	1	152188242	152188242	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:152188242C>A	ENST00000368801.2	-	3	5938	c.5863G>T	c.(5863-5865)Ggg>Tgg	p.G1955W	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1955					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAACCAGACCCATGTCGGCCA	0.617																																						uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(5863-5865)GGG>TGG		hornerin							235.0	404.0	347.0					1																	152188242		2165	4288	6453	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188242C>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5863G>T	1.37:g.152188242C>A	ENSP00000357791:p.Gly1955Trp						p.G1955W	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5939	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1955			22		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.5863G>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	3.891	-0.023987	0.07634	.	.	ENSG00000197915	ENST00000368801	T	0.02050	4.48	2.63	1.68	0.24146	.	.	.	.	.	T	0.03477	0.0100	L	0.61218	1.895	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.37361	-0.9709	9	0.66056	D	0.02	.	7.2367	0.26074	0.0:0.8521:0.0:0.1479	.	1955	Q86YZ3	HORN_HUMAN	W	1955	ENSP00000357791:G1955W	ENSP00000357791:G1955W	G	-	1	0	HRNR	150454866	0.000000	0.05858	0.003000	0.11579	0.081000	0.17604	-0.100000	0.10990	0.412000	0.25729	0.456000	0.33151	GGG		0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		9	750	1	0	0.00621372	0.00844057	9	750				
FLG	2312	broad.mit.edu	37	1	152275869	152275869	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:152275869A>T	ENST00000368799.1	-	3	11528	c.11493T>A	c.(11491-11493)caT>caA	p.H3831Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3831	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGAAGCTTCATGGTGACGCG	0.587									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(11491-11493)CAT>CAA		filaggrin							276.0	277.0	277.0					1																	152275869		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275869A>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11493T>A	1.37:g.152275869A>T	ENSP00000357789:p.His3831Gln						p.H3831Q	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11529	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3831			Filaggrin 23.|Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11493T>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	A	9.221	1.033288	0.19590	.	.	ENSG00000143631	ENST00000368799	T	0.01647	4.71	2.52	-5.05	0.02955	.	.	.	.	.	T	0.00724	0.0024	N	0.16790	0.44	0.09310	N	1	D	0.54772	0.968	D	0.70016	0.967	T	0.35400	-0.9790	9	0.16420	T	0.52	.	1.5792	0.02631	0.1559:0.4501:0.1915:0.2025	.	3831	P20930	FILA_HUMAN	Q	3831	ENSP00000357789:H3831Q	ENSP00000357789:H3831Q	H	-	3	2	FLG	150542493	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.280000	0.02804	-1.430000	0.01985	-1.285000	0.01374	CAT		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		100	340	0	0	0	0	100	340				
S100A7	6278	broad.mit.edu	37	1	153430420	153430420	+	Silent	SNP	G	G	T	rs373686384		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:153430420G>T	ENST00000368723.3	-	3	278	c.168C>A	c.(166-168)gcC>gcA	p.A56A	S100A7_ENST00000368722.1_Silent_p.A56A	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	56	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				angiogenesis (GO:0001525)|defense response to Gram-negative bacterium (GO:0050829)|epidermis development (GO:0008544)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of T cell chemotaxis (GO:0010820)|response to lipopolysaccharide (GO:0032496)|response to reactive oxygen species (GO:0000302)|sequestering of metal ion (GO:0051238)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAAGACATCGGCGAGGTAAT	0.413																																						uc001fbv.1		NA																	0				skin(1)	1						c.(166-168)GCC>GCA		S100 calcium binding protein A7							91.0	84.0	86.0					1																	153430420		2203	4300	6503	SO:0001819	synonymous_variant	6278				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding	g.chr1:153430420G>T	BC034687	CCDS1039.1	1q21	2013-01-10	2006-09-11		ENSG00000143556	ENSG00000143556		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10497	protein-coding gene	gene with protein product		600353	"""S100 calcium-binding protein A7 (psoriasin 1)"", ""S100 calcium binding protein A7 (psoriasin 1)"""	PSOR1		1940442	Standard	NM_002963		Approved	S100A7c	uc001fbv.1	P31151	OTTHUMG00000013123	ENST00000368723.3:c.168C>A	1.37:g.153430420G>T							p.A56A	NM_002963	NP_002954	P31151	S10A7_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	239	-	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		56			EF-hand 2.		Q5SY67|Q6FGE3|Q9H1E2	Silent	SNP	ENST00000368723.3	37	c.168C>A	CCDS1039.1																																																																																				0.413	S100A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036789.1	NM_002963		19	51	1	0	3.52e-12	5.95e-12	19	51				
FMO3	2328	broad.mit.edu	37	1	171077253	171077253	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:171077253G>T	ENST00000367755.4	+	5	629	c.518G>T	c.(517-519)aGc>aTc	p.S173I	FMO3_ENST00000392085.2_Missense_Mutation_p.S173I|FMO3_ENST00000542847.1_Missense_Mutation_p.S153I|FMO3_ENST00000538429.1_Missense_Mutation_p.S110I	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	173					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TGCTTCCACAGCAGGGACTAT	0.438																																						uc001ghi.2		NA																	0				skin(1)	1						c.(517-519)AGC>ATC		flavin containing monooxygenase 3							126.0	133.0	131.0					1																	171077253		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171077253G>T	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.518G>T	1.37:g.171077253G>T	ENSP00000356729:p.Ser173Ile					FMO3_uc001ghh.2_Missense_Mutation_p.S173I|FMO3_uc010pmb.1_Missense_Mutation_p.S153I|FMO3_uc010pmc.1_Missense_Mutation_p.S110I	p.S173I	NM_001002294	NP_001002294	P31513	FMO3_HUMAN			5	629	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		173					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.518G>T	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.850635	0.91277	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	5.08	5.08	0.68730	.	0.039893	0.85682	D	0.000000	T	0.80999	0.4732	M	0.90595	3.13	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.992;0.995;0.996	D	0.85506	0.1194	10	0.87932	D	0	-23.317	18.0577	0.89368	0.0:0.0:1.0:0.0	.	110;153;173	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	I	173;173;153;110	ENSP00000356729:S173I;ENSP00000375935:S173I;ENSP00000444073:S153I;ENSP00000439500:S110I	ENSP00000356729:S173I	S	+	2	0	FMO3	169343877	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.864000	0.99589	2.322000	0.78497	0.563000	0.77884	AGC		0.438	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		29	57	1	0	3.73e-12	6.31e-12	29	57				
FMO2	2327	broad.mit.edu	37	1	171168602	171168602	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:171168602T>G	ENST00000209929.7	+	5	760	c.602T>G	c.(601-603)gTt>gGt	p.V201G	RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_Intron|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000441535.1_Missense_Mutation_p.V201G|RP1-127D3.4_ENST00000422841.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	201					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GATATTGCTGTTGAGCTGAGT	0.498																																						uc001ghk.1		NA																	0				skin(1)	1						c.(601-603)GTT>GGT		flavin containing monooxygenase 2							138.0	143.0	141.0					1																	171168602		2203	4300	6503	SO:0001583	missense	2327				drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171168602T>G	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.602T>G	1.37:g.171168602T>G	ENSP00000209929:p.Val201Gly					FMO2_uc010pmd.1_Intron	p.V201G	NM_001460	NP_001451	Q99518	FMO2_HUMAN			5	719	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		201					Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	c.602T>G	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	T	18.28	3.588672	0.66105	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.57107	0.42;0.42	6.17	4.95	0.65309	.	0.229826	0.43919	D	0.000507	T	0.54319	0.1851	M	0.79475	2.455	0.53688	D	0.999972	P	0.45569	0.861	P	0.56216	0.794	T	0.60647	-0.7222	10	0.54805	T	0.06	-6.2107	7.7025	0.28632	0.0:0.213:0.0:0.787	.	201	Q99518	FMO2_HUMAN	G	201	ENSP00000209929:V201G;ENSP00000405905:V201G	ENSP00000209929:V201G	V	+	2	0	FMO2	169435226	0.998000	0.40836	0.005000	0.12908	0.918000	0.54935	2.790000	0.47821	1.002000	0.39104	0.533000	0.62120	GTT		0.498	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		15	89	0	0	0	0	15	89				
TDRD5	163589	broad.mit.edu	37	1	179620116	179620116	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:179620116A>G	ENST00000367614.1	+	12	2274	c.1915A>G	c.(1915-1917)Aca>Gca	p.T639A	TDRD5_ENST00000294848.8_Missense_Mutation_p.T639A|TDRD5_ENST00000444136.1_Missense_Mutation_p.T639A	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	639					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTTGTGTGACACATCCTCAAA	0.418																																						uc001gnf.1		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1915-1917)ACA>GCA		tudor domain containing 5							188.0	176.0	180.0					1																	179620116		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179620116A>G	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1915A>G	1.37:g.179620116A>G	ENSP00000356586:p.Thr639Ala					TDRD5_uc010pnp.1_Missense_Mutation_p.T639A|TDRD5_uc001gnh.1_Missense_Mutation_p.T194A	p.T639A	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			12	2165	+			639					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.1915A>G	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.370833	0.82573	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.36878	2.38;2.38;2.55;1.23	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.57710	0.2072	M	0.66939	2.045	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.57522	-0.7797	10	0.45353	T	0.12	-34.0843	13.7215	0.62730	1.0:0.0:0.0:0.0	.	639;639	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	A	639;639;639;95	ENSP00000356586:T639A;ENSP00000294848:T639A;ENSP00000406052:T639A;ENSP00000410744:T95A	ENSP00000294848:T639A	T	+	1	0	TDRD5	177886739	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.661000	0.68025	2.254000	0.74563	0.533000	0.62120	ACA		0.418	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		23	67	0	0	0	0	23	67				
BRINP3	339479	broad.mit.edu	37	1	190250824	190250824	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:190250824C>A	ENST00000367462.3	-	3	524	c.293G>T	c.(292-294)gGc>gTc	p.G98V	BRINP3_ENST00000534846.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	98	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.G98V(1)									CAGAGGAGAGCCAAGGAAATT	0.393																																						uc001gse.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(292-294)GGC>GTC		family with sequence similarity 5, member C							82.0	79.0	80.0					1																	190250824		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190250824C>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.293G>T	1.37:g.190250824C>A	ENSP00000356432:p.Gly98Val					FAM5C_uc010pot.1_Intron	p.G98V	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			3	525	-	Prostate(682;0.198)		98					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.293G>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768988	0.49680	.	.	ENSG00000162670	ENST00000367462	D	0.83992	-1.79	5.88	5.88	0.94601	Membrane attack complex component/perforin (MACPF) domain (2);	0.062084	0.64402	D	0.000003	D	0.82508	0.5052	L	0.44542	1.39	0.80722	D	1	P	0.48998	0.918	P	0.46718	0.525	T	0.83237	-0.0060	10	0.52906	T	0.07	.	17.7103	0.88319	0.0:1.0:0.0:0.0	.	98	Q76B58	FAM5C_HUMAN	V	98	ENSP00000356432:G98V	ENSP00000356432:G98V	G	-	2	0	FAM5C	188517447	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.895000	0.56258	2.787000	0.95880	0.585000	0.79938	GGC		0.393	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		20	23	1	0	4.97e-08	7.85e-08	20	23				
PIGR	5284	broad.mit.edu	37	1	207105832	207105832	+	Silent	SNP	C	C	A	rs377552062		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:207105832C>A	ENST00000356495.4	-	8	2160	c.1977G>T	c.(1975-1977)ggG>ggT	p.G659G	PIGR_ENST00000487208.1_5'Flank	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	659					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTCTGGCCACCCCCACAGCCA	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		15922	0.001		0.0	False		,,,				2504	0.0					uc001hez.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1975-1977)GGG>GGT		polymeric immunoglobulin receptor precursor		C		1,4405	2.1+/-5.4	0,1,2202	61.0	64.0	63.0		1977	-4.6	0.0	1		63	0,8600		0,0,4300	no	coding-synonymous	PIGR	NM_002644.3		0,1,6502	AA,AC,CC		0.0,0.0227,0.0077		659/765	207105832	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207105832C>A		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.1977G>T	1.37:g.207105832C>A						PIGR_uc009xbz.2_Silent_p.G659G	p.G659G	NM_002644	NP_002635	P01833	PIGR_HUMAN			8	2161	-			659			Helical; (Potential).		Q68D81|Q8IZY7	Silent	SNP	ENST00000356495.4	37	c.1977G>T	CCDS1474.1																																																																																				0.647	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		19	82	1	0	2.35e-11	3.94e-11	19	82				
CR2	1380	broad.mit.edu	37	1	207648236	207648236	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:207648236T>A	ENST00000367058.3	+	13	2403	c.2214T>A	c.(2212-2214)ttT>ttA	p.F738L	CR2_ENST00000367057.3_Missense_Mutation_p.F797L|CR2_ENST00000367059.3_Missense_Mutation_p.F738L|CR2_ENST00000458541.2_Missense_Mutation_p.F711L	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	738	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CAGAAAACTTTCTATATGGAA	0.418																																						uc001hfw.2		NA																	0				upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.(2212-2214)TTT>TTA		complement component (3d/Epstein Barr virus)							87.0	97.0	94.0					1																	207648236		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207648236T>A	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2214T>A	1.37:g.207648236T>A	ENSP00000356025:p.Phe738Leu					CR2_uc001hfv.2_Missense_Mutation_p.F797L|CR2_uc009xch.2_Missense_Mutation_p.F738L	p.F738L	NM_001877	NP_001868	P20023	CR2_HUMAN			13	2308	+			738			Sushi 12.|Extracellular (Potential).		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.2214T>A	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.500873	0.85176	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	4.81	2.0	0.26442	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.77731	0.4174	M	0.73430	2.235	0.23869	N	0.996614	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.986	T	0.63800	-0.6555	9	0.72032	D	0.01	.	6.2632	0.20912	0.0:0.2789:0.0:0.7211	.	738;738;797	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	L	738;797;738;711	ENSP00000356025:F738L;ENSP00000356024:F797L;ENSP00000356026:F738L;ENSP00000404222:F711L	ENSP00000356024:F797L	F	+	3	2	CR2	205714859	0.105000	0.21958	0.061000	0.19648	0.666000	0.39218	0.285000	0.18883	0.254000	0.21573	0.533000	0.62120	TTT		0.418	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		24	83	0	0	0	0	24	83				
FAM71A	149647	broad.mit.edu	37	1	212799980	212799980	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:212799980G>T	ENST00000294829.3	+	1	2192	c.1761G>T	c.(1759-1761)gaG>gaT	p.E587D	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	587						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		ACATCATGGAGACAGTGACCT	0.567																																						uc001hjk.2		NA																	0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(1759-1761)GAG>GAT		hypothetical protein LOC149647							83.0	92.0	89.0					1																	212799980		2203	4300	6503	SO:0001583	missense	149647							g.chr1:212799980G>T		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.1761G>T	1.37:g.212799980G>T	ENSP00000294829:p.Glu587Asp					uc010pth.1_RNA	p.E587D	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	2165	+			587					Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	37	c.1761G>T	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413315	0.42817	.	.	ENSG00000162771	ENST00000294829;ENST00000545975	T	0.05139	3.49	3.96	3.96	0.45880	.	.	.	.	.	T	0.17662	0.0424	L	0.48877	1.53	0.28644	N	0.907017	D	0.76494	0.999	D	0.78314	0.991	T	0.01078	-1.1459	9	0.59425	D	0.04	-20.3491	11.8243	0.52259	0.0:0.0:1.0:0.0	.	587	Q8IYT1	FA71A_HUMAN	D	587;362	ENSP00000294829:E587D	ENSP00000294829:E587D	E	+	3	2	FAM71A	210866603	0.730000	0.28100	0.624000	0.29186	0.017000	0.09413	1.054000	0.30455	2.516000	0.84829	0.498000	0.49722	GAG		0.567	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		27	112	1	0	3.65e-15	6.48e-15	27	112				
USH2A	7399	broad.mit.edu	37	1	216062110	216062110	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:216062110G>C	ENST00000307340.3	-	41	8267	c.7881C>G	c.(7879-7881)atC>atG	p.I2627M	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.I2627M	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2627	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.I2627M(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGGACTTGGGATCCCTTCCG	0.498										HNSCC(13;0.011)																												uc001hku.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(7879-7881)ATC>ATG		usherin isoform B							79.0	83.0	81.0					1																	216062110		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216062110G>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7881C>G	1.37:g.216062110G>C	ENSP00000305941:p.Ile2627Met	HNSCC(13;0.011)					p.I2627M	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	41	8268	-			2627			Extracellular (Potential).|Fibronectin type-III 13.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.7881C>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177320	0.38413	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54279	0.58;0.58	5.84	3.67	0.42095	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.43579	D	0.000551	T	0.66636	0.2809	M	0.79475	2.455	0.32924	D	0.516184	D	0.76494	0.999	D	0.68192	0.956	T	0.73678	-0.3907	10	0.49607	T	0.09	.	6.7532	0.23499	0.3445:0.0:0.6555:0.0	.	2627	O75445	USH2A_HUMAN	M	2627	ENSP00000305941:I2627M;ENSP00000355910:I2627M	ENSP00000305941:I2627M	I	-	3	3	USH2A	214128733	1.000000	0.71417	0.138000	0.22173	0.183000	0.23260	1.820000	0.39032	1.478000	0.48253	-0.137000	0.14449	ATC		0.498	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		17	52	0	0	0	0	17	52				
OBSCN	84033	broad.mit.edu	37	1	228554824	228554824	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:228554824G>T	ENST00000422127.1	+	86	19620	c.19576G>T	c.(19576-19578)Ggg>Tgg	p.G6526W	OBSCN_ENST00000366707.4_Missense_Mutation_p.G4160W|OBSCN_ENST00000570156.2_Missense_Mutation_p.G7483W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6526	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGGTCACGGGGCTGCTGGA	0.652																																						uc009xez.1		NA																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(19576-19578)GGG>TGG		obscurin, cytoskeletal calmodulin and							36.0	40.0	38.0					1																	228554824		2071	4200	6271	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228554824G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.19576G>T	1.37:g.228554824G>T	ENSP00000409493:p.Gly6526Trp					OBSCN_uc001hsr.1_Missense_Mutation_p.G1155W	p.G6526W	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			86	19620	+		Prostate(94;0.0405)	6526			Protein kinase 1.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.19576G>T	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.97|18.97	3.736570|3.736570	0.69304|0.69304	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000422127;ENST00000366707	.|T;T	.|0.40756	.|1.02;1.02	4.83|4.83	-1.45|-1.45	0.08828|0.08828	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.733013|0.733013	0.11816|0.11816	N|N	0.526718|0.526718	T|T	0.45377|0.45377	0.1339|0.1339	M|M	0.71206|0.71206	2.165|2.165	0.09310|0.09310	N|N	1|1	.|D	.|0.63880	.|0.993	.|P	.|0.54372	.|0.75	T|T	0.33189|0.33189	-0.9878|-0.9878	6|10	.|0.38643	.|T	.|0.18	.|.	2.1379|2.1379	0.03767|0.03767	0.4033:0.3137:0.1714:0.1117|0.4033:0.3137:0.1714:0.1117	.|.	.|6526	.|Q5VST9	.|OBSCN_HUMAN	V|W	1142|6526;4160	.|ENSP00000409493:G6526W;ENSP00000355668:G4160W	.|ENSP00000355668:G4160W	G|G	+|+	2|1	0|0	OBSCN|OBSCN	226621447|226621447	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.937000|0.937000	0.57800|0.57800	0.140000|0.140000	0.16056|0.16056	-0.084000|-0.084000	0.12595|0.12595	0.591000|0.591000	0.81541|0.81541	GGG|GGG		0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	15	1	0	3.6e-05	5.22e-05	4	15				
KIAA1804	84451	broad.mit.edu	37	1	233482322	233482322	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:233482322G>A	ENST00000366624.3	+	2	1201	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	MLK4_ENST00000366623.3_Missense_Mutation_p.E314K	NM_032435.2	NP_115811.2												p.E314K(1)									GATGGCCCCCGAAGTGATCAA	0.473																																						uc001hvt.3		NA																	1	Substitution - Missense(1)		large_intestine(1)	lung(5)|central_nervous_system(2)|skin(1)	8						c.(940-942)GAA>AAA		mixed lineage kinase 4							83.0	79.0	80.0					1																	233482322		2203	4300	6503	SO:0001583	missense	84451				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity	g.chr1:233482322G>A																												ENST00000366624.3:c.940G>A	1.37:g.233482322G>A	ENSP00000355583:p.Glu314Lys					KIAA1804_uc001hvs.1_Missense_Mutation_p.E314K	p.E314K	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN			2	1201	+		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)	314			Protein kinase.			Missense_Mutation	SNP	ENST00000366624.3	37	c.940G>A	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	G	34	5.397107	0.96009	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	D;D	0.97529	-4.42;-4.42	4.49	4.49	0.54785	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99248	0.9738	H	0.99454	4.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98425	1.0579	10	0.87932	D	0	.	17.3738	0.87386	0.0:0.0:1.0:0.0	.	314;314	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	K	314	ENSP00000355582:E314K;ENSP00000355583:E314K	ENSP00000355582:E314K	E	+	1	0	RP5-862P8.2	231548945	1.000000	0.71417	0.894000	0.35097	0.978000	0.69477	9.648000	0.98483	2.319000	0.78375	0.563000	0.77884	GAA		0.473	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			5	26	0	0	0	0	5	26				
RYR2	6262	broad.mit.edu	37	1	237796940	237796940	+	Silent	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:237796940A>T	ENST00000366574.2	+	43	6935	c.6618A>T	c.(6616-6618)atA>atT	p.I2206I	RYR2_ENST00000360064.6_Silent_p.I2204I|RYR2_ENST00000542537.1_Silent_p.I2190I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2206	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTGTCGTATAAGTAGGCAGA	0.373																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(6616-6618)ATA>ATT		cardiac muscle ryanodine receptor							211.0	200.0	203.0					1																	237796940		1853	4096	5949	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237796940A>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6618A>T	1.37:g.237796940A>T							p.I2206I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		43	6738	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2206			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.6618A>T	CCDS55691.1																																																																																				0.373	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		49	125	0	0	0	0	49	125				
KIF26B	55083	broad.mit.edu	37	1	245530230	245530230	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:245530230G>C	ENST00000407071.2	+	3	1000	c.560G>C	c.(559-561)tGc>tCc	p.C187S	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	187					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGTGACATTTGCGCCACTCAC	0.602																																						uc001ibf.1		NA																	0				ovary(3)	3						c.(559-561)TGC>TCC		kinesin family member 26B							53.0	56.0	55.0					1																	245530230		2179	4266	6445	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245530230G>C	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.560G>C	1.37:g.245530230G>C	ENSP00000385545:p.Cys187Ser					KIF26B_uc010pyq.1_Missense_Mutation_p.C187S|KIF26B_uc010pyr.1_5'UTR	p.C187S	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		3	1000	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		187					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.560G>C	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914123	0.72983	.	.	ENSG00000162849	ENST00000407071	D	0.91237	-2.81	5.44	5.44	0.79542	.	.	.	.	.	D	0.95354	0.8492	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95418	0.8504	9	0.87932	D	0	.	19.6436	0.95767	0.0:0.0:1.0:0.0	.	187	Q2KJY2	KI26B_HUMAN	S	187	ENSP00000385545:C187S	ENSP00000385545:C187S	C	+	2	0	KIF26B	243596853	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.420000	0.97426	2.712000	0.92718	0.650000	0.86243	TGC		0.602	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		8	34	0	0	0	0	8	34				
ZNF670	93474	broad.mit.edu	37	1	247200823	247200823	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:247200823T>A	ENST00000366503.2	-	4	1256	c.1098A>T	c.(1096-1098)gaA>gaT	p.E366D		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			ATTTCTTACATTCATAGGGTT	0.403																																						uc001icd.1		NA																	0				ovary(1)	1						c.(1096-1098)GAA>GAT		zinc finger protein 670							89.0	87.0	87.0					1																	247200823		2203	4300	6503	SO:0001583	missense	93474				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247200823T>A		CCDS31087.1	1q44	2013-01-08			ENSG00000135747	ENSG00000135747		"""Zinc fingers, C2H2-type"", ""-"""	28167	protein-coding gene	gene with protein product						12477932	Standard	NM_033213		Approved	MGC12466	uc001icd.2	Q9BS34	OTTHUMG00000040868	ENST00000366503.2:c.1098A>T	1.37:g.247200823T>A	ENSP00000355459:p.Glu366Asp					ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron	p.E366D	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00427)		4	1269	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	366			C2H2-type 9; degenerate.			Missense_Mutation	SNP	ENST00000366503.2	37	c.1098A>T	CCDS31087.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.012117	0.35511	.	.	ENSG00000135747	ENST00000366503	T	0.22134	1.97	0.641	0.641	0.17759	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16041	0.0386	L	0.45051	1.395	0.09310	N	0.999996	B	0.14805	0.011	B	0.19666	0.026	T	0.30851	-0.9964	9	0.66056	D	0.02	.	3.4474	0.07486	1.0E-4:0.0:0.432:0.5679	.	366	Q9BS34	ZN670_HUMAN	D	366	ENSP00000355459:E366D	ENSP00000355459:E366D	E	-	3	2	ZNF670	245267446	0.000000	0.05858	0.757000	0.31301	0.676000	0.39594	-2.497000	0.00969	0.508000	0.28173	0.383000	0.25322	GAA		0.403	ZNF670-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098183.3	NM_033213		28	68	0	0	0	0	28	68				
NLRP3	114548	broad.mit.edu	37	1	247587342	247587342	+	Silent	SNP	C	C	T	rs3806267		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr1:247587342C>T	ENST00000336119.3	+	3	1343	c.597C>T	c.(595-597)ccC>ccT	p.P199P	NLRP3_ENST00000366497.2_Silent_p.P199P|NLRP3_ENST00000391827.2_Silent_p.P199P|NLRP3_ENST00000348069.2_Silent_p.P199P|NLRP3_ENST00000366496.2_Silent_p.P199P|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Silent_p.P199P	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	199					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTGAGAGCCCCGTGAGTCCCA	0.582																																						uc001icr.2		NA																	0				lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(595-597)CCC>CCT		NLR family, pyrin domain containing 3 isoform a							78.0	69.0	72.0					1																	247587342		2203	4300	6503	SO:0001819	synonymous_variant	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587342C>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.597C>T	1.37:g.247587342C>T						NLRP3_uc001ics.2_Silent_p.P199P|NLRP3_uc001icu.2_Silent_p.P199P|NLRP3_uc001icw.2_Silent_p.P199P|NLRP3_uc001icv.2_Silent_p.P199P|NLRP3_uc010pyw.1_Silent_p.P197P|NLRP3_uc001ict.1_Silent_p.P197P	p.P199P	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	735	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	199					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	c.597C>T	CCDS1632.1																																																																																				0.582	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		21	26	0	0	0	0	21	26				
SFMBT2	57713	broad.mit.edu	37	10	7409710	7409710	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:7409710C>T	ENST00000361972.4	-	4	427	c.337G>A	c.(337-339)Gag>Aag	p.E113K	SFMBT2_ENST00000397160.3_Missense_Mutation_p.E113K|SFMBT2_ENST00000379711.2_Missense_Mutation_p.E113K|SFMBT2_ENST00000379713.3_Missense_Mutation_p.E113K|SFMBT2_ENST00000397167.1_Missense_Mutation_p.E113K	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	113					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTGCGGTCCTCCCCGTAACCG	0.597																																						uc009xio.1		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(337-339)GAG>AAG		Scm-like with four mbt domains 2							80.0	76.0	78.0					10																	7409710		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7409710C>T	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.337G>A	10.37:g.7409710C>T	ENSP00000355109:p.Glu113Lys					SFMBT2_uc001ijn.1_Missense_Mutation_p.E113K|SFMBT2_uc010qay.1_Missense_Mutation_p.E113K|SFMBT2_uc001ijo.1_Missense_Mutation_p.E113K	p.E113K	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			4	428	-			113			MBT 1.		A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.337G>A	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	C	35	5.592354	0.96590	.	.	ENSG00000198879	ENST00000361972;ENST00000397167;ENST00000379713;ENST00000379711;ENST00000397160	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	4.65	4.65	0.58169	.	0.112559	0.64402	D	0.000017	T	0.47303	0.1438	M	0.76328	2.33	0.58432	D	0.999996	P;P	0.50156	0.932;0.689	P;B	0.51657	0.676;0.37	T	0.47535	-0.9110	10	0.36615	T	0.2	.	17.4956	0.87716	0.0:1.0:0.0:0.0	.	113;113	Q5T981;Q5VUG0	.;SMBT2_HUMAN	K	113	ENSP00000355109:E113K;ENSP00000380353:E113K;ENSP00000369035:E113K;ENSP00000369033:E113K;ENSP00000380346:E113K	ENSP00000355109:E113K	E	-	1	0	SFMBT2	7449716	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.899000	0.69846	2.289000	0.77006	0.305000	0.20034	GAG		0.597	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		11	26	0	0	0	0	11	26				
SFMBT2	57713	broad.mit.edu	37	10	7409747	7409747	+	Missense_Mutation	SNP	G	G	C	rs190186950	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:7409747G>C	ENST00000361972.4	-	4	390	c.300C>G	c.(298-300)tgC>tgG	p.C100W	SFMBT2_ENST00000397160.3_Missense_Mutation_p.C100W|SFMBT2_ENST00000379711.2_Missense_Mutation_p.C100W|SFMBT2_ENST00000379713.3_Missense_Mutation_p.C100W|SFMBT2_ENST00000397167.1_Missense_Mutation_p.C100W	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	100					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GCAGCTGCCCGCACGTGGTAA	0.567																																						uc009xio.1		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(298-300)TGC>TGG		Scm-like with four mbt domains 2							86.0	83.0	84.0					10																	7409747		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7409747G>C	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.300C>G	10.37:g.7409747G>C	ENSP00000355109:p.Cys100Trp					SFMBT2_uc001ijn.1_Missense_Mutation_p.C100W|SFMBT2_uc010qay.1_Missense_Mutation_p.C100W|SFMBT2_uc001ijo.1_Missense_Mutation_p.C100W	p.C100W	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			4	391	-			100			MBT 1.		A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.300C>G	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611441	0.46631	.	.	ENSG00000198879	ENST00000361972;ENST00000397167;ENST00000379713;ENST00000379711;ENST00000397160	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	4.79	-3.03	0.05429	.	0.000000	0.85682	D	0.000000	T	0.55000	0.1893	M	0.88031	2.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.57347	-0.7827	10	0.51188	T	0.08	.	12.5107	0.56003	0.5707:0.0:0.4293:0.0	.	100;100	Q5T981;Q5VUG0	.;SMBT2_HUMAN	W	100	ENSP00000355109:C100W;ENSP00000380353:C100W;ENSP00000369035:C100W;ENSP00000369033:C100W;ENSP00000380346:C100W	ENSP00000355109:C100W	C	-	3	2	SFMBT2	7449753	0.002000	0.14202	0.897000	0.35233	0.735000	0.41995	-1.215000	0.02985	-0.938000	0.03714	-0.786000	0.03341	TGC		0.567	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		6	26	0	0	0	0	6	26				
ZNF33B	7582	broad.mit.edu	37	10	43089499	43089499	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:43089499T>C	ENST00000359467.3	-	5	1013	c.899A>G	c.(898-900)cAc>cGc	p.H300R	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	300					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						ACAATCATAGTGTTTCACAGG	0.383																																					Melanoma(137;1247 1767 16772 25727 43810)	uc001jaf.1		NA																	0					0						c.(898-900)CAC>CGC		zinc finger protein 33B							110.0	108.0	109.0					10																	43089499		2203	4300	6503	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43089499T>C	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.899A>G	10.37:g.43089499T>C	ENSP00000352444:p.His300Arg					ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.H188R|ZNF33B_uc001jad.2_Intron	p.H300R	NM_006955	NP_008886	Q06732	ZN33B_HUMAN			5	1014	-			300					Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.899A>G	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	T	5.117	0.207174	0.09704	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.14391	2.51	2.28	-0.293	0.12835	.	0.935575	0.08758	N	0.898119	T	0.06462	0.0166	N	0.10972	0.075	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38156	-0.9674	10	0.62326	D	0.03	.	2.5879	0.04835	0.0:0.172:0.286:0.542	.	300	Q06732	ZN33B_HUMAN	R	300;266	ENSP00000352444:H300R	ENSP00000352444:H300R	H	-	2	0	ZNF33B	42409505	0.001000	0.12720	0.001000	0.08648	0.084000	0.17831	0.626000	0.24492	-0.054000	0.13266	0.341000	0.21757	CAC		0.383	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		23	57	0	0	0	0	23	57				
ZFAND4	93550	broad.mit.edu	37	10	46121668	46121668	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:46121668C>A	ENST00000344646.5	-	7	1818	c.1603G>T	c.(1603-1605)Ggg>Tgg	p.G535W	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374366.3_Missense_Mutation_p.G461W|ZFAND4_ENST00000374371.2_Intron	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	535							zinc ion binding (GO:0008270)										GATCTTTTCCCAAGTGAATCA	0.388																																						uc001jcp.3		NA																	0					0						c.(1603-1605)GGG>TGG		AN1, ubiquitin-like, homolog							81.0	84.0	83.0					10																	46121668		2203	4300	6503	SO:0001583	missense	93550						zinc ion binding	g.chr10:46121668C>A	AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.1603G>T	10.37:g.46121668C>A	ENSP00000339484:p.Gly535Trp					ANUBL1_uc001jcl.3_Missense_Mutation_p.G55W|ANUBL1_uc001jcm.3_Missense_Mutation_p.G535W|ANUBL1_uc009xmu.2_Missense_Mutation_p.G461W|ANUBL1_uc001jcn.3_Missense_Mutation_p.G461W|ANUBL1_uc001jco.3_Intron	p.G535W	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN			7	1845	-			535					A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	ENST00000344646.5	37	c.1603G>T	CCDS7214.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154949	0.78114	.	.	ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370	T;T	0.35236	1.32;1.36	5.73	5.73	0.89815	.	2.811830	0.02391	N	0.079710	T	0.67933	0.2946	M	0.71581	2.175	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	T	0.45249	-0.9274	10	0.87932	D	0	-18.7904	17.3955	0.87444	0.0:1.0:0.0:0.0	.	535	Q86XD8	ANUB1_HUMAN	W	535;461;417	ENSP00000339484:G535W;ENSP00000363486:G461W	ENSP00000339484:G535W	G	-	1	0	ANUBL1	45441674	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.398000	0.59697	2.707000	0.92482	0.561000	0.74099	GGG		0.388	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		20	72	1	0	8.34e-07	1.27e-06	20	72				
NPY4R	5540	broad.mit.edu	37	10	47087815	47087815	+	Silent	SNP	C	C	G	rs142467576		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:47087815C>G	ENST00000395716.1	+	2	1117	c.1032C>G	c.(1030-1032)gcC>gcG	p.A344A	NPY4R_ENST00000374312.1_Silent_p.A344A			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	344					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										AGCAGAGCGCCCCCCTGGAGG	0.562																																						uc001jee.2		NA																	0				ovary(1)|skin(1)	2						c.(1030-1032)GCC>GCG		pancreatic polypeptide receptor 1							126.0	128.0	127.0					10																	47087815		2203	4300	6503	SO:0001819	synonymous_variant	5540				blood circulation|digestion|feeding behavior	integral to plasma membrane		g.chr10:47087815C>G		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.1032C>G	10.37:g.47087815C>G						ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Silent_p.A344A	p.A344A	NM_005972	NP_005963	P50391	NPY4R_HUMAN			3	1451	+			344			Cytoplasmic (Potential).		Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	c.1032C>G	CCDS31193.1																																																																																				0.562	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			17	82	0	0	0	0	17	82				
PCDH15	65217	broad.mit.edu	37	10	55568470	55568470	+	Silent	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:55568470A>T	ENST00000395445.1	-	36	5734	c.5340T>A	c.(5338-5340)ggT>ggA	p.G1780G	PCDH15_ENST00000395446.1_Silent_p.G976G|PCDH15_ENST00000395442.1_Silent_p.G645G|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Silent_p.G714G	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTGTGTTGTAACCTTCAGAGT	0.483										HNSCC(58;0.16)																												uc010qhs.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(5353-5355)GGT>GGA		protocadherin 15 isoform CD2-1 precursor							62.0	54.0	56.0					10																	55568470		1568	3582	5150	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55568470A>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.5340T>A	10.37:g.55568470A>T		HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Silent_p.G1778G|PCDH15_uc010qhu.1_3'UTR	p.G1785G	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN			37	5750	-		Melanoma(3;0.117)|Lung SC(717;0.238)	Error:Variant_position_missing_in_Q96QU1_after_alignment					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000395445.1	37	c.5355T>A																																																																																					0.483	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291335.1	NM_033056		6	19	0	0	0	0	6	19				
ANK3	288	broad.mit.edu	37	10	61830610	61830610	+	Silent	SNP	T	T	C	rs201376469		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:61830610T>C	ENST00000280772.2	-	37	10220	c.10029A>G	c.(10027-10029)caA>caG	p.Q3343Q	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3343					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTTTTTCTTTTTGTTCATCGT	0.403													t|||	1	0.000199681	0.0	0.0014	5008	,	,		20489	0.0		0.0	False		,,,				2504	0.0					uc001jky.2		NA																	0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(10027-10029)CAA>CAG		ankyrin 3 isoform 1		C	,,,	0,4406		0,0,2203	143.0	143.0	143.0		,,,10029	-4.1	0.9	10		143	2,8598	2.2+/-6.3	0,2,4298	no	intron,intron,intron,coding-synonymous	ANK3	NM_001149.3,NM_001204403.1,NM_001204404.1,NM_020987.3	,,,	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	,,,	,,,3343/4378	61830610	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61830610T>C	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.10029A>G	10.37:g.61830610T>C						ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.Q3343Q	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	10221	-			3343					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.10029A>G	CCDS7258.1																																																																																				0.403	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		43	85	0	0	0	0	43	85				
ARID5B	84159	broad.mit.edu	37	10	63851213	63851213	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:63851213G>T	ENST00000279873.7	+	10	2401	c.1991G>T	c.(1990-1992)gGg>gTg	p.G664V	ARID5B_ENST00000309334.5_Missense_Mutation_p.G421V	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	664					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GACCTGACTGGGCCCATGAAC	0.532																																						uc001jlt.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						c.(1990-1992)GGG>GTG		AT rich interactive domain 5B (MRF1-like)							68.0	59.0	62.0					10																	63851213		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63851213G>T	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.1991G>T	10.37:g.63851213G>T	ENSP00000279873:p.Gly664Val						p.G664V	NM_032199	NP_115575	Q14865	ARI5B_HUMAN			10	2017	+	Prostate(12;0.016)|all_hematologic(501;0.215)		664					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.1991G>T	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	G	6.771	0.511210	0.12883	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.44083	0.93;0.93	5.87	4.9	0.64082	.	0.283692	0.34200	N	0.004163	T	0.27594	0.0678	N	0.16307	0.4	0.49130	D	0.999752	B	0.10296	0.003	B	0.09377	0.004	T	0.04991	-1.0913	10	0.45353	T	0.12	-16.4961	12.1204	0.53887	0.0:0.1097:0.7354:0.1549	.	664	Q14865	ARI5B_HUMAN	V	664;421	ENSP00000279873:G664V;ENSP00000308862:G421V	ENSP00000279873:G664V	G	+	2	0	ARID5B	63521219	0.999000	0.42202	0.997000	0.53966	0.947000	0.59692	2.714000	0.47202	2.779000	0.95612	0.655000	0.94253	GGG		0.532	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		8	31	1	0	0.00307968	0.00421185	8	31				
JMJD1C	221037	broad.mit.edu	37	10	64960389	64960389	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:64960389A>C	ENST00000399262.2	-	11	5341	c.5123T>G	c.(5122-5124)cTg>cGg	p.L1708R	JMJD1C_ENST00000542921.1_Missense_Mutation_p.L1526R|JMJD1C_ENST00000402544.1_Missense_Mutation_p.L1489R|JMJD1C_ENST00000399251.1_Intron	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1708					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGTTTGCTTCAGCTTCTTGAC	0.373																																						uc001jmn.2		NA																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(5122-5124)CTG>CGG		jumonji domain containing 1C isoform a							87.0	77.0	80.0					10																	64960389		1858	4096	5954	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64960389A>C	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5123T>G	10.37:g.64960389A>C	ENSP00000382204:p.Leu1708Arg					JMJD1C_uc001jml.2_Missense_Mutation_p.L1489R|JMJD1C_uc001jmm.2_Missense_Mutation_p.L1420R|JMJD1C_uc010qiq.1_Missense_Mutation_p.L1526R|JMJD1C_uc009xpi.2_Missense_Mutation_p.L1526R|JMJD1C_uc009xpj.1_Intron|JMJD1C_uc009xpk.1_Intron	p.L1708R	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			11	5423	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1708					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.5123T>G	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.781394	0.90282	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921	T;T;T	0.65549	0.14;-0.16;0.15	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000001	T	0.81650	0.4867	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84754	0.0758	10	0.87932	D	0	-5.0109	16.2444	0.82434	1.0:0.0:0.0:0.0	.	1708;1526	Q15652;A0T124	JHD2C_HUMAN;.	R	1708;1489;1526	ENSP00000382204:L1708R;ENSP00000384990:L1489R;ENSP00000444682:L1526R	ENSP00000382204:L1708R	L	-	2	0	JMJD1C	64630395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.233000	0.73108	0.455000	0.32223	CTG		0.373	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		3	16	0	0	0	0	3	16				
LRRTM3	347731	broad.mit.edu	37	10	68687888	68687888	+	Missense_Mutation	SNP	G	G	T	rs150432500		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:68687888G>T	ENST00000361320.4	+	2	1792	c.1214G>T	c.(1213-1215)gGc>gTc	p.G405V	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	405					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						ACAGAGCCCGGCCCAGAGACC	0.617																																						uc001jmz.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1213-1215)GGC>GTC		leucine rich repeat transmembrane neuronal 3							45.0	49.0	48.0					10																	68687888		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68687888G>T	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.1214G>T	10.37:g.68687888G>T	ENSP00000355187:p.Gly405Val					CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.G405V	p.G405V	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN			2	1764	+			405			Extracellular (Potential).		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.1214G>T	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	G	1.309	-0.602711	0.03744	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.75050	-0.9	5.94	5.94	0.96194	.	0.433103	0.25025	N	0.033739	T	0.50837	0.1639	N	0.03608	-0.345	0.43508	D	0.995766	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.50906	-0.8772	10	0.13108	T	0.6	.	14.0301	0.64610	0.0:0.0:0.8487:0.1512	.	405;405	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	V	405	ENSP00000355187:G405V	ENSP00000355187:G405V	G	+	2	0	LRRTM3	68357894	1.000000	0.71417	0.988000	0.46212	0.913000	0.54294	3.868000	0.56055	2.820000	0.97059	0.650000	0.86243	GGC		0.617	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		23	56	1	0	3.6e-14	6.28e-14	23	56				
DNAJC12	56521	broad.mit.edu	37	10	69571401	69571401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:69571401G>A	ENST00000225171.2	-	3	330	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	DNAJC12_ENST00000339758.7_Nonsense_Mutation_p.Q60*|DNAJC12_ENST00000483798.2_Nonsense_Mutation_p.Q90*	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	60	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.									breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						TTTGCCTTCTGCAGTTTCTGA	0.458																																						uc001jnb.2		NA																	0				breast(1)	1						c.(178-180)CAG>TAG		J domain containing protein 1 isoform a							99.0	93.0	95.0					10																	69571401		2203	4300	6503	SO:0001587	stop_gained	56521				protein folding		heat shock protein binding|unfolded protein binding	g.chr10:69571401G>A	AF176012	CCDS7271.1, CCDS7272.1	10q21.3	2011-09-02			ENSG00000108176	ENSG00000108176		"""Heat shock proteins / DNAJ (HSP40)"""	28908	protein-coding gene	gene with protein product	"""J domain protein 1"""	606060				10760603	Standard	NM_021800		Approved	JDP1	uc001jnb.3	Q9UKB3	OTTHUMG00000018339	ENST00000225171.2:c.178C>T	10.37:g.69571401G>A	ENSP00000225171:p.Gln60*					DNAJC12_uc001jnc.2_Nonsense_Mutation_p.Q60*	p.Q60*	NM_021800	NP_068572	Q9UKB3	DJC12_HUMAN			3	346	-			60			J.		Q5JVQ1|Q9UKB2	Nonsense_Mutation	SNP	ENST00000225171.2	37	c.178C>T	CCDS7271.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518411	0.85495	.	.	ENSG00000108176	ENST00000225171;ENST00000339758	.	.	.	5.72	5.72	0.89469	.	0.056174	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-27.6195	18.6444	0.91406	0.0:0.0:1.0:0.0	.	.	.	.	X	60	.	ENSP00000225171:Q60X	Q	-	1	0	DNAJC12	69241407	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.204000	0.89741	2.699000	0.92147	0.561000	0.74099	CAG		0.458	DNAJC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048291.1	NM_021800		23	69	0	0	0	0	23	69				
ZMIZ1	57178	broad.mit.edu	37	10	81050778	81050778	+	Silent	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:81050778G>C	ENST00000334512.5	+	10	1175	c.603G>C	c.(601-603)gcG>gcC	p.A201A	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	201					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ACCCCATGGCGTCGGGCATGA	0.617																																						uc001kaf.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(601-603)GCG>GCC		retinoic acid induced 17							117.0	98.0	104.0					10																	81050778		2203	4300	6503	SO:0001819	synonymous_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81050778G>C	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.603G>C	10.37:g.81050778G>C						ZMIZ1_uc001kag.2_Silent_p.A77A|ZMIZ1_uc001kah.1_Silent_p.A77A	p.A201A	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		10	1175	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		201					Q5JSH9|Q7Z7E6	Silent	SNP	ENST00000334512.5	37	c.603G>C	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372463	0.24857	.	.	ENSG00000108175	ENST00000372347	.	.	.	5.67	-9.77	0.00500	.	.	.	.	.	T	0.26702	0.0653	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22138	-1.0225	5	0.11485	T	0.65	-9.6787	4.6897	0.12774	0.5645:0.0748:0.1193:0.2414	.	.	.	.	L	133	.	ENSP00000361422:V133L	V	+	1	0	ZMIZ1	80720784	0.021000	0.18746	0.700000	0.30305	0.996000	0.88848	-0.911000	0.04050	-1.274000	0.02421	-0.137000	0.14449	GTC		0.617	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		12	110	0	0	0	0	12	110				
ANXA11	311	broad.mit.edu	37	10	81928966	81928966	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:81928966G>C	ENST00000438331.1	-	6	802	c.320C>G	c.(319-321)cCa>cGa	p.P107R	ANXA11_ENST00000535999.1_Missense_Mutation_p.P107R|ANXA11_ENST00000360615.4_Missense_Mutation_p.P107R|ANXA11_ENST00000422982.3_Missense_Mutation_p.P107R|ANXA11_ENST00000372231.3_Missense_Mutation_p.P107R|ANXA11_ENST00000265447.4_Missense_Mutation_p.P107R|ANXA11_ENST00000537102.1_Missense_Mutation_p.P74R	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	107					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			TCCTGGGGGTGGATACATCCC	0.701																																						uc001kbq.1		NA																	0				ovary(1)	1						c.(319-321)CCA>CGA		annexin A11							12.0	16.0	15.0					10																	81928966		2159	4243	6402	SO:0001583	missense	311				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	g.chr10:81928966G>C	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.320C>G	10.37:g.81928966G>C	ENSP00000398610:p.Pro107Arg					ANXA11_uc010qlx.1_Missense_Mutation_p.P207R|ANXA11_uc001kbr.1_Missense_Mutation_p.P107R|ANXA11_uc001kbs.1_Missense_Mutation_p.P107R|ANXA11_uc001kbt.1_Missense_Mutation_p.P107R|ANXA11_uc010qly.1_Missense_Mutation_p.P74R|ANXA11_uc009xsq.1_Missense_Mutation_p.P107R|ANXA11_uc001kbu.1_Missense_Mutation_p.P107R	p.P107R	NM_145869	NP_665876	P50995	ANX11_HUMAN	Colorectal(32;0.109)		6	1145	-	Prostate(51;0.00985)|all_epithelial(25;0.0951)		107					B4DVE7	Missense_Mutation	SNP	ENST00000438331.1	37	c.320C>G	CCDS7364.1	.	.	.	.	.	.	.	.	.	.	.	16.01	3.001152	0.54254	.	.	ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000537102;ENST00000445524;ENST00000437799	T;T;T;T;T;T;T	0.03065	4.06;4.06;4.06;4.06;4.06;4.06;4.25	5.21	4.31	0.51392	.	0.316397	0.34959	N	0.003552	T	0.15522	0.0374	M	0.78456	2.415	0.49051	D	0.999748	D;D;D	0.76494	0.999;0.985;0.985	D;P;P	0.66196	0.942;0.798;0.798	T	0.00363	-1.1788	10	0.56958	D	0.05	.	11.6456	0.51259	0.087:0.0:0.913:0.0	.	207;107;107	B7Z6L0;Q5T0G8;P50995	.;.;ANX11_HUMAN	R	107;107;107;107;107;107;107;74;107;107	ENSP00000361305:P107R;ENSP00000404412:P107R;ENSP00000398610:P107R;ENSP00000353827:P107R;ENSP00000265447:P107R;ENSP00000441748:P107R;ENSP00000441400:P74R	ENSP00000265447:P107R	P	-	2	0	ANXA11	81918946	1.000000	0.71417	0.829000	0.32907	0.986000	0.74619	6.342000	0.72982	1.353000	0.45828	0.563000	0.77884	CCA		0.701	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		15	20	0	0	0	0	15	20				
NRG3	10718	broad.mit.edu	37	10	84498357	84498357	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:84498357C>A	ENST00000404547.1	+	3	978	c.978C>A	c.(976-978)gtC>gtA	p.V326V	NRG3_ENST00000372142.2_Silent_p.V105V|NRG3_ENST00000556918.1_Silent_p.V156V|NRG3_ENST00000372141.2_Silent_p.V326V|NRG3_ENST00000404576.2_Silent_p.V130V			P56975	NRG3_HUMAN	neuregulin 3	326	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ACCAAGGAGTCCGTTGTGATC	0.388																																						uc001kco.2		NA																	0				lung(5)|breast(1)	6						c.(976-978)GTC>GTA		neuregulin 3 isoform 1							158.0	139.0	146.0					10																	84498357		2203	4300	6503	SO:0001819	synonymous_variant	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84498357C>A	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.978C>A	10.37:g.84498357C>A						NRG3_uc010qlz.1_Silent_p.V326V|NRG3_uc001kcp.2_Silent_p.V105V|NRG3_uc001kcq.2_5'UTR	p.V326V	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	3	1005	+			326			EGF-like.|Extracellular (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Silent	SNP	ENST00000404547.1	37	c.978C>A	CCDS31233.1																																																																																				0.388	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		11	36	1	0	0.00010058	0.00014364	11	36				
LRIT1	26103	broad.mit.edu	37	10	85992290	85992290	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:85992290C>T	ENST00000372105.3	-	4	1286	c.1265G>A	c.(1264-1266)cGg>cAg	p.R422Q		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	422						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GGGTCCTGCCCGCCCATCAGA	0.617																																						uc001kcz.1		NA																	0					0						c.(1264-1266)CGG>CAG		retina specific protein PAL							89.0	76.0	80.0					10																	85992290		2203	4300	6503	SO:0001583	missense	26103					integral to endoplasmic reticulum membrane		g.chr10:85992290C>T	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1265G>A	10.37:g.85992290C>T	ENSP00000361177:p.Arg422Gln						p.R422Q	NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN			4	1287	-			422			Lumenal (Potential).		Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	37	c.1265G>A	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	C	2.082	-0.410576	0.04799	.	.	ENSG00000148602	ENST00000372105	T	0.35236	1.32	5.66	-8.1	0.01086	.	0.959163	0.08708	N	0.905324	T	0.12817	0.0311	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.38090	-0.9677	10	0.09843	T	0.71	.	8.5729	0.33581	0.0883:0.073:0.6197:0.2189	.	422	Q9P2V4	LRIT1_HUMAN	Q	422	ENSP00000361177:R422Q	ENSP00000361177:R422Q	R	-	2	0	LRIT1	85982270	0.001000	0.12720	0.000000	0.03702	0.027000	0.11550	-0.256000	0.08757	-1.006000	0.03412	-0.345000	0.07892	CGG		0.617	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		20	64	0	0	0	0	20	64				
KIF20B	9585	broad.mit.edu	37	10	91497825	91497825	+	Missense_Mutation	SNP	A	A	C	rs367727797	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:91497825A>C	ENST00000371728.3	+	20	3292	c.3227A>C	c.(3226-3228)cAt>cCt	p.H1076P	KIF20B_ENST00000260753.4_Missense_Mutation_p.H1036P|KIF20B_ENST00000416354.1_Missense_Mutation_p.H1106P|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Missense_Mutation_p.H1076P	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1076					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAAAAAAGTCATCAGATTGAG	0.358																																						uc001kgs.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(3226-3228)CAT>CCT		M-phase phosphoprotein 1							49.0	56.0	53.0					10																	91497825		2188	4290	6478	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91497825A>C	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3227A>C	10.37:g.91497825A>C	ENSP00000360793:p.His1076Pro					KIF20B_uc001kgr.1_Missense_Mutation_p.H1036P|KIF20B_uc001kgt.1_Missense_Mutation_p.H287P|KIF20B_uc009xtw.1_RNA	p.H1076P	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN			20	3299	+			1076					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.3227A>C		.	.	.	.	.	.	.	.	.	.	A	13.70	2.314575	0.40996	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.68903	-0.3;-0.32;-0.36;-0.29	5.68	4.55	0.56014	.	0.380754	0.22581	N	0.058209	T	0.63593	0.2524	L	0.60455	1.87	0.19300	N	0.999974	P;D	0.53151	0.93;0.958	B;P	0.44990	0.276;0.466	T	0.57665	-0.7772	10	0.45353	T	0.12	-2.9805	9.421	0.38550	0.8565:0.0:0.1435:0.0	.	1076;1036	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	P	1036;1106;1076;1076	ENSP00000260753:H1036P;ENSP00000411545:H1106P;ENSP00000377830:H1076P;ENSP00000360793:H1076P	ENSP00000260753:H1036P	H	+	2	0	KIF20B	91487805	0.507000	0.26146	0.837000	0.33122	0.529000	0.34654	3.884000	0.56175	0.976000	0.38417	0.482000	0.46254	CAT		0.358	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		19	45	0	0	0	0	19	45				
SLIT1	6585	broad.mit.edu	37	10	98803255	98803255	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:98803255G>T	ENST00000266058.4	-	19	2114	c.1869C>A	c.(1867-1869)aaC>aaA	p.N623K	SLIT1_ENST00000371070.4_Missense_Mutation_p.N623K|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	623					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		AGCTGATGCGGTTGTTCCGCA	0.652																																						uc001kmw.2		NA																	0				ovary(4)	4						c.(1867-1869)AAC>AAA		slit homolog 1 precursor							143.0	138.0	140.0					10																	98803255		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98803255G>T	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1869C>A	10.37:g.98803255G>T	ENSP00000266058:p.Asn623Lys					SLIT1_uc009xvh.1_Missense_Mutation_p.N633K	p.N623K	NM_003061	NP_003052	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	19	2121	-		Colorectal(252;0.162)	623			LRR 15.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.1869C>A	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308504	0.60305	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371070;ENST00000314867	T;T;T	0.68331	-0.32;-0.32;-0.32	3.65	0.724	0.18236	.	0.000000	0.85682	D	0.000000	D	0.87513	0.6196	H	0.99415	4.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.87203	0.2242	10	0.87932	D	0	.	9.1883	0.37184	0.2632:0.0:0.7368:0.0	.	633;623	E7EWQ8;O75093	.;SLIT1_HUMAN	K	623;633;623;616	ENSP00000266058:N623K;ENSP00000360109:N623K;ENSP00000315005:N616K	ENSP00000266058:N623K	N	-	3	2	SLIT1	98793245	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	1.397000	0.34543	0.336000	0.23639	0.491000	0.48974	AAC		0.652	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		13	21	1	0	9.05e-12	1.52e-11	13	21				
C10orf2	56652	broad.mit.edu	37	10	102749398	102749399	+	Splice_Site	DNP	CA	CA	TT			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:102749398_102749399CA>TT	ENST00000311916.2	+	2	1428		c.e2-1		MRPL43_ENST00000370242.4_5'Flank|C10orf2_ENST00000473656.1_Splice_Site|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000370236.1_5'Flank|MRPL43_ENST00000299179.5_5'Flank|MRPL43_ENST00000370234.4_5'Flank|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000493646.1_5'Flank|C10orf2_ENST00000370228.1_Splice_Site|MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000318325.2_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2						cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CACCCCACTGCAGGGCCAACAG	0.535																																						uc001ksf.2		NA																	0				ovary(1)	1						c.e2-2		twinkle isoform A																																				SO:0001630	splice_region_variant	56652				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	g.chr10:102749398_102749399CA>TT	AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	Exception_encountered	10.37:g.102749398_102749399delinsTT						MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Splice_Site_p.G415_splice|C10orf2_uc001ksi.2_Splice_Site|C10orf2_uc010qpv.1_Splice_Site|C10orf2_uc001ksh.2_Splice_Site	p.G415_splice	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)	2	1919	+		Colorectal(252;0.122)|all_hematologic(284;0.152)						B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Splice_Site	DNP	ENST00000311916.2	37	c.1244_splice	CCDS7506.1																																																																																				0.535	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830	Intron	18	63	0	0	0	0	18	63				
LZTS2	84445	broad.mit.edu	37	10	102763890	102763890	+	Missense_Mutation	SNP	C	C	A	rs566895394		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:102763890C>A	ENST00000370220.1	+	2	4098	c.1035C>A	c.(1033-1035)gaC>gaA	p.D345E	LZTS2_ENST00000370223.3_Missense_Mutation_p.D345E					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		AGCTGCGGGACAGTCTGGACG	0.632																																					Esophageal Squamous(8;38 437 13604 19902 37640)	uc001ksj.2		NA																	0				ovary(2)|large_intestine(1)|breast(1)	4						c.(1033-1035)GAC>GAA		leucine zipper, putative tumor suppressor 2							37.0	40.0	39.0					10																	102763890		2196	4286	6482	SO:0001583	missense	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102763890C>A	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.1035C>A	10.37:g.102763890C>A	ENSP00000359240:p.Asp345Glu					LZTS2_uc010qpw.1_Missense_Mutation_p.D345E|LZTS2_uc001ksk.2_Missense_Mutation_p.D345E|LZTS2_uc001ksl.2_Missense_Mutation_p.D345E|LZTS2_uc001ksm.2_RNA	p.D345E	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	3	1104	+			345			Potential.			Missense_Mutation	SNP	ENST00000370220.1	37	c.1035C>A	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.074421	0.55646	.	.	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	T;T	0.44482	0.92;0.92	5.12	4.2	0.49525	.	0.104769	0.64402	D	0.000004	T	0.25901	0.0631	L	0.28556	0.865	0.38583	D	0.950229	B	0.18013	0.025	B	0.17098	0.017	T	0.13202	-1.0518	9	.	.	.	-28.6279	5.8693	0.18795	0.1405:0.6439:0.1366:0.079	.	345	Q9BRK4	LZTS2_HUMAN	E	345	ENSP00000359243:D345E;ENSP00000359240:D345E	.	D	+	3	2	LZTS2	102753880	0.795000	0.28851	1.000000	0.80357	0.893000	0.52053	-0.053000	0.11846	2.539000	0.85634	0.561000	0.74099	GAC		0.632	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		11	40	1	0	6.4e-05	9.21e-05	11	40				
SLK	9748	broad.mit.edu	37	10	105762811	105762811	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:105762811G>T	ENST00000369755.3	+	9	2420	c.1875G>T	c.(1873-1875)gaG>gaT	p.E625D	SLK_ENST00000335753.4_Missense_Mutation_p.E625D	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	625	Glu-rich.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ACAGTTCAGAGAACATAATGG	0.388																																					NSCLC(111;540 1651 1927 4474 17706)	uc001kxo.1		NA																	0				ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8						c.(1873-1875)GAG>GAT		serine/threonine kinase 2							65.0	61.0	62.0					10																	105762811		2203	4300	6503	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105762811G>T		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1875G>T	10.37:g.105762811G>T	ENSP00000358770:p.Glu625Asp					SLK_uc001kxp.1_Missense_Mutation_p.E625D	p.E625D	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	9	1909	+		Colorectal(252;0.178)	625			Glu-rich.		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.1875G>T	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	G	6.633	0.485203	0.12641	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.69561	-0.41;-0.41	5.61	2.7	0.31948	Protein kinase-like domain (1);	0.329734	0.35067	N	0.003467	T	0.49745	0.1575	L	0.27053	0.805	0.09310	N	1	B;B	0.19200	0.034;0.02	B;B	0.24394	0.053;0.024	T	0.42120	-0.9470	10	0.46703	T	0.11	.	7.0334	0.24980	0.2023:0.0:0.6769:0.1207	.	625;625	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	D	625	ENSP00000336824:E625D;ENSP00000358770:E625D	ENSP00000336824:E625D	E	+	3	2	SLK	105752801	0.582000	0.26749	0.443000	0.26883	0.730000	0.41778	1.068000	0.30629	0.720000	0.32209	0.555000	0.69702	GAG		0.388	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		10	24	1	0	3.86e-05	5.58e-05	10	24				
ATRNL1	26033	broad.mit.edu	37	10	116930892	116930892	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:116930892C>G	ENST00000355044.3	+	8	1316	c.1190C>G	c.(1189-1191)aCa>aGa	p.T397R	ATRNL1_ENST00000527407.1_Missense_Mutation_p.Q368E|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	397					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCATGGAGTACAAAAACTCCT	0.383																																						uc001lcg.2		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.(1189-1191)ACA>AGA		attractin-like 1 precursor							183.0	170.0	175.0					10																	116930892		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:116930892C>G	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1190C>G	10.37:g.116930892C>G	ENSP00000347152:p.Thr397Arg					ATRNL1_uc001lce.2_RNA|ATRNL1_uc001lcf.2_Missense_Mutation_p.T397R|ATRNL1_uc009xyq.2_Missense_Mutation_p.Q368E	p.T397R	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	8	1576	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	397			Kelch 2.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.1190C>G	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	C	9.434	1.086379	0.20390	.	.	ENSG00000107518	ENST00000355044	T	0.65549	-0.16	5.87	5.87	0.94306	Kelch-type beta propeller (1);	0.220658	0.48767	D	0.000175	T	0.37892	0.1020	N	0.03115	-0.41	0.80722	D	1	B;B	0.12013	0.0;0.005	B;B	0.09377	0.0;0.004	T	0.33979	-0.9847	10	0.12766	T	0.61	-14.8954	15.3507	0.74384	0.0:0.9315:0.0:0.0685	.	397;397	Q5VV63;Q5VV63-2	ATRN1_HUMAN;.	R	397	ENSP00000347152:T397R	ENSP00000347152:T397R	T	+	2	0	ATRNL1	116920882	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.988000	0.49386	2.775000	0.95449	0.650000	0.86243	ACA		0.383	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		42	41	0	0	0	0	42	41				
ADAM12	8038	broad.mit.edu	37	10	127738229	127738229	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:127738229G>C	ENST00000368679.4	-	15	1937	c.1628C>G	c.(1627-1629)cCt>cGt	p.P543R	ADAM12_ENST00000467145.1_5'UTR|ADAM12_ENST00000368676.4_Missense_Mutation_p.P543R	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	543	Cys-rich.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCCAGGGGCAGGTTTAGCACC	0.473																																						uc001ljk.2		NA																	0				breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9						c.(1627-1629)CCT>CGT		ADAM metallopeptidase domain 12 isoform 1							90.0	90.0	90.0					10																	127738229		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127738229G>C	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1628C>G	10.37:g.127738229G>C	ENSP00000357668:p.Pro543Arg					ADAM12_uc010qul.1_Missense_Mutation_p.P494R|ADAM12_uc001ljm.2_Missense_Mutation_p.P543R|ADAM12_uc001ljn.2_Missense_Mutation_p.P540R|ADAM12_uc001ljl.3_Missense_Mutation_p.P540R	p.P543R	NM_003474	NP_003465	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	15	2041	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	543			Extracellular (Potential).|Cys-rich.		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.1628C>G	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459317	0.84317	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	T;T	0.21191	2.02;2.02	4.9	4.9	0.64082	ADAM, cysteine-rich (2);	0.065431	0.64402	D	0.000009	T	0.48466	0.1501	M	0.73598	2.24	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.79784	0.988;0.979;0.979;0.979;0.993	T	0.46247	-0.9205	10	0.52906	T	0.07	.	18.6296	0.91355	0.0:0.0:1.0:0.0	.	540;540;543;540;543	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	R	543	ENSP00000357668:P543R;ENSP00000357665:P543R	ENSP00000357665:P543R	P	-	2	0	ADAM12	127728219	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	9.356000	0.97091	2.699000	0.92147	0.655000	0.94253	CCT		0.473	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			32	36	0	0	0	0	32	36				
EBF3	253738	broad.mit.edu	37	10	131639253	131639253	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:131639253G>T	ENST00000355311.5	-	14	1488	c.1416C>A	c.(1414-1416)taC>taA	p.Y472*	MIR4297_ENST00000579857.1_RNA|EBF3_ENST00000368648.3_Nonsense_Mutation_p.Y463*			Q9H4W6	COE3_HUMAN	early B-cell factor 3	472	Pro/Ser/Thr-rich.				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)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGCTGGGGACGTAGCCTCGCG	0.547																																						uc001lki.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1387-1389)TAC>TAA		early B-cell factor 3							164.0	152.0	156.0					10																	131639253		2203	4300	6503	SO:0001587	stop_gained	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131639253G>T		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1416C>A	10.37:g.131639253G>T	ENSP00000347463:p.Tyr472*						p.Y463*	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	14	1448	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	472			Pro/Ser/Thr-rich.		A0AUY1|Q5T6H9|Q9H4W5	Nonsense_Mutation	SNP	ENST00000355311.5	37	c.1389C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.775464|6.775464	0.97829|0.97829	.|.	.|.	ENSG00000108001|ENSG00000108001	ENST00000440978|ENST00000355311;ENST00000368648	.|.	.|.	.|.	4.81|4.81	3.91|3.91	0.45181|0.45181	.|.	.|0.112000	.|0.64402	.|D	.|0.000006	T|.	0.21921|.	0.0528|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30880|.	-0.9963|.	3|.	.|0.02654	.|T	.|1	-19.5277|-19.5277	7.9249|7.9249	0.29867|0.29867	0.2312:0.0:0.7688:0.0|0.2312:0.0:0.7688:0.0	.|.	.|.	.|.	.|.	S|X	34|472;463	.|.	.|ENSP00000347463:Y472X	R|Y	-|-	1|3	0|2	EBF3|EBF3	131529243|131529243	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.997000|4.997000	0.63921|0.63921	1.255000|1.255000	0.44051|0.44051	-0.136000|-0.136000	0.14681|0.14681	CGT|TAC		0.547	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		41	80	1	0	2.41e-17	4.33e-17	41	80				
CYP2E1	1571	broad.mit.edu	37	10	135350720	135350720	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr10:135350720G>T	ENST00000463117.2	+	9	1393	c.1121G>T	c.(1120-1122)cGa>cTa	p.R374L	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.R374L			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	374					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GAAGCAACCCGAGACACCATT	0.527									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													uc001lnj.1		NA																	0				central_nervous_system(3)	3						c.(1120-1122)CGA>CTA		cytochrome P450, family 2, subfamily E,	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)						190.0	128.0	149.0					10																	135350720		2203	4300	6503	SO:0001583	missense	1571	Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	g.chr10:135350720G>T	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.1121G>T	10.37:g.135350720G>T	ENSP00000440689:p.Arg374Leu					CYP2E1_uc001lnk.1_Missense_Mutation_p.R237L|CYP2E1_uc009ybl.1_Missense_Mutation_p.R175L|CYP2E1_uc009ybm.1_Missense_Mutation_p.R28L|CYP2E1_uc001lnl.1_Missense_Mutation_p.R175L	p.R374L	NM_000773	NP_000764	P05181	CP2E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	7	1154	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	374					Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	c.1121G>T	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.414048	0.25465	.	.	ENSG00000130649	ENST00000463117;ENST00000252945;ENST00000421586;ENST00000418356	T;T;T;T	0.79940	4.96;4.96;2.59;-1.32	4.85	-0.811	0.10857	.	0.912554	0.09470	N	0.797841	T	0.75882	0.3910	M	0.66939	2.045	0.09310	N	1	P;B	0.36378	0.55;0.205	B;B	0.34418	0.182;0.071	T	0.64334	-0.6432	10	0.59425	D	0.04	.	9.0866	0.36586	0.4469:0.0:0.5531:0.0	.	270;374	Q59EW1;P05181	.;CP2E1_HUMAN	L	374;374;287;237	ENSP00000440689:R374L;ENSP00000252945:R374L;ENSP00000412754:R287L;ENSP00000397299:R237L	ENSP00000252945:R374L	R	+	2	0	CYP2E1	135200710	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.476000	0.06591	-0.233000	0.09797	-0.157000	0.13467	CGA		0.527	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		14	67	1	0	6.72e-11	1.12e-10	14	67				
ART1	417	broad.mit.edu	37	11	3681167	3681167	+	Missense_Mutation	SNP	C	C	T	rs537517512		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:3681167C>T	ENST00000250693.1	+	3	519	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	140					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		TGAGGCGGGCCGCTCCCGGGC	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		15739	0.001		0.0	False		,,,				2504	0.0					uc001lye.1		NA																	0					0						c.(418-420)CGC>TGC		ADP-ribosyltransferase 1 precursor	Becaplermin(DB00102)						37.0	40.0	39.0					11																	3681167		2201	4298	6499	SO:0001583	missense	417				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr11:3681167C>T	S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"""CD molecules"""	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.418C>T	11.37:g.3681167C>T	ENSP00000250693:p.Arg140Cys					ART1_uc009yeb.1_Missense_Mutation_p.R140C	p.R140C	NM_004314	NP_004305	P52961	NAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	3	519	+		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	140					Q6NTD2|Q96KT9	Missense_Mutation	SNP	ENST00000250693.1	37	c.418C>T	CCDS7744.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.420926	0.25639	.	.	ENSG00000129744	ENST00000250693	T	0.10668	2.85	5.53	4.59	0.56863	.	0.357151	0.31061	N	0.008323	T	0.14787	0.0357	M	0.75777	2.31	0.43448	D	0.995634	B	0.22211	0.066	B	0.14578	0.011	T	0.02226	-1.1192	9	.	.	.	.	13.5999	0.62013	0.1551:0.8448:0.0:0.0	.	140	P52961	NAR1_HUMAN	C	140	ENSP00000250693:R140C	.	R	+	1	0	ART1	3637743	0.000000	0.05858	0.977000	0.42913	0.391000	0.30476	0.247000	0.18179	2.603000	0.88011	0.467000	0.42956	CGC		0.667	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1	NM_004314		13	33	0	0	0	0	13	33				
OR52A1	23538	broad.mit.edu	37	11	5172865	5172865	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:5172865A>G	ENST00000380367.1	-	2	1152	c.735T>C	c.(733-735)atT>atC	p.I245I	OR52A1_ENST00000328942.1_Silent_p.I245I			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	245					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATGTGAGCAATGCAGGTAT	0.428																																						uc010qyy.1		NA																	0				ovary(1)|breast(1)	2						c.(733-735)ATT>ATC		olfactory receptor, family 52, subfamily A,							210.0	191.0	197.0					11																	5172865		2201	4298	6499	SO:0001819	synonymous_variant	23538				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr11:5172865A>G	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.735T>C	11.37:g.5172865A>G							p.I245I	NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	735	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	245			Helical; Name=6; (Potential).		Q6IF31	Silent	SNP	ENST00000380367.1	37	c.735T>C	CCDS31374.1																																																																																				0.428	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375		13	43	0	0	0	0	13	43				
OR51B5	282763	broad.mit.edu	37	11	5364185	5364185	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:5364185G>T	ENST00000300773.2	-	1	624	c.570C>A	c.(568-570)acC>acA	p.T190T	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	190					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTGAAGGTGGTATCAGCAC	0.428																																						uc001map.1		NA																	0				skin(1)	1						c.(568-570)ACC>ACA		olfactory receptor, family 51, subfamily B,							106.0	111.0	109.0					11																	5364185		2201	4297	6498	SO:0001819	synonymous_variant	282763				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5364185G>T	BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.570C>A	11.37:g.5364185G>T						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Silent_p.T190T	p.T190T	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	570	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	190			Extracellular (Potential).		B2RN59	Silent	SNP	ENST00000300773.2	37	c.570C>A	CCDS31378.1																																																																																				0.428	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567		48	71	1	0	2.59e-38	4.94e-38	48	71				
OR56A4	120793	broad.mit.edu	37	11	6023944	6023944	+	Missense_Mutation	SNP	C	C	A	rs144089765		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:6023944C>A	ENST00000330728.4	-	1	480	c.435G>T	c.(433-435)agG>agT	p.R145S		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCTGATCGACCTGAGGTCAA	0.547																																						uc010qzv.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(433-435)AGG>AGT		olfactory receptor, family 56, subfamily A,							96.0	89.0	91.0					11																	6023944		2201	4296	6497	SO:0001583	missense	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6023944C>A	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.435G>T	11.37:g.6023944C>A	ENSP00000328215:p.Arg145Ser						p.R145S	NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	435	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	93			Extracellular (Potential).		B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	c.435G>T	CCDS31404.1	.	.	.	.	.	.	.	.	.	.	C	1.602	-0.526279	0.04141	.	.	ENSG00000183389	ENST00000330728	T	0.37235	1.21	3.34	-3.28	0.05033	GPCR, rhodopsin-like superfamily (1);	0.481118	0.15203	U	0.274927	T	0.26122	0.0637	L	0.53780	1.695	0.09310	N	1	B	0.14805	0.011	B	0.20184	0.028	T	0.23154	-1.0196	10	0.54805	T	0.06	.	3.6712	0.08275	0.2774:0.2781:0.0:0.4444	.	93	Q8NGH8	O56A4_HUMAN	S	145	ENSP00000328215:R145S	ENSP00000328215:R145S	R	-	3	2	OR56A4	5980520	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.226000	0.02953	-0.597000	0.05813	-0.277000	0.10078	AGG		0.547	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		27	61	1	0	2.8e-10	4.62e-10	27	61				
IPO7	10527	broad.mit.edu	37	11	9466672	9466672	+	Silent	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:9466672A>C	ENST00000379719.3	+	25	3190	c.3048A>C	c.(3046-3048)ggA>ggC	p.G1016G		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	1016					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		AGCATGGAGGATACAAATTCA	0.378																																						uc001mho.2		NA																	0				lung(1)|breast(1)	2						c.(3046-3048)GGA>GGC		importin 7							74.0	74.0	74.0					11																	9466672		2201	4294	6495	SO:0001819	synonymous_variant	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9466672A>C	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.3048A>C	11.37:g.9466672A>C							p.G1016G	NM_006391	NP_006382	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	25	3190	+			1016					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Silent	SNP	ENST00000379719.3	37	c.3048A>C	CCDS31425.1																																																																																				0.378	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		15	46	0	0	0	0	15	46				
MRGPRX2	117194	broad.mit.edu	37	11	19077157	19077157	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:19077157C>A	ENST00000329773.2	-	2	880	c.793G>T	c.(793-795)Gtt>Ttt	p.V265F		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	265					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GACAGGACAACTGAAACTGGA	0.478																																					GBM(198;1966 2199 4849 37227 49954)	uc001mph.2		NA																	0				ovary(1)	1						c.(793-795)GTT>TTT		MAS-related GPR, member X2							78.0	81.0	80.0					11																	19077157		2199	4293	6492	SO:0001583	missense	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077157C>A		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.793G>T	11.37:g.19077157C>A	ENSP00000333800:p.Val265Phe						p.V265F	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN			2	881	-			265			Helical; Name=7; (Potential).		B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	c.793G>T	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	7.815	0.716438	0.15306	.	.	ENSG00000183695	ENST00000329773	T	0.38722	1.12	4.77	-9.54	0.00572	GPCR, rhodopsin-like superfamily (1);	4.160070	0.00397	N	0.000053	T	0.19248	0.0462	N	0.10760	0.04	0.09310	N	1	B	0.12630	0.006	B	0.21151	0.033	T	0.14980	-1.0453	10	0.31617	T	0.26	.	5.2886	0.15716	0.2909:0.4749:0.09:0.1442	.	265	Q96LB1	MRGX2_HUMAN	F	265	ENSP00000333800:V265F	ENSP00000333800:V265F	V	-	1	0	MRGPRX2	19033733	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.071000	0.00301	-2.835000	0.00337	-0.137000	0.14449	GTT		0.478	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		26	37	1	0	7.34e-06	1.09e-05	26	37				
PAX6	5080	broad.mit.edu	37	11	31823216	31823216	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:31823216C>A	ENST00000379132.3	-	5	530	c.250G>T	c.(250-252)Gta>Tta	p.V84L	PAX6_ENST00000379107.2_Missense_Mutation_p.V98L|PAX6_ENST00000379111.2_Missense_Mutation_p.V84L|PAX6_ENST00000379123.5_Missense_Mutation_p.V84L|PAX6_ENST00000241001.8_Missense_Mutation_p.V84L|PAX6_ENST00000379115.4_Missense_Mutation_p.V98L|PAX6_ENST00000533156.1_5'Flank|PAX6_ENST00000379129.2_Missense_Mutation_p.V98L|PAX6_ENST00000419022.1_Missense_Mutation_p.V98L			P26367	PAX6_HUMAN	paired box 6	84	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					ATTTTGCTTACAACTTCTGGA	0.502									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													uc001mtd.3		NA																	0				lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9						c.(250-252)GTA>TTA		paired box gene 6 isoform a							100.0	96.0	97.0					11																	31823216		2202	4299	6501	SO:0001583	missense	5080	Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31823216C>A	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.250G>T	11.37:g.31823216C>A	ENSP00000368427:p.Val84Leu					PAX6_uc001mte.3_Missense_Mutation_p.V84L|PAX6_uc001mtg.3_Missense_Mutation_p.V98L|PAX6_uc001mtf.3_Missense_Mutation_p.V84L|PAX6_uc001mth.3_Missense_Mutation_p.V84L|PAX6_uc009yjr.2_Missense_Mutation_p.V84L	p.V84L	NM_001127612	NP_001121084	P26367	PAX6_HUMAN			5	1140	-	Lung SC(675;0.225)		84			Paired.		Q6N006|Q99413	Missense_Mutation	SNP	ENST00000379132.3	37	c.250G>T	CCDS31451.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821122	0.90873	.	.	ENSG00000007372	ENST00000419022;ENST00000379132;ENST00000379129;ENST00000379107;ENST00000241001;ENST00000379115;ENST00000379111;ENST00000379123;ENST00000379109;ENST00000533333	D;D;D;D;D;D;D;D;D;D	0.99409	-5.75;-5.75;-5.75;-5.75;-5.75;-5.75;-5.75;-5.75;-5.75;-5.85	5.35	5.35	0.76521	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.056133	0.64402	D	0.000001	D	0.99591	0.9852	M	0.89163	3.01	0.80722	D	1	D;P	0.62365	0.991;0.459	D;B	0.75020	0.985;0.138	D	0.98221	1.0478	10	0.62326	D	0.03	.	19.0586	0.93078	0.0:1.0:0.0:0.0	.	98;84	F1T0F8;P26367	.;PAX6_HUMAN	L	98;84;98;98;84;98;84;84;84;39	ENSP00000404100:V98L;ENSP00000368427:V84L;ENSP00000368424:V98L;ENSP00000368401:V98L;ENSP00000241001:V84L;ENSP00000368410:V98L;ENSP00000368406:V84L;ENSP00000368418:V84L;ENSP00000368403:V84L;ENSP00000451372:V39L	ENSP00000241001:V84L	V	-	1	0	PAX6	31779792	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.784000	0.85713	2.488000	0.83962	0.650000	0.86243	GTA		0.502	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		23	59	1	0	1.87e-06	2.81e-06	23	59				
CRY2	1408	broad.mit.edu	37	11	45892072	45892072	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:45892072A>T	ENST00000443527.2	+	9	1623	c.1601A>T	c.(1600-1602)tAc>tTc	p.Y534F	CRY2_ENST00000417225.2_Missense_Mutation_p.Y452F	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	513					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CTTTCGCGCTACCGGGGACTC	0.542																																					Esophageal Squamous(106;91 1499 8126 12599 39610)	uc010rgn.1		NA																	0				central_nervous_system(1)	1						c.(1600-1602)TAC>TTC		cryptochrome 2 (photolyase-like) isoform 1							57.0	51.0	53.0					11																	45892072		2203	4299	6502	SO:0001583	missense	1408				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	g.chr11:45892072A>T	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"""cryptochrome 2 (photolyase-like)"""			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.1601A>T	11.37:g.45892072A>T	ENSP00000406751:p.Tyr534Phe					CRY2_uc009ykw.2_Missense_Mutation_p.Y452F|CRY2_uc010rgo.1_Missense_Mutation_p.Y256F	p.Y534F	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN			9	1623	+			513					B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	ENST00000443527.2	37	c.1601A>T	CCDS7915.2	.	.	.	.	.	.	.	.	.	.	A	15.97	2.989872	0.54041	.	.	ENSG00000121671	ENST00000417225;ENST00000443527	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.50667	0.1629	L	0.27053	0.805	0.47153	D	0.99933	B;B;B	0.14805	0.002;0.005;0.011	B;B;B	0.17722	0.005;0.013;0.019	T	0.42882	-0.9425	9	0.27785	T	0.31	-24.7639	15.8534	0.78952	1.0:0.0:0.0:0.0	.	513;534;452	Q49AN0;B4DZD6;Q49AN0-2	CRY2_HUMAN;.;.	F	452;534	.	ENSP00000397419:Y452F	Y	+	2	0	CRY2	45848648	1.000000	0.71417	0.996000	0.52242	0.944000	0.59088	7.436000	0.80404	2.154000	0.67381	0.533000	0.62120	TAC		0.542	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2	NM_021117		8	29	0	0	0	0	8	29				
PTPRJ	5795	broad.mit.edu	37	11	48168496	48168496	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:48168496A>G	ENST00000418331.2	+	15	3332	c.2980A>G	c.(2980-2982)Atc>Gtc	p.I994V		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	994					contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGGAGGCTTCATCTTCTGGAG	0.398																																						uc001ngp.3		NA																	0				breast(3)|kidney(3)|ovary(1)|skin(1)	8						c.(2980-2982)ATC>GTC		protein tyrosine phosphatase, receptor type, J							285.0	263.0	270.0					11																	48168496		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48168496A>G	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.2980A>G	11.37:g.48168496A>G	ENSP00000400010:p.Ile994Val						p.I994V	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN			15	3335	+			994			Helical; (Potential).		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.2980A>G	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	A	10.79	1.449143	0.26074	.	.	ENSG00000149177	ENST00000418331	T	0.13420	2.59	5.37	4.23	0.50019	.	.	.	.	.	T	0.12603	0.0306	L	0.58669	1.825	0.80722	D	1	B	0.13145	0.007	B	0.12156	0.007	T	0.10064	-1.0646	9	0.26408	T	0.33	.	5.1033	0.14772	0.7556:0.0:0.0862:0.1581	.	994	Q12913	PTPRJ_HUMAN	V	994	ENSP00000400010:I994V	ENSP00000400010:I994V	I	+	1	0	PTPRJ	48125072	0.999000	0.42202	1.000000	0.80357	0.936000	0.57629	0.498000	0.22530	0.861000	0.35504	0.456000	0.33151	ATC		0.398	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			96	115	0	0	0	0	96	115				
OR4C12	283093	broad.mit.edu	37	11	50003578	50003578	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:50003578C>T	ENST00000335238.4	-	1	493	c.460G>A	c.(460-462)Gca>Aca	p.A154T		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TGAATAGTTGCATGAAGAAAT	0.478																																						uc010ria.1		NA																	0				ovary(2)|skin(1)	3						c.(460-462)GCA>ACA		olfactory receptor, family 4, subfamily C,							142.0	148.0	146.0					11																	50003578		2201	4296	6497	SO:0001583	missense	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003578C>T	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.460G>A	11.37:g.50003578C>T	ENSP00000334418:p.Ala154Thr						p.A154T	NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN			1	460	-			154			Helical; Name=4; (Potential).		B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	c.460G>A	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	14.99	2.701245	0.48307	.	.	ENSG00000221954	ENST00000335238	T	0.39056	1.1	2.98	2.98	0.34508	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41712	U	0.000829	T	0.53061	0.1773	L	0.49778	1.585	0.30770	N	0.743146	P	0.52577	0.954	P	0.62560	0.904	T	0.57843	-0.7741	10	0.72032	D	0.01	.	11.934	0.52864	0.0:1.0:0.0:0.0	.	154	Q96R67	OR4CC_HUMAN	T	154	ENSP00000334418:A154T	ENSP00000334418:A154T	A	-	1	0	OR4C12	49960154	0.022000	0.18835	0.996000	0.52242	0.253000	0.25986	0.282000	0.18829	1.698000	0.51180	0.398000	0.26397	GCA		0.478	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		42	162	0	0	0	0	42	162				
OR4C46	119749	broad.mit.edu	37	11	51515337	51515337	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:51515337C>A	ENST00000328188.1	+	1	56	c.56C>A	c.(55-57)cCa>cAa	p.P19Q		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ACAGAGAATCCAAAGATGCAG	0.363																																						uc010ric.1		NA																	0				ovary(1)	1						c.(55-57)CCA>CAA		olfactory receptor, family 4, subfamily C,							159.0	152.0	155.0					11																	51515337		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515337C>A		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.56C>A	11.37:g.51515337C>A	ENSP00000329056:p.Pro19Gln						p.P19Q	NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN			1	56	+			19			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000328188.1	37	c.56C>A	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	9.696	1.153072	0.21371	.	.	ENSG00000185926	ENST00000328188	T	0.00428	7.44	2.63	2.63	0.31362	.	0.000000	0.34291	U	0.004082	T	0.00468	0.0015	M	0.79475	2.455	0.09310	N	1	B	0.28026	0.198	B	0.27380	0.079	T	0.33954	-0.9848	10	0.51188	T	0.08	.	11.1303	0.48343	0.0:1.0:0.0:0.0	.	19	A6NHA9	O4C46_HUMAN	Q	19	ENSP00000329056:P19Q	ENSP00000329056:P19Q	P	+	2	0	OR4C46	51371913	0.000000	0.05858	0.119000	0.21687	0.030000	0.12068	-0.666000	0.05280	1.513000	0.48852	0.134000	0.15878	CCA		0.363	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		20	98	1	0	0.000175454	0.000249192	20	98				
TRIM48	79097	broad.mit.edu	37	11	55035843	55035843	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:55035843A>T	ENST00000417545.2	+	4	659	c.573A>T	c.(571-573)ttA>ttT	p.L191F		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	175						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GAGACATATTATACAGGTGAG	0.338																																						uc010rid.1		NA																	0					0						c.(571-573)TTA>TTT		tripartite motif-containing 48							108.0	112.0	110.0					11																	55035843		2190	4259	6449	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55035843A>T	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.573A>T	11.37:g.55035843A>T	ENSP00000402414:p.Leu191Phe						p.L191F	NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN			4	659	+			175					Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.573A>T	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	a	3.108	-0.183308	0.06340	.	.	ENSG00000150244	ENST00000417545	T	0.75367	-0.93	.	.	.	.	.	.	.	.	T	0.65523	0.2699	L	0.61036	1.89	0.09310	N	1	B	0.24483	0.104	B	0.17098	0.017	T	0.52480	-0.8570	7	0.33141	T	0.24	.	.	.	.	.	175	Q8IWZ4	TRI48_HUMAN	F	191	ENSP00000402414:L191F	ENSP00000402414:L191F	L	+	3	2	TRIM48	54792419	0.471000	0.25862	0.179000	0.23059	0.178000	0.23041	-0.431000	0.06965	0.103000	0.17682	0.102000	0.15555	TTA		0.338	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			12	46	0	0	0	0	12	46				
OR5I1	10798	broad.mit.edu	37	11	55703379	55703379	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:55703379A>G	ENST00000301532.3	-	1	497	c.498T>C	c.(496-498)ttT>ttC	p.F166F		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	166					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATTTCAGAATAAAGGCAAAGG	0.413																																						uc010ris.1		NA																	0				ovary(1)	1						c.(496-498)TTT>TTC		olfactory receptor, family 5, subfamily I,							73.0	77.0	76.0					11																	55703379		2201	4294	6495	SO:0001819	synonymous_variant	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703379A>G	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.498T>C	11.37:g.55703379A>G							p.F166F	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	498	-			166			Extracellular (Potential).		Q6IEU4	Silent	SNP	ENST00000301532.3	37	c.498T>C	CCDS7949.1																																																																																				0.413	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		28	28	0	0	0	0	28	28				
OR5I1	10798	broad.mit.edu	37	11	55703773	55703773	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:55703773G>A	ENST00000301532.3	-	1	103	c.104C>T	c.(103-105)aCa>aTa	p.T35I		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	35					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AGCATACAATGTCAGAAACAT	0.393																																						uc010ris.1		NA																	0				ovary(1)	1						c.(103-105)ACA>ATA		olfactory receptor, family 5, subfamily I,							66.0	64.0	65.0					11																	55703773		2200	4295	6495	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703773G>A	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.104C>T	11.37:g.55703773G>A	ENSP00000301532:p.Thr35Ile						p.T35I	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	104	-			35			Helical; Name=1; (Potential).		Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.104C>T	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	G	0.607	-0.826736	0.02734	.	.	ENSG00000167825	ENST00000301532	T	0.01287	5.05	5.05	-3.35	0.04928	.	1.935240	0.02448	N	0.085298	T	0.00724	0.0024	N	0.01267	-0.92	0.09310	N	1	B	0.24258	0.1	B	0.15870	0.014	T	0.48175	-0.9058	10	0.27082	T	0.32	.	8.8344	0.35104	0.7155:0.1239:0.1606:0.0	.	35	Q13606	OR5I1_HUMAN	I	35	ENSP00000301532:T35I	ENSP00000301532:T35I	T	-	2	0	OR5I1	55460349	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.142000	0.10311	-0.765000	0.04645	-0.154000	0.13518	ACA		0.393	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		8	28	0	0	0	0	8	28				
OR5T3	390154	broad.mit.edu	37	11	56020200	56020200	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:56020200C>T	ENST00000303059.3	+	1	525	c.525C>T	c.(523-525)atC>atT	p.I175I		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TGCCACTCATCACTGCTTCCT	0.433																																						uc010rjd.1		NA																	0					0						c.(523-525)ATC>ATT		olfactory receptor, family 5, subfamily T,							251.0	229.0	237.0					11																	56020200		2201	4295	6496	SO:0001819	synonymous_variant	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020200C>T	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.525C>T	11.37:g.56020200C>T							p.I175I	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			1	525	+	Esophageal squamous(21;0.00448)		175			Helical; Name=4; (Potential).		Q6IFC7	Silent	SNP	ENST00000303059.3	37	c.525C>T	CCDS31524.1																																																																																				0.433	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		99	120	0	0	0	0	99	120				
OR8J1	219477	broad.mit.edu	37	11	56127929	56127929	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:56127929T>C	ENST00000303039.3	+	1	239	c.207T>C	c.(205-207)atT>atC	p.I69I		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TGGCTCTCATTAATCTTGGTA	0.453																																						uc010rjh.1		NA																	0				ovary(2)	2						c.(205-207)ATT>ATC		olfactory receptor, family 8, subfamily J,							167.0	150.0	156.0					11																	56127929		2201	4296	6497	SO:0001819	synonymous_variant	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56127929T>C	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.207T>C	11.37:g.56127929T>C							p.I69I	NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN			1	207	+	Esophageal squamous(21;0.00448)		69			Helical; Name=2; (Potential).		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Silent	SNP	ENST00000303039.3	37	c.207T>C	CCDS31529.1																																																																																				0.453	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		27	108	0	0	0	0	27	108				
OR5M11	219487	broad.mit.edu	37	11	56309852	56309852	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:56309852T>C	ENST00000528616.2	-	1	905	c.882A>G	c.(880-882)aaA>aaG	p.K294K		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						GCTTCACATCTTTATTCCTCA	0.373																																						uc010rjl.1		NA																	0					0						c.(880-882)AAA>AAG		olfactory receptor, family 5, subfamily M,							74.0	68.0	70.0					11																	56309852		1898	4131	6029	SO:0001819	synonymous_variant	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56309852T>C	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.882A>G	11.37:g.56309852T>C							p.K294K	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN			1	882	-			294			Cytoplasmic (Potential).		B2RNL5|B2RNL7	Silent	SNP	ENST00000528616.2	37	c.882A>G	CCDS53629.1																																																																																				0.373	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		11	40	0	0	0	0	11	40				
OR5M1	390168	broad.mit.edu	37	11	56380575	56380575	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:56380575C>A	ENST00000526538.1	-	1	403	c.404G>T	c.(403-405)aGg>aTg	p.R135M		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CTTGGACATCCTGGAACTGTA	0.453																																						uc001nja.1		NA																	0				central_nervous_system(1)	1						c.(403-405)AGG>ATG		olfactory receptor, family 5, subfamily M,							150.0	131.0	137.0					11																	56380575		1979	4180	6159	SO:0001583	missense	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380575C>A	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.404G>T	11.37:g.56380575C>A	ENSP00000435416:p.Arg135Met						p.R135M	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN			1	404	-			135			Cytoplasmic (Potential).		Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	c.404G>T	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	c	7.177	0.588802	0.13812	.	.	ENSG00000255012	ENST00000526538	T	0.18810	2.19	3.71	-0.973	0.10297	GPCR, rhodopsin-like superfamily (1);	0.524378	0.15816	N	0.243229	T	0.15176	0.0366	N	0.16743	0.435	0.09310	N	1	P	0.41710	0.76	P	0.49528	0.614	T	0.13361	-1.0512	10	0.46703	T	0.11	-22.4878	4.5181	0.11945	0.5694:0.2259:0.0:0.2046	.	135	Q8NGP8	OR5M1_HUMAN	M	135	ENSP00000435416:R135M	ENSP00000435416:R135M	R	-	2	0	OR5M1	56137151	0.000000	0.05858	0.121000	0.21740	0.421000	0.31385	-0.300000	0.08243	-0.015000	0.14150	-1.079000	0.02226	AGG		0.453	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		34	50	1	0	9.66e-10	1.58e-09	34	50				
OR5B3	441608	broad.mit.edu	37	11	58170806	58170806	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:58170806A>G	ENST00000309403.2	-	1	76	c.77T>C	c.(76-78)tTt>tCt	p.F26S		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAACGTTATAAAGAGGGGAAC	0.413																																						uc010rkf.1		NA																	0					0						c.(76-78)TTT>TCT		olfactory receptor, family 5, subfamily B,							125.0	121.0	123.0					11																	58170806		2201	4294	6495	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170806A>G	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.77T>C	11.37:g.58170806A>G	ENSP00000308270:p.Phe26Ser						p.F26S	NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN			1	77	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	26			Helical; Name=1; (Potential).		Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.77T>C	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	a	8.814	0.935908	0.18206	.	.	ENSG00000172769	ENST00000309403	T	0.04551	3.6	4.19	4.19	0.49359	.	0.000000	0.43747	D	0.000533	T	0.08537	0.0212	M	0.70842	2.15	0.09310	N	0.999994	P	0.44690	0.841	B	0.40477	0.33	T	0.13953	-1.0490	10	0.72032	D	0.01	-53.0465	12.4788	0.55829	1.0:0.0:0.0:0.0	.	26	Q8NH48	OR5B3_HUMAN	S	26	ENSP00000308270:F26S	ENSP00000308270:F26S	F	-	2	0	OR5B3	57927382	1.000000	0.71417	0.378000	0.26068	0.062000	0.15995	4.631000	0.61304	1.893000	0.54813	0.477000	0.44152	TTT		0.413	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		24	68	0	0	0	0	24	68				
TUT1	64852	broad.mit.edu	37	11	62343587	62343587	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:62343587C>T	ENST00000476907.1	-	9	2295	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H	EEF1G_ENST00000378019.3_5'Flank|EEF1G_ENST00000532986.1_5'Flank|EEF1G_ENST00000329251.4_5'Flank|TUT1_ENST00000308436.7_Missense_Mutation_p.R573H|MIR3654_ENST00000496634.2_Intron			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	535	PAP-associated.				mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGGGCCAAGGCGCAGACCCTC	0.622																																						uc001nto.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1717-1719)CGC>CAC		terminal uridylyl transferase 1, U6							22.0	25.0	24.0					11																	62343587		2198	4289	6487	SO:0001583	missense	64852				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding	g.chr11:62343587C>T	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.1604G>A	11.37:g.62343587C>T	ENSP00000419607:p.Arg535His					EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank|TUT1_uc001ntp.1_Missense_Mutation_p.R69H	p.R573H	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN			9	1756	-			535			PAP-associated.		A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	ENST00000476907.1	37	c.1718G>A		.	.	.	.	.	.	.	.	.	.	C	22.4	4.279781	0.80692	.	.	ENSG00000149016	ENST00000308436;ENST00000476907	T;T	0.78003	-1.14;-1.14	5.39	5.39	0.77823	PAP/25A-associated (1);	0.257500	0.27027	N	0.021293	D	0.82287	0.5004	L	0.29908	0.895	0.41469	D	0.988094	D;D	0.89917	1.0;1.0	D;D	0.77004	0.987;0.989	D	0.84323	0.0517	10	0.66056	D	0.02	-12.2483	16.6517	0.85218	0.0:1.0:0.0:0.0	.	535;573	Q9H6E5;F5H0R1	STPAP_HUMAN;.	H	573;535	ENSP00000308000:R573H;ENSP00000419607:R535H	ENSP00000308000:R573H	R	-	2	0	TUT1	62100163	0.003000	0.15002	0.987000	0.45799	0.886000	0.51366	0.772000	0.26647	2.525000	0.85131	0.563000	0.77884	CGC		0.622	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830		11	39	0	0	0	0	11	39				
SLC22A11	55867	broad.mit.edu	37	11	64335111	64335111	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:64335111C>A	ENST00000301891.4	+	7	1473	c.1099C>A	c.(1099-1101)Ctg>Atg	p.L367M	SLC22A11_ENST00000377585.3_Intron|SLC22A11_ENST00000377581.3_Missense_Mutation_p.L367M	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	367					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	GGTCTTCGACCTGCAGAGCCT	0.632																																						uc001oai.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1099-1101)CTG>ATG		solute carrier family 22 member 11	Probenecid(DB01032)						89.0	101.0	97.0					11																	64335111		2201	4297	6498	SO:0001583	missense	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64335111C>A	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.1099C>A	11.37:g.64335111C>A	ENSP00000301891:p.Leu367Met					SLC22A11_uc001oaj.2_Missense_Mutation_p.L367M|SLC22A11_uc009ypq.2_Intron	p.L367M	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN			7	1473	+			367			Helical; (Potential).		A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	37	c.1099C>A	CCDS8074.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204949	0.79127	.	.	ENSG00000168065	ENST00000301891;ENST00000377581;ENST00000416590	T;T;T	0.75704	-0.09;-0.09;-0.96	3.21	3.21	0.36854	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.56097	U	0.000027	T	0.78585	0.4306	L	0.55017	1.72	0.26298	N	0.978028	D;D	0.76494	0.999;0.999	D;D	0.71656	0.974;0.974	T	0.66428	-0.5926	10	0.44086	T	0.13	.	6.4379	0.21833	0.0:0.8634:0.0:0.1365	.	367;367	A6NCG2;Q9NSA0	.;S22AB_HUMAN	M	367;367;14	ENSP00000301891:L367M;ENSP00000366804:L367M;ENSP00000413508:L14M	ENSP00000301891:L367M	L	+	1	2	SLC22A11	64091687	1.000000	0.71417	0.122000	0.21767	0.809000	0.45718	0.937000	0.28951	1.805000	0.52779	0.505000	0.49811	CTG		0.632	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		80	80	1	0	5.95e-44	1.14e-43	80	80				
SLC22A12	116085	broad.mit.edu	37	11	64367324	64367324	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:64367324C>T	ENST00000377574.1	+	7	1994	c.1247C>T	c.(1246-1248)gCa>gTa	p.A416V	SLC22A12_ENST00000377567.2_Missense_Mutation_p.A308V|SLC22A12_ENST00000336464.7_Missense_Mutation_p.A382V|SLC22A12_ENST00000473690.1_Missense_Mutation_p.A195V|SLC22A12_ENST00000377572.1_Missense_Mutation_p.A308V	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	416					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	CTGTTGCTGGCAGGGCTCTGC	0.657																																						uc001oam.1		NA																	0				ovary(1)	1						c.(1246-1248)GCA>GTA		urate anion exchanger 1 isoform a							26.0	25.0	26.0					11																	64367324		2199	4294	6493	SO:0001583	missense	116085				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	g.chr11:64367324C>T	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.1247C>T	11.37:g.64367324C>T	ENSP00000366797:p.Ala416Val					SLC22A12_uc001oal.1_Missense_Mutation_p.A195V|SLC22A12_uc009yps.1_Missense_Mutation_p.A382V|SLC22A12_uc001oan.1_Missense_Mutation_p.A308V|SLC22A12_uc009ypt.2_Missense_Mutation_p.A234V	p.A416V	NM_144585	NP_653186	Q96S37	S22AC_HUMAN			7	1994	+			416			Helical; (Potential).		B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Missense_Mutation	SNP	ENST00000377574.1	37	c.1247C>T	CCDS8075.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166493	0.57476	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000473690;ENST00000336464	T;T;T;T;T	0.74421	-0.84;0.27;-0.84;-0.84;-0.84	4.73	4.73	0.59995	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.280435	0.33650	N	0.004684	T	0.75671	0.3881	L	0.58969	1.84	0.23515	N	0.997515	P;P;P	0.47762	0.549;0.9;0.549	B;P;B	0.47645	0.259;0.553;0.364	T	0.70088	-0.4968	10	0.42905	T	0.14	.	15.1841	0.72986	0.0:1.0:0.0:0.0	.	382;308;416	B5ME56;Q96S37-2;Q96S37	.;.;S22AC_HUMAN	V	308;416;308;195;382	ENSP00000366790:A308V;ENSP00000366797:A416V;ENSP00000366795:A308V;ENSP00000438437:A195V;ENSP00000336836:A382V	ENSP00000336836:A382V	A	+	2	0	SLC22A12	64123900	0.066000	0.20996	0.265000	0.24526	0.004000	0.04260	3.547000	0.53663	2.169000	0.68431	0.511000	0.50034	GCA		0.657	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		8	33	0	0	0	0	8	33				
RHOD	29984	broad.mit.edu	37	11	66834226	66834226	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:66834226C>T	ENST00000308831.2	+	3	323	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	RHOD_ENST00000532559.1_Intron|RHOD_ENST00000533360.1_Missense_Mutation_p.R80C	NM_014578.3	NP_055393	O00212	RHOD_HUMAN	ras homolog family member D	80					actin filament bundle assembly (GO:0051017)|focal adhesion assembly (GO:0048041)|GTP catabolic process (GO:0006184)|lamellipodium assembly (GO:0030032)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(3)	3						TGACTATGACCGCCTGCGGCC	0.592																																						uc001ojv.2		NA																	0					0						c.(238-240)CGC>TGC		ras homolog D precursor							136.0	124.0	128.0					11																	66834226		2200	4295	6495	SO:0001583	missense	29984				regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr11:66834226C>T	D85815	CCDS8155.1, CCDS73330.1	11q14.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000173156	ENSG00000173156			670	protein-coding gene	gene with protein product	"""Rho-related protein HP1"", ""Rho-related GTP-binding protein RhoD"""	605781	"""ras homolog gene family, member D"""	ARHD		9116026	Standard	NM_014578		Approved	RhoHP1, RhoD, Rho	uc001ojv.3	O00212	OTTHUMG00000167102	ENST00000308831.2:c.238C>T	11.37:g.66834226C>T	ENSP00000308576:p.Arg80Cys						p.R80C	NM_014578	NP_055393	O00212	RHOD_HUMAN			3	323	+			80						Missense_Mutation	SNP	ENST00000308831.2	37	c.238C>T	CCDS8155.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058334	0.55325	.	.	ENSG00000173156	ENST00000308831;ENST00000533360	T;T	0.78003	-1.14;-1.14	4.9	4.9	0.64082	Small GTP-binding protein domain (1);	0.000000	0.48767	D	0.000166	D	0.86908	0.6046	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	D	0.88272	0.2930	10	0.87932	D	0	-19.3198	13.4347	0.61077	0.0:1.0:0.0:0.0	.	80	O00212	RHOD_HUMAN	C	80	ENSP00000308576:R80C;ENSP00000431167:R80C	ENSP00000308576:R80C	R	+	1	0	RHOD	66590802	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	2.853000	0.48317	2.550000	0.86006	0.655000	0.94253	CGC		0.592	RHOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393136.1	NM_014578		31	115	0	0	0	0	31	115				
LRP5	4041	broad.mit.edu	37	11	68177399	68177399	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:68177399C>T	ENST00000294304.7	+	10	2215	c.2109C>T	c.(2107-2109)ttC>ttT	p.F703F		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	703	Beta-propeller 3.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCGCGCCTTCATGAACGGGA	0.547																																						uc001ont.2		NA																	0				lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						c.(2107-2109)TTC>TTT		low density lipoprotein receptor-related protein							82.0	80.0	80.0					11																	68177399		2200	4294	6494	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68177399C>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.2109C>T	11.37:g.68177399C>T						LRP5_uc009ysg.2_Silent_p.F113F	p.F703F	NM_002335	NP_002326	O75197	LRP5_HUMAN			10	2184	+			703			LDL-receptor class B 11.|Beta-propeller 3.|Extracellular (Potential).		Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.2109C>T	CCDS8181.1																																																																																				0.547	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		24	59	0	0	0	0	24	59				
CPT1A	1374	broad.mit.edu	37	11	68540781	68540781	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:68540781C>T	ENST00000265641.5	-	14	1846	c.1692G>A	c.(1690-1692)acG>acA	p.T564T	CPT1A_ENST00000539743.1_Silent_p.T564T|CPT1A_ENST00000376618.2_Silent_p.T564T|CPT1A_ENST00000540367.1_Silent_p.T564T|CPT1A_ENST00000537756.2_5'UTR	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	564	Coenzyme A binding. {ECO:0000250}.				carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	CGTCTGGGCTCGTGCGACATT	0.527																																						uc001oog.3		NA																	0				skin(2)	2						c.(1690-1692)ACG>ACA		carnitine palmitoyltransferase 1A liver isoform	L-Carnitine(DB00583)|Perhexiline(DB01074)						94.0	82.0	86.0					11																	68540781		2200	4294	6494	SO:0001819	synonymous_variant	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68540781C>T	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1692G>A	11.37:g.68540781C>T						CPT1A_uc001oof.3_Silent_p.T564T|CPT1A_uc009ysj.2_Intron	p.T564T	NM_001876	NP_001867	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		14	1862	-	Esophageal squamous(3;3.28e-14)		564			Cytoplasmic (Potential).|Coenzyme A binding (By similarity).		Q8TCU0|Q9BWK0	Silent	SNP	ENST00000265641.5	37	c.1692G>A	CCDS8185.1																																																																																				0.527	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		11	47	0	0	0	0	11	47				
GDPD5	81544	broad.mit.edu	37	11	75150960	75150960	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:75150960G>T	ENST00000336898.3	-	15	2357	c.1520C>A	c.(1519-1521)tCc>tAc	p.S507Y	GDPD5_ENST00000526177.1_Missense_Mutation_p.S369Y|GDPD5_ENST00000533784.1_Missense_Mutation_p.S388Y|GDPD5_ENST00000529721.1_Missense_Mutation_p.S507Y|GDPD5_ENST00000533805.1_Missense_Mutation_p.S262Y|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000376282.3_Missense_Mutation_p.S388Y	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	507					cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GAGGGTGAAGGAGACCAGGTC	0.627																																						uc001owo.3		NA																	0				ovary(1)	1						c.(1519-1521)TCC>TAC		glycerophosphodiester phosphodiesterase domain							129.0	105.0	113.0					11																	75150960		2200	4293	6493	SO:0001583	missense	81544				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	g.chr11:75150960G>T	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1520C>A	11.37:g.75150960G>T	ENSP00000337972:p.Ser507Tyr					GDPD5_uc001owp.3_Missense_Mutation_p.S507Y|GDPD5_uc001own.3_Missense_Mutation_p.S262Y|GDPD5_uc009yuc.2_Missense_Mutation_p.S369Y|GDPD5_uc009yud.2_Missense_Mutation_p.S388Y	p.S507Y	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN			16	2057	-			507			Helical; (Potential).		Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	ENST00000336898.3	37	c.1520C>A	CCDS8238.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846792	0.91277	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282;ENST00000534322	T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.77928	0.4204	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81193	-0.1044	10	0.87932	D	0	-41.6474	16.0247	0.80536	0.0:0.0:1.0:0.0	.	388;507	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	Y	369;388;507;507;262;388;91	ENSP00000434050:S369Y;ENSP00000437049:S388Y;ENSP00000433214:S507Y;ENSP00000337972:S507Y;ENSP00000435196:S262Y;ENSP00000365459:S388Y;ENSP00000435728:S91Y	ENSP00000337972:S507Y	S	-	2	0	GDPD5	74828608	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.026000	0.88783	2.651000	0.90000	0.561000	0.74099	TCC		0.627	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		18	57	1	0	6.5e-13	1.11e-12	18	57				
AMOTL1	154810	broad.mit.edu	37	11	94533100	94533100	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:94533100G>T	ENST00000433060.2	+	3	885	c.744G>T	c.(742-744)gaG>gaT	p.E248D	AMOTL1_ENST00000317829.8_Missense_Mutation_p.E198D|AMOTL1_ENST00000317837.9_Missense_Mutation_p.E248D	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	248					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				ATAAGGACGAGGCGCTGAAGG	0.612																																						uc001pfb.2		NA																	0				ovary(1)|breast(1)	2						c.(742-744)GAG>GAT		angiomotin like 1							37.0	40.0	39.0					11																	94533100		2069	4212	6281	SO:0001583	missense	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94533100G>T	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.744G>T	11.37:g.94533100G>T	ENSP00000387739:p.Glu248Asp					AMOTL1_uc001pfc.2_Missense_Mutation_p.E198D	p.E248D	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN			3	914	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	248					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	c.744G>T	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.663880	0.29515	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000317837;ENST00000433060	T;T;T	0.13196	2.61;2.61;2.61	5.13	1.91	0.25777	.	0.156294	0.43579	D	0.000545	T	0.04272	0.0118	N	0.04203	-0.255	0.38203	D	0.94025	B;B	0.12013	0.005;0.004	B;B	0.12156	0.007;0.004	T	0.33189	-0.9878	9	.	.	.	-23.2642	2.1344	0.03758	0.1546:0.2231:0.4191:0.2033	.	198;248	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	D	198;254;248;248	ENSP00000320968:E198D;ENSP00000323474:E248D;ENSP00000387739:E248D	.	E	+	3	2	AMOTL1	94172748	0.992000	0.36948	1.000000	0.80357	0.928000	0.56348	0.191000	0.17076	1.123000	0.41961	0.555000	0.69702	GAG		0.612	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		11	47	1	0	1.09e-07	1.69e-07	11	47				
KIAA1377	57562	broad.mit.edu	37	11	101834402	101834402	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:101834402G>C	ENST00000263468.8	+	6	2906	c.2636G>C	c.(2635-2637)tGt>tCt	p.C879S	KIAA1377_ENST00000537689.1_Missense_Mutation_p.C680S	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	879										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CCATCATATTGTTCTTCAGAG	0.418																																						uc001pgm.2		NA																	0				breast(2)|ovary(1)|central_nervous_system(1)	4						c.(2635-2637)TGT>TCT		hypothetical protein LOC57562							92.0	81.0	85.0					11																	101834402		2203	4299	6502	SO:0001583	missense	57562						protein binding	g.chr11:101834402G>C	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.2636G>C	11.37:g.101834402G>C	ENSP00000263468:p.Cys879Ser					KIAA1377_uc001pgn.2_Missense_Mutation_p.C835S|KIAA1377_uc010run.1_Missense_Mutation_p.C680S|KIAA1377_uc009yxa.1_Missense_Mutation_p.C680S	p.C879S	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	6	2906	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	879					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.2636G>C	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.256995	0.00265	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.06768	3.26;3.26	5.77	-0.0281	0.13924	.	0.510793	0.19582	N	0.110836	T	0.06462	0.0166	L	0.55103	1.725	0.09310	N	1	B	0.17667	0.023	B	0.15484	0.013	T	0.45977	-0.9224	10	0.09338	T	0.73	0.1643	5.6106	0.17404	0.3542:0.0:0.5178:0.128	.	879	Q9P2H0	K1377_HUMAN	S	879;680	ENSP00000263468:C879S;ENSP00000443184:C680S	ENSP00000263468:C879S	C	+	2	0	KIAA1377	101339612	0.001000	0.12720	0.016000	0.15963	0.006000	0.05464	0.236000	0.17967	-0.200000	0.10300	-0.150000	0.13652	TGT		0.418	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		24	18	0	0	0	0	24	18				
CASP4	837	broad.mit.edu	37	11	104819393	104819393	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:104819393C>A	ENST00000444739.2	-	6	1702	c.792G>T	c.(790-792)ggG>ggT	p.G264G	CASP4_ENST00000393150.3_Silent_p.G208G|CASP4_ENST00000531333.1_5'Flank	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	264					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CCCACAGTTCCCCACGGTTTG	0.493																																						uc001pid.1		NA																	0				lung(2)|ovary(1)|skin(1)	4						c.(790-792)GGG>GGT		caspase 4 isoform alpha precursor							139.0	112.0	121.0					11																	104819393		2202	4299	6501	SO:0001819	synonymous_variant	837				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104819393C>A	U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"""Caspases"""	1505	protein-coding gene	gene with protein product		602664	"""caspase 4, apoptosis-related cysteine protease"""			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.792G>T	11.37:g.104819393C>A						CASP4_uc001pib.1_Silent_p.G208G|CASP4_uc009yxg.1_Silent_p.G173G	p.G264G	NM_001225	NP_001216	P49662	CASP4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)	6	865	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	264					A2NHL8|A2NHM0	Silent	SNP	ENST00000444739.2	37	c.792G>T	CCDS8327.1																																																																																				0.493	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225		18	44	1	0	1.68e-08	2.68e-08	18	44				
GRIA4	2893	broad.mit.edu	37	11	105774688	105774688	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:105774688T>C	ENST00000530497.1	+	7	1034	c.1034T>C	c.(1033-1035)aTg>aCg	p.M345T	GRIA4_ENST00000282499.5_Missense_Mutation_p.M345T|GRIA4_ENST00000393127.2_Missense_Mutation_p.M345T|GRIA4_ENST00000525187.1_Missense_Mutation_p.M345T|GRIA4_ENST00000393125.2_Missense_Mutation_p.M345T|GRIA4_ENST00000428631.2_Missense_Mutation_p.M345T			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	345					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GGAATTGACATGGAGAGGACA	0.398																																						uc001pix.2		NA																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(1033-1035)ATG>ACG		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						87.0	92.0	90.0					11																	105774688		2202	4299	6501	SO:0001583	missense	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105774688T>C	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1034T>C	11.37:g.105774688T>C	ENSP00000435775:p.Met345Thr					GRIA4_uc001piu.1_Missense_Mutation_p.M345T|GRIA4_uc001piw.2_Missense_Mutation_p.M345T|GRIA4_uc009yxk.1_Missense_Mutation_p.M345T	p.M345T	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	8	1480	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	345			Extracellular (Potential).		Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.1034T>C	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.939854	0.73557	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94	5.77	5.77	0.91146	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.19525	0.0469	N	0.14661	0.345	0.80722	D	1	B;P;P	0.42993	0.013;0.486;0.797	B;B;P	0.45538	0.038;0.333;0.484	T	0.03524	-1.1028	10	0.87932	D	0	.	16.3948	0.83586	0.0:0.0:0.0:1.0	.	345;345;345	P48058;G3V164;Q86XE8	GRIA4_HUMAN;.;.	T	345	ENSP00000376833:M345T;ENSP00000282499:M345T;ENSP00000376835:M345T;ENSP00000415551:M345T;ENSP00000435775:M345T;ENSP00000432180:M345T	ENSP00000282499:M345T	M	+	2	0	GRIA4	105279898	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.655000	0.83696	2.326000	0.78906	0.533000	0.62120	ATG		0.398	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			18	76	0	0	0	0	18	76				
AASDHPPT	60496	broad.mit.edu	37	11	105950303	105950303	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:105950303C>G	ENST00000278618.4	+	2	515	c.293C>G	c.(292-294)tCa>tGa	p.S98*	KBTBD3_ENST00000531837.1_5'Flank|KBTBD3_ENST00000534815.1_5'Flank|KBTBD3_ENST00000526793.1_5'Flank	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	98					macromolecule biosynthetic process (GO:0009059)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		GCAAAGGACTCATCGAATCCT	0.388																																						uc001pjc.1		NA																	0					0						c.(292-294)TCA>TGA		aminoadipate-semialdehyde							103.0	102.0	102.0					11																	105950303		2201	4299	6500	SO:0001587	stop_gained	60496				macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding	g.chr11:105950303C>G	AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.293C>G	11.37:g.105950303C>G	ENSP00000278618:p.Ser98*					KBTBD3_uc001pja.2_5'Flank|KBTBD3_uc001pjb.2_5'Flank|KBTBD3_uc009yxm.2_5'Flank|AASDHPPT_uc010rvn.1_RNA	p.S98*	NM_015423	NP_056238	Q9NRN7	ADPPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)	2	439	+		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	98					B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Nonsense_Mutation	SNP	ENST00000278618.4	37	c.293C>G	CCDS31664.1	.	.	.	.	.	.	.	.	.	.	C	37	6.493381	0.97612	.	.	ENSG00000149313	ENST00000533423;ENST00000524411;ENST00000278618	.	.	.	5.91	4.99	0.66335	.	0.760760	0.12810	N	0.437227	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	5.6624	0.17676	0.0:0.7451:0.0:0.2549	.	.	.	.	X	33;33;98	.	ENSP00000278618:S98X	S	+	2	0	AASDHPPT	105455513	0.271000	0.24162	0.986000	0.45419	0.808000	0.45660	1.286000	0.33273	2.793000	0.96121	0.655000	0.94253	TCA		0.388	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388734.1	NM_015423		14	42	0	0	0	0	14	42				
ARHGAP20	57569	broad.mit.edu	37	11	110485323	110485323	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:110485323G>C	ENST00000260283.4	-	7	876	c.592C>G	c.(592-594)Ctc>Gtc	p.L198V	ARHGAP20_ENST00000533353.1_Missense_Mutation_p.L172V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.L162V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.L162V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.L172V|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.L175V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	198	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AAGATTTTGAGGGGAATGCTC	0.413																																						uc001pkz.1		NA																	0				ovary(3)|kidney(2)	5						c.(592-594)CTC>GTC		Rho GTPase activating protein 20							119.0	107.0	111.0					11																	110485323		2201	4298	6499	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110485323G>C	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.592C>G	11.37:g.110485323G>C	ENSP00000260283:p.Leu198Val					ARHGAP20_uc001pky.1_Missense_Mutation_p.L175V|ARHGAP20_uc009yyb.1_Missense_Mutation_p.L162V|ARHGAP20_uc001pla.1_Missense_Mutation_p.L162V	p.L198V	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	7	877	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	198			Ras-associating.		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.592C>G	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828178	0.71143	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22	6.06	5.12	0.69794	Ras-association (2);	0.057867	0.64402	N	0.000001	T	0.55986	0.1955	M	0.74647	2.275	0.34359	D	0.690767	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.69316	-0.5177	10	0.59425	D	0.04	.	7.5401	0.27733	0.1394:0.1421:0.7185:0.0	.	198;175	Q9P2F6;Q9P2F6-3	RHG20_HUMAN;.	V	198;172;175;162;172;162	ENSP00000260283:L198V;ENSP00000349660:L172V;ENSP00000432076:L175V;ENSP00000436319:L162V;ENSP00000436522:L172V;ENSP00000431399:L162V	ENSP00000260283:L198V	L	-	1	0	ARHGAP20	109990533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.526000	0.53509	1.514000	0.48869	0.655000	0.94253	CTC		0.413	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		10	35	0	0	0	0	10	35				
BCL9L	283149	broad.mit.edu	37	11	118772310	118772310	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:118772310C>A	ENST00000334801.3	-	6	3106	c.2142G>T	c.(2140-2142)gcG>gcT	p.A714A	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	714	Met-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCTGTCGGTGCGCCTGCATCA	0.662																																						uc001pug.2		NA																	0				ovary(1)|pancreas(1)	2						c.(2140-2142)GCG>GCT		B-cell CLL/lymphoma 9-like							60.0	60.0	60.0					11																	118772310		2200	4295	6495	SO:0001819	synonymous_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118772310C>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2142G>T	11.37:g.118772310C>A						BCL9L_uc009zal.2_Silent_p.A709A	p.A714A	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	3107	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	714			Met-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	ENST00000334801.3	37	c.2142G>T	CCDS8403.1																																																																																				0.662	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		20	54	1	0	5.35e-07	8.21e-07	20	54				
VPS11	55823	broad.mit.edu	37	11	118944567	118944567	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:118944567C>G	ENST00000300793.6	+	8	1183	c.1141C>G	c.(1141-1143)Ctg>Gtg	p.L381V	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	382					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GAGCCAGCATCTGGACAGTGA	0.478																																						uc010ryx.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1144-1146)CTG>GTG		vacuolar protein sorting 11							92.0	85.0	87.0					11																	118944567		1919	4136	6055	SO:0001583	missense	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118944567C>G	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.1141C>G	11.37:g.118944567C>G	ENSP00000475301:p.Leu381Val					VPS11_uc010ryy.1_Missense_Mutation_p.L228V	p.L382V	NM_021729	NP_068375	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	8	1186	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	382					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37	c.1144C>G																																																																																					0.478	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		7	24	0	0	0	0	7	24				
ST3GAL4	6484	broad.mit.edu	37	11	126283417	126283417	+	Silent	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:126283417G>C	ENST00000526727.1	+	9	1163	c.789G>C	c.(787-789)ctG>ctC	p.L263L	ST3GAL4_ENST00000530591.1_Silent_p.L259L|ST3GAL4_ENST00000532243.1_Silent_p.L262L|ST3GAL4_ENST00000392669.2_Silent_p.L263L|ST3GAL4_ENST00000449406.2_Silent_p.L252L|ST3GAL4_ENST00000534083.1_Silent_p.L263L|ST3GAL4_ENST00000356132.4_Silent_p.L269L|ST3GAL4_ENST00000227495.6_Silent_p.L259L|ST3GAL4_ENST00000444328.2_Silent_p.L263L|ST3GAL4_ENST00000534457.1_Silent_p.L258L			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	263					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		CCACGGGCCTGTTGGCCATCA	0.592																																						uc001qds.2		NA																	0					0						c.(787-789)CTG>CTC		ST3 beta-galactoside alpha-2,3-sialyltransferase							66.0	61.0	63.0					11																	126283417		2201	4297	6498	SO:0001819	synonymous_variant	6484				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr11:126283417G>C	X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"""Sialyltransferases"""	10864	protein-coding gene	gene with protein product	"""ST3Gal IV"""	104240	"""sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"""	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.789G>C	11.37:g.126283417G>C						ST3GAL4_uc001qdt.2_Silent_p.L259L|ST3GAL4_uc009zcc.2_Silent_p.L99L|ST3GAL4_uc009zcd.2_Silent_p.L252L|ST3GAL4_uc001qdu.2_Silent_p.L259L|ST3GAL4_uc001qdv.2_Silent_p.L263L|ST3GAL4_uc009zce.2_Silent_p.L259L|ST3GAL4_uc001qdw.2_Silent_p.L252L|ST3GAL4_uc001qdx.1_Intron|ST3GAL4_uc001qdy.2_Silent_p.L99L|ST3GAL4_uc001qdz.2_Silent_p.L99L	p.L263L	NM_006278	NP_006269	Q11206	SIA4C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)	10	1008	+	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)	263			Lumenal (Potential).		A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Silent	SNP	ENST00000526727.1	37	c.789G>C	CCDS58193.1																																																																																				0.592	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386470.1	NM_006278		13	27	0	0	0	0	13	27				
NFRKB	4798	broad.mit.edu	37	11	129758530	129758530	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:129758530C>A	ENST00000446488.3	-	3	399	c.296G>T	c.(295-297)cGc>cTc	p.R99L	NFRKB_ENST00000524746.1_Missense_Mutation_p.R99L|NFRKB_ENST00000524794.1_Missense_Mutation_p.R112L|NFRKB_ENST00000304521.5_Missense_Mutation_p.R99L|NFRKB_ENST00000526940.1_Missense_Mutation_p.R99L	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	99					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GTTTCCAAAGCGGAAGTTCTC	0.502																																						uc001qfi.2		NA																	0				ovary(3)	3						c.(295-297)CGC>CTC		nuclear factor related to kappaB binding protein							110.0	103.0	105.0					11																	129758530		2201	4297	6498	SO:0001583	missense	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129758530C>A		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.296G>T	11.37:g.129758530C>A	ENSP00000400476:p.Arg99Leu					NFRKB_uc001qfg.2_Missense_Mutation_p.R112L|NFRKB_uc001qfh.2_Missense_Mutation_p.R122L|NFRKB_uc010sbw.1_Missense_Mutation_p.R99L	p.R99L	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	4	497	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	99					Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	c.296G>T	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500501	0.64298	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755;ENST00000532225;ENST00000529319;ENST00000526940	.	.	.	5.71	5.71	0.89125	.	0.154309	0.64402	D	0.000014	T	0.55433	0.1920	L	0.38175	1.15	0.45172	D	0.998188	B;B;B;B	0.30114	0.269;0.079;0.129;0.129	B;B;B;B	0.21708	0.028;0.016;0.036;0.036	T	0.55964	-0.8057	9	0.66056	D	0.02	-12.1803	19.9135	0.97033	0.0:1.0:0.0:0.0	.	99;99;99;112	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	L	99;99;112;99;99;99;99;99	.	ENSP00000303800:R99L	R	-	2	0	NFRKB	129263740	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.299000	0.59073	2.697000	0.92050	0.650000	0.86243	CGC		0.502	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		19	43	1	0	2.28e-05	3.33e-05	19	43				
GALNT8	26290	broad.mit.edu	37	12	4835951	4835951	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:4835951C>T	ENST00000252318.2	+	2	802	c.465C>T	c.(463-465)aaC>aaT	p.N155N	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	155					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ACCTCAGCAACCAGCTGCCTC	0.567																																					Colon(108;631 1558 7270 20097 39846)	uc001qne.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(463-465)AAC>AAT		polypeptide N-acetylgalactosaminyltransferase 8							78.0	71.0	73.0					12																	4835951		2203	4300	6503	SO:0001819	synonymous_variant	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4835951C>T	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.465C>T	12.37:g.4835951C>T							p.N155N	NM_017417	NP_059113	Q9NY28	GALT8_HUMAN			2	557	+			155			Lumenal (Potential).		B2RU02	Silent	SNP	ENST00000252318.2	37	c.465C>T	CCDS8533.1																																																																																				0.567	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		37	76	0	0	0	0	37	76				
KCNA1	3736	broad.mit.edu	37	12	5021762	5021762	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:5021762C>T	ENST00000382545.3	+	2	2325	c.1218C>T	c.(1216-1218)gtC>gtT	p.V406V	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	406					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CCGTACCTGTCATTGTGTCCA	0.517																																						uc001qnh.2		NA																	0				ovary(1)|skin(1)	2						c.(1216-1218)GTC>GTT		potassium voltage-gated channel subfamily A	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						307.0	301.0	303.0					12																	5021762		2203	4300	6503	SO:0001819	synonymous_variant	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021762C>T	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.1218C>T	12.37:g.5021762C>T							p.V406V	NM_000217	NP_000208	Q09470	KCNA1_HUMAN			2	2323	+			406			Helical; Name=Segment S6; (Potential).		A6NM83|Q3MIQ9	Silent	SNP	ENST00000382545.3	37	c.1218C>T	CCDS8535.1																																																																																				0.517	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		170	304	0	0	0	0	170	304				
CD163	9332	broad.mit.edu	37	12	7636247	7636247	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:7636247G>C	ENST00000359156.4	-	12	3006	c.2804C>G	c.(2803-2805)cCc>cGc	p.P935R	CD163_ENST00000541972.1_Missense_Mutation_p.P923R|CD163_ENST00000396620.3_Missense_Mutation_p.P968R|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000432237.2_Missense_Mutation_p.P935R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	935	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	ACAGGAAGTGGGTCCTTCCTG	0.468																																						uc001qsz.3		NA																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(2803-2805)CCC>CGC		CD163 antigen isoform a							78.0	65.0	70.0					12																	7636247		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7636247G>C	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2804C>G	12.37:g.7636247G>C	ENSP00000352071:p.Pro935Arg					CD163_uc001qta.3_Missense_Mutation_p.P935R|CD163_uc009zfw.2_Missense_Mutation_p.P968R	p.P935R	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			12	2932	-			935			SRCR 9.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.2804C>G	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	8.489	0.861525	0.17178	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	4.78	-9.56	0.00566	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	2.173550	0.01477	N	0.016516	T	0.14614	0.0353	N	0.04018	-0.295	0.09310	N	1	P;B;P	0.37914	0.601;0.02;0.611	B;B;B	0.36845	0.234;0.025;0.167	T	0.26052	-1.0114	10	0.40728	T	0.16	.	13.0741	0.59077	0.0:0.1459:0.1178:0.7363	.	968;935;935	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	R	935;923;968;935	ENSP00000352071:P935R;ENSP00000444071:P923R;ENSP00000379863:P968R;ENSP00000403885:P935R	ENSP00000352071:P935R	P	-	2	0	CD163	7527514	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.651000	0.00857	-2.317000	0.00644	-0.324000	0.08512	CCC		0.468	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		23	55	0	0	0	0	23	55				
A2M	2	broad.mit.edu	37	12	9230012	9230012	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:9230012C>A	ENST00000318602.7	-	27	3588	c.3281G>T	c.(3280-3282)gGa>gTa	p.G1094V	A2M_ENST00000542567.1_5'Flank	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1094					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	ATCTTCTACTCCTCCCTGTGA	0.453																																						uc001qvk.1		NA																	0				central_nervous_system(4)|skin(1)	5						c.(3280-3282)GGA>GTA		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						93.0	94.0	93.0					12																	9230012		2191	4299	6490	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9230012C>A	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3281G>T	12.37:g.9230012C>A	ENSP00000323929:p.Gly1094Val					A2M_uc001qvj.1_Missense_Mutation_p.G136V|A2M_uc009zgk.1_Missense_Mutation_p.G944V	p.G1094V	NM_000014	NP_000005	P01023	A2MG_HUMAN			27	3394	-			1094					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.3281G>T	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872597	0.91587	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.47177	0.85	5.86	5.86	0.93980	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.000000	0.85682	D	0.000000	T	0.81955	0.4932	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88057	0.2791	10	0.87932	D	0	.	19.7902	0.96453	0.0:1.0:0.0:0.0	.	1094	P01023	A2MG_HUMAN	V	1094;1109	ENSP00000323929:G1094V	ENSP00000323929:G1094V	G	-	2	0	A2M	9121279	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.889000	0.75627	2.780000	0.95670	0.585000	0.79938	GGA		0.453	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		7	24	1	0	7.48e-07	1.14e-06	7	24				
CLEC1B	51266	broad.mit.edu	37	12	10147807	10147807	+	Silent	SNP	G	G	T	rs377402728		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:10147807G>T	ENST00000298527.6	-	5	656	c.477C>A	c.(475-477)gtC>gtA	p.V159V	CLEC1B_ENST00000428126.2_Silent_p.V126V|CLEC1B_ENST00000348658.4_Silent_p.V126V	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	159	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						GAGATAATCCGACCCAACGAA	0.433																																						uc001qwu.2		NA																	0					0						c.(475-477)GTC>GTA		C-type lectin domain family 1, member B isoform							270.0	261.0	264.0					12																	10147807		1864	4092	5956	SO:0001819	synonymous_variant	51266				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	g.chr12:10147807G>T	AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"""C-type lectin domain containing"""	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.477C>A	12.37:g.10147807G>T						CLEC1B_uc009zhd.2_Silent_p.V126V	p.V159V	NM_016509	NP_057593	Q9P126	CLC1B_HUMAN			5	677	-			159			C-type lectin.|Extracellular (Potential).		Q6UWX7|Q8NHR6	Silent	SNP	ENST00000298527.6	37	c.477C>A	CCDS41752.1																																																																																				0.433	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399922.1	NM_016509		73	406	1	0	1.76e-36	3.34e-36	73	406				
PDE3A	5139	broad.mit.edu	37	12	20769241	20769241	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:20769241T>C	ENST00000359062.3	+	4	1387	c.1347T>C	c.(1345-1347)ggT>ggC	p.G449G	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	449					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CGGCCACAGGTCTACCCACCT	0.562																																						uc001reh.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(1345-1347)GGT>GGC		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						130.0	116.0	121.0					12																	20769241		2203	4300	6503	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20769241T>C		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1347T>C	12.37:g.20769241T>C							p.G449G	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			4	1369	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	449					O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.1347T>C	CCDS31754.1																																																																																				0.562	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			35	82	0	0	0	0	35	82				
SLCO1C1	53919	broad.mit.edu	37	12	20874784	20874784	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:20874784G>T	ENST00000266509.2	+	8	1190	c.822G>T	c.(820-822)tgG>tgT	p.W274C	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.W156C|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.W225C|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.W274C|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.W274C	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	274					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TAGGAGCCTGGTGGCTTGGCT	0.423																																						uc001rej.3		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(820-822)TGG>TGT		solute carrier organic anion transporter family,							75.0	74.0	74.0					12																	20874784		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20874784G>T	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.822G>T	12.37:g.20874784G>T	ENSP00000266509:p.Trp274Cys					SLCO1C1_uc010sii.1_Missense_Mutation_p.W274C|SLCO1C1_uc010sij.1_Missense_Mutation_p.W225C|SLCO1C1_uc009zip.2_Missense_Mutation_p.W108C|SLCO1C1_uc001rei.2_Missense_Mutation_p.W274C|SLCO1C1_uc010sik.1_Missense_Mutation_p.W156C	p.W274C	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			9	1177	+	Esophageal squamous(101;0.149)		274			Helical; Name=6; (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.822G>T	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032106	0.75504	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33	4.74	4.74	0.60224	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.93161	0.7822	H	0.96430	3.82	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;1.0;1.0	D	0.95184	0.8302	10	0.87932	D	0	.	18.2797	0.90094	0.0:0.0:1.0:0.0	.	156;225;274;274	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	C	274;225;274;274;156	ENSP00000444149:W274C;ENSP00000438665:W225C;ENSP00000266509:W274C;ENSP00000370964:W274C;ENSP00000444527:W156C	ENSP00000266509:W274C	W	+	3	0	SLCO1C1	20766051	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.169000	0.94788	2.612000	0.88384	0.467000	0.42956	TGG		0.423	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		18	32	1	0	2.46e-09	4e-09	18	32				
OVCH1	341350	broad.mit.edu	37	12	29630038	29630038	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:29630038T>C	ENST00000318184.5	-	12	1373	c.1374A>G	c.(1372-1374)atA>atG	p.I458M	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	458	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGCCTACCTTTATAATGTGCT	0.393																																						uc001rix.1		NA																	0				ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(1372-1374)ATA>ATG		ovochymase 1 precursor							72.0	71.0	71.0					12																	29630038		1884	4104	5988	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29630038T>C	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1374A>G	12.37:g.29630038T>C	ENSP00000326708:p.Ile458Met						p.I458M	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			12	1374	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		458			CUB 2.			Missense_Mutation	SNP	ENST00000318184.5	37	c.1374A>G		.	.	.	.	.	.	.	.	.	.	T	9.003	0.980626	0.18812	.	.	ENSG00000187950	ENST00000318184	T	0.58940	0.3	2.73	-1.1	0.09872	CUB (5);	.	.	.	.	T	0.53498	0.1800	M	0.87038	2.855	0.09310	N	1	P	0.38978	0.652	B	0.37267	0.245	T	0.52631	-0.8550	9	0.54805	T	0.06	.	0.5751	0.00702	0.1707:0.2189:0.1749:0.4355	.	458	Q7RTY7	OVCH1_HUMAN	M	458	ENSP00000326708:I458M	ENSP00000326708:I458M	I	-	3	3	OVCH1	29521305	0.177000	0.23109	0.000000	0.03702	0.124000	0.20399	-0.134000	0.10436	-0.246000	0.09611	-0.269000	0.10298	ATA		0.393	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		8	20	0	0	0	0	8	20				
KIF21A	55605	broad.mit.edu	37	12	39716684	39716684	+	Splice_Site	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:39716684C>A	ENST00000361418.5	-	27	3472	c.3457G>T	c.(3457-3459)Gcc>Tcc	p.A1153S	KIF21A_ENST00000547745.1_5'Flank|KIF21A_ENST00000395670.3_Splice_Site_p.A1153S|KIF21A_ENST00000361961.3_Splice_Site_p.A1140S|KIF21A_ENST00000544797.2_Splice_Site_p.A1133S|KIF21A_ENST00000541463.2_Splice_Site_p.A1117S			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1153					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTCCTTCGGGCCTAGTCAAAG	0.433																																						uc001rly.2		NA																	0				ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(3457-3459)GCC>TCC		kinesin family member 21A							111.0	106.0	107.0					12																	39716684		2203	4300	6503	SO:0001630	splice_region_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39716684C>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3457-1G>T	12.37:g.39716684C>A						KIF21A_uc001rlv.2_Missense_Mutation_p.A158S|KIF21A_uc001rlw.2_Missense_Mutation_p.A470S|KIF21A_uc001rlx.2_Missense_Mutation_p.A1140S|KIF21A_uc001rlz.2_Missense_Mutation_p.A1117S|KIF21A_uc010skl.1_Missense_Mutation_p.A1133S	p.A1153S	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			27	3603	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1153					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.3457G>T	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.69|18.69	3.678624|3.678624	0.68042|0.68042	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463|ENST00000552961	T;T;T;T;T;T|.	0.70749|.	-0.49;-0.44;0.26;-0.51;-0.39;-0.5|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|.	0.53938|.	D|.	0.000058|.	T|T	0.75072|0.75072	0.3800|0.3800	M|M	0.68952|0.68952	2.095|2.095	0.58432|0.58432	D|D	0.999999|0.999999	B;D;B;B;B;P|.	0.67145|.	0.312;0.996;0.017;0.084;0.373;0.47|.	B;D;B;B;B;B|.	0.77557|.	0.044;0.99;0.009;0.015;0.094;0.201|.	T|T	0.73739|0.73739	-0.3888|-0.3888	10|5	0.29301|.	T|.	0.29|.	.|.	19.0969|19.0969	0.93255|0.93255	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1133;1117;1153;1140;1153;200|.	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8|.	.;.;KI21A_HUMAN;.;.;.|.	S|S	1140;1153;1153;200;194;1133;1153;1117|500	ENSP00000354851:A1140S;ENSP00000379029:A1153S;ENSP00000448792:A194S;ENSP00000445606:A1133S;ENSP00000354878:A1153S;ENSP00000438075:A1117S|.	ENSP00000344501:A1153S|.	A|R	-|-	1|3	0|2	KIF21A|KIF21A	38002951|38002951	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.332000|7.332000	0.79203|0.79203	2.496000|2.496000	0.84212|0.84212	0.650000|0.650000	0.86243|0.86243	GCC|AGG		0.433	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	Missense_Mutation	23	73	1	0	3.62e-10	5.97e-10	23	73				
KIF21A	55605	broad.mit.edu	37	12	39724658	39724658	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:39724658T>G	ENST00000361418.5	-	23	3224	c.3209A>C	c.(3208-3210)aAa>aCa	p.K1070T	KIF21A_ENST00000395670.3_Missense_Mutation_p.K1070T|KIF21A_ENST00000361961.3_Missense_Mutation_p.K1057T|KIF21A_ENST00000544797.2_Missense_Mutation_p.K1057T|KIF21A_ENST00000541463.2_Missense_Mutation_p.K1034T			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1070					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTCTGTTTGTTTGAGTCGACC	0.403																																						uc001rly.2		NA																	0				ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(3208-3210)AAA>ACA		kinesin family member 21A							135.0	131.0	132.0					12																	39724658		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39724658T>G	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3209A>C	12.37:g.39724658T>G	ENSP00000354878:p.Lys1070Thr					KIF21A_uc001rlv.2_Missense_Mutation_p.K82T|KIF21A_uc001rlw.2_Missense_Mutation_p.K387T|KIF21A_uc001rlx.2_Missense_Mutation_p.K1057T|KIF21A_uc001rlz.2_Missense_Mutation_p.K1034T|KIF21A_uc010skl.1_Missense_Mutation_p.K1057T	p.K1070T	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			23	3355	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1070			Potential.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.3209A>C	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.7|22.7	4.328379|4.328379	0.81690|0.81690	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000551066|ENST00000552961	T;T;T;T;T;T;T|.	0.79554|.	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28|.	5.32|5.32	5.32|5.32	0.75619|0.75619	Prefoldin (1);|.	0.000000|.	0.56097|.	D|.	0.000036|.	T|T	0.71392|0.71392	0.3334|0.3334	L|L	0.61387|0.61387	1.9|1.9	0.58432|0.58432	D|D	0.999996|0.999996	D;P;D;D;D;D|.	0.89917|.	1.0;0.827;1.0;1.0;1.0;1.0|.	D;P;D;D;D;D|.	0.91635|.	0.996;0.602;0.98;0.996;0.999;0.999|.	T|T	0.70714|0.70714	-0.4796|-0.4796	10|5	0.44086|.	T|.	0.13|.	.|.	15.5693|15.5693	0.76320|0.76320	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1057;1034;1070;1057;1070;124|.	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8|.	.;.;KI21A_HUMAN;.;.;.|.	T|H	1057;1070;1070;124;118;1057;1070;1034;91|418	ENSP00000354851:K1057T;ENSP00000379029:K1070T;ENSP00000448792:K118T;ENSP00000445606:K1057T;ENSP00000354878:K1070T;ENSP00000438075:K1034T;ENSP00000447070:K91T|.	ENSP00000344501:K1070T|.	K|N	-|-	2|1	0|0	KIF21A|KIF21A	38010925|38010925	1.000000|1.000000	0.71417|0.71417	0.870000|0.870000	0.34147|0.34147	0.989000|0.989000	0.77384|0.77384	6.084000|6.084000	0.71335|0.71335	2.136000|2.136000	0.66102|0.66102	0.477000|0.477000	0.44152|0.44152	AAA|AAC		0.403	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		14	55	0	0	0	0	14	55				
CNTN1	1272	broad.mit.edu	37	12	41418967	41418967	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:41418967G>A	ENST00000551295.2	+	21	2656	c.2539G>A	c.(2539-2541)Gcc>Acc	p.A847T	CNTN1_ENST00000348761.2_Missense_Mutation_p.A836T|CNTN1_ENST00000347616.1_Missense_Mutation_p.A847T|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	847	Fibronectin type-III 3. {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)				GTATTGGGCTGCCCATGACAA	0.433																																						uc001rmm.1		NA																	0				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(2539-2541)GCC>ACC		contactin 1 isoform 1 precursor							99.0	112.0	108.0					12																	41418967		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41418967G>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.2539G>A	12.37:g.41418967G>A	ENSP00000447006:p.Ala847Thr					CNTN1_uc001rmn.1_Missense_Mutation_p.A836T	p.A847T	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			21	2652	+	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)	847			Fibronectin type-III 3.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.2539G>A	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	G	7.417	0.635843	0.14386	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.56611	0.45;0.45;0.45	4.78	-0.307	0.12777	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.341890	0.32273	N	0.006325	T	0.23330	0.0564	N	0.17800	0.525	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.09487	-1.0672	10	0.06891	T	0.86	.	0.7611	0.01007	0.2781:0.1217:0.351:0.2492	.	836;847	Q12860-2;Q12860	.;CNTN1_HUMAN	T	847;847;836	ENSP00000447006:A847T;ENSP00000325660:A847T;ENSP00000261160:A836T	ENSP00000325660:A847T	A	+	1	0	CNTN1	39705234	0.000000	0.05858	0.008000	0.14137	0.965000	0.64279	0.794000	0.26958	0.025000	0.15241	-0.137000	0.14449	GCC		0.433	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		37	174	0	0	0	0	37	174				
PCED1B	91523	broad.mit.edu	37	12	47629873	47629873	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:47629873T>C	ENST00000546455.1	+	4	1758	c.1027T>C	c.(1027-1029)Tcc>Ccc	p.S343P	PCED1B_ENST00000432328.1_Missense_Mutation_p.S343P|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	343	Pro-rich.						hydrolase activity (GO:0016787)										TGCCTGTTTTTCCTCAGACCA	0.547																																						uc001rpn.2		NA																	0				skin(3)|ovary(2)	5						c.(1027-1029)TCC>CCC		hypothetical protein LOC91523							157.0	158.0	157.0					12																	47629873		2203	4300	6503	SO:0001583	missense	91523						hydrolase activity	g.chr12:47629873T>C	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.1027T>C	12.37:g.47629873T>C	ENSP00000446688:p.Ser343Pro					FAM113B_uc001rpq.2_Missense_Mutation_p.S343P	p.S343P	NM_138371	NP_612380	Q96HM7	F113B_HUMAN			4	1758	+	Renal(347;0.138)|Lung SC(27;0.192)		343			Pro-rich.		Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.1027T>C	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.583815	0.28268	.	.	ENSG00000179715	ENST00000546455;ENST00000432328	T;T	0.33438	1.41;1.41	4.5	0.54	0.17163	.	0.617438	0.13607	N	0.375408	T	0.22437	0.0541	L	0.32530	0.975	0.09310	N	1	P	0.44578	0.838	P	0.44990	0.466	T	0.11108	-1.0601	10	0.29301	T	0.29	-7.7737	5.0603	0.14553	0.1949:0.0:0.3397:0.4654	.	343	Q96HM7	F113B_HUMAN	P	343	ENSP00000446688:S343P;ENSP00000396040:S343P	ENSP00000396040:S343P	S	+	1	0	FAM113B	45916140	0.001000	0.12720	0.000000	0.03702	0.116000	0.19942	-0.223000	0.09177	0.076000	0.16826	0.533000	0.62120	TCC		0.547	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		13	207	0	0	0	0	13	207				
ACVRL1	94	broad.mit.edu	37	12	52312877	52312877	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:52312877C>A	ENST00000388922.4	+	9	1638	c.1355C>A	c.(1354-1356)cCt>cAt	p.P452H	ACVRL1_ENST00000550683.1_Missense_Mutation_p.P466H|ACVRL1_ENST00000419526.2_Missense_Mutation_p.P278H	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	452	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCCACCATCCCTAACCGGCTG	0.587																																						uc001rzj.2		NA																	0				lung(2)	2	GRCh37	CM051000	ACVRL1	M		c.(1354-1356)CCT>CAT		activin A receptor type II-like 1 precursor	Adenosine triphosphate(DB00171)						101.0	81.0	87.0					12																	52312877		2203	4300	6503	SO:0001583	missense	94	Hereditary_Hemorrhagic_Telangiectasia			blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr12:52312877C>A	L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.1355C>A	12.37:g.52312877C>A	ENSP00000373574:p.Pro452His					ACVRL1_uc001rzk.2_Missense_Mutation_p.P452H|ACVRL1_uc010snm.1_Missense_Mutation_p.P278H	p.P452H	NM_000020	NP_000011	P37023	ACVL1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0991)	9	1638	+			452			Cytoplasmic (Potential).|Protein kinase.		A6NGA8	Missense_Mutation	SNP	ENST00000388922.4	37	c.1355C>A	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975487	0.53720	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000550683;ENST00000548659;ENST00000419526	D;D;D	0.93659	-3.26;-3.26;-3.26	4.89	3.99	0.46301	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.40302	N	0.001134	D	0.95449	0.8522	M	0.91038	3.17	0.47153	D	0.999335	P;B	0.40107	0.703;0.101	P;B	0.45753	0.492;0.222	D	0.95905	0.8918	10	0.66056	D	0.02	.	13.8378	0.63419	0.1545:0.8455:0.0:0.0	.	278;452	E7EN07;P37023	.;ACVL1_HUMAN	H	452;452;466;278;278	ENSP00000373574:P452H;ENSP00000447884:P466H;ENSP00000392492:P278H	ENSP00000267008:P452H	P	+	2	0	ACVRL1	50599144	0.925000	0.31364	1.000000	0.80357	0.995000	0.86356	1.793000	0.38764	1.405000	0.46838	0.561000	0.74099	CCT		0.587	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2			19	62	1	0	1.56e-12	2.67e-12	19	62				
KRT85	3891	broad.mit.edu	37	12	52756641	52756641	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:52756641G>T	ENST00000257901.3	-	6	1149	c.1074C>A	c.(1072-1074)tgC>tgA	p.C358*	KRT85_ENST00000544265.1_Nonsense_Mutation_p.C146*	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	358	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.C358*(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ACCCCACCTGGCACTTGGCAT	0.597																																						uc001sag.2		NA																	1	Substitution - Nonsense(1)		kidney(1)	ovary(1)	1						c.(1072-1074)TGC>TGA		keratin 85							134.0	111.0	119.0					12																	52756641		2203	4300	6503	SO:0001587	stop_gained	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52756641G>T	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.1074C>A	12.37:g.52756641G>T	ENSP00000257901:p.Cys358*						p.C358*	NM_002283	NP_002274	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	6	1194	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		358			Rod.|Coil 2.		Q9NSB1	Nonsense_Mutation	SNP	ENST00000257901.3	37	c.1074C>A	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307723	0.81247	.	.	ENSG00000135443	ENST00000257901;ENST00000544265	.	.	.	4.49	2.6	0.31112	.	0.092556	0.48767	D	0.000177	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	2.4354	0.04481	0.225:0.1309:0.5098:0.1343	.	.	.	.	X	358;146	.	ENSP00000257901:C358X	C	-	3	2	KRT85	51042908	0.011000	0.17503	1.000000	0.80357	0.959000	0.62525	0.094000	0.15107	1.117000	0.41842	0.561000	0.74099	TGC		0.597	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		57	97	1	0	3.89e-19	7.11e-19	57	97				
OR10A7	121364	broad.mit.edu	37	12	55614811	55614811	+	Start_Codon_SNP	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:55614811G>C	ENST00000326258.1	+	1	3	c.3G>C	c.(1-3)atG>atC	p.M1I		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TCTAAGATATGATCTGTGAAA	0.313																																						uc010spf.1		NA																	0				ovary(4)	4						c.(1-3)ATG>ATC		olfactory receptor, family 10, subfamily A,							117.0	123.0	121.0					12																	55614811		2202	4299	6501	SO:0001582	initiator_codon_variant	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55614811G>C	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.3G>C	12.37:g.55614811G>C	ENSP00000326718:p.Met1Ile						p.M1I	NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN			1	3	+			1			Extracellular (Potential).		Q6IFD5|Q96R19	Missense_Mutation	SNP	ENST00000326258.1	37	c.3G>C	CCDS31815.1	.	.	.	.	.	.	.	.	.	.	g	6.409	0.443535	0.12164	.	.	ENSG00000179919	ENST00000326258	T	0.39229	1.09	2.91	2.01	0.26516	.	0.131289	0.34268	N	0.004109	T	0.41190	0.1148	.	.	.	0.38855	D	0.956367	P	0.37122	0.583	P	0.44946	0.465	T	0.41106	-0.9527	9	0.87932	D	0	.	5.5339	0.17001	0.1171:0.0:0.6868:0.1962	.	1	Q8NGE5	O10A7_HUMAN	I	1	ENSP00000326718:M1I	ENSP00000326718:M1I	M	+	3	0	OR10A7	53901078	0.861000	0.29849	0.453000	0.27007	0.546000	0.35178	1.934000	0.40163	0.797000	0.33971	0.637000	0.83480	ATG		0.313	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1		Missense_Mutation	24	108	0	0	0	0	24	108				
LRP1	4035	broad.mit.edu	37	12	57578167	57578167	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:57578167G>A	ENST00000243077.3	+	38	6584	c.6118G>A	c.(6118-6120)Ggc>Agc	p.G2040S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2040					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCGGCTAGATGGCACGGAGCG	0.597																																						uc001snd.2		NA																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(6118-6120)GGC>AGC		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						141.0	111.0	121.0					12																	57578167		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57578167G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6118G>A	12.37:g.57578167G>A	ENSP00000243077:p.Gly2040Ser						p.G2040S	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	38	6584	+			2040			LDL-receptor class B 19.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.6118G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535733	0.85812	.	.	ENSG00000123384	ENST00000243077	D	0.99214	-5.57	5.3	5.3	0.74995	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.99616	0.9860	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97802	1.0245	10	0.87932	D	0	.	17.7312	0.88378	0.0:0.0:1.0:0.0	.	2040	Q07954	LRP1_HUMAN	S	2040	ENSP00000243077:G2040S	ENSP00000243077:G2040S	G	+	1	0	LRP1	55864434	1.000000	0.71417	0.533000	0.28001	0.056000	0.15407	9.869000	0.99810	2.480000	0.83734	0.561000	0.74099	GGC		0.597	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		27	49	0	0	0	0	27	49				
KIF5A	3798	broad.mit.edu	37	12	57969038	57969038	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:57969038C>G	ENST00000455537.2	+	16	2162	c.1888C>G	c.(1888-1890)Cag>Gag	p.Q630E	KIF5A_ENST00000286452.5_Missense_Mutation_p.Q541E	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	630					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CTCATCCTGCCAGCTCCTCAT	0.552																																						uc001sor.1		NA																	0				ovary(2)|skin(1)	3						c.(1888-1890)CAG>GAG		kinesin family member 5A							40.0	39.0	39.0					12																	57969038		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57969038C>G	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.1888C>G	12.37:g.57969038C>G	ENSP00000408979:p.Gln630Glu					KIF5A_uc010srr.1_Missense_Mutation_p.Q541E	p.Q630E	NM_004984	NP_004975	Q12840	KIF5A_HUMAN			16	2096	+			630					A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.1888C>G	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.640927	0.67244	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	T;T	0.78816	-1.21;-1.21	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.77438	0.4130	M	0.64404	1.975	0.80722	D	1	B;B	0.32425	0.371;0.371	B;B	0.35607	0.206;0.206	T	0.79453	-0.1797	10	0.56958	D	0.05	.	16.5549	0.84482	0.0:1.0:0.0:0.0	.	541;630	B7Z2M7;Q12840	.;KIF5A_HUMAN	E	630;541	ENSP00000408979:Q630E;ENSP00000286452:Q541E	ENSP00000286452:Q541E	Q	+	1	0	KIF5A	56255305	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.581000	0.82535	2.504000	0.84457	0.655000	0.94253	CAG		0.552	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		3	20	0	0	0	0	3	20				
FAM19A2	338811	broad.mit.edu	37	12	62147483	62147483	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:62147483G>T	ENST00000416284.3	-	4	1888	c.304C>A	c.(304-306)Cta>Ata	p.L102I	FAM19A2_ENST00000551619.1_Missense_Mutation_p.L102I|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000550003.1_Missense_Mutation_p.L5I	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	102						cytoplasm (GO:0005737)				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TCTCCCTCTAGACATGGCTGC	0.403																																						uc001sqw.2		NA																	0				ovary(1)	1						c.(304-306)CTA>ATA		family with sequence similarity 19 (chemokine							125.0	114.0	118.0					12																	62147483		2203	4300	6503	SO:0001583	missense	338811					cytoplasm		g.chr12:62147483G>T	AY325115	CCDS8962.1	12q14.1	2012-10-03			ENSG00000198673	ENSG00000198673			21589	protein-coding gene	gene with protein product						15028294	Standard	NM_178539		Approved	TAFA-2	uc001sqw.3	Q8N3H0	OTTHUMG00000170207	ENST00000416284.3:c.304C>A	12.37:g.62147483G>T	ENSP00000393987:p.Leu102Ile					FAM19A2_uc001sqv.2_RNA|FAM19A2_uc001sqx.2_Missense_Mutation_p.L102I|FAM19A2_uc001sqy.2_RNA	p.L102I	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)	4	1817	-			102					B3KVV4|Q4G0R9|Q68DK0|Q6GTX6	Missense_Mutation	SNP	ENST00000416284.3	37	c.304C>A	CCDS8962.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568544	0.45798	.	.	ENSG00000198673	ENST00000416284;ENST00000551619;ENST00000550003;ENST00000552075	.	.	.	4.64	3.75	0.43078	.	0.000000	0.64402	D	0.000001	T	0.55625	0.1932	M	0.62723	1.935	0.80722	D	1	P	0.41710	0.76	B	0.41440	0.357	T	0.55186	-0.8180	8	.	.	.	.	12.7019	0.57038	0.0805:0.0:0.9195:0.0	.	102	Q8N3H0	F19A2_HUMAN	I	102;102;5;103	.	.	L	-	1	2	FAM19A2	60433750	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.100000	0.41777	0.959000	0.37980	0.557000	0.71058	CTA		0.403	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407967.2	NM_178539		37	79	1	0	6.03e-27	1.13e-26	37	79				
C12orf66	144577	broad.mit.edu	37	12	64587735	64587735	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:64587735C>T	ENST00000398055.3	-	3	1278	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	C12orf66_ENST00000311915.8_Missense_Mutation_p.E409K|C12orf66_ENST00000544871.1_Missense_Mutation_p.E356K	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	409										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						TTCTTTGACTCAAAAATGATG	0.443																																						uc001srw.3		NA																	0				ovary(1)	1						c.(1225-1227)GAG>AAG		hypothetical protein LOC144577							118.0	112.0	114.0					12																	64587735		1851	4088	5939	SO:0001583	missense	144577							g.chr12:64587735C>T		CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.1225G>A	12.37:g.64587735C>T	ENSP00000381132:p.Glu409Lys					C12orf66_uc009zql.2_Missense_Mutation_p.E356K	p.E409K	NM_152440	NP_689653	Q96MD2	CL066_HUMAN			3	1284	-			409					C9JX54|Q8IYA0	Missense_Mutation	SNP	ENST00000398055.3	37	c.1225G>A	CCDS41803.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607071	0.66558	.	.	ENSG00000174206	ENST00000311915;ENST00000544871;ENST00000398055	T;T;T	0.33865	1.39;1.39;1.39	6.07	6.07	0.98685	.	0.042347	0.85682	D	0.000000	T	0.47322	0.1439	L	0.53249	1.67	0.80722	D	1	P;P	0.45348	0.827;0.856	B;P	0.48454	0.442;0.578	T	0.12451	-1.0547	9	.	.	.	-27.334	20.6593	0.99626	0.0:1.0:0.0:0.0	.	356;409	F5H2Q3;Q96MD2	.;CL066_HUMAN	K	409;356;409	ENSP00000311486:E409K;ENSP00000445481:E356K;ENSP00000381132:E409K	.	E	-	1	0	C12orf66	62874002	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	7.755000	0.85180	2.885000	0.99019	0.655000	0.94253	GAG		0.443	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400921.1	NM_152440		55	112	0	0	0	0	55	112				
IFNG	3458	broad.mit.edu	37	12	68551716	68551716	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:68551716A>T	ENST00000229135.3	-	3	474	c.343T>A	c.(343-345)Ttc>Atc	p.F115I	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	115					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell cycle arrest (GO:0007050)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to interleukin-18 (GO:0071351)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|extrinsic apoptotic signaling pathway (GO:0097191)|humoral immune response (GO:0006959)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of myelination (GO:0031642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil apoptotic process (GO:0001781)|neutrophil chemotaxis (GO:0030593)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity (GO:0060550)|positive regulation of fructose 1,6-bisphosphate metabolic process (GO:0060552)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|regulation of insulin secretion (GO:0050796)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of the force of heart contraction (GO:0002026)|response to drug (GO:0042493)|response to virus (GO:0009615)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|interferon-gamma receptor binding (GO:0005133)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Olsalazine(DB01250)	AGCTTTTCGAAGTCATCTCGT	0.368																																						uc001stw.1		NA																	0					0						c.(343-345)TTC>ATC		interferon, gamma precursor	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)						164.0	160.0	161.0					12																	68551716		2203	4300	6503	SO:0001583	missense	3458				cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding	g.chr12:68551716A>T		CCDS8980.1	12q14	2007-10-17			ENSG00000111537	ENSG00000111537		"""Interferons"""	5438	protein-coding gene	gene with protein product		147570					Standard	NM_000619		Approved		uc001stw.1	P01579	OTTHUMG00000169113	ENST00000229135.3:c.343T>A	12.37:g.68551716A>T	ENSP00000229135:p.Phe115Ile						p.F115I	NM_000619	NP_000610	P01579	IFNG_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	3	469	-			115					B5BU88|Q53ZV4	Missense_Mutation	SNP	ENST00000229135.3	37	c.343T>A	CCDS8980.1	.	.	.	.	.	.	.	.	.	.	A	16.58	3.163536	0.57476	.	.	ENSG00000111537	ENST00000229135	T	0.59502	0.26	5.38	4.24	0.50183	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.297132	0.35040	N	0.003485	T	0.69287	0.3094	M	0.72894	2.215	0.09310	N	0.999996	D	0.89917	1.0	D	0.69654	0.965	T	0.60520	-0.7247	9	.	.	.	0.0027	7.4051	0.26985	0.9045:0.0:0.0955:0.0	.	115	P01579	IFNG_HUMAN	I	115	ENSP00000229135:F115I	.	F	-	1	0	IFNG	66837983	0.968000	0.33430	0.045000	0.18777	0.001000	0.01503	1.904000	0.39868	2.171000	0.68590	0.533000	0.62120	TTC		0.368	IFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402301.1			24	94	0	0	0	0	24	94				
IL26	55801	broad.mit.edu	37	12	68595635	68595635	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:68595635C>T	ENST00000229134.4	-	5	570	c.506G>A	c.(505-507)aGc>aAc	p.S169N	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	169					cell-cell signaling (GO:0007267)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		TTACTGACTGCTTTCCAATAA	0.294																																						uc001stx.1		NA																	0					0						c.(505-507)AGC>AAC		interleukin 26 precursor							56.0	60.0	59.0					12																	68595635		2201	4290	6491	SO:0001583	missense	55801				cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity	g.chr12:68595635C>T	AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536		"""Interleukins and interleukin receptors"""	17119	protein-coding gene	gene with protein product		605679				10729163, 11528524	Standard	NM_018402		Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.506G>A	12.37:g.68595635C>T	ENSP00000229134:p.Ser169Asn						p.S169N	NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)	5	541	-			169						Missense_Mutation	SNP	ENST00000229134.4	37	c.506G>A	CCDS8981.1	.	.	.	.	.	.	.	.	.	.	C	0.371	-0.933920	0.02340	.	.	ENSG00000111536	ENST00000229134	T	0.77098	-1.07	5.19	0.969	0.19686	.	0.421555	0.22264	N	0.062367	T	0.61438	0.2347	L	0.34521	1.04	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.43507	-0.9387	9	.	.	.	-20.1179	7.0111	0.24863	0.0:0.5848:0.0:0.4152	.	169	Q9NPH9	IL26_HUMAN	N	169	ENSP00000229134:S169N	.	S	-	2	0	IL26	66881902	0.006000	0.16342	0.212000	0.23672	0.029000	0.11900	-0.331000	0.07914	0.206000	0.20587	0.563000	0.77884	AGC		0.294	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402302.1	NM_018402		19	30	0	0	0	0	19	30				
TPH2	121278	broad.mit.edu	37	12	72425354	72425354	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:72425354C>T	ENST00000333850.3	+	11	1493	c.1352C>T	c.(1351-1353)aCa>aTa	p.T451I		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	451					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AATCCCTACACACAGAGTATT	0.408																																						uc009zrw.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1351-1353)ACA>ATA		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						115.0	106.0	109.0					12																	72425354		2203	4299	6502	SO:0001583	missense	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72425354C>T	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.1352C>T	12.37:g.72425354C>T	ENSP00000329093:p.Thr451Ile					TPH2_uc001swy.2_Missense_Mutation_p.T361I	p.T451I	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN			11	1493	+			451					A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	c.1352C>T	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377063	0.82682	.	.	ENSG00000139287	ENST00000333850	D	0.99730	-6.56	5.82	5.82	0.92795	Aromatic amino acid hydroxylase, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99764	0.9904	M	0.90309	3.105	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	D	0.97680	1.0172	10	0.87932	D	0	-19.1467	20.1663	0.98152	0.0:1.0:0.0:0.0	.	451	Q8IWU9	TPH2_HUMAN	I	451	ENSP00000329093:T451I	ENSP00000329093:T451I	T	+	2	0	TPH2	70711621	1.000000	0.71417	0.996000	0.52242	0.849000	0.48306	7.815000	0.86186	2.773000	0.95371	0.586000	0.80456	ACA		0.408	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		15	72	0	0	0	0	15	72				
TRHDE	29953	broad.mit.edu	37	12	72771839	72771839	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:72771839C>G	ENST00000261180.4	+	3	1214	c.1118C>G	c.(1117-1119)aCa>aGa	p.T373R		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	373					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						CTCCATATAACAAAGAGATTA	0.333																																						uc001sxa.2		NA																	0				ovary(2)|skin(1)	3						c.(1117-1119)ACA>AGA		thyrotropin-releasing hormone degrading enzyme							69.0	73.0	72.0					12																	72771839		2203	4296	6499	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72771839C>G	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.1118C>G	12.37:g.72771839C>G	ENSP00000261180:p.Thr373Arg						p.T373R	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			3	1148	+			373			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.1118C>G	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059176	0.76074	.	.	ENSG00000072657	ENST00000261180	T	0.06218	3.33	5.57	5.57	0.84162	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.29355	0.0731	M	0.87381	2.88	0.80722	D	1	D	0.65815	0.995	P	0.60789	0.879	T	0.04767	-1.0928	10	0.66056	D	0.02	.	19.5437	0.95283	0.0:1.0:0.0:0.0	.	373	Q9UKU6	TRHDE_HUMAN	R	373	ENSP00000261180:T373R	ENSP00000261180:T373R	T	+	2	0	TRHDE	71058106	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.303000	0.78871	2.645000	0.89757	0.585000	0.79938	ACA		0.333	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		21	88	0	0	0	0	21	88				
TMTC2	160335	broad.mit.edu	37	12	83251085	83251085	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:83251085C>G	ENST00000321196.3	+	2	1087	c.380C>G	c.(379-381)cCc>cGc	p.P127R	TMTC2_ENST00000549919.1_Missense_Mutation_p.P121R|TMTC2_ENST00000548305.1_Missense_Mutation_p.P127R	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	127					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GCTTCTCACCCCATTCACACG	0.517																																						uc001szt.2		NA																	0				ovary(2)	2						c.(379-381)CCC>CGC		transmembrane and tetratricopeptide repeat							122.0	109.0	113.0					12																	83251085		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83251085C>G	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.380C>G	12.37:g.83251085C>G	ENSP00000322300:p.Pro127Arg					TMTC2_uc001szr.1_Missense_Mutation_p.P127R|TMTC2_uc001szs.1_Missense_Mutation_p.P127R|TMTC2_uc010suk.1_Intron	p.P127R	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN			2	812	+			127			Helical; (Potential).		B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.380C>G	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895063	0.72639	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919	D;D;D	0.93547	-2.69;-3.24;-2.8	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.98015	0.9346	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98951	1.0794	10	0.87932	D	0	-22.7286	18.1624	0.89712	0.0:1.0:0.0:0.0	.	127;127	Q8N394;F8VSH2	TMTC2_HUMAN;.	R	127;127;121	ENSP00000322300:P127R;ENSP00000448292:P127R;ENSP00000447609:P121R	ENSP00000322300:P127R	P	+	2	0	TMTC2	81775216	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	7.252000	0.78309	2.788000	0.95919	0.650000	0.86243	CCC		0.517	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		18	69	0	0	0	0	18	69				
CEP290	80184	broad.mit.edu	37	12	88478552	88478552	+	Silent	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:88478552C>G	ENST00000552810.1	-	35	4858	c.4515G>C	c.(4513-4515)ctG>ctC	p.L1505L	CEP290_ENST00000397838.3_Silent_p.L565L|CEP290_ENST00000309041.7_Silent_p.L1507L|CEP290_ENST00000547691.2_Silent_p.L565L	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1505					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						ATCGAAGCCTCAGTTCATTGA	0.363																																						uc001tar.2		NA																	0				ovary(5)|breast(1)|pancreas(1)	7						c.(4513-4515)CTG>CTC		centrosomal protein 290kDa							116.0	107.0	110.0					12																	88478552		1841	4089	5930	SO:0001819	synonymous_variant	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88478552C>G	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.4515G>C	12.37:g.88478552C>G						CEP290_uc001taq.2_Silent_p.L565L	p.L1505L	NM_025114	NP_079390	O15078	CE290_HUMAN			35	4859	-			1505					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Silent	SNP	ENST00000552810.1	37	c.4515G>C	CCDS55858.1																																																																																				0.363	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		20	56	0	0	0	0	20	56				
C12orf74	338809	broad.mit.edu	37	12	93101490	93101490	+	Nonstop_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:93101490G>T	ENST00000397833.3	+	3	1023	c.572G>T	c.(571-573)tGa>tTa	p.*191L	C12orf74_ENST00000544406.2_3'UTR	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	0										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						GACATCTGTTGACTATTTACT	0.363																																						uc001tch.1		NA																	0					0						c.(571-573)TGA>TTA		hypothetical protein LOC338809							150.0	130.0	136.0					12																	93101490		1832	4093	5925	SO:0001578	stop_lost	338809							g.chr12:93101490G>T	BC043363	CCDS41819.1, CCDS53818.1	12q22	2012-08-16			ENSG00000214215	ENSG00000214215			27887	protein-coding gene	gene with protein product						12477932	Standard	NM_001037671		Approved		uc001tch.2	Q32Q52	OTTHUMG00000170105	ENST00000397833.3:c.572G>T	12.37:g.93101490G>T	ENSP00000380933:p.*191Leuext*11					C12orf74_uc001tci.2_3'UTR	p.*191L	NM_001037671	NP_001032760	Q32Q52	CL074_HUMAN			3	802	+			191					F5H4P0	Nonstop_Mutation	SNP	ENST00000397833.3	37	c.572G>T	CCDS41819.1	.	.	.	.	.	.	.	.	.	.	G	6.787	0.514093	0.12944	.	.	ENSG00000214215	ENST00000397833	.	.	.	5.2	1.21	0.21127	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.3402	0.15979	0.1846:0.3442:0.4711:0.0	.	.	.	.	L	191	.	.	X	+	2	2	C12orf74	91625621	0.001000	0.12720	0.001000	0.08648	0.093000	0.18481	0.118000	0.15605	0.117000	0.18138	0.555000	0.69702	TGA		0.363	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407285.1	NM_001037671		6	32	1	0	0.00198382	0.00272549	6	32				
ELK3	2004	broad.mit.edu	37	12	96641260	96641260	+	Silent	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:96641260A>C	ENST00000228741.3	+	3	1076	c.750A>C	c.(748-750)tcA>tcC	p.S250S	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	250					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CCCCCAACTCACCCCTCCCTT	0.582																																						uc001teo.1		NA																	0				ovary(1)	1						c.(748-750)TCA>TCC		ELK3 protein							64.0	72.0	70.0					12																	96641260		2203	4300	6503	SO:0001819	synonymous_variant	2004				negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:96641260A>C	BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.750A>C	12.37:g.96641260A>C							p.S250S	NM_005230	NP_005221	P41970	ELK3_HUMAN			3	1029	+	all_cancers(2;0.00173)		250					B2R6S6|Q6FG57|Q6GU29|Q9UD17	Silent	SNP	ENST00000228741.3	37	c.750A>C	CCDS9060.1																																																																																				0.582	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1	NM_005230		6	136	0	0	0	0	6	136				
SSH1	54434	broad.mit.edu	37	12	109182593	109182593	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:109182593T>C	ENST00000326495.5	-	15	2414	c.2321A>G	c.(2320-2322)aAg>aGg	p.K774R	SSH1_ENST00000360239.3_Missense_Mutation_p.K462R	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	774					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGATTCTTCCTTTATTACCAC	0.468																																						uc001tnm.2		NA																	0				ovary(4)	4						c.(2320-2322)AAG>AGG		slingshot 1 isoform 1							106.0	112.0	110.0					12																	109182593		2203	4300	6503	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109182593T>C	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.2321A>G	12.37:g.109182593T>C	ENSP00000315713:p.Lys774Arg					SSH1_uc001tnl.2_Missense_Mutation_p.K462R	p.K774R	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN			15	2408	-			774					Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.2321A>G	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	T	5.515	0.279948	0.10458	.	.	ENSG00000084112	ENST00000360239;ENST00000326495	T;T	0.14144	2.67;2.53	5.04	2.71	0.32032	.	3.738960	0.00496	N	0.000153	T	0.16811	0.0404	M	0.62723	1.935	0.09310	N	1	B;B	0.19583	0.002;0.037	B;B	0.19148	0.002;0.024	T	0.40365	-0.9567	10	0.13108	T	0.6	-25.424	6.9725	0.24656	0.0:0.2633:0.0:0.7367	.	774;462	Q8WYL5;Q8WYL5-4	SSH1_HUMAN;.	R	462;774	ENSP00000353374:K462R;ENSP00000315713:K774R	ENSP00000315713:K774R	K	-	2	0	SSH1	107706722	0.023000	0.18921	0.234000	0.24042	0.396000	0.30629	0.372000	0.20467	0.774000	0.33427	0.533000	0.62120	AAG		0.468	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		65	89	0	0	0	0	65	89				
TRPV4	59341	broad.mit.edu	37	12	110230484	110230484	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:110230484C>A	ENST00000418703.2	-	10	1891	c.1797G>T	c.(1795-1797)acG>acT	p.T599T	TRPV4_ENST00000544971.1_Silent_p.T492T|TRPV4_ENST00000536838.1_Silent_p.T565T|TRPV4_ENST00000541794.1_Silent_p.T552T|TRPV4_ENST00000261740.2_Silent_p.T599T|TRPV4_ENST00000346520.2_Silent_p.T539T|TRPV4_ENST00000537083.1_Silent_p.T539T|TRPV4_ENST00000392719.2_Silent_p.T552T	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	599					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)	p.T599T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TATAGGTCCCCGTCAGCTTCA	0.577																																						uc001tpj.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(1795-1797)ACG>ACT		transient receptor potential cation channel,							97.0	78.0	85.0					12																	110230484		2203	4300	6503	SO:0001819	synonymous_variant	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110230484C>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1797G>T	12.37:g.110230484C>A						TRPV4_uc001tpg.1_Silent_p.T565T|TRPV4_uc001tph.1_Silent_p.T552T|TRPV4_uc001tpi.1_Silent_p.T492T|TRPV4_uc001tpk.1_Silent_p.T599T|TRPV4_uc001tpl.1_Silent_p.T539T	p.T599T	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN			10	1892	-			599			Cytoplasmic (Potential).		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	ENST00000418703.2	37	c.1797G>T	CCDS9134.1																																																																																				0.577	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		22	41	1	0	1.87e-06	2.81e-06	22	41				
HVCN1	84329	broad.mit.edu	37	12	111089187	111089187	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:111089187C>G	ENST00000356742.5	-	5	1231	c.478G>C	c.(478-480)Gtc>Ctc	p.V160L	HVCN1_ENST00000242607.8_Missense_Mutation_p.V160L|HVCN1_ENST00000548312.1_Missense_Mutation_p.V160L|HVCN1_ENST00000439744.2_Missense_Mutation_p.V140L			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	160					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						AGGCGGAAGACAAATAATTTA	0.468																																						uc001trs.1		NA																	0				skin(1)	1						c.(478-480)GTC>CTC		hydrogen voltage-gated channel 1							103.0	105.0	104.0					12																	111089187		2203	4300	6503	SO:0001583	missense	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111089187C>G	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.478G>C	12.37:g.111089187C>G	ENSP00000349181:p.Val160Leu					HVCN1_uc001trq.1_Missense_Mutation_p.V160L|HVCN1_uc001trt.1_Missense_Mutation_p.V160L|HVCN1_uc010syd.1_Missense_Mutation_p.V140L	p.V160L	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN			6	643	-			160			Cytoplasmic (Potential).		A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Missense_Mutation	SNP	ENST00000356742.5	37	c.478G>C	CCDS31900.1	.	.	.	.	.	.	.	.	.	.	c	20.5	4.008964	0.75046	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000439744	D;D;D;D	0.98419	-4.92;-4.92;-4.92;-4.92	5.51	4.63	0.57726	Ion transport (1);	0.055062	0.64402	D	0.000001	D	0.98330	0.9446	M	0.89414	3.03	0.37613	D	0.921029	P;B	0.49862	0.929;0.3	P;B	0.52309	0.695;0.104	D	0.99429	1.0935	10	0.46703	T	0.11	-45.4728	9.8867	0.41266	0.1389:0.7887:0.0:0.0723	.	160;160	Q96D96;Q96D96-3	HVCN1_HUMAN;.	L	160;160;160;140	ENSP00000449601:V160L;ENSP00000242607:V160L;ENSP00000349181:V160L;ENSP00000412052:V140L	ENSP00000242607:V160L	V	-	1	0	HVCN1	109573570	0.999000	0.42202	0.766000	0.31476	0.716000	0.41182	4.070000	0.57548	1.335000	0.45486	0.486000	0.48141	GTC		0.468	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		32	54	0	0	0	0	32	54				
NOS1	4842	broad.mit.edu	37	12	117662875	117662875	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:117662875T>C	ENST00000338101.4	-	25	3878	c.3874A>G	c.(3874-3876)Att>Gtt	p.I1292V	NOS1_ENST00000317775.6_Missense_Mutation_p.I1258V|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		AAAGGGGCAATGCCGGTGCCT	0.602																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1		NA																	0				ovary(3)|skin(3)|pancreas(1)	7						c.(3772-3774)ATT>GTT		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						117.0	131.0	126.0					12																	117662875		1951	4143	6094	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117662875T>C		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3874A>G	12.37:g.117662875T>C	ENSP00000337459:p.Ile1292Val						p.I1258V	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	25	4458	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1258			NADP (By similarity).			Missense_Mutation	SNP	ENST00000338101.4	37	c.3772A>G	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.740242	0.89573	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000338101	T;T	0.68765	-0.35;-0.35	4.93	4.93	0.64822	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.000000	0.85682	D	0.000000	T	0.75148	0.3810	L	0.41961	1.31	0.80722	D	1	P	0.51147	0.942	D	0.66847	0.947	T	0.76825	-0.2816	10	0.56958	D	0.05	-28.0517	14.7345	0.69406	0.0:0.0:0.0:1.0	.	1258	P29475	NOS1_HUMAN	V	1153;1258;1292	ENSP00000320758:I1258V;ENSP00000337459:I1292V	ENSP00000320758:I1258V	I	-	1	0	NOS1	116147258	1.000000	0.71417	0.996000	0.52242	0.863000	0.49368	6.111000	0.71541	2.066000	0.61787	0.459000	0.35465	ATT		0.602	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			86	133	0	0	0	0	86	133				
CLIP1	6249	broad.mit.edu	37	12	122825885	122825885	+	Silent	SNP	T	T	A	rs150031777		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:122825885T>A	ENST00000540338.1	-	10	1907	c.1866A>T	c.(1864-1866)ctA>ctT	p.L622L	CLIP1_ENST00000361654.4_Silent_p.L576L|CLIP1_ENST00000358808.2_Silent_p.L611L|CLIP1_ENST00000537178.1_Silent_p.L576L|CLIP1_ENST00000545889.1_Silent_p.L312L|CLIP1_ENST00000302528.7_Silent_p.L611L			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	622					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TGGACTTCCATAGAGCTATCA	0.488																																						uc001ucg.1		NA																	0				ovary(2)|breast(1)	3						c.(1864-1866)CTA>CTT		restin isoform a							141.0	127.0	132.0					12																	122825885		2203	4300	6503	SO:0001819	synonymous_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122825885T>A		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.1866A>T	12.37:g.122825885T>A						CLIP1_uc001uch.1_Silent_p.L611L|CLIP1_uc001uci.1_Silent_p.L576L|CLIP1_uc001ucj.1_Silent_p.L312L|CLIP1_uc009zxo.1_Silent_p.L178L	p.L622L	NM_002956	NP_002947	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	10	1972	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		622			Potential.		A0AVD3|Q17RS4|Q29RG0	Silent	SNP	ENST00000540338.1	37	c.1866A>T	CCDS58285.1																																																																																				0.488	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		76	105	0	0	0	0	76	105				
TMEM132B	114795	broad.mit.edu	37	12	126004094	126004094	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:126004094G>T	ENST00000299308.3	+	4	1209	c.1201G>T	c.(1201-1203)Gac>Tac	p.D401Y		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	401						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCCGATTGAGGACTCCATGAG	0.532																																						uc001uhe.1		NA																	0				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(1201-1203)GAC>TAC		transmembrane protein 132B							102.0	103.0	102.0					12																	126004094		1936	4122	6058	SO:0001583	missense	114795					integral to membrane		g.chr12:126004094G>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1201G>T	12.37:g.126004094G>T	ENSP00000299308:p.Asp401Tyr						p.D401Y	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	4	1209	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		401			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.1201G>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	g	20.6	4.017521	0.75161	.	.	ENSG00000139364	ENST00000299308	T	0.21191	2.02	4.94	4.94	0.65067	.	67.968700	0.01266	U	0.009330	T	0.42743	0.1216	L	0.39898	1.24	0.80722	D	1	D	0.59357	0.985	P	0.57620	0.824	T	0.12218	-1.0556	10	0.72032	D	0.01	.	18.4336	0.90636	0.0:0.0:1.0:0.0	.	401	Q14DG7	T132B_HUMAN	Y	401	ENSP00000299308:D401Y	ENSP00000299308:D401Y	D	+	1	0	TMEM132B	124570047	1.000000	0.71417	0.499000	0.27577	0.993000	0.82548	4.230000	0.58632	2.334000	0.79466	0.621000	0.83404	GAC		0.532	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		15	98	1	0	2.32e-05	3.38e-05	15	98				
EP400	57634	broad.mit.edu	37	12	132491392	132491392	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr12:132491392G>A	ENST00000333577.4	+	16	3491	c.3382G>A	c.(3382-3384)Gct>Act	p.A1128T	EP400_ENST00000389562.2_Missense_Mutation_p.A1091T|EP400_ENST00000332482.4_Missense_Mutation_p.A1055T|EP400_ENST00000389561.2_Missense_Mutation_p.A1092T|EP400_ENST00000330386.6_Missense_Mutation_p.A1092T			Q96L91	EP400_HUMAN	E1A binding protein p400	1128	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GCAGATCATTGCTTTTTTTGC	0.428																																						uc001ujn.2		NA																	0				central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(3274-3276)GCT>ACT		E1A binding protein p400							125.0	124.0	124.0					12																	132491392		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132491392G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.3382G>A	12.37:g.132491392G>A	ENSP00000333602:p.Ala1128Thr					EP400_uc001ujl.2_Missense_Mutation_p.A1091T|EP400_uc001ujm.2_Missense_Mutation_p.A1092T	p.A1092T	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	14	3309	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1128			Interactions with RUVBL1 and RUVBL2.|Helicase ATP-binding.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.3274G>A		.	.	.	.	.	.	.	.	.	.	G	13.37	2.216982	0.39201	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.96620	0.8897	M	0.70108	2.13	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.96573	0.9424	10	0.87932	D	0	.	20.1238	0.97972	0.0:0.0:1.0:0.0	.	1092;1092;1091	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	T	1128;1092;1091;1055;1092;1092;1092	ENSP00000333602:A1128T;ENSP00000374212:A1092T;ENSP00000374213:A1091T;ENSP00000331737:A1055T;ENSP00000330620:A1092T	ENSP00000330620:A1092T	A	+	1	0	EP400	131057345	1.000000	0.71417	0.906000	0.35671	0.030000	0.12068	7.969000	0.87988	2.750000	0.94351	0.591000	0.81541	GCT		0.428	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		24	36	0	0	0	0	24	36				
ELF1	1997	broad.mit.edu	37	13	41515109	41515109	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr13:41515109T>C	ENST00000239882.3	-	8	1518	c.1204A>G	c.(1204-1206)Aga>Gga	p.R402G	ELF1_ENST00000442101.1_Missense_Mutation_p.R378G|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	402					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		GTACTGGTTCTAGCTGCTTCT	0.468																																						uc001uxs.2		NA																	0				ovary(1)	1						c.(1204-1206)AGA>GGA		E74-like factor 1 (ets domain transcription							113.0	108.0	110.0					13																	41515109		2203	4300	6503	SO:0001583	missense	1997				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:41515109T>C	M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1204A>G	13.37:g.41515109T>C	ENSP00000239882:p.Arg402Gly					ELF1_uc010tfc.1_Missense_Mutation_p.R378G|ELF1_uc010acd.2_Missense_Mutation_p.R295G	p.R402G	NM_172373	NP_758961	P32519	ELF1_HUMAN		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)	8	1577	-		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)	402					B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	c.1204A>G	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	T	1.746	-0.490398	0.04322	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.43688	0.94;0.94	5.31	-3.11	0.05299	.	2.042680	0.01732	N	0.028880	T	0.22627	0.0546	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.08055	0.0;0.003	T	0.13818	-1.0495	10	0.21540	T	0.41	.	8.0974	0.30837	0.0:0.5411:0.2398:0.2191	.	378;402	E9PDQ9;P32519	.;ELF1_HUMAN	G	378;144;402	ENSP00000405580:R378G;ENSP00000239882:R402G	ENSP00000239882:R402G	R	-	1	2	ELF1	40413109	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-0.108000	0.10857	-0.832000	0.04251	0.533000	0.62120	AGA		0.468	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		60	24	0	0	0	0	60	24				
GTF2F2	2963	broad.mit.edu	37	13	45725938	45725938	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr13:45725938A>G	ENST00000340473.6	+	4	417	c.276A>G	c.(274-276)acA>acG	p.T92T		NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2, 30kDa	92					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		GAGGACAGACATTAACAGTAT	0.373																																						uc001uzw.2		NA																	0					0						c.(274-276)ACA>ACG		general transcription factor IIF, polypeptide 2,							187.0	177.0	180.0					13																	45725938		2203	4300	6503	SO:0001819	synonymous_variant	2963				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding	g.chr13:45725938A>G	X16901	CCDS9395.1	13q14	2012-01-23	2002-08-29		ENSG00000188342	ENSG00000188342		"""General transcription factors"""	4653	protein-coding gene	gene with protein product		189969	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			8162052	Standard	NM_004128		Approved	TFIIF, BTF4, RAP30	uc001uzw.3	P13984	OTTHUMG00000016849	ENST00000340473.6:c.276A>G	13.37:g.45725938A>G						GTF2F2_uc001uzv.2_Silent_p.T92T	p.T92T	NM_004128	NP_004119	P13984	T2FB_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)	4	436	+		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	92					A6NNS5|Q5W0H3	Silent	SNP	ENST00000340473.6	37	c.276A>G	CCDS9395.1																																																																																				0.373	GTF2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044767.2	NM_004128		58	20	0	0	0	0	58	20				
PCDH20	64881	broad.mit.edu	37	13	61987508	61987508	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr13:61987508T>C	ENST00000409186.1	-	5	2829	c.724A>G	c.(724-726)Aat>Gat	p.N242D	PCDH20_ENST00000409204.4_Missense_Mutation_p.N242D			Q8N6Y1	PCD20_HUMAN	protocadherin 20	242	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGTACCCCATTAATGCCTACA	0.532																																						uc001vid.3		NA																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(724-726)AAT>GAT		protocadherin 20							106.0	92.0	97.0					13																	61987508		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61987508T>C	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.724A>G	13.37:g.61987508T>C	ENSP00000386653:p.Asn242Asp					PCDH20_uc010thj.1_Missense_Mutation_p.N242D	p.N242D	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	2	1088	-		Breast(118;0.195)|Prostate(109;0.229)	215			Cadherin 2.|Extracellular (Potential).		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.724A>G	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	T	16.70	3.195617	0.58126	.	.	ENSG00000197991	ENST00000409204;ENST00000409186	T;T	0.60299	0.2;0.2	5.91	5.91	0.95273	.	0.078419	0.53938	D	0.000048	T	0.81049	0.4742	M	0.92970	3.365	0.44079	D	0.996834	D	0.67145	0.996	D	0.65773	0.938	D	0.85879	0.1421	10	0.87932	D	0	.	16.3436	0.83110	0.0:0.0:0.0:1.0	.	242	A8K1K9	.	D	242	ENSP00000387250:N242D;ENSP00000386653:N242D	ENSP00000386653:N242D	N	-	1	0	PCDH20	60885509	0.999000	0.42202	0.890000	0.34922	0.979000	0.70002	3.050000	0.49877	2.269000	0.75478	0.533000	0.62120	AAT		0.532	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		50	45	0	0	0	0	50	45				
TM9SF2	9375	broad.mit.edu	37	13	100193874	100193874	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr13:100193874C>A	ENST00000376387.4	+	9	1160	c.970C>A	c.(970-972)Cgg>Agg	p.R324R		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	324					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.R324G(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GATTATGTTACGGACACTGCA	0.358																																						uc001voj.1		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(1)	1						c.(970-972)CGG>AGG		transmembrane 9 superfamily member 2 precursor							246.0	221.0	229.0					13																	100193874		2203	4300	6503	SO:0001819	synonymous_variant	9375				transport	endosome membrane|integral to plasma membrane		g.chr13:100193874C>A	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.970C>A	13.37:g.100193874C>A						TM9SF2_uc010afz.1_Silent_p.R159R	p.R324R	NM_004800	NP_004791	Q99805	TM9S2_HUMAN			9	1103	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)		324			Cytoplasmic (Potential).		A8K399|Q2TAY5	Silent	SNP	ENST00000376387.4	37	c.970C>A	CCDS9493.1																																																																																				0.358	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3			24	45	1	0	1.18e-14	2.08e-14	24	45				
OR4L1	122742	broad.mit.edu	37	14	20528889	20528889	+	Missense_Mutation	SNP	C	C	T	rs369912800		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:20528889C>T	ENST00000315683.1	+	1	686	c.686C>T	c.(685-687)tCa>tTa	p.S229L		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CCAAAAAAATCATCACATGGG	0.438																																						uc001vwn.1		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(685-687)TCA>TTA		olfactory receptor, family 4, subfamily L,		C	LEU/SER	0,4406		0,0,2203	193.0	178.0	183.0		686	4.1	0.0	14		183	1,8599		0,1,4299	no	missense	OR4L1	NM_001004717.1	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	229/313	20528889	1,13005	2203	4300	6503	SO:0001583	missense	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528889C>T		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.686C>T	14.37:g.20528889C>T	ENSP00000319217:p.Ser229Leu						p.S229L	NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	686	+	all_cancers(95;0.00108)		229			Cytoplasmic (Potential).		Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	c.686C>T	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	10.95	1.496753	0.26861	0.0	1.16E-4	ENSG00000176246	ENST00000315683	T	0.00330	8.08	4.13	4.13	0.48395	GPCR, rhodopsin-like superfamily (1);	0.179052	0.27754	N	0.018000	T	0.00754	0.0025	H	0.94771	3.58	0.09310	N	1	P	0.36027	0.533	P	0.44921	0.464	T	0.01800	-1.1271	10	0.87932	D	0	.	14.2741	0.66167	0.0:1.0:0.0:0.0	.	229	Q8NH43	OR4L1_HUMAN	L	229	ENSP00000319217:S229L	ENSP00000319217:S229L	S	+	2	0	OR4L1	19598729	0.000000	0.05858	0.015000	0.15790	0.034000	0.12701	0.212000	0.17497	2.306000	0.77630	0.650000	0.86243	TCA		0.438	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			77	78	0	0	0	0	77	78				
TEP1	7011	broad.mit.edu	37	14	20871907	20871907	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:20871907T>A	ENST00000262715.5	-	6	1209	c.1169A>T	c.(1168-1170)cAc>cTc	p.H390L	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	390	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.H390P(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCGGCGGGGGTGTCTCTTGGC	0.627																																						uc001vxe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(1168-1170)CAC>CTC		telomerase-associated protein 1							68.0	78.0	74.0					14																	20871907		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20871907T>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1169A>T	14.37:g.20871907T>A	ENSP00000262715:p.His390Leu					TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Intron	p.H390L	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	6	1209	-	all_cancers(95;0.00123)	all_lung(585;0.235)	390			TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.1169A>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.587397	0.46110	.	.	ENSG00000129566	ENST00000262715;ENST00000359243	T	0.13901	2.55	5.54	2.72	0.32119	TROVE (2);	0.475270	0.23102	N	0.051916	T	0.06371	0.0164	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.17433	0.018	T	0.33979	-0.9847	10	0.37606	T	0.19	-7.7791	6.2821	0.21013	0.0:0.6791:0.1515:0.1694	.	390	Q99973	TEP1_HUMAN	L	390	ENSP00000262715:H390L	ENSP00000262715:H390L	H	-	2	0	TEP1	19941747	0.000000	0.05858	0.001000	0.08648	0.403000	0.30841	0.030000	0.13688	0.286000	0.22352	-0.242000	0.12053	CAC		0.627	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		37	79	0	0	0	0	37	79				
RNASE4	6038	broad.mit.edu	37	14	21167532	21167532	+	Start_Codon_SNP	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:21167532T>A	ENST00000555835.1	+	2	678	c.2T>A	c.(1-3)aTg>aAg	p.M1K	RNASE4_ENST00000397995.2_Start_Codon_SNP_p.M1K|RNASE4_ENST00000555597.1_Start_Codon_SNP_p.M1K|RP11-903H12.3_ENST00000554286.1_RNA|AL163636.6_ENST00000553909.1_3'UTR|RNASE4_ENST00000304704.4_Start_Codon_SNP_p.M1K	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	1					cellular response to starvation (GO:0009267)|mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		AAGATACTGATGGCTCTGCAG	0.532																																					Esophageal Squamous(59;1059 1362 26290 51151)	uc001vxy.3		NA																	0				central_nervous_system(1)	1						c.(1-3)ATG>AAG		ribonuclease, RNase A family, 4 precursor							80.0	79.0	79.0					14																	21167532		2203	4300	6503	SO:0001582	initiator_codon_variant	6038				mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21167532T>A	U36775	CCDS9555.1	14q11	2014-07-16			ENSG00000258818	ENSG00000258818		"""Ribonucleases, RNase A"""	10047	protein-coding gene	gene with protein product		601030				7501448	Standard	NM_002937		Approved		uc001vxy.4	P34096	OTTHUMG00000029575	ENST00000555835.1:c.2T>A	14.37:g.21167532T>A	ENSP00000452245:p.Met1Lys					RNASE4_uc001vxx.3_RNA|RNASE4_uc001vya.2_Missense_Mutation_p.M1K	p.M1K	NM_002937	NP_002928	P34096	RNAS4_HUMAN	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)	2	565	+	all_cancers(95;0.00304)		1						Missense_Mutation	SNP	ENST00000555835.1	37	c.2T>A	CCDS9555.1	.	.	.	.	.	.	.	.	.	.	T	19.24	3.789294	0.70337	.	.	ENSG00000258818;ENSG00000258818;ENSG00000258818;ENSG00000181784;ENSG00000181784;ENSG00000181784	ENST00000555835;ENST00000397995;ENST00000555597;ENST00000398001;ENST00000304704;ENST00000397999	T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	5.44	5.44	0.79542	.	0.272973	0.35291	N	0.003311	D	0.89100	0.6619	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.90329	0.4350	9	0.87932	D	0	-20.205	12.1851	0.54234	0.0:0.0:0.0:1.0	.	1	P34096	RNAS4_HUMAN	K	1	ENSP00000452245:M1K;ENSP00000381081:M1K;ENSP00000451624:M1K;ENSP00000381087:M1K;ENSP00000307096:M1K;ENSP00000381085:M1K	ENSP00000307096:M1K	M	+	2	0	AL163636.2;RNASE4	20237372	1.000000	0.71417	0.936000	0.37596	0.894000	0.52154	2.512000	0.45485	2.193000	0.70182	0.533000	0.62120	ATG		0.532	RNASE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073729.3		Missense_Mutation	32	100	0	0	0	0	32	100				
PSMB11	122706	broad.mit.edu	37	14	23512042	23512042	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:23512042C>T	ENST00000408907.2	+	1	667	c.608C>T	c.(607-609)gCc>gTc	p.A203V		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	203					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		GAAGCCTACGCCCTGGCTCGC	0.627																																						uc010ake.1		NA																	0					0						c.(607-609)GCC>GTC		proteasome beta 11 subunit precursor							41.0	43.0	42.0					14																	23512042		2126	4239	6365	SO:0001583	missense	122706				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|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr14:23512042C>T		CCDS41923.1	14q11.2	2008-01-31				ENSG00000222028			31963	protein-coding gene	gene with protein product		611137				17540904	Standard	NM_001099780		Approved	beta5t	uc010ake.1	A5LHX3		ENST00000408907.2:c.608C>T	14.37:g.23512042C>T	ENSP00000386212:p.Ala203Val						p.A203V	NM_001099780	NP_001093250	A5LHX3	PSB11_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	1	667	+	all_cancers(95;3.3e-05)		203						Missense_Mutation	SNP	ENST00000408907.2	37	c.608C>T	CCDS41923.1	.	.	.	.	.	.	.	.	.	.	C	8.120	0.780662	0.16120	.	.	ENSG00000222028	ENST00000408907	T	0.22743	1.94	5.12	3.25	0.37280	.	0.395082	0.26016	N	0.026851	T	0.16769	0.0403	L	0.41961	1.31	0.09310	N	1	B	0.32653	0.379	B	0.31946	0.138	T	0.17319	-1.0373	10	0.87932	D	0	-16.5365	6.7237	0.23345	0.4618:0.4566:0.0:0.0816	.	203	A5LHX3	PSB11_HUMAN	V	203	ENSP00000386212:A203V	ENSP00000386212:A203V	A	+	2	0	PSMB11	22581882	0.000000	0.05858	0.515000	0.27774	0.034000	0.12701	-0.132000	0.10467	0.539000	0.28788	-0.181000	0.13052	GCC		0.627	PSMB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408294.1	NM_001099780		28	36	0	0	0	0	28	36				
MYH6	4624	broad.mit.edu	37	14	23862578	23862578	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:23862578C>A	ENST00000356287.3	-	22	3107	c.3078G>T	c.(3076-3078)aaG>aaT	p.K1026N	MYH6_ENST00000405093.3_Missense_Mutation_p.K1026N			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1026					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCAGCTTGACCTTAGACTTGG	0.517																																						uc001wjv.2		NA																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(3076-3078)AAG>AAT		myosin heavy chain 6							147.0	127.0	134.0					14																	23862578		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23862578C>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.3078G>T	14.37:g.23862578C>A	ENSP00000348634:p.Lys1026Asn						p.K1026N	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	23	3145	-	all_cancers(95;2.54e-05)		1026			Potential.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.3078G>T	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	t	15.27	2.784972	0.49997	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.93763	-3.28;-3.28	5.12	1.19	0.21007	.	.	.	.	.	D	0.95239	0.8456	M	0.76727	2.345	0.45962	D	0.998784	D	0.89917	1.0	D	0.87578	0.998	D	0.92343	0.5883	9	0.41790	T	0.15	.	8.6864	0.34240	0.0:0.4229:0.0:0.5771	.	1026	P13533	MYH6_HUMAN	N	1026	ENSP00000386041:K1026N;ENSP00000348634:K1026N	ENSP00000348634:K1026N	K	-	3	2	MYH6	22932418	0.000000	0.05858	0.993000	0.49108	0.998000	0.95712	-0.357000	0.07651	0.017000	0.15025	0.650000	0.86243	AAG		0.517	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			36	145	1	0	2.2e-14	3.88e-14	36	145				
DHRS2	10202	broad.mit.edu	37	14	24108190	24108190	+	Silent	SNP	C	C	A	rs146713514		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:24108190C>A	ENST00000250383.6	+	2	593	c.117C>A	c.(115-117)gcC>gcA	p.A39A	DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Silent_p.A39A	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	39					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		ACCGGGTAGCCGTGGTCACGG	0.612																																						uc001wkt.3		NA																	0				large_intestine(1)|ovary(1)	2						c.(115-117)GCC>GCA		dehydrogenase/reductase member 2 isoform 1							75.0	77.0	77.0					14																	24108190		2203	4300	6503	SO:0001819	synonymous_variant	10202				C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	g.chr14:24108190C>A		CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18349	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 1"""	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.117C>A	14.37:g.24108190C>A						DHRS2_uc010aku.1_Silent_p.A39A|DHRS2_uc001wku.3_Silent_p.A39A|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_Silent_p.A39A	p.A39A	NM_182908	NP_878912	Q13268	DHRS2_HUMAN		GBM - Glioblastoma multiforme(265;0.00659)	2	564	+			17					D3DS54|Q53GS4|Q7Z789|Q9H2R2	Silent	SNP	ENST00000250383.6	37	c.117C>A	CCDS9604.1																																																																																				0.612	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908		50	84	1	0	4.26e-23	7.88e-23	50	84				
REC8	9985	broad.mit.edu	37	14	24641797	24641797	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:24641797C>T	ENST00000311457.3	+	2	635	c.36C>T	c.(34-36)acC>acT	p.T12T	REC8_ENST00000559919.1_Silent_p.T12T			O95072	REC8_HUMAN	REC8 meiotic recombination protein	12					double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		AGCGCCACACCGGCTGCTTTG	0.612																																					NSCLC(139;1764 2537 12868 49041)	uc001wmr.2		NA																	0					0						c.(34-36)ACC>ACT		REC8 homolog							34.0	38.0	37.0					14																	24641797		2028	4190	6218	SO:0001819	synonymous_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24641797C>T	AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918			16879	protein-coding gene	gene with protein product		608193	"""REC8-like 1 (yeast)"", ""REC8 homolog (yeast)"""	REC8L1		10207075, 15935783, 12759374	Standard	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.36C>T	14.37:g.24641797C>T						REC8_uc001wms.2_Silent_p.T12T	p.T12T	NM_005132	NP_005123	O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	2	463	+			12					A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Silent	SNP	ENST00000311457.3	37	c.36C>T	CCDS41932.1																																																																																				0.612	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3	NM_005132		8	44	0	0	0	0	8	44				
RALGAPA1	253959	broad.mit.edu	37	14	36217975	36217975	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:36217975T>C	ENST00000389698.3	-	10	1457	c.1067A>G	c.(1066-1068)aAa>aGa	p.K356R	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.K356R|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.K356R|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.K356R	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	356					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCTGTCTGTTTTATCAGCATT	0.353																																						uc001wti.2		NA																	0				ovary(3)|breast(1)	4						c.(1066-1068)AAA>AGA		Ral GTPase activating protein, alpha subunit 1							188.0	166.0	173.0					14																	36217975		2203	4300	6503	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36217975T>C	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.1067A>G	14.37:g.36217975T>C	ENSP00000374348:p.Lys356Arg					RALGAPA1_uc001wtj.2_Missense_Mutation_p.K356R|RALGAPA1_uc010tpv.1_Missense_Mutation_p.K356R|RALGAPA1_uc010tpw.1_Missense_Mutation_p.K356R|RALGAPA1_uc001wtk.1_Missense_Mutation_p.K207R	p.K356R	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN			10	1458	-			356					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.1067A>G	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	T	11.96	1.795858	0.31777	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07	5.72	3.42	0.39159	.	0.248291	0.46758	D	0.000272	T	0.53997	0.1831	N	0.08118	0	0.24240	N	0.995361	B;B;B;B;B	0.09022	0.001;0.0;0.002;0.001;0.0	B;B;B;B;B	0.11329	0.003;0.001;0.006;0.003;0.001	T	0.33727	-0.9857	10	0.20046	T	0.44	-21.2988	8.2451	0.31684	0.0:0.1827:0.0:0.8173	.	356;356;356;356;356	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	R	356	ENSP00000374348:K356R;ENSP00000302647:K356R;ENSP00000258840:K356R;ENSP00000371803:K356R;ENSP00000451877:K356R	ENSP00000258840:K356R	K	-	2	0	RALGAPA1	35287726	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	1.201000	0.32259	2.180000	0.69256	0.533000	0.62120	AAA		0.353	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		16	84	0	0	0	0	16	84				
MDGA2	161357	broad.mit.edu	37	14	47504488	47504488	+	Silent	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:47504488A>T	ENST00000399232.2	-	8	1702	c.1338T>A	c.(1336-1338)gtT>gtA	p.V446V	MDGA2_ENST00000426342.1_Silent_p.V217V|MDGA2_ENST00000357362.3_Silent_p.V217V|MDGA2_ENST00000439988.3_Silent_p.V515V	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	446	Ig-like 5.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTCCTGTGGAACAGTCAGAT	0.373																																						uc001wwj.3		NA																	0				ovary(4)|large_intestine(1)|pancreas(1)	6						c.(1336-1338)GTT>GTA		MAM domain containing 1 isoform 1							142.0	118.0	125.0					14																	47504488		1847	4096	5943	SO:0001819	synonymous_variant	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47504488A>T	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1338T>A	14.37:g.47504488A>T						MDGA2_uc001wwi.3_Silent_p.V217V|MDGA2_uc010ani.2_Intron	p.V446V	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			8	1534	-			446			Ig-like 5.		F6W3S7|J3KPX6	Silent	SNP	ENST00000399232.2	37	c.1338T>A		.	.	.	.	.	.	.	.	.	.	A	13.58	2.280854	0.40394	.	.	ENSG00000139915	ENST00000554762	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	T	0.71169	0.3308	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70303	-0.4909	4	.	.	.	.	14.7193	0.69294	1.0:0.0:0.0:0.0	.	.	.	.	T	221	.	.	S	-	1	0	MDGA2	46574238	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.502000	0.35704	2.163000	0.67991	0.482000	0.46254	TCC		0.373	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		41	56	0	0	0	0	41	56				
SOS2	6655	broad.mit.edu	37	14	50596694	50596694	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:50596694G>C	ENST00000216373.5	-	21	3638	c.3364C>G	c.(3364-3366)Ctt>Gtt	p.L1122V	SOS2_ENST00000543680.1_Missense_Mutation_p.L1089V	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1122					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TGTGGCAAAAGCACTGGAGCA	0.274																																						uc001wxs.3		NA																	0				ovary(2)	2						c.(3364-3366)CTT>GTT		son of sevenless homolog 2							50.0	52.0	51.0					14																	50596694		2203	4286	6489	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50596694G>C	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.3364C>G	14.37:g.50596694G>C	ENSP00000216373:p.Leu1122Val					SOS2_uc010ans.2_5'UTR|SOS2_uc010tql.1_Missense_Mutation_p.L1089V	p.L1122V	NM_006939	NP_008870	Q07890	SOS2_HUMAN			21	3462	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		1122					B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.3364C>G	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	G	9.830	1.188278	0.21954	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.79749	-1.3;-1.17	5.89	3.96	0.45880	.	0.512698	0.20892	N	0.083817	T	0.66489	0.2794	L	0.38175	1.15	0.27226	N	0.959524	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.49661	-0.8916	10	0.17369	T	0.5	.	5.379	0.16181	0.1451:0.116:0.6198:0.119	.	1089;1122	B7ZKT6;Q07890	.;SOS2_HUMAN	V	1122;1089	ENSP00000216373:L1122V;ENSP00000445328:L1089V	ENSP00000216373:L1122V	L	-	1	0	SOS2	49666444	0.499000	0.26083	1.000000	0.80357	0.987000	0.75469	0.620000	0.24403	1.499000	0.48617	0.585000	0.79938	CTT		0.274	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			6	33	0	0	0	0	6	33				
SLC35F4	341880	broad.mit.edu	37	14	58048102	58048102	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:58048102G>A	ENST00000339762.6	-	4	744	c.745C>T	c.(745-747)Ctt>Ttt	p.L249F	SLC35F4_ENST00000554729.1_Missense_Mutation_p.L90F|RP11-409I10.2_ENST00000555600.1_RNA|SLC35F4_ENST00000556826.1_Missense_Mutation_p.L213F			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	249					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTTCTTTTAAGAAAGAGTTTC	0.413																																						uc001xdb.1		NA																	0				ovary(2)	2						c.(745-747)CTT>TTT		solute carrier family 35, member F4							49.0	45.0	46.0					14																	58048102		1858	4105	5963	SO:0001583	missense	341880							g.chr14:58048102G>A			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"""Solute carriers"""	19845	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 36"""	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.745C>T	14.37:g.58048102G>A	ENSP00000342518:p.Leu249Phe					SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Missense_Mutation_p.L90F	p.L249F	NM_001080455	NP_001073924					4	745	-								A6NDQ3	Missense_Mutation	SNP	ENST00000339762.6	37	c.745C>T		.	.	.	.	.	.	.	.	.	.	G	17.47	3.398485	0.62177	.	.	ENSG00000151812	ENST00000556826;ENST00000339762;ENST00000554729	T;T;T	0.50813	0.77;0.73;0.77	6.08	6.08	0.98989	.	0.053759	0.85682	D	0.000000	T	0.35770	0.0943	N	0.10760	0.04	0.80722	D	1	B	0.24576	0.106	B	0.33392	0.163	T	0.16158	-1.0412	10	0.21540	T	0.41	-16.3808	20.6721	0.99693	0.0:0.0:1.0:0.0	.	249	A4IF30	S35F4_HUMAN	F	213;249;90	ENSP00000452086:L213F;ENSP00000342518:L249F;ENSP00000451990:L90F	ENSP00000342518:L249F	L	-	1	0	SLC35F4	57117855	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.205000	0.72148	2.894000	0.99253	0.591000	0.81541	CTT		0.413	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260		6	30	0	0	0	0	6	30				
C14orf39	317761	broad.mit.edu	37	14	60903645	60903645	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:60903645T>C	ENST00000321731.3	-	18	1841	c.1682A>G	c.(1681-1683)cAg>cGg	p.Q561R		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	561					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATTTTGACCCTGTCCAAATGA	0.323																																						uc001xez.3		NA																	0		p.Q561E(1)		ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(1681-1683)CAG>CGG		hypothetical protein LOC317761							148.0	168.0	162.0					14																	60903645		2203	4295	6498	SO:0001583	missense	317761							g.chr14:60903645T>C	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.1682A>G	14.37:g.60903645T>C	ENSP00000324920:p.Gln561Arg					C14orf39_uc010apo.2_Missense_Mutation_p.Q272R	p.Q561R	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	18	1792	-			561					Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	c.1682A>G	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.106462	0.37145	.	.	ENSG00000179008	ENST00000321731	T	0.28454	1.61	5.39	2.9	0.33743	.	0.393532	0.21928	N	0.067061	T	0.22704	0.0548	L	0.40543	1.245	0.29979	N	0.817863	B	0.16802	0.019	B	0.14023	0.01	T	0.12656	-1.0539	10	0.49607	T	0.09	-0.1639	7.2177	0.25969	0.0:0.0767:0.146:0.7773	.	561	Q8N1H7	S6OS1_HUMAN	R	561	ENSP00000324920:Q561R	ENSP00000324920:Q561R	Q	-	2	0	C14orf39	59973398	1.000000	0.71417	0.998000	0.56505	0.824000	0.46624	2.532000	0.45659	0.892000	0.36259	0.455000	0.32223	CAG		0.323	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978		65	195	0	0	0	0	65	195				
TMED10	10972	broad.mit.edu	37	14	75614419	75614419	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:75614419T>G	ENST00000303575.4	-	3	410	c.359A>C	c.(358-360)cAa>cCa	p.Q120P	TMED10_ENST00000557670.1_5'UTR	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	120	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.|Required for interaction with STX17.				beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		GATCACGAGTTGGTCAGGTAT	0.493																																						uc001xrm.1		NA																	0					0						c.(358-360)CAA>CCA		transmembrane emp24 domain-containing protein 10							235.0	211.0	219.0					14																	75614419		2203	4300	6503	SO:0001583	missense	10972				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding	g.chr14:75614419T>G	AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.359A>C	14.37:g.75614419T>G	ENSP00000303145:p.Gln120Pro					TMED10_uc010ash.1_RNA|TMED10_uc010asg.1_RNA|TMED10_uc010tuz.1_5'UTR	p.Q120P	NM_006827	NP_006818	P49755	TMEDA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0126)	3	426	-			120			Lumenal (Potential).|GOLD.		B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Missense_Mutation	SNP	ENST00000303575.4	37	c.359A>C	CCDS9840.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.597764	0.87055	.	.	ENSG00000170348	ENST00000303575	T	0.17370	2.28	6.06	6.06	0.98353	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.41789	0.1174	M	0.79926	2.475	0.80722	D	1	D	0.58970	0.984	P	0.62560	0.904	T	0.20472	-1.0274	10	0.26408	T	0.33	-25.1982	16.6245	0.84952	0.0:0.0:0.0:1.0	.	120	P49755	TMEDA_HUMAN	P	120	ENSP00000303145:Q120P	ENSP00000303145:Q120P	Q	-	2	0	TMED10	74684172	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.694000	0.84235	2.323000	0.78572	0.528000	0.53228	CAA		0.493	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	NM_006827		55	218	0	0	0	0	55	218				
ANGEL1	23357	broad.mit.edu	37	14	77274328	77274328	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:77274328G>A	ENST00000251089.2	-	3	925	c.813C>T	c.(811-813)gaC>gaT	p.D271D	ANGEL1_ENST00000554941.1_5'Flank	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	271										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		AATTGAGGATGTCTGGATGGC	0.498																																						uc001xsv.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(811-813)GAC>GAT		angel homolog 1							117.0	102.0	107.0					14																	77274328		2203	4300	6503	SO:0001819	synonymous_variant	23357							g.chr14:77274328G>A	AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.813C>T	14.37:g.77274328G>A						ANGEL1_uc010tvf.1_Intron	p.D271D	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)	3	926	-			271					B4DWL7|O94859|Q8NCS9	Silent	SNP	ENST00000251089.2	37	c.813C>T	CCDS9852.1																																																																																				0.498	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305		6	54	0	0	0	0	6	54				
NRDE2	55051	broad.mit.edu	37	14	90769079	90769079	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:90769079C>T	ENST00000354366.3	-	6	1628	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	NRDE2_ENST00000357904.3_Missense_Mutation_p.E235K	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	466																	ATGGCCTCTTCCGTGCCAGGC	0.413																																						uc001xyi.1		NA																	0				ovary(2)|lung(1)	3						c.(1396-1398)GAA>AAA		hypothetical protein LOC55051 isoform 1							67.0	58.0	61.0					14																	90769079		2203	4300	6503	SO:0001583	missense	55051						protein binding	g.chr14:90769079C>T	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.1396G>A	14.37:g.90769079C>T	ENSP00000346335:p.Glu466Lys					C14orf102_uc010atp.1_Intron|C14orf102_uc001xyj.1_Missense_Mutation_p.E235K	p.E466K	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN		COAD - Colon adenocarcinoma(157;0.218)	6	1427	-		all_cancers(154;0.118)	466					B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	c.1396G>A	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496405	0.85069	.	.	ENSG00000119720	ENST00000354366;ENST00000357904;ENST00000554464	T;T	0.32753	1.44;1.44	5.41	5.41	0.78517	Domain of unknown function DUF1740 (1);	0.000000	0.85682	D	0.000000	T	0.60856	0.2301	M	0.85859	2.78	0.58432	D	0.999999	D	0.76494	0.999	D	0.71414	0.973	T	0.62177	-0.6909	10	0.38643	T	0.18	-25.6408	19.2052	0.93728	0.0:1.0:0.0:0.0	.	466	Q9H7Z3	CN102_HUMAN	K	466;235;35	ENSP00000346335:E466K;ENSP00000350579:E235K	ENSP00000346335:E466K	E	-	1	0	C14orf102	89838832	1.000000	0.71417	0.807000	0.32361	0.848000	0.48234	5.614000	0.67695	2.528000	0.85240	0.650000	0.86243	GAA		0.413	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		8	44	0	0	0	0	8	44				
UNC79	57578	broad.mit.edu	37	14	94044388	94044388	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:94044388G>T	ENST00000393151.2	+	18	2412	c.2412G>T	c.(2410-2412)atG>atT	p.M804I	UNC79_ENST00000256339.4_Missense_Mutation_p.M627I|UNC79_ENST00000555664.1_Missense_Mutation_p.M804I|UNC79_ENST00000553484.1_Missense_Mutation_p.M804I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	804					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCATCCTCATGTTTGATCTTC	0.403																																						uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(1879-1881)ATG>ATT		hypothetical protein LOC57578							109.0	103.0	105.0					14																	94044388		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94044388G>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2412G>T	14.37:g.94044388G>T	ENSP00000376858:p.Met804Ile					KIAA1409_uc001ybs.1_Missense_Mutation_p.M627I	p.M627I	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	15	1964	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	804					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.1881G>T		.	.	.	.	.	.	.	.	.	.	G	27.0	4.789380	0.90367	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.23950	1.89;1.89;1.88;1.89	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.41604	0.1166	L	0.47016	1.485	0.58432	D	0.999998	P	0.44281	0.831	P	0.54664	0.758	T	0.27806	-1.0063	10	0.87932	D	0	-17.7428	18.5296	0.90986	0.0:0.0:1.0:0.0	.	804	C9JQL1	.	I	627;804;804;804;804	ENSP00000256339:M627I;ENSP00000450868:M804I;ENSP00000451360:M804I;ENSP00000376858:M804I	ENSP00000256339:M627I	M	+	3	0	KIAA1409	93114141	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.809000	0.99208	2.383000	0.81215	0.650000	0.86243	ATG		0.403	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		6	68	1	0	0.00198382	0.00272549	6	68				
UNC79	57578	broad.mit.edu	37	14	94088986	94088986	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:94088986C>T	ENST00000393151.2	+	30	5407	c.5407C>T	c.(5407-5409)Cct>Tct	p.P1803S	UNC79_ENST00000256339.4_Missense_Mutation_p.P1626S|UNC79_ENST00000555664.1_Missense_Mutation_p.P1803S|UNC79_ENST00000553484.1_Missense_Mutation_p.P1825S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1803					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AAGTGAGAAGCCTGATACCAG	0.498																																						uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(4942-4944)CCT>TCT		hypothetical protein LOC57578							66.0	60.0	62.0					14																	94088986		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94088986C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5407C>T	14.37:g.94088986C>T	ENSP00000376858:p.Pro1803Ser					KIAA1409_uc001ybs.1_Missense_Mutation_p.P1626S	p.P1648S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	28	5025	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1803					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.4942C>T		.	.	.	.	.	.	.	.	.	.	C	10.35	1.326976	0.24080	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.16897	2.33;2.31;2.33;2.33	5.57	4.68	0.58851	.	0.238175	0.43110	D	0.000610	T	0.10165	0.0249	N	0.12746	0.255	0.37597	D	0.920405	B	0.06786	0.001	B	0.08055	0.003	T	0.19160	-1.0314	10	0.24483	T	0.36	-18.8998	13.8451	0.63463	0.0:0.9265:0.0:0.0735	.	1825	C9JQL1	.	S	1626;1803;1825;1803;1825	ENSP00000256339:P1626S;ENSP00000450868:P1803S;ENSP00000451360:P1825S;ENSP00000376858:P1803S	ENSP00000256339:P1626S	P	+	1	0	KIAA1409	93158739	0.990000	0.36364	0.991000	0.47740	0.759000	0.43091	2.188000	0.42612	2.629000	0.89072	0.484000	0.47621	CCT		0.498	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		9	52	0	0	0	0	9	52				
SERPINA11	256394	broad.mit.edu	37	14	94914815	94914815	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:94914815G>T	ENST00000334708.3	-	2	361	c.297C>A	c.(295-297)atC>atA	p.I99I	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	99					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GGCCCTCCAGGATCAGAGCTG	0.622																																						uc001ydd.1		NA																	0				kidney(1)	1						c.(295-297)ATC>ATA		serpin peptidase inhibitor, clade A (alpha-1							79.0	82.0	81.0					14																	94914815		2203	4300	6503	SO:0001819	synonymous_variant	256394				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94914815G>T	BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"""Serine (or cysteine) peptidase inhibitors"""	19193	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"""			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.297C>A	14.37:g.94914815G>T							p.I99I	NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	357	-			99					B2RV07	Silent	SNP	ENST00000334708.3	37	c.297C>A	CCDS32149.1																																																																																				0.622	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1	NM_001080451		24	142	1	0	2.89e-11	4.82e-11	24	142				
SERPINA9	327657	broad.mit.edu	37	14	94936102	94936102	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:94936102C>A	ENST00000380365.3	-	2	154	c.76G>T	c.(76-78)Gcc>Tcc	p.A26S	SERPINA9_ENST00000546329.1_Intron|SERPINA9_ENST00000539349.1_5'UTR|SERPINA9_ENST00000298845.7_Missense_Mutation_p.A44S|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000448305.2_Intron|SERPINA9_ENST00000337425.5_Missense_Mutation_p.A44S			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	26					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GCACTGGGGGCATTGGCCGGG	0.532																																						uc001ydf.2		NA																	0				lung(1)|central_nervous_system(1)	2						c.(130-132)GCC>TCC		serine (or cysteine) proteinase inhibitor, clade							85.0	86.0	86.0					14																	94936102		2016	4177	6193	SO:0001583	missense	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94936102C>A	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.76G>T	14.37:g.94936102C>A	ENSP00000369723:p.Ala26Ser					SERPINA9_uc001yde.2_Missense_Mutation_p.A44S|SERPINA9_uc010avc.2_Intron|SERPINA9_uc001ydg.2_Intron|SERPINA9_uc001ydh.1_Missense_Mutation_p.A44S|SERPINA9_uc001ydi.1_Intron	p.A44S	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	2	291	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	26					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37	c.130G>T		.	.	.	.	.	.	.	.	.	.	C	6.773	0.511620	0.12944	.	.	ENSG00000170054	ENST00000298845;ENST00000337425;ENST00000380365	D;D;D	0.87256	-2.23;-2.23;-2.23	3.81	-7.62	0.01294	Serpin domain (1);	5.447840	0.00508	N	0.000176	T	0.66317	0.2777	N	0.08118	0	0.09310	N	1	B;B;B	0.10296	0.0;0.001;0.003	B;B;B	0.11329	0.001;0.006;0.003	T	0.60219	-0.7306	10	0.16420	T	0.52	.	0.2204	0.00167	0.268:0.2297:0.2621:0.2402	.	26;44;44	Q86WD7;Q86WD7-7;Q86WD7-2	SPA9_HUMAN;.;.	S	44;44;26	ENSP00000298845:A44S;ENSP00000337133:A44S;ENSP00000369723:A26S	ENSP00000298845:A44S	A	-	1	0	SERPINA9	94005855	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	-1.686000	0.01929	-1.043000	0.03258	0.313000	0.20887	GCC		0.532	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		15	91	1	0	4.75e-09	7.68e-09	15	91				
CLMN	79789	broad.mit.edu	37	14	95670290	95670290	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:95670290C>G	ENST00000298912.4	-	9	1509	c.1396G>C	c.(1396-1398)Gtt>Ctt	p.V466L		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	466					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GCAACCTCAACTGCCAAGACA	0.488																																						uc001yef.2		NA																	0					0						c.(1396-1398)GTT>CTT		calmin							70.0	66.0	68.0					14																	95670290		2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95670290C>G	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.1396G>C	14.37:g.95670290C>G	ENSP00000298912:p.Val466Leu						p.V466L	NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	9	1512	-			466					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.1396G>C	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622821	0.28889	.	.	ENSG00000165959	ENST00000298912	D	0.92397	-3.03	5.43	0.367	0.16140	.	1.472120	0.05042	N	0.476516	D	0.87212	0.6121	L	0.47716	1.5	0.09310	N	0.999992	B	0.27068	0.167	B	0.19148	0.024	T	0.73633	-0.3921	10	0.48119	T	0.1	.	4.0488	0.09785	0.1755:0.4774:0.0:0.3471	.	466	Q96JQ2	CLMN_HUMAN	L	466	ENSP00000298912:V466L	ENSP00000298912:V466L	V	-	1	0	CLMN	94740043	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.466000	0.06672	0.223000	0.20920	0.655000	0.94253	GTT		0.488	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			13	74	0	0	0	0	13	74				
BCL11B	64919	broad.mit.edu	37	14	99641175	99641175	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:99641175G>A	ENST00000357195.3	-	4	2007	c.1998C>T	c.(1996-1998)ccC>ccT	p.P666P	BCL11B_ENST00000345514.2_Silent_p.P595P|BCL11B_ENST00000443726.2_Silent_p.P472P	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	666					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGAAGAGCCCGGGGAAGGGCT	0.796			T	TLX3	T-ALL																																	uc001yga.2		NA		Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				central_nervous_system(8)|large_intestine(1)|lung(1)	10						c.(1996-1998)CCC>CCT		B-cell CLL/lymphoma 11B isoform 1							5.0	5.0	5.0					14																	99641175		1745	3381	5126	SO:0001819	synonymous_variant	64919					nucleus	zinc ion binding	g.chr14:99641175G>A	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1998C>T	14.37:g.99641175G>A						BCL11B_uc001ygb.2_Silent_p.P595P	p.P666P	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	4	2265	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	666					Q9H162	Silent	SNP	ENST00000357195.3	37	c.1998C>T	CCDS9950.1																																																																																				0.796	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		3	11	0	0	0	0	3	11				
DYNC1H1	1778	broad.mit.edu	37	14	102500485	102500485	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:102500485T>G	ENST00000360184.4	+	55	10750	c.10586T>G	c.(10585-10587)tTc>tGc	p.F3529C	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|DYNC1H1_ENST00000556791.1_3'UTR|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3529					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGAACTTGTTCACTACCTGG	0.507																																						uc001yks.2		NA																	0				ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(10585-10587)TTC>TGC		cytoplasmic dynein 1 heavy chain 1							202.0	192.0	196.0					14																	102500485		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102500485T>G	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.10586T>G	14.37:g.102500485T>G	ENSP00000348965:p.Phe3529Cys						p.F3529C	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			55	10750	+			3529					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.10586T>G	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.968443	0.74131	.	.	ENSG00000197102	ENST00000360184	T	0.74421	-0.84	4.94	3.77	0.43336	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.84543	0.5495	M	0.84219	2.685	0.80722	D	1	D	0.71674	0.998	D	0.65443	0.935	D	0.84699	0.0727	10	0.52906	T	0.07	.	11.235	0.48936	0.1372:0.0:0.0:0.8628	.	3529	Q14204	DYHC1_HUMAN	C	3529	ENSP00000348965:F3529C	ENSP00000348965:F3529C	F	+	2	0	DYNC1H1	101570238	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	7.951000	0.87819	0.821000	0.34540	-0.336000	0.08194	TTC		0.507	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		41	219	0	0	0	0	41	219				
CDC42BPB	9578	broad.mit.edu	37	14	103416154	103416154	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:103416154C>A	ENST00000361246.2	-	26	3685	c.3397G>T	c.(3397-3399)Gaa>Taa	p.E1133*		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GATTTTCCTTCAGGCAGATCA	0.527																																						uc001ymi.1		NA																	0				large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11						c.(3397-3399)GAA>TAA		CDC42-binding protein kinase beta							155.0	132.0	140.0					14																	103416154		2203	4300	6503	SO:0001587	stop_gained	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103416154C>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.3397G>T	14.37:g.103416154C>A	ENSP00000355237:p.Glu1133*					CDC42BPB_uc001ymj.1_Nonsense_Mutation_p.E235*	p.E1133*	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	26	3629	-		Melanoma(154;0.155)	1133			PH.			Nonsense_Mutation	SNP	ENST00000361246.2	37	c.3397G>T	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	37	6.449888	0.97577	.	.	ENSG00000198752	ENST00000361246;ENST00000541396	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.3479	0.94372	0.0:1.0:0.0:0.0	.	.	.	.	X	1133;244	.	ENSP00000355237:E1133X	E	-	1	0	CDC42BPB	102485907	1.000000	0.71417	0.656000	0.29637	0.968000	0.65278	7.750000	0.85110	2.650000	0.89964	0.561000	0.74099	GAA		0.527	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		52	90	1	0	8.79e-14	1.53e-13	52	90				
GPR132	29933	broad.mit.edu	37	14	105521755	105521755	+	Start_Codon_SNP	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr14:105521755C>A	ENST00000329797.3	-	3	914	c.3G>T	c.(1-3)atG>atT	p.M1I	GPR132_ENST00000546679.1_Intron|GPR132_ENST00000392585.2_Intron|GPR132_ENST00000539291.2_Start_Codon_SNP_p.M1I	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	1					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		gcattgggcacattcacattc	0.443																																						uc001yqd.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1-3)ATG>ATT		G protein-coupled receptor 132							185.0	173.0	177.0					14																	105521755		2203	4300	6503	SO:0001582	initiator_codon_variant	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105521755C>A	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.3G>T	14.37:g.105521755C>A	ENSP00000328818:p.Met1Ile					GPR132_uc001yqc.2_5'UTR|GPR132_uc001yqe.2_Intron|GPR132_uc010axe.1_RNA	p.M1I	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	3	902	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	1			Extracellular (Potential).		A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	ENST00000329797.3	37	c.3G>T	CCDS9997.1	.	.	.	.	.	.	.	.	.	.	C	1.077	-0.668245	0.03428	.	.	ENSG00000183484	ENST00000329797;ENST00000539291;ENST00000549990	T;T	0.32988	1.43;1.43	0.419	0.419	0.16438	.	100.696000	0.05425	U	0.544974	T	0.23094	0.0558	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34675	-0.9819	8	0.87932	D	0	.	.	.	.	.	1	Q9UNW8	GP132_HUMAN	I	1	ENSP00000328818:M1I;ENSP00000438094:M1I	ENSP00000328818:M1I	M	-	3	0	GPR132	104592800	0.002000	0.14202	0.002000	0.10522	0.040000	0.13550	0.566000	0.23593	0.444000	0.26612	0.195000	0.17529	ATG		0.443	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345	Missense_Mutation	51	96	1	0	9.91e-18	1.8e-17	51	96				
OR4N4	283694	broad.mit.edu	37	15	22383249	22383249	+	Missense_Mutation	SNP	G	G	T	rs112081824	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:22383249G>T	ENST00000328795.4	+	1	868	c.777G>T	c.(775-777)atG>atT	p.M259I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCATCTACATGTGCCCTTTCA	0.453																																						uc001yuc.1		NA																	0				ovary(4)|skin(1)	5						c.(775-777)ATG>ATT		olfactory receptor, family 4, subfamily N,							228.0	202.0	211.0					15																	22383249		2190	4262	6452	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22383249G>T	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.777G>T	15.37:g.22383249G>T	ENSP00000332500:p.Met259Ile					LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.M259I	p.M259I	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	7	1758	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	259			Extracellular (Potential).		Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.777G>T	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	0.016	-1.521797	0.00967	.	.	ENSG00000183706	ENST00000328795	T	0.34859	1.34	3.2	-6.41	0.01938	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000178	T	0.11410	0.0278	N	0.13327	0.33	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32771	-0.9894	10	0.07644	T	0.81	-1.7405	2.6751	0.05079	0.3035:0.1655:0.4088:0.1222	.	259	Q8N0Y3	OR4N4_HUMAN	I	259	ENSP00000332500:M259I	ENSP00000332500:M259I	M	+	3	0	OR4N4	19884613	0.000000	0.05858	0.049000	0.19019	0.010000	0.07245	-5.448000	0.00121	-2.894000	0.00314	-2.355000	0.00241	ATG		0.453	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			41	208	1	0	3.43e-23	6.37e-23	41	208				
MAGEL2	54551	broad.mit.edu	37	15	23890840	23890840	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:23890840G>A	ENST00000532292.1	-	1	335	c.241C>T	c.(241-243)Cct>Tct	p.P81S		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	0					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGCCAGGAAGGCTGGAGCGGC	0.667																																						uc001ywj.3		NA																	0					0						c.(241-243)CCT>TCT		MAGE-like protein 2							9.0	10.0	10.0					15																	23890840		1874	4080	5954	SO:0001583	missense	54551							g.chr15:23890840G>A	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.241C>T	15.37:g.23890840G>A	ENSP00000433433:p.Pro81Ser						p.P81S	NM_019066	NP_061939				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	336	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.241C>T																																																																																					0.667	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		6	9	0	0	0	0	6	9				
NPAP1	23742	broad.mit.edu	37	15	24922500	24922500	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:24922500G>T	ENST00000329468.2	+	1	1960	c.1486G>T	c.(1486-1488)Gac>Tac	p.D496Y		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	496	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TCTCACTTCTGACCCCCCAAC	0.522																																						uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(1486-1488)GAC>TAC		hypothetical protein LOC23742							187.0	199.0	195.0					15																	24922500		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24922500G>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1486G>T	15.37:g.24922500G>T	ENSP00000333735:p.Asp496Tyr						p.D496Y	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	1960	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	496			Pro-rich.			Missense_Mutation	SNP	ENST00000329468.2	37	c.1486G>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	9.562	1.118793	0.20877	.	.	ENSG00000185823	ENST00000329468	T	0.10668	2.85	2.07	-3.29	0.05017	.	10.572500	0.00166	N	0.000003	T	0.17450	0.0419	L	0.29908	0.895	0.09310	N	1	D	0.62365	0.991	D	0.65684	0.937	T	0.20940	-1.0260	10	0.62326	D	0.03	.	3.7524	0.08572	0.2989:0.4049:0.2963:0.0	.	496	Q9NZP6	CO002_HUMAN	Y	496	ENSP00000333735:D496Y	ENSP00000333735:D496Y	D	+	1	0	C15orf2	22473593	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	-0.901000	0.04093	-0.899000	0.03901	-1.740000	0.00687	GAC		0.522	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		43	191	1	0	9.73e-26	1.82e-25	43	191				
ATP10A	57194	broad.mit.edu	37	15	26026179	26026179	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:26026179C>G	ENST00000356865.6	-	2	752	c.641G>C	c.(640-642)gGc>gCc	p.G214A		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	214					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTCCGAGAAGCCGCGGACCAC	0.612																																						uc010ayu.2		NA																	0				pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(640-642)GGC>GCC		ATPase, class V, type 10A							60.0	64.0	62.0					15																	26026179		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:26026179C>G	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.641G>C	15.37:g.26026179C>G	ENSP00000349325:p.Gly214Ala						p.G214A	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	2	747	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	214			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.641G>C	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711702	0.48517	.	.	ENSG00000206190	ENST00000356865	T	0.74842	-0.88	4.67	3.67	0.42095	ATPase, P-type, ATPase-associated domain (1);	0.167861	0.53938	D	0.000045	T	0.73202	0.3557	L	0.39514	1.22	0.39790	D	0.97241	P	0.36974	0.576	P	0.48738	0.588	T	0.72187	-0.4366	10	0.33940	T	0.23	-35.086	12.2648	0.54672	0.0:0.9045:0.0:0.0955	.	214	O60312	AT10A_HUMAN	A	214	ENSP00000349325:G214A	ENSP00000349325:G214A	G	-	2	0	ATP10A	23577272	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	4.449000	0.60034	2.428000	0.82296	0.561000	0.74099	GGC		0.612	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		13	68	0	0	0	0	13	68				
SPTBN5	51332	broad.mit.edu	37	15	42167082	42167082	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:42167082G>A	ENST00000320955.6	-	23	4687	c.4460C>T	c.(4459-4461)gCc>gTc	p.A1487V		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1487					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGCCGGGGAGGCGGCCATGCC	0.637																																						uc001zos.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(4354-4356)GCC>GTC		spectrin, beta, non-erythrocytic 5							31.0	36.0	34.0					15																	42167082		1971	4126	6097	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42167082G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.4460C>T	15.37:g.42167082G>A	ENSP00000317790:p.Ala1487Val						p.A1452V	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	23	4688	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1487			Spectrin 11.			Missense_Mutation	SNP	ENST00000320955.6	37	c.4355C>T		.	.	.	.	.	.	.	.	.	.	.	13.28	2.190835	0.38707	.	.	ENSG00000137877	ENST00000320955	T	0.37058	1.22	4.77	-2.18	0.07037	.	0.796636	0.10981	N	0.612657	T	0.17066	0.0410	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.22800	-1.0206	10	0.30078	T	0.28	.	9.7249	0.40326	0.0:0.1891:0.5376:0.2733	.	1487	Q9NRC6	SPTN5_HUMAN	V	1487	ENSP00000317790:A1487V	ENSP00000317790:A1487V	A	-	2	0	SPTBN5	39954374	0.023000	0.18921	0.000000	0.03702	0.004000	0.04260	0.091000	0.15046	-0.592000	0.05851	0.556000	0.70494	GCC		0.637	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		8	44	0	0	0	0	8	44				
EPB42	2038	broad.mit.edu	37	15	43507460	43507460	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:43507460T>C	ENST00000441366.2	-	3	488	c.263A>G	c.(262-264)aAg>aGg	p.K88R	EPB42_ENST00000540029.1_Intron|EPB42_ENST00000300215.3_Missense_Mutation_p.K118R	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	88					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ACTCCACCACTTTCGGTCCCC	0.562																																						uc001zra.3		NA																	0				ovary(2)	2						c.(262-264)AAG>AGG		erythrocyte membrane protein band 4.2 isoform 2							150.0	120.0	130.0					15																	43507460		2203	4299	6502	SO:0001583	missense	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43507460T>C	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.263A>G	15.37:g.43507460T>C	ENSP00000396616:p.Lys88Arg					EPB42_uc010bde.2_5'UTR|EPB42_uc001zrb.3_Missense_Mutation_p.K118R|EPB42_uc010udm.1_Intron	p.K88R	NM_001114134	NP_001107606	P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	3	563	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	88					Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	c.263A>G	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.737277	0.30774	.	.	ENSG00000166947	ENST00000300215;ENST00000441366;ENST00000397027	D;D	0.86562	-2.14;-2.14	5.29	4.14	0.48551	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.467081	0.26130	N	0.026170	D	0.90659	0.7070	L	0.60957	1.885	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.98;0.994	T	0.82770	-0.0293	10	0.44086	T	0.13	-13.726	10.4259	0.44378	0.0:0.0:0.1641:0.8359	.	118;88	P16452-2;P16452	.;EPB42_HUMAN	R	118;88;88	ENSP00000300215:K118R;ENSP00000396616:K88R	ENSP00000300215:K118R	K	-	2	0	EPB42	41294752	0.433000	0.25562	0.016000	0.15963	0.029000	0.11900	1.531000	0.36018	0.998000	0.38996	0.533000	0.62120	AAG		0.562	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		29	88	0	0	0	0	29	88				
GATM	2628	broad.mit.edu	37	15	45660362	45660362	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:45660362C>T	ENST00000396659.3	-	4	920	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	GATM_ENST00000558336.1_Missense_Mutation_p.R194Q	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	194					cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|embryo development (GO:0009790)|response to mercury ion (GO:0046689)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	glycine amidinotransferase activity (GO:0015068)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines (GO:0016813)			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Glycine(DB00145)|L-Ornithine(DB00129)	CCTGTACGCTCGGTACTCAAA	0.493																																						uc001zvc.2		NA																	0					0						c.(580-582)CGA>CAA		L-arginine:glycine amidinotransferase precursor	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)						121.0	98.0	105.0					15																	45660362		2198	4298	6496	SO:0001583	missense	2628				creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding	g.chr15:45660362C>T	S68805	CCDS10122.1	15q15.1	2007-12-06			ENSG00000171766	ENSG00000171766	2.1.4.1		4175	protein-coding gene	gene with protein product		602360				8313955	Standard	NM_001482		Approved	AGAT	uc001zvc.3	P50440	OTTHUMG00000131427	ENST00000396659.3:c.581G>A	15.37:g.45660362C>T	ENSP00000379895:p.Arg194Gln					GATM_uc001zvb.2_Missense_Mutation_p.R65Q|GATM_uc010uev.1_Missense_Mutation_p.R247Q	p.R194Q	NM_001482	NP_001473	P50440	GATM_HUMAN		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	4	910	-		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	194					B4DH99|B4DPI3|Q53EQ4	Missense_Mutation	SNP	ENST00000396659.3	37	c.581G>A	CCDS10122.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644157	0.67244	.	.	ENSG00000171766	ENST00000396659	T	0.41400	1.0	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.43033	0.1229	L	0.49350	1.555	0.80722	D	1	D;D	0.65815	0.995;0.991	P;B	0.45610	0.487;0.293	T	0.18147	-1.0346	10	0.22706	T	0.39	-8.4667	17.107	0.86666	0.0:1.0:0.0:0.0	.	194;194	P50440-3;P50440	.;GATM_HUMAN	Q	194	ENSP00000379895:R194Q	ENSP00000379895:R194Q	R	-	2	0	GATM	43447654	1.000000	0.71417	0.950000	0.38849	0.972000	0.66771	7.395000	0.79876	2.638000	0.89438	0.460000	0.39030	CGA		0.493	GATM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254220.2	NM_001482		11	43	0	0	0	0	11	43				
PRTG	283659	broad.mit.edu	37	15	55965629	55965629	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:55965629C>T	ENST00000389286.4	-	10	1839	c.1792G>A	c.(1792-1794)Ggg>Agg	p.G598R		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TCTCCCAGCCCCACTCTGGTG	0.488																																						uc002adg.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1792-1794)GGG>AGG		protogenin precursor							68.0	69.0	69.0					15																	55965629		1921	4134	6055	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:55965629C>T	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1792G>A	15.37:g.55965629C>T	ENSP00000373937:p.Gly598Arg					PRTG_uc002adh.2_Missense_Mutation_p.G100R	p.G598R	NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	10	1840	-			598			Fibronectin type-III 2.			Missense_Mutation	SNP	ENST00000389286.4	37	c.1792G>A	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888659	0.91814	.	.	ENSG00000166450	ENST00000389286	T	0.68765	-0.35	4.67	4.67	0.58626	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85898	0.5804	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89801	0.3975	10	0.87932	D	0	-16.4817	16.9427	0.86222	0.0:1.0:0.0:0.0	.	598	Q2VWP7	PRTG_HUMAN	R	598	ENSP00000373937:G598R	ENSP00000373937:G598R	G	-	1	0	PRTG	53752921	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.495000	0.81514	2.306000	0.77630	0.650000	0.86243	GGG		0.488	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		18	70	0	0	0	0	18	70				
AQP9	366	broad.mit.edu	37	15	58458911	58458911	+	Nonsense_Mutation	SNP	C	C	T	rs370192849		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:58458911C>T	ENST00000219919.4	+	2	521	c.151C>T	c.(151-153)Cga>Tga	p.R51*	AQP9_ENST00000536493.1_Nonsense_Mutation_p.R51*|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_5'UTR	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	51					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.R51*(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TATTCTCAGTCGAGGACGTTT	0.468																																						uc002aez.2		NA																	1	Substitution - Nonsense(1)		large_intestine(1)	ovary(1)	1						c.(151-153)CGA>TGA		aquaporin 9							265.0	236.0	246.0					15																	58458911		2192	4292	6484	SO:0001587	stop_gained	366				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	g.chr15:58458911C>T	AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"""Ion channels / Aquaporins"""	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.151C>T	15.37:g.58458911C>T	ENSP00000219919:p.Arg51*					ALDH1A2_uc010ugw.1_Intron|AQP9_uc010ugx.1_5'UTR	p.R51*	NM_020980	NP_066190	O43315	AQP9_HUMAN		GBM - Glioblastoma multiforme(80;0.16)	2	508	+			51			Extracellular (Potential).		Q9NP32	Nonsense_Mutation	SNP	ENST00000219919.4	37	c.151C>T	CCDS10165.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038314	0.75617	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	.	.	.	4.76	3.84	0.44239	.	0.091897	0.46758	D	0.000267	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.71	7.9296	0.29895	0.1837:0.6388:0.1774:0.0	.	.	.	.	X	51	.	ENSP00000219919:R51X	R	+	1	2	AQP9	56246203	0.946000	0.32159	1.000000	0.80357	0.104000	0.19210	0.578000	0.23773	1.213000	0.43380	0.561000	0.74099	CGA		0.468	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980		51	186	0	0	0	0	51	186				
CA12	771	broad.mit.edu	37	15	63632630	63632630	+	Missense_Mutation	SNP	C	C	T	rs372673855		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:63632630C>T	ENST00000178638.3	-	7	1044	c.604G>A	c.(604-606)Gtc>Atc	p.V202I	CA12_ENST00000344366.3_Missense_Mutation_p.V202I|CA12_ENST00000422263.2_Missense_Mutation_p.V142I	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	202					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	AATCCCGGGACGAATGCTTCC	0.562																																						uc002amc.2		NA																	0				ovary(1)	1						c.(604-606)GTC>ATC		carbonic anhydrase XII isoform 1 precursor	Acetazolamide(DB00819)	T	ILE/VAL,ILE/VAL	0,4406		0,0,2203	84.0	73.0	77.0		604,604	-1.1	0.0	15		77	3,8597	819.1+/-406.8	0,3,4297	no	missense,missense	CA12	NM_001218.3,NM_206925.1	29,29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign,benign	202/355,202/344	63632630	3,13003	2203	4300	6503	SO:0001583	missense	771				one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding	g.chr15:63632630C>T	AF051882	CCDS10185.1, CCDS10186.1	15q22	2004-01-19			ENSG00000074410	ENSG00000074410		"""Carbonic anhydrases"""	1371	protein-coding gene	gene with protein product		603263				9636197	Standard	NM_001218		Approved	HsT18816	uc002amc.3	O43570	OTTHUMG00000132881	ENST00000178638.3:c.604G>A	15.37:g.63632630C>T	ENSP00000178638:p.Val202Ile					CA12_uc002amd.2_Missense_Mutation_p.V202I|CA12_uc002ame.2_Missense_Mutation_p.V142I	p.V202I	NM_001218	NP_001209	O43570	CAH12_HUMAN			7	760	-			202			Extracellular (Potential).		B2RE24|Q53YE5|Q9BWG2	Missense_Mutation	SNP	ENST00000178638.3	37	c.604G>A	CCDS10185.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.986294	0.00443	0.0	3.49E-4	ENSG00000074410	ENST00000178638;ENST00000344366;ENST00000422263	T;T;T	0.65178	-0.14;-0.14;-0.14	4.93	-1.06	0.10002	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.395894	0.30771	N	0.008912	T	0.31513	0.0799	N	0.05280	-0.08	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.0	B;B;B	0.12837	0.008;0.003;0.003	T	0.31110	-0.9955	10	0.02654	T	1	.	11.8391	0.52344	0.0:0.5434:0.0:0.4566	.	142;202;202	B3KUB4;O43570-2;O43570	.;.;CAH12_HUMAN	I	202;202;142	ENSP00000178638:V202I;ENSP00000343088:V202I;ENSP00000403028:V142I	ENSP00000178638:V202I	V	-	1	0	CA12	61419683	0.026000	0.19158	0.009000	0.14445	0.000000	0.00434	0.210000	0.17455	-0.319000	0.08652	-0.982000	0.02568	GTC		0.562	CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256370.1	NM_001218		12	49	0	0	0	0	12	49				
IQCH	64799	broad.mit.edu	37	15	67757586	67757586	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:67757586T>G	ENST00000335894.4	+	17	2693	c.2627T>G	c.(2626-2628)gTt>gGt	p.V876G	IQCH_ENST00000360277.4_Missense_Mutation_p.V537G|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000358767.3_Missense_Mutation_p.V612G|IQCH_ENST00000546225.1_Missense_Mutation_p.V533G	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	876										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CCCCGCTTTGTTCCAAAGGAA	0.517																																						uc002aqo.1		NA																	0				skin(3)|ovary(1)	4						c.(2626-2628)GTT>GGT		IQ motif containing H isoform 1							103.0	95.0	98.0					15																	67757586		2201	4299	6500	SO:0001583	missense	64799							g.chr15:67757586T>G	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.2627T>G	15.37:g.67757586T>G	ENSP00000336861:p.Val876Gly					IQCH_uc002aqq.1_Missense_Mutation_p.V533G|IQCH_uc002aqp.1_Missense_Mutation_p.V537G|uc002aqr.1_Intron	p.V876G	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	17	2674	+			876					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	c.2627T>G	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	T	14.36	2.513515	0.44763	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	T;T;T;T	0.47528	0.84;0.84;0.86;0.84	5.07	-6.72	0.01755	.	1.990070	0.02046	N	0.049718	T	0.33702	0.0872	L	0.50333	1.59	0.09310	N	0.999998	B;B;B	0.24132	0.098;0.098;0.049	B;B;B	0.23852	0.03;0.049;0.012	T	0.10870	-1.0611	10	0.23302	T	0.38	-5.8626	0.8968	0.01265	0.3385:0.2837:0.2137:0.1641	.	533;537;876	Q86VS3-2;Q86VS3-4;Q86VS3	.;.;IQCH_HUMAN	G	612;533;876;537	ENSP00000351617:V612G;ENSP00000444118:V533G;ENSP00000336861:V876G;ENSP00000353419:V537G	ENSP00000336861:V876G	V	+	2	0	IQCH	65544640	0.000000	0.05858	0.000000	0.03702	0.634000	0.38068	-0.532000	0.06164	-1.599000	0.01605	0.533000	0.62120	GTT		0.517	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		45	48	0	0	0	0	45	48				
ABHD17C	58489	broad.mit.edu	37	15	80988172	80988172	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:80988172G>T	ENST00000258884.4	+	1	529	c.402G>T	c.(400-402)acG>acT	p.T134T	ABHD17C_ENST00000560609.1_Intron|ABHD17C_ENST00000558464.1_Silent_p.T134T|RP11-28H5.2_ENST00000607458.1_lincRNA	NM_021214.1	NP_067037.1	Q6PCB6	AB17C_HUMAN	abhydrolase domain containing 17C	134							hydrolase activity (GO:0016787)										GCCGCTACACGCTGCTCTTCT	0.652																																						uc002bfu.2		NA																	0					0						c.(400-402)ACG>ACT		hypothetical protein LOC58489							9.0	8.0	9.0					15																	80988172		2139	4170	6309	SO:0001819	synonymous_variant	58489						hydrolase activity	g.chr15:80988172G>T		CCDS45323.1	15q25.1	2013-03-15	2013-03-15	2013-03-15	ENSG00000136379	ENSG00000136379		"""Abhydrolase domain containing"""	26925	protein-coding gene	gene with protein product			"""family with sequence similarity 108, member C1"""	FAM108C1			Standard	NM_021214		Approved		uc002bfu.3	Q6PCB6		ENST00000258884.4:c.402G>T	15.37:g.80988172G>T						FAM108C1_uc002bft.2_Silent_p.T127T	p.T134T	NM_021214	NP_067037	Q6PCB6	F108C_HUMAN			1	521	+			134					Q1RMD6|Q9NPM1	Silent	SNP	ENST00000258884.4	37	c.402G>T	CCDS45323.1																																																																																				0.652	ABHD17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417652.1	NM_021214		5	9	1	0	0.000602214	0.000838832	5	9				
ACAN	176	broad.mit.edu	37	15	89403596	89403596	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:89403596G>T	ENST00000561243.1	+	12	6872	c.6872G>T	c.(6871-6873)gGg>gTg	p.G2291V	ACAN_ENST00000439576.2_Missense_Mutation_p.G2291V|ACAN_ENST00000559004.1_Intron|ACAN_ENST00000352105.7_Intron			P16112	PGCA_HUMAN	aggrecan	2176	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.|G3.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGTGGAGCTGGGACCTGCAAG	0.617																																						uc010upo.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(6871-6873)GGG>GTG		aggrecan isoform 2 precursor							38.0	40.0	39.0					15																	89403596		2008	4160	6168	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89403596G>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6872G>T	15.37:g.89403596G>T	ENSP00000453342:p.Gly2291Val					ACAN_uc010upp.1_Intron|ACAN_uc002bna.2_Intron	p.G2291V	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		13	7246	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2291					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.6872G>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.317948	0.60524	.	.	ENSG00000157766	ENST00000439576;ENST00000268134	D	0.97455	-4.39	4.71	3.79	0.43588	.	.	.	.	.	D	0.98413	0.9472	M	0.90483	3.12	0.46096	D	0.998862	D	0.76494	0.999	D	0.68353	0.957	D	0.99053	1.0828	9	0.87932	D	0	-20.961	12.5804	0.56388	0.0:0.1687:0.8313:0.0	.	2291	E7EX88	.	V	2291;2177	ENSP00000387356:G2291V	ENSP00000268134:G2177V	G	+	2	0	ACAN	87204600	0.999000	0.42202	0.185000	0.23176	0.934000	0.57294	2.490000	0.45294	1.184000	0.42957	0.655000	0.94253	GGG		0.617	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		20	18	1	0	1.01e-13	1.75e-13	20	18				
GDPGP1	390637	broad.mit.edu	37	15	90784840	90784840	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:90784840C>A	ENST00000558017.1	+	4	1120	c.700C>A	c.(700-702)Cca>Aca	p.P234T	GDPGP1_ENST00000329600.6_Missense_Mutation_p.P234T	NM_001013657.2	NP_001013679.2	Q6ZNW5	GDPP1_HUMAN	GDP-D-glucose phosphorylase 1	234					glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)	GDP-D-glucose phosphorylase activity (GO:0080048)|guanyl-nucleotide exchange factor activity (GO:0005085)|hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)|nucleotidyltransferase activity (GO:0016779)										GGAGCAGGCGCCAAGCGAGCC	0.632																																						uc002bpc.2		NA																	0					0						c.(700-702)CCA>ACA		hypothetical protein LOC390637							40.0	38.0	39.0					15																	90784840		2199	4298	6497	SO:0001583	missense	390637				glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity	g.chr15:90784840C>A		CCDS32327.1	15q26.1	2012-05-04	2012-05-04	2012-05-04	ENSG00000183208	ENSG00000183208	2.7.7.78		34360	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 58"""	C15orf58		21507950	Standard	NM_001013657		Approved		uc002bpc.3	Q6ZNW5		ENST00000558017.1:c.700C>A	15.37:g.90784840C>A	ENSP00000452793:p.Pro234Thr						p.P234T	NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN			4	879	+			234						Missense_Mutation	SNP	ENST00000558017.1	37	c.700C>A	CCDS32327.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430527	0.25726	.	.	ENSG00000183208	ENST00000329600	T	0.25414	1.8	5.95	4.98	0.66077	.	0.266129	0.36628	N	0.002500	T	0.43634	0.1256	M	0.72118	2.19	0.42422	D	0.992646	D	0.76494	0.999	D	0.67382	0.951	T	0.16689	-1.0394	10	0.31617	T	0.26	-12.3506	8.9482	0.35771	0.0:0.7714:0.1508:0.0778	.	234	Q6ZNW5	VTC2_HUMAN	T	234	ENSP00000368405:P234T	ENSP00000368405:P234T	P	+	1	0	C15orf58	88585844	0.717000	0.27966	0.341000	0.25589	0.545000	0.35147	2.615000	0.46368	2.824000	0.97209	0.655000	0.94253	CCA		0.632	GDPGP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416973.1	NM_001013657		20	64	1	0	2.38e-13	4.1e-13	20	64				
ARRDC4	91947	broad.mit.edu	37	15	98513117	98513117	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr15:98513117A>G	ENST00000268042.6	+	6	1051	c.887A>G	c.(886-888)tAc>tGc	p.Y296C	ARRDC4_ENST00000538249.1_Missense_Mutation_p.Y209C	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	296					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TATTAGGTATACATTCACATT	0.353																																						uc010bom.2		NA																	0					0						c.(886-888)TAC>TGC		arrestin domain containing 4							49.0	52.0	51.0					15																	98513117		2197	4298	6495	SO:0001583	missense	91947				signal transduction			g.chr15:98513117A>G	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.887A>G	15.37:g.98513117A>G	ENSP00000268042:p.Tyr296Cys					ARRDC4_uc002bui.3_Missense_Mutation_p.Y209C	p.Y296C	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0417)		6	1046	+	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		296					Q6NSI9	Missense_Mutation	SNP	ENST00000268042.6	37	c.887A>G	CCDS10377.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.250235	0.39797	.	.	ENSG00000140450	ENST00000538249;ENST00000268042	T;T	0.16897	2.31;2.31	4.87	4.87	0.63330	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.262419	0.33772	N	0.004564	T	0.21307	0.0513	N	0.11892	0.195	0.51482	D	0.999929	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.964	T	0.06698	-1.0812	10	0.33141	T	0.24	-1.1088	11.0136	0.47677	0.8443:0.1557:0.0:0.0	.	296;209	Q8NCT1;F5H824	ARRD4_HUMAN;.	C	209;296	ENSP00000443774:Y209C;ENSP00000268042:Y296C	ENSP00000268042:Y296C	Y	+	2	0	ARRDC4	96314121	1.000000	0.71417	0.978000	0.43139	0.655000	0.38815	5.745000	0.68672	2.167000	0.68274	0.528000	0.53228	TAC		0.353	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	NM_183376		10	37	0	0	0	0	10	37				
WDR24	84219	broad.mit.edu	37	16	737322	737322	+	Missense_Mutation	SNP	C	C	T	rs145838196	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:737322C>T	ENST00000248142.6	-	7	1143	c.1144G>A	c.(1144-1146)Gcc>Acc	p.A382T	JMJD8_ENST00000293882.4_5'Flank|JMJD8_ENST00000609261.1_5'Flank|LA16c-313D11.12_ENST00000566927.1_RNA|WDR24_ENST00000293883.4_Missense_Mutation_p.A252T|JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000562824.1_5'Flank|JMJD8_ENST00000454700.1_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24	382										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GCCACCGAGGCGATGGTCTGC	0.637																																						uc002ciz.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(754-756)GCC>ACC		WD repeat domain 24		C	THR/ALA	0,4400		0,0,2200	48.0	50.0	49.0		754	4.5	1.0	16	dbSNP_134	49	2,8596	2.2+/-6.3	0,2,4297	no	missense	WDR24	NM_032259.2	58	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	252/791	737322	2,12996	2200	4299	6499	SO:0001583	missense	84219							g.chr16:737322C>T	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.1144G>A	16.37:g.737322C>T	ENSP00000248142:p.Ala382Thr					JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002cix.1_5'Flank|JMJD8_uc002ciy.1_5'Flank	p.A252T	NM_032259	NP_115635	Q96S15	WDR24_HUMAN			3	1514	-		Hepatocellular(780;0.0218)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	ENST00000248142.6	37	c.754G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.110735	0.94292	0.0	2.33E-4	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.29655	1.56;1.56	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.48607	0.1509	L	0.52759	1.655	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.41034	-0.9531	10	0.42905	T	0.14	-17.1036	16.7015	0.85350	0.0:1.0:0.0:0.0	.	252	Q96S15-2	.	T	382;252	ENSP00000248142:A382T;ENSP00000293883:A252T	ENSP00000248142:A382T	A	-	1	0	WDR24	677323	1.000000	0.71417	0.951000	0.38953	0.960000	0.62799	6.948000	0.75965	2.482000	0.83794	0.655000	0.94253	GCC		0.637	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259		21	59	0	0	0	0	21	59				
SOX8	30812	broad.mit.edu	37	16	1035270	1035270	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:1035270C>T	ENST00000293894.3	+	3	1340	c.1225C>T	c.(1225-1227)Cac>Tac	p.H409Y		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	409					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CCCCTGCTTCCACTCGCCGCG	0.697																																						uc002ckn.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1225-1227)CAC>TAC		SRY (sex determining region Y)-box 8							20.0	22.0	21.0					16																	1035270		2195	4287	6482	SO:0001583	missense	30812				adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus		g.chr16:1035270C>T	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"""SRY (sex determining region Y)-boxes"""	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.1225C>T	16.37:g.1035270C>T	ENSP00000293894:p.His409Tyr						p.H409Y	NM_014587	NP_055402	P57073	SOX8_HUMAN			3	1340	+		Hepatocellular(780;0.00308)	409					Q9NZW2	Missense_Mutation	SNP	ENST00000293894.3	37	c.1225C>T	CCDS10428.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688368	0.68271	.	.	ENSG00000005513	ENST00000293894	T	0.80909	-1.43	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	D	0.88855	0.6550	M	0.82517	2.595	0.80722	D	1	D	0.69078	0.997	P	0.61201	0.885	D	0.90666	0.4594	10	0.62326	D	0.03	.	16.0175	0.80455	0.0:1.0:0.0:0.0	.	409	P57073	SOX8_HUMAN	Y	409	ENSP00000293894:H409Y	ENSP00000293894:H409Y	H	+	1	0	SOX8	975271	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.008000	0.49544	2.246000	0.74042	0.650000	0.86243	CAC		0.697	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			10	40	0	0	0	0	10	40				
GLYR1	84656	broad.mit.edu	37	16	4861228	4861228	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:4861228G>T	ENST00000321919.9	-	15	1606	c.1530C>A	c.(1528-1530)gcC>gcA	p.A510A	GLYR1_ENST00000591451.1_Silent_p.A504A|GLYR1_ENST00000436648.5_Silent_p.A429A|GLYR1_ENST00000381983.3_Silent_p.A493A	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	510					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CCAGCGCAATGGCTAAGCGGA	0.498																																						uc002cxx.3		NA																	0					0						c.(1528-1530)GCC>GCA		cytokine-like nuclear factor n-pac							154.0	142.0	146.0					16																	4861228		2197	4300	6497	SO:0001819	synonymous_variant	84656				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr16:4861228G>T	AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.1530C>A	16.37:g.4861228G>T						GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Silent_p.A424A|GLYR1_uc002cya.2_Silent_p.A504A|GLYR1_uc010uxv.1_Silent_p.A429A	p.A510A	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN			15	1567	-			510					B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Silent	SNP	ENST00000321919.9	37	c.1530C>A	CCDS10524.1																																																																																				0.498	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569		35	119	1	0	4.63e-21	8.49e-21	35	119				
GRIN2A	2903	broad.mit.edu	37	16	9858285	9858285	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:9858285G>T	ENST00000396573.2	-	14	3425	c.3116C>A	c.(3115-3117)gCa>gAa	p.A1039E	GRIN2A_ENST00000535259.1_Missense_Mutation_p.A882E|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A1039E|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A1039E|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A1039E|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A1039E	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1039					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCTATTCTCTGCTGTTGCCTC	0.537																																						uc002czo.3		NA																	0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(3115-3117)GCA>GAA		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						133.0	141.0	138.0					16																	9858285		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858285G>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3116C>A	16.37:g.9858285G>T	ENSP00000379818:p.Ala1039Glu					GRIN2A_uc010uym.1_Missense_Mutation_p.A1039E|GRIN2A_uc010uyn.1_Missense_Mutation_p.A882E|GRIN2A_uc002czr.3_Missense_Mutation_p.A1039E	p.A1039E	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	3664	-			1039			Cytoplasmic (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3116C>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.575839	0.00131	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.10382	2.89;2.88;2.88;2.89;2.89	5.33	-5.1	0.02911	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	1.007870	0.07950	N	0.980763	T	0.03095	0.0091	N	0.01705	-0.755	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.47923	-0.9079	9	.	.	.	.	7.612	0.28135	0.2702:0.0:0.5467:0.1831	.	882;1039;1039	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	E	1039;1039;882;1039;1039	ENSP00000379818:A1039E;ENSP00000385872:A1039E;ENSP00000441572:A882E;ENSP00000332549:A1039E;ENSP00000379820:A1039E	.	A	-	2	0	GRIN2A	9765786	0.000000	0.05858	0.000000	0.03702	0.298000	0.27526	0.187000	0.16998	-0.831000	0.04256	-0.290000	0.09829	GCA		0.537	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			88	101	1	0	4.93e-40	9.41e-40	88	101				
TMC5	79838	broad.mit.edu	37	16	19488760	19488760	+	Splice_Site	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:19488760A>T	ENST00000396229.2	+	13	2839		c.e13-1		TMC5_ENST00000219821.5_Splice_Site|TMC5_ENST00000381414.4_Splice_Site|TMC5_ENST00000561503.1_Splice_Site|TMC5_ENST00000541464.1_Splice_Site|TMC5_ENST00000564959.1_Splice_Site|TMC5_ENST00000542583.2_Splice_Site|CTA-363E6.6_ENST00000561762.1_RNA	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5						ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCTTCTGTTTAGAAACATCTT	0.398																																						uc002dgc.3		NA																	0				skin(1)	1						c.e13-2		transmembrane channel-like 5 isoform a							195.0	184.0	187.0					16																	19488760		2197	4300	6497	SO:0001630	splice_region_variant	79838					integral to membrane		g.chr16:19488760A>T	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2091-1A>T	16.37:g.19488760A>T						TMC5_uc010vaq.1_Splice_Site_p.R645_splice|TMC5_uc002dgb.3_Splice_Site_p.R697_splice|TMC5_uc010var.1_Splice_Site_p.R697_splice|TMC5_uc002dgd.1_Splice_Site_p.R451_splice|TMC5_uc002dge.3_Splice_Site_p.R451_splice|TMC5_uc002dgf.3_Splice_Site_p.R380_splice|TMC5_uc002dgg.3_Splice_Site_p.R338_splice	p.R697_splice	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN			13	2840	+								Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Splice_Site	SNP	ENST00000396229.2	37	c.2091_splice	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	a	8.474	0.858297	0.17178	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	.	.	.	4.33	3.23	0.37069	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7213	0.40304	0.9144:0.0:0.0856:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMC5	19396261	1.000000	0.71417	0.953000	0.39169	0.141000	0.21300	7.212000	0.77941	0.625000	0.30304	-0.253000	0.11424	.		0.398	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780	Intron	15	48	0	0	0	0	15	48				
SCNN1G	6340	broad.mit.edu	37	16	23203779	23203779	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:23203779C>A	ENST00000300061.2	+	4	868	c.725C>A	c.(724-726)cCt>cAt	p.P242H	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	242					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GCACAGGTGCCTCTGGAGAAG	0.498																																						uc002dlm.1		NA																	0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(724-726)CCT>CAT		sodium channel, nonvoltage-gated 1, gamma	Amiloride(DB00594)|Triamterene(DB00384)						142.0	123.0	129.0					16																	23203779		2197	4300	6497	SO:0001583	missense	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23203779C>A	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.725C>A	16.37:g.23203779C>A	ENSP00000300061:p.Pro242His						p.P242H	NM_001039	NP_001030	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	4	864	+			242			Extracellular (By similarity).		P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	c.725C>A	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	c	24.8	4.571463	0.86542	.	.	ENSG00000166828	ENST00000300061	T	0.72725	-0.68	5.2	5.2	0.72013	.	1.384010	0.04367	N	0.358480	D	0.83640	0.5298	M	0.64997	1.995	0.45490	D	0.998458	D	0.54207	0.965	P	0.58013	0.831	T	0.72981	-0.4126	10	0.87932	D	0	-29.6934	18.0915	0.89477	0.0:1.0:0.0:0.0	.	242	P51170	SCNNG_HUMAN	H	242	ENSP00000300061:P242H	ENSP00000300061:P242H	P	+	2	0	SCNN1G	23111280	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.886000	0.56190	2.591000	0.87537	0.556000	0.70494	CCT		0.498	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		19	61	1	0	7.08e-05	0.000101615	19	61				
STX4	6810	broad.mit.edu	37	16	31049253	31049253	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:31049253G>C	ENST00000313843.3	+	6	700	c.385G>C	c.(385-387)Gtc>Ctc	p.V129L	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000394998.1_Missense_Mutation_p.V127L	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4	129					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						TTAGCATGGGGTCCTGTCCCA	0.537																																						uc002eal.2		NA																	0					0						c.(385-387)GTC>CTC		syntaxin 4							90.0	94.0	93.0					16																	31049253		2197	4300	6497	SO:0001583	missense	6810				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity	g.chr16:31049253G>C	AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"""syntaxin 4A (placental)"""	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.385G>C	16.37:g.31049253G>C	ENSP00000317714:p.Val129Leu					STX4_uc002eak.2_Missense_Mutation_p.V127L|STX4_uc002eam.2_Missense_Mutation_p.V51L	p.V129L	NM_004604	NP_004595	Q12846	STX4_HUMAN			6	609	+			129			Cytoplasmic (Potential).|Potential.		A8MXY0|Q15525|Q6FHE8	Missense_Mutation	SNP	ENST00000313843.3	37	c.385G>C	CCDS10700.1	.	.	.	.	.	.	.	.	.	.	g	14.60	2.582519	0.46006	.	.	ENSG00000103496	ENST00000394998;ENST00000313843	T;T	0.17054	2.3;2.3	5.42	-0.553	0.11815	t-SNARE (1);Syntaxin, N-terminal (2);	0.436913	0.26119	N	0.026228	T	0.16642	0.0400	M	0.64080	1.96	0.21105	N	0.999786	B;P	0.38617	0.247;0.64	B;B	0.38428	0.273;0.27	T	0.12066	-1.0562	10	0.62326	D	0.03	.	8.7961	0.34881	0.5623:0.0:0.4377:0.0	.	129;127	Q12846;A8MXY0	STX4_HUMAN;.	L	127;129	ENSP00000378447:V127L;ENSP00000317714:V129L	ENSP00000317714:V129L	V	+	1	0	STX4	30956754	0.094000	0.21725	0.846000	0.33378	0.692000	0.40212	1.028000	0.30128	0.035000	0.15519	0.550000	0.68814	GTC		0.537	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3	NM_004604		21	83	0	0	0	0	21	83				
HEATR3	55027	broad.mit.edu	37	16	50118116	50118116	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:50118116A>G	ENST00000299192.7	+	9	1395	c.1204A>G	c.(1204-1206)Agt>Ggt	p.S402G	HEATR3_ENST00000564942.1_3'UTR|HEATR3_ENST00000285767.4_Missense_Mutation_p.S316G	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	402										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAATTCCTTCAGTGAGTGCGG	0.502																																						uc002efw.2		NA																	0				ovary(1)|skin(1)	2						c.(1204-1206)AGT>GGT		HEAT repeat containing 3							134.0	130.0	131.0					16																	50118116		2198	4300	6498	SO:0001583	missense	55027						binding	g.chr16:50118116A>G	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1204A>G	16.37:g.50118116A>G	ENSP00000299192:p.Ser402Gly					HEATR3_uc002efx.2_Missense_Mutation_p.S316G	p.S402G	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN			9	1366	+			402					A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	c.1204A>G	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	A	9.940	1.217245	0.22373	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.30448	1.53;1.53	6.04	3.82	0.43975	Armadillo-type fold (1);	0.415857	0.32518	N	0.005986	T	0.28234	0.0697	M	0.62723	1.935	0.25067	N	0.991028	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.21759	-1.0236	10	0.23891	T	0.37	.	9.216	0.37348	0.7977:0.0:0.2023:0.0	.	316;402	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	G	316;402	ENSP00000285767:S316G;ENSP00000299192:S402G	ENSP00000285767:S316G	S	+	1	0	HEATR3	48675617	0.996000	0.38824	0.280000	0.24747	0.401000	0.30781	3.226000	0.51254	0.538000	0.28769	0.460000	0.39030	AGT		0.502	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922		15	81	0	0	0	0	15	81				
NOD2	64127	broad.mit.edu	37	16	50733572	50733572	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:50733572C>A	ENST00000300589.2	+	2	352	c.247C>A	c.(247-249)Cac>Aac	p.H83N	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	83	CARD 1. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|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)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCCTCTCTCCCACTTGGCCAG	0.637																																						uc002egm.1		NA																	0				ovary(3)|skin(1)	4						c.(247-249)CAC>AAC		nucleotide-binding oligomerization domain							38.0	42.0	41.0					16																	50733572		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50733572C>A	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.247C>A	16.37:g.50733572C>A	ENSP00000300589:p.His83Asn					NOD2_uc010cbj.1_Missense_Mutation_p.H56N|NOD2_uc010cbk.1_Missense_Mutation_p.H56N|NOD2_uc002egl.1_5'UTR	p.H83N	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			2	352	+		all_cancers(37;0.0156)	83			CARD 1.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.247C>A	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	C	9.933	1.215455	0.22373	.	.	ENSG00000167207	ENST00000526417;ENST00000531674;ENST00000300589	T;T	0.20332	2.08;2.08	5.11	0.622	0.17648	DEATH-like (2);Caspase Recruitment (3);	1.239530	0.05666	N	0.587799	T	0.18002	0.0432	L	0.44542	1.39	0.09310	N	0.999999	P	0.35226	0.491	B	0.36959	0.237	T	0.31558	-0.9939	10	0.40728	T	0.16	.	2.7642	0.05315	0.1448:0.5336:0.1419:0.1797	.	83	Q9HC29	NOD2_HUMAN	N	56;56;83	ENSP00000431681:H56N;ENSP00000300589:H83N	ENSP00000300589:H83N	H	+	1	0	NOD2	49291073	0.005000	0.15991	0.408000	0.26446	0.693000	0.40251	0.295000	0.19065	0.551000	0.29008	0.591000	0.81541	CAC		0.637	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		53	49	1	0	9.55e-19	1.74e-18	53	49				
SALL1	6299	broad.mit.edu	37	16	51174936	51174936	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:51174936G>T	ENST00000251020.4	-	2	1230	c.1197C>A	c.(1195-1197)aaC>aaA	p.N399K	SALL1_ENST00000440970.1_Missense_Mutation_p.N302K|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	399					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGAAAACCGAGTTAGCGGAGG	0.498																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NA																	0				skin(5)|ovary(3)	8						c.(1195-1197)AAC>AAA		sal-like 1 isoform a							92.0	96.0	94.0					16																	51174936		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51174936G>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1197C>A	16.37:g.51174936G>T	ENSP00000251020:p.Asn399Lys					SALL1_uc010vgr.1_Missense_Mutation_p.N302K|SALL1_uc010cbv.2_Intron	p.N399K	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1228	-		all_cancers(37;0.0322)	399					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.1197C>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136600	0.37728	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.06608	3.28;3.31	5.18	3.19	0.36642	.	0.084480	0.85682	D	0.000000	T	0.08313	0.0207	L	0.53249	1.67	0.50467	D	0.999871	B	0.28713	0.22	B	0.28139	0.086	T	0.10520	-1.0626	10	0.56958	D	0.05	.	11.6945	0.51536	0.1428:0.0:0.8572:0.0	.	399	Q9NSC2	SALL1_HUMAN	K	399;302;363	ENSP00000251020:N399K;ENSP00000407914:N302K	ENSP00000251020:N399K	N	-	3	2	SALL1	49732437	1.000000	0.71417	0.999000	0.59377	0.900000	0.52787	3.504000	0.53347	0.541000	0.28827	0.563000	0.77884	AAC		0.498	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		32	148	1	0	1.63e-12	2.77e-12	32	148				
SLC12A3	6559	broad.mit.edu	37	16	56899255	56899255	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:56899255C>T	ENST00000563236.1	+	1	133	c.108C>T	c.(106-108)gcC>gcT	p.A36A	SLC12A3_ENST00000262502.5_Silent_p.A36A|SLC12A3_ENST00000566786.1_Silent_p.A36A|SLC12A3_ENST00000438926.2_Silent_p.A36A			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	36					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CACCAGCTGCCTATGACAGCA	0.597																																						uc010ccm.2		NA																	0				ovary(2)|breast(1)	3						c.(106-108)GCC>GCT		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						130.0	106.0	114.0					16																	56899255		2198	4300	6498	SO:0001819	synonymous_variant	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56899255C>T		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.108C>T	16.37:g.56899255C>T						SLC12A3_uc002ekd.3_Silent_p.A36A|SLC12A3_uc010ccn.2_Silent_p.A36A	p.A36A	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			1	137	+			36			Cytoplasmic (Potential).		A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	c.108C>T	CCDS58464.1																																																																																				0.597	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			35	162	0	0	0	0	35	162				
SLC12A3	6559	broad.mit.edu	37	16	56899257	56899257	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:56899257A>T	ENST00000563236.1	+	1	135	c.110A>T	c.(109-111)tAt>tTt	p.Y37F	SLC12A3_ENST00000262502.5_Missense_Mutation_p.Y37F|SLC12A3_ENST00000566786.1_Missense_Mutation_p.Y37F|SLC12A3_ENST00000438926.2_Missense_Mutation_p.Y37F			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	37					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CCAGCTGCCTATGACAGCAGC	0.597																																						uc010ccm.2		NA																	0				ovary(2)|breast(1)	3						c.(109-111)TAT>TTT		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						132.0	108.0	116.0					16																	56899257		2198	4300	6498	SO:0001583	missense	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56899257A>T		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.110A>T	16.37:g.56899257A>T	ENSP00000456149:p.Tyr37Phe					SLC12A3_uc002ekd.3_Missense_Mutation_p.Y37F|SLC12A3_uc010ccn.2_Missense_Mutation_p.Y37F	p.Y37F	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			1	139	+			37			Cytoplasmic (Potential).		A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	c.110A>T	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	A	4.324	0.059451	0.08339	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	D;D	0.84370	-1.84;-1.84	5.09	-2.88	0.05682	.	0.771452	0.12175	N	0.492627	T	0.65913	0.2737	N	0.08118	0	0.09310	N	1	B;B;B	0.24651	0.066;0.066;0.108	B;B;B	0.30179	0.053;0.052;0.112	T	0.55464	-0.8137	10	0.10377	T	0.69	.	9.2117	0.37322	0.505:0.1008:0.3941:0.0	.	37;37;37	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	F	37	ENSP00000402152:Y37F;ENSP00000262502:Y37F	ENSP00000262502:Y37F	Y	+	2	0	SLC12A3	55456758	0.000000	0.05858	0.597000	0.28824	0.795000	0.44927	0.043000	0.13971	-0.473000	0.06871	-1.139000	0.01908	TAT		0.597	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			38	164	0	0	0	0	38	164				
SLC12A3	6559	broad.mit.edu	37	16	56917998	56917998	+	Silent	SNP	G	G	T	rs138625602		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:56917998G>T	ENST00000563236.1	+	14	1732	c.1707G>T	c.(1705-1707)gcG>gcT	p.A569A	SLC12A3_ENST00000262502.5_Silent_p.A568A|SLC12A3_ENST00000566786.1_Silent_p.A568A|SLC12A3_ENST00000438926.2_Silent_p.A569A			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	569			A -> E (in GS). {ECO:0000269|PubMed:10616841}.|A -> V (in GS). {ECO:0000269|PubMed:15069170}.		chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	ACAAGTGGGCGGCGCTGTTTG	0.592																																						uc010ccm.2		NA																	0				ovary(2)|breast(1)	3						c.(1705-1707)GCG>GCT		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						186.0	145.0	159.0					16																	56917998		2198	4300	6498	SO:0001819	synonymous_variant	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56917998G>T		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1707G>T	16.37:g.56917998G>T						SLC12A3_uc002ekd.3_Silent_p.A569A|SLC12A3_uc010ccn.2_Silent_p.A568A	p.A569A	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			14	1736	+			569		A -> V (in GS).|A -> E (in GS).	Cytoplasmic (Potential).		A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	c.1707G>T	CCDS58464.1																																																																																				0.592	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			10	83	1	0	1.09e-07	1.69e-07	10	83				
ZFP90	146198	broad.mit.edu	37	16	68591909	68591909	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:68591909G>A	ENST00000570495.1	+	3	334	c.42G>A	c.(40-42)gtG>gtA	p.V14V	ZFP90_ENST00000563169.2_Silent_p.V14V|ZFP90_ENST00000398253.2_Silent_p.V14V|ZFP90_ENST00000564323.1_Silent_p.V14V|ZFP90_ENST00000570884.1_3'UTR			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	14	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AGGAATCAGTGACATTCAAAG	0.463																																						uc010cff.2		NA																	0				ovary(1)	1						c.(40-42)GTG>GTA		zinc finger protein 90							140.0	137.0	138.0					16																	68591909		2178	4296	6474	SO:0001819	synonymous_variant	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68591909G>A	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.42G>A	16.37:g.68591909G>A						ZFP90_uc002ewb.2_5'UTR|ZFP90_uc002ewc.2_5'UTR|ZFP90_uc002ewd.2_Silent_p.V14V|ZFP90_uc002ewe.2_Silent_p.V14V	p.V14V	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	3	334	+		Ovarian(137;0.192)	14			KRAB.		B2RU00|B3KVE7|Q49AD1|Q96MQ6	Silent	SNP	ENST00000570495.1	37	c.42G>A	CCDS42183.1																																																																																				0.463	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		22	135	0	0	0	0	22	135				
HAS3	3038	broad.mit.edu	37	16	69148385	69148385	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:69148385G>C	ENST00000306560.1	+	4	1034	c.878G>C	c.(877-879)aGc>aCc	p.S293T	HAS3_ENST00000569188.1_Missense_Mutation_p.S293T|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	293					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TACCGCAACAGCCTCCTCCAG	0.597																																						uc010cfh.2		NA																	0					0						c.(877-879)AGC>ACC		hyaluronan synthase 3 isoform a							104.0	92.0	96.0					16																	69148385		2198	4300	6498	SO:0001583	missense	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69148385G>C	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.878G>C	16.37:g.69148385G>C	ENSP00000304440:p.Ser293Thr					HAS3_uc002ewk.2_Intron|HAS3_uc002ewl.2_Missense_Mutation_p.S293T	p.S293T	NM_005329	NP_005320	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	4	1102	+		Ovarian(137;0.101)	293			Cytoplasmic (Potential).		A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	ENST00000306560.1	37	c.878G>C	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.347542	0.24426	.	.	ENSG00000103044	ENST00000306560	T	0.61627	0.09	5.95	4.94	0.65067	.	0.173439	0.64402	D	0.000007	T	0.53899	0.1825	L	0.52011	1.625	0.33921	D	0.640838	B	0.02656	0.0	B	0.13407	0.009	T	0.60596	-0.7232	10	0.42905	T	0.14	-7.3176	16.979	0.86322	0.0:0.1722:0.8278:0.0	.	293	O00219	HAS3_HUMAN	T	293	ENSP00000304440:S293T	ENSP00000304440:S293T	S	+	2	0	HAS3	67705886	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.365000	0.52335	2.824000	0.97209	0.655000	0.94253	AGC		0.597	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		26	87	0	0	0	0	26	87				
DHX38	9785	broad.mit.edu	37	16	72132917	72132917	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:72132917T>A	ENST00000268482.3	+	6	1365	c.856T>A	c.(856-858)Tcc>Acc	p.S286T	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	286					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				ACACTTGGGGTCCACCCCGCG	0.617																																					Melanoma(97;711 1442 7855 13832 28836)	uc002fcb.2		NA																	0				skin(1)	1						c.(856-858)TCC>ACC		DEAH (Asp-Glu-Ala-His) box polypeptide 38							46.0	46.0	46.0					16																	72132917		2198	4300	6498	SO:0001583	missense	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72132917T>A	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.856T>A	16.37:g.72132917T>A	ENSP00000268482:p.Ser286Thr					DHX38_uc010vmp.1_Intron|DHX38_uc010cgn.1_RNA	p.S286T	NM_014003	NP_054722	Q92620	PRP16_HUMAN			6	1211	+		Ovarian(137;0.125)	286					B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	c.856T>A	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	T	11.49	1.654363	0.29425	.	.	ENSG00000140829	ENST00000268482	T	0.02974	4.09	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.04137	0.0115	L	0.55481	1.735	0.80722	D	1	B	0.18610	0.029	B	0.12837	0.008	T	0.40961	-0.9535	10	0.30078	T	0.28	.	11.8456	0.52383	0.0:0.0:0.2249:0.7751	.	286	Q92620	PRP16_HUMAN	T	286	ENSP00000268482:S286T	ENSP00000268482:S286T	S	+	1	0	DHX38	70690418	0.979000	0.34478	1.000000	0.80357	0.297000	0.27493	1.984000	0.40658	1.958000	0.56883	0.460000	0.39030	TCC		0.617	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		8	23	0	0	0	0	8	23				
NUDT7	283927	broad.mit.edu	37	16	77759434	77759434	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:77759434G>T	ENST00000268533.5	+	2	211	c.142G>T	c.(142-144)Gct>Tct	p.A48S	NUDT7_ENST00000568787.1_Missense_Mutation_p.A48S|NUDT7_ENST00000564085.1_Missense_Mutation_p.A48S|NUDT7_ENST00000563839.1_Intron|NUDT7_ENST00000437314.3_Missense_Mutation_p.A48S	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	48	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						GCCATTGGTGGCTAAAGAAGG	0.428																																						uc010chd.2		NA																	0				ovary(1)|kidney(1)	2						c.(142-144)GCT>TCT		nudix motif 7							109.0	108.0	109.0					16																	77759434		1856	4087	5943	SO:0001583	missense	283927				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding	g.chr16:77759434G>T	AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"""Nudix motif containing"""	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.142G>T	16.37:g.77759434G>T	ENSP00000268533:p.Ala48Ser					NUDT7_uc002fff.2_Missense_Mutation_p.A48S|NUDT7_uc010vnj.1_Missense_Mutation_p.A48S	p.A48S	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN			2	211	+			48			Nudix hydrolase.		B4DLE5|H3BUB8	Missense_Mutation	SNP	ENST00000268533.5	37	c.142G>T	CCDS42195.1	.	.	.	.	.	.	.	.	.	.	G	5.753	0.323285	0.10900	.	.	ENSG00000140876	ENST00000268533;ENST00000437314	T;T	0.46819	3.19;0.86	5.51	3.43	0.39272	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	1.317480	0.04964	N	0.462594	T	0.45135	0.1327	L	0.48935	1.535	0.80722	D	1	P;P	0.41848	0.763;0.737	B;B	0.43508	0.229;0.422	T	0.45629	-0.9248	10	0.06757	T	0.87	0.7102	10.9576	0.47366	0.0:0.0:0.6334:0.3666	.	48;48	B4DLE5;P0C024	.;NUDT7_HUMAN	S	48	ENSP00000268533:A48S;ENSP00000387707:A48S	ENSP00000268533:A48S	A	+	1	0	NUDT7	76316935	0.958000	0.32768	0.393000	0.26258	0.038000	0.13279	1.519000	0.35888	1.260000	0.44134	0.557000	0.71058	GCT		0.428	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433873.1			12	50	1	0	0.00136819	0.00188976	12	50				
VAT1L	57687	broad.mit.edu	37	16	77918505	77918505	+	Splice_Site	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:77918505T>C	ENST00000302536.2	+	7	1036	c.883T>C	c.(883-885)Tgg>Cgg	p.W295R		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	295							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CTCTTTGCAGTGGTGGCAGGT	0.502																																						uc002ffg.1		NA																	0				central_nervous_system(1)	1						c.(883-885)TGG>CGG		vesicle amine transport protein 1 homolog (T.							54.0	46.0	49.0					16																	77918505		2198	4300	6498	SO:0001630	splice_region_variant	57687						oxidoreductase activity|zinc ion binding	g.chr16:77918505T>C	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.883-1T>C	16.37:g.77918505T>C							p.W295R	NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN			7	980	+			295					Q8IYW8	Missense_Mutation	SNP	ENST00000302536.2	37	c.883T>C	CCDS32492.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.324381	0.81580	.	.	ENSG00000171724	ENST00000302536	T	0.08546	3.08	5.92	5.92	0.95590	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.35189	0.0923	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.19516	-1.0303	9	.	.	.	-2.0546	16.0209	0.80493	0.0:0.0:0.0:1.0	.	295	Q9HCJ6	VAT1L_HUMAN	R	295	ENSP00000303129:W295R	.	W	+	1	0	VAT1L	76476006	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.698000	0.84413	2.266000	0.75297	0.455000	0.32223	TGG		0.502	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927	Missense_Mutation	8	23	0	0	0	0	8	23				
SNAI3	333929	broad.mit.edu	37	16	88747799	88747799	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:88747799C>T	ENST00000332281.5	-	2	486	c.400G>A	c.(400-402)Ggg>Agg	p.G134R	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	134					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	copper ion binding (GO:0005507)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G134R(1)		NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		TCCGGAGCCCCGTGCCGGTCT	0.667																																					Colon(27;366 710 19748 23199 27567)	uc002flj.2		NA																	1	Substitution - Missense(1)		NS(1)	ovary(1)	1						c.(400-402)GGG>AGG		snail homolog 3							45.0	56.0	52.0					16																	88747799		2198	4299	6497	SO:0001583	missense	333929				oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding	g.chr16:88747799C>T	BC041461	CCDS32505.1	16q24.3	2013-05-23	2013-05-23			ENSG00000185669		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	18411	protein-coding gene	gene with protein product		612741	"""zinc finger protein 293"", ""snail homolog 3 (Drosophila)"""	ZNF293		12579345	Standard	NM_178310		Approved	SMUC, Zfp293	uc002flj.3	Q3KNW1		ENST00000332281.5:c.400G>A	16.37:g.88747799C>T	ENSP00000327968:p.Gly134Arg					MGC23284_uc002fli.3_Intron	p.G134R	NM_178310	NP_840101	Q3KNW1	SNAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.048)	2	468	-			134					Q86SU5	Missense_Mutation	SNP	ENST00000332281.5	37	c.400G>A	CCDS32505.1	.	.	.	.	.	.	.	.	.	.	C	4.889	0.165211	0.09339	.	.	ENSG00000185669	ENST00000332281	T	0.06449	3.3	4.64	-2.91	0.05631	.	2.065270	0.01995	N	0.045808	T	0.03959	0.0111	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41413	-0.9510	10	0.33940	T	0.23	0.982	8.5383	0.33377	0.0:0.3365:0.1238:0.5397	.	134	Q3KNW1	SNAI3_HUMAN	R	134	ENSP00000327968:G134R	ENSP00000327968:G134R	G	-	1	0	SNAI3	87275300	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.196000	0.09532	-0.792000	0.04480	-1.579000	0.00862	GGG		0.667	SNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422582.1			59	75	0	0	0	0	59	75				
DPEP1	1800	broad.mit.edu	37	16	89696828	89696828	+	Missense_Mutation	SNP	G	G	A	rs150374214	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr16:89696828G>A	ENST00000393092.3	+	2	301	c.10G>A	c.(10-12)Gga>Aga	p.G4R	DPEP1_ENST00000261615.4_Missense_Mutation_p.G4R|DPEP1_ENST00000421184.1_Missense_Mutation_p.G4R	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	4					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CATGTGGAGCGGATGGTGGCT	0.632																																						uc010cin.2		NA																	0				large_intestine(1)	1						c.(10-12)GGA>AGA		dipeptidase 1 precursor	Cilastatin(DB01597)	G	ARG/GLY,ARG/GLY	4,4392	8.1+/-20.4	0,4,2194	69.0	69.0	69.0		10,10	-4.1	0.0	16	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	DPEP1	NM_001128141.1,NM_004413.3	125,125	0,5,6493	AA,AG,GG		0.0116,0.091,0.0385	benign,benign	4/412,4/412	89696828	5,12991	2198	4300	6498	SO:0001583	missense	1800				proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr16:89696828G>A		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.10G>A	16.37:g.89696828G>A	ENSP00000376807:p.Gly4Arg					DPEP1_uc002fnr.3_Missense_Mutation_p.G4R|DPEP1_uc002fns.3_Missense_Mutation_p.G4R	p.G4R	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0258)	2	213	+		all_lung(18;0.0054)|all_hematologic(23;0.094)	4					D3DX80|Q96AK2	Missense_Mutation	SNP	ENST00000393092.3	37	c.10G>A	CCDS10982.1	.	.	.	.	.	.	.	.	.	.	G	2.336	-0.352142	0.05173	9.1E-4	1.16E-4	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.22134	1.97;1.97;1.97	3.82	-4.05	0.03998	.	1.241800	0.05172	N	0.499776	T	0.09818	0.0241	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.32693	-0.9897	10	0.44086	T	0.13	.	5.7804	0.18304	0.4559:0.0:0.4107:0.1335	.	4	P16444	DPEP1_HUMAN	R	4	ENSP00000397313:G4R;ENSP00000376807:G4R;ENSP00000261615:G4R	ENSP00000261615:G4R	G	+	1	0	DPEP1	88224329	0.000000	0.05858	0.032000	0.17829	0.000000	0.00434	-2.293000	0.01145	-0.934000	0.03733	-0.946000	0.02672	GGA		0.632	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1	NM_001128141		16	91	0	0	0	0	16	91				
CLUH	23277	broad.mit.edu	37	17	2604689	2604689	+	Silent	SNP	G	G	A	rs375026335		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:2604689G>A	ENST00000570628.2	-	6	861	c.756C>T	c.(754-756)acC>acT	p.T252T	CLUH_ENST00000435359.1_Silent_p.T252T|CLUH_ENST00000538975.1_Silent_p.T252T			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	252					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											GTGTGGACGCGGTGATGCTGA	0.652																																						uc002fuy.1		NA																	0				breast(2)	2						c.(754-756)ACC>ACT		hypothetical protein LOC23277		G		1,4269		0,1,2134	26.0	33.0	31.0		756	-9.3	0.2	17		31	6,8462		0,6,4228	no	coding-synonymous	KIAA0664	NM_015229.3		0,7,6362	AA,AG,GG		0.0709,0.0234,0.055		252/1310	2604689	7,12731	2135	4234	6369	SO:0001819	synonymous_variant	23277						binding	g.chr17:2604689G>A	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.756C>T	17.37:g.2604689G>A						KIAA0664_uc002fux.1_Silent_p.T184T	p.T252T	NM_015229	NP_056044	O75153	K0664_HUMAN			6	842	-			252					Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Silent	SNP	ENST00000570628.2	37	c.756C>T	CCDS45572.1																																																																																				0.652	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		10	2	0	0	0	0	10	2				
USP6	9098	broad.mit.edu	37	17	5050447	5050447	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:5050447G>A	ENST00000574788.1	+	29	4619	c.2389G>A	c.(2389-2391)Gtc>Atc	p.V797I	USP6_ENST00000332776.4_Intron|USP6_ENST00000304328.5_Missense_Mutation_p.V480I|USP6_ENST00000250066.6_Missense_Mutation_p.V797I			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	797	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGAAATTCCTGTCCCTTCATC	0.398			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	uc002gau.1		NA		Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts		0				skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						c.(2389-2391)GTC>ATC		ubiquitin specific protease 6							183.0	165.0	171.0					17																	5050447		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5050447G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.2389G>A	17.37:g.5050447G>A	ENSP00000460380:p.Val797Ile					USP6_uc002gav.1_Missense_Mutation_p.V797I|USP6_uc010ckz.1_Missense_Mutation_p.V480I	p.V797I	NM_004505	NP_004496	P35125	UBP6_HUMAN			29	4619	+			797					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.2389G>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	1.978	-0.434828	0.04669	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.13538	2.98;2.58	2.5	1.38	0.22167	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.331184	0.35646	N	0.003063	T	0.07863	0.0197	L	0.31664	0.95	0.26782	N	0.969589	B;B	0.15930	0.004;0.015	B;B	0.12837	0.002;0.008	T	0.34825	-0.9813	10	0.19590	T	0.45	.	5.448	0.16546	0.8427:0.0:0.1573:0.0	.	480;797	P35125-2;P35125	.;UBP6_HUMAN	I	797;480	ENSP00000250066:V797I;ENSP00000305473:V480I	ENSP00000250066:V797I	V	+	1	0	USP6	4991171	0.913000	0.31002	0.970000	0.41538	0.243000	0.25628	1.664000	0.37439	0.215000	0.20761	0.184000	0.17185	GTC		0.398	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		17	39	0	0	0	0	17	39				
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTGTGCGCCGGTCTCTCCCA	0.557		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		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)CGG>TGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	71.0	75.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	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.chr17:7577094G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	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.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	p.R282W	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1038	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; 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.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	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	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	14	0	0	0	0	22	14				
ELAC2	60528	broad.mit.edu	37	17	12916588	12916588	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:12916588C>A	ENST00000338034.4	-	6	734	c.495G>T	c.(493-495)gtG>gtT	p.V165V	ELAC2_ENST00000578071.1_Missense_Mutation_p.C146F|ELAC2_ENST00000395962.2_Silent_p.V146V|ELAC2_ENST00000609345.1_5'UTR|ELAC2_ENST00000426905.3_Silent_p.V165V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	165				V -> M (in Ref. 2; AK001392). {ECO:0000305}.	mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						AGTGGGGCCGCACAGCTACAA	0.493																																						uc002gnz.3		NA																	0					0						c.(493-495)GTG>GTT		elaC homolog 2 isoform 1							126.0	93.0	104.0					17																	12916588		2203	4300	6503	SO:0001819	synonymous_variant	60528	Hereditary_Prostate_Cancer			tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	g.chr17:12916588C>A	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.495G>T	17.37:g.12916588C>A						ELAC2_uc010vvo.1_5'UTR|ELAC2_uc010vvp.1_Silent_p.V146V|ELAC2_uc010vvq.1_Silent_p.V165V|ELAC2_uc010vvr.1_Silent_p.V165V	p.V165V	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN			6	590	-			165	V -> M (in Ref. 2; AK001392).				B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Silent	SNP	ENST00000338034.4	37	c.495G>T	CCDS11164.1																																																																																				0.493	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			9	15	1	0	3.1e-07	4.78e-07	9	15				
CDRT1	374286	broad.mit.edu	37	17	15517267	15517267	+	Missense_Mutation	SNP	C	C	G	rs575128109	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:15517267C>G	ENST00000395906.3	-	3	750	c.751G>C	c.(751-753)Ggg>Cgg	p.G251R	RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.G561R	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	251										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		GGATCGTACCCTGGCTTGGTT	0.478													C|||	2	0.000399361	0.0	0.0	5008	,	,		12876	0.0		0.0	False		,,,				2504	0.002					uc002gor.1		NA																	0				ovary(2)|skin(1)	3						c.(1681-1683)GGG>CGG		SubName: Full=Putative uncharacterized protein; Flags: Fragment;							41.0	93.0	76.0					17																	15517267		2111	4285	6396	SO:0001583	missense	10626				histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding	g.chr17:15517267C>G	U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	14379	protein-coding gene	gene with protein product		604596	"""F-box and WD repeat domain containing 10 pseudogene 1"", ""F-box and WD-40 domain protein 10 pseudogene 1"""	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.751G>C	17.37:g.15517267C>G	ENSP00000379242:p.Gly251Arg					CDRT1_uc002gov.3_Missense_Mutation_p.G251R	p.G561R			O95361	TRI16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)	9	2018	-			Error:Variant_position_missing_in_O95361_after_alignment					O43848|O95611	Missense_Mutation	SNP	ENST00000395906.3	37	c.1681G>C	CCDS45619.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.71|14.71	2.617261|2.617261	0.46736|0.46736	.|.	.|.	ENSG00000251537|ENSG00000251537	ENST00000261644;ENST00000395906|ENST00000455584	T|.	0.28454|.	1.61|.	4.82|4.82	1.64|1.64	0.23874|0.23874	.|.	1.062490|.	0.07493|.	N|.	0.906051|.	T|T	0.38161|0.38161	0.1030|0.1030	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	P;B|.	0.50272|.	0.933;0.01|.	B;B|.	0.42386|.	0.386;0.005|.	T|T	0.27905|0.27905	-1.0060|-1.0060	10|5	0.72032|.	D|.	0.01|.	.|.	5.1292|5.1292	0.14901|0.14901	0.1656:0.6568:0.0:0.1776|0.1656:0.6568:0.0:0.1776	.|.	251;575|.	O95170;Q59EB2|.	CDRT1_HUMAN;.|.	R|H	251|575	ENSP00000379242:G251R|.	ENSP00000261644:G251R|.	G|Q	-|-	1|3	0|2	RP11-385D13.1|RP11-385D13.1	15457992|15457992	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.196000|0.196000	0.23810|0.23810	0.577000|0.577000	0.23758|0.23758	0.298000|0.298000	0.22638|0.22638	0.484000|0.484000	0.47621|0.47621	GGG|CAG		0.478	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382		8	121	0	0	0	0	8	121				
NCOR1	9611	broad.mit.edu	37	17	16068406	16068406	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:16068406G>C	ENST00000268712.3	-	5	762	c.505C>G	c.(505-507)Caa>Gaa	p.Q169E	NCOR1_ENST00000395848.1_Missense_Mutation_p.Q60E|NCOR1_ENST00000395851.1_Missense_Mutation_p.Q169E	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	169	Interaction with ZBTB33 and HEXIM1.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GAAGCATTTTGATCATCTCCA	0.393																																						uc002gpo.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(505-507)CAA>GAA		nuclear receptor co-repressor 1							102.0	98.0	99.0					17																	16068406		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16068406G>C	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.505C>G	17.37:g.16068406G>C	ENSP00000268712:p.Gln169Glu					NCOR1_uc002gpn.2_Missense_Mutation_p.Q169E|NCOR1_uc002gpp.1_Missense_Mutation_p.Q60E|NCOR1_uc002gpr.2_Missense_Mutation_p.Q60E|NCOR1_uc002gps.1_Missense_Mutation_p.Q169E|NCOR1_uc010coz.1_Translation_Start_Site|NCOR1_uc010cpb.1_Missense_Mutation_p.Q169E|NCOR1_uc010cpa.1_Missense_Mutation_p.Q169E|NCOR1_uc002gpu.2_Missense_Mutation_p.Q169E	p.Q169E	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	5	745	-			169			Interaction with ZBTB33 and HEXIM1.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.505C>G	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035811	0.35893	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	T;T;T;T;T	0.31769	1.48;1.48;1.48;2.1;2.1	5.04	5.04	0.67666	.	0.106589	0.64402	D	0.000003	T	0.35219	0.0924	L	0.47716	1.5	0.80722	D	1	B;B;P;B;P;P;P	0.45715	0.021;0.036;0.649;0.036;0.865;0.833;0.859	B;B;B;B;P;P;P	0.47673	0.028;0.028;0.228;0.028;0.497;0.451;0.554	T	0.03922	-1.0992	10	0.15952	T	0.53	-14.6814	17.4183	0.87507	0.0:0.0:1.0:0.0	.	169;169;169;169;60;169;169	E7EU93;E7EV02;Q3B773;E7EW50;E9PGV6;O75376;O75376-2	.;.;.;.;.;NCOR1_HUMAN;.	E	169;169;60;169;60;169;169	ENSP00000268712:Q169E;ENSP00000379192:Q169E;ENSP00000379189:Q60E;ENSP00000407998:Q169E;ENSP00000387727:Q169E	ENSP00000268712:Q169E	Q	-	1	0	NCOR1	16009131	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.489000	0.73641	2.349000	0.79799	0.478000	0.44815	CAA		0.393	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		3	98	0	0	0	0	3	98				
HEATR9	256957	broad.mit.edu	37	17	34182684	34182684	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:34182684T>A	ENST00000311880.2	-	14	1497	c.1349A>T	c.(1348-1350)cAg>cTg	p.Q450L	C17orf66_ENST00000592980.1_Missense_Mutation_p.Q410L	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		450					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CTTCACAGCCTGGTGGTTTTC	0.532																																						uc002hke.1		NA																	0				breast(2)|skin(1)	3						c.(1348-1350)CAG>CTG		hypothetical protein LOC256957							127.0	117.0	121.0					17																	34182684		2203	4300	6503	SO:0001583	missense	256957						binding	g.chr17:34182684T>A																												ENST00000311880.2:c.1349A>T	17.37:g.34182684T>A	ENSP00000309560:p.Gln450Leu					C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Missense_Mutation_p.Q410L	p.Q450L	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	14	1498	-		Ovarian(249;0.17)	450					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	ENST00000311880.2	37	c.1349A>T	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	T	1.897	-0.454038	0.04540	.	.	ENSG00000172653	ENST00000311880	T	0.16743	2.32	4.38	0.451	0.16629	Armadillo-like helical (1);Armadillo-type fold (1);	0.758088	0.11266	N	0.582043	T	0.09113	0.0225	N	0.19112	0.55	0.09310	N	1	B;B	0.12013	0.004;0.005	B;B	0.10450	0.003;0.005	T	0.36456	-0.9747	10	0.27785	T	0.31	.	4.5152	0.11932	0.3403:0.0:0.1759:0.4838	.	410;450	A2RTY3-3;A2RTY3	.;CQ066_HUMAN	L	450	ENSP00000309560:Q450L	ENSP00000309560:Q450L	Q	-	2	0	C17orf66	31206797	0.101000	0.21875	0.010000	0.14722	0.081000	0.17604	0.812000	0.27211	0.189000	0.20188	0.460000	0.39030	CAG		0.532	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			43	43	0	0	0	0	43	43				
CCR7	1236	broad.mit.edu	37	17	38711638	38711638	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:38711638G>A	ENST00000246657.2	-	3	555	c.493C>T	c.(493-495)Cac>Tac	p.H165Y	CCR7_ENST00000579344.1_Missense_Mutation_p.H159Y	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	165					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				CGGTGGCGGTGAGCTGAGACA	0.552																																						uc002huw.2		NA																	0				breast(1)	1						c.(493-495)CAC>TAC		chemokine (C-C motif) receptor 7 precursor							68.0	58.0	62.0					17																	38711638		2203	4300	6503	SO:0001583	missense	1236				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding	g.chr17:38711638G>A		CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.493C>T	17.37:g.38711638G>A	ENSP00000246657:p.His165Tyr						p.H165Y	NM_001838	NP_001829	P32248	CCR7_HUMAN			3	556	-		Breast(137;0.000496)	165			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000246657.2	37	c.493C>T	CCDS11369.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198518	0.58126	.	.	ENSG00000126353	ENST00000246657	T	0.38887	1.11	5.16	5.16	0.70880	GPCR, rhodopsin-like superfamily (1);	0.165617	0.50627	D	0.000108	T	0.40094	0.1103	L	0.38531	1.155	0.58432	D	0.999995	B	0.21688	0.059	B	0.30401	0.115	T	0.14980	-1.0453	10	0.33141	T	0.24	.	18.8239	0.92108	0.0:0.0:1.0:0.0	.	165	P32248	CCR7_HUMAN	Y	165	ENSP00000246657:H165Y	ENSP00000246657:H165Y	H	-	1	0	CCR7	35965164	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.403000	0.73264	2.692000	0.91855	0.561000	0.74099	CAC		0.552	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1			5	31	0	0	0	0	5	31				
KRTAP4-4	84616	broad.mit.edu	37	17	39316759	39316759	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:39316759T>C	ENST00000390661.3	-	1	224	c.185A>G	c.(184-186)cAc>cGc	p.H62R		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	62	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Missing (in allele KAP4.13). {ECO:0000269|PubMed:11279113}.|Missing (in allele KAP4.4-v1).			keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCTGGGGTGGCAGCAGGT	0.662																																						uc002hwc.2		NA																	0					0						c.(184-186)CAC>CGC		keratin associated protein 4.4							39.0	48.0	45.0					17																	39316759		2200	4294	6494	SO:0001583	missense	84616					keratin filament		g.chr17:39316759T>C	AJ406936	CCDS11383.1	17q21.2	2013-06-25			ENSG00000171396	ENSG00000171396		"""Keratin associated proteins"""	16928	protein-coding gene	gene with protein product			"""keratin associated protein 4-13"""	KRTAP4-13		11279113	Standard	NM_032524		Approved	KAP4.4, KAP4.13	uc002hwc.3	Q9BYR3	OTTHUMG00000133428	ENST00000390661.3:c.185A>G	17.37:g.39316759T>C	ENSP00000375076:p.His62Arg						p.H62R	NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	225	-		Breast(137;0.000496)	62		Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1).	9.|26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Q9BYU7	Missense_Mutation	SNP	ENST00000390661.3	37	c.185A>G	CCDS11383.1	.	.	.	.	.	.	.	.	.	.	.	3.774	-0.047123	0.07407	.	.	ENSG00000171396	ENST00000390661	T	0.01203	5.18	5.19	-0.262	0.12958	.	0.000000	0.30101	N	0.010409	T	0.00210	0.0006	N	0.00010	-3.015	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46978	-0.9152	10	0.13108	T	0.6	.	4.2837	0.10844	0.153:0.4186:0.0:0.4284	.	62	Q9BYR3	KRA44_HUMAN	R	62	ENSP00000375076:H62R	ENSP00000375076:H62R	H	-	2	0	KRTAP4-4	36570285	0.000000	0.05858	0.243000	0.24186	0.582000	0.36321	-0.494000	0.06451	0.042000	0.15717	-0.142000	0.14014	CAC		0.662	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257291.1			3	122	0	0	0	0	3	122				
BECN1	8678	broad.mit.edu	37	17	40970594	40970594	+	Silent	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:40970594G>C	ENST00000361523.4	-	6	588	c.456C>G	c.(454-456)ctC>ctG	p.L152L	BECN1_ENST00000438274.3_Intron|BECN1_ENST00000590099.1_Silent_p.L152L	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	152					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CAGTGACGTTGAGCTGAGTGT	0.512																																						uc002ibo.3		NA																	0				ovary(1)	1						c.(454-456)CTC>CTG		beclin 1							98.0	87.0	91.0					17																	40970594		2203	4300	6503	SO:0001819	synonymous_variant	8678				anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding	g.chr17:40970594G>C	AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"""ATG6 autophagy related 6 homolog (S. cerevisiae)"""	604378	"""beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"""			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.456C>G	17.37:g.40970594G>C						BECN1_uc010whb.1_Silent_p.L65L|BECN1_uc010whc.1_Intron|BECN1_uc002ibn.2_Silent_p.L152L	p.L152L	NM_003766	NP_003757	Q14457	BECN1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	6	591	-		Breast(137;0.00104)	152			Potential.		B2R6N7|O75595|Q9UNA8	Silent	SNP	ENST00000361523.4	37	c.456C>G	CCDS11441.1																																																																																				0.512	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1	NM_003766		14	57	0	0	0	0	14	57				
BRCA1	672	broad.mit.edu	37	17	41226510	41226510	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:41226510C>T	ENST00000357654.3	-	14	4631	c.4513G>A	c.(4513-4515)Gat>Aat	p.D1505N	BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.D401N|BRCA1_ENST00000591534.1_5'UTR|BRCA1_ENST00000468300.1_Missense_Mutation_p.D401N|BRCA1_ENST00000471181.2_Missense_Mutation_p.D1526N|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.D363N|BRCA1_ENST00000351666.3_Missense_Mutation_p.D322N|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.D1458N|BRCA1_ENST00000309486.4_Missense_Mutation_p.D1209N	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1505					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CACCTATCATCTAATGATGGG	0.443			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2		NA	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		0				ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52						c.(4513-4515)GAT>AAT	Homologous_recombination	breast cancer 1, early onset isoform 1							75.0	77.0	77.0					17																	41226510		2203	4300	6503	SO:0001583	missense	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41226510C>T	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.4513G>A	17.37:g.41226510C>T	ENSP00000350283:p.Asp1505Asn	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Missense_Mutation_p.D354N|BRCA1_uc010whl.1_Missense_Mutation_p.D401N|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.D1434N|BRCA1_uc002icu.2_Missense_Mutation_p.D401N|BRCA1_uc010cyx.2_Missense_Mutation_p.D1458N|BRCA1_uc002ict.2_Missense_Mutation_p.D1526N|BRCA1_uc010whn.1_5'UTR|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Missense_Mutation_p.D234N|BRCA1_uc002idc.1_Missense_Mutation_p.D401N|BRCA1_uc010whr.1_Missense_Mutation_p.D355N	p.D1505N	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	14	4745	-		Breast(137;0.000717)	1505					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.4513G>A	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	6.077	0.382453	0.11524	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000352993;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919	D;D;D;D;D;D;D;D;D;D;D	0.89939	-2.17;-2.26;-2.32;-2.07;-2.14;-2.59;-2.14;-2.3;-2.01;-1.81;-2.22	5.19	0.702	0.18110	.	0.808950	0.10933	N	0.618189	T	0.80576	0.4649	L	0.32530	0.975	0.09310	N	1	B;B;B;B;B;B;B;B	0.21606	0.001;0.058;0.0;0.001;0.0;0.0;0.013;0.001	B;B;B;B;B;B;B;B	0.18561	0.001;0.022;0.0;0.003;0.001;0.001;0.015;0.005	T	0.66035	-0.6023	10	0.33940	T	0.23	.	6.5483	0.22418	0.0:0.5865:0.0:0.4135	.	401;354;400;402;401;1527;1505;1505	E7EUM2;B4DES0;E7ETR2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2	.;.;.;.;.;.;BRCA1_HUMAN;.	N	1505;1526;363;322;1209;401;354;1527;1458;400;401;276;355	ENSP00000350283:D1505N;ENSP00000312236:D363N;ENSP00000338007:D322N;ENSP00000310938:D1209N;ENSP00000417148:D401N;ENSP00000377294:D354N;ENSP00000418960:D1527N;ENSP00000418775:D1458N;ENSP00000420412:D401N;ENSP00000419481:D276N;ENSP00000418819:D355N	ENSP00000310938:D1209N	D	-	1	0	BRCA1	38480036	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.476000	0.06591	0.340000	0.23745	0.650000	0.86243	GAT		0.443	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		11	38	0	0	0	0	11	38				
STRADA	92335	broad.mit.edu	37	17	61781806	61781806	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:61781806G>A	ENST00000336174.6	-	11	1107	c.995C>T	c.(994-996)cCc>cTc	p.P332L	STRADA_ENST00000582137.1_Missense_Mutation_p.P303L|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000375840.4_Missense_Mutation_p.P274L|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000579340.1_3'UTR|STRADA_ENST00000392950.4_Missense_Mutation_p.P295L|STRADA_ENST00000447001.3_Missense_Mutation_p.P288L	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	332	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						GGAGGGCCGGGGGGTGCTGGT	0.642																																						uc002jbm.2		NA																	0				ovary(1)	1						c.(994-996)CCC>CTC		STE20-related kinase adaptor alpha isoform 1							32.0	33.0	32.0					17																	61781806		2202	4300	6502	SO:0001583	missense	92335				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity	g.chr17:61781806G>A	AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"""STE20-like pseudokinase"""	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.995C>T	17.37:g.61781806G>A	ENSP00000336655:p.Pro332Leu					STRADA_uc002jbn.2_Missense_Mutation_p.P274L|STRADA_uc002jbo.2_Missense_Mutation_p.P295L|STRADA_uc002jbp.2_Missense_Mutation_p.P295L|STRADA_uc002jbq.2_Missense_Mutation_p.P274L|STRADA_uc010wpq.1_Missense_Mutation_p.P288L|STRADA_uc010wpr.1_Missense_Mutation_p.P303L|STRADA_uc010ddw.2_Missense_Mutation_p.P303L|STRADA_uc002jbr.2_3'UTR	p.P332L	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN			11	1154	-			332			Protein kinase.		B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Missense_Mutation	SNP	ENST00000336174.6	37	c.995C>T	CCDS32703.1	.	.	.	.	.	.	.	.	.	.	G	9.013	0.983074	0.18889	.	.	ENSG00000125695	ENST00000336174;ENST00000375840;ENST00000447001;ENST00000392950;ENST00000245865	T;T;T;T	0.56776	0.47;0.48;0.44;0.49	4.91	2.8	0.32819	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.517985	0.21296	N	0.076896	T	0.27524	0.0676	N	0.14661	0.345	0.32431	N	0.548056	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.12630	-1.0540	10	0.32370	T	0.25	.	1.7342	0.02938	0.1844:0.2823:0.3833:0.15	.	303;288;274;295;295;332	B4DW17;B4DDE3;Q5JPI2;Q7RTN6-2;Q7RTN6-3;Q7RTN6	.;.;.;.;.;STRAA_HUMAN	L	332;274;288;295;294	ENSP00000336655:P332L;ENSP00000365000:P274L;ENSP00000398841:P288L;ENSP00000376677:P295L	ENSP00000245865:P294L	P	-	2	0	STRADA	59135538	0.934000	0.31675	0.998000	0.56505	0.791000	0.44710	0.807000	0.27140	1.263000	0.44181	0.491000	0.48974	CCC		0.642	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443894.1			23	22	0	0	0	0	23	22				
LRRC37A3	374819	broad.mit.edu	37	17	62854905	62854905	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:62854905G>A	ENST00000584306.1	-	12	5331	c.4801C>T	c.(4801-4803)Ctc>Ttc	p.L1601F	LRRC37A3_ENST00000400877.3_Missense_Mutation_p.L639F|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.L578F|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.L1601F|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.L719F	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1601						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACCTCAATGAGGCAGAGAAGT	0.378																																						uc002jey.2		NA																	0					0						c.(4801-4803)CTC>TTC		leucine rich repeat containing 37, member A3							131.0	132.0	132.0					17																	62854905		2203	4300	6503	SO:0001583	missense	374819					integral to membrane		g.chr17:62854905G>A	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.4801C>T	17.37:g.62854905G>A	ENSP00000464535:p.Leu1601Phe					LRRC37A3_uc010wqg.1_Missense_Mutation_p.L719F|LRRC37A3_uc002jex.1_Missense_Mutation_p.L578F|LRRC37A3_uc010wqf.1_Missense_Mutation_p.L639F	p.L1601F	NM_199340	NP_955372	O60309	L37A3_HUMAN			12	5332	-			1601			Helical; (Potential).		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	c.4801C>T	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.623344	0.28889	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.59364	0.27;0.27;0.27	2.39	1.39	0.22231	.	.	.	.	.	T	0.69006	0.3063	M	0.73217	2.22	0.21473	N	0.999671	D;D	0.71674	0.998;0.984	D;D	0.80764	0.994;0.969	T	0.54636	-0.8264	9	0.52906	T	0.07	.	5.3958	0.16268	0.1737:0.0:0.8263:0.0	.	719;1601	B4DG20;O60309	.;L37A3_HUMAN	F	682;639;578;1601	ENSP00000383674:L639F;ENSP00000335617:L578F;ENSP00000325713:L1601F	ENSP00000325713:L1601F	L	-	1	0	LRRC37A3	60285367	0.926000	0.31397	0.186000	0.23195	0.001000	0.01503	1.266000	0.33039	0.340000	0.23745	-1.207000	0.01640	CTC		0.378	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		9	48	0	0	0	0	9	48				
RGS9	8787	broad.mit.edu	37	17	63133680	63133680	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:63133680C>A	ENST00000262406.9	+	1	89	c.22C>A	c.(22-24)Cag>Aag	p.Q8K	RGS9_ENST00000443584.3_Missense_Mutation_p.Q8K|RGS9_ENST00000449996.3_Missense_Mutation_p.Q8K	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	8					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						ACACCAAGGCCAGCAGTACAG	0.617																																						uc002jfe.2		NA																	0				ovary(2)|skin(2)	4						c.(22-24)CAG>AAG		regulator of G-protein signaling 9 isoform 1							53.0	58.0	57.0					17																	63133680		1960	4136	6096	SO:0001583	missense	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63133680C>A	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.22C>A	17.37:g.63133680C>A	ENSP00000262406:p.Gln8Lys					RGS9_uc010dem.2_Missense_Mutation_p.Q8K|RGS9_uc002jfd.2_Missense_Mutation_p.Q8K|RGS9_uc002jff.2_RNA	p.Q8K	NM_003835	NP_003826	O75916	RGS9_HUMAN			1	132	+			8					A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	c.22C>A	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104022	0.37145	.	.	ENSG00000108370	ENST00000262406;ENST00000449996;ENST00000443584	T;T;T	0.32515	1.47;1.45;1.46	4.01	4.01	0.46588	.	0.060009	0.64402	D	0.000002	T	0.45736	0.1357	L	0.46157	1.445	0.35015	D	0.757271	D;D;D	0.89917	0.96;1.0;1.0	D;D;D	0.83275	0.912;0.992;0.996	T	0.55780	-0.8087	10	0.46703	T	0.11	.	11.8004	0.52124	0.0:1.0:0.0:0.0	.	8;8;8	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	K	8	ENSP00000262406:Q8K;ENSP00000396329:Q8K;ENSP00000405814:Q8K	ENSP00000262406:Q8K	Q	+	1	0	RGS9	60564142	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.599000	0.54045	2.229000	0.72834	0.313000	0.20887	CAG		0.617	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		18	43	1	0	4.63e-17	8.3e-17	18	43				
ITGB4	3691	broad.mit.edu	37	17	73738820	73738820	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:73738820C>T	ENST00000200181.3	+	25	3127	c.2940C>T	c.(2938-2940)aaC>aaT	p.N980N	ITGB4_ENST00000449880.2_Silent_p.N980N|ITGB4_ENST00000450894.3_Silent_p.N980N|ITGB4_ENST00000339591.3_Silent_p.N980N|ITGB4_ENST00000579662.1_Silent_p.N980N	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	980	Calx-beta.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCTGGTAAACATCACCATCA	0.637																																						uc002jpg.2		NA																	0				lung(4)	4						c.(2938-2940)AAC>AAT		integrin beta 4 isoform 1 precursor							33.0	30.0	31.0					17																	73738820		2202	4298	6500	SO:0001819	synonymous_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73738820C>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.2940C>T	17.37:g.73738820C>T						ITGB4_uc002jph.2_Silent_p.N980N|ITGB4_uc002jpi.3_Silent_p.N980N|ITGB4_uc010dgp.1_3'UTR|ITGB4_uc002jpj.2_Silent_p.N980N	p.N980N	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		25	3127	+	all_cancers(13;1.5e-07)		980			Cytoplasmic (Potential).|Calx-beta.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	c.2940C>T	CCDS11727.1																																																																																				0.637	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			8	69	0	0	0	0	8	69				
RNF213	57674	broad.mit.edu	37	17	78321975	78321975	+	Silent	SNP	G	G	A	rs144070062		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr17:78321975G>A	ENST00000582970.1	+	29	9983	c.9840G>A	c.(9838-9840)gcG>gcA	p.A3280A	RNF213_ENST00000508628.2_Silent_p.A3329A|RNF213_ENST00000336301.6_Silent_p.A1353A	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3280					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGTTCGCAGCGGAGTGGCTGT	0.617													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19802	0.0		0.0	False		,,,				2504	0.0					uc002jyh.1		NA																	0				ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(4057-4059)GCG>GCA		ring finger protein 213		G		1,4405	2.1+/-5.4	0,1,2202	60.0	51.0	54.0		9987	-9.6	0.0	17	dbSNP_134	54	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	RNF213	NM_020914.4		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		3329/5257	78321975	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78321975G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.9840G>A	17.37:g.78321975G>A							p.A1353A	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		4	4282	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.4059G>A	CCDS58606.1																																																																																				0.617	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		31	42	0	0	0	0	31	42				
LDLRAD4	753	broad.mit.edu	37	18	13621178	13621178	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr18:13621178A>T	ENST00000359446.5	+	4	712	c.244A>T	c.(244-246)Atc>Ttc	p.I82F	LDLRAD4_ENST00000587757.1_Missense_Mutation_p.I45F|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.I45F|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.I82F|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.I82F|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.I5F	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	82					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										GGTGGTGGTCATCGTCTGCCT	0.617																																						uc002ksa.2		NA																	0				ovary(2)|skin(1)	3						c.(244-246)ATC>TTC		hypothetical protein LOC753 isoform alpha 1							206.0	151.0	170.0					18																	13621178		2203	4300	6503	SO:0001583	missense	753					integral to membrane|plasma membrane		g.chr18:13621178A>T	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.244A>T	18.37:g.13621178A>T	ENSP00000352420:p.Ile82Phe					C18orf1_uc002ksb.2_Missense_Mutation_p.I82F|C18orf1_uc002kse.2_Missense_Mutation_p.I45F|C18orf1_uc002ksf.2_Missense_Mutation_p.I45F|C18orf1_uc002ksg.1_Missense_Mutation_p.I5F|C18orf1_uc002ksh.1_Missense_Mutation_p.I24F|C18orf1_uc002ksi.1_Missense_Mutation_p.I24F	p.I82F	NM_181481	NP_852146	O15165	CR001_HUMAN		READ - Rectum adenocarcinoma(73;0.0642)	5	912	+			82			Helical; (Potential).		B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	c.244A>T	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.719386	0.89205	.	.	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.35048	1.33;1.45	5.58	1.87	0.25490	.	0.158913	0.56097	D	0.000037	T	0.45915	0.1366	M	0.77103	2.36	0.53688	D	0.999975	P;P;P;P;P;P	0.52463	0.741;0.953;0.879;0.953;0.867;0.892	P;P;P;P;P;P	0.50270	0.448;0.636;0.448;0.636;0.503;0.511	T	0.44314	-0.9336	10	0.87932	D	0	-22.9506	8.913	0.35565	0.7782:0.0:0.2218:0.0	.	24;24;45;45;82;82	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	F	82;82;45;45;24;24	ENSP00000354753:I82F;ENSP00000382741:I82F	ENSP00000352420:I45F	I	+	1	0	C18orf1	13611178	1.000000	0.71417	0.780000	0.31762	0.984000	0.73092	3.992000	0.56980	0.091000	0.17302	0.533000	0.62120	ATC		0.617	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		41	110	0	0	0	0	41	110				
ATP8B1	5205	broad.mit.edu	37	18	55368510	55368510	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr18:55368510G>A	ENST00000283684.4	-	4	428	c.429C>T	c.(427-429)acC>acT	p.T143T	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000589147.1_5'UTR|ATP8B1_ENST00000536015.1_Silent_p.T143T			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	143					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GCACTAGTGTGGTGTACCAAG	0.458																																						uc002lgw.2		NA																	0				breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10						c.(427-429)ACC>ACT		ATPase, class I, type 8B, member 1							149.0	136.0	141.0					18																	55368510		2203	4300	6503	SO:0001819	synonymous_variant	5205	Byler_disease			ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55368510G>A	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.429C>T	18.37:g.55368510G>A						uc002lgv.1_Intron	p.T143T	NM_005603	NP_005594	O43520	AT8B1_HUMAN			4	429	-		Colorectal(73;0.229)	143			Helical; (Potential).		Q9BTP8	Silent	SNP	ENST00000283684.4	37	c.429C>T	CCDS11965.1																																																																																				0.458	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		23	18	0	0	0	0	23	18				
CNDP1	84735	broad.mit.edu	37	18	72245483	72245483	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr18:72245483C>T	ENST00000358821.3	+	9	1316	c.1088C>T	c.(1087-1089)aCa>aTa	p.T363I	CNDP1_ENST00000582365.1_Missense_Mutation_p.T320I	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	363						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GGAACTAAAACAGTCATACCT	0.423																																					Melanoma(32;1029 1042 25286 38395 44237)	uc002llq.2		NA																	0					0						c.(1087-1089)ACA>ATA		carnosinase 1 precursor							133.0	127.0	129.0					18																	72245483		2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72245483C>T		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.1088C>T	18.37:g.72245483C>T	ENSP00000351682:p.Thr363Ile					CNDP1_uc002lls.2_Missense_Mutation_p.T166I	p.T363I	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	9	1299	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	363					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.1088C>T	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744358	0.69418	.	.	ENSG00000150656	ENST00000358821	T	0.59772	0.24	5.64	5.64	0.86602	Peptidase M20, dimerisation (1);	0.000000	0.85682	D	0.000000	D	0.85531	0.5718	H	0.97291	3.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90349	0.4365	10	0.87932	D	0	-27.9347	19.2999	0.94140	0.0:1.0:0.0:0.0	.	363	Q96KN2	CNDP1_HUMAN	I	363	ENSP00000351682:T363I	ENSP00000351682:T363I	T	+	2	0	CNDP1	70396463	1.000000	0.71417	0.988000	0.46212	0.168000	0.22595	7.538000	0.82048	2.654000	0.90174	0.650000	0.86243	ACA		0.423	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		22	21	0	0	0	0	22	21				
GALR1	2587	broad.mit.edu	37	18	74962925	74962925	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr18:74962925C>G	ENST00000299727.3	+	1	421	c.421C>G	c.(421-423)Cgg>Ggg	p.R141G		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	141					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CGTGCACTCGCGGCGCTCCTC	0.652																																						uc002lms.3		NA																	0				lung(1)	1						c.(421-423)CGG>GGG		galanin receptor 1							60.0	52.0	55.0					18																	74962925		2203	4299	6502	SO:0001583	missense	2587				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr18:74962925C>G	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"""GPCR / Class A : Galanin receptors"""	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.421C>G	18.37:g.74962925C>G	ENSP00000299727:p.Arg141Gly						p.R141G	NM_001480	NP_001471	P47211	GALR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)	1	918	+		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	141			Cytoplasmic (Potential).		Q4VBL7	Missense_Mutation	SNP	ENST00000299727.3	37	c.421C>G	CCDS12012.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340950	0.24339	.	.	ENSG00000166573	ENST00000299727	T	0.37058	1.22	4.49	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.28962	0.0719	L	0.31371	0.925	0.50467	D	0.999875	B	0.22211	0.066	B	0.28011	0.085	T	0.19811	-1.0294	10	0.66056	D	0.02	.	13.1263	0.59358	0.3983:0.6017:0.0:0.0	.	141	P47211	GALR1_HUMAN	G	141	ENSP00000299727:R141G	ENSP00000299727:R141G	R	+	1	2	GALR1	73091913	0.620000	0.27068	0.997000	0.53966	0.556000	0.35491	1.164000	0.31810	0.845000	0.35118	0.591000	0.81541	CGG		0.652	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1			16	18	0	0	0	0	16	18				
ADNP2	22850	broad.mit.edu	37	18	77896155	77896155	+	Silent	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr18:77896155G>C	ENST00000262198.4	+	4	3314	c.2859G>C	c.(2857-2859)ccG>ccC	p.P953P		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	953					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|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(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AGGCCCAGCCGGGTTTTATTC	0.532																																						uc002lnw.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(2857-2859)CCG>CCC		ADNP homeobox 2							69.0	74.0	72.0					18																	77896155		2203	4300	6503	SO:0001819	synonymous_variant	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77896155G>C	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.2859G>C	18.37:g.77896155G>C							p.P953P	NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	3314	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	953					A8K951|O94943|Q9H9P3	Silent	SNP	ENST00000262198.4	37	c.2859G>C	CCDS32853.1																																																																																				0.532	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		22	29	0	0	0	0	22	29				
SLC25A23	79085	broad.mit.edu	37	19	6442073	6442073	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:6442073G>T	ENST00000301454.4	-	10	1426	c.1320C>A	c.(1318-1320)ccC>ccA	p.P440P	SLC25A23_ENST00000414491.2_Silent_p.P201P|SLC25A23_ENST00000601760.1_Intron	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	440					adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						TCATGAAGTTGGGGGCGATCC	0.622																																						uc002mex.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1318-1320)CCC>CCA		solute carrier family 25, member 23							53.0	42.0	46.0					19																	6442073		2203	4300	6503	SO:0001819	synonymous_variant	79085				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr19:6442073G>T	AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"""Solute carriers"", ""EF-hand domain containing"""	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.1320C>A	19.37:g.6442073G>T						SLC25A23_uc010duu.1_Intron|SLC25A23_uc002meu.2_Intron|SLC25A23_uc002mev.2_Intron|SLC25A23_uc002mew.1_Intron|SLC25A23_uc010xjd.1_Silent_p.P201P	p.P440P	NM_024103	NP_077008	Q9BV35	SCMC3_HUMAN			10	1462	-			440			Solcar 3.|Helical; Name=6; (Potential).		B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Silent	SNP	ENST00000301454.4	37	c.1320C>A	CCDS32882.1																																																																																				0.622	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453325.1	NM_024103		8	48	1	0	0.000274275	0.000385606	8	48				
RAB11B	9230	broad.mit.edu	37	19	8464858	8464858	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:8464858G>T	ENST00000328024.6	+	2	370	c.152G>T	c.(151-153)cGc>cTc	p.R51L	RAB11B_ENST00000601897.1_Intron|RAB11B_ENST00000594216.1_Missense_Mutation_p.R51L	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	51					cellular response to acidic pH (GO:0071468)|constitutive secretory pathway (GO:0045054)|establishment of protein localization to membrane (GO:0090150)|GTP catabolic process (GO:0006184)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|melanosome transport (GO:0032402)|receptor recycling (GO:0001881)|regulated secretory pathway (GO:0045055)|regulation of anion transport (GO:0044070)|regulation of endocytic recycling (GO:2001135)|regulation of protein localization to cell surface (GO:2000008)|retrograde transport, endosome to plasma membrane (GO:1990126)|small GTPase mediated signal transduction (GO:0007264)|transferrin transport (GO:0033572)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)|synaptic vesicle (GO:0008021)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			large_intestine(2)|lung(1)|ovary(1)	4						TTCGCCACCCGCAGCATCCAG	0.662																																						uc002mju.3		NA																	0					0						c.(151-153)CGC>CTC		RAB11B, member RAS oncogene family							85.0	72.0	77.0					19																	8464858		2203	4300	6503	SO:0001583	missense	9230				cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	g.chr19:8464858G>T	X79780	CCDS12201.1	19p13.2	2012-07-02			ENSG00000185236	ENSG00000185236		"""RAB, member RAS oncogene"""	9761	protein-coding gene	gene with protein product		604198				7811277	Standard	NM_004218		Approved	H-YPT3	uc002mju.4	Q15907		ENST00000328024.6:c.152G>T	19.37:g.8464858G>T	ENSP00000333547:p.Arg51Leu					RAB11B_uc010xkd.1_Missense_Mutation_p.R51L	p.R51L	NM_004218	NP_004209	Q15907	RB11B_HUMAN			2	248	+			51					A5YM50|B2R7I4|B4DMK0|D6W671|Q2YDT2|Q5U0I1|Q6FHR0|Q6FI42|Q8NI07	Missense_Mutation	SNP	ENST00000328024.6	37	c.152G>T	CCDS12201.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119925	0.94385	.	.	ENSG00000185236	ENST00000328024	T	0.77489	-1.1	4.23	4.23	0.50019	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.82774	0.5110	L	0.41356	1.27	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.71184	0.972;0.971	D	0.85101	0.0957	10	0.87932	D	0	.	15.6927	0.77466	0.0:0.0:1.0:0.0	.	51;51	B4DMK0;Q15907	.;RB11B_HUMAN	L	51	ENSP00000333547:R51L	ENSP00000333547:R51L	R	+	2	0	RAB11B	8370858	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.341000	0.79615	0.462000	0.41574	CGC		0.662	RAB11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460343.2	NM_004218		16	42	1	0	1.57e-10	2.61e-10	16	42				
MUC16	94025	broad.mit.edu	37	19	9062568	9062568	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:9062568G>T	ENST00000397910.4	-	3	25081	c.24878C>A	c.(24877-24879)tCt>tAt	p.S8293Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8295	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACAGGAAGAGAAGCGGAAGG	0.512																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(24877-24879)TCT>TAT		mucin 16							80.0	79.0	79.0					19																	9062568		1983	4167	6150	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062568G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24878C>A	19.37:g.9062568G>T	ENSP00000381008:p.Ser8293Tyr						p.S8293Y	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	25082	-			8295			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.24878C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.084	0.013448	0.07959	.	.	ENSG00000181143	ENST00000397910	T	0.25414	1.8	2.7	0.384	0.16244	.	.	.	.	.	T	0.20740	0.0499	L	0.29908	0.895	.	.	.	P	0.46020	0.871	P	0.46850	0.529	T	0.24297	-1.0164	8	0.87932	D	0	.	5.1609	0.15060	0.3006:0.0:0.6994:0.0	.	8293	B5ME49	.	Y	8293	ENSP00000381008:S8293Y	ENSP00000381008:S8293Y	S	-	2	0	MUC16	8923568	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.192000	0.17096	0.185000	0.20105	0.385000	0.25706	TCT		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		16	79	1	0	1.36e-06	2.06e-06	16	79				
MUC16	94025	broad.mit.edu	37	19	9071210	9071210	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:9071210T>C	ENST00000397910.4	-	3	16439	c.16236A>G	c.(16234-16236)acA>acG	p.T5412T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5414	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGCGGCTTCTGTGTGTGCAG	0.502																																						uc002mkp.2		NA																	0		p.T5412K(1)		lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(16234-16236)ACA>ACG		mucin 16							450.0	424.0	433.0					19																	9071210		2089	4231	6320	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071210T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16236A>G	19.37:g.9071210T>C							p.T5412T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	16440	-			5414			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.16236A>G	CCDS54212.1																																																																																				0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		93	449	0	0	0	0	93	449				
TSPAN16	26526	broad.mit.edu	37	19	11422874	11422874	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:11422874C>A	ENST00000316737.1	+	6	813	c.663C>A	c.(661-663)agC>agA	p.S221R	TSPAN16_ENST00000592955.1_Missense_Mutation_p.S196R|CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000590327.1_Missense_Mutation_p.S221R	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	221						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						TGAGTGGGAGCTCTCTGGGAG	0.483																																						uc002mqv.1		NA																	0				skin(1)	1						c.(661-663)AGC>AGA		transmembrane 4 superfamily member 16							56.0	54.0	55.0					19																	11422874		2203	4300	6503	SO:0001583	missense	26526					integral to membrane		g.chr19:11422874C>A	BC029908	CCDS12256.1, CCDS62549.1, CCDS62550.1	19p13.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000130167	ENSG00000130167		"""Tetraspanins"""	30725	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 16"""	TM4SF16		10500248	Standard	NM_012466		Approved	TM4-B, TM-8	uc002mqv.1	Q9UKR8	OTTHUMG00000180833	ENST00000316737.1:c.663C>A	19.37:g.11422874C>A	ENSP00000319486:p.Ser221Arg					TSPAN16_uc002mqu.1_RNA|uc002mqw.1_Intron	p.S221R	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN			6	813	+			221			Cytoplasmic (Potential).		K7EN22|K7EPD8|Q8N6J7	Missense_Mutation	SNP	ENST00000316737.1	37	c.663C>A	CCDS12256.1	.	.	.	.	.	.	.	.	.	.	C	8.344	0.829334	0.16749	.	.	ENSG00000130167	ENST00000316737	T	0.79653	-1.29	3.27	1.04	0.20106	.	2.270080	0.02043	N	0.049473	T	0.65450	0.2692	N	0.08118	0	0.09310	N	1	B	0.23735	0.09	B	0.22880	0.042	T	0.58188	-0.7680	10	0.72032	D	0.01	0.0059	5.72	0.17982	0.0:0.742:0.0:0.258	.	221	Q9UKR8	TSN16_HUMAN	R	221	ENSP00000319486:S221R	ENSP00000319486:S221R	S	+	3	2	TSPAN16	11283874	0.005000	0.15991	0.002000	0.10522	0.088000	0.18126	0.272000	0.18644	0.368000	0.24481	0.561000	0.74099	AGC		0.483	TSPAN16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453204.1	NM_012466		4	19	1	0	0.00024832	0.000350478	4	19				
PLPPR2	64748	broad.mit.edu	37	19	11470311	11470311	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:11470311C>T	ENST00000251473.5	+	4	546	c.170C>T	c.(169-171)gCc>gTc	p.A57V	DKFZP761J1410_ENST00000586431.1_3'UTR|DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.A32V	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					AGTACCTACGCCAAGCCCTAC	0.602																																						uc002mre.1		NA																	0				large_intestine(1)	1						c.(169-171)GCC>GTC		lipid phosphate phosphatase-related protein type							103.0	76.0	85.0					19																	11470311		2203	4300	6503	SO:0001583	missense	64748					integral to membrane	phosphatidate phosphatase activity	g.chr19:11470311C>T																												ENST00000251473.5:c.170C>T	19.37:g.11470311C>T	ENSP00000251473:p.Ala57Val					LPPR2_uc002mrf.1_Missense_Mutation_p.A32V|LPPR2_uc010dxy.1_5'Flank	p.A57V	NM_022737	NP_073574	Q96GM1	LPPR2_HUMAN			4	507	+			57						Missense_Mutation	SNP	ENST00000251473.5	37	c.170C>T	CCDS12258.1	.	.	.	.	.	.	.	.	.	.	c	18.27	3.586232	0.66105	.	.	ENSG00000105520	ENST00000251473	T	0.43294	0.95	5.27	4.23	0.50019	.	0.361497	0.28772	N	0.014196	T	0.35770	0.0943	L	0.36672	1.1	0.43259	D	0.995198	P;B	0.44877	0.845;0.161	B;B	0.43623	0.425;0.15	T	0.05852	-1.0860	10	0.27082	T	0.32	-31.0004	12.9116	0.58182	0.0:0.9199:0.0:0.0801	.	32;57	Q96GM1-2;Q96GM1	.;LPPR2_HUMAN	V	57	ENSP00000251473:A57V	ENSP00000251473:A57V	A	+	2	0	AC024575.1	11331311	1.000000	0.71417	0.892000	0.35008	0.940000	0.58332	3.530000	0.53539	1.229000	0.43630	0.443000	0.29094	GCC		0.602	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			6	52	0	0	0	0	6	52				
ZNF625	90589	broad.mit.edu	37	19	12256755	12256756	+	Missense_Mutation	DNP	CC	CC	AA	rs370418950		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:12256755_12256756CC>AA	ENST00000355738.1	-	4	626_627	c.277_278GG>TT	c.(277-279)GGg>TTg	p.G93L	ZNF625_ENST00000455799.1_3'UTR|ZNF625-ZNF20_ENST00000430024.1_Intron|CTC-359D24.3_ENST00000472362.1_RNA|ZNF625_ENST00000439556.2_Missense_Mutation_p.G159L|ZNF625_ENST00000542938.1_Missense_Mutation_p.G93L			Q96I27	ZN625_HUMAN	zinc finger protein 625	93					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						AGGTTTCCCCCCAGTGTGAGCC	0.426																																						uc002mth.2		NA																	0					0						c.(277-279)GGG>TTG		zinc finger protein 625																																				SO:0001583	missense	90589				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12256755_12256756CC>AA	BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.277_278delinsAA	19.37:g.12256755_12256756delinsAA	ENSP00000347977:p.Gly93Leu					ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Missense_Mutation_p.G127L	p.G93L	NM_145233	NP_660276	Q96I27	ZN625_HUMAN			4	627_628	-			93					A4FU45|I3L0E9	Missense_Mutation	DNP	ENST00000355738.1	37	c.277_278GG>TT																																																																																					0.426	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233		28	97	0	0	0	0	28	97				
TECR	9524	broad.mit.edu	37	19	14674476	14674476	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:14674476A>T	ENST00000215567.5	+	4	262	c.125A>T	c.(124-126)cAg>cTg	p.Q42L	TECR_ENST00000596164.1_3'UTR|TECR_ENST00000600083.1_5'UTR|TECR_ENST00000596073.1_5'UTR|TECR_ENST00000436007.2_Missense_Mutation_p.Q57L	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	42					cellular lipid metabolic process (GO:0044255)|fatty acid elongation (GO:0030497)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|nucleus (GO:0005634)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|large_intestine(1)|ovary(1)	3						GCAGATCCGCAGTGGTACCCC	0.701																																						uc002mza.2		NA																	0					0						c.(124-126)CAG>CTG		glycoprotein, synaptic 2							24.0	28.0	26.0					19																	14674476		2203	4298	6501	SO:0001583	missense	9524				fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity	g.chr19:14674476A>T	AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797			4551	protein-coding gene	gene with protein product		610057	"""glycoprotein, synaptic 2"""	SC2, GPSN2		9653160, 12482854	Standard	NM_138501		Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000215567.5:c.125A>T	19.37:g.14674476A>T	ENSP00000215567:p.Gln42Leu					TECR_uc002mzb.2_Missense_Mutation_p.Q57L|TECR_uc010xns.1_5'UTR|TECR_uc002mzc.2_5'UTR|TECR_uc002mzd.2_Missense_Mutation_p.Q42L|TECR_uc002mze.2_5'Flank|TECR_uc002mzf.1_5'Flank	p.Q42L	NM_138501	NP_612510	Q9NZ01	TECR_HUMAN			4	252	+			42					B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	Missense_Mutation	SNP	ENST00000215567.5	37	c.125A>T	CCDS12313.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.110512	0.37242	.	.	ENSG00000099797	ENST00000215567;ENST00000436007	T;T	0.39056	1.1;1.1	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	M	0.68952	2.095	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.40079	-0.9582	10	0.62326	D	0.03	-21.5975	13.0964	0.59195	1.0:0.0:0.0:0.0	.	42;57;42	B3KM97;B3KSQ1;Q9NZ01	.;.;TECR_HUMAN	L	42;57	ENSP00000215567:Q42L;ENSP00000397206:Q57L	ENSP00000215567:Q42L	Q	+	2	0	TECR	14535476	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	3.226000	0.51254	1.992000	0.58205	0.459000	0.35465	CAG		0.701	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466000.1	NM_138501		13	41	0	0	0	0	13	41				
EMR2	30817	broad.mit.edu	37	19	14862462	14862462	+	Missense_Mutation	SNP	C	C	G	rs143659792	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:14862462C>G	ENST00000315576.3	-	16	2261	c.1810G>C	c.(1810-1812)Ggt>Cgt	p.G604R	EMR2_ENST00000594076.1_Missense_Mutation_p.G511R|EMR2_ENST00000353005.1_Missense_Mutation_p.G462R|EMR2_ENST00000594294.1_Missense_Mutation_p.G555R|EMR2_ENST00000392967.2_Missense_Mutation_p.G593R|EMR2_ENST00000346057.1_Missense_Mutation_p.G555R|EMR2_ENST00000601345.1_Missense_Mutation_p.G593R|EMR2_ENST00000392965.3_Missense_Mutation_p.G546R|EMR2_ENST00000596991.2_Missense_Mutation_p.G593R|EMR2_ENST00000392964.3_3'UTR|EMR2_ENST00000353876.1_Missense_Mutation_p.G511R|EMR2_ENST00000595839.1_Missense_Mutation_p.G462R	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	604					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TGCAAGGTACCGGCGATGATG	0.567																																						uc002mzp.1		NA																	0				lung(2)|ovary(1)|skin(1)	4						c.(1810-1812)GGT>CGT		egf-like module containing, mucin-like, hormone							85.0	70.0	75.0					19																	14862462		2203	4300	6503	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14862462C>G	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1810G>C	19.37:g.14862462C>G	ENSP00000319883:p.Gly604Arg					EMR2_uc010dzs.1_Missense_Mutation_p.G63R|EMR2_uc010xnw.1_Missense_Mutation_p.G546R|EMR2_uc002mzo.1_Missense_Mutation_p.G593R|EMR2_uc002mzq.1_Missense_Mutation_p.G544R|EMR2_uc002mzr.1_Missense_Mutation_p.G555R|EMR2_uc002mzs.1_Missense_Mutation_p.G462R|EMR2_uc002mzt.1_Missense_Mutation_p.G500R|EMR2_uc002mzu.1_Missense_Mutation_p.G511R|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA	p.G604R	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN			16	2266	-			604			Extracellular (Potential).		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.1810G>C	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153822	0.57259	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965	T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18	4.4	2.21	0.28008	GPCR, family 2-like (1);	.	.	.	.	T	0.67363	0.2885	H	0.95151	3.63	0.30913	N	0.728885	D;D;D;D;D;D;D;D	0.76494	0.963;0.999;0.999;0.999;0.998;0.998;0.998;0.998	D;D;D;D;D;D;D;D	0.81914	0.954;0.978;0.995;0.989;0.991;0.995;0.995;0.978	T	0.69624	-0.5095	9	0.87932	D	0	.	9.4924	0.38967	0.0:0.8074:0.0:0.1926	.	546;511;604;462;555;604;604;593	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	R	604;593;555;511;462;546	ENSP00000319883:G604R;ENSP00000376694:G593R;ENSP00000263380:G555R;ENSP00000319454:G511R;ENSP00000319838:G462R;ENSP00000376692:G546R	ENSP00000319883:G604R	G	-	1	0	EMR2	14723462	0.200000	0.23398	0.004000	0.12327	0.002000	0.02628	3.204000	0.51082	0.983000	0.38602	-0.287000	0.09952	GGT		0.567	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			25	43	0	0	0	0	25	43				
SLC5A5	6528	broad.mit.edu	37	19	18004623	18004623	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:18004623T>A	ENST00000222248.3	+	15	2216	c.1869T>A	c.(1867-1869)gcT>gcA	p.A623A		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	623					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGGAGGGGGCTGGCTCTTGGA	0.602																																					Melanoma(65;1008 1708 7910 46650)	uc002nhr.3		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1867-1869)GCT>GCA		solute carrier family 5 (sodium iodide							30.0	28.0	29.0					19																	18004623		2203	4300	6503	SO:0001819	synonymous_variant	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:18004623T>A		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1869T>A	19.37:g.18004623T>A							p.A623A	NM_000453	NP_000444	Q92911	SC5A5_HUMAN			15	2216	+			623			Cytoplasmic (Potential).		O43702|Q2M335|Q9NYB6	Silent	SNP	ENST00000222248.3	37	c.1869T>A	CCDS12368.1																																																																																				0.602	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			5	10	0	0	0	0	5	10				
IL12RB1	3594	broad.mit.edu	37	19	18179338	18179338	+	Splice_Site	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:18179338T>A	ENST00000600835.2	-	12	1488		c.e12-2		IL12RB1_ENST00000593993.2_Splice_Site			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1						cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						TGTAGGTTGCTGGAAGGATAA	0.537																																						uc002nhw.1		NA																	0				pancreas(1)	1						c.e11-1		interleukin 12 receptor, beta 1 isoform 1							143.0	146.0	145.0					19																	18179338		2076	4207	6283	SO:0001630	splice_region_variant	3594				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18179338T>A	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1190-2A>T	19.37:g.18179338T>A						IL12RB1_uc010xqb.1_Splice_Site_p.A397_splice|IL12RB1_uc002nhx.1_Splice_Site_p.A437_splice	p.A397_splice	NM_005535	NP_005526	P42701	I12R1_HUMAN			11	1254	-								A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Splice_Site	SNP	ENST00000600835.2	37	c.1190_splice	CCDS54232.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.118318	0.37339	.	.	ENSG00000096996	ENST00000430026	.	.	.	4.6	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6461	0.45621	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	IL12RB1	18040338	0.791000	0.28800	0.107000	0.21349	0.173000	0.22820	3.471000	0.53107	1.837000	0.53436	0.459000	0.35465	.		0.537	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3		Intron	33	197	0	0	0	0	33	197				
HOMER3	9454	broad.mit.edu	37	19	19042356	19042356	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:19042356G>T	ENST00000539827.1	-	7	1421	c.769C>A	c.(769-771)Ctg>Atg	p.L257M	HOMER3_ENST00000594439.1_Missense_Mutation_p.L221M|AC002985.3_ENST00000596918.1_3'UTR|HOMER3_ENST00000221222.11_Missense_Mutation_p.L257M|HOMER3_ENST00000392351.3_Missense_Mutation_p.L257M|HOMER3_ENST00000355887.6_Missense_Mutation_p.L257M|HOMER3_ENST00000542541.2_Missense_Mutation_p.L257M|HOMER3_ENST00000433218.2_Missense_Mutation_p.L257M|HOMER3_ENST00000594794.1_Missense_Mutation_p.L48M			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	257					G-protein coupled glutamate receptor signaling pathway (GO:0007216)|protein targeting (GO:0006605)	basal part of cell (GO:0045178)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			AGCTGTTCCAGCGACTGGCCC	0.637																																						uc002nku.2		NA																	0					0						c.(769-771)CTG>ATG		Homer, neuronal immediate early gene, 3 isoform							62.0	62.0	62.0					19																	19042356		2203	4300	6503	SO:0001583	missense	9454				metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding	g.chr19:19042356G>T	Y18894	CCDS12391.1, CCDS46022.1, CCDS46023.1	19p13.1	2008-02-05				ENSG00000051128			17514	protein-coding gene	gene with protein product		604800				10653696, 9808459	Standard	NM_004838		Approved	HOMER-3	uc002nkv.2	Q9NSC5		ENST00000539827.1:c.769C>A	19.37:g.19042356G>T	ENSP00000439937:p.Leu257Met					HOMER3_uc002nko.1_RNA|HOMER3_uc002nkp.1_RNA|HOMER3_uc010eby.2_Missense_Mutation_p.L221M|HOMER3_uc010ebz.2_Missense_Mutation_p.L257M|HOMER3_uc002nkw.2_Missense_Mutation_p.L257M|HOMER3_uc002nkv.2_Missense_Mutation_p.L257M	p.L257M	NM_004838	NP_004829	Q9NSC5	HOME3_HUMAN	Epithelial(12;0.0107)		7	1422	-			257			Potential.		E9PCW9|O14580|O95350|Q9NSB9|Q9NSC0|Q9NSC1	Missense_Mutation	SNP	ENST00000539827.1	37	c.769C>A	CCDS12391.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318767	0.60524	.	.	ENSG00000051128	ENST00000392351;ENST00000433218;ENST00000542541;ENST00000221222;ENST00000539827;ENST00000355887	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	4.66	-2.98	0.05513	.	0.173757	0.39834	N	0.001260	T	0.29652	0.0740	M	0.64997	1.995	0.23341	N	0.997877	B;D;P	0.55800	0.077;0.973;0.954	B;P;P	0.61533	0.134;0.89;0.779	T	0.11792	-1.0573	10	0.72032	D	0.01	.	4.8587	0.13571	0.3368:0.286:0.3773:0.0	.	221;257;257	E9PCW9;Q9NSC5-2;Q9NSC5	.;.;HOME3_HUMAN	M	257;257;257;221;257;257	ENSP00000376162:L257M;ENSP00000396154:L257M;ENSP00000446026:L257M;ENSP00000439937:L257M;ENSP00000348150:L257M	ENSP00000221222:L221M	L	-	1	2	HOMER3	18903356	0.127000	0.22367	0.017000	0.16124	0.158000	0.22134	0.293000	0.19029	-0.590000	0.05866	-0.266000	0.10368	CTG		0.637	HOMER3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464607.1			43	91	1	0	7.53e-24	1.4e-23	43	91				
ZNF737	100129842	broad.mit.edu	37	19	20727933	20727933	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:20727933T>A	ENST00000427401.4	-	4	1170	c.1076A>T	c.(1075-1077)cAc>cTc	p.H359L		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	359					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)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AATTATCTTGTGTGTAGTAAG	0.388																																						uc002npa.2		NA																	0				ovary(1)	1						c.(1075-1077)CAC>CTC		zinc finger protein 737							18.0	18.0	18.0					19																	20727933		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20727933T>A	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.1076A>T	19.37:g.20727933T>A	ENSP00000395733:p.His359Leu						p.H359L	NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN			4	1256	-			359					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.1076A>T	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	11.99	1.804489	0.31869	.	.	ENSG00000237440	ENST00000427401	D	0.86865	-2.18	0.801	0.801	0.18679	.	.	.	.	.	D	0.94358	0.8186	H	0.97465	4.01	0.34854	D	0.74197	D	0.89917	1.0	D	0.74674	0.984	D	0.92273	0.5827	9	0.87932	D	0	.	5.4149	0.16368	0.0:0.0:0.0:1.0	.	359	C9JHM3	.	L	359	ENSP00000395733:H359L	ENSP00000395733:H359L	H	-	2	0	ZNF737	20519773	1.000000	0.71417	0.378000	0.26068	0.378000	0.30076	5.074000	0.64401	0.147000	0.19030	0.145000	0.16022	CAC		0.388	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		20	73	0	0	0	0	20	73				
ZNF208	7757	broad.mit.edu	37	19	22154889	22154889	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:22154889T>C	ENST00000397126.4	-	4	3095	c.2947A>G	c.(2947-2949)Agt>Ggt	p.S983G	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	983					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAGAATGTACTAAAGCCTTTG	0.358																																						uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.e6-1		zinc finger protein 208							51.0	55.0	54.0					19																	22154889		2100	4239	6339	SO:0001583	missense	7757							g.chr19:22154889T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2947A>G	19.37:g.22154889T>C	ENSP00000380315:p.Ser983Gly					ZNF208_uc002nqo.1_Intron	p.N855_splice	NM_007153	NP_009084					6	2714	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Splice_Site	SNP	ENST00000397126.4	37	c.2565_splice	CCDS54240.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|t	2.877|2.877	-0.232611|-0.232611	0.05983|0.05983	.|.	.|.	ENSG00000160321|ENSG00000160321	ENST00000428290|ENST00000397126	.|T	.|0.19250	.|2.16	2.89|2.89	1.75|1.75	0.24633|0.24633	.|.	.|.	.|.	.|.	.|.	.|T	.|0.13756	.|0.0333	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.30060	.|-0.9991	.|6	.|0.29301	.|T	.|0.29	.|.	2.8696|2.8696	0.05613|0.05613	0.0:0.2602:0.2402:0.4996|0.0:0.2602:0.2402:0.4996	.|.	.|.	.|.	.|.	.|G	-1|983	.|ENSP00000380315:S983G	.|ENSP00000380315:S983G	.|S	-|-	.|1	.|0	ZNF208|ZNF208	21946729|21946729	0.005000|0.005000	0.15991|0.15991	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.011000|-0.011000	0.12721|0.12721	0.056000|0.056000	0.16144|0.16144	0.234000|0.234000	0.17832|0.17832	.|AGT		0.358	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		30	55	0	0	0	0	30	55				
ZNF536	9745	broad.mit.edu	37	19	30935396	30935396	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:30935396T>A	ENST00000355537.3	+	2	1074	c.927T>A	c.(925-927)gcT>gcA	p.A309A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	309					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACTTCGCGGCTTCGCAGGAGG	0.642																																						uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(925-927)GCT>GCA		zinc finger protein 536							79.0	88.0	85.0					19																	30935396		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935396T>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.927T>A	19.37:g.30935396T>A						ZNF536_uc010edd.1_Silent_p.A309A	p.A309A	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1065	+	Esophageal squamous(110;0.0834)		309			C2H2-type 4.		A2RU18	Silent	SNP	ENST00000355537.3	37	c.927T>A	CCDS32984.1																																																																																				0.642	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		84	116	0	0	0	0	84	116				
LSR	51599	broad.mit.edu	37	19	35757268	35757268	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:35757268C>T	ENST00000361790.3	+	6	1088	c.929C>T	c.(928-930)gCc>gTc	p.A310V	LSR_ENST00000360798.3_Missense_Mutation_p.A242V|LSR_ENST00000427250.1_Missense_Mutation_p.A154V|USF2_ENST00000595068.1_5'Flank|LSR_ENST00000602122.1_Missense_Mutation_p.A291V|AD000684.2_ENST00000602262.1_RNA|LSR_ENST00000347609.4_Missense_Mutation_p.A273V|LSR_ENST00000354900.3_Missense_Mutation_p.A291V|USF2_ENST00000222305.3_5'Flank|USF2_ENST00000594064.1_5'Flank|USF2_ENST00000343550.5_5'Flank|USF2_ENST00000379134.3_5'Flank	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	310					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)		p.A310V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACAGTGTATGCCGCCGGCAAA	0.617																																						uc002nyl.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(928-930)GCC>GTC		lipolysis stimulated lipoprotein receptor							81.0	82.0	82.0					19																	35757268		2203	4300	6503	SO:0001583	missense	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35757268C>T	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.929C>T	19.37:g.35757268C>T	ENSP00000354575:p.Ala310Val					LSR_uc002nym.2_Missense_Mutation_p.A291V|LSR_uc002nyn.2_Missense_Mutation_p.A242V|LSR_uc002nyo.2_Missense_Mutation_p.A291V|LSR_uc010xsr.1_Missense_Mutation_p.A202V|LSR_uc002nyp.2_Missense_Mutation_p.A273V|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank	p.A310V	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		6	1152	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		310			Cytoplasmic (Potential).		A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Missense_Mutation	SNP	ENST00000361790.3	37	c.929C>T	CCDS12450.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708858	0.30322	.	.	ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000360798;ENST00000347609;ENST00000427250	T;T;T;T;T	0.64438	0.49;0.64;0.29;0.31;-0.1	3.99	2.78	0.32641	.	0.138581	0.47455	D	0.000227	T	0.40448	0.1117	L	0.44542	1.39	0.28193	N	0.92769	B;B;B;P;B;B	0.35011	0.007;0.004;0.052;0.48;0.031;0.016	B;B;B;B;B;B	0.28465	0.015;0.006;0.022;0.09;0.01;0.01	T	0.28522	-1.0041	10	0.06891	T	0.86	-5.4264	4.5353	0.12026	0.2068:0.6652:0.0:0.1279	.	248;273;291;242;291;310	Q9BT33;Q86X29-2;Q86X29-3;A6NDW3;E9PHD4;Q86X29	.;.;.;.;.;LSR_HUMAN	V	310;291;242;273;154	ENSP00000354575:A310V;ENSP00000346976:A291V;ENSP00000354034:A242V;ENSP00000262627:A273V;ENSP00000394479:A154V	ENSP00000262627:A273V	A	+	2	0	LSR	40449108	0.983000	0.35010	0.413000	0.26509	0.596000	0.36781	0.971000	0.29396	0.705000	0.31890	0.462000	0.41574	GCC		0.617	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		5	174	0	0	0	0	5	174				
KIRREL2	84063	broad.mit.edu	37	19	36357267	36357267	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:36357267C>T	ENST00000360202.5	+	15	2198	c.2000C>T	c.(1999-2001)cCt>cTt	p.P667L	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Intron|KIRREL2_ENST00000347900.6_Intron|APLP1_ENST00000221891.4_5'Flank|APLP1_ENST00000537454.2_5'Flank|KIRREL2_ENST00000592409.1_Missense_Mutation_p.P632L	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	667	Pro-rich.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACACCCCACCCTCGAGCTTTC	0.612																																						uc002ocb.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1999-2001)CCT>CTT		kin of IRRE-like 2 isoform c							119.0	124.0	122.0					19																	36357267		2203	4300	6503	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36357267C>T	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.2000C>T	19.37:g.36357267C>T	ENSP00000353331:p.Pro667Leu					KIRREL2_uc002obz.3_Intron|KIRREL2_uc002oca.3_Intron|KIRREL2_uc002occ.3_Missense_Mutation_p.P614L|KIRREL2_uc002ocd.3_Missense_Mutation_p.P629L|APLP1_uc010xsz.1_5'Flank|APLP1_uc002oce.2_5'Flank|APLP1_uc002ocf.2_5'Flank|APLP1_uc002ocg.2_5'Flank	p.P667L	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		15	2212	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		667			Pro-rich.|Cytoplasmic (Potential).		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.2000C>T	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.236177	0.39498	.	.	ENSG00000126259	ENST00000360202;ENST00000341658;ENST00000270294	T	0.66815	-0.23	5.1	3.99	0.46301	.	0.314809	0.23243	N	0.050326	T	0.47173	0.1431	N	0.14661	0.345	0.58432	D	0.999999	P;P;P	0.39480	0.546;0.675;0.546	B;B;B	0.39258	0.154;0.295;0.154	T	0.41378	-0.9512	9	.	.	.	-5.9512	10.7186	0.46028	0.0:0.8071:0.1929:0.0	.	667;647;667	F1T0I2;Q6UWL6-4;Q6UWL6	.;.;KIRR2_HUMAN	L	667;647;178	ENSP00000353331:P667L	.	P	+	2	0	KIRREL2	41049107	1.000000	0.71417	0.986000	0.45419	0.841000	0.47740	1.891000	0.39738	2.369000	0.80426	0.561000	0.74099	CCT		0.612	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		77	155	0	0	0	0	77	155				
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:40367841T>G	ENST00000221347.6	-	29	13126	c.13119A>C	c.(13117-13119)gcA>gcC	p.A4373A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4373	TIL 10.					extracellular vesicular exosome (GO:0070062)		p.A4373A(2)		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)			TCGTAAGGGGTGCAGGGGACG	0.627																																						uc002omp.3		NA																	2	Substitution - coding silent(2)		lung(1)|kidney(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(13117-13119)GCA>GCC		Fc fragment of IgG binding protein precursor							17.0	32.0	27.0					19																	40367841		2132	4018	6150	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40367841T>G	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13119A>C	19.37:g.40367841T>G							p.A4373A	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		29	13127	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4373			TIL 10.		O95784	Silent	SNP	ENST00000221347.6	37	c.13119A>C	CCDS12546.1																																																																																				0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		9	27	0	0	0	0	9	27				
ZNF222	7673	broad.mit.edu	37	19	44536610	44536610	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:44536610A>G	ENST00000187879.8	+	4	945	c.783A>G	c.(781-783)atA>atG	p.I261M	ZNF222_ENST00000391960.3_Missense_Mutation_p.I301M|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				AATGTGAAATATGTGGTAAGA	0.393																																						uc002oyc.2		NA																	0				ovary(3)	3						c.(781-783)ATA>ATG		zinc finger protein 222 isoform 2							139.0	144.0	142.0					19																	44536610		2203	4300	6503	SO:0001583	missense	7673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44536610A>G	AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.783A>G	19.37:g.44536610A>G	ENSP00000187879:p.Ile261Met					ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Missense_Mutation_p.I301M|ZNF222_uc002oyd.2_Missense_Mutation_p.I207M	p.I261M	NM_013360	NP_037492	Q9UK12	ZN222_HUMAN			4	966	+		Prostate(69;0.0435)	261			C2H2-type 5.		G5E9B9|Q8N6G7|Q9P1U5	Missense_Mutation	SNP	ENST00000187879.8	37	c.783A>G	CCDS33045.1	.	.	.	.	.	.	.	.	.	.	A	12.62	1.992919	0.35131	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.13307	2.6;2.6	2.79	0.252	0.15545	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23410	0.0566	L	0.52759	1.655	0.19775	N	0.999959	P;D	0.57257	0.951;0.979	P;P	0.62649	0.847;0.905	T	0.10382	-1.0632	9	0.72032	D	0.01	.	5.61	0.17400	0.4025:0.4782:0.1192:0.0	.	301;261	G5E9B9;Q9UK12	.;ZN222_HUMAN	M	301;261;207	ENSP00000375822:I301M;ENSP00000187879:I261M	ENSP00000187879:I261M	I	+	3	3	ZNF222	49228450	0.000000	0.05858	0.013000	0.15412	0.312000	0.27988	-3.027000	0.00639	-0.123000	0.11745	0.172000	0.16884	ATA		0.393	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2			39	99	0	0	0	0	39	99				
LIG1	3978	broad.mit.edu	37	19	48620966	48620966	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:48620966G>A	ENST00000263274.7	-	26	2931	c.2512C>T	c.(2512-2514)Ccc>Tcc	p.P838S	LIG1_ENST00000536218.1_Missense_Mutation_p.P770S|CTC-453G23.5_ENST00000596839.1_RNA|CTC-453G23.5_ENST00000596563.1_RNA|LIG1_ENST00000427526.2_Missense_Mutation_p.P807S	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	838					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	ACAGCGCTGGGGTCCAGCCAG	0.662								Nucleotide excision repair (NER)																														uc002pia.1		NA																	0				large_intestine(2)|lung(1)	3						c.(2512-2514)CCC>TCC	NER	DNA ligase I	Bleomycin(DB00290)						37.0	31.0	33.0					19																	48620966		2203	4300	6503	SO:0001583	missense	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48620966G>A		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.2512C>T	19.37:g.48620966G>A	ENSP00000263274:p.Pro838Ser					LIG1_uc010xze.1_Missense_Mutation_p.P531S|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.P770S|LIG1_uc010xzg.1_Missense_Mutation_p.P807S	p.P838S	NM_000234	NP_000225	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	26	2632	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	838					B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	c.2512C>T	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144475	0.77888	.	.	ENSG00000105486	ENST00000263274;ENST00000427526;ENST00000536218	D;D;D	0.86694	-2.16;-2.16;-2.16	4.71	3.59	0.41128	DNA ligase, ATP-dependent, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.231805	0.35805	N	0.002963	D	0.94512	0.8233	H	0.94771	3.58	0.80722	D	1	D;D;D	0.76494	0.985;0.961;0.999	P;P;D	0.73380	0.886;0.748;0.98	D	0.95111	0.8238	10	0.66056	D	0.02	-22.2142	12.344	0.55109	0.0:0.1715:0.8285:0.0	.	807;770;838	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	S	838;807;770	ENSP00000263274:P838S;ENSP00000442841:P807S;ENSP00000441531:P770S	ENSP00000263274:P838S	P	-	1	0	LIG1	53312778	0.996000	0.38824	1.000000	0.80357	0.990000	0.78478	2.514000	0.45503	2.334000	0.79466	0.561000	0.74099	CCC		0.662	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		12	26	0	0	0	0	12	26				
HRC	3270	broad.mit.edu	37	19	49658346	49658346	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:49658346G>T	ENST00000252825.4	-	1	335	c.149C>A	c.(148-150)tCc>tAc	p.S50Y	TRPM4_ENST00000252826.5_5'Flank|TRPM4_ENST00000355712.5_5'Flank|HRC_ENST00000595625.1_Missense_Mutation_p.S50Y|TRPM4_ENST00000427978.2_5'Flank	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	50					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TGCCTCCTCGGAGAGCCCGGC	0.602																																					Melanoma(37;75 1097 24567 25669 30645)	uc002pmv.2		NA																	0				ovary(1)	1						c.(148-150)TCC>TAC		histidine rich calcium binding protein							146.0	131.0	136.0					19																	49658346		2203	4300	6503	SO:0001583	missense	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49658346G>T		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.149C>A	19.37:g.49658346G>T	ENSP00000252825:p.Ser50Tyr					TRPM4_uc002pmw.2_5'Flank|TRPM4_uc010emu.2_5'Flank|TRPM4_uc010yak.1_5'Flank|TRPM4_uc002pmx.2_5'Flank|TRPM4_uc010emv.2_5'Flank|TRPM4_uc010yal.1_5'Flank	p.S50Y	NM_002152	NP_002143	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	336	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	50					Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	c.149C>A	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466950	0.26335	.	.	ENSG00000130528	ENST00000252825	T	0.07327	3.2	3.26	1.05	0.20165	.	.	.	.	.	T	0.09247	0.0228	L	0.59436	1.845	0.09310	N	1	B	0.19935	0.04	B	0.18871	0.023	T	0.28522	-1.0041	9	0.72032	D	0.01	0.1506	5.7147	0.17954	0.1129:0.3837:0.5034:0.0	.	50	P23327	SRCH_HUMAN	Y	50	ENSP00000252825:S50Y	ENSP00000252825:S50Y	S	-	2	0	HRC	54350158	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.039000	0.30266	0.375000	0.24679	-0.224000	0.12420	TCC		0.602	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		19	93	1	0	2.32e-17	4.19e-17	19	93				
LRRC4B	94030	broad.mit.edu	37	19	51022385	51022385	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:51022385C>A	ENST00000599957.1	-	3	782	c.585G>T	c.(583-585)ctG>ctT	p.L195L	LRRC4B_ENST00000389201.3_Silent_p.L195L			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	195					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		AGATGTATTCCAGCCGCTTGA	0.652																																						uc002pss.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(583-585)CTG>CTT		leucine rich repeat containing 4B precursor							35.0	43.0	40.0					19																	51022385		2183	4285	6468	SO:0001819	synonymous_variant	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51022385C>A	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.585G>T	19.37:g.51022385C>A							p.L195L	NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	722	-		all_neural(266;0.131)	195			LRR 5.|Extracellular (Potential).		Q3ZCQ4|Q58F20	Silent	SNP	ENST00000599957.1	37	c.585G>T	CCDS42595.1																																																																																				0.652	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		9	28	1	0	2.18e-05	3.19e-05	9	28				
ZNF616	90317	broad.mit.edu	37	19	52619407	52619407	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:52619407C>A	ENST00000600228.1	-	4	1271	c.1010G>T	c.(1009-1011)aGc>aTc	p.S337I	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GAGGTTTGAGCTCCGTTTAAA	0.398																																						uc002pym.2		NA																	0					0						c.(1009-1011)AGC>ATC		zinc finger protein 616							156.0	147.0	150.0					19																	52619407		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52619407C>A	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1010G>T	19.37:g.52619407C>A	ENSP00000471000:p.Ser337Ile					ZNF616_uc002pyn.2_RNA	p.S337I	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	1293	-			337			C2H2-type 6.		B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.1010G>T	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.583457	0.28268	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.08	1.08	0.20341	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19087	0.0458	L	0.31578	0.945	0.09310	N	1	P	0.36162	0.54	B	0.26770	0.073	T	0.10894	-1.0610	8	0.33141	T	0.24	.	4.9454	0.13987	0.0:0.7874:0.0:0.2126	.	337	Q08AN1	ZN616_HUMAN	I	337	.	ENSP00000328722:S337I	S	-	2	0	ZNF616	57311219	0.000000	0.05858	0.001000	0.08648	0.834000	0.47266	-4.832000	0.00180	0.883000	0.36040	0.305000	0.20034	AGC		0.398	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		32	120	1	0	6.51e-10	1.07e-09	32	120				
VN1R2	317701	broad.mit.edu	37	19	53761833	53761833	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:53761833G>C	ENST00000341702.3	+	1	289	c.205G>C	c.(205-207)Gtg>Ctg	p.V69L		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	69					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		tctttgtcttgtgtctttatt	0.512																																						uc002qbi.2		NA																	0					0						c.(205-207)GTG>CTG		vomeronasal 1 receptor 2							25.0	25.0	25.0					19																	53761833		2182	4249	6431	SO:0001583	missense	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53761833G>C	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.205G>C	19.37:g.53761833G>C	ENSP00000351244:p.Val69Leu						p.V69L	NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	289	+			69			Helical; Name=1; (Potential).		A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	c.205G>C	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	G	7.628	0.678336	0.14841	.	.	ENSG00000196131	ENST00000341702	T	0.09630	2.96	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.06600	0.0169	N	0.08118	0	0.20563	N	0.999887	P	0.38711	0.643	B	0.43360	0.417	T	0.36915	-0.9728	9	0.48119	T	0.1	.	5.9248	0.19104	7.0E-4:0.0:0.9993:0.0	.	69	Q8NFZ6	VN1R2_HUMAN	L	69	ENSP00000351244:V69L	ENSP00000351244:V69L	V	+	1	0	VN1R2	58453645	0.932000	0.31603	0.148000	0.22405	0.148000	0.21650	1.234000	0.32660	0.132000	0.18615	0.134000	0.15878	GTG		0.512	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		4	7	0	0	0	0	4	7				
NLRP12	91662	broad.mit.edu	37	19	54313795	54313795	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:54313795T>A	ENST00000324134.6	-	3	1286	c.1118A>T	c.(1117-1119)tAc>tTc	p.Y373F	NLRP12_ENST00000535162.1_Missense_Mutation_p.Y373F|NLRP12_ENST00000354278.3_Missense_Mutation_p.Y373F|NLRP12_ENST00000391772.1_Missense_Mutation_p.Y373F|NLRP12_ENST00000391775.3_Missense_Mutation_p.Y373F|NLRP12_ENST00000345770.5_Missense_Mutation_p.Y373F|NLRP12_ENST00000351894.4_Missense_Mutation_p.Y373F|NLRP12_ENST00000391773.1_Missense_Mutation_p.Y373F	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	373	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTTGTAGAAGTATTCCTTCCT	0.557																																						uc002qch.3		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(1117-1119)TAC>TTC		NLR family, pyrin domain containing 12 isoform							187.0	191.0	190.0					19																	54313795		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313795T>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1118A>T	19.37:g.54313795T>A	ENSP00000319377:p.Tyr373Phe					NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.Y373F|NLRP12_uc002qcj.3_Missense_Mutation_p.Y373F|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.Y373F	p.Y373F	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	1338	-	Ovarian(34;0.19)		373			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.1118A>T	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.055160	0.55325	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	4.64	3.59	0.41128	NACHT nucleoside triphosphatase (1);	0.000000	0.39083	N	0.001470	T	0.79598	0.4473	M	0.81614	2.55	0.80722	D	1	B;B;B;B	0.29162	0.117;0.142;0.235;0.174	B;B;B;B	0.29716	0.066;0.072;0.103;0.106	T	0.76618	-0.2893	10	0.59425	D	0.04	.	8.9073	0.35532	0.1673:0.0:0.0:0.8327	.	373;373;373;373	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	F	373	ENSP00000319377:Y373F;ENSP00000438030:Y373F;ENSP00000340473:Y373F;ENSP00000346231:Y373F;ENSP00000375655:Y373F;ENSP00000375653:Y373F;ENSP00000375652:Y373F	ENSP00000319377:Y373F	Y	-	2	0	NLRP12	59005607	1.000000	0.71417	0.014000	0.15608	0.536000	0.34869	3.299000	0.51826	0.712000	0.32039	0.397000	0.26171	TAC		0.557	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		79	225	0	0	0	0	79	225				
KIR3DL2	3812	broad.mit.edu	37	19	55377864	55377864	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:55377864C>A	ENST00000326321.3	+	8	1178	c.1145C>A	c.(1144-1146)aCa>aAa	p.T382K	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.T382K|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.T365K|RNU6-222P_ENST00000362438.1_RNA	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	382					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GGGGACAGAACAGTGAATAGG	0.532																																						uc002qhl.3		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5						c.(1144-1146)ACA>AAA		SubName: Full=KIR3DS1;							138.0	141.0	140.0					19																	55377864		2203	4300	6503	SO:0001583	missense	3811				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	g.chr19:55377864C>A	L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.1145C>A	19.37:g.55377864C>A	ENSP00000325525:p.Thr382Lys					KIR3DL2_uc010esh.2_Missense_Mutation_p.T365K|KIR3DL2_uc002qho.3_Missense_Mutation_p.T382K	p.T382K			P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	8	1208	+			382			Cytoplasmic (Potential).		Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Missense_Mutation	SNP	ENST00000326321.3	37	c.1145C>A	CCDS12906.1	.	.	.	.	.	.	.	.	.	.	C	9.380	1.072869	0.20147	.	.	ENSG00000167633;ENSG00000240403;ENSG00000240403	ENST00000402254;ENST00000326321;ENST00000270442	T;T;T	0.00477	7.23;7.21;7.14	1.05	-2.11	0.07187	.	.	.	.	.	T	0.01222	0.0040	M	0.91300	3.195	0.09310	N	1	P;P;D	0.69078	0.588;0.745;0.997	B;B;D	0.69142	0.339;0.231;0.962	T	0.40232	-0.9574	9	0.87932	D	0	.	1.6945	0.02859	0.2905:0.3432:0.0:0.3663	.	365;382;382	Q95366;P43630;F6QF33	.;KI3L2_HUMAN;.	K	382;382;365	ENSP00000384528:T382K;ENSP00000325525:T382K;ENSP00000270442:T365K	ENSP00000384528:T382K	T	+	2	0	KIR3DL1;KIR3DL2	60069676	0.001000	0.12720	0.000000	0.03702	0.019000	0.09904	-1.310000	0.02725	-0.897000	0.03910	0.393000	0.25936	ACA		0.532	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1			25	123	1	0	1.85e-09	3.01e-09	25	123				
NLRP11	204801	broad.mit.edu	37	19	56300307	56300307	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:56300307T>A	ENST00000589093.1	-	9	2814	c.2721A>T	c.(2719-2721)cgA>cgT	p.R907R	NLRP11_ENST00000592953.1_Silent_p.R808R|NLRP11_ENST00000589824.2_Silent_p.R853R|NLRP11_ENST00000360133.3_Silent_p.R853R|NLRP11_ENST00000443188.1_Silent_p.R907R			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	907							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AGGCAAGAGATCGACAGCAGG	0.458																																						uc010ygf.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(2719-2721)CGA>CGT		NLR family, pyrin domain containing 11							135.0	118.0	124.0					19																	56300307		2203	4300	6503	SO:0001819	synonymous_variant	204801						ATP binding	g.chr19:56300307T>A	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2721A>T	19.37:g.56300307T>A						NLRP11_uc002qlz.2_Silent_p.R754R|NLRP11_uc002qmb.2_Silent_p.R808R|NLRP11_uc002qmc.2_RNA	p.R907R	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	11	3432	-		Colorectal(82;0.0002)	907					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	ENST00000589093.1	37	c.2721A>T	CCDS12935.1																																																																																				0.458	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		14	36	0	0	0	0	14	36				
ZFP28	140612	broad.mit.edu	37	19	57066324	57066324	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:57066324A>G	ENST00000301318.3	+	8	2241	c.2170A>G	c.(2170-2172)Act>Gct	p.T724A	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	724					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AAGACTGCACACTGGCCAAAG	0.413																																					Ovarian(124;554 1662 19430 21141 52494)	uc002qnj.2		NA																	0				ovary(1)	1						c.(2170-2172)ACT>GCT		zinc finger protein 28							111.0	109.0	110.0					19																	57066324		2203	4300	6503	SO:0001583	missense	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57066324A>G		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.2170A>G	19.37:g.57066324A>G	ENSP00000301318:p.Thr724Ala					uc002qnk.1_Intron	p.T724A	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	8	2241	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	724					A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	c.2170A>G	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	A	16.96	3.266480	0.59540	.	.	ENSG00000196867	ENST00000301318	T	0.26518	1.73	4.01	4.01	0.46588	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47455	D	0.000227	T	0.43700	0.1259	L	0.52905	1.665	0.80722	D	1	D	0.55385	0.971	D	0.71656	0.974	T	0.37407	-0.9707	10	0.62326	D	0.03	.	12.3343	0.55058	1.0:0.0:0.0:0.0	.	724	Q8NHY6	ZFP28_HUMAN	A	724	ENSP00000301318:T724A	ENSP00000301318:T724A	T	+	1	0	ZFP28	61758136	0.838000	0.29461	1.000000	0.80357	0.993000	0.82548	0.955000	0.29188	1.812000	0.52913	0.459000	0.35465	ACT		0.413	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		19	59	0	0	0	0	19	59				
ZNF530	348327	broad.mit.edu	37	19	58118332	58118332	+	Missense_Mutation	SNP	G	G	C	rs543043621		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:58118332G>C	ENST00000332854.6	+	3	1659	c.1439G>C	c.(1438-1440)cGa>cCa	p.R480P	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	480					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GACCTCATTCGACACCAGACA	0.438																																						uc002qpk.2		NA																	0					0						c.(1438-1440)CGA>CCA		zinc finger protein 530							71.0	66.0	68.0					19																	58118332		2203	4300	6503	SO:0001583	missense	348327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58118332G>C	AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.1439G>C	19.37:g.58118332G>C	ENSP00000332861:p.Arg480Pro					ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA	p.R480P	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1659	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)	480			C2H2-type 9.		O43340|Q9P220	Missense_Mutation	SNP	ENST00000332854.6	37	c.1439G>C	CCDS12955.1	.	.	.	.	.	.	.	.	.	.	G	8.085	0.773181	0.16051	.	.	ENSG00000183647	ENST00000332854	T	0.07567	3.18	2.53	-5.05	0.02955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20820	0.0501	M	0.87097	2.86	0.09310	N	1	D	0.62365	0.991	P	0.59825	0.864	T	0.00715	-1.1597	9	0.33141	T	0.24	.	6.6239	0.22818	0.19:0.2481:0.562:0.0	.	480	Q6P9A1	ZN530_HUMAN	P	480	ENSP00000332861:R480P	ENSP00000332861:R480P	R	+	2	0	ZNF530	62810144	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.417000	0.00124	-1.708000	0.01401	-0.888000	0.02935	CGA		0.438	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880		35	33	0	0	0	0	35	33				
ZNF587	84914	broad.mit.edu	37	19	58370975	58370975	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr19:58370975C>T	ENST00000339656.5	+	3	1377	c.1195C>T	c.(1195-1197)Cag>Tag	p.Q399*	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000423137.1_Nonsense_Mutation_p.Q398*|ZNF814_ENST00000597652.1_5'Flank|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000419854.1_Nonsense_Mutation_p.Q356*	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	399					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		CGTTCACCATCAGCGAGGTCA	0.473																																					Pancreas(59;641 1233 1885 20055 50741)	uc002qql.2		NA																	0					0						c.(1195-1197)CAG>TAG		zinc finger protein 587							173.0	163.0	166.0					19																	58370975		2203	4300	6503	SO:0001587	stop_gained	84914				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58370975C>T	AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.1195C>T	19.37:g.58370975C>T	ENSP00000345479:p.Gln399*					ZNF587_uc002qqb.2_Nonsense_Mutation_p.Q356*|ZNF587_uc010yhh.1_Nonsense_Mutation_p.Q356*|ZNF587_uc002qqi.1_Nonsense_Mutation_p.Q356*|ZNF587_uc002qqj.1_RNA|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.1_Nonsense_Mutation_p.Q398*	p.Q399*	NM_032828	NP_116217	Q96SQ5	ZN587_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)	3	1333	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	399			C2H2-type 7.		A0AV72|G3V0H5|Q6ZMK8	Nonsense_Mutation	SNP	ENST00000339656.5	37	c.1195C>T	CCDS12964.1	.	.	.	.	.	.	.	.	.	.	.	17.68	3.448402	0.63178	.	.	ENSG00000198466	ENST00000376209;ENST00000423137;ENST00000339656;ENST00000540851;ENST00000419854	.	.	.	1.76	-1.56	0.08532	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	3.5641	0.07893	0.1878:0.5454:0.0:0.2668	.	.	.	.	X	356;398;399;399;356	.	ENSP00000345479:Q399X	Q	+	1	0	ZNF587	63062787	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	-1.030000	0.03581	-0.496000	0.06650	0.195000	0.17529	CAG		0.473	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828		66	97	0	0	0	0	66	97				
MSGN1	343930	broad.mit.edu	37	2	17998364	17998364	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:17998364G>A	ENST00000281047.3	+	1	602	c.579G>A	c.(577-579)gcG>gcA	p.A193A		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	193					cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCCAGAGCGCGTGAGCTCCAT	0.542																																					Melanoma(127;325 1712 14802 40657 49130)	uc010yjt.1		NA																	0				ovary(1)	1						c.(577-579)GCG>GCA		mesogenin 1							26.0	27.0	27.0					2																	17998364		1990	4169	6159	SO:0001819	synonymous_variant	343930				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:17998364G>A		CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"""paraxial mesogenin"""	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.579G>A	2.37:g.17998364G>A							p.A193A	NM_001105569	NP_001099039	A6NI15	MSGN1_HUMAN			1	579	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		193						Silent	SNP	ENST00000281047.3	37	c.579G>A	CCDS42657.1																																																																																				0.542	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353253.1	XM_292850		24	21	0	0	0	0	24	21				
ASXL2	55252	broad.mit.edu	37	2	26101041	26101041	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:26101041G>T	ENST00000435504.4	-	1	344	c.51C>A	c.(49-51)gcC>gcA	p.A17A	ASXL2_ENST00000336112.4_5'UTR|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	17					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTACCGTCTTGGCGGCCTCCG	0.667																																						uc002rgs.2		NA																	0				pancreas(1)	1						c.(49-51)GCC>GCA		additional sex combs like 2							88.0	99.0	95.0					2																	26101041		1918	4129	6047	SO:0001819	synonymous_variant	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:26101041G>T			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.51C>A	2.37:g.26101041G>T							p.A17A	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN			1	272	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		17					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Silent	SNP	ENST00000435504.4	37	c.51C>A																																																																																					0.667	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		7	146	1	0	1.11e-12	1.89e-12	7	146				
RASGRP3	25780	broad.mit.edu	37	2	33740206	33740206	+	Start_Codon_SNP	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:33740206G>C	ENST00000403687.3	+	3	743	c.3G>C	c.(1-3)atG>atC	p.M1I	RASGRP3_ENST00000407811.1_Start_Codon_SNP_p.M1I|RASGRP3_ENST00000402538.3_Start_Codon_SNP_p.M1I	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	1					MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					AAATAACCATGGGATCAAGTG	0.428																																						uc002rox.2		NA																	0				lung(3)|ovary(1)|pancreas(1)	5						c.(1-3)ATG>ATC		RAS guanyl releasing protein 3 (calcium and							212.0	205.0	207.0					2																	33740206		2018	4188	6206	SO:0001582	initiator_codon_variant	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33740206G>C	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.3G>C	2.37:g.33740206G>C	ENSP00000384192:p.Met1Ile					RASGRP3_uc010ync.1_Missense_Mutation_p.M1I|RASGRP3_uc002roy.2_Missense_Mutation_p.M1I	p.M1I	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN			4	630	+	all_hematologic(175;0.115)		1					D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	c.3G>C	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195610	0.78902	.	.	ENSG00000152689	ENST00000402538;ENST00000437184;ENST00000403687;ENST00000442390;ENST00000425210;ENST00000444784;ENST00000423159;ENST00000407811	T;T;T;T;T;T;T	0.76968	-1.06;1.55;-1.06;0.84;0.91;0.91;-1.06	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.88142	0.6357	.	.	.	0.80722	D	1	D;D	0.54964	0.969;0.969	D;D	0.63381	0.914;0.914	D	0.88566	0.3126	9	0.72032	D	0.01	-22.3304	19.9598	0.97242	0.0:0.0:1.0:0.0	.	1;1	D6W583;Q8IV61	.;GRP3_HUMAN	I	1	ENSP00000385886:M1I;ENSP00000393866:M1I;ENSP00000384192:M1I;ENSP00000405648:M1I;ENSP00000400602:M1I;ENSP00000388139:M1I;ENSP00000383917:M1I	ENSP00000385886:M1I	M	+	3	0	RASGRP3	33593710	1.000000	0.71417	1.000000	0.80357	0.484000	0.33280	8.770000	0.91746	2.716000	0.92895	0.655000	0.94253	ATG		0.428	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376	Missense_Mutation	20	89	0	0	0	0	20	89				
CRIM1	51232	broad.mit.edu	37	2	36583743	36583743	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:36583743A>G	ENST00000280527.2	+	1	675	c.308A>G	c.(307-309)gAg>gGg	p.E103G	RP11-490M8.1_ENST00000565283.1_lincRNA	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	103	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TCCCTCACCGAGTACGAAGCG	0.687																																						uc002rpd.2		NA																	0				ovary(2)|skin(1)	3						c.(307-309)GAG>GGG		cysteine-rich motor neuron 1 precursor							24.0	27.0	26.0					2																	36583743		2200	4296	6496	SO:0001583	missense	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36583743A>G	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.308A>G	2.37:g.36583743A>G	ENSP00000280527:p.Glu103Gly						p.E103G	NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN			1	347	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	103			IGFBP N-terminal.|Extracellular (Potential).		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	c.308A>G	CCDS1783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.74|13.74	2.328162|2.328162	0.41197|0.41197	.|.	.|.	ENSG00000150938|ENSG00000150938	ENST00000280527;ENST00000426856|ENST00000428774	T;T|.	0.62941|.	-0.01;-0.01|.	3.47|3.47	3.47|3.47	0.39725|0.39725	Insulin-like growth factor-binding protein, IGFBP (2);|.	0.071913|.	0.52532|.	D|.	0.000063|.	T|T	0.37019|0.37019	0.0988|0.0988	N|N	0.12182|0.12182	0.205|0.205	0.35944|0.35944	D|D	0.833446|0.833446	B|.	0.26400|.	0.148|.	B|.	0.21917|.	0.037|.	T|T	0.41928|0.41928	-0.9481|-0.9481	10|5	0.33940|.	T|.	0.23|.	-0.9861|-0.9861	11.1526|11.1526	0.48469|0.48469	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	103|.	Q9NZV1|.	CRIM1_HUMAN|.	G|G	103;53|44	ENSP00000280527:E103G;ENSP00000407636:E53G|.	ENSP00000280527:E103G|.	E|S	+|+	2|1	0|0	CRIM1|CRIM1	36437247|36437247	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.714000|6.714000	0.74692|0.74692	1.369000|1.369000	0.46134|0.46134	0.524000|0.524000	0.50904|0.50904	GAG|AGT		0.687	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		11	53	0	0	0	0	11	53				
HEATR5B	54497	broad.mit.edu	37	2	37235842	37235842	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:37235842T>C	ENST00000233099.5	-	28	4529	c.4434A>G	c.(4432-4434)ccA>ccG	p.P1478P	HEATR5B_ENST00000354531.2_Silent_p.P1478P	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1478						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GACTGAGTGTTGGTAGTTCAG	0.413																																						uc002rpp.1		NA																	0				ovary(5)|skin(2)|breast(1)	8						c.(4432-4434)CCA>CCG		HEAT repeat containing 5B							234.0	196.0	209.0					2																	37235842		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37235842T>C	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.4434A>G	2.37:g.37235842T>C						HEATR5B_uc010ezy.1_Silent_p.P62P|HEATR5B_uc002rpq.3_Silent_p.P62P	p.P1478P	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			28	4530	-		all_hematologic(82;0.21)	1478					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.4434A>G	CCDS33181.1																																																																																				0.413	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		12	79	0	0	0	0	12	79				
EPAS1	2034	broad.mit.edu	37	2	46607729	46607729	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:46607729C>T	ENST00000263734.3	+	12	2428	c.1918C>T	c.(1918-1920)Ccc>Tcc	p.P640S		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	640					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TACCCAGTGGCCCCCAGATCC	0.617																																						uc002ruv.2		NA																	0				ovary(1)|skin(1)	2						c.(1918-1920)CCC>TCC		endothelial PAS domain protein 1							56.0	68.0	64.0					2																	46607729		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46607729C>T	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1918C>T	2.37:g.46607729C>T	ENSP00000263734:p.Pro640Ser					EPAS1_uc002ruw.2_Missense_Mutation_p.P106S	p.P640S	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		12	2406	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	640					Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.1918C>T	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409426	0.83340	.	.	ENSG00000116016	ENST00000263734	T	0.57436	0.4	5.18	4.3	0.51218	.	0.311546	0.34853	N	0.003625	T	0.52996	0.1769	L	0.27053	0.805	0.80722	D	1	D	0.65815	0.995	P	0.59761	0.863	T	0.45205	-0.9277	10	0.27082	T	0.32	.	13.1179	0.59309	0.0:0.9233:0.0:0.0767	.	640	Q99814	EPAS1_HUMAN	S	640	ENSP00000263734:P640S	ENSP00000263734:P640S	P	+	1	0	EPAS1	46461233	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.765000	0.68834	2.426000	0.82243	0.585000	0.79938	CCC		0.617	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		52	100	0	0	0	0	52	100				
GTF2A1L	11036	broad.mit.edu	37	2	48874155	48874155	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:48874155C>T	ENST00000403751.3	+	6	989	c.952C>T	c.(952-954)Ccc>Tcc	p.P318S	STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P1022S|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P1022S|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P975S|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P1022S|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P1022S|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.P284S	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	318					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TATAGAGGAACCCAGCAACAT	0.413																																						uc010yol.1		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(2923-2925)CCC>TCC		stonin 1							25.0	25.0	25.0					2																	48874155		2200	4295	6495	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48874155C>T	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.952C>T	2.37:g.48874155C>T	ENSP00000384597:p.Pro318Ser					STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.P1022S|GTF2A1L_uc002rws.1_Missense_Mutation_p.P318S|GTF2A1L_uc010yom.1_Missense_Mutation_p.P284S|GTF2A1L_uc002rwt.2_Missense_Mutation_p.P318S	p.P975S	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		5	2970	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	975					B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	c.2923C>T	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	C	7.918	0.737949	0.15574	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000437125;ENST00000430487;ENST00000403751	T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	4.8	-1.98	0.07480	.	0.820850	0.10759	N	0.637464	T	0.56001	0.1956	M	0.76002	2.32	0.20563	N	0.999887	D;B;B;D;B	0.89917	1.0;0.011;0.021;0.999;0.024	D;B;B;D;B	0.87578	0.998;0.008;0.056;0.979;0.029	T	0.47649	-0.9101	10	0.72032	D	0.01	.	3.7063	0.08401	0.2697:0.2509:0.3963:0.083	.	284;975;1022;318;1022	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	S	1022;1022;1022;1022;975;317;327;284;318	ENSP00000385499:P1022S;ENSP00000385701:P1022S;ENSP00000378236:P1022S;ENSP00000311493:P1022S;ENSP00000378234:P975S;ENSP00000396702:P327S;ENSP00000387896:P284S;ENSP00000384597:P318S	ENSP00000384597:P318S	P	+	1	0	STON1-GTF2A1L;GTF2A1L	48727659	0.002000	0.14202	0.008000	0.14137	0.031000	0.12232	0.198000	0.17217	-0.672000	0.05266	-1.057000	0.02308	CCC		0.413	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		7	25	0	0	0	0	7	25				
FSHR	2492	broad.mit.edu	37	2	49190015	49190015	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:49190015T>A	ENST00000406846.2	-	10	2064	c.1945A>T	c.(1945-1947)Atg>Ttg	p.M649L	FSHR_ENST00000541117.1_Missense_Mutation_p.M385L|FSHR_ENST00000304421.4_Missense_Mutation_p.M623L|FSHR_ENST00000346173.3_Missense_Mutation_p.M587L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	649					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TGGGCTTGCATTTCATAGCAG	0.483									Gonadal Dysgenesis, 46 XX																													uc002rww.2		NA																	0				ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(1945-1947)ATG>TTG		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						95.0	93.0	94.0					2																	49190015		2203	4300	6503	SO:0001583	missense	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190015T>A		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1945A>T	2.37:g.49190015T>A	ENSP00000384708:p.Met649Leu					FSHR_uc002rwx.2_Missense_Mutation_p.M587L|FSHR_uc010fbn.2_Missense_Mutation_p.M623L	p.M649L	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	2019	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	649			Cytoplasmic (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.1945A>T	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	T	1.886	-0.456669	0.04540	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.35	1.6	0.23607	.	0.599483	0.18806	N	0.130650	T	0.33702	0.0872	M	0.70595	2.14	0.23791	N	0.996837	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.12156	0.002;0.007;0.002	T	0.25882	-1.0119	9	.	.	.	.	8.3024	0.32023	0.0:0.2985:0.0:0.7014	.	623;587;649	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	L	649;587;623;385	ENSP00000384708:M649L;ENSP00000333908:M587L;ENSP00000306780:M623L;ENSP00000444172:M385L	.	M	-	1	0	FSHR	49043519	1.000000	0.71417	0.788000	0.31933	0.959000	0.62525	2.281000	0.43452	0.187000	0.20147	0.533000	0.62120	ATG		0.483	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			13	40	0	0	0	0	13	40				
NRXN1	9378	broad.mit.edu	37	2	50724827	50724827	+	Missense_Mutation	SNP	C	C	A	rs201415164		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:50724827C>A	ENST00000406316.2	-	14	3999	c.2523G>T	c.(2521-2523)agG>agT	p.R841S	NRXN1_ENST00000405472.3_Missense_Mutation_p.R833S|NRXN1_ENST00000404971.1_Missense_Mutation_p.R881S|NRXN1_ENST00000406859.3_Missense_Mutation_p.R841S|NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000402717.3_Missense_Mutation_p.R833S|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.R841S	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	841	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGAACTCCAGCCTAGTATGAT	0.388																																						uc010fbq.2		NA																	0				ovary(2)	2						c.(2641-2643)AGG>AGT		neurexin 1 isoform alpha2 precursor							82.0	76.0	78.0					2																	50724827		1908	4119	6027	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50724827C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2523G>T	2.37:g.50724827C>A	ENSP00000384311:p.Arg841Ser					NRXN1_uc002rxb.3_Missense_Mutation_p.R513S|NRXN1_uc002rxe.3_Missense_Mutation_p.R841S|NRXN1_uc002rxc.1_RNA	p.R881S	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		14	4120	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2643G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555222	0.65425	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.97	1.25	0.21368	.	0.048266	0.85682	D	0.000000	T	0.73776	0.3630	L	0.46614	1.455	0.26790	N	0.969417	D;D;D	0.61080	0.979;0.989;0.966	P;P;B	0.51999	0.673;0.687;0.349	T	0.65857	-0.6066	10	0.17832	T	0.49	.	9.9164	0.41436	0.0:0.5413:0.0:0.4587	.	881;841;833	Q9ULB1-3;F8WB18;A7E294	.;.;.	S	881;841;833;841;882;833;841	ENSP00000385142:R881S;ENSP00000384311:R841S;ENSP00000434015:R833S;ENSP00000385017:R841S;ENSP00000385434:R833S;ENSP00000385681:R841S	ENSP00000385017:R841S	R	-	3	2	NRXN1	50578331	0.920000	0.31207	0.992000	0.48379	0.861000	0.49209	0.070000	0.14573	-0.043000	0.13513	-0.224000	0.12420	AGG		0.388	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			12	46	1	0	7.93e-07	1.21e-06	12	46				
PSME4	23198	broad.mit.edu	37	2	54137242	54137242	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:54137242C>A	ENST00000404125.1	-	21	2597	c.2542G>T	c.(2542-2544)Gag>Tag	p.E848*	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	848					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)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|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)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AACTTTGTCTCTTCCAAGGAC	0.333																																						uc002rxp.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(2542-2544)GAG>TAG		proteasome (prosome, macropain) activator							169.0	175.0	173.0					2																	54137242		2203	4300	6503	SO:0001587	stop_gained	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54137242C>A	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2542G>T	2.37:g.54137242C>A	ENSP00000384211:p.Glu848*					PSME4_uc010yop.1_Nonsense_Mutation_p.E734*|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Nonsense_Mutation_p.E223*|PSME4_uc010fbv.1_Intron	p.E848*	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		21	2598	-			848					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Nonsense_Mutation	SNP	ENST00000404125.1	37	c.2542G>T	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	C	41	8.661536	0.98905	.	.	ENSG00000068878	ENST00000404125	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	19.6223	0.95663	0.0:1.0:0.0:0.0	.	.	.	.	X	848	.	ENSP00000384211:E848X	E	-	1	0	PSME4	53990746	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.290000	0.78711	2.707000	0.92482	0.655000	0.94253	GAG		0.333	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		91	105	1	0	1.09e-41	2.09e-41	91	105				
ARHGAP25	9938	broad.mit.edu	37	2	69043495	69043495	+	Splice_Site	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:69043495G>T	ENST00000295381.3	+	7	1297		c.e7+1		ARHGAP25_ENST00000409030.3_Splice_Site|ARHGAP25_ENST00000409220.1_Splice_Site|ARHGAP25_ENST00000479844.1_5'Flank|ARHGAP25_ENST00000467265.1_Splice_Site|ARHGAP25_ENST00000497079.1_Splice_Site|ARHGAP25_ENST00000409202.3_Splice_Site	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						ACATCTGCAGGTGAGAGGCCC	0.488																																						uc002seu.2		NA																	0				ovary(2)|breast(2)	4						c.e7+1		Rho GTPase activating protein 25 isoform a							86.0	80.0	82.0					2																	69043495		2203	4300	6503	SO:0001630	splice_region_variant	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69043495G>T	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.878+1G>T	2.37:g.69043495G>T						ARHGAP25_uc010fdg.2_Splice_Site_p.R294_splice|ARHGAP25_uc010yql.1_Splice_Site_p.R254_splice|ARHGAP25_uc002sev.2_Splice_Site_p.R287_splice|ARHGAP25_uc002sew.2_Splice_Site_p.R286_splice|ARHGAP25_uc002sex.2_Splice_Site_p.R287_splice|ARHGAP25_uc010fdh.1_Splice_Site|ARHGAP25_uc002sey.2_Splice_Site_p.R20_splice	p.R293_splice	NM_001007231	NP_001007232	P42331	RHG25_HUMAN			7	1242	+								A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Splice_Site	SNP	ENST00000295381.3	37	c.878_splice		.	.	.	.	.	.	.	.	.	.	G	21.8	4.197383	0.79015	.	.	ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533;ENST00000497259	.	.	.	5.94	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.505	0.75731	0.0:0.0:0.8606:0.1394	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP25	68896999	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.441000	0.97557	1.490000	0.48466	0.650000	0.86243	.		0.488	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882	Intron	13	50	1	0	7.93e-07	1.21e-06	13	50				
EXOC6B	23233	broad.mit.edu	37	2	72722617	72722617	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:72722617T>A	ENST00000272427.6	-	15	1625	c.1495A>T	c.(1495-1497)Aac>Tac	p.N499Y	EXOC6B_ENST00000410104.1_Missense_Mutation_p.N499Y	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	499					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TTAATTTGGTTGTAAACTTTT	0.313																																						uc010fep.2		NA																	0				central_nervous_system(2)	2						c.(1495-1497)AAC>TAC		SEC15-like 2							48.0	47.0	47.0					2																	72722617		1792	4060	5852	SO:0001583	missense	23233				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr2:72722617T>A	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.1495A>T	2.37:g.72722617T>A	ENSP00000272427:p.Asn499Tyr					EXOC6B_uc002sij.2_Missense_Mutation_p.N499Y	p.N499Y	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN			15	1633	-			499					B8ZZY3	Missense_Mutation	SNP	ENST00000272427.6	37	c.1495A>T	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	T	15.09	2.729523	0.48833	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	T;T	0.29917	1.55;1.55	5.36	5.36	0.76844	.	0.238792	0.44097	D	0.000495	T	0.18593	0.0446	L	0.29908	0.895	0.42567	D	0.993166	P;P	0.50710	0.938;0.539	B;B	0.42692	0.273;0.395	T	0.13845	-1.0494	10	0.02654	T	1	.	8.6306	0.33917	0.1703:0.0:0.0:0.8296	.	499;499	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	Y	499	ENSP00000272427:N499Y;ENSP00000386698:N499Y	ENSP00000272427:N499Y	N	-	1	0	EXOC6B	72576125	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.030000	0.49720	2.248000	0.74166	0.533000	0.62120	AAC		0.313	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		3	19	0	0	0	0	3	19				
DQX1	165545	broad.mit.edu	37	2	74750470	74750470	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:74750470T>A	ENST00000404568.3	-	5	1230	c.1011A>T	c.(1009-1011)caA>caT	p.Q337H	DQX1_ENST00000393951.2_Missense_Mutation_p.Q337H|DQX1_ENST00000495597.1_5'UTR	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	337	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CGATGACATGTTGGATGGAAG	0.542																																						uc010yrw.1		NA																	0				ovary(2)	2						c.(1009-1011)CAA>CAT		DEAQ box polypeptide 1 (RNA-dependent ATPase)							185.0	170.0	175.0					2																	74750470		2203	4300	6503	SO:0001583	missense	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74750470T>A	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1011A>T	2.37:g.74750470T>A	ENSP00000384621:p.Gln337His					DQX1_uc002smc.2_5'UTR	p.Q337H	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN			5	1176	-			337			Helicase C-terminal.		Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.1011A>T	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	T	8.510	0.866207	0.17250	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.02606	4.23;4.23	4.75	2.05	0.26809	Helicase, C-terminal (1);	0.397481	0.21410	N	0.074987	T	0.01558	0.0050	N	0.02916	-0.46	0.30580	N	0.762605	B	0.02656	0.0	B	0.01281	0.0	T	0.25328	-1.0135	10	0.56958	D	0.05	-22.119	10.3065	0.43683	0.0:0.0:0.3745:0.6255	.	337	Q8TE96	DQX1_HUMAN	H	337	ENSP00000377523:Q337H;ENSP00000384621:Q337H	ENSP00000377523:Q337H	Q	-	3	2	DQX1	74603978	0.136000	0.22515	0.999000	0.59377	0.789000	0.44602	0.051000	0.14141	0.731000	0.32448	0.459000	0.35465	CAA		0.542	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		50	236	0	0	0	0	50	236				
M1AP	130951	broad.mit.edu	37	2	74867187	74867187	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:74867187C>T	ENST00000290536.5	-	2	332	c.216G>A	c.(214-216)caG>caA	p.Q72Q	M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000409585.1_Silent_p.Q72Q|M1AP_ENST00000536235.1_Silent_p.Q72Q	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	72					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											TGCACTCATGCTGATCTTGTA	0.443																																						uc002smy.2		NA																	0				ovary(1)|pancreas(1)	2						c.(214-216)CAG>CAA		hypothetical protein LOC130951							84.0	81.0	82.0					2																	74867187		2203	4300	6503	SO:0001819	synonymous_variant	130951				chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane		g.chr2:74867187C>T		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.216G>A	2.37:g.74867187C>T						C2orf65_uc010ysa.1_Silent_p.Q72Q|C2orf65_uc002smz.2_Silent_p.Q72Q	p.Q72Q	NM_138804	NP_620159	Q8TC57	CB065_HUMAN			2	333	-			72					B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Silent	SNP	ENST00000290536.5	37	c.216G>A	CCDS33229.1																																																																																				0.443	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804		27	26	0	0	0	0	27	26				
LRRTM4	80059	broad.mit.edu	37	2	77745762	77745762	+	Silent	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:77745762A>T	ENST00000409093.1	-	3	1569	c.1233T>A	c.(1231-1233)ccT>ccA	p.P411P	LRRTM4_ENST00000409282.1_Silent_p.P412P|LRRTM4_ENST00000409088.3_Silent_p.P411P|LRRTM4_ENST00000409884.1_Silent_p.P411P|LRRTM4_ENST00000409911.1_Silent_p.P412P			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	411					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GCTCTGCGCCAGGAATCTGAA	0.483																																						uc002snr.2		NA																	0				pancreas(3)|ovary(1)	4						c.(1231-1233)CCT>CCA		leucine rich repeat transmembrane neuronal 4							110.0	108.0	108.0					2																	77745762		1895	4115	6010	SO:0001819	synonymous_variant	80059					integral to membrane		g.chr2:77745762A>T	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1233T>A	2.37:g.77745762A>T						LRRTM4_uc002snq.2_Silent_p.P411P|LRRTM4_uc002sns.2_Silent_p.P411P|LRRTM4_uc002snt.2_Silent_p.P412P	p.P411P	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1648	-			411			Extracellular (Potential).		Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	c.1233T>A	CCDS46346.1																																																																																				0.483	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		12	62	0	0	0	0	12	62				
REG1A	5967	broad.mit.edu	37	2	79348716	79348716	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:79348716G>T	ENST00000233735.1	+	3	196	c.93G>T	c.(91-93)caG>caT	p.Q31H		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	31					positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						AGTTGCCCCAGGCCCGGATCA	0.517																																						uc002snz.2		NA																	0					0						c.(91-93)CAG>CAT		regenerating islet-derived 1 alpha precursor							171.0	182.0	179.0					2																	79348716		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79348716G>T		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.93G>T	2.37:g.79348716G>T	ENSP00000233735:p.Gln31His					REG1A_uc010ffx.1_Missense_Mutation_p.Q31H|REG1A_uc010ysd.1_Missense_Mutation_p.Q31H	p.Q31H	NM_002909	NP_002900	P05451	REG1A_HUMAN			3	196	+			31					P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.93G>T	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	g	11.10	1.539171	0.27475	.	.	ENSG00000115386	ENST00000233735	T	0.63580	-0.05	2.85	-1.12	0.09808	C-type lectin-like (1);	3.294030	0.01476	N	0.016476	T	0.47581	0.1453	L	0.29908	0.895	0.09310	N	1	B;B	0.24675	0.108;0.109	B;B	0.14023	0.007;0.01	T	0.35176	-0.9799	10	0.72032	D	0.01	.	3.2983	0.06974	0.0:0.2751:0.2358:0.4891	.	31;31	A8K7G6;P05451	.;REG1A_HUMAN	H	31	ENSP00000233735:Q31H	ENSP00000233735:Q31H	Q	+	3	2	REG1A	79202224	0.000000	0.05858	0.000000	0.03702	0.489000	0.33432	-0.765000	0.04730	-0.224000	0.09928	-0.457000	0.05445	CAG		0.517	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		101	219	1	0	4.18e-38	7.96e-38	101	219				
LRRTM1	347730	broad.mit.edu	37	2	80530349	80530349	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:80530349C>A	ENST00000295057.3	-	2	1252	c.596G>T	c.(595-597)aGt>aTt	p.S199I	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.S199I|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	199					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCGCGCCAGACTCTTGAGCTG	0.582										HNSCC(69;0.2)																												uc002sok.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(595-597)AGT>ATT		leucine rich repeat transmembrane neuronal 1							72.0	74.0	74.0					2																	80530349		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530349C>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.596G>T	2.37:g.80530349C>A	ENSP00000295057:p.Ser199Ile	HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.S199I	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	866	-			199			LRR 5.|Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.596G>T	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869366	0.72065	.	.	ENSG00000162951	ENST00000295057;ENST00000409148;ENST00000416268	T;T;T	0.80738	-1.41;-1.41;4.18	4.93	4.93	0.64822	.	0.000000	0.85682	U	0.000000	D	0.88314	0.6403	M	0.64567	1.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87957	0.2727	9	.	.	.	.	18.1217	0.89573	0.0:1.0:0.0:0.0	.	199	Q86UE6	LRRT1_HUMAN	I	199	ENSP00000295057:S199I;ENSP00000386646:S199I;ENSP00000415368:S199I	.	S	-	2	0	LRRTM1	80383860	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.814000	0.86154	2.232000	0.73038	0.655000	0.94253	AGT		0.582	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		33	88	1	0	3.9e-15	6.91e-15	33	88				
ACTR1B	10120	broad.mit.edu	37	2	98275915	98275915	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:98275915C>T	ENST00000289228.5	-	4	431	c.215G>A	c.(214-216)cGc>cAc	p.R72H		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	72					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						CATGGGGTAGCGGATGGTCAG	0.647																																						uc002syb.2		NA																	0				skin(1)	1						c.(214-216)CGC>CAC		ARP1 actin-related protein 1 homolog B,							178.0	169.0	172.0					2																	98275915		2203	4300	6503	SO:0001583	missense	10120					centrosome|dynactin complex	ATP binding|protein binding	g.chr2:98275915C>T	X82207	CCDS2033.1	2q11.1-q11.2	2008-05-20	2001-11-28		ENSG00000115073	ENSG00000115073			168	protein-coding gene	gene with protein product		605144	"""ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)"""	CTRN2		7696711, 10343100	Standard	NM_005735		Approved		uc002syb.2	P42025	OTTHUMG00000130549	ENST00000289228.5:c.215G>A	2.37:g.98275915C>T	ENSP00000289228:p.Arg72His						p.R72H	NM_005735	NP_005726	P42025	ACTY_HUMAN			4	423	-			72					D3DVH2|Q53SK5|Q9BRB7	Missense_Mutation	SNP	ENST00000289228.5	37	c.215G>A	CCDS2033.1	.	.	.	.	.	.	.	.	.	.	.	25.0	4.587738	0.86851	.	.	ENSG00000115073	ENST00000289228	D	0.94897	-3.55	5.18	4.31	0.51392	.	0.065394	0.64402	N	0.000007	D	0.95033	0.8392	L	0.51853	1.615	0.53005	D	0.999962	D	0.56746	0.977	P	0.60012	0.867	D	0.94836	0.8000	10	0.87932	D	0	.	11.2955	0.49276	0.0:0.9107:0.0:0.0893	.	72	P42025	ACTY_HUMAN	H	72	ENSP00000289228:R72H	ENSP00000289228:R72H	R	-	2	0	ACTR1B	97642347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.962000	0.63687	1.194000	0.43101	0.555000	0.69702	CGC		0.647	ACTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252973.1	NM_005735		58	139	0	0	0	0	58	139				
INPP4A	3631	broad.mit.edu	37	2	99155434	99155434	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:99155434G>A	ENST00000523221.1	+	7	660	c.660G>A	c.(658-660)ttG>ttA	p.L220L	INPP4A_ENST00000074304.5_Silent_p.L220L|INPP4A_ENST00000409016.4_Silent_p.L220L|INPP4A_ENST00000545415.1_Silent_p.L220L|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409851.3_Silent_p.L220L|INPP4A_ENST00000409540.3_Silent_p.L220L			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	220					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						AGGACACTTTGCTGAAATCGG	0.488																																						uc002syy.2		NA																	0				kidney(1)	1						c.(658-660)TTG>TTA		inositol polyphosphate-4-phosphatase, type 1							89.0	89.0	89.0					2																	99155434		2026	4189	6215	SO:0001819	synonymous_variant	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99155434G>A	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.660G>A	2.37:g.99155434G>A						INPP4A_uc010yvj.1_Silent_p.L220L|INPP4A_uc010yvk.1_Silent_p.L220L|INPP4A_uc002syx.2_Silent_p.L220L|INPP4A_uc010fik.2_Intron	p.L220L	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN			9	1053	+			220					O15326|Q13187|Q53TD8|Q8TC02	Silent	SNP	ENST00000523221.1	37	c.660G>A	CCDS46369.1																																																																																				0.488	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		7	9	0	0	0	0	7	9				
AFF3	3899	broad.mit.edu	37	2	100199351	100199351	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:100199351C>A	ENST00000409236.2	-	15	2814	c.2702G>T	c.(2701-2703)cGa>cTa	p.R901L	AFF3_ENST00000409579.1_Missense_Mutation_p.R926L|AFF3_ENST00000356421.2_Missense_Mutation_p.R926L|AFF3_ENST00000317233.4_Missense_Mutation_p.R901L			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	901					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCCATTAGGTCGGCTGGAAGA	0.483																																						uc002tag.2		NA																	0				ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(2701-2703)CGA>CTA		AF4/FMR2 family, member 3 isoform 1							162.0	147.0	152.0					2																	100199351		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100199351C>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2702G>T	2.37:g.100199351C>A	ENSP00000387207:p.Arg901Leu					AFF3_uc002taf.2_Missense_Mutation_p.R926L|AFF3_uc010fiq.1_Missense_Mutation_p.R901L|AFF3_uc010yvr.1_Missense_Mutation_p.R1054L|AFF3_uc002tah.1_Missense_Mutation_p.R926L	p.R901L	NM_002285	NP_002276	P51826	AFF3_HUMAN			16	2938	-			901					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.2702G>T	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298874	0.60195	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.83	5.83	0.93111	.	0.288442	0.28796	N	0.014104	T	0.66356	0.2781	M	0.62723	1.935	0.39915	D	0.974083	P;D	0.56287	0.54;0.975	B;P	0.50896	0.295;0.653	T	0.65195	-0.6227	10	0.30078	T	0.28	.	12.6008	0.56497	0.0:0.9244:0.0:0.0756	.	901;926	P51826;P51826-2	AFF3_HUMAN;.	L	901;926;926;901	ENSP00000317421:R901L;ENSP00000348793:R926L;ENSP00000386834:R926L;ENSP00000387207:R901L	ENSP00000317421:R901L	R	-	2	0	AFF3	99565783	0.997000	0.39634	0.862000	0.33874	0.929000	0.56500	0.981000	0.29526	2.770000	0.95276	0.655000	0.94253	CGA		0.483	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		29	42	1	0	7.38e-10	1.21e-09	29	42				
TGFBRAP1	9392	broad.mit.edu	37	2	105889341	105889341	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:105889341G>C	ENST00000393359.2	-	10	2369	c.1943C>G	c.(1942-1944)tCt>tGt	p.S648C	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.S648C			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	648					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GTATAAATCAGATTTCTGGAG	0.557																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	uc002tcq.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1942-1944)TCT>TGT		transforming growth factor, beta receptor							38.0	41.0	40.0					2																	105889341		2203	4300	6503	SO:0001583	missense	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105889341G>C	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.1943C>G	2.37:g.105889341G>C	ENSP00000377027:p.Ser648Cys					TGFBRAP1_uc010fjc.2_Missense_Mutation_p.S417C|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.S648C	p.S648C	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN			10	2027	-			648					A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.1943C>G	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724325	0.68959	.	.	ENSG00000135966	ENST00000393359;ENST00000258449;ENST00000543724	T;T	0.21031	2.03;2.03	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.57932	0.2087	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68153	-0.5484	10	0.87932	D	0	-29.8831	19.181	0.93623	0.0:0.0:1.0:0.0	.	103;648	B3KMM9;Q8WUH2	.;TGFA1_HUMAN	C	648;648;103	ENSP00000377027:S648C;ENSP00000258449:S648C	ENSP00000258449:S648C	S	-	2	0	TGFBRAP1	105255773	1.000000	0.71417	0.066000	0.19879	0.258000	0.26162	9.126000	0.94411	2.527000	0.85204	0.563000	0.77884	TCT		0.557	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		19	46	0	0	0	0	19	46				
FBLN7	129804	broad.mit.edu	37	2	112942839	112942839	+	Silent	SNP	C	C	T	rs370641244		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:112942839C>T	ENST00000331203.2	+	7	1141	c.870C>T	c.(868-870)acC>acT	p.T290T	FBLN7_ENST00000409903.1_Silent_p.T290T|FBLN7_ENST00000409450.3_Silent_p.T244T|FBLN7_ENST00000409667.3_Silent_p.T156T	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	290	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.T290T(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GCATCAACACCGGTGGAAGCT	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20171	0.0		0.0	False		,,,				2504	0.0					uc002tho.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)|central_nervous_system(1)	2						c.(868-870)ACC>ACT		fibulin 7 isoform 1		C	,	1,4405	2.1+/-5.4	0,1,2202	157.0	135.0	142.0		732,870	-8.4	0.2	2		142	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	FBLN7	NM_001128165.1,NM_153214.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	244/394,290/440	112942839	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	129804				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	g.chr2:112942839C>T		CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"""Fibulins"""	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.870C>T	2.37:g.112942839C>T						FBLN7_uc002thn.2_Silent_p.T290T|FBLN7_uc010fki.1_Silent_p.T244T|FBLN7_uc010fkj.1_Silent_p.T156T	p.T290T	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN			7	1141	+			290			EGF-like 3; calcium-binding (Potential).		A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Silent	SNP	ENST00000331203.2	37	c.870C>T	CCDS2095.1																																																																																				0.582	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214		20	89	0	0	0	0	20	89				
POLR1B	84172	broad.mit.edu	37	2	113316883	113316883	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:113316883A>G	ENST00000263331.5	+	9	1924	c.1344A>G	c.(1342-1344)ctA>ctG	p.L448L	POLR1B_ENST00000417433.2_Silent_p.L392L|POLR1B_ENST00000541869.1_Silent_p.L486L|POLR1B_ENST00000498054.1_3'UTR|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000537335.1_Silent_p.L237L	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	448					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TTGGCCTCCTACAAGATTCTG	0.433																																					Ovarian(16;256 576 9537 23969 41147)	uc002thw.2		NA																	0				ovary(1)	1						c.(1342-1344)CTA>CTG		RNA polymerase I polypeptide B isoform 1							178.0	180.0	180.0					2																	113316883		2203	4300	6503	SO:0001819	synonymous_variant	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113316883A>G	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.1344A>G	2.37:g.113316883A>G						POLR1B_uc010fkn.2_Silent_p.L392L|POLR1B_uc002thx.2_Silent_p.L309L|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Silent_p.L486L|POLR1B_uc002thy.2_Silent_p.L309L|POLR1B_uc010yxo.1_Silent_p.L225L	p.L448L	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN			9	1924	+			448					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Silent	SNP	ENST00000263331.5	37	c.1344A>G	CCDS2097.1																																																																																				0.433	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		62	215	0	0	0	0	62	215				
LRP1B	53353	broad.mit.edu	37	2	141458106	141458106	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:141458106G>T	ENST00000389484.3	-	41	7483	c.6512C>A	c.(6511-6513)gCc>gAc	p.A2171D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2171	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATATCCATGGGCACAAGCACA	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(6511-6513)GCC>GAC		low density lipoprotein-related protein 1B							99.0	99.0	99.0					2																	141458106		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141458106G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6512C>A	2.37:g.141458106G>T	ENSP00000374135:p.Ala2171Asp	TSP Lung(27;0.18)					p.A2171D	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	41	7484	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2171			Extracellular (Potential).|EGF-like 5.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.6512C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.990615	0.93106	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95656	-3.77	4.47	4.47	0.54385	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.000000	0.64402	U	0.000001	D	0.97445	0.9164	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98119	1.0424	10	0.62326	D	0.03	.	17.4918	0.87705	0.0:0.0:1.0:0.0	.	2171	Q9NZR2	LRP1B_HUMAN	D	2171;2109	ENSP00000374135:A2171D	ENSP00000374135:A2171D	A	-	2	0	LRP1B	141174576	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.727000	0.98787	2.176000	0.68965	0.585000	0.79938	GCC		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		14	91	1	0	2.63e-14	4.59e-14	14	91				
LRP1B	53353	broad.mit.edu	37	2	142004851	142004851	+	Missense_Mutation	SNP	C	C	G	rs531937590	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:142004851C>G	ENST00000389484.3	-	5	1507	c.536G>C	c.(535-537)aGt>aCt	p.S179T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	179	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCACACAACTGCAAGTGTA	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(535-537)AGT>ACT		low density lipoprotein-related protein 1B							167.0	149.0	155.0					2																	142004851		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:142004851C>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.536G>C	2.37:g.142004851C>G	ENSP00000374135:p.Ser179Thr	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.S179T	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	5	1508	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	179			Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.536G>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	9.197	1.027481	0.19512	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.97529	-4.42	5.53	5.53	0.82687	Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.051825	0.85682	D	0.000000	D	0.94608	0.8262	L	0.35487	1.065	0.37291	D	0.908262	B	0.25048	0.117	B	0.30179	0.112	D	0.92621	0.6108	10	0.16420	T	0.52	.	19.8389	0.96675	0.0:1.0:0.0:0.0	.	179	Q9NZR2	LRP1B_HUMAN	T	179;117	ENSP00000374135:S179T	ENSP00000374135:S179T	S	-	2	0	LRP1B	141721321	1.000000	0.71417	0.995000	0.50966	0.873000	0.50193	3.919000	0.56439	2.755000	0.94549	0.650000	0.86243	AGT		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		27	66	0	0	0	0	27	66				
NMI	9111	broad.mit.edu	37	2	152138463	152138463	+	Splice_Site	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:152138463T>C	ENST00000243346.5	-	3	646	c.176A>G	c.(175-177)cAg>cGg	p.Q59R		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	59					inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription cofactor activity (GO:0003712)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		AGAGAGTACCTGGAATTCTTT	0.284																																						uc002txi.2		NA																	0					0						c.(175-177)CAG>CGG		N-myc and STAT interactor							74.0	78.0	77.0					2																	152138463		2202	4298	6500	SO:0001630	splice_region_variant	9111				inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity	g.chr2:152138463T>C	U32849	CCDS2192.1	2q23	2008-05-23			ENSG00000123609	ENSG00000123609			7854	protein-coding gene	gene with protein product		603525				8668343, 9989503	Standard	NM_004688		Approved		uc002txi.2	Q13287	OTTHUMG00000131867	ENST00000243346.5:c.177+1A>G	2.37:g.152138463T>C						NMI_uc010zbx.1_Missense_Mutation_p.Q59R|NMI_uc002txj.2_Intron	p.Q59R	NM_004688	NP_004679	Q13287	NMI_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0571)	3	506	-			59					B5BU69|Q53TI8|Q9BVE5	Missense_Mutation	SNP	ENST00000243346.5	37	c.176A>G	CCDS2192.1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.153175	0.38021	.	.	ENSG00000123609	ENST00000243346	T	0.31247	1.5	4.98	3.75	0.43078	Interferon induced 35kDa, N-terminal (1);	0.177522	0.50627	D	0.000117	T	0.46014	0.1371	M	0.61703	1.905	0.41153	D	0.986048	D;P	0.89917	1.0;0.728	D;B	0.72982	0.979;0.28	T	0.35798	-0.9774	10	0.40728	T	0.16	-8.8563	7.5656	0.27876	0.1899:0.0:0.0:0.8101	.	59;59	B4DQD4;Q13287	.;NMI_HUMAN	R	59	ENSP00000243346:Q59R	ENSP00000243346:Q59R	Q	-	2	0	NMI	151846709	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	2.316000	0.43761	2.225000	0.72522	0.533000	0.62120	CAG		0.284	NMI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254817.2	NM_004688	Missense_Mutation	14	53	0	0	0	0	14	53				
KCNJ3	3760	broad.mit.edu	37	2	155566132	155566132	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:155566132G>A	ENST00000295101.2	+	2	1197	c.720G>A	c.(718-720)gaG>gaA	p.E240E	KCNJ3_ENST00000544049.1_Intron|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	240					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AGACACCTGAGGGTGAGTTCC	0.448																																						uc002tyv.1		NA																	0				upper_aerodigestive_tract(1)|pancreas(1)	2						c.(718-720)GAG>GAA		potassium inwardly-rectifying channel J3	Halothane(DB01159)						110.0	107.0	108.0					2																	155566132		2203	4300	6503	SO:0001819	synonymous_variant	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155566132G>A	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.720G>A	2.37:g.155566132G>A						KCNJ3_uc010zce.1_Intron	p.E240E	NM_002239	NP_002230	P48549	IRK3_HUMAN			2	915	+			240			Cytoplasmic (By similarity).		B4DEW7|Q8TBI0	Silent	SNP	ENST00000295101.2	37	c.720G>A	CCDS2200.1																																																																																				0.448	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		25	70	0	0	0	0	25	70				
DPP4	1803	broad.mit.edu	37	2	162876781	162876781	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:162876781G>T	ENST00000360534.3	-	14	1762	c.1202C>A	c.(1201-1203)aCc>aAc	p.T401N	DPP4_ENST00000491591.1_5'Flank	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	401					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)	GACTTCCCAGGTGCCTTTTGT	0.338																																						uc002ubz.2		NA																	0				ovary(3)	3						c.(1201-1203)ACC>AAC		dipeptidylpeptidase IV	Sitagliptin(DB01261)						108.0	103.0	104.0					2																	162876781		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.chr2:162876781G>T	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.1202C>A	2.37:g.162876781G>T	ENSP00000353731:p.Thr401Asn					DPP4_uc010fpb.2_Missense_Mutation_p.T77N	p.T401N	NM_001935	NP_001926	P27487	DPP4_HUMAN			14	1763	-			401			Extracellular (Potential).		Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	c.1202C>A	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922821	0.33908	.	.	ENSG00000197635	ENST00000360534	T	0.26810	1.71	5.87	4.89	0.63831	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.662303	0.15670	N	0.250430	T	0.11580	0.0282	N	0.02842	-0.48	0.18873	N	0.999988	B	0.02656	0.0	B	0.01281	0.0	T	0.13282	-1.0515	10	0.15499	T	0.54	-22.9264	14.1302	0.65247	0.0:0.0:0.7536:0.2464	.	401	P27487	DPP4_HUMAN	N	401	ENSP00000353731:T401N	ENSP00000353731:T401N	T	-	2	0	DPP4	162585027	0.901000	0.30685	0.951000	0.38953	0.837000	0.47467	2.634000	0.46528	2.941000	0.99782	0.655000	0.94253	ACC		0.338	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			14	48	1	0	4.93e-13	8.47e-13	14	48				
SCN1A	6323	broad.mit.edu	37	2	166892851	166892851	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:166892851C>G	ENST00000303395.4	-	16	3135	c.3136G>C	c.(3136-3138)Gat>Cat	p.D1046H	SCN1A_ENST00000423058.2_Missense_Mutation_p.D1046H|SCN1A_ENST00000409050.1_Missense_Mutation_p.D1018H|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.D1035H|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1046					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTAATTTCATCTAAAATCTTT	0.318																																						uc010zcz.1		NA																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(3103-3105)GAT>CAT		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						72.0	72.0	72.0					2																	166892851		2201	4297	6498	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166892851C>G	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3136G>C	2.37:g.166892851C>G	ENSP00000303540:p.Asp1046His					SCN1A_uc002udo.3_Missense_Mutation_p.D915H|SCN1A_uc010fpk.2_Missense_Mutation_p.D887H	p.D1035H	NM_006920	NP_008851	P35498	SCN1A_HUMAN			16	3121	-			1046					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.3103G>C	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.125108	0.56721	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88	5.44	5.44	0.79542	Sodium ion transport-associated (1);	0.217048	0.31872	N	0.006940	D	0.91593	0.7344	M	0.68593	2.085	0.40706	D	0.982521	P;P;D	0.65815	0.799;0.832;0.995	P;P;D	0.67231	0.465;0.6;0.95	D	0.92179	0.5750	10	0.72032	D	0.01	.	19.6179	0.95643	0.0:1.0:0.0:0.0	.	1035;1018;1046	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	H	1046;1046;1035;1018	ENSP00000407030:D1046H;ENSP00000303540:D1046H;ENSP00000364554:D1035H;ENSP00000386312:D1018H	ENSP00000303540:D1046H	D	-	1	0	SCN1A	166601097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.010000	0.49559	2.709000	0.92574	0.655000	0.94253	GAT		0.318	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		26	25	0	0	0	0	26	25				
XIRP2	129446	broad.mit.edu	37	2	168107290	168107290	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:168107290G>T	ENST00000409195.1	+	9	9477	c.9388G>T	c.(9388-9390)Gcc>Tcc	p.A3130S	XIRP2_ENST00000409273.1_Missense_Mutation_p.A2908S|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.A3130S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2955					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAATCTACTGCCCGACGAAC	0.438																																						uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(9388-9390)GCC>TCC		xin actin-binding repeat containing 2 isoform 1							82.0	78.0	79.0					2																	168107290		1858	4089	5947	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107290G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9388G>T	2.37:g.168107290G>T	ENSP00000386840:p.Ala3130Ser					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.A2955S|XIRP2_uc010fpq.2_Missense_Mutation_p.A2908S|XIRP2_uc010fpr.2_Intron	p.A3130S	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	9406	+			2955					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.9388G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	8.705	0.910745	0.17833	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.09538	3.01;3.01;2.97	5.67	4.8	0.61643	.	0.233267	0.43416	D	0.000564	T	0.17323	0.0416	M	0.69823	2.125	0.09310	N	0.999994	B;B;B	0.27068	0.104;0.167;0.167	B;B;B	0.33750	0.081;0.169;0.169	T	0.10019	-1.0648	10	0.49607	T	0.09	-2.6555	12.5337	0.56131	0.0809:0.0:0.9191:0.0	.	2955;2955;2908	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	S	3130;3130;2908;544	ENSP00000386840:A3130S;ENSP00000295237:A3130S;ENSP00000387255:A2908S	ENSP00000295237:A3130S	A	+	1	0	XIRP2	167815536	0.996000	0.38824	0.242000	0.24170	0.061000	0.15899	4.295000	0.59049	1.409000	0.46915	0.557000	0.71058	GCC		0.438	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		41	42	1	0	1.31e-17	2.37e-17	41	42				
LRP2	4036	broad.mit.edu	37	2	170028586	170028586	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:170028586A>G	ENST00000263816.3	-	58	11487	c.11202T>C	c.(11200-11202)ccT>ccC	p.P3734P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3734	LDL-receptor class A 31. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GCCAACGAAGAGGGATGCAGT	0.473																																						uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(11200-11202)CCT>CCC		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						142.0	127.0	132.0					2																	170028586		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170028586A>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11202T>C	2.37:g.170028586A>G							p.P3734P	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	58	11415	-			3734			LDL-receptor class A 31.|Extracellular (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.11202T>C	CCDS2232.1																																																																																				0.473	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		41	45	0	0	0	0	41	45				
TTN	7273	broad.mit.edu	37	2	179395060	179395060	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:179395060C>G	ENST00000591111.1	-	308	101583	c.101359G>C	c.(101359-101361)Gat>Cat	p.D33787H	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D35428H|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D32860H|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D26363H|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D26488H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D26555H|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589842.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33787	Ig-like 149.				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)			ACAGTTGTATCCTGCAACCCA	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.(98578-98580)GAT>CAT		titin isoform N2-A							152.0	137.0	142.0					2																	179395060		1827	4083	5910	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179395060C>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.101359G>C	2.37:g.179395060C>G	ENSP00000465570:p.Asp33787His					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D26555H|TTN_uc010zfi.1_Missense_Mutation_p.D26488H|TTN_uc010zfj.1_Missense_Mutation_p.D26363H|TTN_uc002umq.2_5'Flank	p.D32860H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	98802	-			33787					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.98578G>C		.	.	.	.	.	.	.	.	.	.	C	15.02	2.708379	0.48517	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.23	5.23	0.72850	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69806	0.3152	M	0.80847	2.515	0.43141	D	0.994893	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.74740	-0.3563	9	0.87932	D	0	.	14.3264	0.66523	0.0:1.0:0.0:0.0	.	26363;26488;26555;33787	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	32860;26363;26555;26488;26360	ENSP00000343764:D32860H;ENSP00000434586:D26363H;ENSP00000340554:D26555H;ENSP00000352154:D26488H	ENSP00000340554:D26555H	D	-	1	0	TTN	179103306	0.997000	0.39634	1.000000	0.80357	0.937000	0.57800	3.650000	0.54424	2.453000	0.82957	0.561000	0.74099	GAT		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	123	0	0	0	0	27	123				
TTN	7273	broad.mit.edu	37	2	179419418	179419418	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:179419418G>T	ENST00000591111.1	-	282	83957	c.83733C>A	c.(83731-83733)acC>acA	p.T27911T	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.T29552T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.T26984T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.T20487T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Silent_p.T20612T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.T20679T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27911	Fibronectin type-III 103. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCAGAGAAGGGTGATCTTCT	0.473																																						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.(80950-80952)ACC>ACA		titin isoform N2-A							120.0	121.0	121.0					2																	179419418		1972	4164	6136	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179419418G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.83733C>A	2.37:g.179419418G>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T20679T|TTN_uc010zfi.1_Silent_p.T20612T|TTN_uc010zfj.1_Silent_p.T20487T	p.T26984T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		281	81176	-			27911					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.80952C>A																																																																																					0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		61	82	1	0	3.84e-29	7.27e-29	61	82				
TTN	7273	broad.mit.edu	37	2	179442239	179442239	+	Splice_Site	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:179442239T>C	ENST00000591111.1	-	274	64126		c.e274-2		TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000589042.1_Splice_Site|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Splice_Site|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Splice_Site|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGTGCCTCTGCAAAGAAAA	0.343																																						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.e273-1		titin isoform N2-A							43.0	39.0	40.0					2																	179442239		1830	4081	5911	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179442239T>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.63902-2A>G	2.37:g.179442239T>C						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Splice_Site_p.E14069_splice|TTN_uc010zfi.1_Splice_Site_p.E14002_splice|TTN_uc010zfj.1_Splice_Site_p.E13877_splice|uc002umv.1_5'Flank	p.E20374_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		273	61345	-								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	Splice_Site	SNP	ENST00000591111.1	37	c.61121_splice		.	.	.	.	.	.	.	.	.	.	T	17.87	3.494391	0.64186	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0529	0.80775	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179150485	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.991000	0.88244	2.257000	0.74773	0.459000	0.35465	.		0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	13	34	0	0	0	0	13	34				
TTN	7273	broad.mit.edu	37	2	179490067	179490067	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:179490067T>C	ENST00000591111.1	-	191	39782	c.39558A>G	c.(39556-39558)ttA>ttG	p.L13186L	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Silent_p.L14827L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.L12259L|TTN_ENST00000460472.2_Silent_p.L5762L|TTN_ENST00000359218.5_Silent_p.L5887L|TTN_ENST00000342175.6_Silent_p.L5954L|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13186	Ig-like 87.				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)			CAGCATCTTCTAACTTTACAT	0.353																																						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.(36775-36777)TTA>TTG		titin isoform N2-A							231.0	223.0	225.0					2																	179490067		1839	4074	5913	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179490067T>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.39558A>G	2.37:g.179490067T>C						TTN_uc010zfh.1_Silent_p.L5954L|TTN_uc010zfi.1_Silent_p.L5887L|TTN_uc010zfj.1_Silent_p.L5762L	p.L12259L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		190	37001	-			13186					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.36777A>G																																																																																					0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		119	90	0	0	0	0	119	90				
TTN	7273	broad.mit.edu	37	2	179578835	179578835	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:179578835C>T	ENST00000591111.1	-	90	25823	c.25599G>A	c.(25597-25599)gaG>gaA	p.E8533E	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.E8850E|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.E7606E|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12698	Ig-like 68.				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)			CTACTGTACACTCCAAGGTAC	0.388																																						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.(22816-22818)GAG>GAA		titin isoform N2-A							88.0	80.0	83.0					2																	179578835		1848	4091	5939	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179578835C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25599G>A	2.37:g.179578835C>T						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.E4267E	p.E7606E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		89	23042	-			8533					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.22818G>A																																																																																					0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	36	0	0	0	0	8	36				
TTN	7273	broad.mit.edu	37	2	179612696	179612696	+	Intron	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:179612696C>A	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.D4811Y|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCTGTGGTCTTCCAAAGTG	0.483																																						uc002unb.2		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(14431-14433)GAC>TAC		titin isoform novex-3							71.0	56.0	61.0					2																	179612696		2203	4300	6503	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179612696C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+5154G>T	2.37:g.179612696C>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.D4811Y	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	14655	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.14431G>T		.	.	.	.	.	.	.	.	.	.	C	9.840	1.190782	0.21954	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.58797	0.31	5.5	2.41	0.29592	.	.	.	.	.	T	0.42291	0.1196	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31308	-0.9948	9	0.41790	T	0.15	.	3.7988	0.08750	0.1634:0.4938:0.0:0.3429	.	4811	Q8WZ42-6	.	Y	4811;125	ENSP00000354117:D4811Y	ENSP00000304714:D125Y	D	-	1	0	TTN	179320941	0.000000	0.05858	0.013000	0.15412	0.010000	0.07245	0.066000	0.14489	0.180000	0.19960	-0.158000	0.13435	GAC		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	52	1	0	0.000274275	0.000385606	9	52				
TTN	7273	broad.mit.edu	37	2	179617888	179617888	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:179617888A>G	ENST00000591111.1	-	45	10547	c.10323T>C	c.(10321-10323)caT>caC	p.H3441H	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.H3758H|TTN_ENST00000342992.6_Silent_p.H3441H|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Silent_p.H3441H|TTN_ENST00000460472.2_Silent_p.H3395H|TTN_ENST00000359218.5_Silent_p.H3520H|TTN_ENST00000342175.6_Silent_p.H3587H			Q8WZ42	TITIN_HUMAN	titin	13754					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)			CAATCCTCTCATGCAAAATTG	0.284																																						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.(10321-10323)CAT>CAC		titin isoform N2-A							48.0	51.0	50.0					2																	179617888		2197	4282	6479	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179617888A>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.10323T>C	2.37:g.179617888A>G						TTN_uc010zfh.1_Silent_p.H3587H|TTN_uc010zfi.1_Silent_p.H3520H|TTN_uc010zfj.1_Silent_p.H3395H|TTN_uc002umz.1_Silent_p.H102H|TTN_uc002unb.2_Silent_p.H3441H	p.H3441H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		45	10547	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.10323T>C																																																																																					0.284	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	30	0	0	0	0	7	30				
ZNF804A	91752	broad.mit.edu	37	2	185801353	185801353	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:185801353T>A	ENST00000302277.6	+	4	1824	c.1230T>A	c.(1228-1230)acT>acA	p.T410T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	410							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTAACATAACTATACATAAGA	0.383																																						uc002uph.2		NA																	0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(1228-1230)ACT>ACA		zinc finger protein 804A							87.0	95.0	93.0					2																	185801353		2203	4298	6501	SO:0001819	synonymous_variant	91752					intracellular	zinc ion binding	g.chr2:185801353T>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1230T>A	2.37:g.185801353T>A							p.T410T	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	1824	+			410					A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	c.1230T>A	CCDS2291.1																																																																																				0.383	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		34	106	0	0	0	0	34	106				
ZNF804A	91752	broad.mit.edu	37	2	185803105	185803105	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:185803105T>A	ENST00000302277.6	+	4	3576	c.2982T>A	c.(2980-2982)taT>taA	p.Y994*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	994							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GGCTGCGTTATAATTCAGGAA	0.433																																						uc002uph.2		NA																	0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(2980-2982)TAT>TAA		zinc finger protein 804A							105.0	98.0	100.0					2																	185803105		2203	4300	6503	SO:0001587	stop_gained	91752					intracellular	zinc ion binding	g.chr2:185803105T>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2982T>A	2.37:g.185803105T>A	ENSP00000303252:p.Tyr994*						p.Y994*	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3576	+			994					A7E253|Q6ZN26	Nonsense_Mutation	SNP	ENST00000302277.6	37	c.2982T>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	T	41	8.972993	0.99021	.	.	ENSG00000170396	ENST00000302277	.	.	.	5.14	-1.19	0.09585	.	0.494872	0.16892	N	0.195279	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1809	10.3625	0.44003	0.0:0.4875:0.0:0.5125	.	.	.	.	X	994	.	ENSP00000303252:Y994X	Y	+	3	2	ZNF804A	185511350	0.192000	0.23301	0.089000	0.20774	0.682000	0.39822	-0.659000	0.05323	-0.221000	0.09973	0.383000	0.25322	TAT		0.433	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		44	47	0	0	0	0	44	47				
COL3A1	1281	broad.mit.edu	37	2	189868759	189868759	+	Missense_Mutation	SNP	C	C	A	rs112640146	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:189868759C>A	ENST00000304636.3	+	39	2883	c.2713C>A	c.(2713-2715)Cca>Aca	p.P905T	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	905	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GGATGGGCCCCCAGGTCCTGC	0.527																																						uc002uqj.1		NA																	0				central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(2713-2715)CCA>ACA		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						25.0	28.0	27.0					2																	189868759		2203	4299	6502	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189868759C>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2713C>A	2.37:g.189868759C>A	ENSP00000304408:p.Pro905Thr						p.P905T	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		39	2830	+			905			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.2713C>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071533	0.36566	.	.	ENSG00000168542	ENST00000304636	D	0.96073	-3.9	5.5	1.59	0.23543	.	0.409426	0.20750	N	0.086369	D	0.92159	0.7514	L	0.39397	1.21	0.80722	D	1	B	0.24258	0.1	B	0.18561	0.022	D	0.84307	0.0508	10	0.30078	T	0.28	.	18.1061	0.89520	0.0:0.5142:0.4858:0.0	.	905	P02461	CO3A1_HUMAN	T	905	ENSP00000304408:P905T	ENSP00000304408:P905T	P	+	1	0	COL3A1	189577004	0.082000	0.21442	0.985000	0.45067	0.705000	0.40729	1.258000	0.32944	0.012000	0.14892	-0.233000	0.12211	CCA		0.527	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		6	27	1	0	0.00116845	0.0016151	6	27				
DNAH7	56171	broad.mit.edu	37	2	196753557	196753557	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:196753557T>A	ENST00000312428.6	-	32	5295	c.5195A>T	c.(5194-5196)gAg>gTg	p.E1732V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1732	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCCATTGGCTCAAAAATTAG	0.348																																						uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(5194-5196)GAG>GTG		dynein, axonemal, heavy chain 7							99.0	97.0	97.0					2																	196753557		1896	4119	6015	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196753557T>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5195A>T	2.37:g.196753557T>A	ENSP00000311273:p.Glu1732Val						p.E1732V	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			32	5296	-			1732			AAA 2 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.5195A>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.937285	0.73557	.	.	ENSG00000118997	ENST00000312428	D	0.97066	-4.23	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.99199	0.9722	H	0.99182	4.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98705	1.0702	10	0.87932	D	0	.	15.3617	0.74483	0.0:0.0:0.0:1.0	.	1732	Q8WXX0	DYH7_HUMAN	V	1732	ENSP00000311273:E1732V	ENSP00000311273:E1732V	E	-	2	0	DNAH7	196461802	1.000000	0.71417	1.000000	0.80357	0.496000	0.33645	7.896000	0.87350	2.173000	0.68751	0.533000	0.62120	GAG		0.348	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		10	33	0	0	0	0	10	33				
SF3B1	23451	broad.mit.edu	37	2	198263271	198263271	+	Silent	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:198263271C>G	ENST00000335508.6	-	21	3139	c.3048G>C	c.(3046-3048)ctG>ctC	p.L1016L		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1016					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTCTAGGCAGCAGATCTTTAA	0.353			Mis		myelodysplastic syndrome																																	uc002uue.2		NA		Dom	yes		2	2q33.1	23451		"""splicing factor 3b, subunit 1, 155kDa"""			L					0				pancreas(3)|ovary(1)|breast(1)|skin(1)	6						c.(3046-3048)CTG>CTC		splicing factor 3b, subunit 1 isoform 1							149.0	148.0	148.0					2																	198263271		2203	4300	6503	SO:0001819	synonymous_variant	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198263271C>G	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.3048G>C	2.37:g.198263271C>G							p.L1016L	NM_012433	NP_036565	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		21	3096	-			1016			HEAT 8.		E9PCH3	Silent	SNP	ENST00000335508.6	37	c.3048G>C	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	7.823	0.718094	0.15372	.	.	ENSG00000115524	ENST00000424674	.	.	.	5.77	-0.739	0.11120	.	.	.	.	.	T	0.50905	0.1643	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41645	-0.9497	4	.	.	.	.	5.8044	0.18432	0.1041:0.3667:0.4066:0.1225	.	.	.	.	S	32	.	.	C	-	2	0	SF3B1	197971516	0.555000	0.26530	0.998000	0.56505	0.998000	0.95712	-0.120000	0.10660	0.127000	0.18452	0.655000	0.94253	TGC		0.353	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			31	75	0	0	0	0	31	75				
BOLL	66037	broad.mit.edu	37	2	198646475	198646475	+	Missense_Mutation	SNP	G	G	A	rs377264153		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:198646475G>A	ENST00000392296.4	-	2	409	c.100C>T	c.(100-102)Cgc>Tgc	p.R34C	BOLL_ENST00000321801.7_Missense_Mutation_p.R46C|BOLL_ENST00000430004.1_Missense_Mutation_p.R34C|BOLL_ENST00000433157.1_Missense_Mutation_p.R34C|BOLL_ENST00000282278.8_5'UTR	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	34	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						ACAAAGATGCGATTAGGGATC	0.363																																						uc002uus.2		NA																	0				ovary(2)	2						c.(100-102)CGC>TGC		boule isoform 2		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	192.0	193.0	193.0		100,136	5.6	1.0	2		193	0,8600		0,0,4300	no	missense,missense	BOLL	NM_033030.5,NM_197970.2	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	34/284,46/296	198646475	1,13005	2203	4300	6503	SO:0001583	missense	66037				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity	g.chr2:198646475G>A		CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"""RNA binding motif (RRM) containing"""	14273	protein-coding gene	gene with protein product		606165	"""bol (Drosophila boule homolog)-like"", ""bol, boule-like (Drosophila)"""			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.100C>T	2.37:g.198646475G>A	ENSP00000376116:p.Arg34Cys					BOLL_uc002uur.2_Missense_Mutation_p.R40C|BOLL_uc002uut.2_Missense_Mutation_p.R46C|BOLL_uc010zha.1_5'UTR|BOLL_uc002uuu.1_Missense_Mutation_p.R40C	p.R34C	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN			2	410	-			34			RRM.		B4DZA4|Q0JW32|Q53T62|Q969U3	Missense_Mutation	SNP	ENST00000392296.4	37	c.100C>T	CCDS2325.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357182	0.82243	2.27E-4	0.0	ENSG00000152430	ENST00000430004;ENST00000392296;ENST00000321801;ENST00000433157	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	5.62	5.62	0.85841	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	D	0.94870	0.8342	M	0.91663	3.23	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.99;1.0;0.999	D	0.95612	0.8673	10	0.87932	D	0	-17.2753	16.569	0.84606	0.0:0.0:1.0:0.0	.	40;46;34;40	Q8N9W6-2;Q8N9W6-3;Q8N9W6;Q8N9W6-4	.;.;BOLL_HUMAN;.	C	34;34;46;34	ENSP00000397711:R34C;ENSP00000376116:R34C;ENSP00000314792:R46C;ENSP00000396099:R34C	ENSP00000314792:R46C	R	-	1	0	BOLL	198354720	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.708000	0.61859	2.642000	0.89623	0.561000	0.74099	CGC		0.363	BOLL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256107.3	NM_033030		27	98	0	0	0	0	27	98				
FAM126B	285172	broad.mit.edu	37	2	201846100	201846100	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:201846100G>T	ENST00000418596.3	-	12	1673	c.1486C>A	c.(1486-1488)Cgg>Agg	p.R496R	AC005037.3_ENST00000332935.6_RNA|AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	496						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TGACCTAGCCGGTCTTCCTGC	0.512																																						uc002uws.3		NA																	0				ovary(1)	1						c.(1486-1488)CGG>AGG		hypothetical protein LOC285172							121.0	101.0	108.0					2																	201846100		2203	4300	6503	SO:0001819	synonymous_variant	285172					intracellular		g.chr2:201846100G>T	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.1486C>A	2.37:g.201846100G>T						FAM126B_uc002uwu.2_Silent_p.R470R|FAM126B_uc002uwv.2_Silent_p.R496R	p.R496R	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN			12	1674	-			496					B2RCG7|Q4ZG87|Q53TX6	Silent	SNP	ENST00000418596.3	37	c.1486C>A	CCDS2335.1																																																																																				0.512	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		4	45	1	0	0.00024832	0.000350478	4	45				
TMEM237	65062	broad.mit.edu	37	2	202494493	202494493	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:202494493C>A	ENST00000409883.2	-	8	752	c.636G>T	c.(634-636)tgG>tgT	p.W212C	TMEM237_ENST00000466839.1_5'UTR|TMEM237_ENST00000409444.2_Missense_Mutation_p.W204C	NM_001044385.2	NP_001037850.1	Q96Q45	TM237_HUMAN	transmembrane protein 237	212					cilium assembly (GO:0042384)|regulation of Wnt signaling pathway (GO:0030111)	ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						CTCTGGTGGTCCAGGAAGGCT	0.428																																						uc002uyh.1		NA																	0					0						c.(634-636)TGG>TGT		amyotrophic lateral sclerosis 2 (juvenile)							108.0	109.0	109.0					2																	202494493		1904	4118	6022	SO:0001583	missense	65062					integral to membrane	protein binding	g.chr2:202494493C>A	AB053301	CCDS46489.1, CCDS46490.1	2q33	2012-05-08	2011-05-20	2011-05-20	ENSG00000155755	ENSG00000155755			14432	protein-coding gene	gene with protein product		614423	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4"""	ALS2CR4		11586298, 20375344	Standard	NM_001044385		Approved	JBTS14	uc021vvg.2	Q96Q45	OTTHUMG00000154526	ENST00000409883.2:c.636G>T	2.37:g.202494493C>A	ENSP00000386264:p.Trp212Cys					ALS2CR4_uc002uyg.1_Missense_Mutation_p.W204C|ALS2CR4_uc010zho.1_Missense_Mutation_p.W7C|ALS2CR4_uc010zhp.1_RNA	p.W212C	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN			9	737	-			236					B4E1R8|B4E2R8|E9PAR8|E9PBF8|E9PG24|E9PGX0|Q53TS9|Q53TT2|Q7Z3B6|Q8IZ18|Q8NBF8|Q96CY1	Missense_Mutation	SNP	ENST00000409883.2	37	c.636G>T	CCDS46489.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656560	0.88154	.	.	ENSG00000155755	ENST00000409444;ENST00000409883;ENST00000435876;ENST00000426684;ENST00000409099	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.79423	0.4443	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78420	-0.2211	9	0.56958	D	0.05	-8.3713	20.3627	0.98863	0.0:1.0:0.0:0.0	.	212;236	E9PAR8;Q96Q45	.;TM237_HUMAN	C	204;212;212;234;117	.	ENSP00000386949:W117C	W	-	3	0	TMEM237	202202738	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.065000	0.76727	2.885000	0.99019	0.655000	0.94253	TGG		0.428	TMEM237-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335753.1	NM_152388		26	78	1	0	2.45e-14	4.3e-14	26	78				
PTH2R	5746	broad.mit.edu	37	2	209302279	209302279	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:209302279G>T	ENST00000272847.2	+	3	409	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	66					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	TTGTTTCCCTGAATGGGATGG	0.343																																						uc002vdb.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(196-198)GAA>TAA		parathyroid hormone 2 receptor precursor							69.0	72.0	71.0					2																	209302279		2203	4299	6502	SO:0001587	stop_gained	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209302279G>T	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.196G>T	2.37:g.209302279G>T	ENSP00000272847:p.Glu66*					PTH2R_uc010zjb.1_Nonsense_Mutation_p.E77*	p.E66*	NM_005048	NP_005039	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	3	409	+			66			Extracellular (Potential).		Q8N429	Nonsense_Mutation	SNP	ENST00000272847.2	37	c.196G>T	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	G	37	6.599083	0.97692	.	.	ENSG00000144407	ENST00000272847	.	.	.	5.6	5.6	0.85130	.	0.000000	0.49305	D	0.000156	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	17.4647	0.87629	0.0:0.0:1.0:0.0	.	.	.	.	X	66	.	ENSP00000272847:E66X	E	+	1	0	PTH2R	209010524	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	8.910000	0.92685	2.793000	0.96121	0.563000	0.77884	GAA		0.343	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		23	26	1	0	7.88e-14	1.37e-13	23	26				
VWC2L	402117	broad.mit.edu	37	2	215301351	215301351	+	Splice_Site	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:215301351A>T	ENST00000312504.5	+	3	1192		c.e3-1		AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_Intron	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like						negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						ATTTGTTCCTAGCCCTCTCCA	0.428																																						uc002vet.2		NA																	0					0						c.e3-2		von Willebrand factor C domain-containing							94.0	93.0	93.0					2																	215301351		1983	4146	6129	SO:0001630	splice_region_variant	402117					extracellular region		g.chr2:215301351A>T	AB374231	CCDS46509.1	2q34-q35	2011-01-25	2011-01-25		ENSG00000174453	ENSG00000174453			37203	protein-coding gene	gene with protein product			"""von Willebrand factor C domain-containing protein 2-like"""				Standard	NM_001080500		Approved		uc002vet.2	B2RUY7	OTTHUMG00000154811	ENST00000312504.5:c.391-1A>T	2.37:g.215301351A>T						VWC2L_uc010zjl.1_Intron	p.P131_splice	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN			3	521	+								A6NC69|B2RUW7|B7X8X1	Splice_Site	SNP	ENST00000312504.5	37	c.391_splice	CCDS46509.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.547711	0.86022	.	.	ENSG00000174453	ENST00000312504	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2713	0.82622	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VWC2L	215009596	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.335000	0.96500	2.232000	0.73038	0.528000	0.53228	.		0.428	VWC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337175.1	NM_001080500	Intron	33	24	0	0	0	0	33	24				
CXCR1	3577	broad.mit.edu	37	2	219029140	219029140	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:219029140G>T	ENST00000295683.2	-	2	915	c.795C>A	c.(793-795)gaC>gaA	p.D265E		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	265					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	TCATGAGGGTGTCTGCCAGCA	0.592																																						uc002vhc.2		NA																	0				lung(2)	2						c.(793-795)GAC>GAA		interleukin 8 receptor alpha							89.0	83.0	85.0					2																	219029140		2203	4300	6503	SO:0001583	missense	3577				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	g.chr2:219029140G>T	U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6026	protein-coding gene	gene with protein product		146929	"""interleukin 8 receptor, alpha"""	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.795C>A	2.37:g.219029140G>T	ENSP00000295683:p.Asp265Glu						p.D265E	NM_000634	NP_000625	P25024	CXCR1_HUMAN			2	914	-			265			Extracellular (Potential).		B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Missense_Mutation	SNP	ENST00000295683.2	37	c.795C>A	CCDS2409.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679862	0.68042	.	.	ENSG00000163464	ENST00000295683;ENST00000421691	T	0.71934	-0.61	4.74	2.89	0.33648	GPCR, rhodopsin-like superfamily (1);	0.152935	0.56097	D	0.000033	T	0.78013	0.4217	M	0.67700	2.07	0.38847	D	0.956198	D	0.56287	0.975	D	0.63877	0.919	T	0.78011	-0.2371	10	0.45353	T	0.12	.	9.0159	0.36170	0.2523:0.0:0.7477:0.0	.	265	P25024	CXCR1_HUMAN	E	265;209	ENSP00000295683:D265E	ENSP00000295683:D265E	D	-	3	2	CXCR1	218737385	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	3.395000	0.52558	1.097000	0.41459	0.561000	0.74099	GAC		0.592	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634		31	98	1	0	1.75e-13	3.03e-13	31	98				
RHBDD1	84236	broad.mit.edu	37	2	227731999	227731999	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:227731999G>T	ENST00000341329.3	+	3	773	c.531G>T	c.(529-531)tgG>tgT	p.W177C	RHBDD1_ENST00000392062.2_Missense_Mutation_p.W177C	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	177					apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TTGCTTGTTGGGTCGAACTTG	0.398																																						uc002voi.2		NA																	0				ovary(1)	1						c.(529-531)TGG>TGT		rhomboid domain containing 1							256.0	246.0	250.0					2																	227731999		2203	4300	6503	SO:0001583	missense	84236					integral to membrane	serine-type endopeptidase activity	g.chr2:227731999G>T	AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.531G>T	2.37:g.227731999G>T	ENSP00000344779:p.Trp177Cys					RHBDD1_uc010fxc.2_Missense_Mutation_p.W177C	p.W177C	NM_032276	NP_115652	Q8TEB9	RHBD1_HUMAN		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)	3	652	+		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)	177					Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Missense_Mutation	SNP	ENST00000341329.3	37	c.531G>T	CCDS2464.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.729900	0.89390	.	.	ENSG00000144468	ENST00000341329;ENST00000392062	T;T	0.33654	1.4;1.4	5.89	5.89	0.94794	Peptidase S54, rhomboid domain (1);	0.000000	0.85682	D	0.000000	T	0.72260	0.3438	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78593	-0.2144	10	0.72032	D	0.01	-13.5512	20.2488	0.98402	0.0:0.0:1.0:0.0	.	177	Q8TEB9	RHBD1_HUMAN	C	177	ENSP00000344779:W177C;ENSP00000375914:W177C	ENSP00000344779:W177C	W	+	3	0	RHBDD1	227440243	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.897000	0.92532	2.796000	0.96246	0.585000	0.79938	TGG		0.398	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256885.2			80	79	1	0	9.11e-29	1.72e-28	80	79				
ALPP	250	broad.mit.edu	37	2	233244620	233244620	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:233244620C>A	ENST00000392027.2	+	5	900	c.631C>A	c.(631-633)Cag>Aag	p.Q211K	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	211					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CATCGCTACGCAGCTCATCTC	0.672																																						uc002vsq.2		NA																	0				ovary(1)	1						c.(631-633)CAG>AAG		placental alkaline phosphatase preproprotein							69.0	70.0	70.0					2																	233244620		2203	4299	6502	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233244620C>A	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.631C>A	2.37:g.233244620C>A	ENSP00000375881:p.Gln211Lys					ALPP_uc002vsr.2_5'Flank	p.Q211K	NM_001632	NP_001623	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	5	796	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	211					P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.631C>A	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	14.97	2.694630	0.48202	.	.	ENSG00000163283	ENST00000392027	D	0.97505	-4.41	2.31	2.31	0.28768	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99102	0.9691	H	0.99555	4.625	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.98327	1.0531	10	0.87932	D	0	.	12.9891	0.58608	0.0:1.0:0.0:0.0	.	211	P05187	PPB1_HUMAN	K	211	ENSP00000375881:Q211K	ENSP00000375881:Q211K	Q	+	1	0	ALPP	232952864	0.999000	0.42202	0.502000	0.27614	0.033000	0.12548	4.273000	0.58914	1.289000	0.44618	0.298000	0.19748	CAG		0.672	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		16	85	1	0	4.97e-08	7.85e-08	16	85				
ALPPL2	251	broad.mit.edu	37	2	233272622	233272622	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:233272622C>A	ENST00000295453.3	+	5	595	c.543C>A	c.(541-543)caC>caA	p.H181Q		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	181					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	CCTACGCCCACACGGTGAACC	0.627																																						uc002vss.3		NA																	0				skin(1)	1						c.(541-543)CAC>CAA		placental-like alkaline phosphatase	Amifostine(DB01143)|Levamisole(DB00848)						69.0	70.0	70.0					2																	233272622		2203	4299	6502	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233272622C>A	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.543C>A	2.37:g.233272622C>A	ENSP00000295453:p.His181Gln						p.H181Q	NM_031313	NP_112603	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	5	596	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	181					A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.543C>A	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	c	11.53	1.664838	0.29604	.	.	ENSG00000163286	ENST00000295453	D	0.97772	-4.53	2.71	1.8	0.24995	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98966	0.9648	H	0.97852	4.09	0.41536	D	0.988486	D	0.76494	0.999	D	0.76071	0.987	D	0.98023	1.0372	10	0.87932	D	0	.	8.2463	0.31691	0.0:0.7898:0.0:0.2102	.	181	P10696	PPBN_HUMAN	Q	181	ENSP00000295453:H181Q	ENSP00000295453:H181Q	H	+	3	2	ALPPL2	232980866	0.004000	0.15560	0.334000	0.25495	0.206000	0.24218	0.108000	0.15396	1.499000	0.48617	0.205000	0.17691	CAC		0.627	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		25	91	1	0	9.58e-11	1.59e-10	25	91				
INPP5D	3635	broad.mit.edu	37	2	234112790	234112790	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:234112790G>C	ENST00000359570.5	+	28	2958	c.2958G>C	c.(2956-2958)aaG>aaC	p.K986N	RN7SL32P_ENST00000580514.1_RNA|INPP5D_ENST00000455936.2_Missense_Mutation_p.K750N|INPP5D_ENST00000450745.1_Missense_Mutation_p.K750N			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	998	Pro-rich.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		ACCTGGGGAAGAACGCAGGGG	0.597																																					NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2992-2994)AAG>AAC		SH2 containing inositol phosphatase isoform a							16.0	24.0	21.0					2																	234112790		2059	4176	6235	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234112790G>C	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2958G>C	2.37:g.234112790G>C	ENSP00000352575:p.Lys986Asn					INPP5D_uc010zmp.1_Missense_Mutation_p.K997N	p.K998N	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	25	3147	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	998			Pro-rich.		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.2994G>C		.	.	.	.	.	.	.	.	.	.	G	13.20	2.166932	0.38217	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D	0.96992	-4.15;-4.2;-4.2;-4.2;-4.2;-4.2	4.65	4.65	0.58169	.	0.247697	0.34362	N	0.004032	D	0.97284	0.9112	.	.	.	0.27490	N	0.952308	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	D	0.92907	0.6344	9	0.42905	T	0.14	.	10.3817	0.44115	0.0941:0.0:0.9059:0.0	.	997;998	Q92835-2;Q92835	.;SHIP1_HUMAN	N	986;750;750;619;619;619	ENSP00000352575:K986N;ENSP00000407916:K750N;ENSP00000404610:K750N;ENSP00000400151:K619N;ENSP00000397421:K619N;ENSP00000405338:K619N	ENSP00000352575:K986N	K	+	3	2	INPP5D	233777529	0.953000	0.32496	0.958000	0.39756	0.044000	0.14063	1.277000	0.33167	2.135000	0.66039	0.655000	0.94253	AAG		0.597	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		4	11	0	0	0	0	4	11				
TRPM8	79054	broad.mit.edu	37	2	234862641	234862641	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:234862641C>T	ENST00000324695.4	+	10	1261	c.1221C>T	c.(1219-1221)gcC>gcT	p.A407A	TRPM8_ENST00000433712.2_Silent_p.A95A|AC005538.5_ENST00000455991.1_RNA	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	407					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGAGCAATGCCATCTCCTACG	0.368																																						uc002vvh.2		NA																	0				skin(4)	4						c.(1219-1221)GCC>GCT		transient receptor potential cation channel,	Menthol(DB00825)						66.0	66.0	66.0					2																	234862641		2203	4300	6503	SO:0001819	synonymous_variant	79054					integral to membrane		g.chr2:234862641C>T	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1221C>T	2.37:g.234862641C>T						TRPM8_uc010fyj.2_Silent_p.A95A	p.A407A	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	10	1261	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	407			Cytoplasmic (Potential).		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	c.1221C>T	CCDS33407.1																																																																																				0.368	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		24	8	0	0	0	0	24	8				
ING5	84289	broad.mit.edu	37	2	242648716	242648716	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr2:242648716G>T	ENST00000313552.6	+	3	221	c.195G>T	c.(193-195)ctG>ctT	p.L65L	ING5_ENST00000482774.1_3'UTR|ING5_ENST00000406941.1_Silent_p.L65L	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	65					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TGGAGCGCCTGCAGAAGATCC	0.567																																						uc002wcd.2		NA																	0					0						c.(193-195)CTG>CTT		inhibitor of growth family, member 5							129.0	128.0	128.0					2																	242648716		2203	4296	6499	SO:0001819	synonymous_variant	84289				DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr2:242648716G>T	AF189286	CCDS33425.1	2q37.3	2013-01-28			ENSG00000168395	ENSG00000168395		"""Zinc fingers, PHD-type"""	19421	protein-coding gene	gene with protein product		608525				12750254	Standard	NM_032329		Approved	FLJ23842, p28ING5	uc002wcd.3	Q8WYH8	OTTHUMG00000151501	ENST00000313552.6:c.195G>T	2.37:g.242648716G>T						ING5_uc002wcc.1_Silent_p.L65L	p.L65L	NM_032329	NP_115705	Q8WYH8	ING5_HUMAN		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	3	220	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	65					A8K1P3|Q53NU6|Q57Z54|Q9BS30	Silent	SNP	ENST00000313552.6	37	c.195G>T	CCDS33425.1																																																																																				0.567	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322901.3	NM_032329		58	206	1	0	4.17e-28	7.85e-28	58	206				
SIGLEC1	6614	broad.mit.edu	37	20	3675353	3675353	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:3675353T>A	ENST00000344754.4	-	11	2900	c.2901A>T	c.(2899-2901)tcA>tcT	p.S967S	SIGLEC1_ENST00000202578.4_Silent_p.S967S	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	967	Ig-like C2-type 9.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TCGTGGTGGCTGAGCCTGGGG	0.622																																						uc002wja.2		NA																	0				pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						c.(2899-2901)TCA>TCT		sialoadhesin precursor							62.0	57.0	59.0					20																	3675353		2203	4300	6503	SO:0001819	synonymous_variant	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3675353T>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.2901A>T	20.37:g.3675353T>A						SIGLEC1_uc002wjb.1_5'Flank|SIGLEC1_uc002wiz.3_Silent_p.S967S	p.S967S	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			11	2901	-			967			Ig-like C2-type 9.|Extracellular (Potential).		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	c.2901A>T	CCDS13060.1																																																																																				0.622	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		15	60	0	0	0	0	15	60				
SIGLEC1	6614	broad.mit.edu	37	20	3677790	3677790	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:3677790G>A	ENST00000344754.4	-	9	2321	c.2322C>T	c.(2320-2322)tgC>tgT	p.C774C	SIGLEC1_ENST00000202578.4_Silent_p.C774C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	774	Ig-like C2-type 7.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TCAGGATGCGGCAGGCGTAAA	0.637																																						uc002wja.2		NA																	0				pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						c.(2320-2322)TGC>TGT		sialoadhesin precursor							63.0	62.0	62.0					20																	3677790		2203	4300	6503	SO:0001819	synonymous_variant	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3677790G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.2322C>T	20.37:g.3677790G>A						SIGLEC1_uc002wiz.3_Silent_p.C774C	p.C774C	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			9	2322	-			774			Ig-like C2-type 7.|Extracellular (Potential).		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	c.2322C>T	CCDS13060.1																																																																																				0.637	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		23	62	0	0	0	0	23	62				
LRRN4	164312	broad.mit.edu	37	20	6021815	6021815	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:6021815G>T	ENST00000378858.4	-	5	2300	c.2076C>A	c.(2074-2076)ggC>ggA	p.G692G		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	692					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CGAGCAACAGGCCGCTGGCGG	0.697																																						uc002wmo.2		NA																	0				skin(3)	3						c.(2074-2076)GGC>GGA		leucine rich repeat neuronal 4 precursor							11.0	11.0	11.0					20																	6021815		2192	4276	6468	SO:0001819	synonymous_variant	164312					integral to membrane		g.chr20:6021815G>T	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.2076C>A	20.37:g.6021815G>T							p.G692G	NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN			5	2300	-			692			Helical; (Potential).		A8K258|Q5JWV6|Q9H419	Silent	SNP	ENST00000378858.4	37	c.2076C>A	CCDS13097.1																																																																																				0.697	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		4	17	1	0	2.56e-06	3.84e-06	4	17				
JAG1	182	broad.mit.edu	37	20	10653648	10653648	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:10653648C>A	ENST00000254958.5	-	2	603	c.88G>T	c.(88-90)Ggg>Tgg	p.G30W	RP11-103J8.1_ENST00000605292.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	30					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CCCGAGGCCCCACACACCTGC	0.647									Alagille Syndrome																													uc002wnw.2		NA																	0				lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(88-90)GGG>TGG		jagged 1 precursor							26.0	30.0	28.0					20																	10653648		2203	4300	6503	SO:0001583	missense	182	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10653648C>A	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.88G>T	20.37:g.10653648C>A	ENSP00000254958:p.Gly30Trp						p.G30W	NM_000214	NP_000205	P78504	JAG1_HUMAN			2	604	-			30					A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	c.88G>T	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712687	0.48517	.	.	ENSG00000101384	ENST00000254958	D	0.85773	-2.03	5.6	2.25	0.28309	.	0.638837	0.17377	N	0.176441	T	0.71702	0.3371	N	0.08118	0	0.20307	N	0.999912	P	0.34955	0.477	B	0.42188	0.379	T	0.63782	-0.6559	10	0.62326	D	0.03	.	4.2518	0.10698	0.5322:0.2777:0.1085:0.0816	.	30	P78504	JAG1_HUMAN	W	30	ENSP00000254958:G30W	ENSP00000254958:G30W	G	-	1	0	JAG1	10601648	0.948000	0.32251	1.000000	0.80357	0.973000	0.67179	0.576000	0.23744	0.673000	0.31224	0.462000	0.41574	GGG		0.647	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		9	61	1	0	3.86e-05	5.58e-05	9	61				
NDUFAF5	79133	broad.mit.edu	37	20	13789488	13789488	+	Splice_Site	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:13789488G>A	ENST00000378106.5	+	8	837	c.718G>A	c.(718-720)Gac>Aac	p.D240N	NDUFAF5_ENST00000463598.1_Splice_Site_p.D212N|NDUFAF5_ENST00000475968.1_3'UTR	NM_024120.4	NP_077025.2	Q5TEU4	NDUF5_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5	240					mitochondrial respiratory chain complex I assembly (GO:0032981)	extrinsic component of mitochondrial inner membrane (GO:0031314)	methyltransferase activity (GO:0008168)										TTTTAAATAGGACACTGATGA	0.338																																						uc002wom.2		NA																	0					0						c.(718-720)GAC>AAC		hypothetical protein LOC79133 isoform 1							51.0	55.0	54.0					20																	13789488		2203	4300	6503	SO:0001630	splice_region_variant	79133				mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity	g.chr20:13789488G>A		CCDS13118.1, CCDS33441.1	20p12.1	2012-10-12	2012-05-08	2012-05-08	ENSG00000101247	ENSG00000101247		"""Mitochondrial respiratory chain complex assembly factors"""	15899	protein-coding gene	gene with protein product		612360	"""chromosome 20 open reading frame 7"""	C20orf7		18940309, 21607760	Standard	NM_024120		Approved	dJ842G6.1	uc002wom.3	Q5TEU4	OTTHUMG00000031909	ENST00000378106.5:c.718-1G>A	20.37:g.13789488G>A						C20orf7_uc002won.2_Missense_Mutation_p.D212N|C20orf7_uc002woo.2_RNA	p.D240N	NM_024120	NP_077025	Q5TEU4	CT007_HUMAN			8	751	+		Myeloproliferative disorder(85;0.00878)	240					A8K166|Q6GPH3|Q9H6F4	Missense_Mutation	SNP	ENST00000378106.5	37	c.718G>A	CCDS13118.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682183	0.88542	.	.	ENSG00000101247	ENST00000378106;ENST00000536501;ENST00000463598	D;D	0.84660	-1.88;-1.88	5.5	5.5	0.81552	.	0.114505	0.64402	D	0.000007	D	0.96030	0.8707	H	0.99042	4.41	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.991	D	0.97724	1.0198	9	.	.	.	-33.0526	19.394	0.94598	0.0:0.0:1.0:0.0	.	212;240	Q5TEU4-2;Q5TEU4	.;CT007_HUMAN	N	240;240;212	ENSP00000367346:D240N;ENSP00000420497:D212N	.	D	+	1	0	C20orf7	13737488	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.290000	0.78711	2.576000	0.86940	0.650000	0.86243	GAC		0.338	NDUFAF5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078057.2	NM_001039375	Missense_Mutation	18	25	0	0	0	0	18	25				
SEL1L2	80343	broad.mit.edu	37	20	13840045	13840045	+	Missense_Mutation	SNP	G	G	T	rs200813550		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:13840045G>T	ENST00000284951.5	-	18	1755	c.1681C>A	c.(1681-1683)Cat>Aat	p.H561N	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Intron			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	561						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						CCATAGTAATGGTAATCTCCA	0.368																																						uc010gcf.2		NA																	0				ovary(2)	2						c.(1681-1683)CAT>AAT		sel-1 suppressor of lin-12-like 2 precursor							134.0	120.0	125.0					20																	13840045		1995	4178	6173	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13840045G>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.1681C>A	20.37:g.13840045G>T	ENSP00000284951:p.His561Asn					SEL1L2_uc002woq.3_Missense_Mutation_p.H422N|SEL1L2_uc010zrl.1_Intron|SEL1L2_uc002wor.2_RNA	p.H561N	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			18	1763	-			561			Extracellular (Potential).|Sel1-like 10.		B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1681C>A		.	.	.	.	.	.	.	.	.	.	G	17.44	3.389086	0.61956	.	.	ENSG00000101251	ENST00000284951	T	0.54866	0.55	5.5	2.52	0.30459	Tetratricopeptide-like helical (1);	0.467445	0.20902	N	0.083629	T	0.55924	0.1951	L	0.60455	1.87	0.41016	D	0.985049	D	0.53619	0.961	P	0.51974	0.686	T	0.58126	-0.7691	10	0.87932	D	0	-9.6825	8.518	0.33257	0.2516:0.0:0.7484:0.0	.	561	Q5TEA6	SE1L2_HUMAN	N	561	ENSP00000284951:H561N	ENSP00000284951:H561N	H	-	1	0	SEL1L2	13788045	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.254000	0.58798	0.711000	0.32018	-0.119000	0.15052	CAT		0.368	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		6	39	1	0	8.13e-05	0.000116264	6	39				
SEL1L2	80343	broad.mit.edu	37	20	13868451	13868451	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:13868451C>T	ENST00000284951.5	-	8	783	c.709G>A	c.(709-711)Gtt>Att	p.V237I	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.V237I			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	237						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						CTTAGGGCAACTTCACAATTC	0.308																																						uc010gcf.2		NA																	0				ovary(2)	2						c.(709-711)GTT>ATT		sel-1 suppressor of lin-12-like 2 precursor							130.0	125.0	127.0					20																	13868451		1821	4072	5893	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13868451C>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.709G>A	20.37:g.13868451C>T	ENSP00000284951:p.Val237Ile					SEL1L2_uc002woq.3_Missense_Mutation_p.V98I|SEL1L2_uc010zrl.1_Missense_Mutation_p.V237I|SEL1L2_uc002wor.2_RNA	p.V237I	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			8	791	-			237			Sel1-like 4.|Extracellular (Potential).		B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.709G>A		.	.	.	.	.	.	.	.	.	.	C	12.34	1.907575	0.33721	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.50813	0.73;0.73	5.69	2.71	0.32032	Tetratricopeptide-like helical (1);	0.110899	0.40302	N	0.001135	T	0.36853	0.0982	L	0.45137	1.4	0.27931	N	0.937877	B;B	0.19073	0.033;0.026	B;B	0.20184	0.028;0.015	T	0.29027	-1.0025	10	0.45353	T	0.12	-8.7046	8.1422	0.31091	0.0:0.7434:0.0:0.2566	.	237;237	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	I	237	ENSP00000367312:V237I;ENSP00000284951:V237I	ENSP00000284951:V237I	V	-	1	0	SEL1L2	13816451	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.322000	0.33689	0.766000	0.33244	-0.142000	0.14014	GTT		0.308	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		24	115	0	0	0	0	24	115				
BFSP1	631	broad.mit.edu	37	20	17492691	17492691	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:17492691T>C	ENST00000377873.3	-	4	596	c.557A>G	c.(556-558)tAt>tGt	p.Y186C	BFSP1_ENST00000377868.2_Missense_Mutation_p.Y61C|BFSP1_ENST00000473415.1_5'UTR|BFSP1_ENST00000544874.1_Missense_Mutation_p.Y47C|BFSP1_ENST00000536626.1_Missense_Mutation_p.Y47C	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	186	Linker 12.|Rod.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						GATGCTGATATAGGTCTGAAC	0.463																																						uc002wpo.2		NA																	0				central_nervous_system(1)	1						c.(556-558)TAT>TGT		filensin isoform 1							149.0	113.0	125.0					20																	17492691		2203	4300	6503	SO:0001583	missense	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17492691T>C	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.557A>G	20.37:g.17492691T>C	ENSP00000367104:p.Tyr186Cys					BFSP1_uc002wpp.2_Missense_Mutation_p.Y61C|BFSP1_uc010zrn.1_Missense_Mutation_p.Y47C|BFSP1_uc010zro.1_Missense_Mutation_p.Y47C	p.Y186C	NM_001195	NP_001186	Q12934	BFSP1_HUMAN			4	596	-			186			Rod.|Linker 12.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	ENST00000377873.3	37	c.557A>G	CCDS13126.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.791987	0.70452	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	D;T;T;T	0.88664	-2.41;0.4;0.39;0.39	5.09	5.09	0.68999	Filament (1);	0.000000	0.85682	D	0.000000	D	0.92721	0.7686	L	0.59436	1.845	0.52501	D	0.999951	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93356	0.6722	10	0.87932	D	0	-11.1148	13.131	0.59382	0.0:0.0:0.0:1.0	.	61;186	Q12934-2;Q12934	.;BFSP1_HUMAN	C	186;61;47;47	ENSP00000367104:Y186C;ENSP00000367099:Y61C;ENSP00000442522:Y47C;ENSP00000439870:Y47C	ENSP00000367099:Y61C	Y	-	2	0	BFSP1	17440691	1.000000	0.71417	0.904000	0.35570	0.960000	0.62799	5.754000	0.68743	2.044000	0.60594	0.459000	0.35465	TAT		0.463	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		34	41	0	0	0	0	34	41				
ZNF133	7692	broad.mit.edu	37	20	18296949	18296949	+	Missense_Mutation	SNP	A	A	G	rs544778156		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:18296949A>G	ENST00000316358.4	+	4	1551	c.1454A>G	c.(1453-1455)cAg>cGg	p.Q485R	ZNF133_ENST00000462170.1_3'UTR|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000401790.1_Missense_Mutation_p.Q485R|ZNF133_ENST00000535822.1_Missense_Mutation_p.Q390R|ZNF133_ENST00000538547.1_Missense_Mutation_p.Q390R|ZNF133_ENST00000396026.3_Missense_Mutation_p.Q488R|ZNF133_ENST00000402618.2_Missense_Mutation_p.Q422R|ZNF133_ENST00000377671.3_Missense_Mutation_p.Q484R	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	485					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)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						ATCAGACACCAGAGGACGCAC	0.582													A|||	1	0.000199681	0.0	0.0	5008	,	,		20115	0.0		0.0	False		,,,				2504	0.001					uc010gcq.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1453-1455)CAG>CGG		zinc finger protein 133							55.0	53.0	54.0					20																	18296949		2203	4300	6503	SO:0001583	missense	7692					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:18296949A>G	AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.1454A>G	20.37:g.18296949A>G	ENSP00000346090:p.Gln485Arg					ZNF133_uc010zrv.1_Missense_Mutation_p.Q488R|ZNF133_uc010zrw.1_Missense_Mutation_p.Q422R|ZNF133_uc010gcr.2_Missense_Mutation_p.Q485R|ZNF133_uc010zrx.1_Missense_Mutation_p.Q390R|ZNF133_uc002wql.3_Missense_Mutation_p.Q484R|ZNF133_uc010gcs.2_Missense_Mutation_p.Q484R|ZNF133_uc010zry.1_Missense_Mutation_p.Q390R|ZNF133_uc002wqm.2_Missense_Mutation_p.Q485R	p.Q485R	NM_003434	NP_003425	P52736	ZN133_HUMAN			5	1759	+			485			C2H2-type 10.		A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Missense_Mutation	SNP	ENST00000316358.4	37	c.1454A>G		.	.	.	.	.	.	.	.	.	.	A	15.33	2.802783	0.50315	.	.	ENSG00000125846	ENST00000377671;ENST00000396026;ENST00000402618;ENST00000401790;ENST00000538547;ENST00000535822;ENST00000316358	T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63	4.44	4.44	0.53790	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47093	D	0.000259	T	0.51941	0.1704	L	0.33710	1.025	0.23277	N	0.997996	D;D;P;P	0.76494	0.999;0.998;0.95;0.931	D;D;P;P	0.75020	0.985;0.976;0.785;0.568	T	0.39961	-0.9588	10	0.59425	D	0.04	-31.4649	6.8174	0.23839	0.899:0.0:0.101:0.0	.	422;488;485;484	B4DIB8;B4DHU7;P52736;P52736-2	.;.;ZN133_HUMAN;.	R	484;488;422;485;390;390;485	ENSP00000366899:Q484R;ENSP00000400897:Q488R;ENSP00000385279:Q422R;ENSP00000383945:Q485R;ENSP00000442978:Q390R;ENSP00000439427:Q390R;ENSP00000346090:Q485R	ENSP00000346090:Q485R	Q	+	2	0	ZNF133	18244949	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.233000	0.32648	2.231000	0.72958	0.454000	0.30748	CAG		0.582	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	NM_003434		21	55	0	0	0	0	21	55				
ZNF133	7692	broad.mit.edu	37	20	18297420	18297420	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:18297420C>T	ENST00000316358.4	+	4	2022	c.1925C>T	c.(1924-1926)cCg>cTg	p.P642L	ZNF133_ENST00000462170.1_3'UTR|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000401790.1_Missense_Mutation_p.P642L|ZNF133_ENST00000535822.1_Missense_Mutation_p.P547L|ZNF133_ENST00000538547.1_Missense_Mutation_p.P547L|ZNF133_ENST00000396026.3_Missense_Mutation_p.P645L|ZNF133_ENST00000402618.2_Missense_Mutation_p.P579L|ZNF133_ENST00000377671.3_Missense_Mutation_p.P641L	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	642					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)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GACCCTGAGCCGTGTGCAGGG	0.537																																						uc010gcq.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1924-1926)CCG>CTG		zinc finger protein 133							56.0	56.0	56.0					20																	18297420		2203	4300	6503	SO:0001583	missense	7692					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:18297420C>T	AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.1925C>T	20.37:g.18297420C>T	ENSP00000346090:p.Pro642Leu					ZNF133_uc010zrv.1_Missense_Mutation_p.P645L|ZNF133_uc010zrw.1_Missense_Mutation_p.P579L|ZNF133_uc010gcr.2_Missense_Mutation_p.P642L|ZNF133_uc010zrx.1_Missense_Mutation_p.P547L|ZNF133_uc002wql.3_Missense_Mutation_p.P641L|ZNF133_uc010gcs.2_Missense_Mutation_p.P641L|ZNF133_uc010zry.1_Missense_Mutation_p.P547L|ZNF133_uc002wqm.2_Missense_Mutation_p.P642L	p.P642L	NM_003434	NP_003425	P52736	ZN133_HUMAN			5	2230	+			642					A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Missense_Mutation	SNP	ENST00000316358.4	37	c.1925C>T		.	.	.	.	.	.	.	.	.	.	C	3.369	-0.128861	0.06753	.	.	ENSG00000125846	ENST00000377671;ENST00000396026;ENST00000402618;ENST00000401790;ENST00000538547;ENST00000535822;ENST00000316358	T;T;T;T;T;T;T	0.07216	3.39;3.35;3.21;3.35;3.25;3.25;3.35	4.04	3.07	0.35406	.	0.926063	0.08865	N	0.882369	T	0.05731	0.0150	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.09022	0.002;0.001;0.002;0.001	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.36866	-0.9730	10	0.30078	T	0.28	0.0719	9.1359	0.36875	0.2173:0.7827:0.0:0.0	.	579;645;642;641	B4DIB8;B4DHU7;P52736;P52736-2	.;.;ZN133_HUMAN;.	L	641;645;579;642;547;547;642	ENSP00000366899:P641L;ENSP00000400897:P645L;ENSP00000385279:P579L;ENSP00000383945:P642L;ENSP00000442978:P547L;ENSP00000439427:P547L;ENSP00000346090:P642L	ENSP00000346090:P642L	P	+	2	0	ZNF133	18245420	0.003000	0.15002	0.003000	0.11579	0.001000	0.01503	1.575000	0.36493	1.277000	0.44412	0.655000	0.94253	CCG		0.537	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	NM_003434		23	89	0	0	0	0	23	89				
VSX1	30813	broad.mit.edu	37	20	25057164	25057164	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:25057164C>A	ENST00000376709.4	-	5	1094	c.831G>T	c.(829-831)ggG>ggT	p.G277G	VSX1_ENST00000424574.1_Intron|VSX1_ENST00000429762.3_Intron|VSX1_ENST00000451258.1_Intron|VSX1_ENST00000444511.2_Intron	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	277	CVC. {ECO:0000255|PROSITE- ProRule:PRU00829}.				neuron maturation (GO:0042551)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(3)|lung(2)	6						TCCTTATCATCCCCATGGATT	0.353																																						uc002wuf.2		NA																	0					0						c.(829-831)GGG>GGT		visual system homeobox 1 isoform a							82.0	90.0	88.0					20																	25057164		2203	4300	6503	SO:0001819	synonymous_variant	30813				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:25057164C>A	AF176797	CCDS13168.1, CCDS13169.1, CCDS58766.1, CCDS58767.1	20p11.21	2014-02-14	2007-07-12		ENSG00000100987	ENSG00000100987		"""Homeoboxes / PRD class"""	12723	protein-coding gene	gene with protein product		605020	"""posterior polymorphous corneal dystrophy"", ""visual system homeobox 1 homolog, CHX10-like (zebrafish)"""	PPCD		10673340	Standard	NM_001256272		Approved	PPD, PPCD1	uc002wuf.4	Q9NZR4	OTTHUMG00000032111	ENST00000376709.4:c.831G>T	20.37:g.25057164C>A						VSX1_uc002wue.2_Intron|VSX1_uc010gdd.1_Intron|VSX1_uc010gde.1_Intron|VSX1_uc010gdf.1_Intron	p.G277G	NM_014588	NP_055403	Q9NZR4	VSX1_HUMAN			5	866	-			277			CVC.		B9EGJ4|D1MF28|Q0GM60|Q0GM61|Q0GM62|Q0GM63|Q0GM64|Q0GM65|Q5TF40|Q5TF41|Q9HCU3|Q9NU27	Silent	SNP	ENST00000376709.4	37	c.831G>T	CCDS13168.1																																																																																				0.353	VSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078384.3			25	109	1	0	3.01e-09	4.88e-09	25	109				
REM1	28954	broad.mit.edu	37	20	30065673	30065673	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:30065673C>A	ENST00000201979.2	+	3	676	c.383C>A	c.(382-384)aCc>aAc	p.T128N	DEFB124_ENST00000481595.1_5'Flank	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	128					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GGAGAAGACACCACACTGGTG	0.562																																						uc002wwa.2		NA																	0				lung(2)|pancreas(2)	4						c.(382-384)ACC>AAC		RAS-like GTP-binding protein REM							98.0	75.0	83.0					20																	30065673		2203	4300	6503	SO:0001583	missense	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30065673C>A	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.383C>A	20.37:g.30065673C>A	ENSP00000201979:p.Thr128Asn						p.T128N	NM_014012	NP_054731	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		3	667	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		128					E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	37	c.383C>A	CCDS13181.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654596	0.67472	.	.	ENSG00000088320	ENST00000201979	T	0.77229	-1.08	4.5	3.48	0.39840	Small GTP-binding protein domain (1);	0.128304	0.51477	D	0.000097	D	0.84942	0.5584	M	0.76574	2.34	0.53688	D	0.999973	P	0.45768	0.866	P	0.60068	0.868	D	0.86385	0.1732	10	0.72032	D	0.01	.	11.976	0.53091	0.0:0.9011:0.0:0.0989	.	128	O75628	REM1_HUMAN	N	128	ENSP00000201979:T128N	ENSP00000201979:T128N	T	+	2	0	REM1	29529334	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.366000	0.59492	2.329000	0.79093	0.563000	0.77884	ACC		0.562	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		9	24	1	0	0.000673444	0.000936605	9	24				
BPIFA1	51297	broad.mit.edu	37	20	31825963	31825963	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:31825963T>A	ENST00000354297.4	+	3	334	c.263T>A	c.(262-264)cTt>cAt	p.L88H	BPIFA1_ENST00000375422.2_Missense_Mutation_p.L88H|BPIFA1_ENST00000375413.4_Missense_Mutation_p.L88H	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	88					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										GGTGGCCTCCTTGGGGGACTG	0.537																																						uc002wyv.2		NA																	0					0						c.(262-264)CTT>CAT		palate, lung and nasal epithelium associated							80.0	76.0	77.0					20																	31825963		2203	4300	6503	SO:0001583	missense	51297				innate immune response	extracellular region	lipid binding	g.chr20:31825963T>A	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"""BPI fold containing"""	15749	protein-coding gene	gene with protein product		607412	"""palate, lung and nasal epithelium carcinoma associated"", ""palate, lung and nasal epithelium associated"""	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.263T>A	20.37:g.31825963T>A	ENSP00000346251:p.Leu88His					PLUNC_uc002wyt.3_Missense_Mutation_p.L88H|PLUNC_uc002wyu.3_Missense_Mutation_p.L88H	p.L88H	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN			3	333	+			88					A8K9R3|E1P5M9|Q9NZT0	Missense_Mutation	SNP	ENST00000354297.4	37	c.263T>A	CCDS13217.1	.	.	.	.	.	.	.	.	.	.	T	11.56	1.674530	0.29693	.	.	ENSG00000198183	ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328	T;T;T	0.18174	2.23;2.23;2.23	5.54	3.24	0.37175	.	1.094750	0.07001	N	0.823376	T	0.21631	0.0521	M	0.65975	2.015	0.09310	N	0.999996	B	0.18013	0.025	B	0.23018	0.043	T	0.31724	-0.9933	10	0.52906	T	0.07	-0.7481	6.3541	0.21393	0.1577:0.0:0.1653:0.677	.	88	Q9NP55	BPIA1_HUMAN	H	88;88;88;74	ENSP00000364571:L88H;ENSP00000346251:L88H;ENSP00000364562:L88H	ENSP00000346251:L88H	L	+	2	0	BPIFA1	31289624	0.457000	0.25752	0.333000	0.25482	0.089000	0.18198	0.818000	0.27295	0.501000	0.28013	-0.336000	0.08194	CTT		0.537	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852		25	97	0	0	0	0	25	97				
ITCH	83737	broad.mit.edu	37	20	33033227	33033227	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:33033227A>T	ENST00000262650.6	+	12	1360	c.1224A>T	c.(1222-1224)caA>caT	p.Q408H	ITCH_ENST00000535650.1_Missense_Mutation_p.Q257H|ITCH_ENST00000374864.4_Missense_Mutation_p.Q367H|ITCH_ENST00000483727.1_3'UTR			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	408	Required for interaction with FYN.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GTCAGCTTCAAGGAGCAATGC	0.433																																						uc010geu.1		NA																	0				breast(4)|lung(1)|central_nervous_system(1)	6						c.(1222-1224)CAA>CAT		itchy homolog E3 ubiquitin protein ligase							127.0	112.0	117.0					20																	33033227		2203	4300	6503	SO:0001583	missense	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33033227A>T	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1224A>T	20.37:g.33033227A>T	ENSP00000262650:p.Gln408His					ITCH_uc002xak.2_Missense_Mutation_p.Q367H|ITCH_uc010zuj.1_Missense_Mutation_p.Q257H	p.Q408H	NM_031483	NP_113671	Q96J02	ITCH_HUMAN			12	1416	+			408			Required for interaction with FYN.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	37	c.1224A>T	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.241131	0.79912	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.34667	1.35;1.35;1.72	4.9	1.48	0.22813	.	0.127637	0.53938	D	0.000044	T	0.50752	0.1634	M	0.65975	2.015	0.58432	D	0.999997	D;D;B	0.57571	0.98;0.978;0.225	D;P;B	0.66979	0.948;0.862;0.127	T	0.44997	-0.9291	10	0.66056	D	0.02	.	7.8967	0.29710	0.7516:0.0:0.2484:0.0	.	319;408;367	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	H	367;257;408	ENSP00000363998:Q367H;ENSP00000445608:Q257H;ENSP00000262650:Q408H	ENSP00000262650:Q408H	Q	+	3	2	ITCH	32496888	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.802000	0.47916	0.078000	0.16900	0.519000	0.50382	CAA		0.433	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			8	55	0	0	0	0	8	55				
CHD6	84181	broad.mit.edu	37	20	40101970	40101970	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:40101970C>T	ENST00000373233.3	-	17	2833	c.2656G>A	c.(2656-2658)Gac>Aac	p.D886N	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	886	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ACCTGCAAGTCATTTTGTGGG	0.498																																						uc002xka.1		NA																	0				ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(2656-2658)GAC>AAC		chromodomain helicase DNA binding protein 6							96.0	90.0	92.0					20																	40101970		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40101970C>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.2656G>A	20.37:g.40101970C>T	ENSP00000362330:p.Asp886Asn					CHD6_uc002xkd.2_Missense_Mutation_p.D864N	p.D886N	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			17	2834	-		Myeloproliferative disorder(115;0.00425)	886			Helicase C-terminal.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.2656G>A	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	36	5.827184	0.96996	.	.	ENSG00000124177	ENST00000373233	T	0.75477	-0.94	5.62	5.62	0.85841	Helicase, C-terminal (3);	0.193031	0.36519	N	0.002552	D	0.90456	0.7011	H	0.96518	3.835	0.80722	D	1	P	0.42735	0.788	P	0.58210	0.835	D	0.92429	0.5952	10	0.87932	D	0	-13.1738	19.7337	0.96193	0.0:1.0:0.0:0.0	.	886	Q8TD26	CHD6_HUMAN	N	886	ENSP00000362330:D886N	ENSP00000362330:D886N	D	-	1	0	CHD6	39535384	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.750000	0.85110	2.669000	0.90835	0.644000	0.83932	GAC		0.498	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			6	52	0	0	0	0	6	52				
RIMS4	140730	broad.mit.edu	37	20	43399968	43399968	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:43399968C>G	ENST00000372851.3	-	2	250	c.184G>C	c.(184-186)Gcc>Ccc	p.A62P	RIMS4_ENST00000541604.2_Missense_Mutation_p.A63P	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	62					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TCGTGGCTGGCCTGGCGCAGT	0.627																																						uc002xms.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(184-186)GCC>CCC		regulating synaptic membrane exocytosis 4							85.0	66.0	73.0					20																	43399968		2203	4300	6503	SO:0001583	missense	140730				exocytosis|neurotransmitter transport	cell junction|synapse		g.chr20:43399968C>G		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.184G>C	20.37:g.43399968C>G	ENSP00000361942:p.Ala62Pro					RIMS4_uc010ggu.2_Missense_Mutation_p.A63P	p.A62P	NM_182970	NP_892015	Q9H426	RIMS4_HUMAN			2	184	-		Myeloproliferative disorder(115;0.0122)	62					A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.184G>C	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.930653	0.34096	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.21932	1.98;1.99	4.16	3.21	0.36854	.	0.050473	0.85682	D	0.000000	T	0.13927	0.0337	L	0.34521	1.04	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.06445	-1.0826	10	0.08179	T	0.78	.	12.0786	0.53657	0.0:0.9144:0.0:0.0856	.	63;62	E1P613;Q9H426	.;RIMS4_HUMAN	P	62;63	ENSP00000361942:A62P;ENSP00000439287:A63P	ENSP00000361942:A62P	A	-	1	0	RIMS4	42833382	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.980000	0.56895	0.869000	0.35703	0.551000	0.68910	GCC		0.627	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		15	89	0	0	0	0	15	89				
PREX1	57580	broad.mit.edu	37	20	47246080	47246080	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:47246080C>T	ENST00000371941.3	-	37	4695	c.4673G>A	c.(4672-4674)gGg>gAg	p.G1558E	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1558					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCCCACACTCCCAGCAGCACC	0.622																																						uc002xtw.1		NA																	0				lung(3)|ovary(2)|pancreas(1)	6						c.(4672-4674)GGG>GAG		phosphatidylinositol-3,4,							78.0	81.0	80.0					20																	47246080		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47246080C>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4673G>A	20.37:g.47246080C>T	ENSP00000361009:p.Gly1558Glu					PREX1_uc002xtv.1_Missense_Mutation_p.G855E	p.G1558E	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		37	4696	-			1558					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.4673G>A	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.428129	0.25726	.	.	ENSG00000124126	ENST00000371941	T	0.61158	0.13	3.95	0.571	0.17352	.	0.387663	0.20578	U	0.089598	T	0.52869	0.1761	L	0.29908	0.895	0.09310	N	1	P;D	0.52996	0.923;0.957	P;P	0.61397	0.675;0.888	T	0.38001	-0.9681	10	0.87932	D	0	.	2.265	0.04077	0.1573:0.198:0.462:0.1827	.	1558;855	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	E	1558	ENSP00000361009:G1558E	ENSP00000361009:G1558E	G	-	2	0	PREX1	46679487	0.289000	0.24334	0.084000	0.20598	0.053000	0.15095	1.001000	0.29783	0.766000	0.33244	0.462000	0.41574	GGG		0.622	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		26	108	0	0	0	0	26	108				
ADNP	23394	broad.mit.edu	37	20	49508160	49508160	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:49508160T>A	ENST00000396029.3	-	5	3658	c.3091A>T	c.(3091-3093)Agt>Tgt	p.S1031C	ADNP_ENST00000396032.3_Missense_Mutation_p.S1031C|ADNP_ENST00000371602.4_Missense_Mutation_p.S1031C|ADNP_ENST00000349014.3_Missense_Mutation_p.S1031C	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	1031					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CCATAGGAACTATTCTTCCAT	0.458																																						uc002xvt.1		NA																	0				ovary(2)	2						c.(3091-3093)AGT>TGT		activity-dependent neuroprotector							140.0	135.0	137.0					20																	49508160		2203	4300	6503	SO:0001583	missense	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49508160T>A	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.3091A>T	20.37:g.49508160T>A	ENSP00000379346:p.Ser1031Cys					ADNP_uc002xvu.1_Missense_Mutation_p.S1031C	p.S1031C	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN			5	3436	-			1031					E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	c.3091A>T	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	T	11.83	1.755806	0.31046	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.17	6.17	0.99709	.	0.109014	0.64402	D	0.000006	T	0.32704	0.0838	N	0.14661	0.345	0.35529	D	0.802099	P	0.51653	0.947	B	0.40741	0.339	T	0.51364	-0.8715	9	0.72032	D	0.01	-17.5244	13.4359	0.61084	0.0:0.0:0.1388:0.8612	.	1031	Q9H2P0	ADNP_HUMAN	C	1031	.	ENSP00000342905:S1031C	S	-	1	0	ADNP	48941567	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.038000	0.57318	2.371000	0.80710	0.533000	0.62120	AGT		0.458	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		31	120	0	0	0	0	31	120				
ZNF831	128611	broad.mit.edu	37	20	57829617	57829617	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:57829617C>G	ENST00000371030.2	+	5	4853	c.4853C>G	c.(4852-4854)tCt>tGt	p.S1618C		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1618							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGTCAGGTATCTGGATTAATC	0.488																																						uc002yan.2		NA																	0				skin(13)|ovary(1)	14						c.(4852-4854)TCT>TGT		zinc finger protein 831							77.0	75.0	76.0					20																	57829617		1885	4119	6004	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57829617C>G	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4853C>G	20.37:g.57829617C>G	ENSP00000360069:p.Ser1618Cys						p.S1618C	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			5	4853	+	all_lung(29;0.0085)		1618					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.4853C>G	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574637	0.45902	.	.	ENSG00000124203	ENST00000371030	T	0.05199	3.48	5.13	4.16	0.48862	.	1.431730	0.04558	N	0.391100	T	0.20618	0.0496	L	0.57536	1.79	0.09310	N	1	D	0.76494	0.999	P	0.59703	0.862	T	0.14783	-1.0460	10	0.72032	D	0.01	-0.3526	10.47	0.44631	0.2016:0.7984:0.0:0.0	.	1618	Q5JPB2	ZN831_HUMAN	C	1618	ENSP00000360069:S1618C	ENSP00000360069:S1618C	S	+	2	0	ZNF831	57263012	0.000000	0.05858	0.010000	0.14722	0.011000	0.07611	0.530000	0.23036	1.336000	0.45506	0.650000	0.86243	TCT		0.488	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		21	98	0	0	0	0	21	98				
CDH4	1002	broad.mit.edu	37	20	60511804	60511804	+	Missense_Mutation	SNP	G	G	T	rs373341715		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:60511804G>T	ENST00000360469.5	+	16	2642	c.2554G>T	c.(2554-2556)Gct>Tct	p.A852S	CDH4_ENST00000543233.1_Missense_Mutation_p.A778S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	852					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGGACTCCGCGCTGCTGACAA	0.642																																						uc002ybn.1		NA																	0				lung(3)|ovary(2)|skin(1)	6						c.(2554-2556)GCT>TCT		cadherin 4, type 1 preproprotein							44.0	43.0	44.0					20																	60511804		2201	4300	6501	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60511804G>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2554G>T	20.37:g.60511804G>T	ENSP00000353656:p.Ala852Ser					CDH4_uc002ybp.1_Missense_Mutation_p.A778S|uc002ybr.1_5'Flank	p.A852S	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		16	2568	+			852			Cytoplasmic (Potential).		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.2554G>T	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039994	0.55003	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.76839	-1.05;-1.05	4.49	3.54	0.40534	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.85741	0.5767	M	0.70903	2.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85170	0.0997	9	.	.	.	.	12.4917	0.55903	0.0825:0.0:0.9175:0.0	.	852	P55283	CADH4_HUMAN	S	852;760;778	ENSP00000353656:A852S;ENSP00000443301:A778S	.	A	+	1	0	CDH4	59945199	1.000000	0.71417	0.008000	0.14137	0.102000	0.19082	7.730000	0.84881	0.893000	0.36288	0.467000	0.42956	GCT		0.642	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		8	43	1	0	5.18e-06	7.72e-06	8	43				
TAF4	6874	broad.mit.edu	37	20	60574130	60574130	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:60574130C>A	ENST00000252996.4	-	12	2821	c.2822G>T	c.(2821-2823)cGg>cTg	p.R941L		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	941					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GAGCTGTGCCCGGACGTCACT	0.483																																						uc002ybs.2		NA																	0				ovary(2)|pancreas(1)	3						c.(2821-2823)CGG>CTG		TBP-associated factor 4							304.0	314.0	311.0					20																	60574130		2203	4300	6503	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60574130C>A	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2822G>T	20.37:g.60574130C>A	ENSP00000252996:p.Arg941Leu						p.R941L	NM_003185	NP_003176	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		12	2822	-	Breast(26;1e-08)		941					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.2822G>T	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945270	0.73672	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.44083	0.96;0.93	5.18	4.24	0.50183	Transcription initiation factor TFIID component TAF4 (1);	0.066036	0.64402	D	0.000010	T	0.63861	0.2547	M	0.79011	2.435	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.69161	-0.5218	10	0.87932	D	0	-18.7402	13.6761	0.62454	0.0:0.9247:0.0:0.0753	.	941	O00268	TAF4_HUMAN	L	941;805	ENSP00000252996:R941L;ENSP00000399091:R805L	ENSP00000252996:R941L	R	-	2	0	TAF4	60007525	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	7.259000	0.78381	1.187000	0.43000	0.561000	0.74099	CGG		0.483	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		108	467	1	0	2.21e-46	4.24e-46	108	467				
ABHD16B	140701	broad.mit.edu	37	20	62493624	62493624	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:62493624A>T	ENST00000369916.3	+	1	1059	c.731A>T	c.(730-732)tAc>tTc	p.Y244F	TPD52L2_ENST00000369927.4_5'Flank|C20ORF135_ENST00000601296.1_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	244							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						CTGGTGGTCTACGGCTGGTCT	0.677																																						uc002ygx.1		NA																	0					0						c.(730-732)TAC>TTC		hypothetical protein LOC140701							35.0	28.0	30.0					20																	62493624		2202	4296	6498	SO:0001583	missense	140701						hydrolase activity	g.chr20:62493624A>T		CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"""Abhydrolase domain containing"""	16128	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 135"""	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.731A>T	20.37:g.62493624A>T	ENSP00000358932:p.Tyr244Phe					TPD52L2_uc002ygy.2_5'Flank|TPD52L2_uc002ygz.2_5'Flank|TPD52L2_uc002yha.2_5'Flank|TPD52L2_uc002yhb.2_5'Flank|TPD52L2_uc002yhc.2_5'Flank|TPD52L2_uc002yhd.2_5'Flank|TPD52L2_uc011abk.1_5'Flank|TPD52L2_uc011abl.1_5'Flank	p.Y244F	NM_080622	NP_542189	Q9H3Z7	ABHGB_HUMAN			1	1059	+	all_cancers(38;1.77e-12)|all_epithelial(29;3.12e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)		244						Missense_Mutation	SNP	ENST00000369916.3	37	c.731A>T	CCDS13539.1	.	.	.	.	.	.	.	.	.	.	A	16.29	3.081680	0.55753	.	.	ENSG00000183260	ENST00000369916	T	0.40756	1.02	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000001	T	0.43700	0.1259	L	0.39020	1.185	0.58432	D	0.999996	P	0.41080	0.737	P	0.50754	0.649	T	0.19549	-1.0302	10	0.23302	T	0.38	-11.8508	12.4529	0.55686	1.0:0.0:0.0:0.0	.	244	Q9H3Z7	ABHGB_HUMAN	F	244	ENSP00000358932:Y244F	ENSP00000358932:Y244F	Y	+	2	0	ABHD16B	61964068	1.000000	0.71417	0.997000	0.53966	0.484000	0.33280	4.923000	0.63412	1.837000	0.53436	0.260000	0.18958	TAC		0.677	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080254.1			9	26	0	0	0	0	9	26				
BAGE2	85319	broad.mit.edu	37	21	11058282	11058282	+	RNA	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr21:11058282G>A	ENST00000470054.1	-	0	365							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCTCTTCACAGCATTTGATAG	0.403																																						uc002yit.1		NA																	0					0						c.(157-159)GCT>GTT		B melanoma antigen family, member 2 precursor							112.0	87.0	94.0					21																	11058282		692	1591	2283			85319							g.chr21:11058282G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058282G>A						BAGE_uc002yiw.1_RNA	p.A53V	NM_182482	NP_872288			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	3	366	-								A8K925|Q08ER0	Missense_Mutation	SNP	ENST00000470054.1	37	c.158C>T																																																																																					0.403	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	140	0	0	0	0	5	140				
GART	2618	broad.mit.edu	37	21	34878379	34878379	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr21:34878379G>T	ENST00000381831.3	-	19	2748	c.2485C>A	c.(2485-2487)Cgg>Agg	p.R829R	GART_ENST00000543717.1_Silent_p.R381R|GART_ENST00000381815.4_Silent_p.R829R|GART_ENST00000381839.3_Silent_p.R829R	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	829	GART.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TTTGGTTCCCGAGTACTGTCT	0.423																																						uc002yrx.2		NA																	0				ovary(1)	1						c.(2485-2487)CGG>AGG		phosphoribosylglycinamide formyltransferase,	Pemetrexed(DB00642)						110.0	102.0	105.0					21																	34878379		2203	4300	6503	SO:0001819	synonymous_variant	2618				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	g.chr21:34878379G>T	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.2485C>A	21.37:g.34878379G>T						GART_uc002yrz.2_Silent_p.R829R|GART_uc010gmd.2_Silent_p.R491R|GART_uc002yry.2_Silent_p.R829R	p.R829R	NM_000819	NP_000810	P22102	PUR2_HUMAN			19	2620	-			829			GART.		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Silent	SNP	ENST00000381831.3	37	c.2485C>A	CCDS13627.1																																																																																				0.423	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		45	49	1	0	1.42e-22	2.61e-22	45	49				
GART	2618	broad.mit.edu	37	21	34878381	34878381	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr21:34878381G>A	ENST00000381831.3	-	19	2746	c.2483C>T	c.(2482-2484)aCt>aTt	p.T828I	GART_ENST00000543717.1_Missense_Mutation_p.T380I|GART_ENST00000381815.4_Missense_Mutation_p.T828I|GART_ENST00000381839.3_Missense_Mutation_p.T828I	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	828	GART.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TGGTTCCCGAGTACTGTCTAT	0.423																																						uc002yrx.2		NA																	0				ovary(1)	1						c.(2482-2484)ACT>ATT		phosphoribosylglycinamide formyltransferase,	Pemetrexed(DB00642)						110.0	101.0	104.0					21																	34878381		2203	4300	6503	SO:0001583	missense	2618				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	g.chr21:34878381G>A	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.2483C>T	21.37:g.34878381G>A	ENSP00000371253:p.Thr828Ile					GART_uc002yrz.2_Missense_Mutation_p.T828I|GART_uc010gmd.2_Missense_Mutation_p.T490I|GART_uc002yry.2_Missense_Mutation_p.T828I	p.T828I	NM_000819	NP_000810	P22102	PUR2_HUMAN			19	2618	-			828			GART.		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	ENST00000381831.3	37	c.2483C>T	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.897758	0.72639	.	.	ENSG00000159131	ENST00000414353;ENST00000381815;ENST00000381831;ENST00000381839;ENST00000543717	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	6.17	6.17	0.99709	Formyl transferase, N-terminal (3);	0.102170	0.64402	D	0.000002	T	0.68997	0.3062	N	0.04063	-0.285	0.58432	D	0.999999	P	0.42409	0.779	P	0.46543	0.52	T	0.72157	-0.4375	10	0.42905	T	0.14	-28.6778	20.8794	0.99867	0.0:0.0:1.0:0.0	.	828	P22102	PUR2_HUMAN	I	92;828;828;828;380	ENSP00000371236:T828I;ENSP00000371253:T828I;ENSP00000371261:T828I;ENSP00000443579:T380I	ENSP00000371236:T828I	T	-	2	0	GART	33800251	1.000000	0.71417	0.857000	0.33713	0.108000	0.19459	5.272000	0.65559	2.941000	0.99782	0.655000	0.94253	ACT		0.423	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		46	50	0	0	0	0	46	50				
DOPEY2	9980	broad.mit.edu	37	21	37652588	37652588	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr21:37652588A>G	ENST00000399151.3	+	31	6060	c.5975A>G	c.(5974-5976)aAg>aGg	p.K1992R		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1992					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCCAGTTGGAAGTCCATTATT	0.289																																						uc002yvg.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(5974-5976)AAG>AGG		pad-1-like							166.0	151.0	156.0					21																	37652588		2203	4299	6502	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37652588A>G	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.5975A>G	21.37:g.37652588A>G	ENSP00000382104:p.Lys1992Arg					DOPEY2_uc011aeb.1_Missense_Mutation_p.K1941R	p.K1992R	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			31	6054	+			1992					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.5975A>G	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	A	3.130	-0.178692	0.06380	.	.	ENSG00000142197	ENST00000399151	T	0.41400	1.0	5.42	2.71	0.32032	.	0.146454	0.64402	N	0.000014	T	0.18467	0.0443	N	0.12611	0.24	0.36050	D	0.840694	B;B	0.15473	0.013;0.008	B;B	0.18263	0.021;0.009	T	0.22487	-1.0215	10	0.02654	T	1	-0.0019	7.4307	0.27126	0.7327:0.0:0.2673:0.0	.	1985;1992	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	R	1992	ENSP00000382104:K1992R	ENSP00000382104:K1992R	K	+	2	0	DOPEY2	36574458	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.044000	0.41241	0.904000	0.36572	0.533000	0.62120	AAG		0.289	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		8	27	0	0	0	0	8	27				
KCNJ15	3772	broad.mit.edu	37	21	39672100	39672100	+	Missense_Mutation	SNP	A	A	T	rs143222338		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr21:39672100A>T	ENST00000328656.4	+	4	1220	c.917A>T	c.(916-918)tAc>tTc	p.Y306F	KCNJ15_ENST00000398938.2_Missense_Mutation_p.Y306F|KCNJ15_ENST00000398934.1_Missense_Mutation_p.Y306F|KCNJ15_ENST00000398932.1_Missense_Mutation_p.Y306F|KCNJ15_ENST00000398930.1_Missense_Mutation_p.Y306F	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	306					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	GAGGAAATCTACTGGGGTTTT	0.468																																						uc002ywv.2		NA																	0				ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						c.(916-918)TAC>TTC		potassium inwardly-rectifying channel J15							64.0	65.0	65.0					21																	39672100		2203	4300	6503	SO:0001583	missense	3772				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity	g.chr21:39672100A>T	Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.917A>T	21.37:g.39672100A>T	ENSP00000331698:p.Tyr306Phe					KCNJ15_uc002yww.2_Missense_Mutation_p.Y306F|KCNJ15_uc002ywx.2_Missense_Mutation_p.Y306F	p.Y306F	NM_002243	NP_002234	Q99712	IRK15_HUMAN			4	1219	+			306			Cytoplasmic (By similarity).		D3DSH5|O00564|Q96L28|Q99446	Missense_Mutation	SNP	ENST00000328656.4	37	c.917A>T	CCDS13656.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.400843	0.42613	.	.	ENSG00000157551	ENST00000328656;ENST00000398938;ENST00000398932;ENST00000398930;ENST00000398934	D;D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27;-3.27	5.72	4.54	0.55810	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.303860	0.33023	N	0.005365	D	0.85548	0.5722	N	0.19112	0.55	0.35284	D	0.781614	B	0.06786	0.001	B	0.11329	0.006	T	0.80531	-0.1341	9	.	.	.	.	8.6452	0.34000	0.7377:0.1342:0.0:0.1281	.	306	Q99712	IRK15_HUMAN	F	306	ENSP00000331698:Y306F;ENSP00000381911:Y306F;ENSP00000381905:Y306F;ENSP00000381904:Y306F;ENSP00000381907:Y306F	.	Y	+	2	0	KCNJ15	38593970	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.454000	0.60068	0.965000	0.38133	0.533000	0.62120	TAC		0.468	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	NM_002243		23	13	0	0	0	0	23	13				
BRWD1	54014	broad.mit.edu	37	21	40578121	40578121	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr21:40578121T>C	ENST00000333229.2	-	37	4604	c.4277A>G	c.(4276-4278)cAa>cGa	p.Q1426R	BRWD1_ENST00000342449.3_Missense_Mutation_p.Q1426R|BRWD1_ENST00000380800.3_Missense_Mutation_p.Q1426R	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1426					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATTGAATTTTTGACCAATTTT	0.318																																					Melanoma(170;988 1986 4794 16843 39731)	uc002yxk.1		NA																	0				skin(3)|ovary(1)	4						c.(4276-4278)CAA>CGA		bromodomain and WD repeat domain containing 1							82.0	85.0	84.0					21																	40578121		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40578121T>C	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4277A>G	21.37:g.40578121T>C	ENSP00000330753:p.Gln1426Arg					BRWD1_uc010goc.1_Missense_Mutation_p.Q69R|BRWD1_uc002yxl.2_Missense_Mutation_p.Q1426R|BRWD1_uc010god.1_Missense_Mutation_p.Q344R	p.Q1426R	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN			37	4416	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1426					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.4277A>G	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	T	7.573	0.667081	0.14710	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783	T;T;T	0.54675	0.56;0.59;0.67	4.87	4.87	0.63330	Bromodomain (1);	0.182059	0.38720	N	0.001597	T	0.51007	0.1649	L	0.50333	1.59	0.80722	D	1	P;D;D	0.60575	0.894;0.988;0.985	P;P;P	0.49799	0.583;0.61;0.622	T	0.46034	-0.9220	10	0.23302	T	0.38	-6.8847	9.8307	0.40939	0.153:0.0:0.0:0.8469	.	1426;1426;1426	Q9NSI6-3;Q9NSI6-2;Q9NSI6	.;.;BRWD1_HUMAN	R	1426;1426;1426;382	ENSP00000330753:Q1426R;ENSP00000344333:Q1426R;ENSP00000370178:Q1426R	ENSP00000330753:Q1426R	Q	-	2	0	BRWD1	39499991	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.443000	0.59994	1.831000	0.53308	0.459000	0.35465	CAA		0.318	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		62	30	0	0	0	0	62	30				
IGSF5	150084	broad.mit.edu	37	21	41142930	41142930	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr21:41142930C>A	ENST00000380588.4	+	4	609	c.506C>A	c.(505-507)aCc>aAc	p.T169N	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	169	Ig-like V-type 2.				single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TCACACTGGACCCGGCTCCCG	0.483																																						uc002yyo.2		NA																	0					0						c.(505-507)ACC>AAC		immunoglobulin superfamily 5 like							71.0	68.0	69.0					21																	41142930		2203	4300	6503	SO:0001583	missense	150084					integral to membrane|tight junction		g.chr21:41142930C>A		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.506C>A	21.37:g.41142930C>A	ENSP00000369962:p.Thr169Asn						p.T169N	NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN			4	609	+		Prostate(19;5.35e-06)	169			Ig-like V-type 2.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000380588.4	37	c.506C>A	CCDS33562.1	.	.	.	.	.	.	.	.	.	.	C	9.110	1.006300	0.19199	.	.	ENSG00000183067	ENST00000380588	T	0.09538	2.97	5.17	-6.25	0.02039	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.209550	0.05384	N	0.537808	T	0.03695	0.0105	N	0.11255	0.115	0.09310	N	1	B	0.27013	0.166	B	0.18561	0.022	T	0.36359	-0.9751	10	0.27082	T	0.32	-1.5872	0.5054	0.00587	0.1976:0.2623:0.2083:0.3319	.	169	Q9NSI5	IGSF5_HUMAN	N	169	ENSP00000369962:T169N	ENSP00000369962:T169N	T	+	2	0	IGSF5	40064800	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.540000	0.06106	-1.091000	0.03065	0.650000	0.86243	ACC		0.483	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1			31	20	1	0	3.99e-17	7.16e-17	31	20				
CRYBB3	1417	broad.mit.edu	37	22	25601255	25601255	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:25601255G>A	ENST00000215855.2	+	5	476	c.396G>A	c.(394-396)gtG>gtA	p.V132V	CRYBB3_ENST00000404334.1_Intron	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	132	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(2)|lung(2)|prostate(1)	5						TGGAGATAGTGGATGATGACG	0.582																																						uc003abo.1		NA																	0					0						c.(394-396)GTG>GTA		crystallin, beta B3							108.0	82.0	91.0					22																	25601255		2203	4300	6503	SO:0001819	synonymous_variant	1417				visual perception		protein binding|structural constituent of eye lens	g.chr22:25601255G>A		CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.396G>A	22.37:g.25601255G>A							p.V132V	NM_004076	NP_004067	P26998	CRBB3_HUMAN			5	468	+			132			Beta/gamma crystallin 'Greek key' 3.		Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Silent	SNP	ENST00000215855.2	37	c.396G>A	CCDS13830.1																																																																																				0.582	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320352.1	NM_004076		18	37	0	0	0	0	18	37				
APOL6	80830	broad.mit.edu	37	22	36054987	36054987	+	Missense_Mutation	SNP	G	G	A	rs537732644		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:36054987G>A	ENST00000409652.4	+	3	652	c.376G>A	c.(376-378)Gtg>Atg	p.V126M		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	126					lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						CACCAGCATCGTGAGTGGTAC	0.577																																						uc003aoe.2		NA																	0					0						c.(376-378)GTG>ATG		apolipoprotein L6							61.0	57.0	59.0					22																	36054987		2203	4300	6503	SO:0001583	missense	80830				lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity	g.chr22:36054987G>A	AY014879	CCDS13919.1	22q12.3	2013-01-24			ENSG00000221963	ENSG00000221963		"""Apolipoproteins"""	14870	protein-coding gene	gene with protein product		607256				11374903, 15671246	Standard	NM_030641		Approved	APOL-VI, APOLVI	uc003aoe.3	Q9BWW8	OTTHUMG00000150615	ENST00000409652.4:c.376G>A	22.37:g.36054987G>A	ENSP00000386280:p.Val126Met					APOL6_uc003aod.2_RNA	p.V126M	NM_030641	NP_085144	Q9BWW8	APOL6_HUMAN			3	670	+			126					Q5R3S1|Q658J1|Q8IXX6|Q9UGG1	Missense_Mutation	SNP	ENST00000409652.4	37	c.376G>A	CCDS13919.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714272	0.48622	.	.	ENSG00000221963	ENST00000409652	T	0.03889	3.77	4.14	-7.01	0.01594	.	1.035260	0.07679	N	0.936805	T	0.18551	0.0445	M	0.85197	2.74	0.09310	N	1	D	0.89917	1.0	D	0.74674	0.984	T	0.07462	-1.0771	10	0.46703	T	0.11	-1.3978	11.3929	0.49825	0.0:0.0968:0.1572:0.746	.	126	Q9BWW8	APOL6_HUMAN	M	126	ENSP00000386280:V126M	ENSP00000386280:V126M	V	+	1	0	APOL6	34384933	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.205000	0.03014	-1.089000	0.03073	-0.182000	0.12963	GTG		0.577	APOL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319081.2	NM_030641		11	51	0	0	0	0	11	51				
TST	7263	broad.mit.edu	37	22	37407115	37407115	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:37407115C>G	ENST00000403892.3	-	2	1581	c.847G>C	c.(847-849)Gcc>Ccc	p.A283P	TST_ENST00000249042.3_Missense_Mutation_p.A283P|Y_RNA_ENST00000516603.1_RNA	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	283	Rhodanese 2. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cellular nitrogen compound metabolic process (GO:0034641)|cyanate catabolic process (GO:0009440)|epithelial cell differentiation (GO:0030855)|rRNA import into mitochondrion (GO:0035928)|rRNA transport (GO:0051029)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|thiosulfate sulfurtransferase activity (GO:0004792)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						TCTGGGGGGGCCCGGCGAAAC	0.632																																						uc003aqg.2		NA																	0					0						c.(847-849)GCC>CCC		thiosulfate sulfurtransferase							52.0	56.0	55.0					22																	37407115		2202	4300	6502	SO:0001583	missense	7263				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity	g.chr22:37407115C>G	Z73420	CCDS13938.1	22q13.1	2002-02-05			ENSG00000128311	ENSG00000128311	2.8.1.1		12388	protein-coding gene	gene with protein product		180370				1953758	Standard	NM_003312		Approved	RDS	uc003aqh.4	Q16762	OTTHUMG00000150533	ENST00000403892.3:c.847G>C	22.37:g.37407115C>G	ENSP00000385828:p.Ala283Pro					TST_uc003aqh.2_Missense_Mutation_p.A283P	p.A283P	NM_003312	NP_003303	Q16762	THTR_HUMAN			2	1547	-			283			Rhodanese 2.		B3KRM1|Q6IB06	Missense_Mutation	SNP	ENST00000403892.3	37	c.847G>C	CCDS13938.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249621	0.80024	.	.	ENSG00000128311	ENST00000403892;ENST00000249042;ENST00000413912	T;T	0.42513	0.97;0.97	5.08	2.91	0.33838	Rhodanese-like (4);	0.054699	0.64402	D	0.000001	T	0.24851	0.0603	N	0.11651	0.15	0.80722	D	1	B	0.28971	0.229	B	0.26693	0.072	T	0.07947	-1.0746	10	0.52906	T	0.07	-11.7728	13.6892	0.62535	0.2969:0.7031:0.0:0.0	.	283	Q16762	THTR_HUMAN	P	283;283;230	ENSP00000385828:A283P;ENSP00000249042:A283P	ENSP00000249042:A283P	A	-	1	0	TST	35737061	1.000000	0.71417	0.934000	0.37439	0.800000	0.45204	4.129000	0.57957	0.652000	0.30806	0.655000	0.94253	GCC		0.632	TST-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318790.1			11	101	0	0	0	0	11	101				
CACNA1I	8911	broad.mit.edu	37	22	40055471	40055471	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:40055471C>A	ENST00000402142.3	+	13	2364	c.2364C>A	c.(2362-2364)ttC>ttA	p.F788L	CACNA1I_ENST00000400164.3_Missense_Mutation_p.F753L|CACNA1I_ENST00000336649.4_Missense_Mutation_p.F794L|CACNA1I_ENST00000404898.1_Missense_Mutation_p.F753L|CACNA1I_ENST00000407673.1_Missense_Mutation_p.F753L|CACNA1I_ENST00000401624.1_Missense_Mutation_p.F788L	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	788					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GCTGCAAGTTCAGCCTCCGCA	0.562																																						uc003ayc.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(2362-2364)TTC>TTA		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						55.0	55.0	55.0					22																	40055471		2103	4217	6320	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40055471C>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.2364C>A	22.37:g.40055471C>A	ENSP00000385019:p.Phe788Leu					CACNA1I_uc003ayd.2_Missense_Mutation_p.F753L|CACNA1I_uc003aye.2_Missense_Mutation_p.F703L|CACNA1I_uc003ayf.2_Missense_Mutation_p.F668L	p.F788L	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			13	2364	+	Melanoma(58;0.0749)		788			Extracellular (Potential).|II.		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.2364C>A	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	33	5.272307	0.95429	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98120	-4.73;-4.73;-4.73;-4.73;-4.73;-4.73	4.3	4.3	0.51218	Ion transport (1);	0.100226	0.64402	D	0.000001	D	0.97986	0.9337	L	0.47078	1.49	0.80722	D	1	D;D;D;D	0.76494	0.999;0.996;0.999;0.999	D;D;D;D	0.80764	0.99;0.911;0.994;0.992	D	0.99308	1.0903	10	0.87932	D	0	.	17.291	0.87156	0.0:1.0:0.0:0.0	.	753;788;753;788	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	L	788;753;788;753;794;753	ENSP00000385019:F788L;ENSP00000384093:F753L;ENSP00000383887:F788L;ENSP00000385680:F753L;ENSP00000337829:F794L;ENSP00000383028:F753L	ENSP00000337829:F794L	F	+	3	2	CACNA1I	38385417	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.430000	0.44766	2.370000	0.80446	0.561000	0.74099	TTC		0.562	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		5	7	1	0	1.24e-05	1.82e-05	5	7				
MKL1	57591	broad.mit.edu	37	22	40815102	40815102	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:40815102G>A	ENST00000355630.3	-	12	1930	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M	MKL1_ENST00000407029.1_Missense_Mutation_p.T447M|MKL1_ENST00000396617.3_Missense_Mutation_p.T447M|MKL1_ENST00000402042.1_Missense_Mutation_p.T397M	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	447					negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.T447M(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CGTGGAGCCCGTGCTGCCAAA	0.692			T	RBM15	acute megakaryocytic leukemia																																	uc003ayv.1		NA		Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(1339-1341)ACG>ATG		megakaryoblastic leukemia 1 protein							13.0	12.0	13.0					22																	40815102		2193	4290	6483	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40815102G>A	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.1340C>T	22.37:g.40815102G>A	ENSP00000347847:p.Thr447Met					MKL1_uc003ayw.1_Missense_Mutation_p.T447M|MKL1_uc010gye.1_Missense_Mutation_p.T447M|MKL1_uc010gyf.1_Missense_Mutation_p.T397M	p.T447M	NM_020831	NP_065882	Q969V6	MKL1_HUMAN			9	1547	-			447					Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.1340C>T	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768896	0.49680	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	T;T;T;T	0.54866	0.55;0.61;0.55;0.55	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.75488	0.3856	M	0.82323	2.585	0.54753	D	0.999989	P;D;D	0.89917	0.926;1.0;1.0	B;D;D	0.83275	0.241;0.996;0.996	T	0.78643	-0.2124	10	0.56958	D	0.05	-19.4014	18.3103	0.90197	0.0:0.0:1.0:0.0	.	397;447;447	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	M	447;447;397;447	ENSP00000347847:T447M;ENSP00000379861:T447M;ENSP00000385584:T397M;ENSP00000385835:T447M	ENSP00000347847:T447M	T	-	2	0	MKL1	39145048	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	4.596000	0.61055	2.553000	0.86117	0.655000	0.94253	ACG		0.692	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		9	14	0	0	0	0	9	14				
ACO2	50	broad.mit.edu	37	22	41922444	41922444	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:41922444C>G	ENST00000216254.4	+	15	1962	c.1940C>G	c.(1939-1941)gCc>gGc	p.A647G	ACO2_ENST00000396512.3_Missense_Mutation_p.A672G|POLR3H_ENST00000355209.4_3'UTR|POLR3H_ENST00000396504.2_3'UTR	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	647					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CCTGACACTGCCCGCTACTAC	0.577											OREG0026589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003bac.2		NA																	0				breast(2)|ovary(1)|lung(1)	4						c.(1939-1941)GCC>GGC		aconitase 2, mitochondrial precursor							90.0	81.0	84.0					22																	41922444		2203	4300	6503	SO:0001583	missense	50				citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	g.chr22:41922444C>G	AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"""aconitate hydratase, mitochondrial"""	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.1940C>G	22.37:g.41922444C>G	ENSP00000216254:p.Ala647Gly		OREG0026589	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	904	ACO2_uc003bad.2_Missense_Mutation_p.A672G|POLR3H_uc003bae.2_RNA|POLR3H_uc003baf.2_3'UTR|POLR3H_uc003bag.2_3'UTR|POLR3H_uc003bai.2_3'UTR	p.A647G	NM_001098	NP_001089	Q99798	ACON_HUMAN			15	1962	+			647					O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Missense_Mutation	SNP	ENST00000216254.4	37	c.1940C>G	CCDS14017.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045213	0.93685	.	.	ENSG00000100412	ENST00000541439;ENST00000544234;ENST00000216254;ENST00000396512	T;T	0.49720	0.77;0.77	5.27	5.27	0.74061	Aconitase/3-isopropylmalate dehydratase, swivel (2);Aconitase A/isopropylmalate dehydratase small subunit, swivel (1);	0.000000	0.85682	D	0.000000	T	0.75961	0.3921	H	0.98407	4.225	0.80722	D	1	P;B	0.44877	0.845;0.449	P;B	0.50825	0.651;0.418	D	0.85220	0.1026	10	0.66056	D	0.02	.	17.4364	0.87553	0.0:1.0:0.0:0.0	.	672;647	A2A274;Q99798	.;ACON_HUMAN	G	368;628;647;672	ENSP00000216254:A647G;ENSP00000379769:A672G	ENSP00000216254:A647G	A	+	2	0	ACO2	40252390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.416000	0.80143	2.621000	0.88768	0.655000	0.94253	GCC		0.577	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1	NM_001098		41	100	0	0	0	0	41	100				
SEPT3	55964	broad.mit.edu	37	22	42383671	42383671	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:42383671C>T	ENST00000396426.3	+	5	714	c.459C>T	c.(457-459)ttC>ttT	p.F153F	SEPT3_ENST00000396425.3_Silent_p.F153F|SEPT3_ENST00000406029.1_Silent_p.F89F|SEPT3_ENST00000291236.11_Silent_p.F89F|SEPT3_ENST00000328414.8_Missense_Mutation_p.S83F	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	153	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						ACGAGAAGTTCCTGAAGGAGG	0.507																																						uc003bbr.3		NA																	0					0						c.(457-459)TTC>TTT		septin 3 isoform A							208.0	147.0	168.0					22																	42383671		2203	4300	6503	SO:0001819	synonymous_variant	55964				cell cycle|cytokinesis	cell junction|septin complex	GTP binding	g.chr22:42383671C>T	AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"""Septins"""	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.459C>T	22.37:g.42383671C>T						WBP2NL_uc011ape.1_Intron|SEPT3_uc003bbs.3_Silent_p.F153F|SEPT3_uc010gyr.2_Silent_p.F89F|SEPT3_uc011apj.1_Silent_p.F89F|SEPT3_uc010gys.2_5'UTR	p.F153F	NM_145733	NP_663786	Q9UH03	SEPT3_HUMAN			5	597	+			153					B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Silent	SNP	ENST00000396426.3	37	c.459C>T	CCDS14026.2	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320402	0.60634	.	.	ENSG00000100167	ENST00000328414	.	.	.	5.35	4.33	0.51752	.	.	.	.	.	T	0.40196	0.1107	.	.	.	0.25077	N	0.99096	.	.	.	.	.	.	T	0.23976	-1.0173	4	.	.	.	.	11.109	0.48221	0.0:0.8384:0.0:0.1616	.	.	.	.	F	83	.	.	S	+	2	0	SEPT3	40713617	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.830000	0.39131	1.386000	0.46466	0.563000	0.77884	TCC		0.507	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322051.1	NM_145734		18	44	0	0	0	0	18	44				
CELSR1	9620	broad.mit.edu	37	22	46760459	46760459	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:46760459C>T	ENST00000262738.3	-	33	8728	c.8729G>A	c.(8728-8730)aGc>aAc	p.S2910N		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2910					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGCGCCCCCGCTCTCCTGGTC	0.692																																						uc003bhw.1		NA																	0				lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(8728-8730)AGC>AAC		cadherin EGF LAG seven-pass G-type receptor 1							26.0	31.0	29.0					22																	46760459		2200	4289	6489	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46760459C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.8729G>A	22.37:g.46760459C>T	ENSP00000262738:p.Ser2910Asn						p.S2910N	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	33	8729	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2910			Cytoplasmic (Potential).		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.8729G>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.519813	0.27211	.	.	ENSG00000075275	ENST00000262738	T	0.68181	-0.31	4.4	3.11	0.35812	.	0.255650	0.24492	U	0.038057	T	0.48314	0.1493	L	0.31294	0.92	0.20074	N	0.999933	B	0.02656	0.0	B	0.04013	0.001	T	0.26360	-1.0105	10	0.38643	T	0.18	.	5.5801	0.17245	0.0:0.6637:0.0:0.3363	.	2910	Q9NYQ6	CELR1_HUMAN	N	2910	ENSP00000262738:S2910N	ENSP00000262738:S2910N	S	-	2	0	CELSR1	45139123	0.026000	0.19158	0.003000	0.11579	0.013000	0.08279	0.788000	0.26872	1.978000	0.57642	0.563000	0.77884	AGC		0.692	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		50	15	0	0	0	0	50	15				
ALG12	79087	broad.mit.edu	37	22	50307385	50307385	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr22:50307385C>A	ENST00000330817.6	-	2	302	c.29G>T	c.(28-30)cGg>cTg	p.R10L		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	10					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CAGCAGGGGCCGCCTGCCTGA	0.602																																						uc003biy.2		NA																	0					0						c.(28-30)CGG>CTG		alpha-1,6-mannosyltransferase ALG12							54.0	64.0	60.0					22																	50307385		2203	4299	6502	SO:0001583	missense	79087				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50307385C>A	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.29G>T	22.37:g.50307385C>A	ENSP00000333813:p.Arg10Leu						p.R10L	NM_024105	NP_077010	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	2	303	-		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	10					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	37	c.29G>T	CCDS14081.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837986	0.32513	.	.	ENSG00000182858	ENST00000330817	D	0.87571	-2.27	5.43	-0.904	0.10530	.	1.129290	0.06457	N	0.728843	T	0.79227	0.4410	L	0.36672	1.1	0.09310	N	1	B	0.31318	0.319	B	0.23716	0.048	T	0.63567	-0.6608	10	0.52906	T	0.07	-0.6522	7.575	0.27931	0.0:0.2585:0.1069:0.6346	.	10	Q9BV10	ALG12_HUMAN	L	10	ENSP00000333813:R10L	ENSP00000333813:R10L	R	-	2	0	ALG12	48693389	0.000000	0.05858	0.008000	0.14137	0.665000	0.39181	-0.018000	0.12568	-0.556000	0.06134	0.655000	0.94253	CGG		0.602	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		36	114	1	0	1.31e-17	2.37e-17	36	114				
CHL1	10752	broad.mit.edu	37	3	367721	367721	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:367721T>A	ENST00000256509.2	+	4	813	c.171T>A	c.(169-171)tgT>tgA	p.C57*	CHL1_ENST00000397491.2_Nonsense_Mutation_p.C57*	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AAATTGAATGTGAAGCTAAAG	0.348																																						uc003bou.2		NA																	0				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(169-171)TGT>TGA		cell adhesion molecule with homology to L1CAM							82.0	83.0	82.0					3																	367721		2202	4300	6502	SO:0001587	stop_gained	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:367721T>A	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.171T>A	3.37:g.367721T>A	ENSP00000256509:p.Cys57*					CHL1_uc003bot.2_Nonsense_Mutation_p.C57*|CHL1_uc003bow.1_Nonsense_Mutation_p.C57*|CHL1_uc011asi.1_Nonsense_Mutation_p.C57*	p.C57*	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	4	442	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	57			Ig-like C2-type 1.|Extracellular (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Nonsense_Mutation	SNP	ENST00000256509.2	37	c.171T>A	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	T	37	6.291284	0.97449	.	.	ENSG00000134121	ENST00000256509;ENST00000397491;ENST00000427688;ENST00000421198;ENST00000435603;ENST00000449294	.	.	.	5.67	4.51	0.55191	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2302	0.43250	0.0:0.0753:0.0:0.9247	.	.	.	.	X	57	.	ENSP00000256509:C57X	C	+	3	2	CHL1	342721	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	2.899000	0.48679	0.985000	0.38656	0.451000	0.29950	TGT		0.348	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		18	16	0	0	0	0	18	16				
CHL1	10752	broad.mit.edu	37	3	433478	433478	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:433478T>A	ENST00000256509.2	+	23	3554	c.2912T>A	c.(2911-2913)aTa>aAa	p.I971K	CHL1_ENST00000397491.2_Missense_Mutation_p.I955K	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAATATCAGATAAGTAAGTAG	0.333																																						uc003bou.2		NA																	0				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(2863-2865)ATA>AAA		cell adhesion molecule with homology to L1CAM							59.0	60.0	60.0					3																	433478		2203	4298	6501	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:433478T>A	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2912T>A	3.37:g.433478T>A	ENSP00000256509:p.Ile971Lys					CHL1_uc003bot.2_Missense_Mutation_p.I971K|CHL1_uc003bow.1_Missense_Mutation_p.I955K|CHL1_uc011asi.1_Missense_Mutation_p.I971K	p.I955K	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	22	3135	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	955			Fibronectin type-III 4.|Extracellular (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.2864T>A	CCDS2556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.25|14.25	2.480332|2.480332	0.44044|0.44044	.|.	.|.	ENSG00000134121|ENSG00000134121	ENST00000256509;ENST00000397491|ENST00000445697	T;T|.	0.54479|.	0.57;0.57|.	5.62|5.62	5.62|5.62	0.85841|0.85841	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.238601|.	0.42821|.	D|.	0.000656|.	T|.	0.68118|.	0.2966|.	L|L	0.49350|0.49350	1.555|1.555	0.58432|0.58432	D|D	0.999995|0.999995	B;B;P|.	0.46395|.	0.176;0.082;0.877|.	B;B;P|.	0.50825|.	0.065;0.105;0.651|.	T|.	0.65763|.	-0.6089|.	10|.	0.48119|.	T|.	0.1|.	.|.	15.8144|15.8144	0.78589|0.78589	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	955;955;971|.	B3KX75;O00533;O00533-2|.	.;CHL1_HUMAN;.|.	K|K	971;955|158	ENSP00000256509:I971K;ENSP00000380628:I955K|.	ENSP00000256509:I971K|.	I|X	+|+	2|1	0|0	CHL1|CHL1	408478|408478	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	3.156000|3.156000	0.50708|0.50708	2.130000|2.130000	0.65690|0.65690	0.528000|0.528000	0.53228|0.53228	ATA|TAA		0.333	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		9	24	0	0	0	0	9	24				
LRRN1	57633	broad.mit.edu	37	3	3886778	3886778	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:3886778C>G	ENST00000319331.3	+	2	1214	c.453C>G	c.(451-453)aaC>aaG	p.N151K	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	151						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TCTACATCAACCACAACCAAA	0.398																																						uc003bpt.3		NA																	0				central_nervous_system(1)	1						c.(451-453)AAC>AAG		leucine rich repeat neuronal 1 precursor							83.0	87.0	85.0					3																	3886778		2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3886778C>G	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.453C>G	3.37:g.3886778C>G	ENSP00000314901:p.Asn151Lys					SUMF1_uc003bps.1_Intron	p.N151K	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	1214	+			151			LRR 4.|Extracellular (Potential).		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.453C>G	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145433	0.57044	.	.	ENSG00000175928	ENST00000319331	T	0.57107	0.42	5.76	3.98	0.46160	.	0.000000	0.85682	D	0.000000	T	0.61464	0.2349	L	0.45470	1.425	0.50313	D	0.99986	D	0.89917	1.0	D	0.91635	0.999	T	0.57499	-0.7801	10	0.37606	T	0.19	.	8.5511	0.33451	0.0:0.6921:0.0:0.3079	.	151	Q6UXK5	LRRN1_HUMAN	K	151	ENSP00000314901:N151K	ENSP00000314901:N151K	N	+	3	2	LRRN1	3861778	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.997000	0.40786	0.786000	0.33708	0.655000	0.94253	AAC		0.398	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		10	29	0	0	0	0	10	29				
SLC6A11	6538	broad.mit.edu	37	3	10960130	10960130	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:10960130C>T	ENST00000254488.2	+	8	1178	c.1112C>T	c.(1111-1113)gCa>gTa	p.A371V		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	371					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	GCTGAGGTGGCAGAGTCAGGT	0.567																																						uc003bvz.2		NA																	0				skin(3)|ovary(1)	4						c.(1111-1113)GCA>GTA		solute carrier family 6 (neurotransmitter							104.0	88.0	94.0					3																	10960130		2203	4300	6503	SO:0001583	missense	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10960130C>T	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1112C>T	3.37:g.10960130C>T	ENSP00000254488:p.Ala371Val						p.A371V	NM_014229	NP_055044	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	8	1146	+			371					B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	c.1112C>T	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	C	32	5.150225	0.94645	.	.	ENSG00000132164	ENST00000254488	T	0.78481	-1.18	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	D	0.84133	0.5405	L	0.60904	1.88	0.80722	D	1	P	0.51057	0.941	P	0.59546	0.859	D	0.85667	0.1292	10	0.54805	T	0.06	.	16.7584	0.85506	0.0:1.0:0.0:0.0	.	371	P48066	S6A11_HUMAN	V	371	ENSP00000254488:A371V	ENSP00000254488:A371V	A	+	2	0	SLC6A11	10935130	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.494000	0.81503	2.120000	0.65058	0.491000	0.48974	GCA		0.567	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		17	8	0	0	0	0	17	8				
KCNH8	131096	broad.mit.edu	37	3	19554594	19554594	+	Missense_Mutation	SNP	C	C	T	rs138619397	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:19554594C>T	ENST00000328405.2	+	13	2478	c.2212C>T	c.(2212-2214)Cgc>Tgc	p.R738C		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	738					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.R738G(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ATCTTCTTCGCGCAACAAGAA	0.552													C|||	4	0.000798722	0.0015	0.0014	5008	,	,		17144	0.0		0.001	False		,,,				2504	0.0				NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1		NA																	1	Substitution - Missense(1)	p.R738L(1)	lung(1)	lung(4)|ovary(1)	5						c.(2212-2214)CGC>TGC		potassium voltage-gated channel, subfamily H,		C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	75.0	64.0	68.0		2212	4.7	0.0	3	dbSNP_134	68	0,8600		0,0,4300	no	missense	KCNH8	NM_144633.2	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	738/1108	19554594	2,13004	2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19554594C>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2212C>T	3.37:g.19554594C>T	ENSP00000328813:p.Arg738Cys					KCNH8_uc010hex.1_Missense_Mutation_p.R199C	p.R738C	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			13	2407	+			738			Cytoplasmic (Potential).		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.2212C>T	CCDS2632.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	8.929	0.962897	0.18583	4.54E-4	0.0	ENSG00000183960	ENST00000328405	D	0.98617	-5.03	5.68	4.74	0.60224	.	0.532611	0.13645	U	0.372710	D	0.96694	0.8921	L	0.44542	1.39	0.18873	N	0.999988	B	0.06786	0.001	B	0.04013	0.001	D	0.90272	0.4308	9	.	.	.	.	14.7232	0.69323	0.1744:0.8256:0.0:0.0	.	738	Q96L42	KCNH8_HUMAN	C	738	ENSP00000328813:R738C	.	R	+	1	0	KCNH8	19529598	0.314000	0.24563	0.011000	0.14972	0.530000	0.34684	2.577000	0.46042	2.674000	0.91012	0.585000	0.79938	CGC		0.552	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		15	48	0	0	0	0	15	48				
TRIM71	131405	broad.mit.edu	37	3	32932010	32932010	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:32932010G>T	ENST00000383763.5	+	4	1377	c.1314G>T	c.(1312-1314)ctG>ctT	p.L438L		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	438					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACCGGATGCTGGCCCAGGTGC	0.617																																						uc003cff.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1312-1314)CTG>CTT		tripartite motif-containing 71							52.0	60.0	57.0					3																	32932010		2059	4188	6247	SO:0001819	synonymous_variant	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32932010G>T		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.1314G>T	3.37:g.32932010G>T							p.L438L	NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN			4	1377	+			438						Silent	SNP	ENST00000383763.5	37	c.1314G>T	CCDS43060.1																																																																																				0.617	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		47	22	1	0	3.77e-16	6.71e-16	47	22				
SCN10A	6336	broad.mit.edu	37	3	38793848	38793848	+	Silent	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:38793848C>G	ENST00000449082.2	-	11	1616	c.1617G>C	c.(1615-1617)ctG>ctC	p.L539L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	539					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CACCCCCACCCAGCAGCAGAG	0.607																																						uc003ciq.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(1615-1617)CTG>CTC		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						64.0	70.0	68.0					3																	38793848		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38793848C>G	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1617G>C	3.37:g.38793848C>G							p.L539L	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	11	1617	-			539					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.1617G>C	CCDS33736.1																																																																																				0.607	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		24	20	0	0	0	0	24	20				
TGM4	7047	broad.mit.edu	37	3	44952882	44952882	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:44952882C>A	ENST00000296125.4	+	13	1965	c.1897C>A	c.(1897-1899)Cag>Aag	p.Q633K		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	633					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CTCCTCACTACAGACCTCTGA	0.458																																						uc003coc.3		NA																	0				ovary(1)	1						c.(1897-1899)CAG>AAG		transglutaminase 4 (prostate)	L-Glutamine(DB00130)						114.0	109.0	111.0					3																	44952882		2203	4300	6503	SO:0001583	missense	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44952882C>A	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1897C>A	3.37:g.44952882C>A	ENSP00000296125:p.Gln633Lys						p.Q633K	NM_003241	NP_003232	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	13	1970	+			633					Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	c.1897C>A	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.897233	0.00517	.	.	ENSG00000163810	ENST00000296125	T	0.64991	-0.13	2.72	-3.78	0.04333	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.579101	0.12700	N	0.446387	T	0.26448	0.0646	N	0.04018	-0.295	0.09310	N	1	B	0.16603	0.018	B	0.18871	0.023	T	0.18967	-1.0320	10	0.15499	T	0.54	.	0.5622	0.00680	0.2364:0.2033:0.3309:0.2294	.	633	P49221	TGM4_HUMAN	K	633	ENSP00000296125:Q633K	ENSP00000296125:Q633K	Q	+	1	0	TGM4	44927886	0.035000	0.19736	0.000000	0.03702	0.005000	0.04900	-0.379000	0.07437	-0.687000	0.05162	-0.253000	0.11424	CAG		0.458	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		29	69	1	0	1.81e-10	2.99e-10	29	69				
GLYCTK	132158	broad.mit.edu	37	3	52325847	52325847	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:52325847G>T	ENST00000436784.2	+	4	674	c.614G>T	c.(613-615)cGt>cTt	p.R205L	GLYCTK_ENST00000305690.8_Missense_Mutation_p.R205L|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000473032.1_Intron|GLYCTK_ENST00000477382.1_Intron|GLYCTK_ENST00000461183.1_Missense_Mutation_p.R121L|MIR135A1_ENST00000385191.1_RNA|GLYCTK_ENST00000471180.1_Missense_Mutation_p.R78L|GLYCTK_ENST00000354773.4_Intron			Q8IVS8	GLCTK_HUMAN	glycerate kinase	205					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glycerate kinase activity (GO:0008887)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		CTGGCAGCCCGTGGAGCCACC	0.622											OREG0015611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ddo.2		NA																	0					0						c.(613-615)CGT>CTT		glycerate kinase isoform 1							76.0	74.0	75.0					3																	52325847		2203	4300	6503	SO:0001583	missense	132158				protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding	g.chr3:52325847G>T		CCDS2852.1, CCDS46841.1	3p21.1	2008-01-22			ENSG00000168237	ENSG00000168237	2.7.1.31		24247	protein-coding gene	gene with protein product		610516				16753811	Standard	NM_145262		Approved	HBEBP4, HBEBP2	uc003ddo.3	Q8IVS8	OTTHUMG00000158380	ENST00000436784.2:c.614G>T	3.37:g.52325847G>T	ENSP00000389175:p.Arg205Leu		OREG0015611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	984	GLYCTK_uc003ddq.2_Intron|GLYCTK_uc003ddm.2_RNA|GLYCTK_uc003ddn.2_Intron|GLYCTK_uc003ddp.1_Missense_Mutation_p.R205L|GLYCTK_uc003ddr.2_5'Flank	p.R205L	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)	4	710	+			205					Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Missense_Mutation	SNP	ENST00000436784.2	37	c.614G>T	CCDS2852.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460509	0.26248	.	.	ENSG00000168237	ENST00000461183;ENST00000305690;ENST00000471180;ENST00000436784;ENST00000411757	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.46	2.76	0.32466	.	0.245643	0.42294	D	0.000722	T	0.42131	0.1189	L	0.54323	1.7	0.19300	N	0.999978	P;P	0.48640	0.913;0.687	P;P	0.47470	0.535;0.548	T	0.25813	-1.0121	10	0.51188	T	0.08	-3.8551	9.0122	0.36148	0.4086:0.0:0.5914:0.0	.	205;205	Q8IVS8-4;Q8IVS8	.;GLCTK_HUMAN	L	121;205;78;205;139	ENSP00000417264:R121L;ENSP00000301965:R205L;ENSP00000417526:R78L;ENSP00000389175:R205L	ENSP00000301965:R205L	R	+	2	0	GLYCTK	52300887	0.595000	0.26857	0.446000	0.26920	0.990000	0.78478	1.473000	0.35387	0.452000	0.26830	-0.189000	0.12847	CGT		0.622	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350835.1	NM_145262		35	41	1	0	2.42e-17	4.35e-17	35	41				
ZPLD1	131368	broad.mit.edu	37	3	102196426	102196426	+	Silent	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:102196426A>G	ENST00000491959.1	+	18	2094	c.1212A>G	c.(1210-1212)ttA>ttG	p.L404L	ZPLD1_ENST00000306176.1_Silent_p.L420L|ZPLD1_ENST00000466937.1_Silent_p.L404L			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	404						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CCACAAGTTTAGTGTTGAATG	0.473																																						uc003dvs.1		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1210-1212)TTA>TTG		zona pellucida-like domain containing 1							159.0	154.0	156.0					3																	102196426		2203	4300	6503	SO:0001819	synonymous_variant	131368					integral to membrane		g.chr3:102196426A>G	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.1212A>G	3.37:g.102196426A>G						ZPLD1_uc003dvt.1_Silent_p.L420L|ZPLD1_uc011bhg.1_Silent_p.L404L	p.L404L	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN			18	2094	+			404			Cytoplasmic (Potential).		Q49AS1|Q8WU36	Silent	SNP	ENST00000491959.1	37	c.1212A>G																																																																																					0.473	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		38	112	0	0	0	0	38	112				
PVRL3	25945	broad.mit.edu	37	3	110837676	110837676	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:110837676A>G	ENST00000485303.1	+	3	951	c.676A>G	c.(676-678)Acg>Gcg	p.T226A	PVRL3_ENST00000319792.3_Missense_Mutation_p.T226A|PVRL3_ENST00000493615.1_Missense_Mutation_p.T203A	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	226	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TGAAACGGCAACGATTATCAG	0.433																																						uc003dxt.1		NA																	0				upper_aerodigestive_tract(2)	2						c.(676-678)ACG>GCG		poliovirus receptor-related 3 precursor							93.0	84.0	87.0					3																	110837676		2203	4300	6503	SO:0001583	missense	25945				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	g.chr3:110837676A>G	AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.676A>G	3.37:g.110837676A>G	ENSP00000418070:p.Thr226Ala					PVRL3_uc003dxu.1_Missense_Mutation_p.T203A	p.T226A	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN			3	676	+			226			Extracellular (Potential).|Ig-like C2-type 1.		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	ENST00000485303.1	37	c.676A>G	CCDS2957.1	.	.	.	.	.	.	.	.	.	.	A	14.30	2.495637	0.44352	.	.	ENSG00000177707	ENST00000491525;ENST00000485303;ENST00000319792;ENST00000493615	T;T;T	0.80304	-1.36;-1.36;-1.36	5.6	5.6	0.85130	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.098915	0.64402	N	0.000001	D	0.88328	0.6407	M	0.73430	2.235	0.46478	D	0.999064	D;D	0.69078	0.997;0.996	D;D	0.68765	0.96;0.946	D	0.88863	0.3327	10	0.52906	T	0.07	.	13.7501	0.62901	1.0:0.0:0.0:0.0	.	203;226	E9PFR0;Q9NQS3	.;PVRL3_HUMAN	A	14;226;226;203	ENSP00000418070:T226A;ENSP00000321514:T226A;ENSP00000420579:T203A	ENSP00000321514:T226A	T	+	1	0	PVRL3	112320366	1.000000	0.71417	0.998000	0.56505	0.656000	0.38851	8.098000	0.89540	2.140000	0.66376	0.528000	0.53228	ACG		0.433	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480		10	58	0	0	0	0	10	58				
PVRL3	25945	broad.mit.edu	37	3	110837725	110837725	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:110837725G>T	ENST00000485303.1	+	3	1000	c.725G>T	c.(724-726)aGg>aTg	p.R242M	PVRL3_ENST00000319792.3_Missense_Mutation_p.R242M|PVRL3_ENST00000493615.1_Missense_Mutation_p.R219M	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	242	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						GCTAGAGGAAGGCGAATTACT	0.373																																						uc003dxt.1		NA																	0				upper_aerodigestive_tract(2)	2						c.(724-726)AGG>ATG		poliovirus receptor-related 3 precursor							83.0	80.0	81.0					3																	110837725		2203	4300	6503	SO:0001583	missense	25945				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	g.chr3:110837725G>T	AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.725G>T	3.37:g.110837725G>T	ENSP00000418070:p.Arg242Met					PVRL3_uc003dxu.1_Missense_Mutation_p.R219M	p.R242M	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN			3	725	+			242			Extracellular (Potential).|Ig-like C2-type 1.		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	ENST00000485303.1	37	c.725G>T	CCDS2957.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768767	0.69878	.	.	ENSG00000177707	ENST00000485303;ENST00000319792;ENST00000493615	T;T;T	0.77229	-1.08;-1.08;-1.08	5.6	4.73	0.59995	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.183672	0.56097	D	0.000031	T	0.81987	0.4939	L	0.44542	1.39	0.36323	D	0.858372	D;D	0.71674	0.997;0.998	D;D	0.68765	0.96;0.956	D	0.84241	0.0472	9	.	.	.	.	12.4912	0.55901	0.0813:0.0:0.9187:0.0	.	219;242	E9PFR0;Q9NQS3	.;PVRL3_HUMAN	M	242;242;219	ENSP00000418070:R242M;ENSP00000321514:R242M;ENSP00000420579:R219M	.	R	+	2	0	PVRL3	112320415	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	5.168000	0.64978	1.376000	0.46267	0.650000	0.86243	AGG		0.373	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480		14	59	1	0	7.93e-07	1.21e-06	14	59				
KIAA1407	57577	broad.mit.edu	37	3	113724674	113724674	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:113724674T>G	ENST00000295878.3	-	10	1695	c.1549A>C	c.(1549-1551)Aat>Cat	p.N517H	KIAA1407_ENST00000545063.1_Missense_Mutation_p.N348H	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	517										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TGCTGCTTATTGCCAGGTGCA	0.542																																						uc003eax.2		NA																	0				ovary(2)	2						c.(1549-1551)AAT>CAT		hypothetical protein LOC57577							166.0	167.0	167.0					3																	113724674		2203	4300	6503	SO:0001583	missense	57577							g.chr3:113724674T>G	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1549A>C	3.37:g.113724674T>G	ENSP00000295878:p.Asn517His					KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.N495H|KIAA1407_uc011bip.1_Missense_Mutation_p.N504H	p.N517H	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN			10	1696	-			517					B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.1549A>C	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	T	11.30	1.598428	0.28445	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000	T;T;T	0.46063	1.46;0.88;0.9	5.23	-3.86	0.04230	.	1.331770	0.04563	N	0.391973	T	0.30324	0.0761	L	0.36672	1.1	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.32214	-0.9915	10	0.44086	T	0.13	.	6.4153	0.21714	0.0:0.226:0.3644:0.4096	.	504;393;517	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	H	517;348;504	ENSP00000295878:N517H;ENSP00000446381:N348H;ENSP00000418099:N504H	ENSP00000295878:N517H	N	-	1	0	KIAA1407	115207364	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.112000	0.15479	-0.418000	0.07450	-0.290000	0.09829	AAT		0.542	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		46	217	0	0	0	0	46	217				
LSAMP	4045	broad.mit.edu	37	3	115560725	115560725	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:115560725G>C	ENST00000490035.2	-	6	1385	c.886C>G	c.(886-888)Ctg>Gtg	p.L296V	LSAMP_ENST00000498645.1_5'Flank|LSAMP_ENST00000539563.1_Missense_Mutation_p.L293V	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	296	Ig-like C2-type 3.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GTGACCCCCAGCTTGTTGGCA	0.502																																						uc003ebt.2		NA																	0					0						c.(886-888)CTG>GTG		limbic system-associated membrane protein							103.0	88.0	93.0					3																	115560725		2203	4300	6503	SO:0001583	missense	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115560725G>C	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.886C>G	3.37:g.115560725G>C	ENSP00000419000:p.Leu296Val					LSAMP_uc011bis.1_Missense_Mutation_p.L296V	p.L296V	NM_002338	NP_002329	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	6	1386	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	296			Ig-like C2-type 3.		Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	c.886C>G	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341329	0.81911	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563	T;T;T	0.65916	-0.18;-0.18;-0.18	6.08	5.2	0.72013	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75034	0.3795	L	0.55481	1.735	0.58432	D	0.999999	D;D	0.76494	0.999;0.997	D;D	0.80764	0.994;0.976	T	0.76231	-0.3035	10	0.87932	D	0	-4.7856	15.6887	0.77434	0.0661:0.0:0.9339:0.0	.	296;296	B2RCU8;Q13449	.;LSAMP_HUMAN	V	280;296;293	ENSP00000328455:L280V;ENSP00000419000:L296V;ENSP00000443429:L293V	ENSP00000328455:L280V	L	-	1	2	LSAMP	117043415	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.572000	0.53849	2.894000	0.99253	0.655000	0.94253	CTG		0.502	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		12	91	0	0	0	0	12	91				
TIMMDC1	51300	broad.mit.edu	37	3	119236160	119236160	+	Silent	SNP	G	G	A	rs150396264	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:119236160G>A	ENST00000494664.1	+	6	907	c.705G>A	c.(703-705)gaG>gaA	p.E235E	TIMMDC1_ENST00000493694.1_Silent_p.E101E	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	235						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						AACTGGAAGAGTGGTAAGGAA	0.458																																						uc003ecn.2		NA																	0					0						c.(703-705)GAG>GAA		hypothetical protein LOC51300		G		6,4400	11.4+/-27.6	0,6,2197	131.0	134.0	133.0		705	-1.9	0.9	3	dbSNP_134	133	0,8600		0,0,4300	no	coding-synonymous	TIMMDC1	NM_016589.3		0,6,6497	AA,AG,GG		0.0,0.1362,0.0461		235/286	119236160	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	51300					integral to membrane|mitochondrial inner membrane	protein transporter activity	g.chr3:119236160G>A	AF210057	CCDS33831.1	3q13.33	2013-12-05	2011-07-05	2011-07-05	ENSG00000113845	ENSG00000113845			1321	protein-coding gene	gene with protein product		615534	"""chromosome 3 open reading frame 1"""	C3orf1		11092749	Standard	NM_016589		Approved	FLJ22597	uc003ecn.3	Q9NPL8	OTTHUMG00000159388	ENST00000494664.1:c.705G>A	3.37:g.119236160G>A						C3orf1_uc003eco.2_RNA|C3orf1_uc003ecp.2_RNA	p.E235E	NM_016589	NP_057673	Q9NPL8	TIDC1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	6	918	+			235					D3DN81|Q6IAJ7|Q6UWU6|Q9NPR3|Q9NPS5|Q9P0Y6	Silent	SNP	ENST00000494664.1	37	c.705G>A	CCDS33831.1																																																																																				0.458	TIMMDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355077.3	NM_016589		90	73	0	0	0	0	90	73				
MYLK	4638	broad.mit.edu	37	3	123471326	123471326	+	Missense_Mutation	SNP	G	G	T	rs371699704	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:123471326G>T	ENST00000475616.1	-	2	224	c.225C>A	c.(223-225)agC>agA	p.S75R	MYLK_ENST00000360772.3_Missense_Mutation_p.S75R|MYLK_ENST00000346322.5_Missense_Mutation_p.S75R|MYLK_ENST00000359169.1_Missense_Mutation_p.S75R|MYLK_ENST00000360304.3_Missense_Mutation_p.S75R			Q15746	MYLK_HUMAN	myosin light chain kinase	75	Ig-like C2-type 1.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGCGGCCCCCGCTGGTGATGG	0.552																																						uc003ego.2		NA																	0				ovary(6)|skin(2)|stomach(1)	9						c.(223-225)AGC>AGA		myosin light chain kinase isoform 1							36.0	35.0	35.0					3																	123471326		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123471326G>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.225C>A	3.37:g.123471326G>T	ENSP00000418335:p.Ser75Arg					MYLK_uc011bjw.1_Missense_Mutation_p.S75R|MYLK_uc003egp.2_Missense_Mutation_p.S75R|MYLK_uc003egq.2_Missense_Mutation_p.S75R|MYLK_uc003egr.2_Missense_Mutation_p.S75R|MYLK_uc003egs.2_Intron|MYLK_uc010hrs.1_Missense_Mutation_p.S75R|MYLK_uc003egu.1_Missense_Mutation_p.S85R	p.S75R	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	5	507	-		Lung NSC(201;0.0496)	75			Ig-like C2-type 1.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.225C>A	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	7.815	0.716448	0.15306	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616;ENST00000360367	T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41	5.44	-10.9	0.00192	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44912	0.1316	L	0.41710	1.295	0.53688	D	0.999979	B;B;B;B;B;B;B	0.11235	0.003;0.003;0.004;0.003;0.003;0.003;0.004	B;B;B;B;B;B;B	0.18871	0.013;0.011;0.014;0.005;0.014;0.003;0.023	T	0.04017	-1.0984	9	0.29301	T	0.29	.	5.3466	0.16012	0.2134:0.1116:0.4731:0.2019	.	75;75;75;75;75;75;75	Q15746-6;Q15746-5;D3DN97;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;.;MYLK_HUMAN	R	75	ENSP00000354004:S75R;ENSP00000353452:S75R;ENSP00000352088:S75R;ENSP00000320622:S75R;ENSP00000418335:S75R	ENSP00000320622:S75R	S	-	3	2	MYLK	124954016	0.000000	0.05858	0.026000	0.17262	0.444000	0.32077	-1.814000	0.01723	-1.835000	0.01191	-1.728000	0.00702	AGC		0.552	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		24	28	1	0	5.45e-15	9.65e-15	24	28				
RAB7A	7879	broad.mit.edu	37	3	128514247	128514247	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:128514247A>T	ENST00000265062.3	+	2	283	c.37A>T	c.(37-39)Atc>Ttc	p.I13F	RAB7A_ENST00000485280.1_Missense_Mutation_p.I13F|RAB7A_ENST00000482525.1_Missense_Mutation_p.I13F	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	13					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|bone resorption (GO:0045453)|cell death (GO:0008219)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|epidermal growth factor catabolic process (GO:0007174)|GTP catabolic process (GO:0006184)|phagosome acidification (GO:0090383)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein targeting to lysosome (GO:0006622)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	alveolar lamellar body (GO:0097208)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		GAAGGTTATCATCCTGGGAGA	0.458											OREG0015781	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003eks.1		NA																	0					0						c.(37-39)ATC>TTC		RAB7, member RAS oncogene family							168.0	156.0	160.0					3																	128514247		2203	4300	6503	SO:0001583	missense	7879				endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding	g.chr3:128514247A>T	X93499	CCDS3052.1	3q21	2014-09-17	2007-01-15	2007-01-15	ENSG00000075785	ENSG00000075785		"""RAB, member RAS oncogene"""	9788	protein-coding gene	gene with protein product		602298	"""RAB7, member RAS oncogene family"""	RAB7		9126495, 9428630	Standard	NM_004637		Approved		uc003eks.1	P51149	OTTHUMG00000159812	ENST00000265062.3:c.37A>T	3.37:g.128514247A>T	ENSP00000265062:p.Ile13Phe		OREG0015781	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1565	RAB7A_uc010hsv.1_Missense_Mutation_p.I13F|RAB7A_uc003ekt.2_5'Flank	p.I13F	NM_004637	NP_004628	P51149	RAB7A_HUMAN		GBM - Glioblastoma multiforme(114;0.231)	2	269	+			13					A8K3V6|Q9NWJ0|Q9UPB0	Missense_Mutation	SNP	ENST00000265062.3	37	c.37A>T	CCDS3052.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.326658	0.81690	.	.	ENSG00000075785	ENST00000265062;ENST00000482525;ENST00000464496;ENST00000490093;ENST00000493186;ENST00000483906;ENST00000485280	D;D;D;D;T;D;T	0.82255	-1.59;-1.59;-1.59;-1.59;-0.98;-1.59;-1.26	4.98	3.82	0.43975	Small GTP-binding protein domain (1);	.	.	.	.	T	0.77418	0.4127	N	0.26130	0.795	0.80722	D	1	B;P	0.40970	0.319;0.734	P;P	0.45660	0.457;0.489	T	0.77517	-0.2558	9	0.72032	D	0.01	12.835	10.4967	0.44780	0.9237:0.0:0.0763:0.0	.	13;13	C9J8S3;P51149	.;RAB7A_HUMAN	F	13	ENSP00000265062:I13F;ENSP00000417668:I13F;ENSP00000417978:I13F;ENSP00000418955:I13F;ENSP00000417189:I13F;ENSP00000417155:I13F;ENSP00000418283:I13F	ENSP00000265062:I13F	I	+	1	0	RAB7A	129996937	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.248000	0.89832	0.924000	0.37069	0.533000	0.62120	ATC		0.458	RAB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357479.1			59	48	0	0	0	0	59	48				
DZIP1L	199221	broad.mit.edu	37	3	137803000	137803000	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:137803000G>A	ENST00000327532.2	-	8	1520	c.1158C>T	c.(1156-1158)gcC>gcT	p.A386A	DZIP1L_ENST00000469243.1_Silent_p.A386A|DZIP1L_ENST00000488595.1_Intron	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	386					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CCTGCAGCTGGGCACGGAGGG	0.607																																						uc003erq.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1156-1158)GCC>GCT		DAZ interacting protein 1-like							119.0	110.0	113.0					3																	137803000		2203	4300	6503	SO:0001819	synonymous_variant	199221					intracellular	zinc ion binding	g.chr3:137803000G>A	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1158C>T	3.37:g.137803000G>A						DZIP1L_uc003err.1_Silent_p.A386A	p.A386A	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN			8	1521	-			386			Potential.		C9JUG5|Q96M38	Silent	SNP	ENST00000327532.2	37	c.1158C>T	CCDS3096.1																																																																																				0.607	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		25	132	0	0	0	0	25	132				
VEPH1	79674	broad.mit.edu	37	3	157082158	157082158	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:157082158C>A	ENST00000362010.2	-	8	1578	c.1271G>T	c.(1270-1272)gGc>gTc	p.G424V	VEPH1_ENST00000392833.2_Missense_Mutation_p.G424V|VEPH1_ENST00000543418.1_Missense_Mutation_p.G424V|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.G424V	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	424						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TCTGATAGAGCCAGGGGTATT	0.348																																						uc003fbj.1		NA																	0				breast(3)|ovary(1)|lung(1)	5						c.(1270-1272)GGC>GTC		ventricular zone expressed PH domain homolog 1							123.0	121.0	122.0					3																	157082158		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157082158C>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1271G>T	3.37:g.157082158C>A	ENSP00000354919:p.Gly424Val					VEPH1_uc003fbk.1_Missense_Mutation_p.G424V|VEPH1_uc010hvu.1_Missense_Mutation_p.G424V	p.G424V	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		8	1588	-			424					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.1271G>T	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	C	9.711	1.157127	0.21454	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.08984	3.03;3.05;3.03;3.05	5.44	3.62	0.41486	.	0.295951	0.36519	N	0.002557	T	0.09512	0.0234	L	0.32530	0.975	0.80722	D	1	P;P	0.40515	0.719;0.454	B;B	0.44085	0.44;0.154	T	0.11179	-1.0598	10	0.62326	D	0.03	-16.7945	10.7421	0.46160	0.0:0.7958:0.1327:0.0715	.	424;424	Q14D04-2;Q14D04	.;MELT_HUMAN	V	424	ENSP00000376578:G424V;ENSP00000354919:G424V;ENSP00000446258:G424V;ENSP00000376577:G424V	ENSP00000354919:G424V	G	-	2	0	VEPH1	158564852	0.020000	0.18652	0.370000	0.25965	0.043000	0.13939	0.824000	0.27379	1.257000	0.44085	0.650000	0.86243	GGC		0.348	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		22	106	1	0	7.45e-12	1.26e-11	22	106				
SHOX2	6474	broad.mit.edu	37	3	157823782	157823782	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:157823782G>T	ENST00000425436.3	-	1	57	c.32C>A	c.(31-33)tCt>tAt	p.S11Y	SHOX2_ENST00000490689.2_5'Flank|RSRC1_ENST00000480820.1_5'UTR|SHOX2_ENST00000483851.2_Missense_Mutation_p.S11Y|SHOX2_ENST00000389589.4_Missense_Mutation_p.S11Y|SHOX2_ENST00000441443.2_5'UTR|SHOX2_ENST00000554685.1_5'UTR	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	11					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CTGGTCAAAAGACTTGGAGAC	0.617																																						uc003fbr.2		NA																	0					0						c.(31-33)TCT>TAT		short stature homeobox 2 isoform a							36.0	38.0	38.0					3																	157823782		1927	4120	6047	SO:0001583	missense	6474				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:157823782G>T	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"""Homeoboxes / PRD class"""	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.32C>A	3.37:g.157823782G>T	ENSP00000398704:p.Ser11Tyr					SHOX2_uc003fbs.2_Missense_Mutation_p.S11Y|SHOX2_uc010hvw.2_Missense_Mutation_p.S11Y	p.S11Y	NM_006884	NP_006875	O60902	SHOX2_HUMAN	Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)		1	171	-			11					O60465|O60467|O60903	Missense_Mutation	SNP	ENST00000425436.3	37	c.32C>A	CCDS43164.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516916	0.85495	.	.	ENSG00000168779;ENSG00000168779;ENSG00000258518	ENST00000425436;ENST00000389589;ENST00000483851	D;D;D	0.97870	-4.58;-4.58;-4.58	3.99	3.99	0.46301	.	0.000000	0.64402	D	0.000009	D	0.97770	0.9268	L	0.39245	1.2	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.85130	0.991;0.996;0.997	D	0.99150	1.0858	10	0.87932	D	0	.	16.0873	0.81065	0.0:0.0:1.0:0.0	.	11;11;11	O60902-2;O60902-3;O60902	.;.;SHOX2_HUMAN	Y	11	ENSP00000398704:S11Y;ENSP00000374240:S11Y;ENSP00000419362:S11Y	ENSP00000374240:S11Y	S	-	2	0	SHOX2;AC112502.1	159306476	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.146000	0.94640	1.938000	0.56188	0.561000	0.74099	TCT		0.617	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2			15	62	1	0	1.36e-06	2.06e-06	15	62				
WDR49	151790	broad.mit.edu	37	3	167196746	167196746	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:167196746T>G	ENST00000308378.3	-	15	2319	c.2014A>C	c.(2014-2016)Aag>Cag	p.K672Q	WDR49_ENST00000476376.1_Missense_Mutation_p.K497Q|SERPINI2_ENST00000476257.1_5'UTR|WDR49_ENST00000479765.1_3'UTR|WDR49_ENST00000453925.2_Missense_Mutation_p.K637Q	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	672										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AGAATTTCCTTGGGAAACAGG	0.308																																						uc003fev.1		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(2014-2016)AAG>CAG		WD repeat domain 49							77.0	73.0	74.0					3																	167196746		2202	4295	6497	SO:0001583	missense	151790							g.chr3:167196746T>G	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.2014A>C	3.37:g.167196746T>G	ENSP00000311343:p.Lys672Gln					WDR49_uc003feu.1_Missense_Mutation_p.K497Q|WDR49_uc011bpd.1_Missense_Mutation_p.K637Q|WDR49_uc003few.1_3'UTR	p.K672Q	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN			15	2320	-			672					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.2014A>C	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	T	12.14	1.849485	0.32699	.	.	ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925	T;T;T	0.66099	-0.19;1.05;-0.09	5.61	3.14	0.36123	.	0.149996	0.45867	D	0.000324	T	0.54351	0.1853	M	0.64997	1.995	0.19775	N	0.999955	B;B	0.27498	0.18;0.18	B;B	0.23150	0.031;0.044	T	0.52366	-0.8585	10	0.72032	D	0.01	.	7.1201	0.25440	0.0:0.0829:0.1453:0.7718	.	637;672	E7EQK3;Q8IV35	.;WDR49_HUMAN	Q	672;497;637	ENSP00000311343:K672Q;ENSP00000420508:K497Q;ENSP00000410863:K637Q	ENSP00000311343:K672Q	K	-	1	0	WDR49	168679440	1.000000	0.71417	0.997000	0.53966	0.031000	0.12232	2.334000	0.43920	0.372000	0.24591	-0.408000	0.06270	AAG		0.308	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		22	46	0	0	0	0	22	46				
WDR49	151790	broad.mit.edu	37	3	167250747	167250747	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:167250747A>T	ENST00000308378.3	-	8	1222	c.917T>A	c.(916-918)aTt>aAt	p.I306N	WDR49_ENST00000476376.1_Missense_Mutation_p.I131N|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.I370N	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	306										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CCATAGAACAATTTCTCCATC	0.373																																						uc003fev.1		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(916-918)ATT>AAT		WD repeat domain 49							114.0	98.0	103.0					3																	167250747		2203	4299	6502	SO:0001583	missense	151790							g.chr3:167250747A>T	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.917T>A	3.37:g.167250747A>T	ENSP00000311343:p.Ile306Asn					WDR49_uc003feu.1_Missense_Mutation_p.I131N|WDR49_uc011bpd.1_Missense_Mutation_p.I370N|WDR49_uc003few.1_Intron	p.I306N	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN			8	1223	-			306			WD 5.		Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.917T>A	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.67|16.67	3.186579|3.186579	0.57909|0.57909	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925|ENST00000472600	T;T;T|.	0.70164|.	-0.46;-0.46;-0.46|.	5.82|5.82	4.66|4.66	0.58398|0.58398	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);|.	0.049947|.	0.85682|.	D|.	0.000000|.	D|D	0.83229|0.83229	0.5209|0.5209	H|H	0.96080|0.96080	3.765|3.765	0.36553|0.36553	D|D	0.871973|0.871973	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.89247|0.89247	0.3588|0.3588	10|5	0.87932|.	D|.	0|.	.|.	11.1557|11.1557	0.48486|0.48486	0.9268:0.0:0.0732:0.0|0.9268:0.0:0.0732:0.0	.|.	370;306|.	E7EQK3;Q8IV35|.	.;WDR49_HUMAN|.	N|M	306;131;370|382	ENSP00000311343:I306N;ENSP00000420508:I131N;ENSP00000410863:I370N|.	ENSP00000311343:I306N|.	I|L	-|-	2|1	0|2	WDR49|WDR49	168733441|168733441	0.998000|0.998000	0.40836|0.40836	0.932000|0.932000	0.37286|0.37286	0.752000|0.752000	0.42762|0.42762	4.210000|4.210000	0.58500|0.58500	1.029000|1.029000	0.39812|0.39812	0.460000|0.460000	0.39030|0.39030	ATT|TTG		0.373	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		12	54	0	0	0	0	12	54				
LRRC34	151827	broad.mit.edu	37	3	169514002	169514002	+	Splice_Site	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:169514002G>C	ENST00000316515.7	-	8	1205	c.929C>G	c.(928-930)gCg>gGg	p.A310G	LRRC34_ENST00000522830.1_Splice_Site_p.A294G|RP11-362K14.7_ENST00000602913.1_RNA|LRRC34_ENST00000524327.1_5'UTR|RP11-362K14.6_ENST00000602835.1_RNA|LRRC34_ENST00000522526.2_Splice_Site_p.A323G|LRRC34_ENST00000446859.1_Splice_Site_p.A355G	NM_153353.4	NP_699184.2	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	310										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CCATACTAACGCTTTAAGACT	0.303																																						uc003ffx.2		NA																	0					0						c.(928-930)GCG>GGG		leucine rich repeat containing 34							85.0	86.0	85.0					3																	169514002		2203	4300	6503	SO:0001630	splice_region_variant	151827							g.chr3:169514002G>C	AK095125	CCDS3208.1, CCDS3208.2, CCDS54672.1	3q26.2	2014-03-18			ENSG00000171757	ENSG00000171757			28408	protein-coding gene	gene with protein product						12477932	Standard	NM_153353		Approved	MGC27085	uc003ffy.3	Q8IZ02	OTTHUMG00000164419	ENST00000316515.7:c.929+1C>G	3.37:g.169514002G>C						LRRC34_uc003ffy.2_Missense_Mutation_p.A342G|LRRC34_uc011bpn.1_Missense_Mutation_p.A342G|LRRC34_uc003ffz.2_Missense_Mutation_p.A294G|LRRC34_uc003fga.3_Missense_Mutation_p.A294G	p.A310G	NM_153353	NP_699184	Q8IZ02	LRC34_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		8	944	-	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		310					B4DEJ7|E9PBH2|G5E9T7	Missense_Mutation	SNP	ENST00000316515.7	37	c.929C>G		.	.	.	.	.	.	.	.	.	.	G	21.5	4.159057	0.78226	.	.	ENSG00000171757	ENST00000446859;ENST00000316515;ENST00000522830;ENST00000522526	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.47	3.66	0.41972	.	0.106949	0.64402	D	0.000009	T	0.63745	0.2537	M	0.74258	2.255	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.995;0.997;0.976;1.0;0.999	P;P;P;D;D	0.72338	0.855;0.759;0.858;0.977;0.951	T	0.62067	-0.6932	10	0.21540	T	0.41	-1.3146	12.166	0.54131	0.141:0.0:0.859:0.0	.	342;294;294;355;310	B4DHF2;B3KT77;G3V115;G5E9T7;Q8IZ02	.;.;.;.;LRC34_HUMAN	G	355;310;294;323	ENSP00000414635:A355G;ENSP00000326150:A310G;ENSP00000429593:A294G;ENSP00000429278:A323G	ENSP00000326150:A310G	A	-	2	0	LRRC34	170996696	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.967000	0.49216	1.308000	0.44962	-0.237000	0.12165	GCG		0.303	LRRC34-201	KNOWN	basic	protein_coding	protein_coding		NM_153353	Missense_Mutation	46	50	0	0	0	0	46	50				
TNIK	23043	broad.mit.edu	37	3	170789099	170789099	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:170789099C>T	ENST00000436636.2	-	29	3806	c.3462G>A	c.(3460-3462)agG>agA	p.R1154R	TNIK_ENST00000488470.1_Silent_p.R1099R|TNIK_ENST00000369326.5_Silent_p.R1132R|TNIK_ENST00000475336.1_Silent_p.R1062R|TNIK_ENST00000470834.1_Silent_p.R1117R|TNIK_ENST00000357327.5_Silent_p.R1125R|TNIK_ENST00000538048.1_Silent_p.R1106R|TNIK_ENST00000341852.6_Silent_p.R1070R|TNIK_ENST00000284483.8_Silent_p.R1146R|TNIK_ENST00000460047.1_Silent_p.R1091R	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1154	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AAAATTTGATCCTTTCATATT	0.294																																						uc003fhh.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(3460-3462)AGG>AGA		TRAF2 and NCK interacting kinase isoform 1							62.0	56.0	58.0					3																	170789099		1797	4058	5855	SO:0001819	synonymous_variant	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170789099C>T	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3462G>A	3.37:g.170789099C>T						TNIK_uc003fhi.2_Silent_p.R1099R|TNIK_uc003fhj.2_Silent_p.R1125R|TNIK_uc003fhk.2_Silent_p.R1146R|TNIK_uc003fhl.2_Silent_p.R1070R|TNIK_uc003fhm.2_Silent_p.R1091R|TNIK_uc003fhn.2_Silent_p.R1117R|TNIK_uc003fho.2_Silent_p.R1062R|TNIK_uc003fhg.2_Silent_p.R332R|TNIK_uc003fhp.2_Silent_p.R86R	p.R1154R	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		29	3807	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		1154			CNH.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	SNP	ENST00000436636.2	37	c.3462G>A	CCDS46956.1																																																																																				0.294	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		11	17	0	0	0	0	11	17				
SPATA16	83893	broad.mit.edu	37	3	172835472	172835472	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:172835472T>C	ENST00000351008.3	-	2	233	c.50A>G	c.(49-51)tAt>tGt	p.Y17C		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	17					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTGATCATGATAGATCCTATT	0.433																																						uc003fin.3		NA																	0				ovary(2)|skin(1)	3						c.(49-51)TAT>TGT		spermatogenesis associated 16							176.0	163.0	167.0					3																	172835472		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172835472T>C	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.50A>G	3.37:g.172835472T>C	ENSP00000341765:p.Tyr17Cys						p.Y17C	NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		2	208	-	Ovarian(172;0.00319)|Breast(254;0.197)		17					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.50A>G	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	T	1.121	-0.655195	0.03480	.	.	ENSG00000144962	ENST00000351008	T	0.17854	2.25	5.23	-7.99	0.01131	.	1.673070	0.03155	N	0.168474	T	0.08537	0.0212	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23904	-1.0175	10	0.30078	T	0.28	13.0684	7.0018	0.24813	0.2204:0.4703:0.0:0.3093	.	17	Q9BXB7	SPT16_HUMAN	C	17	ENSP00000341765:Y17C	ENSP00000341765:Y17C	Y	-	2	0	SPATA16	174318166	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.738000	0.01842	-1.479000	0.01867	-0.344000	0.07964	TAT		0.433	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		104	160	0	0	0	0	104	160				
MFN1	55669	broad.mit.edu	37	3	179107824	179107824	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:179107824A>T	ENST00000471841.1	+	17	2171	c.2045A>T	c.(2044-2046)cAa>cTa	p.Q682L	MFN1_ENST00000280653.7_Missense_Mutation_p.Q571L|MFN1_ENST00000263969.5_Missense_Mutation_p.Q682L	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	682					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CGCCTGTGCCAACAAGTTGAT	0.308																																						uc003fjs.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(2044-2046)CAA>CTA		mitofusin 1							62.0	67.0	65.0					3																	179107824		2203	4299	6502	SO:0001583	missense	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179107824A>T	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.2045A>T	3.37:g.179107824A>T	ENSP00000420617:p.Gln682Leu					MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.Q710L|MFN1_uc010hxc.2_Missense_Mutation_p.Q424L	p.Q682L	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		17	2171	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		682			Cytoplasmic (Potential).|Potential.		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	c.2045A>T	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.407249	0.83230	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000263969;ENST00000474903	D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07	5.97	4.8	0.61643	Fzo/mitofusin HR2 domain (1);	0.047245	0.85682	D	0.000000	D	0.97804	0.9279	M	0.80028	2.48	0.30840	N	0.73574	B;D;D	0.89917	0.054;1.0;1.0	B;D;D	0.91635	0.348;0.999;0.999	D	0.96359	0.9264	10	0.41790	T	0.15	-15.6004	13.3698	0.60707	0.8684:0.1316:0.0:0.0	.	571;710;682	Q8IWA4-3;Q4AEJ4;Q8IWA4	.;.;MFN1_HUMAN	L	682;571;682;434	ENSP00000420617:Q682L;ENSP00000280653:Q571L;ENSP00000263969:Q682L;ENSP00000419926:Q434L	ENSP00000263969:Q682L	Q	+	2	0	MFN1	180590518	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.618000	0.90932	1.049000	0.40321	0.533000	0.62120	CAA		0.308	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		15	80	0	0	0	0	15	80				
EIF2B5	8893	broad.mit.edu	37	3	183855540	183855540	+	Silent	SNP	G	G	A	rs376258328		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:183855540G>A	ENST00000273783.3	+	3	575	c.453G>A	c.(451-453)gtG>gtA	p.V151V	EIF2B5_ENST00000444495.1_Silent_p.V151V|EIF2B5_ENST00000498831.1_3'UTR|RP11-778D9.12_ENST00000608135.1_RNA|RP11-778D9.12_ENST00000608232.1_RNA	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	151					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TTCTTCTGGTGTATGGGGATG	0.473																																						uc003fmp.2		NA																	0				ovary(5)	5	GRCh37	CD051733	EIF2B5	D	rs113994052	c.(451-453)GTG>GTA		eukaryotic translation initiation factor 2B,		G		0,4406		0,0,2203	179.0	150.0	160.0		453	-0.9	1.0	3		160	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EIF2B5	NM_003907.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		151/722	183855540	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8893				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	g.chr3:183855540G>A	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.453G>A	3.37:g.183855540G>A						EIF2B5_uc003fmq.2_5'UTR	p.V151V	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		3	817	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		151					Q541Z1|Q96D04	Silent	SNP	ENST00000273783.3	37	c.453G>A	CCDS3252.1																																																																																				0.473	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			53	95	0	0	0	0	53	95				
UTS2B	257313	broad.mit.edu	37	3	190995894	190995894	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:190995894T>C	ENST00000340524.5	-	6	955	c.169A>G	c.(169-171)Aaa>Gaa	p.K57E	UTS2B_ENST00000427544.2_Missense_Mutation_p.K57E	NM_198152.3	NP_937795.2	Q765I0	UTS2B_HUMAN	urotensin 2B	57					regulation of blood pressure (GO:0008217)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)											TCAAAATTTTTATTCAGTAGA	0.284																																						uc003fsu.2		NA																	0					0						c.(169-171)AAA>GAA		urotensin 2 domain containing precursor							55.0	57.0	56.0					3																	190995894		2203	4292	6495	SO:0001583	missense	257313					extracellular region	hormone activity	g.chr3:190995894T>C	AB116021	CCDS3300.1	3q28	2013-02-28	2013-02-28	2013-02-28	ENSG00000188958	ENSG00000188958		"""Endogenous ligands"""	30894	protein-coding gene	gene with protein product	"""prepro-URP"""		"""urotensin 2 domain containing"""	UTS2D		14550283	Standard	NM_198152		Approved	URP, U2B	uc003fsu.3	Q765I0	OTTHUMG00000156192	ENST00000340524.5:c.169A>G	3.37:g.190995894T>C	ENSP00000340526:p.Lys57Glu						p.K57E	NM_198152	NP_937795	Q765I0	UTS2B_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000214)	6	956	-	all_cancers(143;1.77e-09)|Ovarian(172;0.103)		57					B3KQY8|D3DNW1|Q2M1Z2	Missense_Mutation	SNP	ENST00000340524.5	37	c.169A>G	CCDS3300.1	.	.	.	.	.	.	.	.	.	.	T	12.82	2.052397	0.36181	.	.	ENSG00000188958	ENST00000340524;ENST00000427544	T;T	0.56611	0.45;0.45	4.12	2.94	0.34122	.	1.524420	0.04207	N	0.331013	T	0.48077	0.1480	L	0.50333	1.59	0.09310	N	1	B	0.33694	0.421	B	0.30646	0.118	T	0.42783	-0.9431	10	0.62326	D	0.03	-0.4851	7.0123	0.24869	0.2017:0.0:0.0:0.7983	.	57	Q765I0	UTS2B_HUMAN	E	57	ENSP00000340526:K57E;ENSP00000398761:K57E	ENSP00000340526:K57E	K	-	1	0	UTS2D	192478588	0.009000	0.17119	0.007000	0.13788	0.187000	0.23431	2.051000	0.41307	0.903000	0.36546	0.477000	0.44152	AAA		0.284	UTS2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343353.1	NM_198152		17	15	0	0	0	0	17	15				
TFRC	7037	broad.mit.edu	37	3	195782076	195782076	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:195782076C>T	ENST00000360110.4	-	17	1943	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K	TFRC_ENST00000420415.1_Missense_Mutation_p.E511K|TFRC_ENST00000392396.3_Missense_Mutation_p.E592K|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.E310K	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	592	Ligand-binding.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	CCAGCGACCTCTGCAGCTGCT	0.458			T	BCL6	NHL																																	uc003fvz.3		NA		Dom	yes		3	3q29	7037	T	"""transferrin receptor (p90, CD71)"""			L	BCL6		NHL		0				ovary(3)	3						c.(1774-1776)GAG>AAG		transferrin receptor							196.0	179.0	185.0					3																	195782076		2203	4300	6503	SO:0001583	missense	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195782076C>T	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.1774G>A	3.37:g.195782076C>T	ENSP00000353224:p.Glu592Lys					TFRC_uc003fwa.3_Missense_Mutation_p.E592K|TFRC_uc010hzy.2_Missense_Mutation_p.E511K|TFRC_uc011btr.1_Missense_Mutation_p.E310K	p.E592K	NM_003234	NP_003225	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	17	2057	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		592			Extracellular (Potential).|Ligand-binding.		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	c.1774G>A	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932147	0.52866	.	.	ENSG00000072274	ENST00000426789;ENST00000360110;ENST00000420415;ENST00000392396;ENST00000535031	T;T;T;T;T	0.72615	-0.16;1.16;1.16;1.16;-0.67	5.34	5.34	0.76211	.	0.278041	0.41605	D	0.000854	D	0.82632	0.5079	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80460	-0.1373	10	0.21540	T	0.41	-27.6619	11.4885	0.50367	0.0:0.9179:0.0:0.0821	.	592	P02786	TFR1_HUMAN	K	4;592;511;592;310	ENSP00000414015:E4K;ENSP00000353224:E592K;ENSP00000390133:E511K;ENSP00000376197:E592K;ENSP00000437753:E310K	ENSP00000353224:E592K	E	-	1	0	TFRC	197266473	0.995000	0.38212	0.999000	0.59377	0.118000	0.20060	3.188000	0.50958	2.489000	0.83994	0.313000	0.20887	GAG		0.458	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			45	200	0	0	0	0	45	200				
UBXN7	26043	broad.mit.edu	37	3	196096339	196096339	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:196096339T>C	ENST00000296328.4	-	7	733	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	UBXN7_ENST00000428095.1_Missense_Mutation_p.Y58C|UBXN7_ENST00000535858.1_Missense_Mutation_p.Y72C	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	220						Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CCCTAACTTATAAAACTGTAT	0.353																																						uc003fwm.3		NA																	0				ovary(2)|pancreas(1)	3						c.(658-660)TAT>TGT		UBX domain containing 7							100.0	97.0	98.0					3																	196096339		1823	4084	5907	SO:0001583	missense	26043						protein binding	g.chr3:196096339T>C	AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.659A>G	3.37:g.196096339T>C	ENSP00000296328:p.Tyr220Cys					UBXN7_uc003fwn.3_Missense_Mutation_p.Y72C|UBXN7_uc010iae.2_Missense_Mutation_p.Y58C	p.Y220C	NM_015562	NP_056377	O94888	UBXN7_HUMAN			7	734	-			220					D3DXB3|Q6ZP77|Q86X20|Q8N327	Missense_Mutation	SNP	ENST00000296328.4	37	c.659A>G	CCDS43191.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.409219	0.83340	.	.	ENSG00000163960	ENST00000296328;ENST00000428095;ENST00000535858	T;T;T	0.57436	0.4;0.4;0.4	5.45	5.45	0.79879	UAS (1);	0.000000	0.85682	D	0.000000	T	0.78483	0.4290	M	0.92317	3.295	0.80722	D	1	D	0.71674	0.998	D	0.70227	0.968	D	0.84257	0.0481	10	0.87932	D	0	-14.6709	15.6711	0.77274	0.0:0.0:0.0:1.0	.	220	O94888	UBXN7_HUMAN	C	220;58;72	ENSP00000296328:Y220C;ENSP00000397256:Y58C;ENSP00000440716:Y72C	ENSP00000296328:Y220C	Y	-	2	0	UBXN7	197580736	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.645000	0.83430	2.285000	0.76669	0.477000	0.44152	TAT		0.353	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353		15	65	0	0	0	0	15	65				
NRROS	375387	broad.mit.edu	37	3	196388450	196388450	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:196388450C>A	ENST00000328557.4	+	3	2139	c.1936C>A	c.(1936-1938)Ctg>Atg	p.L646M		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	646					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GTGGGAGCGGCTGGACCTGGG	0.637																																						uc003fwv.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1936-1938)CTG>ATG		leucine rich repeat containing 33 precursor							80.0	88.0	85.0					3																	196388450		2203	4300	6503	SO:0001583	missense	375387					integral to membrane		g.chr3:196388450C>A	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1936C>A	3.37:g.196388450C>A	ENSP00000328625:p.Leu646Met						p.L646M	NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	3	2040	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		646			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000328557.4	37	c.1936C>A	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.686128	0.29962	.	.	ENSG00000174004	ENST00000328557	T	0.47869	0.83	5.67	4.8	0.61643	.	0.473871	0.22747	N	0.056135	T	0.33059	0.0850	N	0.14661	0.345	0.80722	D	1	P	0.34780	0.468	B	0.32864	0.154	T	0.17868	-1.0355	10	0.44086	T	0.13	.	16.314	0.82909	0.0:0.1488:0.8512:0.0	.	646	Q86YC3	LRC33_HUMAN	M	646	ENSP00000328625:L646M	ENSP00000328625:L646M	L	+	1	2	LRRC33	197872847	0.877000	0.30153	0.879000	0.34478	0.772000	0.43724	2.867000	0.48428	1.543000	0.49345	0.655000	0.94253	CTG		0.637	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		53	167	1	0	4.26e-23	7.88e-23	53	167				
ZNF518B	85460	broad.mit.edu	37	4	10445495	10445495	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:10445495C>A	ENST00000326756.3	-	3	2896	c.2458G>T	c.(2458-2460)Gac>Tac	p.D820Y		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	820					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AAGTCTGAGTCCGCCTGTCTC	0.468																																						uc003gmn.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(2458-2460)GAC>TAC		zinc finger protein 518B							95.0	93.0	94.0					4																	10445495		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445495C>A	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2458G>T	4.37:g.10445495C>A	ENSP00000317614:p.Asp820Tyr						p.D820Y	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN			3	2945	-			820					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.2458G>T	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	C	9.947	1.218995	0.22373	.	.	ENSG00000178163	ENST00000326756	T	0.01725	4.67	6.02	2.23	0.28157	.	0.549726	0.18559	N	0.137691	T	0.01800	0.0057	L	0.29908	0.895	0.09310	N	1	P	0.38582	0.638	B	0.39876	0.312	T	0.47736	-0.9094	10	0.62326	D	0.03	-9.4567	6.0459	0.19760	0.0:0.3799:0.3898:0.2303	.	820	Q9C0D4	Z518B_HUMAN	Y	820	ENSP00000317614:D820Y	ENSP00000317614:D820Y	D	-	1	0	ZNF518B	10054593	0.011000	0.17503	0.013000	0.15412	0.038000	0.13279	1.093000	0.30939	0.098000	0.17522	0.655000	0.94253	GAC		0.468	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		21	58	1	0	2.22e-12	3.77e-12	21	58				
LDB2	9079	broad.mit.edu	37	4	16513685	16513685	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:16513685G>A	ENST00000304523.5	-	6	981	c.658C>T	c.(658-660)Cat>Tat	p.H220Y	LDB2_ENST00000503178.2_Missense_Mutation_p.H96Y|LDB2_ENST00000502640.1_Missense_Mutation_p.H220Y|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000441778.2_Missense_Mutation_p.H220Y|LDB2_ENST00000515064.1_Missense_Mutation_p.H220Y	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	220					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TAAGTTTTATGTCTCGACATC	0.443																																						uc003goz.2		NA																	0					0						c.(658-660)CAT>TAT		LIM domain binding 2 isoform a							113.0	100.0	105.0					4																	16513685		2203	4300	6503	SO:0001583	missense	9079						LIM domain binding|transcription cofactor activity	g.chr4:16513685G>A	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.658C>T	4.37:g.16513685G>A	ENSP00000306772:p.His220Tyr					LDB2_uc003gpa.2_Missense_Mutation_p.H220Y|LDB2_uc003gpb.2_Missense_Mutation_p.H220Y|LDB2_uc011bxh.1_Missense_Mutation_p.H192Y|LDB2_uc010iee.2_Missense_Mutation_p.H220Y|LDB2_uc003goy.2_Missense_Mutation_p.H96Y|LDB2_uc011bxi.1_Missense_Mutation_p.H96Y	p.H220Y	NM_001290	NP_001281	O43679	LDB2_HUMAN			6	974	-			220					O60619|O75480	Missense_Mutation	SNP	ENST00000304523.5	37	c.658C>T	CCDS3420.1	.	.	.	.	.	.	.	.	.	.	G	34	5.312693	0.95655	.	.	ENSG00000169744	ENST00000515064;ENST00000441778;ENST00000304523;ENST00000502640;ENST00000503178	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.49167	0.1541	M	0.81802	2.56	0.80722	D	1	D;P;D;D;D;D;D	0.76494	0.996;0.925;0.999;0.99;0.999;0.992;0.99	D;D;D;D;D;D;D	0.71870	0.963;0.932;0.972;0.942;0.953;0.975;0.958	T	0.24870	-1.0148	10	0.21014	T	0.42	-15.0544	19.632	0.95713	0.0:0.0:1.0:0.0	.	96;186;220;220;220;220;196	B7Z2D3;B7Z6D0;E9PFI4;G5E9Y7;O43679-2;O43679;O43679-3	.;.;.;.;.;LDB2_HUMAN;.	Y	220;220;220;220;96	ENSP00000422552:H220Y;ENSP00000392089:H220Y;ENSP00000306772:H220Y;ENSP00000423963:H220Y;ENSP00000440940:H96Y	ENSP00000306772:H220Y	H	-	1	0	LDB2	16122783	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.890000	0.99128	0.650000	0.86243	CAT		0.443	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2			16	24	0	0	0	0	16	24				
UGT2B7	7364	broad.mit.edu	37	4	69973976	69973976	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:69973976G>A	ENST00000305231.7	+	5	1292	c.1246G>A	c.(1246-1248)Gac>Aac	p.D416N	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	416					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TGTTAGAGTGGACTTCAACAC	0.433																																						uc003heg.3		NA																	0				ovary(1)|skin(1)	2						c.(1246-1248)GAC>AAC		UDP glucuronosyltransferase 2B7 precursor							213.0	202.0	206.0					4																	69973976		2203	4300	6503	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69973976G>A	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000305231.7:c.1246G>A	4.37:g.69973976G>A	ENSP00000304811:p.Asp416Asn					UGT2B7_uc010ihq.2_Intron	p.D416N	NM_001074	NP_001065	P16662	UD2B7_HUMAN			5	1292	+			416					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000305231.7	37	c.1246G>A	CCDS3526.1	.	.	.	.	.	.	.	.	.	.	G	0.080	-1.185007	0.01620	.	.	ENSG00000171234	ENST00000305231	T	0.64260	-0.09	2.72	0.893	0.19236	.	0.273803	0.29699	N	0.011440	T	0.40498	0.1119	N	0.21142	0.635	0.09310	N	0.999999	B	0.16603	0.018	B	0.20955	0.032	T	0.15809	-1.0424	9	.	.	.	.	6.4232	0.21756	0.2839:0.0:0.7161:0.0	.	416	P16662	UD2B7_HUMAN	N	416	ENSP00000304811:D416N	.	D	+	1	0	UGT2B7	70008565	0.495000	0.26051	0.026000	0.17262	0.037000	0.13140	0.540000	0.23191	0.462000	0.27095	0.491000	0.48974	GAC		0.433	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251560.1	NM_001074		38	163	0	0	0	0	38	163				
UGT2B4	7363	broad.mit.edu	37	4	70346550	70346550	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:70346550C>A	ENST00000305107.6	-	6	1435	c.1389G>T	c.(1387-1389)tgG>tgT	p.W463C	UGT2B4_ENST00000381096.3_Missense_Mutation_p.W327C|AC108078.1_ENST00000583573.1_RNA|UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	463					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	CAAATTCAATCCAGAAGACTG	0.448																																						uc003hek.3		NA																	0				skin(2)	2						c.(1387-1389)TGG>TGT		UDP glucuronosyltransferase 2B4 precursor							124.0	123.0	123.0					4																	70346550		2203	4300	6503	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70346550C>A	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1389G>T	4.37:g.70346550C>A	ENSP00000305221:p.Trp463Cys					UGT2B4_uc011cap.1_Missense_Mutation_p.W327C|UGT2B4_uc003hel.3_3'UTR	p.W463C	NM_021139	NP_066962	P06133	UD2B4_HUMAN			6	1436	-			463					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.1389G>T	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312031	0.40895	.	.	ENSG00000156096	ENST00000305107;ENST00000381096	T;T	0.75589	-0.95;-0.95	2.11	2.11	0.27256	.	0.000000	0.64402	U	0.000004	D	0.89705	0.6792	H	0.98178	4.165	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91185	0.4979	10	0.87932	D	0	.	10.2729	0.43493	0.0:1.0:0.0:0.0	.	327;463	A6NCP7;P06133	.;UD2B4_HUMAN	C	463;327	ENSP00000305221:W463C;ENSP00000370486:W327C	ENSP00000305221:W463C	W	-	3	0	UGT2B4	70381139	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	6.866000	0.75506	1.508000	0.48769	0.305000	0.20034	TGG		0.448	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		74	131	1	0	6.72e-28	1.26e-27	74	131				
RCHY1	25898	broad.mit.edu	37	4	76415818	76415818	+	Silent	SNP	T	T	C	rs368131203		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:76415818T>C	ENST00000324439.5	-	8	1028	c.630A>G	c.(628-630)ccA>ccG	p.P210P	RCHY1_ENST00000380840.2_Silent_p.P170P|RCHY1_ENST00000512706.1_Silent_p.P188P|RCHY1_ENST00000513257.1_Silent_p.P201P|RCHY1_ENST00000451788.1_3'UTR|RCHY1_ENST00000514021.1_5'Flank	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	210					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GATATTCTGATGGCATAGGAG	0.408																																						uc003hik.2		NA																	0				pancreas(1)	1						c.(628-630)CCA>CCG		ring finger and CHY zinc finger domain		T	,,	0,4406		0,0,2203	181.0	161.0	168.0		,603,630	-11.7	0.4	4		168	3,8597	3.0+/-9.4	0,3,4297	no	utr-3,coding-synonymous,coding-synonymous	RCHY1	NM_001008925.2,NM_001009922.2,NM_015436.3	,,	0,3,6500	CC,CT,TT		0.0349,0.0,0.0231	,,	,201/253,210/262	76415818	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	25898				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:76415818T>C	AF255666	CCDS3567.1, CCDS34012.1, CCDS63990.1, CCDS63991.1, CCDS63992.1	4q21.1-q21.3	2014-02-17	2012-02-23	2004-03-30	ENSG00000163743	ENSG00000163743		"""RING-type (C3HC4) zinc fingers"""	17479	protein-coding gene	gene with protein product	"""androgen-receptor N-terminal-interacting protein"", ""p53-induced protein with a RING-H2 domain"", ""zinc finger, CHY-type"""	607680	"""zinc finger protein 363"", ""ring finger and CHY zinc finger domain containing 1"""	ZNF363		12654245	Standard	NM_015436		Approved	CHIMP, DKFZp586C1620, PRO1996, RNF199, ARNIP, PIRH2, ZCHY	uc003hik.3	Q96PM5	OTTHUMG00000130105	ENST00000324439.5:c.630A>G	4.37:g.76415818T>C						RCHY1_uc010iio.2_Silent_p.P106P|RCHY1_uc003hij.2_3'UTR|RCHY1_uc003hil.2_Silent_p.P201P|RCHY1_uc010iip.2_3'UTR|RCHY1_uc010iiq.2_RNA|RCHY1_uc010iir.2_Silent_p.P170P	p.P210P	NM_015436	NP_056251	Q96PM5	ZN363_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		8	762	-			210					B3KRG3|C7E541|C7E542|C7E543|D3YRV2|E7EMC8|E7ETW5|J3KPI0|Q2KN33|Q59GN7|Q86X26|Q96PR5	Silent	SNP	ENST00000324439.5	37	c.630A>G	CCDS3567.1																																																																																				0.408	RCHY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252411.2	NM_015436		7	62	0	0	0	0	7	62				
WDFY3	23001	broad.mit.edu	37	4	85654614	85654614	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:85654614C>G	ENST00000295888.4	-	44	7549	c.7142G>C	c.(7141-7143)aGg>aCg	p.R2381T	WDFY3_ENST00000322366.6_Missense_Mutation_p.R2381T	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2381	Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CATCTTTTTCCTCATCCTGCA	0.527																																						uc003hpd.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(7141-7143)AGG>ACG		WD repeat and FYVE domain containing 3 isoform							174.0	182.0	179.0					4																	85654614		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85654614C>G	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7142G>C	4.37:g.85654614C>G	ENSP00000295888:p.Arg2381Thr					WDFY3_uc003hpe.1_Missense_Mutation_p.R9T	p.R2381T	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	44	7550	-		Hepatocellular(203;0.114)	2381					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.7142G>C	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037215	0.93630	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	D;D;T	0.90261	-2.64;-2.64;-0.67	5.67	5.67	0.87782	Cyclin-like (1);	0.000000	0.85682	D	0.000000	D	0.95878	0.8658	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95884	0.8901	10	0.72032	D	0.01	.	19.7657	0.96340	0.0:1.0:0.0:0.0	.	2381	Q8IZQ1	WDFY3_HUMAN	T	2381;2381;1	ENSP00000318466:R2381T;ENSP00000295888:R2381T;ENSP00000424987:R1T	ENSP00000295888:R2381T	R	-	2	0	WDFY3	85873638	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.649000	0.89929	0.655000	0.94253	AGG		0.527	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		51	260	0	0	0	0	51	260				
WDFY3	23001	broad.mit.edu	37	4	85657475	85657475	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:85657475C>A	ENST00000295888.4	-	42	7170	c.6763G>T	c.(6763-6765)Gaa>Taa	p.E2255*	WDFY3_ENST00000322366.6_Nonsense_Mutation_p.E2255*	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2255					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CATTTCTTTTCATGGGCTATT	0.353																																						uc003hpd.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(6763-6765)GAA>TAA		WD repeat and FYVE domain containing 3 isoform							111.0	105.0	107.0					4																	85657475		2203	4300	6503	SO:0001587	stop_gained	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85657475C>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.6763G>T	4.37:g.85657475C>A	ENSP00000295888:p.Glu2255*					WDFY3_uc003hpe.1_5'Flank	p.E2255*	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	42	7171	-		Hepatocellular(203;0.114)	2255					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Nonsense_Mutation	SNP	ENST00000295888.4	37	c.6763G>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	50	16.465029	0.99864	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6142	0.95626	0.0:1.0:0.0:0.0	.	.	.	.	X	2255	.	ENSP00000295888:E2255X	E	-	1	0	WDFY3	85876499	1.000000	0.71417	0.999000	0.59377	0.850000	0.48378	7.278000	0.78587	2.941000	0.99782	0.655000	0.94253	GAA		0.353	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		14	25	1	0	9.31e-06	1.38e-05	14	25				
PTPN13	5783	broad.mit.edu	37	4	87728986	87728986	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:87728986C>G	ENST00000411767.2	+	45	7082	c.7019C>G	c.(7018-7020)gCt>gGt	p.A2340G	PTPN13_ENST00000511467.1_Missense_Mutation_p.A2345G|PTPN13_ENST00000436978.1_Missense_Mutation_p.A2345G|PTPN13_ENST00000316707.6_Missense_Mutation_p.A2149G|PTPN13_ENST00000427191.2_Missense_Mutation_p.A2321G			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2340	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CTTCGACTGGCTCTTGTGAGA	0.448																																						uc003hpz.2		NA																	0				ovary(4)|breast(1)|kidney(1)	6						c.(7018-7020)GCT>GGT		protein tyrosine phosphatase, non-receptor type							90.0	88.0	89.0					4																	87728986		2010	4188	6198	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87728986C>G		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.7019C>G	4.37:g.87728986C>G	ENSP00000407249:p.Ala2340Gly					PTPN13_uc003hpy.2_Missense_Mutation_p.A2345G|PTPN13_uc003hqa.2_Missense_Mutation_p.A2321G|PTPN13_uc003hqb.2_Missense_Mutation_p.A2149G	p.A2340G	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	45	7499	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	2340			Tyrosine-protein phosphatase.		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.7019C>G	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436583	0.62955	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	5.66	5.66	0.87406	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.51477	D	0.000095	T	0.75568	0.3867	N	0.11673	0.155	0.47245	D	0.99936	P;B;P;P	0.43287	0.802;0.257;0.799;0.76	B;B;B;B	0.44224	0.38;0.25;0.444;0.316	T	0.78342	-0.2241	10	0.46703	T	0.11	.	19.7461	0.96252	0.0:1.0:0.0:0.0	.	2149;2321;2340;2345	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	G	2321;2345;2149;2340;2345;2289	ENSP00000408368:A2321G;ENSP00000394794:A2345G;ENSP00000322675:A2149G;ENSP00000407249:A2340G;ENSP00000426626:A2345G	ENSP00000322675:A2149G	A	+	2	0	PTPN13	87948010	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	4.813000	0.62620	2.645000	0.89757	0.650000	0.86243	GCT		0.448	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			24	90	0	0	0	0	24	90				
UNC5C	8633	broad.mit.edu	37	4	96222797	96222797	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:96222797C>A	ENST00000453304.1	-	3	798	c.450G>T	c.(448-450)gcG>gcT	p.A150A	UNC5C_ENST00000506749.1_Silent_p.A150A|UNC5C_ENST00000504962.1_Silent_p.A150A	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	150	Ig-like.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTGTGGTACCCGCGGAGCTCC	0.502																																						uc003htp.1		NA																	0				ovary(3)|pancreas(1)	4						c.(448-450)GCG>GCT		unc5C precursor							98.0	82.0	88.0					4																	96222797		2203	4300	6503	SO:0001819	synonymous_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96222797C>A	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.450G>T	4.37:g.96222797C>A						UNC5C_uc010ilc.1_Silent_p.A150A|UNC5C_uc003htq.2_Silent_p.A150A	p.A150A	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	3	604	-		Hepatocellular(203;0.114)	150			Extracellular (Potential).|Ig-like.		Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.450G>T	CCDS3643.1																																																																																				0.502	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		26	24	1	0	0.000586117	0.000820836	26	24				
UNC5C	8633	broad.mit.edu	37	4	96469982	96469982	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:96469982C>T	ENST00000453304.1	-	1	375	c.27G>A	c.(25-27)gcG>gcA	p.A9A	UNC5C_ENST00000506749.1_Silent_p.A9A|UNC5C_ENST00000504962.1_Silent_p.A9A|RP11-710C12.1_ENST00000605849.1_RNA	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	9					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CGCAGCGGGCCGCTGTCGCCC	0.667																																						uc003htp.1		NA																	0				ovary(3)|pancreas(1)	4						c.(25-27)GCG>GCA		unc5C precursor							55.0	63.0	60.0					4																	96469982		2203	4300	6503	SO:0001819	synonymous_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96469982C>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.27G>A	4.37:g.96469982C>T						UNC5C_uc010ilc.1_Silent_p.A9A|UNC5C_uc003htq.2_Silent_p.A9A	p.A9A	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	1	181	-		Hepatocellular(203;0.114)	9					Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.27G>A	CCDS3643.1																																																																																				0.667	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		60	49	0	0	0	0	60	49				
ANK2	287	broad.mit.edu	37	4	114278239	114278239	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:114278239C>T	ENST00000357077.4	+	38	8518	c.8465C>T	c.(8464-8466)aCa>aTa	p.T2822I	ANK2_ENST00000264366.6_Missense_Mutation_p.T2789I|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2822					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAAAAAGACACAGAGGGAGAA	0.438																																						uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(8464-8466)ACA>ATA		ankyrin 2 isoform 1							102.0	101.0	101.0					4																	114278239		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114278239C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8465C>T	4.37:g.114278239C>T	ENSP00000349588:p.Thr2822Ile					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.T124I|ANK2_uc011cgb.1_Missense_Mutation_p.T2837I	p.T2822I	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	8565	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2789					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.8465C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	6.516	0.463375	0.12402	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.65732	-0.15;-0.17	5.35	-2.03	0.07365	.	1.348330	0.04936	N	0.457698	T	0.46927	0.1418	L	0.41824	1.3	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.13255	-1.0516	9	.	.	.	.	2.5702	0.04792	0.1195:0.3051:0.1181:0.4572	.	2789;2822	Q01484;Q01484-4	ANK2_HUMAN;.	I	2822;2789	ENSP00000349588:T2822I;ENSP00000264366:T2789I	.	T	+	2	0	ANK2	114497688	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	0.111000	0.15458	-0.427000	0.07350	-0.142000	0.14014	ACA		0.438	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		62	51	0	0	0	0	62	51				
NDST3	9348	broad.mit.edu	37	4	118975167	118975167	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:118975167C>T	ENST00000296499.5	+	2	505	c.102C>T	c.(100-102)taC>taT	p.Y34Y	NDST3_ENST00000433996.2_Silent_p.Y34Y	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	34					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ACTACCTGTACAGTGGCTACA	0.413																																						uc003ibx.2		NA																	0				large_intestine(1)	1						c.(100-102)TAC>TAT		N-deacetylase/N-sulfotransferase (heparan							128.0	122.0	124.0					4																	118975167		2203	4299	6502	SO:0001819	synonymous_variant	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:118975167C>T	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.102C>T	4.37:g.118975167C>T						NDST3_uc011cgf.1_Silent_p.Y34Y|NDST3_uc003ibw.2_Silent_p.Y34Y	p.Y34Y	NM_004784	NP_004775	O95803	NDST3_HUMAN			2	505	+			34			Helical; Signal-anchor for type II membrane protein; (Potential).		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Silent	SNP	ENST00000296499.5	37	c.102C>T	CCDS3708.1																																																																																				0.413	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		23	94	0	0	0	0	23	94				
NDST3	9348	broad.mit.edu	37	4	118975575	118975575	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:118975575G>T	ENST00000296499.5	+	2	913	c.510G>T	c.(508-510)aaG>aaT	p.K170N	NDST3_ENST00000433996.2_Missense_Mutation_p.K170N	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	170	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTAGTGAGAAGAGTGTACAGA	0.348																																						uc003ibx.2		NA																	0				large_intestine(1)	1						c.(508-510)AAG>AAT		N-deacetylase/N-sulfotransferase (heparan							65.0	64.0	64.0					4																	118975575		2203	4299	6502	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:118975575G>T	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.510G>T	4.37:g.118975575G>T	ENSP00000296499:p.Lys170Asn					NDST3_uc011cgf.1_Missense_Mutation_p.K170N|NDST3_uc003ibw.2_Missense_Mutation_p.K170N	p.K170N	NM_004784	NP_004775	O95803	NDST3_HUMAN			2	913	+			170			Lumenal (Potential).|Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.510G>T	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	G	1.130	-0.652649	0.03480	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.39592	1.39;1.07	5.3	0.0369	0.14194	.	0.093509	0.64402	D	0.000001	T	0.04770	0.0129	N	0.00032	-2.585	0.36271	D	0.855196	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.08055	0.001;0.001;0.003	T	0.33548	-0.9864	10	0.02654	T	1	.	1.5161	0.02506	0.2884:0.3052:0.2866:0.1198	.	170;170;170	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	N	170	ENSP00000296499:K170N;ENSP00000396625:K170N	ENSP00000296499:K170N	K	+	3	2	NDST3	119195023	1.000000	0.71417	0.616000	0.29078	0.896000	0.52359	1.591000	0.36665	0.213000	0.20722	-0.140000	0.14226	AAG		0.348	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		23	36	1	0	1.11e-09	1.81e-09	23	36				
HSPA4L	22824	broad.mit.edu	37	4	128726265	128726265	+	Silent	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:128726265A>T	ENST00000296464.4	+	9	1434	c.1023A>T	c.(1021-1023)gtA>gtT	p.V341V	HSPA4L_ENST00000508776.1_Silent_p.V341V|HSPA4L_ENST00000505726.1_Silent_p.V315V|HSPA4L_ENST00000439123.2_Silent_p.V372V	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	341					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						TAGAAATTGTAGGAGGAGCAA	0.328																																						uc003ifm.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1021-1023)GTA>GTT		heat shock 70kDa protein 4-like							49.0	48.0	48.0					4																	128726265		2203	4299	6502	SO:0001819	synonymous_variant	22824				protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding	g.chr4:128726265A>T	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.1023A>T	4.37:g.128726265A>T						HSPA4L_uc010iny.1_Silent_p.V300V|HSPA4L_uc011cgr.1_Silent_p.V308V	p.V341V	NM_014278	NP_055093	O95757	HS74L_HUMAN			9	1276	+			341					A2ICT2|Q4W5M5|Q8IWA2	Silent	SNP	ENST00000296464.4	37	c.1023A>T	CCDS3734.1																																																																																				0.328	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		20	15	0	0	0	0	20	15				
RNF150	57484	broad.mit.edu	37	4	141847144	141847144	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:141847144G>T	ENST00000515673.2	-	5	1007	c.974C>A	c.(973-975)gCc>gAc	p.A325D	RNF150_ENST00000420921.2_Missense_Mutation_p.A184D|RNF150_ENST00000507500.1_Missense_Mutation_p.A325D|RNF150_ENST00000379512.2_Missense_Mutation_p.A184D|RNF150_ENST00000306799.3_Missense_Mutation_p.A283D			Q9ULK6	RN150_HUMAN	ring finger protein 150	325						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GATCCCTAGGGCTTTAAGAAT	0.468																																						uc003iio.1		NA																	0				ovary(1)	1						c.(973-975)GCC>GAC		ring finger protein 150 precursor							153.0	145.0	147.0					4																	141847144		2203	4300	6503	SO:0001583	missense	57484					integral to membrane	zinc ion binding	g.chr4:141847144G>T	AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"""RING-type (C3HC4) zinc fingers"""	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.974C>A	4.37:g.141847144G>T	ENSP00000425840:p.Ala325Asp					RNF150_uc010iok.1_Missense_Mutation_p.A283D|RNF150_uc003iip.1_Missense_Mutation_p.A325D	p.A325D	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN			5	1628	-	all_hematologic(180;0.162)		325			Cytoplasmic (Potential).		Q3T1D0|Q6ZNW6	Missense_Mutation	SNP	ENST00000515673.2	37	c.974C>A	CCDS34065.1	.	.	.	.	.	.	.	.	.	.	G	33	5.207914	0.95033	.	.	ENSG00000170153	ENST00000379512;ENST00000420921;ENST00000306799;ENST00000515673;ENST00000507500;ENST00000506101	T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.73393	0.3581	N	0.20766	0.605	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.996	D;D;D	0.80764	0.991;0.994;0.922	T	0.75720	-0.3219	10	0.62326	D	0.03	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	283;325;325	Q9ULK6-2;Q9ULK6-3;Q9ULK6	.;.;RN150_HUMAN	D	184;184;283;325;325;156	ENSP00000368827:A184D;ENSP00000394581:A184D;ENSP00000304321:A283D;ENSP00000425840:A325D;ENSP00000425568:A325D;ENSP00000425947:A156D	ENSP00000304321:A283D	A	-	2	0	RNF150	142066594	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.540000	0.98080	2.824000	0.97209	0.655000	0.94253	GCC		0.468	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090		10	99	1	0	2.81e-09	4.56e-09	10	99				
DCLK2	166614	broad.mit.edu	37	4	151142904	151142904	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:151142904G>T	ENST00000296550.7	+	7	1962	c.1208G>T	c.(1207-1209)gGc>gTc	p.G403V	DCLK2_ENST00000506325.1_Missense_Mutation_p.G402V|DCLK2_ENST00000302176.8_Missense_Mutation_p.G420V	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	403	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ATTGGTGATGGCAATTTTGCA	0.338																																					GBM(195;186 2215 13375 16801 37459)	uc003ilm.3		NA																	0				ovary(3)	3						c.(1207-1209)GGC>GTC		doublecortin-like kinase 2 isoform a							122.0	123.0	123.0					4																	151142904		2203	4300	6503	SO:0001583	missense	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151142904G>T	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1208G>T	4.37:g.151142904G>T	ENSP00000296550:p.Gly403Val					DCLK2_uc003iln.3_Missense_Mutation_p.G402V|DCLK2_uc003ilo.3_Missense_Mutation_p.G420V|DCLK2_uc003ilp.3_RNA	p.G403V	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN			7	1308	+	all_hematologic(180;0.151)		403			ATP (By similarity).|Protein kinase.		C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	ENST00000296550.7	37	c.1208G>T	CCDS34076.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644338	0.87859	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	D;D;D	0.90788	-2.73;-2.73;-2.73	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98086	0.9369	H	0.99783	4.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.98776	1.0730	10	0.87932	D	0	.	20.4745	0.99168	0.0:0.0:1.0:0.0	.	420;402;403	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	V	403;402;420	ENSP00000296550:G403V;ENSP00000427235:G402V;ENSP00000303887:G420V	ENSP00000296550:G403V	G	+	2	0	DCLK2	151362354	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.275000	0.89892	2.941000	0.99782	0.655000	0.94253	GGC		0.338	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260		7	29	1	0	0.000157383	0.000223702	7	29				
TMEM154	201799	broad.mit.edu	37	4	153565566	153565566	+	Splice_Site	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:153565566C>T	ENST00000304385.3	-	4	624		c.e4+1			NM_152680.2	NP_689893.1	Q6P9G4	TM154_HUMAN	transmembrane protein 154							integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GGAAAACTTACACTTTCACGT	0.413																																						uc003imw.1		NA																	0					0						c.e4+1		transmembrane protein 154 precursor							119.0	98.0	105.0					4																	153565566		2203	4300	6503	SO:0001630	splice_region_variant	201799					integral to membrane		g.chr4:153565566C>T	AK056590	CCDS3779.1	4q31.3	2008-02-05			ENSG00000170006	ENSG00000170006			26489	protein-coding gene	gene with protein product						12477932	Standard	NM_152680		Approved	FLJ32028	uc003imw.2	Q6P9G4	OTTHUMG00000161463	ENST00000304385.3:c.392+1G>A	4.37:g.153565566C>T							p.V131_splice	NM_152680	NP_689893	Q6P9G4	TM154_HUMAN			4	498	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)						Q8WUT7|Q96MQ8	Splice_Site	SNP	ENST00000304385.3	37	c.392_splice	CCDS3779.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.596485	0.28445	.	.	ENSG00000170006	ENST00000304385	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8484	0.70277	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM154	153785016	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	4.151000	0.58105	2.644000	0.89710	0.563000	0.77884	.		0.413	TMEM154-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365024.1	NM_152680	Intron	9	23	0	0	0	0	9	23				
DCHS2	54798	broad.mit.edu	37	4	155219268	155219268	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:155219268G>T	ENST00000357232.4	-	18	4832	c.4833C>A	c.(4831-4833)gaC>gaA	p.D1611E		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1611	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGGCCCCAAGTCCAGGTCAT	0.418																																						uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(4831-4833)GAC>GAA		dachsous 2 isoform 1							87.0	88.0	88.0					4																	155219268		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155219268G>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4833C>A	4.37:g.155219268G>T	ENSP00000349768:p.Asp1611Glu						p.D1611E	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	18	4833	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1611			Cadherin 14.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.4833C>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756860	0.31137	.	.	ENSG00000197410	ENST00000357232	T	0.70749	-0.51	5.66	-2.21	0.06973	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.84977	0.5592	M	0.92784	3.345	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.85032	0.0918	10	0.87932	D	0	.	13.1075	0.59255	0.5378:0.0:0.4622:0.0	.	1611	Q6V1P9	PCD23_HUMAN	E	1611	ENSP00000349768:D1611E	ENSP00000349768:D1611E	D	-	3	2	DCHS2	155438718	0.179000	0.23135	0.005000	0.12908	0.032000	0.12392	0.516000	0.22817	-0.778000	0.04566	-0.749000	0.03505	GAC		0.418	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		36	30	1	0	1.08e-12	1.84e-12	36	30				
DCHS2	54798	broad.mit.edu	37	4	155226261	155226261	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:155226261A>G	ENST00000357232.4	-	16	4017	c.4018T>C	c.(4018-4020)Ttc>Ctc	p.F1340L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1340	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CGAAGGGTGAAGACTTCTTGA	0.323																																						uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(4018-4020)TTC>CTC		dachsous 2 isoform 1							42.0	42.0	42.0					4																	155226261		2203	4299	6502	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155226261A>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4018T>C	4.37:g.155226261A>G	ENSP00000349768:p.Phe1340Leu						p.F1340L	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	16	4018	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1340			Cadherin 11.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.4018T>C	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.971347	0.53614	.	.	ENSG00000197410	ENST00000357232	T	0.52983	0.64	5.93	4.77	0.60923	Cadherin (4);Cadherin-like (1);	0.075442	0.56097	N	0.000039	T	0.42653	0.1212	L	0.45137	1.4	0.80722	D	1	B	0.29162	0.235	B	0.34824	0.19	T	0.28933	-1.0028	10	0.40728	T	0.16	.	10.9447	0.47294	0.9253:0.0:0.0747:0.0	.	1340	Q6V1P9	PCD23_HUMAN	L	1340	ENSP00000349768:F1340L	ENSP00000349768:F1340L	F	-	1	0	DCHS2	155445711	0.998000	0.40836	0.718000	0.30602	0.922000	0.55478	3.488000	0.53229	1.085000	0.41206	0.533000	0.62120	TTC		0.323	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		18	18	0	0	0	0	18	18				
CLCN3	1182	broad.mit.edu	37	4	170608837	170608837	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:170608837G>T	ENST00000513761.1	+	4	906	c.347G>T	c.(346-348)tGg>tTg	p.W116L	CLCN3_ENST00000347613.4_Missense_Mutation_p.W116L|CLCN3_ENST00000504131.2_Missense_Mutation_p.W99L|CLCN3_ENST00000360642.3_Missense_Mutation_p.W116L	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	116					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GAATCAGCATGGGAAATGACA	0.343																																						uc003isi.2		NA																	0				breast(2)|ovary(1)	3						c.(346-348)TGG>TTG		chloride channel 3 isoform b							119.0	112.0	114.0					4																	170608837		2203	4300	6503	SO:0001583	missense	1182				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170608837G>T	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.347G>T	4.37:g.170608837G>T	ENSP00000424603:p.Trp116Leu					CLCN3_uc003ish.2_Missense_Mutation_p.W116L|CLCN3_uc011cjz.1_Missense_Mutation_p.W99L|CLCN3_uc011cka.1_Missense_Mutation_p.W116L|CLCN3_uc003isj.1_Missense_Mutation_p.W89L	p.W116L	NM_001829	NP_001820	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	4	856	+		Prostate(90;0.00601)|Renal(120;0.0183)	116			Cytoplasmic (By similarity).		B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	c.347G>T	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408347	0.62399	.	.	ENSG00000109572	ENST00000511092;ENST00000513761;ENST00000347613;ENST00000360642;ENST00000512813;ENST00000538301;ENST00000504131;ENST00000507875	D;D;D;D;D;D;D	0.90844	-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74	5.29	5.29	0.74685	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.85358	0.5678	N	0.21583	0.68	0.80722	D	1	B;B;B;B;B	0.11235	0.001;0.001;0.001;0.001;0.004	B;B;B;B;B	0.14578	0.005;0.003;0.005;0.005;0.011	T	0.79640	-0.1719	10	0.31617	T	0.26	-3.8469	18.9358	0.92584	0.0:0.0:1.0:0.0	.	116;99;89;116;116	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	L	116;116;116;116;116;116;99;89	ENSP00000425160:W116L;ENSP00000424603:W116L;ENSP00000261514:W116L;ENSP00000353857:W116L;ENSP00000425823:W116L;ENSP00000424540:W99L;ENSP00000425323:W89L	ENSP00000261514:W116L	W	+	2	0	CLCN3	170845412	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.469000	0.83416	0.557000	0.71058	TGG		0.343	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			12	9	1	0	0.000308642	0.000433586	12	9				
GALNTL6	442117	broad.mit.edu	37	4	173873273	173873273	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:173873273C>G	ENST00000506823.1	+	10	1892	c.1235C>G	c.(1234-1236)aCg>aGg	p.T412R	GALNTL6_ENST00000508122.1_Missense_Mutation_p.T395R	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	412					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CATCTCTCCACGGGGGACATC	0.557																																						uc003isv.2		NA																	0				breast(2)|ovary(1)|skin(1)	4						c.(1234-1236)ACG>AGG		N-acetylgalactosaminyltransferase-like 6							50.0	55.0	53.0					4																	173873273		2203	4300	6503	SO:0001583	missense	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173873273C>G		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1235C>G	4.37:g.173873273C>G	ENSP00000423313:p.Thr412Arg						p.T412R	NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN			10	1971	+			412			Lumenal (Potential).		Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	c.1235C>G	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	c	26.4	4.730236	0.89390	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.70749	-0.51;-0.51	5.2	5.2	0.72013	.	0.074663	0.56097	D	0.000032	T	0.57799	0.2078	N	0.21282	0.65	0.80722	D	1	P	0.42620	0.785	B	0.36464	0.225	T	0.59166	-0.7505	10	0.30854	T	0.27	.	19.096	0.93251	0.0:1.0:0.0:0.0	.	412	Q49A17	GLTL6_HUMAN	R	412;395	ENSP00000423313:T412R;ENSP00000423827:T395R	ENSP00000423313:T412R	T	+	2	0	GALNTL6	174109848	1.000000	0.71417	0.956000	0.39512	0.967000	0.64934	5.852000	0.69488	2.582000	0.87167	0.297000	0.19635	ACG		0.557	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		14	65	0	0	0	0	14	65				
VEGFC	7424	broad.mit.edu	37	4	177605117	177605117	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:177605117C>G	ENST00000280193.2	-	7	1638	c.1223G>C	c.(1222-1224)tGt>tCt	p.C408S	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	408					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TGAAGGGACACAACGACACAC	0.418																																						uc003ius.1		NA																	0				lung(5)	5						c.(1222-1224)TGT>TCT		vascular endothelial growth factor C							139.0	129.0	132.0					4																	177605117		1898	4125	6023	SO:0001583	missense	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177605117C>G	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.1223G>C	4.37:g.177605117C>G	ENSP00000280193:p.Cys408Ser						p.C408S	NM_005429	NP_005420	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	7	1653	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	408					B2R9Q8	Missense_Mutation	SNP	ENST00000280193.2	37	c.1223G>C	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387071	0.82902	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.57	5.57	0.84162	.	0.052687	0.85682	D	0.000000	T	0.74824	0.3767	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	P	0.59115	0.852	T	0.76377	-0.2981	9	0.87932	D	0	-9.2864	19.9225	0.97093	0.0:1.0:0.0:0.0	.	408	P49767	VEGFC_HUMAN	S	408	.	ENSP00000280193:C408S	C	-	2	0	VEGFC	177842111	1.000000	0.71417	1.000000	0.80357	0.573000	0.36030	6.785000	0.75089	2.780000	0.95670	0.655000	0.94253	TGT		0.418	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		43	38	0	0	0	0	43	38				
VEGFC	7424	broad.mit.edu	37	4	177649124	177649124	+	Splice_Site	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:177649124T>A	ENST00000280193.2	-	3	777		c.e3-2		VEGFC_ENST00000507638.1_Splice_Site	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C						angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TATCAATACCTGTCAAGTCAT	0.413																																						uc003ius.1		NA																	0				lung(5)	5						c.e3-1		vascular endothelial growth factor C							67.0	65.0	66.0					4																	177649124		1907	4132	6039	SO:0001630	splice_region_variant	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177649124T>A	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.362-2A>T	4.37:g.177649124T>A							p.S121_splice	NM_005429	NP_005420	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	3	792	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)						B2R9Q8	Splice_Site	SNP	ENST00000280193.2	37	c.362_splice	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.778942	0.49891	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8976	0.79346	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	VEGFC	177886118	1.000000	0.71417	1.000000	0.80357	0.415000	0.31203	7.655000	0.83696	2.212000	0.71576	0.528000	0.53228	.		0.413	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429	Intron	18	45	0	0	0	0	18	45				
ZFP42	132625	broad.mit.edu	37	4	188924027	188924027	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr4:188924027C>A	ENST00000326866.4	+	4	474	c.66C>A	c.(64-66)ccC>ccA	p.P22P	ZFP42_ENST00000509524.1_Silent_p.P22P	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	22					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAGAGCCCCCAGTGGGGCTA	0.552																																						uc003izg.1		NA																	0				ovary(1)|skin(1)	2						c.(64-66)CCC>CCA		zinc finger protein 42							68.0	70.0	69.0					4																	188924027		2203	4300	6503	SO:0001819	synonymous_variant	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924027C>A	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.66C>A	4.37:g.188924027C>A						ZFP42_uc003izh.1_Silent_p.P22P|ZFP42_uc003izi.1_Silent_p.P22P	p.P22P	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	311	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	22					D3DP65|Q8WXE2	Silent	SNP	ENST00000326866.4	37	c.66C>A	CCDS3849.1																																																																																				0.552	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		16	88	1	0	3.53e-06	5.28e-06	16	88				
SLC6A18	348932	broad.mit.edu	37	5	1244767	1244767	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:1244767C>A	ENST00000324642.3	+	11	1664	c.1541C>A	c.(1540-1542)cCc>cAc	p.P514H		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	514					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGGCCCAGCCCCTACTGGCGG	0.602																																						uc003jby.1		NA																	0				ovary(1)	1						c.(1540-1542)CCC>CAC		solute carrier family 6, member 18							52.0	55.0	54.0					5																	1244767		2203	4300	6503	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1244767C>A	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1541C>A	5.37:g.1244767C>A	ENSP00000323549:p.Pro514His						p.P514H	NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		11	1664	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		514			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000324642.3	37	c.1541C>A	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	C	9.878	1.200870	0.22121	.	.	ENSG00000164363	ENST00000324642	T	0.74737	-0.87	4.37	3.22	0.36961	.	0.275964	0.29480	N	0.012021	T	0.76521	0.3999	M	0.72118	2.19	0.80722	D	1	D	0.54601	0.967	P	0.54590	0.756	T	0.71510	-0.4571	10	0.16896	T	0.51	.	7.4763	0.27378	0.0:0.1048:0.0:0.8952	.	514	Q96N87	S6A18_HUMAN	H	514	ENSP00000323549:P514H	ENSP00000323549:P514H	P	+	2	0	SLC6A18	1297767	0.983000	0.35010	0.347000	0.25668	0.013000	0.08279	3.282000	0.51693	0.565000	0.29255	-0.367000	0.07326	CCC		0.602	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		17	127	1	0	7.08e-05	0.000101615	17	127				
C5orf38	153571	broad.mit.edu	37	5	2752749	2752749	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:2752749A>T	ENST00000334000.3	+	2	331	c.214A>T	c.(214-216)Aaa>Taa	p.K72*	C5orf38_ENST00000457752.2_Intron|IRX2_ENST00000302057.5_5'Flank|IRX2_ENST00000502957.1_Intron|C5orf38_ENST00000515640.1_Nonsense_Mutation_p.K72*|C5orf38_ENST00000505778.1_Nonsense_Mutation_p.K72*|IRX2_ENST00000382611.6_5'Flank|C5orf38_ENST00000397835.4_Nonsense_Mutation_p.K72*	NM_178569.2	NP_848664.1	Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	72						extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		TGTGTTGTCAAAACACTGGGG	0.507																																						uc003jdc.2		NA																	0					0						c.(214-216)AAA>TAA		hypothetical protein LOC153571 precursor							66.0	77.0	73.0					5																	2752749		2203	4300	6503	SO:0001587	stop_gained	153571					extracellular region		g.chr5:2752749A>T	AY249324	CCDS34131.1	5p15.33	2014-06-02			ENSG00000186493	ENSG00000186493			24226	protein-coding gene	gene with protein product	"""coordinated expression to IRX2"", ""IRX2 neighbor"""	610522				16515847, 16750006	Standard	XM_005248256		Approved	CEI, IRX2NB	uc003jdc.3	Q86SI9	OTTHUMG00000161741	ENST00000334000.3:c.214A>T	5.37:g.2752749A>T	ENSP00000334267:p.Lys72*					C5orf38_uc011cmg.1_Nonsense_Mutation_p.K72*|C5orf38_uc011cmh.1_Intron|C5orf38_uc011cmi.1_Intron|C5orf38_uc011cmj.1_Intron	p.K72*	NM_178569	NP_848664	Q86SI9	CEI_HUMAN		GBM - Glioblastoma multiforme(108;0.205)	2	331	+			72						Nonsense_Mutation	SNP	ENST00000334000.3	37	c.214A>T	CCDS34131.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.329874	0.60743	.	.	ENSG00000186493	ENST00000397835;ENST00000334000;ENST00000505778;ENST00000515640	.	.	.	1.8	0.62	0.17637	.	.	.	.	.	.	.	.	.	.	.	0.54753	A	0.999985	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.573	0.07923	0.789:0.0:0.211:0.0	.	.	.	.	X	72	.	ENSP00000334267:K72X	K	+	1	0	C5orf38	2805749	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.002000	0.12924	0.175000	0.19841	-0.464000	0.05259	AAA		0.507	C5orf38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365956.2	NM_178569		42	169	0	0	0	0	42	169				
CTNND2	1501	broad.mit.edu	37	5	11159792	11159793	+	Missense_Mutation	DNP	CG	CG	TT			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:11159792_11159793CG>TT	ENST00000304623.8	-	12	2243_2244	c.2054_2055CG>AA	c.(2053-2055)gCG>gAA	p.A685E	CTNND2_ENST00000458100.2_Missense_Mutation_p.A252E|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.A348E|CTNND2_ENST00000511377.1_Missense_Mutation_p.A594E|CTNND2_ENST00000359640.2_Missense_Mutation_p.A685E	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	685					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A685A(1)|p.A685V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGATAATCACCGCGTTGGTCAG	0.52																																						uc003jfa.1		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)	p.A685V(1)	lung(1)|pancreas(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(2053-2055)GCG>GAA		catenin (cadherin-associated protein), delta 2																																				SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11159792_11159793CG>TT	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2054_2055delinsTT	5.37:g.11159792_11159793delinsTT	ENSP00000307134:p.Ala685Glu					CTNND2_uc010itt.2_Missense_Mutation_p.A594E|CTNND2_uc011cmy.1_Missense_Mutation_p.A348E|CTNND2_uc011cmz.1_Missense_Mutation_p.A252E|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.A252E	p.A685E	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			12	2199_2200	-			685			ARM 5.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	DNP	ENST00000304623.8	37	c.2054_2055CG>AA	CCDS3881.1																																																																																				0.520	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		21	169	0	0	0	0	21	169				
CTNND2	1501	broad.mit.edu	37	5	11236908	11236908	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:11236908C>A	ENST00000304623.8	-	10	1845	c.1656G>T	c.(1654-1656)ctG>ctT	p.L552L	CTNND2_ENST00000458100.2_Silent_p.L119L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.L215L|CTNND2_ENST00000511377.1_Silent_p.L461L|CTNND2_ENST00000359640.2_Silent_p.L552L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	552					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCACTTCCGGCAGTTCCGGGT	0.473																																						uc003jfa.1		NA																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1654-1656)CTG>CTT		catenin (cadherin-associated protein), delta 2							99.0	98.0	99.0					5																	11236908		2203	4300	6503	SO:0001819	synonymous_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11236908C>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1656G>T	5.37:g.11236908C>A						CTNND2_uc010itt.2_Silent_p.L461L|CTNND2_uc011cmy.1_Silent_p.L215L|CTNND2_uc011cmz.1_Silent_p.L119L|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.L119L	p.L552L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			10	1801	-			552			ARM 2.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.1656G>T	CCDS3881.1																																																																																				0.473	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		42	123	1	0	2.66e-13	4.59e-13	42	123				
DNAH5	1767	broad.mit.edu	37	5	13807803	13807803	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:13807803G>T	ENST00000265104.4	-	47	7888	c.7784C>A	c.(7783-7785)gCc>gAc	p.A2595D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2595	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TACTGTTTTGGCTGTTCCTTG	0.358									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(7783-7785)GCC>GAC		dynein, axonemal, heavy chain 5							111.0	105.0	107.0					5																	13807803		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13807803G>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.7784C>A	5.37:g.13807803G>T	ENSP00000265104:p.Ala2595Asp						p.A2595D	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			47	7826	-	Lung NSC(4;0.00476)		2595			AAA 3 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.7784C>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255107	0.95336	.	.	ENSG00000039139	ENST00000265104	T	0.39997	1.05	5.87	5.87	0.94306	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.79094	0.4388	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85887	0.1426	10	0.87932	D	0	.	20.2245	0.98337	0.0:0.0:1.0:0.0	.	2595	Q8TE73	DYH5_HUMAN	D	2595	ENSP00000265104:A2595D	ENSP00000265104:A2595D	A	-	2	0	DNAH5	13860803	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	8.019000	0.88732	2.770000	0.95276	0.650000	0.86243	GCC		0.358	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		7	18	1	0	5.18e-06	7.72e-06	7	18				
DNAH5	1767	broad.mit.edu	37	5	13839501	13839501	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:13839501C>A	ENST00000265104.4	-	35	5950	c.5846G>T	c.(5845-5847)tGc>tTc	p.C1949F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1949	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTGTCAGTGCAGCCTAAAAA	0.423									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(5845-5847)TGC>TTC		dynein, axonemal, heavy chain 5							127.0	129.0	128.0					5																	13839501		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13839501C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5846G>T	5.37:g.13839501C>A	ENSP00000265104:p.Cys1949Phe						p.C1949F	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			35	5888	-	Lung NSC(4;0.00476)		1949			AAA 1 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.5846G>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385606	0.82792	.	.	ENSG00000039139	ENST00000265104	T	0.09163	3.01	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.37404	0.1002	M	0.83223	2.63	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.30880	-0.9963	10	0.59425	D	0.04	.	17.1741	0.86837	0.0:1.0:0.0:0.0	.	1949	Q8TE73	DYH5_HUMAN	F	1949	ENSP00000265104:C1949F	ENSP00000265104:C1949F	C	-	2	0	DNAH5	13892501	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	2.304000	0.77564	0.655000	0.94253	TGC		0.423	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		27	140	1	0	7.26e-15	1.28e-14	27	140				
FBXL7	23194	broad.mit.edu	37	5	15937116	15937116	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:15937116C>A	ENST00000504595.1	+	4	1778	c.1297C>A	c.(1297-1299)Ctc>Atc	p.L433I	MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000510662.1_Missense_Mutation_p.L386I|FBXL7_ENST00000329673.7_Missense_Mutation_p.L421I	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	433					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CCTCAAGCGGCTCAGCCTCAA	0.587																																						uc003jfn.1		NA																	0				ovary(2)|lung(1)	3						c.(1297-1299)CTC>ATC		F-box and leucine-rich repeat protein 7							69.0	73.0	71.0					5																	15937116		2068	4215	6283	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15937116C>A	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.1297C>A	5.37:g.15937116C>A	ENSP00000423630:p.Leu433Ile						p.L433I	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			4	1778	+			433			LRR 10.		B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.1297C>A	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579531	0.65878	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.75477	-0.94;-0.94;-0.94	5.37	4.49	0.54785	.	0.061511	0.64402	D	0.000003	T	0.72366	0.3451	M	0.77103	2.36	0.53688	D	0.999972	P	0.44281	0.831	B	0.36666	0.23	T	0.77319	-0.2632	10	0.46703	T	0.11	.	14.4466	0.67356	0.0:0.9276:0.0:0.0724	.	433	Q9UJT9	FBXL7_HUMAN	I	433;386;421	ENSP00000423630:L433I;ENSP00000425184:L386I;ENSP00000329632:L421I	ENSP00000329632:L421I	L	+	1	0	FBXL7	15990116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.028000	0.57246	2.525000	0.85131	0.655000	0.94253	CTC		0.587	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		5	81	1	0	3.6e-05	5.22e-05	5	81				
PRDM9	56979	broad.mit.edu	37	5	23522987	23522987	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:23522987C>A	ENST00000296682.3	+	8	1057	c.875C>A	c.(874-876)tCc>tAc	p.S292Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	292	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AATGGATACTCCTGGCTGGTA	0.502										HNSCC(3;0.000094)																												uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(874-876)TCC>TAC		PR domain containing 9							72.0	75.0	74.0					5																	23522987		2203	4300	6503	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522987C>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.875C>A	5.37:g.23522987C>A	ENSP00000296682:p.Ser292Tyr	HNSCC(3;0.000094)					p.S292Y	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			8	1057	+			292			SET.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.875C>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235932	0.39498	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.64618	-0.11	4.14	3.25	0.37280	SET domain (2);	0.000000	0.35805	N	0.002978	T	0.66963	0.2843	M	0.63843	1.955	0.43234	D	0.995133	D	0.61697	0.99	P	0.54664	0.758	T	0.68066	-0.5507	10	0.87932	D	0	-4.0145	8.1992	0.31415	0.0:0.8816:0.0:0.1184	.	292	Q9NQV7	PRDM9_HUMAN	Y	292;86	ENSP00000296682:S292Y	ENSP00000253473:S86Y	S	+	2	0	PRDM9	23558744	1.000000	0.71417	0.996000	0.52242	0.162000	0.22319	3.547000	0.53663	0.841000	0.35020	0.597000	0.82753	TCC		0.502	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		17	141	1	0	0.000132079	0.000188476	17	141				
ADAMTS12	81792	broad.mit.edu	37	5	33684161	33684161	+	Splice_Site	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:33684161C>A	ENST00000504830.1	-	4	970		c.e4-1		ADAMTS12_ENST00000504582.1_Splice_Site|ADAMTS12_ENST00000352040.3_Splice_Site	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12						cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTAACACTGTCTAAACAGTAA	0.413										HNSCC(64;0.19)																												uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.e4-1		ADAM metallopeptidase with thrombospondin type 1							56.0	50.0	52.0					5																	33684161		2203	4300	6503	SO:0001630	splice_region_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33684161C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.635-1G>T	5.37:g.33684161C>A		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Splice_Site_p.D212_splice	p.D212_splice	NM_030955	NP_112217	P58397	ATS12_HUMAN			4	798	-								A2RRN9|A5D6V6|Q6UWL3	Splice_Site	SNP	ENST00000504830.1	37	c.635_splice	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572849	0.45798	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8203	0.96591	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS12	33719918	1.000000	0.71417	0.998000	0.56505	0.283000	0.27025	6.446000	0.73460	2.758000	0.94735	0.643000	0.83706	.		0.413	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	Intron	7	37	1	0	2.74e-10	4.53e-10	7	37				
SPEF2	79925	broad.mit.edu	37	5	35641597	35641597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:35641597C>T	ENST00000356031.3	+	3	380	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	SPEF2_ENST00000282469.6_Nonsense_Mutation_p.Q76*|SPEF2_ENST00000440995.2_Nonsense_Mutation_p.Q76*|SPEF2_ENST00000509059.1_Nonsense_Mutation_p.Q76*	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	76	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTGGGTGTGCAGTTTGATCA	0.388																																						uc003jjo.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(226-228)CAG>TAG		KPL2 protein isoform 1							92.0	92.0	92.0					5																	35641597		2203	4300	6503	SO:0001587	stop_gained	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35641597C>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.226C>T	5.37:g.35641597C>T	ENSP00000348314:p.Gln76*					SPEF2_uc003jjn.1_Nonsense_Mutation_p.Q76*|SPEF2_uc003jjq.3_Nonsense_Mutation_p.Q76*	p.Q76*	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		3	337	+	all_lung(31;7.56e-05)		76			CH.		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Nonsense_Mutation	SNP	ENST00000356031.3	37	c.226C>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.767674	0.90020	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000510777;ENST00000440995	.	.	.	5.93	5.93	0.95920	.	0.154340	0.46145	D	0.000320	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	.	.	.	X	76	.	ENSP00000282469:Q76X	Q	+	1	0	SPEF2	35677354	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.736000	0.55052	2.814000	0.96858	0.655000	0.94253	CAG		0.388	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		10	94	0	0	0	0	10	94				
RANBP3L	202151	broad.mit.edu	37	5	36253851	36253851	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:36253851G>T	ENST00000296604.3	-	12	1550	c.1065C>A	c.(1063-1065)agC>agA	p.S355R	RANBP3L_ENST00000502994.1_Missense_Mutation_p.S380R	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	355	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CCCAGAGTTTGCTGTTGAGGA	0.388																																						uc003jkh.2		NA																	0				ovary(1)	1						c.(1063-1065)AGC>AGA		RAN binding protein 3-like isoform 2							172.0	156.0	161.0					5																	36253851		2203	4299	6502	SO:0001583	missense	202151				intracellular transport			g.chr5:36253851G>T	BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.1065C>A	5.37:g.36253851G>T	ENSP00000296604:p.Ser355Arg					RANBP3L_uc011cow.1_Missense_Mutation_p.S380R	p.S355R	NM_145000	NP_659437	Q86VV4	RNB3L_HUMAN	Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)		12	1558	-	all_lung(31;4.52e-05)		355			RanBD1.		B7Z866|E9PGP9|Q96LK2	Missense_Mutation	SNP	ENST00000296604.3	37	c.1065C>A	CCDS3918.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546881	0.65198	.	.	ENSG00000164188	ENST00000296604;ENST00000502994	T;T	0.42131	0.98;0.98	5.18	3.38	0.38709	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.073545	0.64402	D	0.000018	T	0.59918	0.2229	M	0.75777	2.31	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.73380	0.98;0.977	T	0.60762	-0.7199	10	0.87932	D	0	-14.4384	8.8841	0.35392	0.24:0.0:0.76:0.0	.	380;355	E9PGP9;Q86VV4	.;RNB3L_HUMAN	R	355;380	ENSP00000296604:S355R;ENSP00000421853:S380R	ENSP00000296604:S355R	S	-	3	2	RANBP3L	36289608	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	0.897000	0.28390	0.683000	0.31428	0.557000	0.71058	AGC		0.388	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	NM_145000		14	120	1	0	8.6e-14	1.5e-13	14	120				
MRPS30	10884	broad.mit.edu	37	5	44809461	44809461	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:44809461C>T	ENST00000507110.1	+	1	435	c.397C>T	c.(397-399)Cct>Tct	p.P133S	RP11-53O19.1_ENST00000505302.1_RNA|RP11-53O19.1_ENST00000508945.1_RNA|RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000503452.1_RNA|RP11-53O19.1_ENST00000514597.1_RNA|RP11-53O19.1_ENST00000505637.1_RNA|RP11-53O19.1_ENST00000508123.1_RNA|RP11-53O19.1_ENST00000503179.1_RNA	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	133					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					cgaacccgaacctgaaccTGC	0.697																																						uc003joh.2		NA																	0					0						c.(397-399)CCT>TCT		mitochondrial ribosomal protein S30							13.0	15.0	14.0					5																	44809461		2198	4294	6492	SO:0001583	missense	10884				apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr5:44809461C>T	AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"""Mitochondrial ribosomal proteins / small subunits"""	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.397C>T	5.37:g.44809461C>T	ENSP00000424328:p.Pro133Ser					MRPS30_uc003joi.1_5'Flank	p.P133S	NM_016640	NP_057724	Q9NP92	RT30_HUMAN			1	435	+	Lung NSC(6;8.08e-07)		133					Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Missense_Mutation	SNP	ENST00000507110.1	37	c.397C>T	CCDS3951.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798065	0.31777	.	.	ENSG00000112996	ENST00000507110	T	0.14640	2.49	4.93	3.08	0.35506	.	0.511187	0.20918	N	0.083328	T	0.12347	0.0300	L	0.54323	1.7	0.09310	N	1	B	0.26935	0.164	B	0.24848	0.056	T	0.30937	-0.9961	10	0.09338	T	0.73	-15.2048	11.3846	0.49778	0.1321:0.699:0.169:0.0	.	133	Q9NP92	RT30_HUMAN	S	133	ENSP00000424328:P133S	ENSP00000424328:P133S	P	+	1	0	MRPS30	44845218	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	0.033000	0.13754	0.689000	0.31550	0.655000	0.94253	CCT		0.697	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		4	24	0	0	0	0	4	24				
MRPS30	10884	broad.mit.edu	37	5	44815101	44815101	+	Nonsense_Mutation	SNP	C	C	T	rs549231581		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:44815101C>T	ENST00000507110.1	+	5	1155	c.1117C>T	c.(1117-1119)Cag>Tag	p.Q373*		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	373					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TTTCTGCTACCAGCTAAATAC	0.388																																						uc003joh.2		NA																	0					0						c.(1117-1119)CAG>TAG		mitochondrial ribosomal protein S30							130.0	132.0	132.0					5																	44815101		2203	4300	6503	SO:0001587	stop_gained	10884				apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr5:44815101C>T	AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"""Mitochondrial ribosomal proteins / small subunits"""	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.1117C>T	5.37:g.44815101C>T	ENSP00000424328:p.Gln373*						p.Q373*	NM_016640	NP_057724	Q9NP92	RT30_HUMAN			5	1155	+	Lung NSC(6;8.08e-07)		373					Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Nonsense_Mutation	SNP	ENST00000507110.1	37	c.1117C>T	CCDS3951.1	.	.	.	.	.	.	.	.	.	.	C	37	6.310439	0.97462	.	.	ENSG00000112996	ENST00000507110	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.4539	20.1823	0.98208	0.0:1.0:0.0:0.0	.	.	.	.	X	373	.	ENSP00000424328:Q373X	Q	+	1	0	MRPS30	44850858	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.648000	0.83479	2.771000	0.95319	0.650000	0.86243	CAG		0.388	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		27	153	0	0	0	0	27	153				
MAP3K1	4214	broad.mit.edu	37	5	56168720	56168720	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:56168720A>T	ENST00000399503.3	+	9	1574	c.1574A>T	c.(1573-1575)cAg>cTg	p.Q525L		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	525					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACCGTACAGCAGCAGCCTTTG	0.433																																						uc003jqw.3		NA																	0				ovary(1)|skin(1)	2						c.(1573-1575)CAG>CTG		mitogen-activated protein kinase kinase kinase							78.0	75.0	76.0					5																	56168720		1877	4102	5979	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56168720A>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1574A>T	5.37:g.56168720A>T	ENSP00000382423:p.Gln525Leu						p.Q525L	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	9	2075	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	525						Missense_Mutation	SNP	ENST00000399503.3	37	c.1574A>T	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	A	12.89	2.074329	0.36566	.	.	ENSG00000095015	ENST00000399503	T	0.66995	-0.24	5.76	5.76	0.90799	.	0.152620	0.45361	D	0.000366	T	0.57873	0.2083	L	0.44542	1.39	0.54753	D	0.999988	P	0.48764	0.915	B	0.40165	0.321	T	0.56751	-0.7927	10	0.17369	T	0.5	.	16.0723	0.80943	1.0:0.0:0.0:0.0	.	525	Q13233	M3K1_HUMAN	L	525	ENSP00000382423:Q525L	ENSP00000382423:Q525L	Q	+	2	0	MAP3K1	56204477	1.000000	0.71417	0.957000	0.39632	0.540000	0.34992	7.360000	0.79487	2.199000	0.70637	0.528000	0.53228	CAG		0.433	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		20	17	0	0	0	0	20	17				
ERBB2IP	55914	broad.mit.edu	37	5	65349325	65349325	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:65349325G>C	ENST00000284037.5	+	21	2568	c.2179G>C	c.(2179-2181)Gat>Cat	p.D727H	ERBB2IP_ENST00000380935.1_Missense_Mutation_p.D727H|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.D727H|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.D727H|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.D727H|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.D727H|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.D727H|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.D727H|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.D723H	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	727					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TGATAAAAAAGATTTTAACTT	0.308																																						uc003juk.1		NA																	0				ovary(3)|lung(2)|central_nervous_system(2)	7						c.(2179-2181)GAT>CAT		ERBB2 interacting protein isoform 2							60.0	68.0	65.0					5																	65349325		2202	4292	6494	SO:0001583	missense	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65349325G>C		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.2179G>C	5.37:g.65349325G>C	ENSP00000284037:p.Asp727His					ERBB2IP_uc003jui.1_Missense_Mutation_p.D727H|ERBB2IP_uc003juj.1_Missense_Mutation_p.D727H|ERBB2IP_uc011cqx.1_Missense_Mutation_p.D727H|ERBB2IP_uc011cqy.1_Missense_Mutation_p.D727H|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Missense_Mutation_p.D723H|ERBB2IP_uc003jul.1_Missense_Mutation_p.D723H	p.D727H	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	21	2487	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	727					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.2179G>C	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205083	0.39003	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.37915	1.36;1.36;1.36;1.55;1.17;1.42;1.35;1.39;1.17	4.61	3.72	0.42706	.	0.436642	0.25099	N	0.033155	T	0.40171	0.1106	N	0.22421	0.69	0.31893	N	0.616913	D;D;D;D;D;D;D	0.89917	0.963;0.964;0.964;0.996;1.0;0.989;0.994	P;P;P;P;D;P;P	0.83275	0.735;0.547;0.547;0.711;0.996;0.804;0.8	T	0.23368	-1.0190	10	0.15952	T	0.53	.	11.2484	0.49010	0.0981:0.0:0.9019:0.0	.	727;727;727;723;727;727;727	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	H	727;727;727;727;727;727;723;727;727	ENSP00000284037:D727H;ENSP00000370330:D727H;ENSP00000370326:D727H;ENSP00000370323:D727H;ENSP00000370322:D727H;ENSP00000370325:D727H;ENSP00000422766:D723H;ENSP00000426632:D727H;ENSP00000422015:D727H	ENSP00000284037:D727H	D	+	1	0	ERBB2IP	65385081	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.941000	0.40233	2.274000	0.75844	0.467000	0.42956	GAT		0.308	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		22	67	0	0	0	0	22	67				
BDP1	55814	broad.mit.edu	37	5	70835391	70835391	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:70835391T>C	ENST00000358731.4	+	28	6200	c.5937T>C	c.(5935-5937)aaT>aaC	p.N1979N	BDP1_ENST00000380675.2_Silent_p.N116N	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1979					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAGGTACCAATGATGGAAGCA	0.348																																						uc003kbp.1		NA																	0				skin(2)	2						c.(5935-5937)AAT>AAC		transcription factor-like nuclear regulator							79.0	72.0	74.0					5																	70835391		1842	4086	5928	SO:0001819	synonymous_variant	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70835391T>C	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.5937T>C	5.37:g.70835391T>C						BDP1_uc003kbo.2_Silent_p.N1979N|BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_Intron	p.N1979N	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	28	6200	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1979					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Silent	SNP	ENST00000358731.4	37	c.5937T>C	CCDS43328.1																																																																																				0.348	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		10	23	0	0	0	0	10	23				
GPR98	84059	broad.mit.edu	37	5	90015959	90015959	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:90015959G>C	ENST00000405460.2	+	44	9638	c.9542G>C	c.(9541-9543)gGg>gCg	p.G3181A		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3181					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTAGACTAGGGGTGCATGTT	0.413																																						uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(9541-9543)GGG>GCG		G protein-coupled receptor 98 precursor							106.0	102.0	103.0					5																	90015959		1820	4066	5886	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90015959G>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.9542G>C	5.37:g.90015959G>C	ENSP00000384582:p.Gly3181Ala					GPR98_uc003kjt.2_Missense_Mutation_p.G887A|GPR98_uc003kjv.2_Missense_Mutation_p.G781A	p.G3181A	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	44	9638	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3181			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.9542G>C	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.079832|4.079832	0.76528|0.76528	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|T	0.32272|0.33654	1.46|1.4	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.046312|0.046312	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.60183|0.60183	0.2249|0.2249	M|M	0.75884|0.75884	2.315|2.315	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.91635|.	0.999;0.943|.	T|T	0.57394|0.57394	-0.7819|-0.7819	10|8	0.72032|0.49607	D|T	0.01|0.09	.|.	20.3668|20.3668	0.98882|0.98882	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3181;3181|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	A|R	3181|747	ENSP00000384582:G3181A|ENSP00000422153:G747R	ENSP00000296619:G3181A|ENSP00000422153:G747R	G|G	+|+	2|1	0|0	GPR98|GPR98	90051715|90051715	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.775000|0.775000	0.43874|0.43874	6.926000|6.926000	0.75835|0.75835	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.413	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		19	51	0	0	0	0	19	51				
SLCO6A1	133482	broad.mit.edu	37	5	101709176	101709176	+	Silent	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:101709176A>T	ENST00000506729.1	-	13	2211	c.2040T>A	c.(2038-2040)acT>acA	p.T680T	SLCO6A1_ENST00000379810.1_Silent_p.T427T|SLCO6A1_ENST00000513675.1_Silent_p.T427T|SLCO6A1_ENST00000379807.3_Silent_p.T680T|SLCO6A1_ENST00000389019.3_Silent_p.T618T			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	680						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGAAGATGATAGTGCATAGTT	0.303																																						uc003knn.2		NA																	0				ovary(3)|skin(3)|central_nervous_system(1)	7						c.(2038-2040)ACT>ACA		solute carrier organic anion transporter family,							116.0	116.0	116.0					5																	101709176		2203	4297	6500	SO:0001819	synonymous_variant	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101709176A>T	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.2040T>A	5.37:g.101709176A>T						SLCO6A1_uc003kno.2_Silent_p.T427T|SLCO6A1_uc003knp.2_Silent_p.T680T|SLCO6A1_uc003knq.2_Silent_p.T618T	p.T680T	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	13	2212	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	680			Helical; Name=12; (Potential).		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	ENST00000506729.1	37	c.2040T>A	CCDS34206.1																																																																																				0.303	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		10	42	0	0	0	0	10	42				
PPIP5K2	23262	broad.mit.edu	37	5	102493935	102493935	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:102493935G>T	ENST00000358359.3	+	15	2042	c.1533G>T	c.(1531-1533)tgG>tgT	p.W511C	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.W511C|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.W511C	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	511					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTCTAAAATGGGGAGGTGAAT	0.388																																						uc003kod.3		NA																	0				ovary(1)|skin(1)	2						c.(1531-1533)TGG>TGT		Histidine acid phosphatase domain containing 1							72.0	76.0	75.0					5																	102493935		2203	4300	6503	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102493935G>T	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.1533G>T	5.37:g.102493935G>T	ENSP00000351126:p.Trp511Cys					PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.W511C	p.W511C	NM_015216	NP_056031	O43314	VIP2_HUMAN			15	2052	+			511					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.1533G>T		.	.	.	.	.	.	.	.	.	.	G	23.6	4.436378	0.83885	.	.	ENSG00000145725	ENST00000321521;ENST00000507921;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	T	0.71660	0.3366	M	0.93283	3.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	T	0.79638	-0.1720	10	0.87932	D	0	.	19.4899	0.95046	0.0:0.0:1.0:0.0	.	511;511	O43314-2;O43314	.;VIP2_HUMAN	C	511;433;511;511;511	ENSP00000313070:W511C;ENSP00000422525:W433C;ENSP00000351126:W511C;ENSP00000416016:W511C	ENSP00000313070:W511C	W	+	3	0	PPIP5K2	102521834	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.406000	0.97321	2.656000	0.90262	0.643000	0.83706	TGG		0.388	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		8	11	1	0	5.18e-06	7.72e-06	8	11				
MEGF10	84466	broad.mit.edu	37	5	126738373	126738373	+	Splice_Site	SNP	C	C	T	rs371078929		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:126738373C>T	ENST00000274473.6	+	9	1183	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	MEGF10_ENST00000418761.2_Splice_Site_p.R306W|MEGF10_ENST00000508365.1_Splice_Site_p.R306W|MEGF10_ENST00000503335.2_Splice_Site_p.R306W	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	306	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CACAGGGGAACGGTAAGGGAT	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		19484	0.001		0.0	False		,,,				2504	0.0					uc003kuh.3		NA																	0				ovary(4)	4						c.(916-918)CGG>TGG		multiple EGF-like-domains 10 precursor		C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	183.0	156.0	165.0		916	2.8	1.0	5		165	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	MEGF10	NM_032446.2	101	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging	306/1141	126738373	3,13003	2203	4300	6503	SO:0001630	splice_region_variant	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126738373C>T	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.917+1C>T	5.37:g.126738373C>T						MEGF10_uc010jdc.1_Missense_Mutation_p.R306W|MEGF10_uc010jdd.1_Missense_Mutation_p.R306W|MEGF10_uc003kui.3_Missense_Mutation_p.R306W	p.R306W	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	9	1278	+		Prostate(80;0.165)	306			Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 5.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.916C>T	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.636187	0.67130	4.54E-4	1.16E-4	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.75	2.81	0.32909	EGF, extracellular (1);EGF-like, laminin (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000003	T	0.64371	0.2592	M	0.93241	3.395	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.975;0.997	T	0.74940	-0.3493	10	0.59425	D	0.04	-17.9706	14.8691	0.70441	0.3739:0.6261:0.0:0.0	.	306;306	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	W	306	ENSP00000423354:R306W;ENSP00000423195:R306W;ENSP00000416284:R306W;ENSP00000274473:R306W	ENSP00000274473:R306W	R	+	1	2	MEGF10	126766272	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	0.707000	0.25704	0.721000	0.32231	0.650000	0.86243	CGG		0.478	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446	Missense_Mutation	33	26	0	0	0	0	33	26				
SEC24A	10802	broad.mit.edu	37	5	134029560	134029560	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:134029560C>A	ENST00000398844.2	+	13	2211	c.1923C>A	c.(1921-1923)ctC>ctA	p.L641L		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	641					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAACACAACTCCCAACTCTTG	0.498																																						uc003kzs.2		NA																	0					0						c.(1921-1923)CTC>CTA		SEC24 related gene family, member A							87.0	86.0	86.0					5																	134029560		1913	4136	6049	SO:0001819	synonymous_variant	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134029560C>A	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.1923C>A	5.37:g.134029560C>A						SEC24A_uc011cxu.1_Silent_p.L405L	p.L641L	NM_021982	NP_068817	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		13	2211	+			641					A8MVW3|Q8WUV2|Q96GP7	Silent	SNP	ENST00000398844.2	37	c.1923C>A	CCDS43363.1																																																																																				0.498	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			15	37	1	0	1.68e-08	2.68e-08	15	37				
IK	3550	broad.mit.edu	37	5	140033549	140033549	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:140033549G>A	ENST00000417647.2	+	6	570	c.431G>A	c.(430-432)aGa>aAa	p.R144K		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	144					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAAGAGAAGACAGTTGATC	0.478																																						uc003lgq.2		NA																	0				large_intestine(1)	1						c.(430-432)AGA>AAA		RED protein							101.0	94.0	96.0					5																	140033549		1910	4132	6042	SO:0001583	missense	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140033549G>A	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.431G>A	5.37:g.140033549G>A	ENSP00000396301:p.Arg144Lys					IK_uc011czk.1_Missense_Mutation_p.R144K	p.R144K	NM_006083	NP_006074	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	541	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	144					Q6IPD8	Missense_Mutation	SNP	ENST00000417647.2	37	c.431G>A	CCDS47280.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952695	0.73787	.	.	ENSG00000113141	ENST00000417647;ENST00000508301;ENST00000261812;ENST00000502899	.	.	.	5.95	5.95	0.96441	RED-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	L	0.39326	1.205	0.80722	D	1	P;P	0.49185	0.56;0.92	B;D	0.66716	0.336;0.946	T	0.65553	-0.6140	9	0.27082	T	0.32	.	19.9882	0.97356	0.0:0.0:1.0:0.0	.	144;144	Q9UK43;Q13123	.;RED_HUMAN	K	144	.	ENSP00000261812:R144K	R	+	2	0	IK	140013733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.609000	0.98334	2.824000	0.97209	0.655000	0.94253	AGA		0.478	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083		14	9	0	0	0	0	14	9				
PCDHA3	56145	broad.mit.edu	37	5	140180929	140180929	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:140180929G>T	ENST00000522353.2	+	1	147	c.147G>T	c.(145-147)gcG>gcT	p.A49A	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.A49A|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	49	Cadherin 1. {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(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCATCGCGCAGGACCTGG	0.647																																						uc003lhf.2		NA																	0				ovary(6)|skin(2)	8						c.(145-147)GCG>GCT		protocadherin alpha 3 isoform 1 precursor							51.0	62.0	58.0					5																	140180929		2203	4299	6502	SO:0001819	synonymous_variant	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140180929G>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.147G>T	5.37:g.140180929G>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.A49A	p.A49A	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	147	+			49			Cadherin 1.|Extracellular (Potential).		O75286	Silent	SNP	ENST00000522353.2	37	c.147G>T	CCDS54915.1																																																																																				0.647	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		35	86	1	0	2.42e-17	4.35e-17	35	86				
PCDHB2	56133	broad.mit.edu	37	5	140475671	140475671	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:140475671C>A	ENST00000194155.4	+	1	1445	c.1297C>A	c.(1297-1299)Ctg>Atg	p.L433M		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	433	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACACCCAGGCTGAAAACCGA	0.557																																						uc003lil.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(1297-1299)CTG>ATG		protocadherin beta 2 precursor							139.0	128.0	132.0					5																	140475671		2203	4300	6503	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475671C>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1297C>A	5.37:g.140475671C>A	ENSP00000194155:p.Leu433Met					PCDHB2_uc003lim.1_Missense_Mutation_p.L94M	p.L433M	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1435	+			433			Extracellular (Potential).|Cadherin 4.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1297C>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.215281	0.39102	.	.	ENSG00000112852	ENST00000194155	T	0.04119	3.7	5.11	4.14	0.48551	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.30008	0.0751	H	0.94542	3.55	0.39853	D	0.973274	D	0.89917	1.0	D	0.91635	0.999	T	0.46386	-0.9195	9	0.87932	D	0	.	13.2018	0.59772	0.0:0.9156:0.0:0.0844	.	433	Q9Y5E7	PCDB2_HUMAN	M	433	ENSP00000194155:L433M	ENSP00000194155:L433M	L	+	1	2	PCDHB2	140455855	0.137000	0.22531	0.949000	0.38748	0.050000	0.14768	1.297000	0.33400	1.127000	0.42034	0.650000	0.86243	CTG		0.557	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		79	51	1	0	3e-28	5.66e-28	79	51				
PCDHB8	56128	broad.mit.edu	37	5	140558615	140558615	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:140558615G>A	ENST00000239444.2	+	1	1245	c.1000G>A	c.(1000-1002)Gtt>Att	p.V334I	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	334	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V334I(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAATGCACCGTTCTGATTCA	0.433																																						uc011dai.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	skin(4)	4						c.(1000-1002)GTT>ATT		protocadherin beta 8 precursor							194.0	264.0	240.0					5																	140558615		2203	4300	6503	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558615G>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1000G>A	5.37:g.140558615G>A	ENSP00000239444:p.Val334Ile					PCDHB16_uc003liv.2_5'Flank	p.V334I	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1186	+			334			Cadherin 3.|Extracellular (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1000G>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	3.782	-0.045407	0.07452	.	.	ENSG00000120322	ENST00000239444	T	0.59906	0.23	4.25	1.33	0.21861	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.51041	0.1651	L	0.53671	1.685	0.09310	N	1	B	0.20780	0.048	B	0.24006	0.05	T	0.43766	-0.9371	9	0.51188	T	0.08	.	8.9355	0.35697	0.1602:0.1251:0.7148:0.0	.	334	Q9UN66	PCDB8_HUMAN	I	334	ENSP00000239444:V334I	ENSP00000239444:V334I	V	+	1	0	PCDHB8	140538799	0.847000	0.29606	0.001000	0.08648	0.221000	0.24807	1.257000	0.32932	-0.323000	0.08602	-1.128000	0.01989	GTT		0.433	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		38	352	0	0	0	0	38	352				
PCDHB12	56124	broad.mit.edu	37	5	140589218	140589218	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:140589218T>G	ENST00000239450.2	+	1	928	c.739T>G	c.(739-741)Tat>Gat	p.Y247D	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	247	Cadherin 3. {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)			GCAGGCTTTTTATGAGGTGAA	0.502																																						uc003liz.2		NA																	0				skin(2)|ovary(1)	3						c.(739-741)TAT>GAT		protocadherin beta 12 precursor							138.0	145.0	142.0					5																	140589218		2203	4300	6503	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589218T>G	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.739T>G	5.37:g.140589218T>G	ENSP00000239450:p.Tyr247Asp					PCDHB12_uc011dak.1_Intron	p.Y247D	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	928	+			247			Extracellular (Potential).|Cadherin 3.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.739T>G	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.232127	0.39498	.	.	ENSG00000120328	ENST00000239450	T	0.56776	0.44	4.16	4.16	0.48862	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.84106	0.5399	H	0.99740	4.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90468	0.4451	9	0.87932	D	0	.	13.1424	0.59442	0.0:0.0:0.0:1.0	.	247	Q9Y5F1	PCDBC_HUMAN	D	247	ENSP00000239450:Y247D	ENSP00000239450:Y247D	Y	+	1	0	PCDHB12	140569402	1.000000	0.71417	0.327000	0.25402	0.085000	0.17905	4.993000	0.63895	1.648000	0.50643	0.402000	0.26972	TAT		0.502	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		97	56	0	0	0	0	97	56				
PCDHB12	56124	broad.mit.edu	37	5	140590088	140590088	+	Missense_Mutation	SNP	G	G	T	rs532396499		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:140590088G>T	ENST00000239450.2	+	1	1798	c.1609G>T	c.(1609-1611)Ggc>Tgc	p.G537C	PCDHB12_ENST00000541609.1_Missense_Mutation_p.G200C	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	537	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)	p.G537S(1)		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)			CACAGACCACGGCTCCCCGGC	0.677																																						uc003liz.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1609-1611)GGC>TGC		protocadherin beta 12 precursor							53.0	60.0	58.0					5																	140590088		2203	4299	6502	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590088G>T	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.1609G>T	5.37:g.140590088G>T	ENSP00000239450:p.Gly537Cys					PCDHB12_uc011dak.1_Missense_Mutation_p.G200C	p.G537C	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1798	+			537			Extracellular (Potential).|Cadherin 5.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1609G>T	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027250	0.54683	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.01804	4.63;4.63	3.41	3.41	0.39046	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.23054	0.0557	H	0.99712	4.72	0.48236	D	0.999613	D	0.89917	1.0	D	0.97110	1.0	T	0.57341	-0.7828	9	0.87932	D	0	.	14.8279	0.70128	0.0:0.0:1.0:0.0	.	537	Q9Y5F1	PCDBC_HUMAN	C	200;537;157	ENSP00000440199:G200C;ENSP00000239450:G537C	ENSP00000239450:G537C	G	+	1	0	PCDHB12	140570272	1.000000	0.71417	0.029000	0.17559	0.388000	0.30384	7.859000	0.86982	1.631000	0.50456	0.485000	0.47835	GGC		0.677	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		49	29	1	0	5.34e-22	9.84e-22	49	29				
HMHB1	57824	broad.mit.edu	37	5	143200051	143200051	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:143200051T>C	ENST00000289448.2	+	2	151	c.44T>C	c.(43-45)cTg>cCg	p.L15P	CTB-57H20.1_ENST00000503323.1_RNA	NM_021182.1	NP_067005	O97980	HMHB1_HUMAN	histocompatibility (minor) HB-1	15	Loss of recognition by cytotoxic T lymphocyte (CTL).				immune system process (GO:0002376)								Acute lymphoblastic leukemia(2;0.0236)|all_hematologic(2;0.041)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ATAGGTTCTCTGCATGTTTGG	0.393																																						uc003lnj.2		NA																	0					0						c.(43-45)CTG>CCG		minor histocompatibility antigen HB-1							253.0	228.0	236.0					5																	143200051		1859	4105	5964	SO:0001583	missense	57824							g.chr5:143200051T>C	AF103884	CCDS43376.1	5q32	2006-07-20			ENSG00000158497	ENSG00000158497			29677	protein-coding gene	gene with protein product		609961				9892612	Standard	NM_021182		Approved	HB-1	uc003lnj.3	O97980	OTTHUMG00000163173	ENST00000289448.2:c.44T>C	5.37:g.143200051T>C	ENSP00000289448:p.Leu15Pro						p.L15P	NM_021182	NP_067005	O97980	HMHB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		2	151	+		Acute lymphoblastic leukemia(2;0.0236)|all_hematologic(2;0.041)	15	L->A: Complete loss of CTL recognition.		Loss of recognition by cytotoxic T lymphocyte (CTL).		Q9MY25	Missense_Mutation	SNP	ENST00000289448.2	37	c.44T>C	CCDS43376.1	.	.	.	.	.	.	.	.	.	.	T	9.322	1.058212	0.19987	.	.	ENSG00000158497	ENST00000289448	T	0.65178	-0.14	4.56	0.604	0.17547	.	.	.	.	.	T	0.72835	0.3510	.	.	.	0.27610	N	0.948699	D	0.89917	1.0	D	0.76071	0.987	T	0.72581	-0.4250	7	0.87932	D	0	.	5.0066	0.14291	0.0:0.0988:0.3672:0.5339	.	15	O97980	HMHB1_HUMAN	P	15	ENSP00000289448:L15P	ENSP00000289448:L15P	L	+	2	0	HMHB1	143180244	0.001000	0.12720	0.000000	0.03702	0.037000	0.13140	0.307000	0.19296	0.022000	0.15160	0.460000	0.39030	CTG		0.393	HMHB1-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371899.1	NM_021182		34	73	0	0	0	0	34	73				
PLAC8L1	153770	broad.mit.edu	37	5	145477757	145477757	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:145477757C>A	ENST00000311450.4	-	2	275	c.218G>T	c.(217-219)aGc>aTc	p.S73I	RP11-118M9.3_ENST00000514002.1_RNA	NM_001029869.1	NP_001025040.1	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	73										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGACCGGTGCTCCAGCCCCC	0.512																																						uc003lnv.2		NA																	0					0						c.(217-219)AGC>ATC		PLAC8-like 1							56.0	57.0	57.0					5																	145477757		2203	4300	6503	SO:0001583	missense	153770							g.chr5:145477757C>A		CCDS34264.1	5q32	2008-02-05			ENSG00000173261	ENSG00000173261			31746	protein-coding gene	gene with protein product							Standard	XM_005268381		Approved		uc003lnv.3	A1L4L8	OTTHUMG00000163418	ENST00000311450.4:c.218G>T	5.37:g.145477757C>A	ENSP00000309087:p.Ser73Ile					PLAC8L1_uc011dbp.1_RNA	p.S73I	NM_001029869	NP_001025040	A1L4L8	PL8L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	290	-			73						Missense_Mutation	SNP	ENST00000311450.4	37	c.218G>T	CCDS34264.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914153	0.72983	.	.	ENSG00000173261	ENST00000311450	T	0.51574	0.7	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.72145	0.3424	M	0.90369	3.11	0.39777	D	0.972248	D	0.76494	0.999	D	0.70016	0.967	T	0.79011	-0.1977	10	0.72032	D	0.01	-12.8881	13.3215	0.60436	0.0:1.0:0.0:0.0	.	73	A1L4L8	PL8L1_HUMAN	I	73	ENSP00000309087:S73I	ENSP00000309087:S73I	S	-	2	0	PLAC8L1	145457950	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	1.595000	0.36708	2.606000	0.88127	0.455000	0.32223	AGC		0.512	PLAC8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373290.1	XM_087761		26	13	1	0	2.8e-10	4.62e-10	26	13				
SLC36A2	153201	broad.mit.edu	37	5	150722462	150722462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:150722462C>T	ENST00000335244.4	-	4	556	c.427G>A	c.(427-429)Gct>Act	p.A143T	SLC36A2_ENST00000521967.1_Missense_Mutation_p.A143T	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	143					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	CCCCAGTGAGCGTGATTCTGG	0.537																																						uc003lty.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(427-429)GCT>ACT		solute carrier family 36, member 2							168.0	131.0	143.0					5																	150722462		2203	4300	6503	SO:0001583	missense	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150722462C>T	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.427G>A	5.37:g.150722462C>T	ENSP00000334223:p.Ala143Thr					GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_5'UTR|SLC36A2_uc010jhv.2_Missense_Mutation_p.A143T|SLC36A2_uc011dct.1_Missense_Mutation_p.A143T	p.A143T	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	557	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	143			Cytoplasmic (Potential).		Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	ENST00000335244.4	37	c.427G>A	CCDS4315.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760092	0.49468	.	.	ENSG00000186335	ENST00000335244;ENST00000521967	T;T	0.02579	4.24;4.24	4.77	3.88	0.44766	.	0.165666	0.53938	D	0.000043	T	0.14527	0.0351	M	0.91972	3.26	0.58432	D	0.999998	P;P;P	0.52577	0.954;0.782;0.884	P;B;P	0.55713	0.782;0.393;0.473	T	0.01416	-1.1360	10	0.72032	D	0.01	-24.6969	12.0999	0.53776	0.4303:0.5697:0.0:0.0	.	143;143;143	B4DMY0;E5RJJ5;Q495M3	.;.;S36A2_HUMAN	T	143	ENSP00000334223:A143T;ENSP00000430535:A143T	ENSP00000334223:A143T	A	-	1	0	SLC36A2	150702655	0.492000	0.26027	0.822000	0.32727	0.486000	0.33341	0.812000	0.27211	1.323000	0.45263	0.655000	0.94253	GCT		0.537	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			23	26	0	0	0	0	23	26				
ITK	3702	broad.mit.edu	37	5	156671418	156671418	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:156671418T>A	ENST00000422843.3	+	13	1531	c.1379T>A	c.(1378-1380)cTg>cAg	p.L460Q	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	460	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	GAGACCCTGCTGGGCATGTGT	0.572			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	uc003lwo.1		NA		Dom	yes		5	5q31-q32	3702	T	IL2-inducible T-cell kinase			L	SYK		peripheral T-cell lymphoma		0				lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26						c.(1378-1380)CTG>CAG		IL2-inducible T-cell kinase							93.0	91.0	91.0					5																	156671418		2203	4300	6503	SO:0001583	missense	3702				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr5:156671418T>A	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.1379T>A	5.37:g.156671418T>A	ENSP00000398655:p.Leu460Gln						p.L460Q	NM_005546	NP_005537	Q08881	ITK_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		13	1461	+	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	460			Protein kinase.		B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	c.1379T>A	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.685924	0.88639	.	.	ENSG00000113263	ENST00000422843	D	0.85484	-1.99	6.08	6.08	0.98989	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93174	0.7826	M	0.85630	2.765	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	D	0.93995	0.7270	10	0.87932	D	0	.	16.6512	0.85203	0.0:0.0:0.0:1.0	.	460	Q08881	ITK_HUMAN	Q	460	ENSP00000398655:L460Q	ENSP00000398655:L460Q	L	+	2	0	ITK	156603996	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.144000	0.71762	2.333000	0.79357	0.482000	0.46254	CTG		0.572	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			17	25	0	0	0	0	17	25				
FABP6	2172	broad.mit.edu	37	5	159659189	159659189	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:159659189C>A	ENST00000402432.3	+	2	280	c.152C>A	c.(151-153)tCc>tAc	p.S51Y	FABP6_ENST00000393980.4_Missense_Mutation_p.S100Y|FABP6_ENST00000393982.1_Missense_Mutation_p.S100Y	NM_001445.2	NP_001436.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	51					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCACTTGGTCCCAGCACTAC	0.562																																					Colon(29;562 677 12756 16385 20992)	uc003lya.1		NA																	0					0						c.(151-153)TCC>TAC		gastrotropin isoform 2							67.0	50.0	56.0					5																	159659189		2203	4300	6503	SO:0001583	missense	2172				bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity	g.chr5:159659189C>A	U19869	CCDS4349.1, CCDS43393.1	5q23-q35	2013-03-01	2008-08-01		ENSG00000170231	ENSG00000170231		"""Fatty acid binding protein family"""	3561	protein-coding gene	gene with protein product	"""illeal lipid-binding protein"", ""ileal bile acid binding protein"", ""gastrotropin"""	600422				7894165, 7619861	Standard	NM_001130958		Approved	I-15P, ILLBP, I-BAP, ILBP3, I-BABP, ILBP, I-BALB	uc003lxx.1	P51161	OTTHUMG00000130329	ENST00000402432.3:c.152C>A	5.37:g.159659189C>A	ENSP00000385433:p.Ser51Tyr					FABP6_uc003lxx.1_Missense_Mutation_p.S100Y|FABP6_uc003lxz.1_Missense_Mutation_p.S100Y	p.S51Y	NM_001445	NP_001436	P51161	FABP6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	280	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	51					Q07DR7|Q8TBI3|Q9UGI7	Missense_Mutation	SNP	ENST00000402432.3	37	c.152C>A	CCDS4349.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203615	0.58234	.	.	ENSG00000170231	ENST00000393980;ENST00000393982;ENST00000402432	T;T;T	0.20598	2.06;2.06;2.06	4.64	2.68	0.31781	Calycin-like (1);Calycin (1);	0.293028	0.36338	N	0.002653	T	0.36936	0.0985	L	0.56769	1.78	0.38027	D	0.935037	D;D	0.76494	0.995;0.999	D;D	0.73380	0.936;0.98	T	0.31364	-0.9946	10	0.87932	D	0	-24.1554	8.3821	0.32477	0.0:0.7878:0.0:0.2122	.	51;100	P51161;P51161-2	FABP6_HUMAN;.	Y	100;100;51	ENSP00000377549:S100Y;ENSP00000377551:S100Y;ENSP00000385433:S51Y	ENSP00000377549:S100Y	S	+	2	0	FABP6	159591767	0.999000	0.42202	1.000000	0.80357	0.961000	0.63080	2.472000	0.45136	1.165000	0.42670	0.462000	0.41574	TCC		0.562	FABP6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320505.2	NM_001040442		9	8	1	0	0.000442599	0.000620325	9	8				
GABRA1	2554	broad.mit.edu	37	5	161302615	161302615	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:161302615G>T	ENST00000428797.2	+	7	881	c.526G>T	c.(526-528)Gat>Tat	p.D176Y	GABRA1_ENST00000393943.4_Missense_Mutation_p.D176Y|GABRA1_ENST00000437025.2_Missense_Mutation_p.D176Y|GABRA1_ENST00000420560.1_Missense_Mutation_p.D176Y|GABRA1_ENST00000444819.1_Missense_Mutation_p.D176Y|GABRA1_ENST00000023897.6_Missense_Mutation_p.D176Y	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	176					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|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)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	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;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CTTCCCTATGGATGCCCATGC	0.383																																						uc010jiw.2		NA																	0				ovary(2)|pancreas(1)	3						c.(526-528)GAT>TAT		gamma-aminobutyric acid (GABA) A receptor, alpha	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						179.0	177.0	178.0					5																	161302615		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161302615G>T		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.526G>T	5.37:g.161302615G>T	ENSP00000393097:p.Asp176Tyr					GABRA1_uc010jix.2_Missense_Mutation_p.D176Y|GABRA1_uc010jiy.2_Missense_Mutation_p.D176Y|GABRA1_uc003lyx.3_Missense_Mutation_p.D176Y|GABRA1_uc010jiz.2_Missense_Mutation_p.D176Y|GABRA1_uc010jja.2_Missense_Mutation_p.D176Y|GABRA1_uc010jjb.2_Missense_Mutation_p.D176Y	p.D176Y	NM_000806	NP_000797	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	7	994	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	176			Extracellular (Probable).		D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.526G>T	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791163	0.90367	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98;-2.98	5.19	5.19	0.71726	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97923	0.9317	H	0.98426	4.23	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99406	1.0929	10	0.87932	D	0	.	19.094	0.93242	0.0:0.0:1.0:0.0	.	176	P14867	GBRA1_HUMAN	Y	176	ENSP00000023897:D176Y;ENSP00000393097:D176Y;ENSP00000377517:D176Y;ENSP00000415441:D176Y;ENSP00000408041:D176Y;ENSP00000414232:D176Y	ENSP00000023897:D176Y	D	+	1	0	GABRA1	161235193	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.746000	0.98859	2.595000	0.87683	0.650000	0.86243	GAT		0.383	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		17	52	1	0	2.35e-11	3.94e-11	17	52				
GABRP	2568	broad.mit.edu	37	5	170239158	170239158	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:170239158A>G	ENST00000518525.1	+	11	1683	c.1219A>G	c.(1219-1221)Aca>Gca	p.T407A	GABRP_ENST00000519385.1_3'UTR|GABRP_ENST00000265294.4_Missense_Mutation_p.T407A			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	407					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	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(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		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)|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)	TGATTATTTCACAATTCAAAA	0.373																																						uc003mau.2		NA																	0				breast(1)	1						c.(1219-1221)ACA>GCA		gamma-aminobutyric acid (GABA) A receptor, pi							115.0	107.0	109.0					5																	170239158		2203	4300	6503	SO:0001583	missense	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170239158A>G	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.1219A>G	5.37:g.170239158A>G	ENSP00000430100:p.Thr407Ala					GABRP_uc011dev.1_3'UTR	p.T407A	NM_014211	NP_055026	O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		10	1417	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	407			Cytoplasmic (Potential).		A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	37	c.1219A>G	CCDS4375.1	.	.	.	.	.	.	.	.	.	.	A	12.01	1.809933	0.31961	.	.	ENSG00000094755	ENST00000518525;ENST00000265294	T;T	0.81415	-1.49;-1.49	5.74	5.74	0.90152	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.238237	0.44097	D	0.000489	T	0.66426	0.2788	N	0.20986	0.625	0.41262	D	0.986784	B	0.27351	0.176	B	0.22753	0.041	T	0.64183	-0.6467	10	0.06099	T	0.92	.	15.6906	0.77450	1.0:0.0:0.0:0.0	.	407	O00591	GBRP_HUMAN	A	407	ENSP00000430100:T407A;ENSP00000265294:T407A	ENSP00000265294:T407A	T	+	1	0	GABRP	170171736	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.820000	0.69250	2.187000	0.69744	0.533000	0.62120	ACA		0.373	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		13	33	0	0	0	0	13	33				
NSD1	64324	broad.mit.edu	37	5	176675284	176675284	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:176675284G>T	ENST00000439151.2	+	11	4645	c.4600G>T	c.(4600-4602)Gaa>Taa	p.E1534*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.E1265*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.E1265*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.E1431*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1534					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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;0.198)	Kidney(146;0.235)		AATGCAGGGTGAACGCGGTGG	0.498			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3						c.(4600-4602)GAA>TAA		nuclear receptor binding SET domain protein 1							95.0	99.0	97.0					5																	176675284		2203	4300	6503	SO:0001587	stop_gained	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176675284G>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4600G>T	5.37:g.176675284G>T	ENSP00000395929:p.Glu1534*	HNSCC(47;0.14)				NSD1_uc003mft.3_Nonsense_Mutation_p.E1265*|NSD1_uc003mfs.1_Nonsense_Mutation_p.E1431*|NSD1_uc011dfx.1_Nonsense_Mutation_p.E1182*	p.E1534*	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	11	4738	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1534					Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.4600G>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	43	10.449914	0.99407	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.22	5.22	0.72569	.	0.000000	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.7766	0.91913	0.0:0.0:1.0:0.0	.	.	.	.	X	1265;1534;1265;1431	.	ENSP00000343209:E1265X	E	+	1	0	NSD1	176607890	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.144000	0.89623	2.425000	0.82216	0.655000	0.94253	GAA		0.498	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		15	5	1	0	3.27e-08	5.2e-08	15	5				
MAML1	9794	broad.mit.edu	37	5	179192840	179192840	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:179192840G>T	ENST00000292599.3	+	2	1092	c.829G>T	c.(829-831)Gag>Tag	p.E277*	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACTTCGAGGAGAAGAAGGA	0.512																																						uc003mkm.2		NA																	0				lung(4)|ovary(2)	6						c.(829-831)GAG>TAG		mastermind-like 1							75.0	78.0	77.0					5																	179192840		2203	4300	6503	SO:0001587	stop_gained	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179192840G>T	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.829G>T	5.37:g.179192840G>T	ENSP00000292599:p.Glu277*					MAML1_uc003mkn.1_Nonsense_Mutation_p.E277*	p.E277*	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1092	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	277						Nonsense_Mutation	SNP	ENST00000292599.3	37	c.829G>T	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	G	39	7.381263	0.98248	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	.	.	.	4.9	4.9	0.64082	.	0.073711	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.7079	18.0605	0.89375	0.0:0.0:1.0:0.0	.	.	.	.	X	277;314	.	ENSP00000292599:E277X	E	+	1	0	MAML1	179125446	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	9.169000	0.94788	2.251000	0.74343	0.455000	0.32223	GAG		0.512	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		26	69	1	0	7.68e-24	1.43e-23	26	69				
DSP	1832	broad.mit.edu	37	6	7583613	7583613	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:7583613A>G	ENST00000379802.3	+	24	6459	c.6118A>G	c.(6118-6120)Atc>Gtc	p.I2040V	DSP_ENST00000418664.2_Missense_Mutation_p.I1441V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2040	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAGAAATTAATCAGCCCAGA	0.488																																						uc003mxp.1		NA																	0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(6118-6120)ATC>GTC		desmoplakin isoform I							52.0	57.0	55.0					6																	7583613		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7583613A>G	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6118A>G	6.37:g.7583613A>G	ENSP00000369129:p.Ile2040Val					DSP_uc003mxq.1_Missense_Mutation_p.I1441V	p.I2040V	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	6397	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2040			Plectin 1.|Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.6118A>G	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	9.927	1.213865	0.22289	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.71934	-0.61;-0.61	4.98	4.98	0.66077	.	0.102926	0.42682	D	0.000680	T	0.37046	0.0989	L	0.29908	0.895	0.09310	N	1	B;B	0.21905	0.04;0.062	B;B	0.19148	0.022;0.024	T	0.10870	-1.0611	10	0.39692	T	0.17	.	7.5142	0.27592	0.6667:0.2078:0.0:0.1254	.	1488;2040	Q4LE79;P15924	.;DESP_HUMAN	V	2040;1441	ENSP00000369129:I2040V;ENSP00000396591:I1441V	ENSP00000369129:I2040V	I	+	1	0	DSP	7528612	0.665000	0.27466	0.887000	0.34795	0.873000	0.50193	1.465000	0.35299	1.990000	0.58119	0.533000	0.62120	ATC		0.488	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		40	41	0	0	0	0	40	41				
SCGN	10590	broad.mit.edu	37	6	25670229	25670229	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:25670229C>A	ENST00000377961.2	+	6	564	c.396C>A	c.(394-396)aaC>aaA	p.N132K	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	132	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CGCCACAGAACTTCCTCCGAG	0.398																																						uc003nfb.2		NA																	0				ovary(2)|pancreas(1)	3						c.(394-396)AAC>AAA		secretagogin precursor							166.0	174.0	171.0					6																	25670229		2203	4300	6503	SO:0001583	missense	10590					extracellular region|transport vesicle membrane	calcium ion binding	g.chr6:25670229C>A	BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"""EF-hand domain containing"""	16941	protein-coding gene	gene with protein product	"""calbindin-like"""	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.396C>A	6.37:g.25670229C>A	ENSP00000367197:p.Asn132Lys					SCGN_uc010jpz.2_Missense_Mutation_p.T42N	p.N132K	NM_006998	NP_008929	O76038	SEGN_HUMAN			6	599	+			132			EF-hand 3.		A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Missense_Mutation	SNP	ENST00000377961.2	37	c.396C>A	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.555198	0.45487	.	.	ENSG00000079689	ENST00000377961	T	0.70045	-0.45	5.6	3.5	0.40072	EF-hand-like domain (1);	0.186905	0.56097	D	0.000025	T	0.40067	0.1102	L	0.56396	1.775	0.80722	D	1	P	0.48407	0.91	B	0.28916	0.096	T	0.47947	-0.9077	10	0.41790	T	0.15	.	12.4856	0.55871	0.0:0.8345:0.0:0.1655	.	132	O76038	SEGN_HUMAN	K	132	ENSP00000367197:N132K	ENSP00000367197:N132K	N	+	3	2	SCGN	25778208	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	0.773000	0.26661	1.351000	0.45789	0.563000	0.77884	AAC		0.398	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1			42	170	1	0	1.42e-22	2.61e-22	42	170				
HIST1H2BI	8346	broad.mit.edu	37	6	26273408	26273408	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:26273408G>A	ENST00000377733.2	+	1	265	c.205G>A	c.(205-207)Gac>Aac	p.D69N	HIST1H3G_ENST00000305910.3_5'Flank	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	69					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D69N(2)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CTTCGTCAACGACATTTTCGA	0.567																																						uc003nhk.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(205-207)GAC>AAC		histone cluster 1, H2bi							162.0	155.0	158.0					6																	26273408		2203	4300	6503	SO:0001583	missense	8346				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26273408G>A	Z80782	CCDS4603.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000168242	ENSG00000278588		"""Histones / Replication-dependent"""	4756	protein-coding gene	gene with protein product		602807	"""H2B histone family, member K"", ""histone 1, H2bi"""	H2BFK		9119399, 12408966	Standard	NM_003525		Approved	H2B/k	uc003nhk.3	P62807	OTTHUMG00000014448	ENST00000377733.2:c.205G>A	6.37:g.26273408G>A	ENSP00000366962:p.Asp69Asn					HIST1H3G_uc003nhi.2_5'Flank	p.D69N	NM_003525	NP_003516	P62807	H2B1C_HUMAN			1	205	+			69					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000377733.2	37	c.205G>A	CCDS4603.1	.	.	.	.	.	.	.	.	.	.	.	16.12	3.031722	0.54790	.	.	ENSG00000168242	ENST00000377733	T	0.28454	1.61	4.5	4.5	0.54988	.	.	.	.	.	T	0.57504	0.2058	H	0.94582	3.555	0.34166	D	0.669283	.	.	.	.	.	.	T	0.72994	-0.4122	7	0.62326	D	0.03	.	15.8093	0.78543	0.0:0.0:1.0:0.0	.	.	.	.	N	69	ENSP00000366962:D69N	ENSP00000366962:D69N	D	+	1	0	HIST1H2BI	26381387	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	7.642000	0.83385	2.058000	0.61347	0.563000	0.77884	GAC		0.567	HIST1H2BI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040111.1	NM_003525		63	189	0	0	0	0	63	189				
ABT1	29777	broad.mit.edu	37	6	26598238	26598238	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:26598238G>A	ENST00000274849.1	+	2	369	c.338G>A	c.(337-339)cGt>cAt	p.R113H		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	113	RRM.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron differentiation (GO:0021522)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						GTGGAGTTCCGTGACAAGCGC	0.597																																						uc003nii.2		NA																	0				ovary(1)	1						c.(337-339)CGT>CAT		activator of basal transcription 1							61.0	56.0	58.0					6																	26598238		2203	4300	6503	SO:0001583	missense	29777				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity	g.chr6:26598238G>A	AB027258	CCDS4616.1	6p21.31	2008-07-07			ENSG00000146109	ENSG00000146109			17369	protein-coding gene	gene with protein product						10648625	Standard	NM_013375		Approved		uc003nii.3	Q9ULW3	OTTHUMG00000016319	ENST00000274849.1:c.338G>A	6.37:g.26598238G>A	ENSP00000274849:p.Arg113His						p.R113H	NM_013375	NP_037507	Q9ULW3	ABT1_HUMAN			2	369	+			113			RRM.			Missense_Mutation	SNP	ENST00000274849.1	37	c.338G>A	CCDS4616.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.041558	0.93685	.	.	ENSG00000146109	ENST00000274849	T	0.43294	0.95	5.23	5.23	0.72850	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.55337	0.1914	M	0.65975	2.015	0.58432	D	0.999999	D	0.89917	1.0	D	0.72338	0.977	T	0.53760	-0.8393	10	0.46703	T	0.11	-14.2382	16.6701	0.85263	0.0:0.0:1.0:0.0	.	113	Q9ULW3	ABT1_HUMAN	H	113	ENSP00000274849:R113H	ENSP00000274849:R113H	R	+	2	0	ABT1	26706217	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	5.105000	0.64591	2.629000	0.89072	0.563000	0.77884	CGT		0.597	ABT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043698.1			11	44	0	0	0	0	11	44				
ZNF184	7738	broad.mit.edu	37	6	27419371	27419371	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:27419371T>A	ENST00000211936.6	-	6	2251	c.1967A>T	c.(1966-1968)cAt>cTt	p.H656L	ZNF184_ENST00000377419.1_Missense_Mutation_p.H656L	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	656					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTGAGTTAGATGGGAGCTCTG	0.423																																						uc003njj.2		NA																	0				ovary(1)	1						c.(1966-1968)CAT>CTT		zinc finger protein 184							101.0	106.0	104.0					6																	27419371		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27419371T>A	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1967A>T	6.37:g.27419371T>A	ENSP00000211936:p.His656Leu					ZNF184_uc010jqv.2_Missense_Mutation_p.H656L|ZNF184_uc003nji.2_Missense_Mutation_p.H656L	p.H656L	NM_007149	NP_009080	Q99676	ZN184_HUMAN			5	2778	-			656			C2H2-type 16.		B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.1967A>T	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	T	2.861	-0.236239	0.05944	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.07114	3.22;3.22	5.18	3.97	0.46021	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.131914	0.35291	N	0.003301	T	0.02156	0.0067	L	0.35487	1.065	0.09310	N	1	B	0.24317	0.101	B	0.19391	0.025	T	0.42189	-0.9466	10	0.32370	T	0.25	.	9.4275	0.38590	0.0:0.086:0.0:0.914	.	656	Q99676	ZN184_HUMAN	L	656;656;572	ENSP00000211936:H656L;ENSP00000366636:H656L	ENSP00000211936:H656L	H	-	2	0	ZNF184	27527350	0.000000	0.05858	0.991000	0.47740	0.995000	0.86356	-0.239000	0.08965	0.945000	0.37605	0.482000	0.46254	CAT		0.423	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		18	79	0	0	0	0	18	79				
UBD	10537	broad.mit.edu	37	6	29524075	29524075	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:29524075T>C	ENST00000377050.4	-	2	303	c.80A>G	c.(79-81)tAt>tGt	p.Y27C	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	27	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				aggresome assembly (GO:0070842)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein modification by small protein conjugation (GO:0032446)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to organonitrogen compound (GO:0010243)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	proteasome binding (GO:0070628)			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CACGCTGTCATATGGGTTGGC	0.488																																						uc003nmo.2		NA																	0					0						c.(79-81)TAT>TGT		ubiquitin D							99.0	78.0	86.0					6																	29524075		1511	2709	4220	SO:0001583	missense	10537				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding	g.chr6:29524075T>C	Y12653	CCDS4662.1	6p21.3	2008-04-11			ENSG00000213886	ENSG00000213886			18795	protein-coding gene	gene with protein product		606050				9368598, 8662070	Standard	NM_006398		Approved	FAT10	uc003nmo.3	O15205	OTTHUMG00000031289	ENST00000377050.4:c.80A>G	6.37:g.29524075T>C	ENSP00000366249:p.Tyr27Cys					GABBR1_uc003nmp.3_3'UTR	p.Y27C	NM_006398	NP_006389	O15205	UBD_HUMAN			2	304	-			27			Ubiquitin 1.		B0UZT6|Q5STL2|Q5SUK2|Q96EC7	Missense_Mutation	SNP	ENST00000377050.4	37	c.80A>G	CCDS4662.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.942138	0.34283	.	.	ENSG00000213886	ENST00000377050	T	0.11277	2.79	5.38	-1.73	0.08081	Ubiquitin supergroup (1);Ubiquitin (2);	1.572630	0.05185	U	0.502123	T	0.01592	0.0051	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48139	-0.9061	10	0.72032	D	0.01	0.5424	5.2864	0.15704	0.0:0.3356:0.1486:0.5158	.	27	O15205	UBD_HUMAN	C	27	ENSP00000366249:Y27C	ENSP00000366249:Y27C	Y	-	2	0	UBD	29632054	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.546000	0.06062	-0.557000	0.06126	0.496000	0.49642	TAT		0.488	UBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076628.3			20	50	0	0	0	0	20	50				
MSH5	4439	broad.mit.edu	37	6	31726375	31726375	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:31726375C>A	ENST00000375755.3	+	14	1480	c.1194C>A	c.(1192-1194)aaC>aaA	p.N398K	RNU6-850P_ENST00000516934.1_RNA|MSH5_ENST00000534153.4_Missense_Mutation_p.N415K|MSH5_ENST00000431848.2_Missense_Mutation_p.N97K|MSH5_ENST00000375740.3_Missense_Mutation_p.N415K|MSH5_ENST00000395853.1_Missense_Mutation_p.N72K|MSH5_ENST00000375742.3_Missense_Mutation_p.N415K|MSH5_ENST00000375703.3_Missense_Mutation_p.N398K|MSH5_ENST00000375750.3_Missense_Mutation_p.N398K|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.N415K	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	398					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						TCCTCCCCAACATAGATCCTG	0.532								Direct reversal of damage;Mismatch excision repair (MMR)																														uc003nwv.1		NA																	0				ovary(2)|breast(1)	3						c.(1192-1194)AAC>AAA	Direct_reversal_of_damage|MMR	mutS homolog 5 isoform c							98.0	81.0	87.0					6																	31726375		1511	2709	4220	SO:0001583	missense	4439				chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr6:31726375C>A	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.1194C>A	6.37:g.31726375C>A	ENSP00000364908:p.Asn398Lys					MSH5_uc003nwt.1_Missense_Mutation_p.N415K|MSH5_uc003nwu.1_Missense_Mutation_p.N398K|MSH5_uc003nww.1_Missense_Mutation_p.N398K|MSH5_uc003nwx.1_Missense_Mutation_p.N415K|MSH5_uc011dof.1_Missense_Mutation_p.N97K|MSH5_uc003nwy.1_Missense_Mutation_p.N72K|MSH5_uc003nwz.3_5'Flank	p.N398K	NM_172166	NP_751898	O43196	MSH5_HUMAN			14	1273	+			398					B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	37	c.1194C>A	CCDS4720.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324577	0.60634	.	.	ENSG00000204410	ENST00000375755;ENST00000375742;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000450148;ENST00000431848;ENST00000395853	D;D;D;D;D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59;-2.59;-2.59;-2.59;-2.59	5.82	3.11	0.35812	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.000000	0.85682	D	0.000000	D	0.87309	0.6145	L	0.52573	1.65	0.42283	D	0.992109	D;D;D;B;D	0.76494	0.967;0.998;0.999;0.364;0.997	P;D;D;B;D	0.68621	0.783;0.933;0.959;0.242;0.925	D	0.86607	0.1870	9	0.62326	D	0.03	-17.1979	6.8715	0.24123	0.0:0.6641:0.0:0.3359	.	83;415;398;398;415	Q59EC5;O43196-4;O43196;O43196-2;O43196-3	.;.;MSH5_HUMAN;.;.	K	398;415;398;415;398;415;240;97;72	ENSP00000364908:N398K;ENSP00000364894:N415K;ENSP00000364903:N398K;ENSP00000431693:N415K;ENSP00000364855:N398K;ENSP00000364892:N415K;ENSP00000394971:N240K;ENSP00000416784:N97K;ENSP00000379194:N72K	ENSP00000364855:N398K	N	+	3	2	MSH5	31834354	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	0.315000	0.19451	0.827000	0.34685	0.561000	0.74099	AAC		0.532	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			19	39	1	0	8.34e-07	1.27e-06	19	39				
EHMT2	10919	broad.mit.edu	37	6	31854582	31854582	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:31854582C>T	ENST00000375537.4	-	17	2217	c.2211G>A	c.(2209-2211)atG>atA	p.M737I	EHMT2_ENST00000375528.4_Missense_Mutation_p.M760I|EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000395728.3_Missense_Mutation_p.M794I|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.M703I	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	737					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						CACGCTGCACCATGTAACGGG	0.622																																						uc003nxz.1		NA																	0				ovary(1)	1						c.(2209-2211)ATG>ATA		euchromatic histone-lysine N-methyltransferase 2							143.0	129.0	134.0					6																	31854582		2203	4300	6503	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.chr6:31854582C>T	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.2211G>A	6.37:g.31854582C>T	ENSP00000364687:p.Met737Ile					EHMT2_uc003nxv.1_5'Flank|EHMT2_uc003nxw.1_5'Flank|EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Missense_Mutation_p.M528I|EHMT2_uc011don.1_Missense_Mutation_p.M760I|EHMT2_uc003nya.1_Missense_Mutation_p.M703I	p.M737I	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN			17	2221	-			737			ANK 3.		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.2211G>A	CCDS4725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.35|18.35	3.605834|3.605834	0.66445|0.66445	.|.	.|.	ENSG00000204371|ENSG00000204371	ENST00000436026|ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	.|T;T;T;T	.|0.63744	.|-0.06;-0.06;-0.06;-0.06	5.36|5.36	5.36|5.36	0.76844|0.76844	.|Ankyrin repeat-containing domain (3);	.|0.061993	.|0.64402	.|D	.|0.000001	T|T	0.29321|0.29321	0.0730|0.0730	N|N	0.02916|0.02916	-0.46|-0.46	0.47407|0.47407	D|D	0.999411|0.999411	.|B;B;B;B	.|0.30236	.|0.274;0.029;0.027;0.013	.|B;B;B;B	.|0.34346	.|0.18;0.064;0.063;0.044	T|T	0.36529|0.36529	-0.9744|-0.9744	5|10	.|0.40728	.|T	.|0.16	.|.	17.8615|17.8615	0.88783|0.88783	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|760;703;737;551	.|A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.|.;.;EHMT2_HUMAN;.	S|I	55|794;760;703;737;551	.|ENSP00000379078:M794I;ENSP00000364678:M760I;ENSP00000364680:M703I;ENSP00000364687:M737I	.|ENSP00000364678:M760I	G|M	-|-	1|3	0|0	EHMT2|EHMT2	31962561|31962561	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	2.747000|2.747000	0.47475|0.47475	2.486000|2.486000	0.83907|0.83907	0.655000|0.655000	0.94253|0.94253	GGT|ATG		0.622	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		35	158	0	0	0	0	35	158				
FANCE	2178	broad.mit.edu	37	6	35425701	35425701	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:35425701G>A	ENST00000229769.2	+	4	1094	c.909G>A	c.(907-909)gaG>gaA	p.E303E		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	303	Interaction with FANCC.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						AGGGGTTAGAGGGATTGGAGG	0.562			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003oko.1		NA	yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	N|F|S	"""Fanconi anemia, complementation group E"""			L		AML|leukemia			0				ovary(1)|lung(1)|skin(1)	3						c.(907-909)GAG>GAA	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group E							75.0	73.0	74.0					6																	35425701		2203	4300	6503	SO:0001819	synonymous_variant	2178	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr6:35425701G>A	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"""Fanconi anemia, complementation groups"""	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.909G>A	6.37:g.35425701G>A						FANCE_uc010jvw.1_Silent_p.E303E	p.E303E	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN			4	1094	+			303			Interaction with FANCC.		A8K907|Q4ZGH2	Silent	SNP	ENST00000229769.2	37	c.909G>A	CCDS4805.1																																																																																				0.562	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1			42	53	0	0	0	0	42	53				
KIF6	221458	broad.mit.edu	37	6	39507828	39507828	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:39507828C>A	ENST00000287152.7	-	13	1690	c.1596G>T	c.(1594-1596)caG>caT	p.Q532H	KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373215.3_Missense_Mutation_p.Q532H|KIF6_ENST00000373213.4_Missense_Mutation_p.Q371H|KIF6_ENST00000373216.3_Missense_Mutation_p.Q532H	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	532					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGCTGAAGTCCTGGGCCTGTG	0.458																																						uc003oot.2		NA																	0				breast(2)|central_nervous_system(1)	3						c.(1594-1596)CAG>CAT		kinesin family member 6							205.0	211.0	209.0					6																	39507828		2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39507828C>A	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1596G>T	6.37:g.39507828C>A	ENSP00000287152:p.Gln532His					KIF6_uc010jwz.1_Translation_Start_Site|KIF6_uc010jxa.1_Missense_Mutation_p.Q323H|KIF6_uc011dua.1_Missense_Mutation_p.Q532H|KIF6_uc010jxb.1_Intron	p.Q532H	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN			13	1691	-			532					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.1596G>T	CCDS4844.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.28|14.28	2.487936|2.487936	0.44249|0.44249	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215|ENST00000458470	T;T;T;T|.	0.72167|.	-0.63;-0.62;-0.43;-0.6|.	6.04|6.04	0.0249|0.0249	0.14143|0.14143	.|.	.|.	.|.	.|.	.|.	T|T	0.20700|0.20700	0.0498|0.0498	L|L	0.58101|0.58101	1.795|1.795	0.25359|0.25359	N|N	0.988793|0.988793	B;B;B|.	0.06786|.	0.001;0.001;0.0|.	B;B;B|.	0.08055|.	0.003;0.003;0.001|.	T|T	0.28427|0.28427	-1.0044|-1.0044	9|5	0.59425|.	D|.	0.04|.	.|.	4.2071|4.2071	0.10493|0.10493	0.2789:0.4363:0.0:0.2849|0.2789:0.4363:0.0:0.2849	.|.	532;532;532|.	E7EUN7;Q6ZMV9-3;Q6ZMV9|.	.;.;KIF6_HUMAN|.	H|M	532;532;371;532|424	ENSP00000287152:Q532H;ENSP00000362312:Q532H;ENSP00000362309:Q371H;ENSP00000362311:Q532H|.	ENSP00000287152:Q532H|.	Q|R	-|-	3|2	2|0	KIF6|KIF6	39615806|39615806	0.930000|0.930000	0.31532|0.31532	0.053000|0.053000	0.19242|0.19242	0.646000|0.646000	0.38490|0.38490	0.261000|0.261000	0.18442|0.18442	0.046000|0.046000	0.15833|0.15833	0.563000|0.563000	0.77884|0.77884	CAG|AGG		0.458	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		103	114	1	0	3.01e-42	5.77e-42	103	114				
DAAM2	23500	broad.mit.edu	37	6	39841095	39841095	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:39841095C>G	ENST00000398904.2	+	10	1308	c.1126C>G	c.(1126-1128)Ctg>Gtg	p.L376V	DAAM2_ENST00000538976.1_Missense_Mutation_p.L376V|DAAM2_ENST00000274867.4_Missense_Mutation_p.L376V			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	376	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CTACCCCTGCCTGCTCTCTGT	0.562																																						uc003oow.2		NA																	0				ovary(2)|skin(1)	3						c.(1126-1128)CTG>GTG		dishevelled associated activator of							76.0	82.0	80.0					6																	39841095		2160	4246	6406	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39841095C>G	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1126C>G	6.37:g.39841095C>G	ENSP00000381876:p.Leu376Val					DAAM2_uc010jxc.2_Missense_Mutation_p.L376V|DAAM2_uc003oox.2_Missense_Mutation_p.L376V	p.L376V	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN			10	1282	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		376			GBD/FH3.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.1126C>G	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587470	0.66105	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.84589	-1.87;-1.87;-1.87	5.93	3.1	0.35709	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.82623	0.5077	M	0.83603	2.65	0.80722	D	1	P;P	0.50819	0.925;0.939	B;P	0.48227	0.435;0.571	D	0.83406	0.0025	10	0.72032	D	0.01	.	8.3968	0.32561	0.0:0.5804:0.0:0.4196	.	376;376	G5EA45;Q86T65	.;DAAM2_HUMAN	V	376	ENSP00000274867:L376V;ENSP00000381876:L376V;ENSP00000437808:L376V	ENSP00000274867:L376V	L	+	1	2	DAAM2	39949073	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.183000	0.32041	0.799000	0.34018	0.561000	0.74099	CTG		0.562	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			3	19	0	0	0	0	3	19				
TREML2	79865	broad.mit.edu	37	6	41165984	41165984	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:41165984T>C	ENST00000483722.1	-	2	424	c.239A>G	c.(238-240)cAg>cGg	p.Q80R		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	80	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCATCGTCCTGCAGCAAGTA	0.582																																						uc010jxm.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(238-240)CAG>CGG		triggering receptor expressed on myeloid							129.0	116.0	121.0					6																	41165984		2203	4300	6503	SO:0001583	missense	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41165984T>C	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.239A>G	6.37:g.41165984T>C	ENSP00000418767:p.Gln80Arg						p.Q80R	NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN			2	418	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		80			Ig-like V-type.|Extracellular (Potential).		Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	c.239A>G	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	13.22	2.173388	0.38413	.	.	ENSG00000112195	ENST00000483722	T	0.21191	2.02	4.75	2.37	0.29283	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.367080	0.23252	N	0.050228	T	0.02571	0.0078	N	0.21142	0.635	0.19575	N	0.999967	P	0.37708	0.606	B	0.35859	0.212	T	0.40850	-0.9541	10	0.02654	T	1	-4.314	5.9703	0.19349	0.0:0.2198:0.0:0.7802	.	80	Q5T2D2	TRML2_HUMAN	R	80	ENSP00000418767:Q80R	ENSP00000418767:Q80R	Q	-	2	0	TREML2	41273962	0.987000	0.35691	0.191000	0.23289	0.973000	0.67179	0.712000	0.25779	0.291000	0.22468	0.460000	0.39030	CAG		0.582	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		22	108	0	0	0	0	22	108				
CUL7	9820	broad.mit.edu	37	6	43013126	43013126	+	Silent	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:43013126C>G	ENST00000265348.3	-	15	2962	c.2877G>C	c.(2875-2877)acG>acC	p.T959T	CUL7_ENST00000535468.1_Silent_p.T1043T|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	959	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCCGAATGCGCGTATCAATGC	0.597																																						uc003otq.2		NA																	0				ovary(3)|kidney(1)	4						c.(2875-2877)ACG>ACC		cullin 7							197.0	172.0	181.0					6																	43013126		2203	4300	6503	SO:0001819	synonymous_variant	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43013126C>G	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.2877G>C	6.37:g.43013126C>G						CUL7_uc010jyg.2_Silent_p.T238T|CUL7_uc011dvb.1_Silent_p.T1043T|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	p.T959T	NM_014780	NP_055595	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		15	3180	-			959			DOC.		B4DYZ0|F5H0L1|Q5T654	Silent	SNP	ENST00000265348.3	37	c.2877G>C	CCDS4881.1																																																																																				0.597	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		38	105	0	0	0	0	38	105				
TFAP2B	7021	broad.mit.edu	37	6	50803949	50803949	+	Silent	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:50803949C>G	ENST00000393655.3	+	4	946	c.777C>G	c.(775-777)ccC>ccG	p.P259P	TFAP2B_ENST00000263046.4_Silent_p.P268P	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	259					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GGCTGTCGCCCCCTGAATGCC	0.498																																					Pancreas(116;1373 2332 5475 10752)	uc003pag.2		NA																	0					0						c.(775-777)CCC>CCG		transcription factor AP-2 beta							52.0	49.0	50.0					6																	50803949		2203	4300	6503	SO:0001819	synonymous_variant	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50803949C>G	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.777C>G	6.37:g.50803949C>G							p.P259P	NM_003221	NP_003212	Q92481	AP2B_HUMAN			4	943	+	Lung NSC(77;0.156)		259					Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Silent	SNP	ENST00000393655.3	37	c.777C>G	CCDS4934.2																																																																																				0.498	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		25	26	0	0	0	0	25	26				
PKHD1	5314	broad.mit.edu	37	6	51890545	51890545	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:51890545G>A	ENST00000371117.3	-	32	4338	c.4063C>T	c.(4063-4065)Cct>Tct	p.P1355S	PKHD1_ENST00000340994.4_Missense_Mutation_p.P1355S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1355	IPT/TIG 8; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGTGAAGAGGGATGGAGCAT	0.502																																						uc003pah.1		NA																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(4063-4065)CCT>TCT		fibrocystin isoform 1							86.0	77.0	80.0					6																	51890545		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51890545G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.4063C>T	6.37:g.51890545G>A	ENSP00000360158:p.Pro1355Ser					PKHD1_uc003pai.2_Missense_Mutation_p.P1355S	p.P1355S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			32	4339	-	Lung NSC(77;0.0605)		1355			IPT/TIG 8; atypical.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.4063C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923501	0.52653	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.91180	-2.71;-2.8	5.87	5.01	0.66863	.	0.069647	0.64402	N	0.000011	D	0.92971	0.7763	M	0.71581	2.175	0.33801	D	0.626671	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.93341	0.6710	10	0.51188	T	0.08	.	13.951	0.64116	0.0724:0.0:0.9276:0.0	.	1355;1355	P08F94-2;P08F94	.;PKHD1_HUMAN	S	1355	ENSP00000360158:P1355S;ENSP00000341097:P1355S	ENSP00000341097:P1355S	P	-	1	0	PKHD1	51998504	1.000000	0.71417	0.948000	0.38648	0.166000	0.22503	3.722000	0.54948	1.494000	0.48533	0.655000	0.94253	CCT		0.502	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		15	51	0	0	0	0	15	51				
COL12A1	1303	broad.mit.edu	37	6	75843070	75843070	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:75843070C>A	ENST00000322507.8	-	34	6042	c.5733G>T	c.(5731-5733)gtG>gtT	p.V1911V	COL12A1_ENST00000483888.2_Silent_p.V1911V|COL12A1_ENST00000345356.6_Silent_p.V747V|COL12A1_ENST00000416123.2_Silent_p.V1911V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1911	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GAACTACAGTCACAGTGTATG	0.378																																						uc003phs.2		NA																	0				ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(5731-5733)GTG>GTT		collagen, type XII, alpha 1 long isoform							125.0	117.0	120.0					6																	75843070		1874	4101	5975	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75843070C>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5733G>T	6.37:g.75843070C>A						COL12A1_uc003pht.2_Silent_p.V747V	p.V1911V	NM_004370	NP_004361	Q99715	COCA1_HUMAN			34	5899	-			1911			Fibronectin type-III 14.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.5733G>T	CCDS43482.1																																																																																				0.378	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		13	44	1	0	2.32e-05	3.38e-05	13	44				
IBTK	25998	broad.mit.edu	37	6	82911176	82911176	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:82911176C>G	ENST00000306270.7	-	19	3302	c.2753G>C	c.(2752-2754)gGt>gCt	p.G918A	IBTK_ENST00000503631.1_Missense_Mutation_p.G717A|IBTK_ENST00000510291.1_Missense_Mutation_p.G918A	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	918					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CTTCAAAACACCATCGCTTAA	0.318																																						uc003pjl.1		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(2752-2754)GGT>GCT		inhibitor of Bruton's tyrosine kinase							64.0	57.0	59.0					6																	82911176		2203	4297	6500	SO:0001583	missense	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82911176C>G	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.2753G>C	6.37:g.82911176C>G	ENSP00000305721:p.Gly918Ala					IBTK_uc011dyu.1_5'UTR|IBTK_uc011dyv.1_Missense_Mutation_p.G918A|IBTK_uc011dyw.1_Missense_Mutation_p.G717A|IBTK_uc010kbi.1_Missense_Mutation_p.G612A|IBTK_uc003pjm.2_Missense_Mutation_p.G918A	p.G918A	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	19	3280	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	918					Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	c.2753G>C	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961930	0.34659	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.26373	2.04;1.74;2.04	5.44	-2.66	0.06077	.	0.355997	0.30723	N	0.009007	T	0.02533	0.0077	N	0.02802	-0.49	0.24973	N	0.991653	B;B;B;B	0.24882	0.113;0.0;0.002;0.0	B;B;B;B	0.14578	0.011;0.001;0.005;0.002	T	0.38908	-0.9639	10	0.52906	T	0.07	-1.0384	6.7669	0.23573	0.0:0.1085:0.3935:0.498	.	717;918;918;918	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	A	918;717;918	ENSP00000305721:G918A;ENSP00000422762:G717A;ENSP00000426405:G918A	ENSP00000305721:G918A	G	-	2	0	IBTK	82967895	0.968000	0.33430	0.993000	0.49108	0.984000	0.73092	0.941000	0.29005	-0.204000	0.10235	0.585000	0.79938	GGT		0.318	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525		11	13	0	0	0	0	11	13				
DOPEY1	23033	broad.mit.edu	37	6	83850121	83850121	+	Splice_Site	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:83850121A>G	ENST00000349129.2	+	23	5674	c.5414A>G	c.(5413-5415)aAg>aGg	p.K1805R	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Splice_Site_p.K1786R|DOPEY1_ENST00000369739.3_Splice_Site_p.K1796R	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1805					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GGAGCTACAAAGGTTAGACAA	0.378																																						uc003pjs.1		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(5413-5415)AAG>AGG		dopey family member 1							106.0	105.0	105.0					6																	83850121		2203	4300	6503	SO:0001630	splice_region_variant	23033				protein transport			g.chr6:83850121A>G	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.5415+1A>G	6.37:g.83850121A>G						DOPEY1_uc011dyy.1_Missense_Mutation_p.K1796R|DOPEY1_uc010kbl.1_Missense_Mutation_p.K1796R|DOPEY1_uc003pjt.2_RNA	p.K1805R	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	23	5674	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1805					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.5414A>G	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.255333	0.59321	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.24908	1.83;1.83	5.37	5.37	0.77165	.	0.086330	0.85682	D	0.000000	T	0.27419	0.0673	L	0.45422	1.42	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.73380	0.98;0.98;0.98	T	0.04413	-1.0953	10	0.11485	T	0.65	.	15.6528	0.77110	1.0:0.0:0.0:0.0	.	1696;1796;1805	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	R	1805;1786;1786	ENSP00000195654:K1805R;ENSP00000237163:K1786R	ENSP00000237163:K1786R	K	+	2	0	DOPEY1	83906840	1.000000	0.71417	1.000000	0.80357	0.339000	0.28857	8.910000	0.92685	2.156000	0.67533	0.477000	0.44152	AAG		0.378	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018	Missense_Mutation	15	41	0	0	0	0	15	41				
GABRR2	2570	broad.mit.edu	37	6	89975369	89975369	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:89975369C>A	ENST00000402938.3	-	7	985	c.852G>T	c.(850-852)tgG>tgT	p.W284C	GABRR2_ENST00000602399.1_Missense_Mutation_p.W309C	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	284					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TGCGGTCGATCCAGAAGGACA	0.453																																						uc003pnb.2		NA																	0					0						c.(925-927)TGG>TGT		gamma-aminobutyric acid (GABA) receptor, rho 2							132.0	112.0	119.0					6																	89975369		2203	4300	6503	SO:0001583	missense	2570				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89975369C>A		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.852G>T	6.37:g.89975369C>A	ENSP00000386029:p.Trp284Cys					GABRR2_uc011dzx.1_Missense_Mutation_p.W185C	p.W309C	NM_002043	NP_002034	P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	7	935	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	309					A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	c.927G>T	CCDS5020.3	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588476	0.86851	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.83	5.83	0.93111	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.84365	0.5456	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85961	0.1470	8	.	.	.	.	20.1111	0.97911	0.0:1.0:0.0:0.0	.	309	P28476	GBRR2_HUMAN	C	309	.	.	W	-	3	0	GABRR2	90032088	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.792000	0.85828	2.741000	0.93983	0.655000	0.94253	TGG		0.453	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			22	37	1	0	4.4e-07	6.75e-07	22	37				
FUT9	10690	broad.mit.edu	37	6	96651163	96651163	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:96651163C>A	ENST00000302103.5	+	3	458	c.132C>A	c.(130-132)gcC>gcA	p.A44A		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	44					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TGGAATCAGCCAGCTCTGTGC	0.403																																					Melanoma(98;1369 1476 6592 22940 26587)	uc003pop.3		NA																	0				skin(4)|ovary(1)	5						c.(130-132)GCC>GCA		fucosyltransferase 9 (alpha (1,3)							91.0	88.0	89.0					6																	96651163		2203	4300	6503	SO:0001819	synonymous_variant	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651163C>A	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.132C>A	6.37:g.96651163C>A							p.A44A	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	473	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	44			Lumenal (Potential).		Q5T0W4	Silent	SNP	ENST00000302103.5	37	c.132C>A	CCDS5033.1																																																																																				0.403	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		32	34	1	0	1.63e-12	2.77e-12	32	34				
KLHL32	114792	broad.mit.edu	37	6	97562042	97562042	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:97562042C>T	ENST00000369261.4	+	7	1374	c.1011C>T	c.(1009-1011)agC>agT	p.S337S	KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000536676.1_Silent_p.S301S|KLHL32_ENST00000539200.1_Silent_p.S268S	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	337										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TGGGAAGGAGCCACCATTGTG	0.562																																						uc010kcm.1		NA																	0				ovary(3)|skin(1)	4						c.(1009-1011)AGC>AGT		kelch-like 32							93.0	88.0	90.0					6																	97562042		2203	4300	6503	SO:0001819	synonymous_variant	114792							g.chr6:97562042C>T	AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.1011C>T	6.37:g.97562042C>T						KLHL32_uc003poy.2_Silent_p.S337S|KLHL32_uc011ead.1_Silent_p.S301S|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Silent_p.S268S|KLHL32_uc003ppa.2_Intron	p.S337S	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0558)	7	1483	+		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)	337			Kelch 1.		B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Silent	SNP	ENST00000369261.4	37	c.1011C>T	CCDS5038.1																																																																																				0.562	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904		16	70	0	0	0	0	16	70				
POPDC3	64208	broad.mit.edu	37	6	105609578	105609578	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:105609578C>G	ENST00000254765.3	-	2	485	c.207G>C	c.(205-207)tgG>tgC	p.W69C	BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000369122.3_RNA|POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000369120.2_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	69					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				AGACATCTACCCAAGCCCAGA	0.428																																						uc003prb.2		NA																	0				skin(3)|ovary(2)	5						c.(205-207)TGG>TGC		popeye protein 3							105.0	120.0	115.0					6																	105609578		2203	4300	6503	SO:0001583	missense	64208					integral to membrane		g.chr6:105609578C>G	BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.207G>C	6.37:g.105609578C>G	ENSP00000254765:p.Trp69Cys					uc003pqz.2_Intron|POPDC3_uc003pra.2_Intron	p.W69C	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN			2	609	-		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)	69			Helical; (Potential).		B2RA98|Q5T3Y8|Q8TBW6	Missense_Mutation	SNP	ENST00000254765.3	37	c.207G>C	CCDS5052.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.405795	0.83230	.	.	ENSG00000132429	ENST00000254765	T	0.45276	0.9	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.64283	0.2584	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.67409	-0.5678	10	0.72032	D	0.01	-44.2744	19.867	0.96808	0.0:1.0:0.0:0.0	.	69	Q9HBV1	POPD3_HUMAN	C	69	ENSP00000254765:W69C	ENSP00000254765:W69C	W	-	3	0	POPDC3	105716271	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.704000	0.92352	0.655000	0.94253	TGG		0.428	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361		33	118	0	0	0	0	33	118				
PREP	5550	broad.mit.edu	37	6	105821390	105821390	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:105821390C>A	ENST00000369110.3	-	5	641	c.449G>T	c.(448-450)tGg>tTg	p.W150L		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	150					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)	p.W150*(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GATTGTCACCCAGTCTGAGCC	0.473																																						uc003prc.2		NA																	1	Substitution - Nonsense(1)	p.W150*(1)	ovary(1)	ovary(3)	3						c.(448-450)TGG>TTG		prolyl endopeptidase	Oxytocin(DB00107)						127.0	111.0	116.0					6																	105821390		2203	4300	6503	SO:0001583	missense	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105821390C>A		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.449G>T	6.37:g.105821390C>A	ENSP00000358106:p.Trp150Leu						p.W150L	NM_002726	NP_002717	P48147	PPCE_HUMAN			5	652	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)	150					Q8N6D4	Missense_Mutation	SNP	ENST00000369110.3	37	c.449G>T	CCDS5053.1	.	.	.	.	.	.	.	.	.	.	C	35	5.436026	0.96168	.	.	ENSG00000085377	ENST00000369110	T	0.49139	0.79	6.02	6.02	0.97574	Peptidase S9A, oligopeptidase, N-terminal (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (2);	0.000000	0.85682	D	0.000000	T	0.76800	0.4038	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81870	-0.0734	10	0.72032	D	0.01	-9.0746	20.5373	0.99239	0.0:1.0:0.0:0.0	.	150	P48147	PPCE_HUMAN	L	150	ENSP00000358106:W150L	ENSP00000358106:W150L	W	-	2	0	PREP	105928083	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.857000	0.98124	0.650000	0.86243	TGG		0.473	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1			15	47	1	0	0.00244969	0.00336298	15	47				
LAMA4	3910	broad.mit.edu	37	6	112457395	112457395	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:112457395A>C	ENST00000230538.7	-	25	3741	c.3344T>G	c.(3343-3345)tTc>tGc	p.F1115C	LAMA4_ENST00000424408.2_Missense_Mutation_p.F1108C|LAMA4_ENST00000522006.1_Missense_Mutation_p.F1108C|LAMA4_ENST00000389463.4_Missense_Mutation_p.F1108C	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1115	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GCCACCGCTGAATCCAAAATC	0.378																																						uc003pvu.2		NA																	0				ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(3343-3345)TTC>TGC		laminin, alpha 4 isoform 1 precursor							130.0	117.0	121.0					6																	112457395		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112457395A>C		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.3344T>G	6.37:g.112457395A>C	ENSP00000230538:p.Phe1115Cys					LAMA4_uc003pvv.2_Missense_Mutation_p.F1108C|LAMA4_uc003pvt.2_Missense_Mutation_p.F1108C	p.F1115C	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	25	3653	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1115			Laminin G-like 2.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.3344T>G	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.080283	0.76528	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.157540	0.64402	D	0.000009	D	0.83013	0.5162	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.83115	-0.0121	10	0.44086	T	0.13	.	16.3766	0.83401	1.0:0.0:0.0:0.0	.	1115;1108	Q16363;Q16363-2	LAMA4_HUMAN;.	C	1115;1108;1108;1108	ENSP00000230538:F1115C;ENSP00000429488:F1108C;ENSP00000374114:F1108C;ENSP00000416470:F1108C	ENSP00000230538:F1115C	F	-	2	0	LAMA4	112564088	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	8.538000	0.90634	2.263000	0.75096	0.533000	0.62120	TTC		0.378	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		3	45	0	0	0	0	3	45				
LAMA4	3910	broad.mit.edu	37	6	112486448	112486448	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:112486448C>T	ENST00000230538.7	-	13	1979	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	LAMA4_ENST00000424408.2_Missense_Mutation_p.E521K|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000522006.1_Missense_Mutation_p.E521K|LAMA4_ENST00000389463.4_Missense_Mutation_p.E521K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	528	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTCACCACTTCCATTTGTTCC	0.453																																						uc003pvu.2		NA																	0				ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(1582-1584)GAA>AAA		laminin, alpha 4 isoform 1 precursor							186.0	160.0	169.0					6																	112486448		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112486448C>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1582G>A	6.37:g.112486448C>T	ENSP00000230538:p.Glu528Lys					LAMA4_uc003pvv.2_Missense_Mutation_p.E521K|LAMA4_uc003pvt.2_Missense_Mutation_p.E521K	p.E528K	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	13	1891	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	528			Potential.|Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.1582G>A	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	3.471	-0.107887	0.06924	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.09445	2.98;2.98;2.98;2.98	4.89	4.89	0.63831	Laminin I (1);	0.522444	0.19929	N	0.102909	T	0.03564	0.0102	L	0.40543	1.245	0.58432	D	0.999999	P;P	0.38504	0.491;0.634	B;B	0.34536	0.185;0.116	T	0.35001	-0.9806	10	0.10902	T	0.67	.	13.5473	0.61711	0.0:1.0:0.0:0.0	.	528;521	Q16363;Q16363-2	LAMA4_HUMAN;.	K	528;521;521;521	ENSP00000230538:E528K;ENSP00000429488:E521K;ENSP00000374114:E521K;ENSP00000416470:E521K	ENSP00000230538:E528K	E	-	1	0	LAMA4	112593141	0.170000	0.23016	0.174000	0.22961	0.059000	0.15707	2.780000	0.47742	2.260000	0.74910	0.484000	0.47621	GAA		0.453	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		19	64	0	0	0	0	19	64				
ROS1	6098	broad.mit.edu	37	6	117680986	117680986	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:117680986G>T	ENST00000368508.3	-	23	3832	c.3634C>A	c.(3634-3636)Cgc>Agc	p.R1212S	ROS1_ENST00000368507.3_Missense_Mutation_p.R1207S|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1212					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GAGCTAGAGCGATTGTGCAAG	0.393			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1		NA		Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		0				lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(3634-3636)CGC>AGC		proto-oncogene c-ros-1 protein precursor							126.0	122.0	123.0					6																	117680986		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117680986G>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3634C>A	6.37:g.117680986G>T	ENSP00000357494:p.Arg1212Ser					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.R1212S	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	23	3833	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1212			Extracellular (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.3634C>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	1.865	-0.461608	0.04508	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.90504	-2.68;-2.68	5.04	1.91	0.25777	.	1.141490	0.06536	N	0.742424	T	0.62221	0.2410	N	0.14661	0.345	0.09310	N	1	B	0.15473	0.013	B	0.12837	0.008	T	0.57487	-0.7803	10	0.05959	T	0.93	.	8.8073	0.34945	0.0:0.1287:0.3189:0.5524	.	1212	P08922	ROS1_HUMAN	S	1212;1207	ENSP00000357494:R1212S;ENSP00000357493:R1207S	ENSP00000357493:R1207S	R	-	1	0	ROS1	117787679	0.078000	0.21339	0.004000	0.12327	0.889000	0.51656	0.558000	0.23469	0.564000	0.29238	0.655000	0.94253	CGC		0.393	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			29	39	1	0	1.89e-17	3.41e-17	29	39				
TBC1D32	221322	broad.mit.edu	37	6	121562642	121562642	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:121562642T>A	ENST00000398212.2	-	19	2263	c.2214A>T	c.(2212-2214)acA>acT	p.T738T	TBC1D32_ENST00000275159.6_Silent_p.T738T	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	738					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										CACCTGCTGCTGTTGATGCCA	0.333																																						uc003pyo.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(2212-2214)ACA>ACT		hypothetical protein LOC221322							109.0	100.0	103.0					6																	121562642		1887	4115	6002	SO:0001819	synonymous_variant	221322				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	g.chr6:121562642T>A	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2214A>T	6.37:g.121562642T>A						C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_Silent_p.T257T	p.T738T	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	19	2282	-			738					Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Silent	SNP	ENST00000398212.2	37	c.2214A>T	CCDS43501.1																																																																																				0.333	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		8	28	0	0	0	0	8	28				
TRDN	10345	broad.mit.edu	37	6	123869599	123869599	+	Splice_Site	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:123869599C>G	ENST00000398178.3	-	3	412	c.391G>C	c.(391-393)Gga>Cga	p.G131R	TRDN_ENST00000546248.1_Splice_Site_p.G131R|TRDN_ENST00000334268.4_Splice_Site_p.G131R|TRDN_ENST00000542443.1_Splice_Site_p.G131R	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	131					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TTCTTTGTACCTTTATCAGTA	0.368																																						uc003pzj.1		NA																	0				ovary(1)	1						c.(391-393)GGA>CGA		triadin							54.0	52.0	52.0					6																	123869599		1879	4106	5985	SO:0001630	splice_region_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123869599C>G	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.391+1G>C	6.37:g.123869599C>G						TRDN_uc003pzk.1_Missense_Mutation_p.G131R|TRDN_uc003pzl.1_Missense_Mutation_p.G131R|TRDN_uc010ken.2_Missense_Mutation_p.G131R|TRDN_uc010keo.1_Missense_Mutation_p.G131R	p.G131R	NM_006073	NP_006064	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	3	413	-			131			Lumenal.		A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	ENST00000398178.3	37	c.391G>C	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	C	7.419	0.636401	0.14386	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268;ENST00000542014;ENST00000543022;ENST00000546248;ENST00000333613;ENST00000542443;ENST00000265491	T;T;T;T	0.65732	0.56;0.56;0.56;-0.17	5.05	5.05	0.67936	Aspartyl beta-hydroxylase/Triadin domain (1);	0.133035	0.49305	D	0.000144	T	0.75027	0.3794	M	0.79475	2.455	0.37928	D	0.931903	D;D;D;D;D	0.89917	0.996;1.0;1.0;1.0;1.0	P;D;D;D;D	0.97110	0.9;0.984;1.0;1.0;1.0	T	0.77579	-0.2535	9	.	.	.	-17.3345	16.5767	0.84681	0.0:1.0:0.0:0.0	.	131;131;131;131;131	F5H6E3;F5H2W7;Q5SWK9;Q8IVK2;Q13061	.;.;.;.;TRDN_HUMAN	R	131;131;131;131;131;131;36;131;36	ENSP00000381240:G131R;ENSP00000333984:G131R;ENSP00000439281:G131R;ENSP00000437684:G131R	.	G	-	1	0	TRDN	123911298	1.000000	0.71417	1.000000	0.80357	0.113000	0.19764	4.699000	0.61796	2.322000	0.78497	0.643000	0.83706	GGA		0.368	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			Missense_Mutation	3	6	0	0	0	0	3	6				
EYA4	2070	broad.mit.edu	37	6	133836544	133836544	+	Silent	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:133836544A>T	ENST00000367895.5	+	17	2051	c.1587A>T	c.(1585-1587)gcA>gcT	p.A529A	EYA4_ENST00000355167.3_Silent_p.A529A|EYA4_ENST00000355286.6_Silent_p.A506A|EYA4_ENST00000525849.1_Silent_p.A506A|EYA4_ENST00000531901.1_Silent_p.A535A|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Silent_p.A529A|EYA4_ENST00000430974.2_Silent_p.A481A|EYA4_ENST00000452339.2_Silent_p.A475A	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	529					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TAACAAATGCACTTAAGTCTT	0.393																																					Melanoma(57;398 1237 3528 4702 7415)	uc003qec.3		NA																	0				large_intestine(2)	2						c.(1585-1587)GCA>GCT		eyes absent 4 isoform a							184.0	177.0	179.0					6																	133836544		2203	4300	6503	SO:0001819	synonymous_variant	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133836544A>T	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1587A>T	6.37:g.133836544A>T						EYA4_uc011ecq.1_Silent_p.A475A|EYA4_uc011ecr.1_Silent_p.A481A|EYA4_uc003qed.3_Silent_p.A529A|EYA4_uc003qee.3_Silent_p.A506A|EYA4_uc011ecs.1_Silent_p.A535A|uc003qeg.1_Intron	p.A529A	NM_004100	NP_004091	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	17	2045	+	Colorectal(23;0.221)		529					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Silent	SNP	ENST00000367895.5	37	c.1587A>T	CCDS5165.1																																																																																				0.393	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		35	121	0	0	0	0	35	121				
CCDC170	80129	broad.mit.edu	37	6	151917620	151917620	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:151917620A>C	ENST00000239374.7	+	9	1717	c.1618A>C	c.(1618-1620)Aag>Cag	p.K540Q	CCDC170_ENST00000367290.5_Missense_Mutation_p.K540Q	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	540																	GAACTTGCAGAAGAAGGTGGA	0.562																																						uc003qol.2		NA																	0					0						c.(1618-1620)AAG>CAG		hypothetical protein LOC80129							90.0	98.0	95.0					6																	151917620		2147	4255	6402	SO:0001583	missense	80129							g.chr6:151917620A>C	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1618A>C	6.37:g.151917620A>C	ENSP00000239374:p.Lys540Gln						p.K540Q	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	9	1707	+		Ovarian(120;0.126)	540			Potential.		Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.1618A>C	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.102299	0.56183	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.76316	2.86;-1.01	5.48	5.48	0.80851	.	0.062024	0.64402	D	0.000008	D	0.85133	0.5627	M	0.79805	2.47	0.50813	D	0.999895	D	0.76494	0.999	D	0.74023	0.982	D	0.85201	0.1015	10	0.38643	T	0.18	-20.6538	15.5783	0.76410	1.0:0.0:0.0:0.0	.	540	Q8IYT3	CF097_HUMAN	Q	540	ENSP00000239374:K540Q;ENSP00000356259:K540Q	ENSP00000239374:K540Q	K	+	1	0	C6orf97	151959313	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	6.452000	0.73485	2.081000	0.62600	0.533000	0.62120	AAG		0.562	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		21	74	0	0	0	0	21	74				
SYNE1	23345	broad.mit.edu	37	6	152443676	152443676	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:152443676G>T	ENST00000367255.5	-	146	26890	c.26289C>A	c.(26287-26289)tgC>tgA	p.C8763*	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.C8715*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.C8375*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.C8763*|ESR1_ENST00000427531.2_Intron|SYNE1_ENST00000354674.4_Nonsense_Mutation_p.C941*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.C3287*|SYNE1_ENST00000539504.1_Nonsense_Mutation_p.C918*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.C8715*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8763	KASH. {ECO:0000255|PROSITE- ProRule:PRU00385}.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGGTACAAGGCAGGCAAGCC	0.602										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(26287-26289)TGC>TGA		spectrin repeat containing, nuclear envelope 1							100.0	89.0	93.0					6																	152443676		2203	4300	6503	SO:0001587	stop_gained	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152443676G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.26289C>A	6.37:g.152443676G>T	ENSP00000356224:p.Cys8763*	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Nonsense_Mutation_p.C3287*|SYNE1_uc003qos.3_Nonsense_Mutation_p.C3287*|SYNE1_uc003qot.3_Nonsense_Mutation_p.C8715*|SYNE1_uc003qou.3_Nonsense_Mutation_p.C8763*|SYNE1_uc003qop.3_Nonsense_Mutation_p.C948*|SYNE1_uc011eez.1_3'UTR|SYNE1_uc003qoq.3_3'UTR|SYNE1_uc003qor.3_3'UTR	p.C8763*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	146	26891	-		Ovarian(120;0.0955)	8763	Missing: Abolishes the nuclear envelope targeting, induces a cytoplasmic localization.		Helical; Anchor for type IV membrane protein; (Potential).|KASH.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.26289C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	51	18.036763	0.99898	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000354674	.	.	.	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7767	0.63057	0.0734:0.0:0.9266:0.0	.	.	.	.	X	8763;918;8715;8763;8715;8375;3287;948;943;941	.	ENSP00000265368:C8763X	C	-	3	2	SYNE1	152485369	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.759000	0.68785	2.616000	0.88540	0.655000	0.94253	TGC		0.602	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		14	60	1	0	9.31e-06	1.38e-05	14	60				
SYNE1	23345	broad.mit.edu	37	6	152456317	152456317	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:152456317G>T	ENST00000367255.5	-	142	26311	c.25710C>A	c.(25708-25710)gaC>gaA	p.D8570E	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.D8522E|SYNE1_ENST00000341594.5_Missense_Mutation_p.D8182E|SYNE1_ENST00000265368.4_Missense_Mutation_p.D8570E|SYNE1_ENST00000354674.4_Missense_Mutation_p.D748E|SYNE1_ENST00000356820.4_Missense_Mutation_p.D3094E|SYNE1_ENST00000539504.1_Missense_Mutation_p.D725E|SYNE1_ENST00000423061.1_Missense_Mutation_p.D8522E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8570					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTTCCTTCTGTCAATGTTCT	0.353										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(25708-25710)GAC>GAA		spectrin repeat containing, nuclear envelope 1							107.0	98.0	101.0					6																	152456317		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152456317G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25710C>A	6.37:g.152456317G>T	ENSP00000356224:p.Asp8570Glu	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.D3094E|SYNE1_uc003qos.3_Missense_Mutation_p.D3094E|SYNE1_uc003qot.3_Missense_Mutation_p.D8522E|SYNE1_uc003qou.3_Missense_Mutation_p.D8570E|SYNE1_uc003qop.3_Missense_Mutation_p.D755E|SYNE1_uc011eez.1_Missense_Mutation_p.D772E|SYNE1_uc003qoq.3_Missense_Mutation_p.D772E|SYNE1_uc003qor.3_Missense_Mutation_p.D1493E	p.D8570E	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	142	26312	-		Ovarian(120;0.0955)	8570			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.25710C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813681	0.32053	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9	6.1	4.31	0.51392	.	0.000000	0.56097	D	0.000025	T	0.21186	0.0510	N	0.20766	0.605	0.51012	D	0.999901	D;D;D;D;B	0.89917	1.0;1.0;1.0;1.0;0.031	D;D;D;D;B	0.91635	0.999;0.999;0.999;0.999;0.019	T	0.04946	-1.0916	10	0.26408	T	0.33	.	12.9995	0.58667	0.1315:0.0:0.8685:0.0	.	8570;8570;8522;8522;772	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	E	8570;725;1216;8522;8570;8522;8182;3094;755;750;1515;748	ENSP00000356224:D8570E;ENSP00000441052:D725E;ENSP00000356226:D1216E;ENSP00000396024:D8522E;ENSP00000265368:D8570E;ENSP00000390975:D8522E;ENSP00000341887:D8182E;ENSP00000349276:D3094E;ENSP00000356220:D1515E;ENSP00000346701:D748E	ENSP00000265368:D8570E	D	-	3	2	SYNE1	152498010	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.921000	0.48852	1.586000	0.49944	0.650000	0.86243	GAC		0.353	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		16	21	1	0	6.32e-08	9.95e-08	16	21				
SLC22A1	6580	broad.mit.edu	37	6	160557345	160557345	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:160557345G>A	ENST00000366963.4	+	5	1080	c.933G>A	c.(931-933)aaG>aaA	p.K311K	SLC22A1_ENST00000457470.2_Silent_p.K311K|SLC22A1_ENST00000324965.4_Silent_p.K311K	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	311					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	AGAATGGGAAGTTGCCTCCTG	0.498																																						uc003qtc.2		NA																	0					0						c.(931-933)AAG>AAA		solute carrier family 22 member 1 isoform a							121.0	115.0	117.0					6																	160557345		2203	4300	6503	SO:0001819	synonymous_variant	6580					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding	g.chr6:160557345G>A	U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"""Solute carriers"""	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.933G>A	6.37:g.160557345G>A						SLC22A1_uc003qtd.2_Silent_p.K311K	p.K311K	NM_003057	NP_003048	O15245	S22A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	5	1038	+		Breast(66;0.000776)|Ovarian(120;0.00556)	311			Cytoplasmic (Potential).		A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	Silent	SNP	ENST00000366963.4	37	c.933G>A	CCDS5274.1																																																																																				0.498	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042938.2			22	40	0	0	0	0	22	40				
MAD1L1	8379	broad.mit.edu	37	7	1937910	1937910	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:1937910C>T	ENST00000406869.1	-	18	2481	c.1924G>A	c.(1924-1926)Gac>Aac	p.D642N	MAD1L1_ENST00000399654.2_Missense_Mutation_p.D642N|MAD1L1_ENST00000402746.1_Missense_Mutation_p.D550N|MAD1L1_ENST00000265854.7_Missense_Mutation_p.D642N			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	642					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GTGGTGATGTCGATCTGGTAG	0.612																																						uc003slh.1		NA																	0				lung(1)|central_nervous_system(1)	2						c.(1924-1926)GAC>AAC		MAD1-like 1 protein							137.0	164.0	155.0					7																	1937910		2163	4255	6418	SO:0001583	missense	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:1937910C>T	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1924G>A	7.37:g.1937910C>T	ENSP00000385334:p.Asp642Asn					MAD1L1_uc003sle.1_Missense_Mutation_p.D371N|MAD1L1_uc003slf.1_Missense_Mutation_p.D642N|MAD1L1_uc003slg.1_Missense_Mutation_p.D642N|MAD1L1_uc010ksh.1_Missense_Mutation_p.D642N|MAD1L1_uc003sli.1_Missense_Mutation_p.D550N|MAD1L1_uc010ksi.1_Missense_Mutation_p.D595N|MAD1L1_uc010ksj.2_Missense_Mutation_p.D642N|MAD1L1_uc003sld.1_Missense_Mutation_p.D98N	p.D642N	NM_001013836	NP_001013858	Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	18	2190	-		Ovarian(82;0.0272)	642					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	c.1924G>A	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	C	36	5.939199	0.97128	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000442131;ENST00000265854;ENST00000450235;ENST00000437877	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.58807	0.2148	M	0.83774	2.66	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.66497	0.944;0.909;0.944	T	0.61505	-0.7049	10	0.51188	T	0.08	-49.6874	17.7612	0.88465	0.0:1.0:0.0:0.0	.	641;550;642	A4D218;B3KR41;Q9Y6D9	.;.;MD1L1_HUMAN	N	550;642;642;193;642;193;98	ENSP00000384155:D550N;ENSP00000382562:D642N;ENSP00000385334:D642N;ENSP00000265854:D642N;ENSP00000394886:D193N;ENSP00000394069:D98N	ENSP00000265854:D642N	D	-	1	0	MAD1L1	1904436	1.000000	0.71417	0.882000	0.34594	0.994000	0.84299	5.557000	0.67313	2.623000	0.88846	0.655000	0.94253	GAC		0.612	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		18	38	0	0	0	0	18	38				
THSD7A	221981	broad.mit.edu	37	7	11486919	11486919	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:11486919G>T	ENST00000423059.4	-	12	2989	c.2738C>A	c.(2737-2739)tCc>tAc	p.S913Y	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	913	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AGAAAACTTGGACCAGCTGGT	0.522										HNSCC(18;0.044)																												uc003ssf.3		NA																	0				ovary(3)	3						c.(2737-2739)TCC>TAC		thrombospondin, type I, domain containing 7A							74.0	70.0	71.0					7																	11486919		1934	4139	6073	SO:0001583	missense	221981					integral to membrane		g.chr7:11486919G>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2738C>A	7.37:g.11486919G>T	ENSP00000406482:p.Ser913Tyr	HNSCC(18;0.044)					p.S913Y	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	12	2990	-			913			TSP type-1 9.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.2738C>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040898	0.93685	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.65916	-0.18	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.80215	0.4582	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78874	-0.2032	10	0.45353	T	0.12	.	19.9054	0.97006	0.0:0.0:1.0:0.0	.	913	Q9UPZ6	THS7A_HUMAN	Y	913	ENSP00000406482:S913Y	ENSP00000262042:S913Y	S	-	2	0	THSD7A	11453444	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.698000	0.92095	0.655000	0.94253	TCC		0.522	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		12	27	1	0	7.04e-09	1.13e-08	12	27				
THSD7A	221981	broad.mit.edu	37	7	11676130	11676130	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:11676130G>T	ENST00000423059.4	-	2	900	c.649C>A	c.(649-651)Cgg>Agg	p.R217R	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	217	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R217R(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGACGCGTCCGGTGCTGGAGC	0.617										HNSCC(18;0.044)																												uc003ssf.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(649-651)CGG>AGG		thrombospondin, type I, domain containing 7A							31.0	32.0	31.0					7																	11676130		1992	4171	6163	SO:0001819	synonymous_variant	221981					integral to membrane		g.chr7:11676130G>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.649C>A	7.37:g.11676130G>T		HNSCC(18;0.044)					p.R217R	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	901	-			217			Extracellular (Potential).|TSP type-1 2.			Silent	SNP	ENST00000423059.4	37	c.649C>A	CCDS47543.1																																																																																				0.617	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		5	30	1	0	1.24e-05	1.82e-05	5	30				
CREB5	9586	broad.mit.edu	37	7	28844011	28844011	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:28844011C>T	ENST00000357727.2	+	8	1288	c.898C>T	c.(898-900)Cat>Tat	p.H300Y	CREB5_ENST00000396298.2_Missense_Mutation_p.H161Y|CREB5_ENST00000409603.1_Missense_Mutation_p.H267Y|CREB5_ENST00000396300.2_Missense_Mutation_p.H293Y|CREB5_ENST00000396299.2_Missense_Mutation_p.H267Y	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	300					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						cccagcacaccatcctcaccc	0.602																																						uc003szq.2		NA																	0				skin(2)	2						c.(898-900)CAT>TAT		cAMP responsive element binding protein 5							632.0	362.0	454.0					7																	28844011		2203	4300	6503	SO:0001583	missense	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28844011C>T	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.898C>T	7.37:g.28844011C>T	ENSP00000350359:p.His300Tyr					CREB5_uc003szo.2_Missense_Mutation_p.H267Y|CREB5_uc003szr.2_Missense_Mutation_p.H293Y|CREB5_uc003szs.2_Missense_Mutation_p.H161Y	p.H300Y	NM_182898	NP_878901	Q02930	CREB5_HUMAN			8	1288	+			300					A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	ENST00000357727.2	37	c.898C>T	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027269	0.54683	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000426500;ENST00000396298	T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03	5.62	5.62	0.85841	.	0.306226	0.36034	N	0.002830	T	0.53818	0.1820	L	0.29908	0.895	0.58432	D	0.999999	B;B	0.22604	0.027;0.072	B;B	0.23018	0.02;0.043	T	0.45425	-0.9262	10	0.31617	T	0.26	-13.0609	19.3214	0.94243	0.0:1.0:0.0:0.0	.	161;300	B4DU13;Q02930	.;CREB5_HUMAN	Y	267;300;293;267;126;161	ENSP00000379593:H267Y;ENSP00000350359:H300Y;ENSP00000379594:H293Y;ENSP00000387197:H267Y;ENSP00000379592:H161Y	ENSP00000350359:H300Y	H	+	1	0	CREB5	28810536	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.435000	0.80391	2.680000	0.91292	0.579000	0.79373	CAT		0.602	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		22	22	0	0	0	0	22	22				
KIAA0895	23366	broad.mit.edu	37	7	36397151	36397151	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:36397151T>C	ENST00000297063.6	-	3	277	c.227A>G	c.(226-228)aAt>aGt	p.N76S	KIAA0895_ENST00000436884.1_5'UTR|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000440378.1_Missense_Mutation_p.N25S|KIAA0895_ENST00000317020.6_Missense_Mutation_p.N25S|KIAA0895_ENST00000338533.5_Missense_Mutation_p.N63S|KIAA0895_ENST00000415803.2_Missense_Mutation_p.N63S|KIAA0895_ENST00000480192.1_Intron	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	76										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						ATCTTCTGCATTTAGAATAGA	0.343																																						uc003tfd.2		NA																	0					0						c.(226-228)AAT>AGT		hypothetical protein LOC23366 isoform 1							94.0	84.0	87.0					7																	36397151		1847	4094	5941	SO:0001583	missense	23366							g.chr7:36397151T>C	BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.227A>G	7.37:g.36397151T>C	ENSP00000297063:p.Asn76Ser					KIAA0895_uc003tfc.2_Missense_Mutation_p.N63S|KIAA0895_uc011kaw.1_5'UTR|KIAA0895_uc003tfb.2_Missense_Mutation_p.N25S|KIAA0895_uc011kax.1_Missense_Mutation_p.N25S|KIAA0895_uc003tfe.2_Missense_Mutation_p.N63S|KIAA0895_uc011kay.1_Missense_Mutation_p.N25S	p.N76S	NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN			3	278	-			76					B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	ENST00000297063.6	37	c.227A>G	CCDS43570.1	.	.	.	.	.	.	.	.	.	.	T	9.788	1.177118	0.21787	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000415803	.	.	.	5.78	-1.29	0.09288	.	0.397128	0.31884	N	0.006909	T	0.29158	0.0725	N	0.25647	0.755	0.30882	N	0.731355	B;B;B;B;B;B	0.21753	0.003;0.002;0.06;0.002;0.003;0.001	B;B;B;B;B;B	0.18871	0.003;0.004;0.023;0.003;0.003;0.004	T	0.21280	-1.0250	9	0.25751	T	0.34	-1.0752	11.1424	0.48411	0.0:0.4678:0.0:0.5322	.	25;25;63;76;63;25	B4DGN6;B7ZLT4;Q8NCT3-4;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;.;K0895_HUMAN;.;.	S	76;63;25;25;63	.	ENSP00000297063:N76S	N	-	2	0	KIAA0895	36363676	0.974000	0.33945	0.976000	0.42696	0.978000	0.69477	0.422000	0.21296	-0.108000	0.12066	0.460000	0.39030	AAT		0.343	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	NM_015314		9	23	0	0	0	0	9	23				
ELMO1	9844	broad.mit.edu	37	7	36895281	36895281	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:36895281C>A	ENST00000310758.4	-	22	2706	c.2059G>T	c.(2059-2061)Gac>Tac	p.D687Y	ELMO1_ENST00000442504.1_Missense_Mutation_p.D687Y|ELMO1_ENST00000396045.3_Missense_Mutation_p.D207Y|ELMO1_ENST00000341056.3_Missense_Mutation_p.D389Y|ELMO1_ENST00000396040.2_Missense_Mutation_p.D207Y|ELMO1_ENST00000448602.1_Missense_Mutation_p.D687Y	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	687					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						AGCAGGGTGTCCAGGTCATTC	0.577																																						uc003tfk.1		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(2059-2061)GAC>TAC		engulfment and cell motility 1 isoform 1							176.0	152.0	160.0					7																	36895281		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:36895281C>A	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.2059G>T	7.37:g.36895281C>A	ENSP00000312185:p.Asp687Tyr					ELMO1_uc003tfi.1_Missense_Mutation_p.D207Y|ELMO1_uc003tfj.1_Missense_Mutation_p.D207Y|ELMO1_uc011kbb.1_RNA|ELMO1_uc011kbc.1_Missense_Mutation_p.D591Y|ELMO1_uc010kxg.1_Missense_Mutation_p.D687Y	p.D687Y	NM_014800	NP_055615	Q92556	ELMO1_HUMAN			22	2366	-			687					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.2059G>T	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198501	0.79015	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	4.77	3.87	0.44632	.	0.119010	0.53938	D	0.000041	T	0.65964	0.2742	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.71048	-0.4705	10	0.87932	D	0	.	14.7168	0.69275	0.1461:0.8539:0.0:0.0	.	687	Q92556	ELMO1_HUMAN	Y	389;207;687;591;207;687;687	ENSP00000342142:D389Y;ENSP00000379360:D207Y;ENSP00000312185:D687Y;ENSP00000379355:D207Y;ENSP00000406952:D687Y;ENSP00000394458:D687Y	ENSP00000312185:D687Y	D	-	1	0	ELMO1	36861806	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.651000	0.83577	1.337000	0.45525	0.650000	0.86243	GAC		0.577	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		39	99	1	0	2.59e-14	4.55e-14	39	99				
PKD1L1	168507	broad.mit.edu	37	7	47898472	47898472	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:47898472C>G	ENST00000289672.2	-	27	4211	c.4161G>C	c.(4159-4161)atG>atC	p.M1387I		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1387	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GAACCGCACTCATAAAGCCTA	0.498																																						uc003tny.1		NA																	0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(4159-4161)ATG>ATC		polycystin-1L1							53.0	49.0	50.0					7																	47898472		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47898472C>G	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4161G>C	7.37:g.47898472C>G	ENSP00000289672:p.Met1387Ile						p.M1387I	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			27	4161	-			1387			Extracellular (Potential).|REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.4161G>C	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339291	0.24339	.	.	ENSG00000158683	ENST00000289672	T	0.18810	2.19	4.15	-4.11	0.03928	Egg jelly receptor, REJ-like (1);	2.918730	0.00987	N	0.003472	T	0.12135	0.0295	N	0.22421	0.69	0.09310	N	1	B	0.15141	0.012	B	0.13407	0.009	T	0.20306	-1.0279	10	0.36615	T	0.2	1.6793	1.8063	0.03082	0.356:0.2286:0.307:0.1083	.	1387	Q8TDX9	PK1L1_HUMAN	I	1387	ENSP00000289672:M1387I	ENSP00000289672:M1387I	M	-	3	0	PKD1L1	47864997	0.000000	0.05858	0.000000	0.03702	0.253000	0.25986	-0.439000	0.06897	-0.297000	0.08934	0.289000	0.19496	ATG		0.498	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		9	26	0	0	0	0	9	26				
FIGNL1	63979	broad.mit.edu	37	7	50514817	50514817	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:50514817T>A	ENST00000419119.1	-	2	1722	c.169A>T	c.(169-171)Aaa>Taa	p.K57*	FIGNL1_ENST00000435566.1_Intron|FIGNL1_ENST00000356889.4_Nonsense_Mutation_p.K57*|FIGNL1_ENST00000395556.2_Nonsense_Mutation_p.K57*|FIGNL1_ENST00000433017.1_Nonsense_Mutation_p.K57*			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	57					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TTGAACAGTTTGGTAGCACAG	0.393																																						uc003tpc.2		NA																	0				ovary(3)	3						c.(169-171)AAA>TAA		fidgetin-like 1							72.0	69.0	70.0					7																	50514817		2203	4300	6503	SO:0001587	stop_gained	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50514817T>A	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.169A>T	7.37:g.50514817T>A	ENSP00000410811:p.Lys57*					FIGNL1_uc003tpb.2_Intron|FIGNL1_uc003tpd.2_Nonsense_Mutation_p.K57*|FIGNL1_uc003tpe.2_Nonsense_Mutation_p.K57*|FIGNL1_uc010kyy.2_Nonsense_Mutation_p.K57*	p.K57*	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN			4	546	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	57					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Nonsense_Mutation	SNP	ENST00000419119.1	37	c.169A>T	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	T	41	8.838017	0.98972	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119;ENST00000436590;ENST00000422854;ENST00000440350	.	.	.	5.1	3.94	0.45596	.	0.639881	0.16118	N	0.228784	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.7638	7.1662	0.25691	0.0:0.0752:0.1462:0.7786	.	.	.	.	X	57	.	ENSP00000349356:K57X	K	-	1	0	FIGNL1	50482311	0.973000	0.33851	0.537000	0.28052	0.998000	0.95712	1.588000	0.36633	0.880000	0.35969	0.460000	0.39030	AAA		0.393	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		15	42	0	0	0	0	15	42				
WBSCR17	64409	broad.mit.edu	37	7	70853353	70853353	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:70853353G>A	ENST00000333538.5	+	3	1189	c.555G>A	c.(553-555)aaG>aaA	p.K185K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	185	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ACCTGCTGAAGGAAATCATTC	0.542																																						uc003tvy.2		NA																	0				skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(553-555)AAG>AAA		UDP-GalNAc:polypeptide							131.0	97.0	108.0					7																	70853353		2203	4300	6503	SO:0001819	synonymous_variant	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70853353G>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.555G>A	7.37:g.70853353G>A						WBSCR17_uc003tvz.2_5'UTR	p.K185K	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			3	555	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	185			Catalytic subdomain A.|Lumenal (Potential).		Q8NFV9|Q9NTA8	Silent	SNP	ENST00000333538.5	37	c.555G>A	CCDS5540.1																																																																																				0.542	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		17	27	0	0	0	0	17	27				
LAT2	7462	broad.mit.edu	37	7	73638999	73638999	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:73638999C>T	ENST00000460943.1	+	13	1548	c.659C>T	c.(658-660)cCg>cTg	p.P220L	LAT2_ENST00000344995.5_Missense_Mutation_p.P220L|LAT2_ENST00000275635.7_Missense_Mutation_p.P220L|LAT2_ENST00000398475.1_Missense_Mutation_p.P220L	NM_032464.2	NP_115853.2	Q9UHI5	LAT2_HUMAN	linker for activation of T cells family, member 2	0					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6					L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	TCCCCTGGCCCGGTGGGAAGC	0.612																																						uc003uag.2		NA																	0					0						c.(658-660)CCG>CTG		linker for activation of T cells family member							21.0	24.0	23.0					7																	73638999		1973	4160	6133	SO:0001583	missense	7462				B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding	g.chr7:73638999C>T	AF257135	CCDS5566.2	7q11.23	2011-11-01	2005-04-26	2005-04-26	ENSG00000086730	ENSG00000086730			12749	protein-coding gene	gene with protein product	"""linker for activation of B cells"", ""non-T cell activation linker"", ""linker for activation of T cells, transmembrane adaptor 2"""	605719	"""Williams-Beuren syndrome chromosome region 5"""	WBSCR15, WBSCR5		8812460, 12514734	Standard	NM_032464		Approved	WSCR5, HSPC046, LAB, NTAL	uc003uai.3	Q9GZY6	OTTHUMG00000130151	ENST00000460943.1:c.659C>T	7.37:g.73638999C>T	ENSP00000420494:p.Pro220Leu					RFC2_uc011kfa.1_Intron|LAT2_uc003uah.2_Missense_Mutation_p.P220L|LAT2_uc003uai.2_Missense_Mutation_p.P220L|LAT2_uc010lbo.2_RNA	p.P220L	NM_032464	NP_115853	Q9GZY6	NTAL_HUMAN			13	1209	+			220			Cytoplasmic (Potential).		B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000460943.1	37	c.659C>T	CCDS5566.2	.	.	.	.	.	.	.	.	.	.	C	0.032	-1.329697	0.01298	.	.	ENSG00000086730	ENST00000344995;ENST00000460943;ENST00000398475;ENST00000275635	T;T;T;T	0.03920	3.76;3.76;3.76;3.76	3.27	-2.66	0.06077	.	1.892800	0.03014	N	0.149776	T	0.01730	0.0055	N	0.02539	-0.55	0.09310	N	1	B	0.16802	0.019	B	0.11329	0.006	T	0.38001	-0.9681	10	0.02654	T	1	-1.4598	4.1129	0.10067	0.0:0.3105:0.3357:0.3538	.	220	Q9GZY6	NTAL_HUMAN	L	220	ENSP00000344881:P220L;ENSP00000420494:P220L;ENSP00000381492:P220L;ENSP00000275635:P220L	ENSP00000275635:P220L	P	+	2	0	LAT2	73276935	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-3.548000	0.00434	-0.613000	0.05694	0.430000	0.28490	CCG		0.612	LAT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277062.1			6	6	0	0	0	0	6	6				
SEMA3C	10512	broad.mit.edu	37	7	80394488	80394488	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:80394488C>G	ENST00000265361.3	-	13	1987	c.1426G>C	c.(1426-1428)Gag>Cag	p.E476Q	SEMA3C_ENST00000544525.1_Missense_Mutation_p.E494Q|SEMA3C_ENST00000419255.2_Missense_Mutation_p.E476Q	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	476	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACTTCCAGCTCCTCCAGAATG	0.388																																						uc003uhj.2		NA																	0				ovary(1)	1						c.(1426-1428)GAG>CAG		semaphorin 3C precursor							76.0	76.0	76.0					7																	80394488		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80394488C>G	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1426G>C	7.37:g.80394488C>G	ENSP00000265361:p.Glu476Gln					SEMA3C_uc011kgw.1_Missense_Mutation_p.E494Q	p.E476Q	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			13	1988	-			476			Sema.		B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.1426G>C	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905497	0.92107	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.30981	1.51;1.51;1.51	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.64238	0.2580	M	0.88450	2.955	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70935	0.951;0.971	T	0.69113	-0.5231	10	0.66056	D	0.02	.	20.0973	0.97856	0.0:1.0:0.0:0.0	.	494;476	F5H1Z7;Q99985	.;SEM3C_HUMAN	Q	476;476;494	ENSP00000265361:E476Q;ENSP00000411193:E476Q;ENSP00000445649:E494Q	ENSP00000265361:E476Q	E	-	1	0	SEMA3C	80232424	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.752000	0.85141	2.830000	0.97506	0.585000	0.79938	GAG		0.388	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		23	49	0	0	0	0	23	49				
HGF	3082	broad.mit.edu	37	7	81388078	81388078	+	Missense_Mutation	SNP	G	G	T	rs368633795		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:81388078G>T	ENST00000222390.5	-	3	523	c.297C>A	c.(295-297)ttC>ttA	p.F99L	HGF_ENST00000423064.2_Missense_Mutation_p.F99L|HGF_ENST00000444829.2_Missense_Mutation_p.F99L|HGF_ENST00000453411.1_Missense_Mutation_p.F99L|HGF_ENST00000354224.6_Missense_Mutation_p.F99L|HGF_ENST00000457544.2_Missense_Mutation_p.F99L|HGF_ENST00000453018.1_5'UTR	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	99	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TATTGAAGGGGAACCAGAGGC	0.318																																						uc003uhl.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(295-297)TTC>TTA		hepatocyte growth factor isoform 1							102.0	101.0	101.0					7																	81388078		2203	4299	6502	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81388078G>T		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.297C>A	7.37:g.81388078G>T	ENSP00000222390:p.Phe99Leu					HGF_uc003uhm.2_Missense_Mutation_p.F99L|HGF_uc003uhn.1_Missense_Mutation_p.F99L|HGF_uc003uho.1_Missense_Mutation_p.F99L|HGF_uc003uhp.2_Missense_Mutation_p.F99L	p.F99L	NM_000601	NP_000592	P14210	HGF_HUMAN			3	462	-			99			PAN.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.297C>A	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	G	3.009	-0.204346	0.06180	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064;ENST00000354224;ENST00000412881;ENST00000421558	D;D;D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	5.33	0.0699	0.14376	PAN-1 domain (1);Apple-like (2);	0.281225	0.41001	N	0.000975	T	0.68997	0.3062	N	0.13043	0.29	0.31153	N	0.705226	B;B;B;B;B	0.13594	0.006;0.0;0.0;0.008;0.005	B;B;B;B;B	0.12837	0.005;0.002;0.002;0.005;0.008	T	0.57636	-0.7777	10	0.02654	T	1	.	1.5783	0.02629	0.2965:0.2111:0.3736:0.1188	.	134;99;99;99;99	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	L	99	ENSP00000222390:F99L;ENSP00000391238:F99L;ENSP00000389854:F99L;ENSP00000408270:F99L;ENSP00000413829:F99L;ENSP00000346164:F99L;ENSP00000396307:F99L;ENSP00000388592:F99L	ENSP00000222390:F99L	F	-	3	2	HGF	81226014	0.996000	0.38824	0.989000	0.46669	0.940000	0.58332	0.122000	0.15687	-0.304000	0.08843	-0.964000	0.02622	TTC		0.318	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		36	59	1	0	6.53e-18	1.19e-17	36	59				
GRM3	2913	broad.mit.edu	37	7	86394734	86394734	+	Missense_Mutation	SNP	G	G	C	rs150518450		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:86394734G>C	ENST00000361669.2	+	2	1372	c.273G>C	c.(271-273)ttG>ttC	p.L91F	GRM3_ENST00000536043.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.L89F|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.L91F	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	91					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.L91F(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GAGTGAAGTTGGGTGTTCACA	0.433																																					GBM(52;969 1098 3139 52280)	uc003uid.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(271-273)TTG>TTC		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						206.0	185.0	192.0					7																	86394734		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86394734G>C		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.273G>C	7.37:g.86394734G>C	ENSP00000355316:p.Leu91Phe					GRM3_uc010lef.2_Missense_Mutation_p.L89F|GRM3_uc010leg.2_Intron|GRM3_uc010leh.2_Intron	p.L91F	NM_000840	NP_000831	Q14832	GRM3_HUMAN			2	1372	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		91			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.273G>C	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192648	0.58017	.	.	ENSG00000198822	ENST00000361669;ENST00000439827;ENST00000394720	D;D;D	0.88201	-2.35;-2.35;-2.35	5.24	3.28	0.37604	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000001	D	0.93996	0.8077	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.92495	0.6003	10	0.87932	D	0	.	3.094	0.06303	0.2783:0.0:0.5083:0.2134	.	91;91	G5E9K2;Q14832	.;GRM3_HUMAN	F	91;91;89	ENSP00000355316:L91F;ENSP00000398767:L91F;ENSP00000378209:L89F	ENSP00000355316:L91F	L	+	3	2	GRM3	86232670	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.308000	0.19314	1.441000	0.47550	0.655000	0.94253	TTG		0.433	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			31	126	0	0	0	0	31	126				
GRM3	2913	broad.mit.edu	37	7	86415633	86415633	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:86415633C>A	ENST00000361669.2	+	3	1624	c.525C>A	c.(523-525)agC>agA	p.S175R	GRM3_ENST00000536043.1_Missense_Mutation_p.S47R|GRM3_ENST00000394720.2_Missense_Mutation_p.S173R|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.S175R|AC005009.2_ENST00000418031.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	175					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.S175S(1)|p.S175R(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CATCCACCAGCGCCAAACTCA	0.552																																					GBM(52;969 1098 3139 52280)	uc003uid.2		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(523-525)AGC>AGA		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						142.0	143.0	142.0					7																	86415633		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415633C>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.525C>A	7.37:g.86415633C>A	ENSP00000355316:p.Ser175Arg					GRM3_uc010lef.2_Missense_Mutation_p.S173R|GRM3_uc010leg.2_Missense_Mutation_p.S47R|GRM3_uc010leh.2_Intron	p.S175R	NM_000840	NP_000831	Q14832	GRM3_HUMAN			3	1624	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		175			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.525C>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.431123	0.62844	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4	5.83	-0.839	0.10759	GPCR, family 3, conserved site (1);Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94640	0.8272	M	0.94101	3.495	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;1.0	D	0.93504	0.6847	10	0.87932	D	0	.	10.6477	0.45630	0.0:0.4129:0.0:0.5871	.	47;175;175	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	R	175;47;47;175;173	ENSP00000355316:S175R;ENSP00000405427:S47R;ENSP00000441407:S47R;ENSP00000398767:S175R;ENSP00000378209:S173R	ENSP00000355316:S175R	S	+	3	2	GRM3	86253569	0.274000	0.24191	0.996000	0.52242	0.993000	0.82548	-0.326000	0.07965	-0.079000	0.12707	-0.126000	0.14955	AGC		0.552	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			59	132	1	0	2.3e-20	4.21e-20	59	132				
AKAP9	10142	broad.mit.edu	37	7	91631454	91631454	+	Silent	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:91631454T>G	ENST00000359028.2	+	9	2484	c.2259T>G	c.(2257-2259)ctT>ctG	p.L753L	AKAP9_ENST00000358100.2_Silent_p.L753L|AKAP9_ENST00000356239.3_Silent_p.L741L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	753	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGGGTACACTTGAACAAGAAG	0.294			T	BRAF	papillary thyroid																																	uc003ulg.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(2221-2223)CTT>CTG		A-kinase anchor protein 9 isoform 2							31.0	34.0	33.0					7																	91631454		2161	4264	6425	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91631454T>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.2259T>G	7.37:g.91631454T>G						AKAP9_uc003ule.2_Silent_p.L753L|AKAP9_uc003ulf.2_Silent_p.L741L|AKAP9_uc003uli.2_Silent_p.L366L	p.L741L	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		8	2448	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		753			Glu-rich.|Potential.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.2223T>G																																																																																					0.294	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		10	53	0	0	0	0	10	53				
DYNC1I1	1780	broad.mit.edu	37	7	95668588	95668588	+	Splice_Site	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:95668588G>T	ENST00000324972.6	+	14	1608		c.e14-1		DYNC1I1_ENST00000447467.2_Splice_Site|DYNC1I1_ENST00000437599.1_Splice_Site|DYNC1I1_ENST00000537881.1_Splice_Site|DYNC1I1_ENST00000457059.1_Splice_Site|DYNC1I1_ENST00000497626.1_Splice_Site|DYNC1I1_ENST00000359388.4_Splice_Site	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TCTTCCTACAGCAAAGCAGGT	0.448																																						uc003uoc.3		NA																	0				ovary(3)|kidney(1)	4						c.e14-1		dynein, cytoplasmic 1, intermediate chain 1							152.0	153.0	152.0					7																	95668588		2203	4300	6503	SO:0001630	splice_region_variant	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95668588G>T	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1416-1G>T	7.37:g.95668588G>T						DYNC1I1_uc003uod.3_Splice_Site_p.S455_splice|DYNC1I1_uc003uob.2_Splice_Site_p.S435_splice|DYNC1I1_uc003uoe.3_Splice_Site_p.S452_splice|DYNC1I1_uc010lfl.2_Splice_Site_p.S461_splice	p.S472_splice	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		14	1693	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)							B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Splice_Site	SNP	ENST00000324972.6	37	c.1416_splice	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477653	0.44044	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	.	.	.	4.94	4.05	0.47172	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1315	0.72527	0.0:0.0:0.8576:0.1423	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC1I1	95506524	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	9.657000	0.98554	1.449000	0.47699	0.557000	0.71058	.		0.448	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411	Intron	33	161	1	0	2.5e-28	4.72e-28	33	161				
MUC17	140453	broad.mit.edu	37	7	100677500	100677500	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:100677500C>A	ENST00000306151.4	+	3	2867	c.2803C>A	c.(2803-2805)Ccg>Acg	p.P935T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	935	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACCACGCCGGTAGTCAG	0.517																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(2803-2805)CCG>ACG		mucin 17 precursor							380.0	327.0	345.0					7																	100677500		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677500C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2803C>A	7.37:g.100677500C>A	ENSP00000302716:p.Pro935Thr					MUC17_uc010lho.1_RNA	p.P935T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	2856	+	Lung NSC(181;0.136)|all_lung(186;0.182)		935			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|13.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2803C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	2.052	-0.417466	0.04766	.	.	ENSG00000169876	ENST00000306151	T	0.03212	4.01	1.19	0.0432	0.14221	.	.	.	.	.	T	0.02083	0.0065	N	0.19112	0.55	0.09310	N	1	B	0.17667	0.023	B	0.11329	0.006	T	0.48410	-0.9038	9	0.06365	T	0.9	.	6.2846	0.21027	0.3235:0.6764:0.0:0.0	.	935	Q685J3	MUC17_HUMAN	T	935	ENSP00000302716:P935T	ENSP00000302716:P935T	P	+	1	0	MUC17	100464220	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.867000	0.04241	0.021000	0.15133	0.134000	0.15878	CCG		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		130	553	1	0	1.03e-33	1.96e-33	130	553				
RELN	5649	broad.mit.edu	37	7	103130227	103130227	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:103130227G>T	ENST00000428762.1	-	60	9884	c.9725C>A	c.(9724-9726)aCg>aAg	p.T3242K	RELN_ENST00000424685.2_Missense_Mutation_p.T3242K|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.T3242K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3242	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGCACCGGTCGTGCAGTATCC	0.532																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(9724-9726)ACG>AAG		reelin isoform a							90.0	68.0	75.0					7																	103130227		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103130227G>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9725C>A	7.37:g.103130227G>T	ENSP00000392423:p.Thr3242Lys					RELN_uc010liz.2_Missense_Mutation_p.T3242K	p.T3242K	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	60	9885	-			3242			EGF-like 8.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.9725C>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765794	0.90020	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.21361	2.01;2.01;2.01	5.81	5.81	0.92471	EGF, extracellular (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.052781	0.85682	D	0.000000	T	0.29190	0.0726	L	0.38838	1.175	0.80722	D	1	P;B	0.34780	0.468;0.338	B;B	0.43701	0.428;0.178	T	0.01762	-1.1279	10	0.52906	T	0.07	.	20.0795	0.97766	0.0:0.0:1.0:0.0	.	3242;3242	P78509-2;P78509	.;RELN_HUMAN	K	3242;3242;3242;759;3242	ENSP00000392423:T3242K;ENSP00000345694:T3242K;ENSP00000388446:T3242K	ENSP00000345694:T3242K	T	-	2	0	RELN	102917463	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	9.209000	0.95087	2.747000	0.94245	0.650000	0.86243	ACG		0.532	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		10	36	1	0	7.48e-07	1.14e-06	10	36				
RINT1	60561	broad.mit.edu	37	7	105177012	105177012	+	Splice_Site	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:105177012G>A	ENST00000257700.2	+	3	320	c.89G>A	c.(88-90)aGt>aAt	p.S30N		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	30					G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTTGTTGTAGGTGACATAAAT	0.318																																						uc003vda.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(88-90)AGT>AAT		RAD50 interactor 1							170.0	174.0	172.0					7																	105177012		2203	4300	6503	SO:0001630	splice_region_variant	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105177012G>A	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.89-1G>A	7.37:g.105177012G>A						RINT1_uc010ljj.1_Translation_Start_Site	p.S30N	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN			3	320	+			30					Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	c.89G>A	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	G	9.672	1.146889	0.21288	.	.	ENSG00000135249	ENST00000257700	T	0.26660	1.72	5.33	4.45	0.53987	.	0.485095	0.20805	N	0.085352	T	0.18964	0.0455	L	0.47716	1.5	0.25561	N	0.986994	B	0.29432	0.244	B	0.21917	0.037	T	0.15292	-1.0442	9	.	.	.	.	6.3413	0.21324	0.1566:0.0:0.694:0.1494	.	30	Q6NUQ1	RINT1_HUMAN	N	30	ENSP00000257700:S30N	.	S	+	2	0	RINT1	104964248	1.000000	0.71417	0.997000	0.53966	0.015000	0.08874	2.514000	0.45503	1.245000	0.43885	-0.229000	0.12294	AGT		0.318	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930	Missense_Mutation	43	52	0	0	0	0	43	52				
PIK3CG	5294	broad.mit.edu	37	7	106508711	106508711	+	Silent	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:106508711C>G	ENST00000359195.3	+	2	1015	c.705C>G	c.(703-705)gtC>gtG	p.V235V	PIK3CG_ENST00000440650.2_Silent_p.V235V|PIK3CG_ENST00000496166.1_Silent_p.V235V	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	235	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCATTAAGGTCTCACCCGACG	0.547																																						uc003vdv.3		NA																	0				lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(703-705)GTC>GTG		phosphoinositide-3-kinase, catalytic, gamma							99.0	104.0	103.0					7																	106508711		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508711C>G		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.705C>G	7.37:g.106508711C>G						PIK3CG_uc003vdu.2_Silent_p.V235V|PIK3CG_uc003vdw.2_Silent_p.V235V	p.V235V	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	790	+			235					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.705C>G	CCDS5739.1																																																																																				0.547	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			35	84	0	0	0	0	35	84				
LAMB1	3912	broad.mit.edu	37	7	107599899	107599899	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:107599899C>A	ENST00000222399.6	-	20	2715	c.2485G>T	c.(2485-2487)Gtc>Ttc	p.V829F	LAMB1_ENST00000393561.1_Missense_Mutation_p.V853F	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	829	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AAGGCATTGACAGATCCTTGC	0.507																																						uc003vew.2		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8						c.(2485-2487)GTC>TTC		laminin, beta 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						63.0	51.0	55.0					7																	107599899		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107599899C>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.2485G>T	7.37:g.107599899C>A	ENSP00000222399:p.Val829Phe					LAMB1_uc003vev.2_Missense_Mutation_p.V853F	p.V829F	NM_002291	NP_002282	P07942	LAMB1_HUMAN			20	2820	-			829			Laminin EGF-like 7.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.2485G>T	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530490	0.27387	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.55760	0.5;0.5	5.55	1.55	0.23275	EGF-like, laminin (3);	.	.	.	.	T	0.38585	0.1046	L	0.51853	1.615	0.09310	N	1	B;P	0.34462	0.006;0.454	B;B	0.35353	0.034;0.201	T	0.19614	-1.0300	9	0.13470	T	0.59	.	2.7357	0.05239	0.205:0.4516:0.2056:0.1377	.	829;853	P07942;G3XAI2	LAMB1_HUMAN;.	F	853;829	ENSP00000377191:V853F;ENSP00000222399:V829F	ENSP00000222399:V829F	V	-	1	0	LAMB1	107387135	0.000000	0.05858	0.723000	0.30687	0.982000	0.71751	-0.682000	0.05185	0.413000	0.25759	-0.176000	0.13171	GTC		0.507	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		17	59	1	0	1.68e-08	2.68e-08	17	59				
RNF148	378925	broad.mit.edu	37	7	122342350	122342350	+	Missense_Mutation	SNP	G	G	A	rs201395313		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:122342350G>A	ENST00000434824.1	-	1	671	c.455C>T	c.(454-456)gCg>gTg	p.A152V	RNF148_ENST00000447240.1_Missense_Mutation_p.A54V|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	152	PA.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						TATCATCACCGCGACTATATT	0.463													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21885	0.0		0.0	False		,,,				2504	0.0					uc003vkk.1		NA																	0					0						c.(454-456)GCG>GTG		ring finger protein 148 precursor		G	,,,VAL/ALA	2,4034		0,2,2016	270.0	266.0	268.0		,,,455	4.1	0.9	7		268	0,8328		0,0,4164	yes	intron,intron,intron,missense	CADPS2,RNF148	NM_001009571.3,NM_001167940.1,NM_017954.10,NM_198085.1	,,,64	0,2,6180	AA,AG,GG		0.0,0.0496,0.0162	,,,possibly-damaging	,,,152/306	122342350	2,12362	2018	4164	6182	SO:0001583	missense	378925					integral to membrane	zinc ion binding	g.chr7:122342350G>A	BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"""RING-type (C3HC4) zinc fingers"""	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.455C>T	7.37:g.122342350G>A	ENSP00000388207:p.Ala152Val					CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF148_uc010lkr.1_Missense_Mutation_p.A54V	p.A152V	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN			1	672	-			152			PA.		A4D0X4|Q8N308	Missense_Mutation	SNP	ENST00000434824.1	37	c.455C>T	CCDS47692.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.93	2.681072	0.47886	4.96E-4	0.0	ENSG00000235631	ENST00000434824;ENST00000447240	T	0.05139	3.49	4.95	4.05	0.47172	Protease-associated domain, PA (1);	.	.	.	.	T	0.07999	0.0200	N	0.21324	0.655	0.80722	D	1	D;D	0.67145	0.996;0.988	P;P	0.54460	0.753;0.482	T	0.26430	-1.0103	9	0.35671	T	0.21	.	8.0326	0.30474	0.0888:0.1629:0.7483:0.0	.	54;152	C9JVJ0;Q8N7C7	.;RN148_HUMAN	V	152;54	ENSP00000388207:A152V	ENSP00000388207:A152V	A	-	2	0	RNF148	122129586	0.998000	0.40836	0.850000	0.33497	0.869000	0.49853	4.370000	0.59517	2.446000	0.82766	0.555000	0.69702	GCG		0.463	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	NM_198085		117	264	0	0	0	0	117	264				
PLXNA4	91584	broad.mit.edu	37	7	131866875	131866875	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:131866875C>T	ENST00000359827.3	-	17	4195	c.3233G>A	c.(3232-3234)gGa>gAa	p.G1078E	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G1078E			Q9HCM2	PLXA4_HUMAN	plexin A4	1078	IPT/TIG 3.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTCCTTCCCTCCATGCTTGGC	0.557																																						uc003vra.3		NA																	0				ovary(1)	1						c.(3232-3234)GGA>GAA		plexin A4 isoform 1							125.0	132.0	129.0					7																	131866875		2016	4178	6194	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131866875C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3233G>A	7.37:g.131866875C>T	ENSP00000352882:p.Gly1078Glu						p.G1078E	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			17	3462	-			1078			Extracellular (Potential).|IPT/TIG 3.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.3233G>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016166	0.35606	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	D;D	0.83755	-1.76;-1.76	5.43	5.43	0.79202	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.161948	0.56097	D	0.000032	T	0.78336	0.4267	L	0.54323	1.7	0.43054	D	0.994663	B	0.27068	0.167	B	0.24974	0.057	T	0.74134	-0.3763	10	0.02654	T	1	.	19.2569	0.93949	0.0:1.0:0.0:0.0	.	1078	Q9HCM2	PLXA4_HUMAN	E	1078	ENSP00000323194:G1078E;ENSP00000352882:G1078E	ENSP00000323194:G1078E	G	-	2	0	PLXNA4	131517415	0.003000	0.15002	0.962000	0.40283	0.993000	0.82548	1.330000	0.33781	2.561000	0.86390	0.561000	0.74099	GGA		0.557	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		24	37	0	0	0	0	24	37				
DGKI	9162	broad.mit.edu	37	7	137148340	137148340	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:137148340T>C	ENST00000288490.5	-	28	2654	c.2654A>G	c.(2653-2655)aAt>aGt	p.N885S	DGKI_ENST00000453654.2_Intron|DGKI_ENST00000424189.2_Missense_Mutation_p.N898S|DGKI_ENST00000446122.1_Missense_Mutation_p.N867S	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	885					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CAGGGCAGGATTCCACCAGTC	0.502																																						uc003vtt.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(2653-2655)AAT>AGT		diacylglycerol kinase, iota							74.0	65.0	68.0					7																	137148340		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137148340T>C	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2654A>G	7.37:g.137148340T>C	ENSP00000288490:p.Asn885Ser					DGKI_uc003vtu.2_Intron	p.N885S	NM_004717	NP_004708	O75912	DGKI_HUMAN			28	2655	-			885					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.2654A>G	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	T	6.085	0.383914	0.11524	.	.	ENSG00000157680	ENST00000424189;ENST00000288490;ENST00000446122	T;T	0.33438	1.41;1.6	5.91	4.73	0.59995	.	0.265188	0.39146	N	0.001452	T	0.13713	0.0332	N	0.08118	0	0.37139	D	0.901635	B	0.11235	0.004	B	0.09377	0.004	T	0.13818	-1.0495	10	0.02654	T	1	.	11.9148	0.52759	0.0:0.0:0.2768:0.7231	.	885	O75912	DGKI_HUMAN	S	888;885;867	ENSP00000288490:N885S;ENSP00000399131:N867S	ENSP00000288490:N885S	N	-	2	0	DGKI	136798880	1.000000	0.71417	0.938000	0.37757	0.920000	0.55202	1.982000	0.40638	1.035000	0.39972	0.533000	0.62120	AAT		0.502	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		24	30	0	0	0	0	24	30				
UBN2	254048	broad.mit.edu	37	7	138944065	138944065	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:138944065A>G	ENST00000473989.3	+	5	854	c.854A>G	c.(853-855)gAg>gGg	p.E285G	UBN2_ENST00000288561.8_Missense_Mutation_p.E202G	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	285	Lys-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AAGCGGAAAGAGGAAGGGGAA	0.388																																						uc011kqr.1		NA																	0				ovary(1)|skin(1)	2						c.(853-855)GAG>GGG		ubinuclein 2							132.0	140.0	137.0					7																	138944065		1842	4088	5930	SO:0001583	missense	254048							g.chr7:138944065A>G	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.854A>G	7.37:g.138944065A>G	ENSP00000418648:p.Glu285Gly					UBN2_uc003vuv.2_Missense_Mutation_p.E8G	p.E285G	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN			5	854	+			285			Lys-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.854A>G	CCDS43655.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.76|16.76	3.211768|3.211768	0.58452|0.58452	.|.	.|.	ENSG00000157741|ENSG00000157741	ENST00000486663;ENST00000473989;ENST00000288561|ENST00000483726	T;T;T|.	0.23348|.	1.91;1.91;1.91|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.307597|.	0.39407|.	N|.	0.001375|.	T|T	0.69815|0.69815	0.3153|0.3153	L|L	0.56769|0.56769	1.78|1.78	0.46478|0.46478	D|D	0.999067|0.999067	B|.	0.18610|.	0.029|.	B|.	0.17433|.	0.018|.	T|T	0.68123|0.68123	-0.5492|-0.5492	10|5	0.56958|.	D|.	0.05|.	-11.1896|-11.1896	14.9418|14.9418	0.71000|0.71000	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	285|.	Q6ZU65|.	UBN2_HUMAN|.	G|G	108;285;202|54	ENSP00000417849:E108G;ENSP00000418648:E285G;ENSP00000288561:E202G|.	ENSP00000288561:E202G|.	E|R	+|+	2|1	0|2	UBN2|UBN2	138594605|138594605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	5.932000|5.932000	0.70121|0.70121	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	GAG|AGG		0.388	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		10	63	0	0	0	0	10	63				
BRAF	673	broad.mit.edu	37	7	140482832	140482832	+	Silent	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:140482832T>G	ENST00000288602.6	-	10	1363	c.1303A>C	c.(1303-1305)Agg>Cgg	p.R435R		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	435					activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	ATTCGATTCCTGTCTTCTGAG	0.388		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.3		61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	0				thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290						c.(1303-1305)AGG>CGG		B-Raf	Sorafenib(DB00398)						81.0	74.0	76.0					7																	140482832		2203	4300	6503	SO:0001819	synonymous_variant	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140482832T>G	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1303A>C	7.37:g.140482832T>G							p.R435R	NM_004333	NP_004324	P15056	BRAF_HUMAN			10	1364	-	Melanoma(164;0.00956)		435					A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Silent	SNP	ENST00000288602.6	37	c.1303A>C	CCDS5863.1																																																																																				0.388	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		16	30	0	0	0	0	16	30				
TRPV5	56302	broad.mit.edu	37	7	142625329	142625329	+	Splice_Site	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:142625329T>C	ENST00000265310.1	-	7	1111	c.763A>G	c.(763-765)Atg>Gtg	p.M255V	TRPV5_ENST00000442623.1_Splice_Site_p.M255V	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	255					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TGCTGGAACATCTGAGAGACC	0.567																																						uc003wby.1		NA																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(763-765)ATG>GTG		transient receptor potential cation channel,							126.0	112.0	117.0					7																	142625329		2203	4300	6503	SO:0001630	splice_region_variant	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142625329T>C	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.763-1A>G	7.37:g.142625329T>C						TRPV5_uc003wbz.2_Missense_Mutation_p.M255V	p.M255V	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			7	1027	-	Melanoma(164;0.059)		255			ANK 5.|Cytoplasmic (Potential).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.763A>G	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	T	8.635	0.894511	0.17613	.	.	ENSG00000127412	ENST00000265310;ENST00000442623	T;T	0.48836	0.8;0.8	4.23	3.08	0.35506	Ankyrin repeat-containing domain (3);	0.147749	0.64402	D	0.000010	T	0.38639	0.1048	L	0.56769	1.78	0.53688	D	0.999973	B;B	0.19073	0.033;0.015	B;B	0.26614	0.071;0.02	T	0.11372	-1.0590	10	0.16896	T	0.51	-4.6684	5.7171	0.17966	0.0:0.0881:0.169:0.7428	.	255;255	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	V	255	ENSP00000265310:M255V;ENSP00000406572:M255V	ENSP00000265310:M255V	M	-	1	0	TRPV5	142335451	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	2.900000	0.48687	0.783000	0.33636	-0.374000	0.07098	ATG		0.567	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841	Missense_Mutation	13	93	0	0	0	0	13	93				
KEL	3792	broad.mit.edu	37	7	142640671	142640671	+	Silent	SNP	G	G	T	rs567252411		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:142640671G>T	ENST00000355265.2	-	15	2079	c.1605C>A	c.(1603-1605)tcC>tcA	p.S535S	KEL_ENST00000479768.2_5'Flank	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	535					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CGTCCCAAGGGGACACCTTCC	0.552																																						uc003wcb.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1603-1605)TCC>TCA		Kell blood group, metallo-endopeptidase							121.0	100.0	107.0					7																	142640671		2203	4300	6503	SO:0001819	synonymous_variant	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142640671G>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1605C>A	7.37:g.142640671G>T							p.S535S	NM_000420	NP_000411	P23276	KELL_HUMAN			15	1815	-	Melanoma(164;0.059)		535			Extracellular (Potential).		B2RBV4|Q96RS8|Q99885	Silent	SNP	ENST00000355265.2	37	c.1605C>A	CCDS34766.1																																																																																				0.552	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		13	57	1	0	2.68e-12	4.55e-12	13	57				
TAS2R41	259287	broad.mit.edu	37	7	143175187	143175187	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:143175187C>A	ENST00000408916.1	+	1	222	c.222C>A	c.(220-222)gtC>gtA	p.V74V	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	74					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CCCAGAAGGTCGAGTACTCTG	0.552																																						uc003wdc.1		NA																	0				pancreas(1)|skin(1)	2						c.(220-222)GTC>GTA		taste receptor, type 2, member 41							111.0	111.0	111.0					7																	143175187		2009	4177	6186	SO:0001819	synonymous_variant	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175187C>A	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.222C>A	7.37:g.143175187C>A						uc003wda.2_Intron	p.V74V	NM_176883	NP_795364	P59536	T2R41_HUMAN			1	222	+	Melanoma(164;0.15)		74			Extracellular (Potential).		P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Silent	SNP	ENST00000408916.1	37	c.222C>A	CCDS43663.1																																																																																				0.552	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			25	110	1	0	2.22e-12	3.77e-12	25	110				
OR2F1	26211	broad.mit.edu	37	7	143657334	143657334	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:143657334G>T	ENST00000392899.1	+	1	308	c.271G>T	c.(271-273)Gcc>Tcc	p.A91S	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	91					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AGAACATAAAGCCATCCCATT	0.502																																						uc003wds.1		NA																	0				skin(2)|ovary(1)	3						c.(271-273)GCC>TCC		olfactory receptor, family 2, subfamily F,							195.0	183.0	187.0					7																	143657334		2203	4300	6503	SO:0001583	missense	26211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143657334G>T	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.271G>T	7.37:g.143657334G>T	ENSP00000376633:p.Ala91Ser						p.A91S	NM_012369	NP_036501	Q13607	OR2F1_HUMAN			1	315	+	Melanoma(164;0.0903)		91			Extracellular (Potential).		A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	ENST00000392899.1	37	c.271G>T	CCDS5887.1	.	.	.	.	.	.	.	.	.	.	G	0.205	-1.041601	0.02013	.	.	ENSG00000213215	ENST00000392899	T	0.01981	4.52	5.41	-2.39	0.06602	GPCR, rhodopsin-like superfamily (1);	2.552420	0.01230	N	0.008325	T	0.01061	0.0035	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45745	-0.9240	10	0.25751	T	0.34	9.3797	4.762	0.13113	0.2558:0.0:0.3018:0.4423	.	91	Q13607	OR2F1_HUMAN	S	91	ENSP00000376633:A91S	ENSP00000376633:A91S	A	+	1	0	OR2F1	143288267	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.921000	0.04008	-0.613000	0.05694	-0.808000	0.03180	GCC		0.502	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			49	178	1	0	7.77e-23	1.44e-22	49	178				
VIPR2	7434	broad.mit.edu	37	7	158835786	158835786	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr7:158835786C>A	ENST00000262178.2	-	6	722	c.537G>T	c.(535-537)aaG>aaT	p.K179N	VIPR2_ENST00000377633.3_Missense_Mutation_p.K163N|VIPR2_ENST00000402066.1_Missense_Mutation_p.K320N	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	179					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GAACGTCGTCCTTGACCAGCA	0.587																																					Pancreas(154;1876 1931 2329 17914 20079)	uc003woh.2		NA																	0				lung(1)|central_nervous_system(1)	2						c.(535-537)AAG>AAT		vasoactive intestinal peptide receptor 2							150.0	116.0	128.0					7																	158835786		2203	4300	6503	SO:0001583	missense	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158835786C>A	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.537G>T	7.37:g.158835786C>A	ENSP00000262178:p.Lys179Asn					VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA	p.K179N	NM_003382	NP_003373	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)	6	723	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	179			Extracellular (Potential).		Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	ENST00000262178.2	37	c.537G>T	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.513426	0.44660	.	.	ENSG00000106018	ENST00000262178;ENST00000377633;ENST00000402066	T;T;T	0.39229	1.09;1.09;1.09	5.1	4.2	0.49525	GPCR, family 2-like (1);	0.000000	0.53938	D	0.000044	T	0.68668	0.3026	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74760	-0.3556	9	.	.	.	.	11.9519	0.52961	0.0:0.913:0.0:0.087	.	179	P41587	VIPR2_HUMAN	N	179;163;320	ENSP00000262178:K179N;ENSP00000366860:K163N;ENSP00000384497:K320N	.	K	-	3	2	VIPR2	158528547	1.000000	0.71417	0.999000	0.59377	0.218000	0.24690	0.962000	0.29280	1.250000	0.43966	0.655000	0.94253	AAG		0.587	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		13	40	1	0	0.000151284	0.000215542	13	40				
MYOM2	9172	broad.mit.edu	37	8	2044190	2044190	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:2044190G>T	ENST00000262113.4	+	18	2370	c.2229G>T	c.(2227-2229)ctG>ctT	p.L743L	MYOM2_ENST00000523438.1_Silent_p.L168L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	743	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CGCCCATCCTGGGCTACTACC	0.532																																						uc003wpx.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2227-2229)CTG>CTT		myomesin 2							91.0	82.0	85.0					8																	2044190		2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2044190G>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2229G>T	8.37:g.2044190G>T						MYOM2_uc011kwi.1_Silent_p.L168L	p.L743L	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	18	2367	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	743			Fibronectin type-III 4.		Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.2229G>T	CCDS5957.1																																																																																				0.532	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		13	60	1	0	1.58e-08	2.54e-08	13	60				
DLC1	10395	broad.mit.edu	37	8	13356615	13356615	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:13356615C>T	ENST00000276297.4	-	2	1375	c.966G>A	c.(964-966)aaG>aaA	p.K322K	DLC1_ENST00000316609.5_Silent_p.K322K|DLC1_ENST00000511869.1_Silent_p.K322K	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	322					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CCAGGGTCTCCTTTAATTGTA	0.428																																						uc003wwm.2		NA																	0				ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(964-966)AAG>AAA		deleted in liver cancer 1 isoform 1							161.0	140.0	147.0					8																	13356615		2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13356615C>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.966G>A	8.37:g.13356615C>T						DLC1_uc003wwn.2_Silent_p.K322K|DLC1_uc011kxy.1_Silent_p.K322K	p.K322K	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			2	1410	-			322					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.966G>A	CCDS5989.1																																																																																				0.428	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		16	44	0	0	0	0	16	44				
NUDT18	79873	broad.mit.edu	37	8	21965720	21965720	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:21965720A>T	ENST00000309188.6	-	4	418	c.300T>A	c.(298-300)tgT>tgA	p.C100*	NUDT18_ENST00000522405.1_Nonsense_Mutation_p.C23*|NUDT18_ENST00000521807.2_3'UTR	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	100	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				dADP catabolic process (GO:0046057)|dGDP catabolic process (GO:0046067)|GDP catabolic process (GO:0046712)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	8-hydroxy-dADP phosphatase activity (GO:0044717)|8-oxo-dGDP phosphatase activity (GO:0044715)|8-oxo-GDP phosphatase activity (GO:0044716)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		TCTCGGGCTCACAGTGCAGCC	0.697																																						uc003xaq.1		NA																	0					0						c.(298-300)TGT>TGA		nudix (nucleoside diphosphate linked moiety							26.0	36.0	33.0					8																	21965720		2140	4224	6364	SO:0001587	stop_gained	79873						hydrolase activity|metal ion binding|protein binding	g.chr8:21965720A>T		CCDS75706.1	8p21.3	2012-07-31				ENSG00000275074		"""Nudix motif containing"""	26194	protein-coding gene	gene with protein product	"""mutT human homolog 3"""	615791				22556419	Standard	NM_024815		Approved	FLJ22494, MTH3	uc003xaq.1	Q6ZVK8		ENST00000309188.6:c.300T>A	8.37:g.21965720A>T	ENSP00000307852:p.Cys100*					NUDT18_uc003xar.1_3'UTR	p.C100*	NM_024815	NP_079091	Q6ZVK8	NUD18_HUMAN		Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)	5	419	-			100			Nudix hydrolase.		Q8IZ75|Q9H687	Nonsense_Mutation	SNP	ENST00000309188.6	37	c.300T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.7|28.7	4.940431|4.940431	0.92526|0.92526	.|.	.|.	ENSG00000173566|ENSG00000173566	ENST00000522405;ENST00000309188|ENST00000522379	.|.	.|.	.|.	5.34|5.34	-2.98|-2.98	0.05513|0.05513	.|.	0.104873|.	0.64402|.	D|.	0.000002|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.02654|.	T|.	1|.	-12.2474|-12.2474	6.8168|6.8168	0.23835|0.23835	0.4275:0.1387:0.4338:0.0|0.4275:0.1387:0.4338:0.0	.|.	.|.	.|.	.|.	X|R	23;100|136	.|.	ENSP00000307852:C100X|.	C|X	-|-	3|1	2|0	NUDT18|NUDT18	22021665|22021665	0.065000|0.065000	0.20965|0.20965	0.812000|0.812000	0.32479|0.32479	0.918000|0.918000	0.54935|0.54935	-0.185000|-0.185000	0.09684|0.09684	-0.533000|-0.533000	0.06323|0.06323	-0.441000|-0.441000	0.05720|0.05720	TGT|TGA		0.697	NUDT18-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_024815		3	22	0	0	0	0	3	22				
DUSP4	1846	broad.mit.edu	37	8	29207392	29207392	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:29207392G>A	ENST00000240100.2	-	1	793	c.404C>T	c.(403-405)gCc>gTc	p.A135V	RP4-676L2.1_ENST00000567818.1_RNA|DUSP4_ENST00000240101.2_5'Flank	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	135	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				endoderm formation (GO:0001706)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein dephosphorylation (GO:0006470)|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)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GGTGCGCTCGGCGTTGCGGCG	0.687																																						uc003xhm.2		NA																	0				lung(1)	1						c.(403-405)GCC>GTC		dual specificity phosphatase 4 isoform 1							14.0	13.0	13.0					8																	29207392		2072	4078	6150	SO:0001583	missense	1846				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity	g.chr8:29207392G>A	U21108	CCDS6072.1, CCDS6073.1	8p12-p11	2011-06-09			ENSG00000120875	ENSG00000120875		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3070	protein-coding gene	gene with protein product	"""VH1 homologous phosphatase 2"", ""MAP kinase phosphatase 2"""	602747				7535768, 9205128	Standard	NM_001394		Approved	HVH2, MKP-2, TYP	uc003xhm.3	Q13115	OTTHUMG00000133395	ENST00000240100.2:c.404C>T	8.37:g.29207392G>A	ENSP00000240100:p.Ala135Val					DUSP4_uc003xhl.2_5'Flank	p.A135V	NM_001394	NP_001385	Q13115	DUS4_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)	1	794	-			135			Rhodanese.		B2RBU5|D3DSU4|G5E930|Q13524	Missense_Mutation	SNP	ENST00000240100.2	37	c.404C>T	CCDS6072.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530756	0.64860	.	.	ENSG00000120875	ENST00000240100	T	0.42513	0.97	3.81	3.81	0.43845	Rhodanese-like (5);	0.333957	0.32190	N	0.006454	T	0.32823	0.0842	N	0.25890	0.77	0.80722	D	1	B	0.29232	0.238	B	0.34590	0.186	T	0.13388	-1.0511	10	0.30854	T	0.27	.	13.9806	0.64301	0.0:0.0:1.0:0.0	.	135	Q13115	DUS4_HUMAN	V	135	ENSP00000240100:A135V	ENSP00000240100:A135V	A	-	2	0	DUSP4	29263311	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	8.743000	0.91592	2.428000	0.82296	0.491000	0.48974	GCC		0.687	DUSP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257249.1	NM_001394		13	16	0	0	0	0	13	16				
ADAM2	2515	broad.mit.edu	37	8	39682336	39682336	+	Splice_Site	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:39682336A>T	ENST00000265708.4	-	4	371		c.e4+1		ADAM2_ENST00000523181.1_Splice_Site|ADAM2_ENST00000521880.1_Splice_Site|ADAM2_ENST00000347580.4_Splice_Site|ADAM2_ENST00000379853.2_Splice_Site	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2						adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TAAAAAACATACCTGAAAATC	0.318																																						uc003xnj.2		NA																	0				ovary(1)|lung(1)	2						c.e4+1		ADAM metallopeptidase domain 2 proprotein							68.0	68.0	68.0					8																	39682336		2202	4296	6498	SO:0001630	splice_region_variant	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39682336A>T	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.267+1T>A	8.37:g.39682336A>T						ADAM2_uc003xnk.2_Splice_Site_p.Q89_splice|ADAM2_uc011lck.1_Splice_Site_p.Q89_splice|ADAM2_uc003xnl.2_Splice_Site_p.Q89_splice	p.Q89_splice	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	4	342	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)						P78326|Q9UQQ8	Splice_Site	SNP	ENST00000265708.4	37	c.267_splice	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.327060	0.41197	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9312	0.52847	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAM2	39801493	1.000000	0.71417	0.989000	0.46669	0.401000	0.30781	3.570000	0.53834	2.084000	0.62774	0.477000	0.44152	.		0.318	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464	Intron	6	30	0	0	0	0	6	30				
ADAM2	2515	broad.mit.edu	37	8	39682401	39682401	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:39682401A>T	ENST00000265708.4	-	4	307	c.204T>A	c.(202-204)caT>caA	p.H68Q	ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000521880.1_Missense_Mutation_p.H68Q|ADAM2_ENST00000347580.4_Missense_Mutation_p.H68Q|ADAM2_ENST00000379853.2_Missense_Mutation_p.H68Q	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	68					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTCTAAAATTATGGGGTAAAA	0.269																																						uc003xnj.2		NA																	0				ovary(1)|lung(1)	2						c.(202-204)CAT>CAA		ADAM metallopeptidase domain 2 proprotein							50.0	52.0	52.0					8																	39682401		2202	4294	6496	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39682401A>T	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.204T>A	8.37:g.39682401A>T	ENSP00000265708:p.His68Gln					ADAM2_uc003xnk.2_Missense_Mutation_p.H68Q|ADAM2_uc011lck.1_Missense_Mutation_p.H68Q|ADAM2_uc003xnl.2_Missense_Mutation_p.H68Q	p.H68Q	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	4	279	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	68					P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.204T>A	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.942743	0.00479	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.05580	3.42;3.42;3.42;3.42	5.46	-0.0868	0.13680	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.03739	0.0106	N	0.25789	0.76	0.09310	N	1	B;B;B;B	0.10296	0.001;0.003;0.0;0.0	B;B;B;B	0.15052	0.012;0.01;0.007;0.012	T	0.46679	-0.9174	8	.	.	.	.	1.5463	0.02566	0.4736:0.1514:0.0831:0.2918	.	68;68;68;68	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	Q	68	ENSP00000343854:H68Q;ENSP00000369182:H68Q;ENSP00000265708:H68Q;ENSP00000429352:H68Q	.	H	-	3	2	ADAM2	39801558	0.002000	0.14202	0.000000	0.03702	0.035000	0.12851	-0.096000	0.11059	-0.237000	0.09739	0.477000	0.44152	CAT		0.269	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		13	33	0	0	0	0	13	33				
SNTG1	54212	broad.mit.edu	37	8	51449264	51449264	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:51449264G>T	ENST00000522124.1	+	11	1237	c.576G>T	c.(574-576)ccG>ccT	p.P192P	SNTG1_ENST00000517473.1_Silent_p.P192P|SNTG1_ENST00000518864.1_Silent_p.P192P|SNTG1_ENST00000276467.5_Silent_p.P192P	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	192					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CGTCGTGGCCGACGTCTCCAG	0.463																																						uc010lxy.1		NA																	0				ovary(5)	5						c.(574-576)CCG>CCT		syntrophin, gamma 1							186.0	169.0	175.0					8																	51449264		2203	4300	6503	SO:0001819	synonymous_variant	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51449264G>T	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.576G>T	8.37:g.51449264G>T						SNTG1_uc003xqs.1_Silent_p.P192P|SNTG1_uc010lxz.1_Silent_p.P192P|SNTG1_uc011ldl.1_RNA	p.P192P	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			12	947	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	192					Q2M3Q0|Q9NY98	Silent	SNP	ENST00000522124.1	37	c.576G>T	CCDS6147.1																																																																																				0.463	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			35	131	1	0	5.44e-19	9.91e-19	35	131				
ST18	9705	broad.mit.edu	37	8	53045843	53045843	+	Silent	SNP	G	G	A	rs369209561		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:53045843G>A	ENST00000276480.7	-	20	3002	c.2319C>T	c.(2317-2319)tgC>tgT	p.C773C		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	773					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCGAGCCATCGCAGCCTGGGG	0.522																																						uc003xqz.2		NA																	0				ovary(4)|skin(1)	5						c.(2317-2319)TGC>TGT		suppression of tumorigenicity 18		G		0,4406		0,0,2203	82.0	76.0	78.0		2319	-10.7	0.3	8		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ST18	NM_014682.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		773/1048	53045843	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53045843G>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2319C>T	8.37:g.53045843G>A						ST18_uc011ldq.1_Silent_p.C420C|ST18_uc011ldr.1_Silent_p.C738C|ST18_uc011lds.1_Silent_p.C678C|ST18_uc003xra.2_Silent_p.C773C	p.C773C	NM_014682	NP_055497	O60284	ST18_HUMAN			15	2475	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	773			C2HC-type 4.		Q17RY1	Silent	SNP	ENST00000276480.7	37	c.2319C>T	CCDS6149.1																																																																																				0.522	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			16	70	0	0	0	0	16	70				
RP1	6101	broad.mit.edu	37	8	55538431	55538431	+	Missense_Mutation	SNP	G	G	T	rs372551375		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:55538431G>T	ENST00000220676.1	+	4	2137	c.1989G>T	c.(1987-1989)aaG>aaT	p.K663N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	663			K -> N (in RP1; unknown pathological significance). {ECO:0000269|PubMed:10484783, ECO:0000269|PubMed:11095597}.		axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATGAAAAGAAGATTTTGTCAT	0.363																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	0				skin(7)|ovary(4)|pancreas(1)	12	GRCh37	CM992206	RP1	M		c.(1987-1989)AAG>AAT		retinitis pigmentosa RP1 protein							30.0	31.0	30.0					8																	55538431		2200	4281	6481	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55538431G>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1989G>T	8.37:g.55538431G>T	ENSP00000220676:p.Lys663Asn					RP1_uc011ldy.1_Intron	p.K663N	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	2137	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	663		K -> N (in RP1; uncertain pathogenicity).				Missense_Mutation	SNP	ENST00000220676.1	37	c.1989G>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	3.628	-0.076078	0.07184	.	.	ENSG00000104237	ENST00000220676	T	0.21932	1.98	5.93	3.92	0.45320	.	0.755546	0.11633	N	0.544603	T	0.11324	0.0276	N	0.14661	0.345	0.09310	N	1	P	0.34462	0.454	B	0.27380	0.079	T	0.21759	-1.0236	10	0.33141	T	0.24	.	8.7593	0.34665	0.3878:0.0:0.6122:0.0	.	663	P56715	RP1_HUMAN	N	663	ENSP00000220676:K663N	ENSP00000220676:K663N	K	+	3	2	RP1	55700984	0.000000	0.05858	0.040000	0.18447	0.206000	0.24218	-0.161000	0.10026	0.657000	0.30906	0.591000	0.81541	AAG		0.363	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		8	33	1	0	1.07e-07	1.67e-07	8	33				
ADHFE1	137872	broad.mit.edu	37	8	67357536	67357536	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:67357536G>A	ENST00000396623.3	+	6	468	c.437G>A	c.(436-438)tGt>tAt	p.C146Y	ADHFE1_ENST00000415254.1_Missense_Mutation_p.C98Y|ADHFE1_ENST00000379385.4_Missense_Mutation_p.C146Y|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	146					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			ATGGACACCTGTAAGGCTGCT	0.478																																						uc003xwb.3		NA																	0				ovary(1)|lung(1)|breast(1)|skin(1)	4						c.(436-438)TGT>TAT		alcohol dehydrogenase, iron containing, 1							218.0	184.0	196.0					8																	67357536		2203	4300	6503	SO:0001583	missense	137872				2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	g.chr8:67357536G>A	AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.437G>A	8.37:g.67357536G>A	ENSP00000379865:p.Cys146Tyr					ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Missense_Mutation_p.C98Y|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_Intron|ADHFE1_uc011les.1_Missense_Mutation_p.C76Y|ADHFE1_uc011leq.1_Intron|ADHFE1_uc011ler.1_Intron	p.C146Y	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		6	471	+		Lung NSC(129;0.197)	146					B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	ENST00000396623.3	37	c.437G>A	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979781	0.92982	.	.	ENSG00000147576	ENST00000523113;ENST00000379385;ENST00000396623;ENST00000415254	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.85	5.85	0.93711	Alcohol dehydrogenase, iron-type (1);	0.000000	0.85682	D	0.000000	T	0.71592	0.3358	M	0.86343	2.81	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.75439	-0.3317	10	0.87932	D	0	-2.33	20.1731	0.98165	0.0:0.0:1.0:0.0	.	146	Q8IWW8	HOT_HUMAN	Y	81;146;146;98	ENSP00000428055:C81Y;ENSP00000368695:C146Y;ENSP00000379865:C146Y;ENSP00000407115:C98Y	ENSP00000368695:C146Y	C	+	2	0	ADHFE1	67520090	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.449000	0.97603	2.768000	0.95171	0.655000	0.94253	TGT		0.478	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650		35	116	0	0	0	0	35	116				
LRRCC1	85444	broad.mit.edu	37	8	86042283	86042283	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:86042283C>A	ENST00000360375.3	+	11	1905	c.1756C>A	c.(1756-1758)Cag>Aag	p.Q586K	LRRCC1_ENST00000414626.2_Missense_Mutation_p.Q566K	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	586					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ATTGAAAGAACAGGAACACAG	0.348																																						uc003ycw.2		NA																	0					0						c.(1756-1758)CAG>AAG		sodium channel associated protein 2 isoform a							75.0	70.0	72.0					8																	86042283		1847	4087	5934	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86042283C>A	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1756C>A	8.37:g.86042283C>A	ENSP00000353538:p.Gln586Lys					LRRCC1_uc010lzz.1_RNA|LRRCC1_uc010maa.1_Missense_Mutation_p.Q287K|LRRCC1_uc003ycx.2_Missense_Mutation_p.Q493K|LRRCC1_uc003ycy.2_Missense_Mutation_p.Q566K	p.Q586K	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN			11	1910	+			586			Potential.		B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.1756C>A	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.733936	0.30684	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.32988	1.43;1.43	5.35	1.35	0.21983	.	0.202751	0.24688	N	0.036410	T	0.27241	0.0668	M	0.64997	1.995	0.29726	N	0.838244	B;B;B;B	0.20052	0.003;0.011;0.005;0.041	B;B;B;B	0.17979	0.004;0.011;0.006;0.02	T	0.34800	-0.9814	10	0.10636	T	0.68	-3.2308	12.6999	0.57026	0.1212:0.5282:0.3506:0.0	.	493;566;493;586	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	K	586;566	ENSP00000353538:Q586K;ENSP00000394695:Q566K	ENSP00000353538:Q586K	Q	+	1	0	LRRCC1	86229535	0.959000	0.32827	0.152000	0.22495	0.772000	0.43724	1.892000	0.39748	0.034000	0.15491	-0.175000	0.13238	CAG		0.348	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		13	49	1	0	4.37e-10	7.18e-10	13	49				
CA3	761	broad.mit.edu	37	8	86351950	86351950	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:86351950A>T	ENST00000285381.2	+	2	127	c.44A>T	c.(43-45)cAc>cTc	p.H15L	RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	15					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|response to ethanol (GO:0045471)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|nickel cation binding (GO:0016151)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23					Acetazolamide(DB00819)|Zonisamide(DB00909)	GGTCCTGACCACTGGCATGAA	0.473																																						uc003ydj.2		NA																	0					0						c.(43-45)CAC>CTC		carbonic anhydrase III							53.0	51.0	52.0					8																	86351950		2203	4300	6503	SO:0001583	missense	761				one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	g.chr8:86351950A>T	AJ006473	CCDS6238.1	8q21.2	2012-10-02					4.2.1.1	"""Carbonic anhydrases"""	1374	protein-coding gene	gene with protein product		114750				6221502	Standard	NM_005181		Approved	Car3, CAIII	uc003ydj.3	P07451		ENST00000285381.2:c.44A>T	8.37:g.86351950A>T	ENSP00000285381:p.His15Leu					CA13_uc003ydf.1_RNA|CA3_uc011lfv.1_RNA	p.H15L	NM_005181	NP_005172	P07451	CAH3_HUMAN			2	127	+			15					B2R867|B3KUC8|O60842	Missense_Mutation	SNP	ENST00000285381.2	37	c.44A>T	CCDS6238.1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.171852	0.38315	.	.	ENSG00000164879	ENST00000285381;ENST00000426378	T	0.45276	0.9	5.75	4.58	0.56647	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.316912	0.36444	N	0.002588	T	0.40767	0.1130	M	0.76838	2.35	0.43771	D	0.996295	B	0.28233	0.204	B	0.21360	0.034	T	0.37103	-0.9720	10	0.56958	D	0.05	-19.5954	6.979	0.24692	0.775:0.1496:0.0754:0.0	.	15	P07451	CAH3_HUMAN	L	15	ENSP00000285381:H15L	ENSP00000285381:H15L	H	+	2	0	CA3	86539202	0.834000	0.29399	1.000000	0.80357	0.877000	0.50540	1.372000	0.34261	0.995000	0.38917	0.491000	0.48974	CAC		0.473	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381090.1	NM_005181		9	25	0	0	0	0	9	25				
ATP6V1C1	528	broad.mit.edu	37	8	104054596	104054596	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:104054596T>G	ENST00000395862.3	+	3	320	c.161T>G	c.(160-162)tTg>tGg	p.L54W	ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.L54W|ATP6V1C1_ENST00000521514.1_5'UTR|ATP6V1C1_ENST00000518857.1_Intron	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	54					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			TTGGTTGGCTTGTCAGATGAA	0.363																																						uc003ykz.3		NA																	0					0						c.(160-162)TTG>TGG		ATPase, H+ transporting, lysosomal V1 subunit							225.0	215.0	218.0					8																	104054596		2203	4300	6503	SO:0001583	missense	528				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:104054596T>G	X69151	CCDS6296.1	8p22.3	2011-05-24	2006-01-13	2002-05-10	ENSG00000155097	ENSG00000155097	3.6.3.14	"""ATPases / V-type"""	856	protein-coding gene	gene with protein product		603097	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1"""	ATP6D, ATP6C		8250920, 14580332	Standard	NM_001695		Approved	VATC, Vma5	uc003ykz.4	P21283	OTTHUMG00000164761	ENST00000395862.3:c.161T>G	8.37:g.104054596T>G	ENSP00000379203:p.Leu54Trp					ATP6V1C1_uc010mbz.2_5'UTR|ATP6V1C1_uc003yla.2_Missense_Mutation_p.L54W|ATP6V1C1_uc011lhl.1_Intron	p.L54W	NM_001695	NP_001686	P21283	VATC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)		3	406	+	Lung NSC(17;0.000427)|all_lung(17;0.000533)		54						Missense_Mutation	SNP	ENST00000395862.3	37	c.161T>G	CCDS6296.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.713830	0.89112	.	.	ENSG00000155097	ENST00000395862;ENST00000518738	T;T	0.51325	0.71;0.71	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.78972	0.4368	H	0.96080	3.765	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.85962	0.1471	10	0.87932	D	0	.	15.7322	0.77814	0.0:0.0:0.0:1.0	.	54	P21283	VATC1_HUMAN	W	54	ENSP00000379203:L54W;ENSP00000430282:L54W	ENSP00000379203:L54W	L	+	2	0	ATP6V1C1	104123772	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.409000	0.80053	2.197000	0.70478	0.528000	0.53228	TTG		0.363	ATP6V1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380101.1	NM_001695		75	45	0	0	0	0	75	45				
PKHD1L1	93035	broad.mit.edu	37	8	110509197	110509197	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:110509197T>A	ENST00000378402.5	+	64	10481	c.10377T>A	c.(10375-10377)ggT>ggA	p.G3459G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3459					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCCATGGAGGTTTATATGGGA	0.388										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(10375-10377)GGT>GGA		fibrocystin L precursor							158.0	149.0	152.0					8																	110509197		1811	4083	5894	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110509197T>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10377T>A	8.37:g.110509197T>A		HNSCC(38;0.096)					p.G3459G	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		64	10481	+			3459			Extracellular (Potential).		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.10377T>A	CCDS47911.1																																																																																				0.388	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		38	93	0	0	0	0	38	93				
CSMD3	114788	broad.mit.edu	37	8	113694687	113694687	+	Silent	SNP	C	C	T	rs147640061		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:113694687C>T	ENST00000297405.5	-	16	2905	c.2661G>A	c.(2659-2661)ctG>ctA	p.L887L	CSMD3_ENST00000352409.3_Silent_p.L887L|CSMD3_ENST00000455883.2_Silent_p.L783L|CSMD3_ENST00000343508.3_Silent_p.L847L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	887	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTTTGGAATCAGTCCACTCC	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(2659-2661)CTG>CTA		CUB and Sushi multiple domains 3 isoform 1							139.0	135.0	136.0					8																	113694687		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113694687C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2661G>A	8.37:g.113694687C>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.L159L|CSMD3_uc003ynt.2_Silent_p.L847L|CSMD3_uc011lhx.1_Silent_p.L783L	p.L887L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			16	2820	-			887			Sushi 4.|Extracellular (Potential).		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.2661G>A	CCDS6315.1																																																																																				0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		36	88	0	0	0	0	36	88				
CSMD3	114788	broad.mit.edu	37	8	114111075	114111075	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:114111075C>T	ENST00000297405.5	-	5	1071	c.827G>A	c.(826-828)gGg>gAg	p.G276E	CSMD3_ENST00000352409.3_Missense_Mutation_p.G276E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G276E|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000343508.3_Missense_Mutation_p.G236E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	276	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATTGTGTCCCCAGGCTCTGC	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(826-828)GGG>GAG		CUB and Sushi multiple domains 3 isoform 1							114.0	103.0	106.0					8																	114111075		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114111075C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.827G>A	8.37:g.114111075C>T	ENSP00000297405:p.Gly276Glu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.G236E|CSMD3_uc011lhx.1_Missense_Mutation_p.G276E|CSMD3_uc010mcx.1_Missense_Mutation_p.G276E	p.G276E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			5	986	-			276			Extracellular (Potential).|CUB 2.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.827G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792459	0.70452	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.4	5.4	0.78164	CUB (5);	0.000000	0.64402	D	0.000001	T	0.68247	0.2980	M	0.90145	3.09	0.51767	D	0.999936	P;D;D;D	0.89917	0.763;1.0;1.0;0.995	B;D;D;D	0.97110	0.288;1.0;1.0;0.993	T	0.69917	-0.5015	10	0.35671	T	0.21	.	19.5394	0.95268	0.0:1.0:0.0:0.0	.	276;276;276;236	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	E	236;276;276;276	ENSP00000345799:G236E;ENSP00000297405:G276E;ENSP00000412263:G276E;ENSP00000343124:G276E	ENSP00000297405:G276E	G	-	2	0	CSMD3	114180251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.729000	0.84864	2.703000	0.92315	0.650000	0.86243	GGG		0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		17	24	0	0	0	0	17	24				
COL14A1	7373	broad.mit.edu	37	8	121290348	121290348	+	Splice_Site	SNP	A	A	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:121290348A>T	ENST00000297848.3	+	27	3483		c.e27-1		COL14A1_ENST00000309791.4_Splice_Site|COL14A1_ENST00000247781.3_Splice_Site	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTCTCTCTCCAGGTTGCAATG	0.373																																						uc003yox.2		NA																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.e27-2		collagen, type XIV, alpha 1 precursor							122.0	127.0	125.0					8																	121290348		2203	4300	6503	SO:0001630	splice_region_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121290348A>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3214-1A>T	8.37:g.121290348A>T						COL14A1_uc003yoz.2_Splice_Site_p.V37_splice	p.V1072_splice	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		27	3479	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)								Splice_Site	SNP	ENST00000297848.3	37	c.3214_splice	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.540491	0.45176	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	.	.	.	5.6	4.43	0.53597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8881	0.58055	0.864:0.136:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL14A1	121359529	1.000000	0.71417	0.908000	0.35775	0.390000	0.30446	9.309000	0.96252	0.936000	0.37367	-0.321000	0.08615	.		0.373	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	Intron	28	126	0	0	0	0	28	126				
MTBP	27085	broad.mit.edu	37	8	121475942	121475942	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:121475942A>G	ENST00000305949.1	+	10	1033	c.988A>G	c.(988-990)Aac>Gac	p.N330D		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	330					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AGGATTGACAAACAGTACCAA	0.353																																						uc003ypc.1		NA																	0				skin(2)|ovary(1)	3						c.(988-990)AAC>GAC		Mdm2, transformed 3T3 cell double minute 2, p53							221.0	214.0	216.0					8																	121475942		2203	4300	6503	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121475942A>G		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.988A>G	8.37:g.121475942A>G	ENSP00000303398:p.Asn330Asp					MTBP_uc011lie.1_RNA	p.N330D	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		10	1033	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		330					B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.988A>G	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	A	13.13	2.145928	0.37923	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.04	3.7	0.42460	.	0.596517	0.18109	N	0.151438	T	0.44350	0.1289	M	0.63843	1.955	0.24569	N	0.993934	B	0.11235	0.004	B	0.09377	0.004	T	0.39057	-0.9632	9	0.51188	T	0.08	-9.0739	9.9493	0.41630	0.7295:0.2705:0.0:0.0	.	330	Q96DY7	MTBP_HUMAN	D	330	.	ENSP00000303398:N330D	N	+	1	0	MTBP	121545123	0.105000	0.21958	0.026000	0.17262	0.987000	0.75469	1.094000	0.30951	0.533000	0.28675	0.467000	0.42956	AAC		0.353	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		25	132	0	0	0	0	25	132				
MYC	4609	broad.mit.edu	37	8	128753114	128753114	+	Silent	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:128753114G>A	ENST00000377970.2	+	3	1785	c.1275G>A	c.(1273-1275)gaG>gaA	p.E425E	MYC_ENST00000524013.1_Silent_p.E424E	NM_002467.4	NP_002458	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	410	Leucine-zipper.				branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	AAGCAGAGGAGCAAAAGCTCA	0.458		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""																																	uc003ysi.2		3		Dom	yes		8	8q24.12-q24.13	4609	A|T	v-myc myelocytomatosis viral oncogene homolog (avian)			"""L, E"""	IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@		Burkitt lymphoma| amplified in other cancers|B-CLL		0				lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1)	6						c.(1273-1275)GAG>GAA		myc proto-oncogene protein							89.0	96.0	93.0					8																	128753114		2203	4300	6503	SO:0001819	synonymous_variant	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128753114G>A		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000377970.2:c.1275G>A	8.37:g.128753114G>A							p.E425E	NM_002467	NP_002458	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	3	1800	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	410					A8WFE7|P01107|Q14026	Silent	SNP	ENST00000377970.2	37	c.1275G>A	CCDS6359.2																																																																																				0.458	MYC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250277.3			42	282	0	0	0	0	42	282				
TG	7038	broad.mit.edu	37	8	134107379	134107379	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:134107379T>C	ENST00000220616.4	+	42	7371	c.7331T>C	c.(7330-7332)aTg>aCg	p.M2444T	SLA_ENST00000524345.1_Intron|SLA_ENST00000517648.1_Intron|SLA_ENST00000395352.3_Intron|SLA_ENST00000338087.5_Intron|TG_ENST00000377869.1_Missense_Mutation_p.M2387T|SLA_ENST00000518565.1_Intron|TG_ENST00000542445.1_Missense_Mutation_p.M814T|TG_ENST00000519543.1_Missense_Mutation_p.M577T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2444					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGTTGCCCCATGTCATCCAGC	0.587																																						uc003ytw.2		NA																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(7330-7332)ATG>ACG		thyroglobulin precursor							178.0	152.0	161.0					8																	134107379		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134107379T>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7331T>C	8.37:g.134107379T>C	ENSP00000220616:p.Met2444Thr					TG_uc010mdw.2_Missense_Mutation_p.M1203T|TG_uc011ljb.1_Missense_Mutation_p.M813T|TG_uc011ljc.1_Missense_Mutation_p.M577T|SLA_uc003ytz.2_Intron|SLA_uc011lje.1_Intron|SLA_uc011ljf.1_Intron|SLA_uc011ljg.1_Intron|SLA_uc010mea.2_Intron	p.M2444T	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	42	7372	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2444					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.7331T>C	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.756667	0.00085	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	6.07	-2.71	0.05986	Carboxylesterase, type B (1);	0.947164	0.08840	N	0.885927	T	0.16128	0.0388	N	0.00125	-2.05	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.30621	-0.9972	10	0.09084	T	0.74	.	4.3851	0.11312	0.2107:0.3664:0.3413:0.0816	.	577;814;2444	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	T	2387;1250;2444;814;577	ENSP00000367100:M2387T;ENSP00000220616:M2444T;ENSP00000441693:M814T;ENSP00000430430:M577T	ENSP00000220616:M2444T	M	+	2	0	TG	134176561	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.135000	0.10420	-0.470000	0.06901	-1.213000	0.01624	ATG		0.587	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		124	110	0	0	0	0	124	110				
COL22A1	169044	broad.mit.edu	37	8	139824102	139824102	+	Silent	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:139824102T>A	ENST00000303045.6	-	9	1835	c.1389A>T	c.(1387-1389)ccA>ccT	p.P463P	COL22A1_ENST00000435777.1_Silent_p.P463P	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	463	Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTTCACTGCCTGGGGTGGGAG	0.602										HNSCC(7;0.00092)																												uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(1387-1389)CCA>CCT		collagen, type XXII, alpha 1							36.0	32.0	34.0					8																	139824102		2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139824102T>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1389A>T	8.37:g.139824102T>A		HNSCC(7;0.00092)					p.P463P	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		9	1836	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		463			Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.1389A>T	CCDS6376.1																																																																																				0.602	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		8	30	0	0	0	0	8	30				
GPR20	2843	broad.mit.edu	37	8	142367609	142367609	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:142367609G>A	ENST00000377741.3	-	2	505	c.415C>T	c.(415-417)Ctc>Ttc	p.L139F	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	139					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GTGAGGAAGAGGATGGAGCAG	0.687																																						uc003ywf.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(415-417)CTC>TTC		G protein-coupled receptor 20							59.0	62.0	61.0					8																	142367609		2203	4300	6503	SO:0001583	missense	2843					integral to plasma membrane	G-protein coupled receptor activity	g.chr8:142367609G>A	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"""GPCR / Class A : Orphans"""	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.415C>T	8.37:g.142367609G>A	ENSP00000366970:p.Leu139Phe						p.L139F	NM_005293	NP_005284	Q99678	GPR20_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0415)		2	504	-	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		139			Helical; Name=3; (Potential).		Q17R96	Missense_Mutation	SNP	ENST00000377741.3	37	c.415C>T	CCDS34949.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176386	0.78564	.	.	ENSG00000204882	ENST00000377741	T	0.36699	1.24	4.84	3.96	0.45880	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.39937	0.1097	N	0.25286	0.73	0.44302	D	0.997179	D	0.53312	0.959	P	0.60415	0.874	T	0.09818	-1.0657	10	0.27082	T	0.32	-40.2071	13.554	0.61749	0.0:0.0:0.8432:0.1568	.	139	Q99678	GPR20_HUMAN	F	139	ENSP00000366970:L139F	ENSP00000366970:L139F	L	-	1	0	GPR20	142436791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.479000	0.66813	1.024000	0.39682	0.561000	0.74099	CTC		0.687	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293		13	58	0	0	0	0	13	58				
PLEC	5339	broad.mit.edu	37	8	144996134	144996134	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr8:144996134G>T	ENST00000322810.4	-	32	8435	c.8266C>A	c.(8266-8268)Cag>Aag	p.Q2756K	PLEC_ENST00000436759.2_Missense_Mutation_p.Q2646K|PLEC_ENST00000398774.2_Missense_Mutation_p.Q2587K|PLEC_ENST00000527096.1_Missense_Mutation_p.Q2642K|PLEC_ENST00000354958.2_Missense_Mutation_p.Q2597K|PLEC_ENST00000356346.3_Missense_Mutation_p.Q2605K|PLEC_ENST00000345136.3_Missense_Mutation_p.Q2619K|PLEC_ENST00000354589.3_Missense_Mutation_p.Q2619K|PLEC_ENST00000357649.2_Missense_Mutation_p.Q2623K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2756	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCAGCCACCTGCGAGGCAGTG	0.682																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(8266-8268)CAG>AAG		plectin isoform 1							13.0	17.0	15.0					8																	144996134		2040	4112	6152	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144996134G>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8266C>A	8.37:g.144996134G>T	ENSP00000323856:p.Gln2756Lys					PLEC_uc003zab.1_Missense_Mutation_p.Q2619K|PLEC_uc003zac.1_Missense_Mutation_p.Q2623K|PLEC_uc003zad.2_Missense_Mutation_p.Q2619K|PLEC_uc003zae.1_Missense_Mutation_p.Q2587K|PLEC_uc003zag.1_Missense_Mutation_p.Q2597K|PLEC_uc003zah.2_Missense_Mutation_p.Q2605K|PLEC_uc003zaj.2_Missense_Mutation_p.Q2646K	p.Q2756K	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	8436	-			2756			Globular 2.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.8266C>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	0.303	-0.972442	0.02215	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.77098	-1.03;-1.03;-1.07;-1.07;-1.05;-1.03;-1.03;-1.03;-1.03	3.8	1.69	0.24217	.	0.530341	0.16799	U	0.199041	T	0.51346	0.1669	N	0.02539	-0.55	0.09310	N	1	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.0;0.001;0.001;0.001;0.001	T	0.42766	-0.9432	10	0.28530	T	0.3	.	11.2299	0.48905	0.0:0.0:0.5587:0.4413	.	2646;2605;2597;2756;2587;2619;2623;2619	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	2619;2623;2619;2587;2756;2597;2605;2646;2642	ENSP00000344848:Q2619K;ENSP00000350277:Q2623K;ENSP00000346602:Q2619K;ENSP00000381756:Q2587K;ENSP00000323856:Q2756K;ENSP00000347044:Q2597K;ENSP00000348702:Q2605K;ENSP00000388180:Q2646K;ENSP00000434583:Q2642K	ENSP00000323856:Q2756K	Q	-	1	0	PLEC	145068122	0.217000	0.23597	0.077000	0.20336	0.002000	0.02628	2.078000	0.41567	0.865000	0.35603	0.448000	0.29417	CAG		0.682	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		20	34	1	0	3.52e-12	5.95e-12	20	34				
BNC2	54796	broad.mit.edu	37	9	16437438	16437438	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:16437438C>T	ENST00000380672.4	-	6	811	c.754G>A	c.(754-756)Gga>Aga	p.G252R	BNC2_ENST00000545497.1_Missense_Mutation_p.G157R|BNC2_ENST00000380667.2_Missense_Mutation_p.G185R|BNC2_ENST00000380666.2_Missense_Mutation_p.G252R	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TTGGTTTCTCCAAACCGCAGA	0.502																																						uc003zml.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(754-756)GGA>AGA		basonuclin 2							64.0	67.0	66.0					9																	16437438		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16437438C>T	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.754G>A	9.37:g.16437438C>T	ENSP00000370047:p.Gly252Arg					BNC2_uc011lmw.1_Missense_Mutation_p.G157R|BNC2_uc003zmm.2_Missense_Mutation_p.G210R|BNC2_uc003zmq.1_Missense_Mutation_p.G266R|BNC2_uc003zmr.1_Missense_Mutation_p.G289R|BNC2_uc003zmp.1_Missense_Mutation_p.G280R|BNC2_uc010mij.1_Missense_Mutation_p.G174R|BNC2_uc011lmv.1_Missense_Mutation_p.G78R|BNC2_uc003zmo.1_Missense_Mutation_p.G174R|BNC2_uc003zmj.2_Missense_Mutation_p.G17R|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.G17R|BNC2_uc003zmn.1_Missense_Mutation_p.G17R	p.G252R	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	894	-			252						Missense_Mutation	SNP	ENST00000380672.4	37	c.754G>A	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003694	0.74932	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000456672;ENST00000436939;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.03663	3.85;3.85;3.85;3.85;3.85	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.19248	0.0462	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.991;0.999;1.0;0.999;0.999;0.998;0.994;0.991;0.998	T	0.00002	-1.2633	10	0.87932	D	0	-15.6626	20.2697	0.98465	0.0:1.0:0.0:0.0	.	157;185;289;252;78;252;210;252;157;17	F5H586;B1APH0;Q06HC4;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;.;BNC2_HUMAN;.;.	R	252;209;289;280;185;157;78;252;252	ENSP00000370047:G252R;ENSP00000408370:G209R;ENSP00000370042:G185R;ENSP00000444640:G157R;ENSP00000370041:G252R	ENSP00000370041:G252R	G	-	1	0	BNC2	16427438	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	GGA		0.502	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		23	65	0	0	0	0	23	65				
PLAA	9373	broad.mit.edu	37	9	26925866	26925866	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:26925866A>G	ENST00000397292.3	-	6	1243	c.826T>C	c.(826-828)Tgc>Cgc	p.C276R	PLAA_ENST00000520884.1_Missense_Mutation_p.C276R	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	276					inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		ACACAGCAGCACCATATAGAC	0.418																																					Melanoma(175;2670 2735 14091 35526)	uc003zqd.2		NA																	0					0						c.(826-828)TGC>CGC		phospholipase A2-activating protein							187.0	151.0	163.0					9																	26925866		2203	4300	6503	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26925866A>G	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.826T>C	9.37:g.26925866A>G	ENSP00000380460:p.Cys276Arg					PLAA_uc003zqe.2_Missense_Mutation_p.C276R	p.C276R	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	6	1251	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	276			WD 7.		Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.826T>C	CCDS35000.1	.	.	.	.	.	.	.	.	.	.	A	19.49	3.838265	0.71373	.	.	ENSG00000137055	ENST00000397292;ENST00000520884	T;T	0.19394	2.15;2.15	4.31	4.31	0.51392	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.23649	0.0572	M	0.66506	2.035	0.80722	D	1	P;P	0.45902	0.868;0.788	B;B	0.39068	0.289;0.272	T	0.07347	-1.0777	10	0.41790	T	0.15	-3.7319	13.7639	0.62983	1.0:0.0:0.0:0.0	.	276;276	E5RIM3;Q9Y263	.;PLAP_HUMAN	R	276	ENSP00000380460:C276R;ENSP00000429372:C276R	ENSP00000380460:C276R	C	-	1	0	PLAA	26915866	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.505000	0.66981	1.720000	0.51447	0.477000	0.44152	TGC		0.418	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		21	13	0	0	0	0	21	13				
DDX58	23586	broad.mit.edu	37	9	32493895	32493895	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:32493895T>G	ENST00000379883.2	-	3	444	c.287A>C	c.(286-288)aAa>aCa	p.K96T	DDX58_ENST00000379882.1_Missense_Mutation_p.K51T|DDX58_ENST00000542096.1_Missense_Mutation_p.K25T|DDX58_ENST00000545044.1_5'UTR|DDX58_ENST00000379868.1_5'UTR	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	96	CARD 2.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		CTTTTCAATTTTTTTGAAATC	0.294																																						uc003zra.2		NA																	0				ovary(2)|liver(1)|pancreas(1)	4						c.(286-288)AAA>ACA		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide							37.0	40.0	39.0					9																	32493895		2197	4293	6490	SO:0001583	missense	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32493895T>G	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.287A>C	9.37:g.32493895T>G	ENSP00000369213:p.Lys96Thr					DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Missense_Mutation_p.K51T|DDX58_uc011lnr.1_5'UTR|DDX58_uc010mji.2_Missense_Mutation_p.K25T	p.K96T	NM_014314	NP_055129	O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	3	445	-			96			CARD 2.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	c.287A>C	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	T	13.12	2.143468	0.37825	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000542096;ENST00000542960	T;T;T	0.06218	3.46;3.5;3.33	4.06	2.9	0.33743	.	0.505078	0.16488	N	0.212251	T	0.08179	0.0204	M	0.73962	2.25	0.80722	D	1	P;P;P	0.43352	0.804;0.704;0.704	B;B;B	0.36464	0.225;0.122;0.122	T	0.12528	-1.0544	10	0.54805	T	0.06	-9.7571	6.2617	0.20903	0.1577:0.0:0.1633:0.679	.	51;25;96	O95786-2;B3KWW1;O95786	.;.;DDX58_HUMAN	T	51;96;25;96	ENSP00000369212:K51T;ENSP00000369213:K96T;ENSP00000442160:K25T	ENSP00000369212:K51T	K	-	2	0	DDX58	32483895	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	2.395000	0.44459	0.880000	0.35969	0.528000	0.53228	AAA		0.294	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		19	5	0	0	0	0	19	5				
APBA1	320	broad.mit.edu	37	9	72073080	72073080	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:72073080T>C	ENST00000265381.4	-	6	1729	c.1507A>G	c.(1507-1509)Agg>Ggg	p.R503G	APBA1_ENST00000470082.1_Intron	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	503	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ACCTTCTTCCTGCTTTTGGCT	0.368																																						uc004ahh.2		NA																	0				lung(1)	1						c.(1507-1509)AGG>GGG		amyloid beta A4 precursor protein-binding,							260.0	222.0	235.0					9																	72073080		2203	4300	6503	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72073080T>C	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1507A>G	9.37:g.72073080T>C	ENSP00000265381:p.Arg503Gly						p.R503G	NM_001163	NP_001154	Q02410	APBA1_HUMAN			6	1783	-			503			PID.		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.1507A>G	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.628376	0.67015	.	.	ENSG00000107282	ENST00000265381	T	0.55588	0.51	5.75	5.75	0.90469	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.098803	0.64402	D	0.000002	T	0.58366	0.2117	L	0.58101	1.795	0.80722	D	1	P	0.42078	0.77	P	0.45998	0.5	T	0.61287	-0.7093	10	0.56958	D	0.05	-15.4723	16.0449	0.80714	0.0:0.0:0.0:1.0	.	503	Q02410	APBA1_HUMAN	G	503	ENSP00000265381:R503G	ENSP00000265381:R503G	R	-	1	2	APBA1	71262900	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.832000	0.86757	2.188000	0.69820	0.533000	0.62120	AGG		0.368	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		8	54	0	0	0	0	8	54				
DAPK1	1612	broad.mit.edu	37	9	90321930	90321930	+	Missense_Mutation	SNP	G	G	A	rs368364961		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:90321930G>A	ENST00000408954.3	+	26	4279	c.3944G>A	c.(3943-3945)cGc>cAc	p.R1315H	DAPK1_ENST00000491893.1_Missense_Mutation_p.R1249H|DAPK1_ENST00000472284.1_Missense_Mutation_p.R1315H|DAPK1_ENST00000358077.5_Missense_Mutation_p.R1315H|DAPK1_ENST00000469640.2_Missense_Mutation_p.R1340H	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1315	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AAACTGAGTCGCCTGCTGGAC	0.597									Chronic Lymphocytic Leukemia, Familial Clustering of																													uc004apc.2		NA																	0				ovary(1)|breast(1)	2						c.(3943-3945)CGC>CAC		death-associated protein kinase 1		G	HIS/ARG	0,4178		0,0,2089	52.0	62.0	59.0		3944	5.3	1.0	9		59	1,8379		0,1,4189	no	missense	DAPK1	NM_004938.2	29	0,1,6278	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging	1315/1431	90321930	1,12557	2089	4190	6279	SO:0001583	missense	1612	Chronic_Lymphocytic_Leukemia_Familial_Clustering_of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90321930G>A	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.3944G>A	9.37:g.90321930G>A	ENSP00000386135:p.Arg1315His					DAPK1_uc004apd.2_Missense_Mutation_p.R1315H|DAPK1_uc011ltg.1_Missense_Mutation_p.R1249H|DAPK1_uc011lth.1_Missense_Mutation_p.R1052H|DAPK1_uc004apg.2_Missense_Mutation_p.R292H	p.R1315H	NM_004938	NP_004929	P53355	DAPK1_HUMAN			26	4082	+			1315			Death.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.3944G>A	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153868	0.78114	0.0	1.19E-4	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09	6.17	5.27	0.74061	Death (3);DEATH-like (2);	0.000000	0.52532	D	0.000074	D	0.92532	0.7628	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.69824	0.966;0.882;0.966	D	0.93178	0.6572	10	0.66056	D	0.02	.	17.0333	0.86467	0.0:0.0:0.8716:0.1283	.	1249;1315;1315	B7ZLE7;P53355-3;P53355	.;.;DAPK1_HUMAN	H	1315;1315;1340;1315;1249	ENSP00000350785:R1315H;ENSP00000417076:R1315H;ENSP00000418885:R1340H;ENSP00000386135:R1315H;ENSP00000419026:R1249H	ENSP00000350785:R1315H	R	+	2	0	DAPK1	89511750	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	9.845000	0.99498	1.613000	0.50231	0.655000	0.94253	CGC		0.597	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		44	66	0	0	0	0	44	66				
SPATA31C1	441452	broad.mit.edu	37	9	90535519	90535519	+	RNA	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:90535519C>A	ENST00000602681.1	+	0	1423							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCCACCTCCTCCGAAAGGCTT	0.587																																						uc010mqi.2		NA																	0					0						c.(697-699)CCG>ACG		family with sequence similarity 75, member C1							86.0	71.0	75.0					9																	90535519		692	1591	2283			441452							g.chr9:90535519C>A	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535519C>A						FAM75C1_uc004apq.3_Missense_Mutation_p.P216T	p.P233T	NM_001145124	NP_001138596					4	726	+									Missense_Mutation	SNP	ENST00000602681.1	37	c.697C>A																																																																																					0.587	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		149	231	1	0	8.49e-55	1.63e-54	149	231				
CCDC180	100499483	broad.mit.edu	37	9	100070394	100070394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:100070394C>T	ENST00000357054.1	+	16	1533	c.598C>T	c.(598-600)Cag>Tag	p.Q200*	CCDC180_ENST00000395220.1_Nonsense_Mutation_p.Q200*|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Nonsense_Mutation_p.Q61*|CCDC180_ENST00000375202.2_Nonsense_Mutation_p.Q61*|CCDC180_ENST00000411667.2_Nonsense_Mutation_p.Q61*|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	200						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GAAAGCCTACCAGCAGATCTT	0.617																																						uc011lut.1		NA																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(598-600)CAG>TAG		hypothetical protein LOC57653							55.0	49.0	51.0					9																	100070394		2203	4300	6503	SO:0001587	stop_gained	57653							g.chr9:100070394C>T	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.598C>T	9.37:g.100070394C>T	ENSP00000349562:p.Gln200*					KIAA1529_uc004axe.1_Nonsense_Mutation_p.Q200*|KIAA1529_uc004axg.1_Nonsense_Mutation_p.Q61*|KIAA1529_uc011lus.1_Nonsense_Mutation_p.Q61*|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Nonsense_Mutation_p.Q61*|KIAA1529_uc011luv.1_Nonsense_Mutation_p.Q61*	p.Q200*	NM_020893	NP_065944					14	1371	+		Acute lymphoblastic leukemia(62;0.154)						Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Nonsense_Mutation	SNP	ENST00000357054.1	37	c.598C>T		.	.	.	.	.	.	.	.	.	.	C	45	11.789602	0.99603	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	.	.	.	5.32	4.31	0.51392	.	0.177407	0.27563	N	0.018807	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-15.3659	9.9686	0.41741	0.2484:0.7516:0.0:0.0	.	.	.	.	X	200;200;61;61;84;61	.	ENSP00000349562:Q200X	Q	+	1	0	C9orf174	99110215	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	0.775000	0.26689	2.681000	0.91329	0.561000	0.74099	CAG		0.617	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		30	47	0	0	0	0	30	47				
RNF20	56254	broad.mit.edu	37	9	104314536	104314536	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:104314536C>G	ENST00000389120.3	+	12	1612	c.1522C>G	c.(1522-1524)Ctg>Gtg	p.L508V	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	508					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CCAGTCTGACCTGAACAAGGT	0.443																																						uc004bbn.2		NA																	0				ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8						c.(1522-1524)CTG>GTG		ring finger protein 20							123.0	125.0	124.0					9																	104314536		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104314536C>G	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1522C>G	9.37:g.104314536C>G	ENSP00000373772:p.Leu508Val						p.L508V	NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	12	1612	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	508			Potential.		A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.1522C>G	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.505971	0.26949	.	.	ENSG00000155827	ENST00000389120	T	0.34667	1.35	6.17	-0.144	0.13440	.	0.063724	0.64402	D	0.000005	T	0.21427	0.0516	L	0.46157	1.445	0.42422	D	0.992649	P	0.37955	0.612	B	0.31614	0.133	T	0.10268	-1.0637	10	0.16420	T	0.52	-11.369	7.1052	0.25360	0.1174:0.334:0.0:0.5487	.	508	Q5VTR2	BRE1A_HUMAN	V	508	ENSP00000373772:L508V	ENSP00000373772:L508V	L	+	1	2	RNF20	103354357	0.845000	0.29573	0.990000	0.47175	0.963000	0.63663	0.083000	0.14871	-0.052000	0.13311	-0.794000	0.03295	CTG		0.443	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		26	116	0	0	0	0	26	116				
OR13C2	392376	broad.mit.edu	37	9	107367190	107367190	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:107367190G>C	ENST00000542196.1	-	1	761	c.719C>G	c.(718-720)aCc>aGc	p.T240S		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GGCTGAACAGGTAGAGGAAGC	0.403																																						uc011lvq.1		NA																	0				skin(1)	1						c.(718-720)ACC>AGC		olfactory receptor, family 13, subfamily C,							108.0	102.0	104.0					9																	107367190		2201	4300	6501	SO:0001583	missense	392376				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107367190G>C		CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.719C>G	9.37:g.107367190G>C	ENSP00000438815:p.Thr240Ser						p.T240S	NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN			1	719	-			240			Helical; Name=6; (Potential).		B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	37	c.719C>G	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.341700	0.41498	.	.	ENSG00000257019	ENST00000542196	T	0.40476	1.03	3.41	3.41	0.39046	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36893	U	0.002358	T	0.71264	0.3319	H	0.94964	3.605	0.33205	D	0.552644	D	0.71674	0.998	D	0.79108	0.992	D	0.83753	0.0210	10	0.87932	D	0	.	12.3439	0.55109	0.0:0.0:1.0:0.0	.	240	Q8NGS9	O13C2_HUMAN	S	240	ENSP00000438815:T240S	ENSP00000438815:T240S	T	-	2	0	OR13C2	106407011	1.000000	0.71417	0.554000	0.28268	0.108000	0.19459	7.446000	0.80609	1.741000	0.51731	0.313000	0.20887	ACC		0.403	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		21	90	0	0	0	0	21	90				
ZNF462	58499	broad.mit.edu	37	9	109687822	109687822	+	Silent	SNP	G	G	C	rs566923526		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:109687822G>C	ENST00000277225.5	+	3	1918	c.1629G>C	c.(1627-1629)ccG>ccC	p.P543P	ZNF462_ENST00000457913.1_Silent_p.P543P|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	543					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AACAGccaccgcagccaccac	0.592																																						uc004bcz.2		NA																	0				ovary(5)	5						c.(1627-1629)CCG>CCC		zinc finger protein 462							56.0	53.0	54.0					9																	109687822		2203	4300	6503	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109687822G>C	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.1629G>C	9.37:g.109687822G>C						ZNF462_uc010mto.2_Silent_p.P391P|ZNF462_uc004bda.2_Silent_p.P391P	p.P543P	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			3	1918	+			543					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.1629G>C	CCDS35096.1																																																																																				0.592	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		5	32	0	0	0	0	5	32				
ZNF462	58499	broad.mit.edu	37	9	109691031	109691031	+	Missense_Mutation	SNP	C	C	T	rs550408928		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:109691031C>T	ENST00000277225.5	+	3	5127	c.4838C>T	c.(4837-4839)cCg>cTg	p.P1613L	ZNF462_ENST00000457913.1_Missense_Mutation_p.P1613L|ZNF462_ENST00000441147.2_Missense_Mutation_p.P458L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1613					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P1613L(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CAGTCGCCCCCGAAGCTGCCA	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		19442	0.0		0.0	False		,,,				2504	0.001					uc004bcz.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(5)	5						c.(4837-4839)CCG>CTG		zinc finger protein 462							78.0	79.0	79.0					9																	109691031		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109691031C>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.4838C>T	9.37:g.109691031C>T	ENSP00000277225:p.Pro1613Leu					ZNF462_uc010mto.2_Missense_Mutation_p.P1461L|ZNF462_uc004bda.2_Missense_Mutation_p.P1461L	p.P1613L	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			3	5127	+			1613					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.4838C>T	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861094	0.51482	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.05513	3.43;3.82;4.03;4.03	5.92	5.92	0.95590	.	0.109676	0.64402	D	0.000006	T	0.08891	0.0220	N	0.24115	0.695	0.80722	D	1	P;D	0.57899	0.68;0.981	B;P	0.47603	0.119;0.551	T	0.29150	-1.0021	10	0.33141	T	0.24	.	19.9318	0.97122	0.0:1.0:0.0:0.0	.	1613;1613	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	L	1613;1613;496;458	ENSP00000277225:P1613L;ENSP00000414570:P1613L;ENSP00000363818:P496L;ENSP00000397306:P458L	ENSP00000277225:P1613L	P	+	2	0	ZNF462	108730852	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.484000	0.60271	2.804000	0.96469	0.655000	0.94253	CCG		0.537	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		24	123	0	0	0	0	24	123				
CTNNAL1	8727	broad.mit.edu	37	9	111735078	111735078	+	Silent	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:111735078T>C	ENST00000325551.4	-	9	1310	c.1224A>G	c.(1222-1224)ctA>ctG	p.L408L	CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000325580.6_Intron|CTNNAL1_ENST00000374595.4_Silent_p.L408L	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	408					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GGTATTTTAATAGATCTGCTG	0.453																																						uc004bdo.1		NA																	0				ovary(1)	1						c.(1222-1224)CTA>CTG		catenin, alpha-like 1							80.0	79.0	80.0					9																	111735078		2203	4300	6503	SO:0001819	synonymous_variant	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111735078T>C	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1224A>G	9.37:g.111735078T>C						CTNNAL1_uc010mts.1_Intron|CTNNAL1_uc010mtt.1_Silent_p.L408L|CTNNAL1_uc004bdp.1_Silent_p.L408L|CTNNAL1_uc004bdq.1_5'UTR	p.L408L	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	9	1266	-			408					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Silent	SNP	ENST00000325551.4	37	c.1224A>G	CCDS6775.1																																																																																				0.453	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		27	69	0	0	0	0	27	69				
ZNF883	169834	broad.mit.edu	37	9	115760475	115760475	+	lincRNA	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:115760475T>C	ENST00000427548.1	-	0	1338							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AAGACAAGTGTAGCCTTTCCC	0.368																																						uc011lwy.1		NA																	0					0						c.(64-66)TAC>TGC		hypothetical protein LOC169834							74.0	75.0	75.0					9																	115760475		1961	4163	6124			169834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:115760475T>C	AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115760475T>C							p.Y22C	NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN			5	1304	-			22			C2H2-type 1.			Missense_Mutation	SNP	ENST00000427548.1	37	c.65A>G																																																																																					0.368	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	NM_001101338		42	67	0	0	0	0	42	67				
TLR4	7099	broad.mit.edu	37	9	120476305	120476305	+	Silent	SNP	C	C	T	rs140661916		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:120476305C>T	ENST00000355622.6	+	3	2000	c.1899C>T	c.(1897-1899)atC>atT	p.I633I	TLR4_ENST00000394487.4_Silent_p.I593I|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	633					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|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 interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	ATAAGACCATCATTGGTGTGT	0.438																																						uc004bjz.2		NA																	0				lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(1897-1899)ATC>ATT		toll-like receptor 4 precursor							195.0	161.0	173.0					9																	120476305		2203	4300	6503	SO:0001819	synonymous_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120476305C>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1899C>T	9.37:g.120476305C>T						TLR4_uc004bka.2_Silent_p.I593I|TLR4_uc004bkb.2_Silent_p.I433I	p.I633I	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	2190	+			633			Helical; (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.1899C>T	CCDS6818.1																																																																																				0.438	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		6	35	0	0	0	0	6	35				
VAV2	7410	broad.mit.edu	37	9	136635537	136635537	+	Silent	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:136635537C>A	ENST00000371850.3	-	27	2341	c.2310G>T	c.(2308-2310)cgG>cgT	p.R770R	VAV2_ENST00000371851.1_Silent_p.R760R|VAV2_ENST00000406606.3_Silent_p.R760R	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	770					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CCGAACGTTCCCGGGACTTGT	0.647																																						uc004ces.2		NA																	0				central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						c.(2308-2310)CGG>CGT		vav 2 guanine nucleotide exchange factor isoform							124.0	100.0	108.0					9																	136635537		2203	4300	6503	SO:0001819	synonymous_variant	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136635537C>A		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.2310G>T	9.37:g.136635537C>A						VAV2_uc004cer.2_Silent_p.R760R|VAV2_uc004cet.1_Silent_p.R309R	p.R770R	NM_001134398	NP_001127870	P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	27	2356	-			770					A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Silent	SNP	ENST00000371850.3	37	c.2310G>T	CCDS48053.1																																																																																				0.647	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			12	74	1	0	1.09e-07	1.69e-07	12	74				
SNAPC4	6621	broad.mit.edu	37	9	139290116	139290116	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:139290116T>A	ENST00000298532.2	-	3	652	c.284A>T	c.(283-285)gAg>gTg	p.E95V		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CTGGATGACCTCCTGGTAGAC	0.632																																						uc004chh.2		NA																	0					0						c.(283-285)GAG>GTG		small nuclear RNA activating complex,							119.0	127.0	124.0					9																	139290116		2203	4300	6503	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139290116T>A	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.284A>T	9.37:g.139290116T>A	ENSP00000298532:p.Glu95Val						p.E95V	NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	3	293	-		Myeloproliferative disorder(178;0.0511)	95			SNAPC5-binding.			Missense_Mutation	SNP	ENST00000298532.2	37	c.284A>T	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.896399	0.72639	.	.	ENSG00000165684	ENST00000298532	T	0.30448	1.53	5.29	4.13	0.48395	.	0.486685	0.21015	N	0.081603	T	0.43897	0.1268	M	0.69823	2.125	0.35381	D	0.789908	D	0.58620	0.983	P	0.55545	0.778	T	0.56745	-0.7928	10	0.72032	D	0.01	-21.7658	7.053	0.25083	0.1477:0.0:0.1545:0.6978	.	95	Q5SXM2	SNPC4_HUMAN	V	95	ENSP00000298532:E95V	ENSP00000298532:E95V	E	-	2	0	SNAPC4	138409937	1.000000	0.71417	0.998000	0.56505	0.890000	0.51754	3.851000	0.55926	0.819000	0.34492	0.533000	0.62120	GAG		0.632	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		88	152	0	0	0	0	88	152				
PNPLA7	375775	broad.mit.edu	37	9	140357226	140357226	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:140357226C>A	ENST00000277531.4	-	29	3514	c.3328G>T	c.(3328-3330)Gat>Tat	p.D1110Y	PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Missense_Mutation_p.D716Y|PNPLA7_ENST00000406427.1_Missense_Mutation_p.D1135Y	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1110					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCCGTCTCATCTCGGCTGCCC	0.617																																						uc004cnf.2		NA																	0				skin(1)	1						c.(3328-3330)GAT>TAT		patatin-like phospholipase domain containing 7							171.0	129.0	143.0					9																	140357226		2203	4300	6503	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140357226C>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3328G>T	9.37:g.140357226C>A	ENSP00000277531:p.Asp1110Tyr					C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Missense_Mutation_p.D376Y|PNPLA7_uc004cne.1_Missense_Mutation_p.D376Y|PNPLA7_uc011mfa.1_Missense_Mutation_p.D518Y|PNPLA7_uc010ncj.1_Missense_Mutation_p.D1135Y	p.D1110Y	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	29	3665	-	all_cancers(76;0.126)		1110					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.3328G>T	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897688	0.52121	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29	4.54	4.54	0.55810	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.050581	0.85682	D	0.000000	T	0.66426	0.2788	M	0.89095	3.005	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.483	D;D;D;B	0.85130	0.982;0.997;0.997;0.248	T	0.74408	-0.3675	10	0.62326	D	0.03	-21.2041	16.6323	0.85037	0.0:1.0:0.0:0.0	.	518;1135;1110;376	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	Y	716;518;1110;1135;1110;1101	ENSP00000360512:D716Y;ENSP00000360501:D518Y;ENSP00000277531:D1110Y;ENSP00000384610:D1135Y;ENSP00000400582:D1101Y	ENSP00000277531:D1110Y	D	-	1	0	PNPLA7	139477047	0.997000	0.39634	0.929000	0.37066	0.221000	0.24807	3.668000	0.54554	2.236000	0.73375	0.549000	0.68633	GAT		0.617	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		29	60	1	0	2.68e-12	4.55e-12	29	60				
MAGEB4	4115	broad.mit.edu	37	X	30261232	30261232	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:30261232C>T	ENST00000378982.2	+	1	1176	c.980C>T	c.(979-981)aCt>aTt	p.T327I	MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	327										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						AGGCGTGGCACTACAGCCATG	0.517																																						uc004dcb.2		NA																	0				ovary(1)	1						c.(979-981)ACT>ATT		melanoma antigen family B, 4							51.0	43.0	46.0					X																	30261232		2202	4300	6502	SO:0001583	missense	4115							g.chrX:30261232C>T		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.980C>T	X.37:g.30261232C>T	ENSP00000368266:p.Thr327Ile					MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	p.T327I	NM_002367	NP_002358	O15481	MAGB4_HUMAN			1	1064	+			327					B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	c.980C>T	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	C	8.378	0.836957	0.16891	.	.	ENSG00000120289	ENST00000378982	T	0.01821	4.62	3.27	2.37	0.29283	.	.	.	.	.	T	0.02083	0.0065	L	0.52759	1.655	0.09310	N	1	P	0.50617	0.937	B	0.40410	0.328	T	0.50346	-0.8839	9	0.32370	T	0.25	.	6.7969	0.23731	0.2776:0.7224:0.0:0.0	.	327	O15481	MAGB4_HUMAN	I	327	ENSP00000368266:T327I	ENSP00000368266:T327I	T	+	2	0	MAGEB4	30171153	0.000000	0.05858	0.006000	0.13384	0.005000	0.04900	0.096000	0.15147	0.727000	0.32360	0.600000	0.82982	ACT		0.517	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		14	69	0	0	0	0	14	69				
MSN	4478	broad.mit.edu	37	X	64959704	64959704	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:64959704G>T	ENST00000360270.5	+	13	1855	c.1683G>T	c.(1681-1683)caG>caT	p.Q561H		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	561					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						CCCTGCGCCAGATCCGGCAGG	0.547			T	ALK	ALCL																																	uc004dwf.2		NA		Dom	yes		X	Xq11.2-q12	4478	T	moesin			L	ALK		ALCL	MSN/ALK(6)	0				haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						c.(1681-1683)CAG>CAT		moesin							126.0	100.0	108.0					X																	64959704		2203	4300	6503	SO:0001583	missense	4478				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	g.chrX:64959704G>T	M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.1683G>T	X.37:g.64959704G>T	ENSP00000353408:p.Gln561His						p.Q561H	NM_002444	NP_002435	P26038	MOES_HUMAN			13	1881	+			561						Missense_Mutation	SNP	ENST00000360270.5	37	c.1683G>T	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758861	0.69763	.	.	ENSG00000147065	ENST00000360270	D	0.83506	-1.73	5.67	0.853	0.19001	Moesin (1);Ezrin/radixin/moesin, C-terminal (1);	0.050126	0.85682	D	0.000000	D	0.90270	0.6957	M	0.88570	2.965	0.80722	D	1	D	0.64830	0.994	D	0.69479	0.964	D	0.88373	0.2996	10	0.72032	D	0.01	.	10.0499	0.42210	0.3444:0.0:0.6556:0.0	.	561	P26038	MOES_HUMAN	H	561	ENSP00000353408:Q561H	ENSP00000353408:Q561H	Q	+	3	2	MSN	64876429	1.000000	0.71417	0.985000	0.45067	0.973000	0.67179	4.841000	0.62824	-0.289000	0.09038	-0.215000	0.12644	CAG		0.547	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444		24	27	1	0	1.18e-14	2.08e-14	24	27				
ARR3	407	broad.mit.edu	37	X	69502178	69502178	+	IGR	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:69502178G>T	ENST00000307959.8	+	0	1292				RAB41_ENST00000374473.2_Silent_p.L37L|RAB41_ENST00000276066.4_Silent_p.L37L	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)						endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						TCTTATTCCTGGGAGAGCAGA	0.557																																						uc004dyc.2		NA																	0				ovary(2)|breast(2)	4						c.(109-111)CTG>CTT		RAB41, member RAS oncogene family							88.0	70.0	77.0					X																	69502178		2203	4300	6503	SO:0001628	intergenic_variant	347517				protein transport|small GTPase mediated signal transduction		GTP binding	g.chrX:69502178G>T		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768		X.37:g.69502178G>T						RAB41_uc010nkv.2_Silent_p.L27L	p.L37L	NM_001032726	NP_001027898	Q5JT25	RAB41_HUMAN			1	111	+			37					B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Silent	SNP	ENST00000307959.8	37	c.111G>T	CCDS14399.1																																																																																				0.557	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		13	9	1	0	9.05e-12	1.52e-11	13	9				
LPAR4	2846	broad.mit.edu	37	X	78011270	78011270	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:78011270C>A	ENST00000435339.3	+	2	1290	c.904C>A	c.(904-906)Ctg>Atg	p.L302M		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	302					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CCTTGCAACTCTGAACTGTTG	0.423																																						uc010nme.2		NA																	0				ovary(3)	3						c.(904-906)CTG>ATG		lysophosphatidic acid receptor 4							203.0	161.0	176.0					X																	78011270		2203	4300	6503	SO:0001583	missense	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78011270C>A	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.904C>A	X.37:g.78011270C>A	ENSP00000408205:p.Leu302Met						p.L302M	NM_005296	NP_005287	Q99677	LPAR4_HUMAN			2	1309	+			302			Helical; Name=7; (Potential).		B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	c.904C>A	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	C	8.224	0.803062	0.16397	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.43688	0.94;0.94	3.99	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.261727	0.31697	U	0.007210	T	0.33760	0.0874	L	0.43701	1.375	0.28108	N	0.9311	B	0.30361	0.277	B	0.36989	0.238	T	0.20706	-1.0267	10	0.33141	T	0.24	.	5.4478	0.16546	0.1969:0.6937:0.0:0.1094	.	302	Q99677	LPAR4_HUMAN	M	302	ENSP00000408205:L302M;ENSP00000362398:L302M	ENSP00000362398:L302M	L	+	1	2	LPAR4	77897926	0.564000	0.26602	1.000000	0.80357	0.982000	0.71751	0.411000	0.21115	0.717000	0.32145	0.422000	0.28245	CTG		0.423	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		22	11	1	0	8.1e-08	1.27e-07	22	11				
CPXCR1	53336	broad.mit.edu	37	X	88009299	88009299	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:88009299C>A	ENST00000276127.4	+	3	1143	c.884C>A	c.(883-885)tCa>tAa	p.S295*	CPXCR1_ENST00000373111.1_Nonsense_Mutation_p.S295*	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	295							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						AGACAACATTCATGCAGCTCT	0.299																																						uc004efd.3		NA																	0				ovary(3)	3						c.(883-885)TCA>TAA		CPX chromosome region, candidate 1							38.0	38.0	38.0					X																	88009299		2194	4291	6485	SO:0001587	stop_gained	53336					intracellular	zinc ion binding	g.chrX:88009299C>A	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.884C>A	X.37:g.88009299C>A	ENSP00000276127:p.Ser295*					CPXCR1_uc004efc.3_Nonsense_Mutation_p.S295*	p.S295*	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN			3	1143	+			295					B2R9F9|D3DTE7|Q96RS3	Nonsense_Mutation	SNP	ENST00000276127.4	37	c.884C>A	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.544158	0.45280	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	.	.	.	3.42	2.56	0.30785	.	0.178360	0.27491	N	0.019129	.	.	.	.	.	.	0.21822	N	0.999521	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.0365	5.8886	0.18896	0.0:0.8518:0.0:0.1482	.	.	.	.	X	295	.	.	S	+	2	0	CPXCR1	87895955	0.255000	0.24002	0.265000	0.24526	0.012000	0.07955	0.124000	0.15728	0.828000	0.34709	0.594000	0.82650	TCA		0.299	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		16	2	1	0	2e-07	3.1e-07	16	2				
DIAPH2	1730	broad.mit.edu	37	X	96396710	96396710	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:96396710T>C	ENST00000324765.8	+	22	2983	c.2636T>C	c.(2635-2637)tTt>tCt	p.F879S	DIAPH2_ENST00000373054.4_Missense_Mutation_p.F875S|DIAPH2_ENST00000373049.4_Missense_Mutation_p.F879S|DIAPH2_ENST00000373061.3_Missense_Mutation_p.F879S|DIAPH2_ENST00000355827.4_Missense_Mutation_p.F879S			O60879	DIAP2_HUMAN	diaphanous-related formin 2	879	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CTTTTGCATTTTATTGCCGAC	0.308																																						uc004efu.3		NA																	0				ovary(3)|lung(1)	4						c.(2635-2637)TTT>TCT		diaphanous 2 isoform 156							67.0	60.0	62.0					X																	96396710		2203	4299	6502	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96396710T>C	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.2636T>C	X.37:g.96396710T>C	ENSP00000321348:p.Phe879Ser					DIAPH2_uc004eft.3_Missense_Mutation_p.F879S	p.F879S	NM_006729	NP_006720	O60879	DIAP2_HUMAN			22	3032	+			879			FH2.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.2636T>C	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	T	15.70	2.911616	0.52439	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08	5.46	5.46	0.80206	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.56396	0.1982	M	0.93062	3.375	0.52501	D	0.999956	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.68326	-0.5438	10	0.87932	D	0	.	14.5822	0.68300	0.0:0.0:0.0:1.0	.	879;879	O60879;O60879-2	DIAP2_HUMAN;.	S	879;875;879;879;879;886	ENSP00000362152:F879S;ENSP00000362145:F875S;ENSP00000348082:F879S;ENSP00000362140:F879S;ENSP00000321348:F879S	ENSP00000321348:F879S	F	+	2	0	DIAPH2	96283366	1.000000	0.71417	0.996000	0.52242	0.050000	0.14768	7.357000	0.79456	1.824000	0.53156	0.486000	0.48141	TTT		0.308	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		12	21	0	0	0	0	12	21				
PCDH19	57526	broad.mit.edu	37	X	99551562	99551562	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:99551562C>G	ENST00000373034.4	-	6	4835	c.3160G>C	c.(3160-3162)Gag>Cag	p.E1054Q	PCDH19_ENST00000420881.2_Missense_Mutation_p.E1006Q|PCDH19_ENST00000464981.1_5'Flank|PCDH19_ENST00000255531.7_Missense_Mutation_p.E1007Q	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1054					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TTGCCTGCCTCCCGGATAACG	0.597																																						uc010nmz.2		NA																	0				ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(3160-3162)GAG>CAG		protocadherin 19 isoform b							53.0	55.0	54.0					X																	99551562		2142	4234	6376	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99551562C>G	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.3160G>C	X.37:g.99551562C>G	ENSP00000362125:p.Glu1054Gln					PCDH19_uc004efw.3_Missense_Mutation_p.E1006Q|PCDH19_uc004efx.3_Missense_Mutation_p.E1007Q	p.E1054Q	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			6	4836	-			1054			Cytoplasmic (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.3160G>C	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841703	0.71488	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.57107	0.42;0.54;0.42	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.68540	0.3012	L	0.51422	1.61	0.80722	D	1	D;D;D	0.67145	0.993;0.996;0.993	D;P;P	0.72982	0.979;0.871;0.747	T	0.67417	-0.5676	10	0.46703	T	0.11	.	18.9069	0.92466	0.0:1.0:0.0:0.0	.	1054;1007;1006	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	Q	1006;1054;1007	ENSP00000400327:E1006Q;ENSP00000362125:E1054Q;ENSP00000255531:E1007Q	ENSP00000255531:E1007Q	E	-	1	0	PCDH19	99438218	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.184000	0.77705	2.413000	0.81919	0.600000	0.82982	GAG		0.597	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		32	31	0	0	0	0	32	31				
IRS4	8471	broad.mit.edu	37	X	107978532	107978532	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:107978532C>T	ENST00000372129.2	-	1	1119	c.1043G>A	c.(1042-1044)gGc>gAc	p.G348D	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	348					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CAGGTGGGCGCCGATGCTGAT	0.592																																						uc004eoc.2		NA																	0				ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(1042-1044)GGC>GAC		insulin receptor substrate 4							124.0	129.0	127.0					X																	107978532		2203	4300	6503	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107978532C>T	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1043G>A	X.37:g.107978532C>T	ENSP00000361202:p.Gly348Asp						p.G348D	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	1076	-			348						Missense_Mutation	SNP	ENST00000372129.2	37	c.1043G>A	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.350709	0.41599	.	.	ENSG00000133124	ENST00000372129	T	0.45668	0.89	3.72	3.72	0.42706	.	0.063204	0.64402	D	0.000009	T	0.46521	0.1397	L	0.32530	0.975	0.34834	D	0.740013	D	0.76494	0.999	P	0.61874	0.895	T	0.50591	-0.8810	10	0.17832	T	0.49	-12.0484	14.0099	0.64490	0.0:1.0:0.0:0.0	.	348	O14654	IRS4_HUMAN	D	348	ENSP00000361202:G348D	ENSP00000361202:G348D	G	-	2	0	IRS4	107865188	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.573000	0.60893	2.124000	0.65301	0.600000	0.82982	GGC		0.592	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		76	185	0	0	0	0	76	185				
AMOT	154796	broad.mit.edu	37	X	112054479	112054479	+	Missense_Mutation	SNP	C	C	A	rs373668134		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:112054479C>A	ENST00000524145.1	-	4	1609	c.1535G>T	c.(1534-1536)aGa>aTa	p.R512I	AMOT_ENST00000371962.1_Missense_Mutation_p.R280I|AMOT_ENST00000304758.1_Missense_Mutation_p.R103I|AMOT_ENST00000371958.1_Missense_Mutation_p.R280I|AMOT_ENST00000371959.3_Missense_Mutation_p.R512I			Q4VCS5	AMOT_HUMAN	angiomotin	512					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TCCCTCACCTCTCAGATCCCT	0.512																																						uc004epr.2		NA																	0				ovary(1)	1						c.(1534-1536)AGA>ATA		angiomotin isoform 1							246.0	209.0	221.0					X																	112054479		2203	4300	6503	SO:0001583	missense	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112054479C>A	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1535G>T	X.37:g.112054479C>A	ENSP00000429013:p.Arg512Ile					AMOT_uc004eps.2_Missense_Mutation_p.R103I|AMOT_uc004ept.1_Missense_Mutation_p.R512I	p.R512I	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN			3	1535	-			512			Potential.		Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	c.1535G>T	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166838	0.78339	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.53498	0.1800	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.56347	-0.7994	10	0.54805	T	0.06	-7.5713	18.3623	0.90379	0.0:1.0:0.0:0.0	.	512	Q4VCS5	AMOT_HUMAN	I	103;512;280;512;280	ENSP00000305557:R103I;ENSP00000361027:R512I;ENSP00000361030:R280I;ENSP00000429013:R512I;ENSP00000361026:R280I	ENSP00000305557:R103I	R	-	2	0	AMOT	111941135	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.818000	0.86416	2.562000	0.86427	0.600000	0.82982	AGA		0.512	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		86	77	1	0	6.12e-30	1.16e-29	86	77				
TENM1	10178	broad.mit.edu	37	X	123615699	123615699	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:123615699C>A	ENST00000371130.3	-	21	3874	c.3811G>T	c.(3811-3813)Gat>Tat	p.D1271Y	TENM1_ENST00000422452.2_Missense_Mutation_p.D1278Y|TENM1_ENST00000461429.1_5'UTR	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1271					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTGGACAGATCTTTCGTCTCC	0.458																																						uc004euj.2		NA																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(3811-3813)GAT>TAT		odz, odd Oz/ten-m homolog 1 isoform 3							152.0	126.0	135.0					X																	123615699		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123615699C>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3811G>T	X.37:g.123615699C>A	ENSP00000360171:p.Asp1271Tyr					ODZ1_uc011muj.1_Missense_Mutation_p.D1277Y|ODZ1_uc010nqy.2_Missense_Mutation_p.D1278Y	p.D1271Y	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			21	3875	-			1271			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.3811G>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405128	0.83230	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.93426	-3.22;-3.22	4.86	4.86	0.63082	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96331	0.8803	M	0.71206	2.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.991;0.987	D	0.97014	0.9738	10	0.87932	D	0	.	17.4266	0.87528	0.0:1.0:0.0:0.0	.	1277;1278;1271	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	Y	1271;1278	ENSP00000360171:D1271Y;ENSP00000403954:D1278Y	ENSP00000360171:D1271Y	D	-	1	0	ODZ1	123443380	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.032000	0.70918	2.128000	0.65567	0.600000	0.82982	GAT		0.458	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		53	44	1	0	2.43e-16	4.35e-16	53	44				
DCAF12L2	340578	broad.mit.edu	37	X	125299776	125299776	+	Silent	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:125299776C>T	ENST00000360028.2	-	1	158	c.132G>A	c.(130-132)cgG>cgA	p.R44R	DCAF12L2_ENST00000538699.1_Silent_p.R44R			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	44										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCGTCGCCGGCCGCTTCTGCT	0.731																																						uc004euk.1		NA																	0				lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						c.(130-132)CGG>CGA		DDB1 and CUL4 associated factor 12-like 2							12.0	15.0	14.0					X																	125299776		1816	3724	5540	SO:0001819	synonymous_variant	340578							g.chrX:125299776C>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.132G>A	X.37:g.125299776C>T							p.R44R	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			1	159	-			44					B2RN42	Silent	SNP	ENST00000360028.2	37	c.132G>A	CCDS43991.1																																																																																				0.731	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		44	3	0	0	0	0	44	3				
SASH3	54440	broad.mit.edu	37	X	128926745	128926745	+	Missense_Mutation	SNP	G	G	C	rs35096611	byFrequency	TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:128926745G>C	ENST00000356892.3	+	6	848	c.734G>C	c.(733-735)cGa>cCa	p.R245P	RP4-753P9.3_ENST00000432513.1_RNA	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	245					homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						CCCAGCCGCCGACAGAGCAAG	0.597																																						uc011mun.1		NA																	0				ovary(2)|pancreas(1)	3						c.(733-735)CGA>CCA		SAM and SH3 domain containing 3							35.0	37.0	36.0					X																	128926745		2203	4299	6502	SO:0001583	missense	54440							g.chrX:128926745G>C	BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	15975	protein-coding gene	gene with protein product		300441	"""chromosome X open reading frame 9"""	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.734G>C	X.37:g.128926745G>C	ENSP00000349359:p.Arg245Pro					SASH3_uc004euu.2_Missense_Mutation_p.R245P|SASH3_uc011muo.1_Missense_Mutation_p.R212P	p.R245P	NM_018990	NP_061863	O75995	SASH3_HUMAN			6	916	+			245					A6NCH1|A8K7K8|Q5JZ38	Missense_Mutation	SNP	ENST00000356892.3	37	c.734G>C	CCDS14614.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.431816	0.25813	.	.	ENSG00000122122	ENST00000443760;ENST00000356892	T	0.48836	0.8	5.26	4.27	0.50696	Src homology-3 domain (1);Sterile alpha motif/pointed domain (2);	0.443166	0.25634	N	0.029338	T	0.42154	0.1190	L	0.47190	1.495	0.38078	D	0.936592	P;P	0.50710	0.938;0.473	P;B	0.46320	0.512;0.174	T	0.31861	-0.9928	10	0.14252	T	0.57	-36.533	11.284	0.49212	0.1365:0.0:0.8635:0.0	.	263;245	B4DKQ0;O75995	.;SASH3_HUMAN	P	263;245	ENSP00000349359:R245P	ENSP00000349359:R245P	R	+	2	0	SASH3	128754426	0.159000	0.22864	1.000000	0.80357	0.987000	0.75469	2.532000	0.45659	2.209000	0.71365	0.529000	0.55759	CGA		0.597	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058208.1	NM_018990		51	9	0	0	0	0	51	9				
BCORL1	63035	broad.mit.edu	37	X	129149304	129149304	+	Silent	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:129149304G>T	ENST00000218147.7	+	4	2753	c.2556G>T	c.(2554-2556)ctG>ctT	p.L852L	BCORL1_ENST00000359304.2_Silent_p.L852L|BCORL1_ENST00000540052.1_Silent_p.L852L|BCORL1_ENST00000303743.5_Silent_p.L852L			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	852					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCGGGCAGCTGACCCCCAGTC	0.617																																						uc004evb.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.(2554-2556)CTG>CTT		BCL6 co-repressor-like 1							44.0	47.0	46.0					X																	129149304		2202	4292	6494	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129149304G>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2556G>T	X.37:g.129149304G>T						BCORL1_uc010nrd.1_Silent_p.L754L	p.L852L	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			4	2670	+			852					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.2556G>T	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	4.009	-0.000901	0.07819	.	.	ENSG00000085185	ENST00000441294	.	.	.	5.31	2.33	0.28932	.	.	.	.	.	T	0.53722	0.1814	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43147	-0.9409	4	.	.	.	-4.6938	5.9809	0.19407	0.165:0.2899:0.5451:0.0	.	.	.	.	Y	288	.	.	D	+	1	0	BCORL1	128976985	0.991000	0.36638	1.000000	0.80357	0.976000	0.68499	1.584000	0.36589	0.425000	0.26087	0.529000	0.55759	GAC		0.617	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		83	27	1	0	2.13e-38	4.07e-38	83	27				
SLITRK4	139065	broad.mit.edu	37	X	142716919	142716919	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:142716919C>T	ENST00000381779.4	-	2	2231	c.2006G>A	c.(2005-2007)aGg>aAg	p.R669K	SLITRK4_ENST00000338017.4_Missense_Mutation_p.R669K|SLITRK4_ENST00000356928.1_Missense_Mutation_p.R669K	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	669						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GTCATGCTTCCTTAGCTGCAG	0.473																																						uc004fbx.2		NA																	0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(2005-2007)AGG>AAG		slit and trk like 4 protein precursor							125.0	127.0	127.0					X																	142716919		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142716919C>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.2006G>A	X.37:g.142716919C>T	ENSP00000371198:p.Arg669Lys					SLITRK4_uc004fby.2_Missense_Mutation_p.R669K	p.R669K	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	2382	-	Acute lymphoblastic leukemia(192;6.56e-05)		669			Cytoplasmic (Potential).		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.2006G>A	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	7.005	0.555666	0.13436	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.51325	0.71;0.71;0.71	5.36	4.49	0.54785	.	0.296155	0.28317	U	0.015781	T	0.36853	0.0982	L	0.40543	1.245	0.44142	D	0.996935	B	0.22480	0.07	B	0.25291	0.059	T	0.10636	-1.0621	10	0.07990	T	0.79	-6.5181	13.1817	0.59657	0.1607:0.8393:0.0:0.0	.	669	Q8IW52	SLIK4_HUMAN	K	669	ENSP00000371198:R669K;ENSP00000349400:R669K;ENSP00000336627:R669K	ENSP00000336627:R669K	R	-	2	0	SLITRK4	142544585	1.000000	0.71417	0.086000	0.20670	0.985000	0.73830	5.700000	0.68318	1.005000	0.39183	0.513000	0.50165	AGG		0.473	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		40	138	0	0	0	0	40	138				
CNGA2	1260	broad.mit.edu	37	X	150912139	150912139	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:150912139G>T	ENST00000329903.4	+	6	1197	c.1164G>T	c.(1162-1164)aaG>aaT	p.K388N		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	388					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGGCTAAGATCGATGCCG	0.502																																						uc004fey.1		NA																	0				breast(3)	3						c.(1162-1164)AAG>AAT		cyclic nucleotide gated channel alpha 2							109.0	98.0	102.0					X																	150912139		2203	4300	6503	SO:0001583	missense	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150912139G>T	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1164G>T	X.37:g.150912139G>T	ENSP00000328478:p.Lys388Asn						p.K388N	NM_005140	NP_005131	Q16280	CNGA2_HUMAN			7	1388	+	Acute lymphoblastic leukemia(192;6.56e-05)		388			Extracellular (Potential).		A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.1164G>T	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.355128	0.24512	.	.	ENSG00000183862	ENST00000329903	D	0.96913	-4.17	4.96	3.19	0.36642	Cyclic nucleotide-binding-like (1);	0.058065	0.64402	D	0.000002	D	0.94341	0.8181	M	0.70275	2.135	0.36766	D	0.883555	P	0.43094	0.799	B	0.40901	0.343	D	0.92760	0.6223	10	0.72032	D	0.01	.	6.7651	0.23562	0.3045:0.0:0.6955:0.0	.	388	Q16280	CNGA2_HUMAN	N	388	ENSP00000328478:K388N	ENSP00000328478:K388N	K	+	3	2	CNGA2	150662795	0.993000	0.37304	0.991000	0.47740	0.842000	0.47809	0.282000	0.18829	0.445000	0.26639	0.529000	0.55759	AAG		0.502	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		17	77	1	0	1.57e-10	2.61e-10	17	77				
SMTNL1	219537	broad.mit.edu	37	11	57313764	57313764	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr11:57313764delG	ENST00000399154.2	+	6	1021	c.1021delG	c.(1021-1023)ggtfs	p.G342fs	SMTNL1_ENST00000527972.1_Frame_Shift_Del_p.G379fs|SMTNL1_ENST00000457912.1_Frame_Shift_Del_p.G397fs			A8MU46	SMTL1_HUMAN	smoothelin-like 1	342	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GGCAGCCATTGGTGGTGTCAA	0.637																																						uc009ymh.1		NA																	0				ovary(1)	1						c.(1186-1188)GGTfs		smoothelin-like 1							39.0	42.0	41.0					11																	57313764		1999	4144	6143	SO:0001589	frameshift_variant	219537							g.chr11:57313764delG	BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"""calponin homology-associated smooth muscle protein"""	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.1021delG	11.37:g.57313764delG	ENSP00000382108:p.Gly342fs						p.G396fs	NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN			6	1186	+			378						Frame_Shift_Del	DEL	ENST00000399154.2	37	c.1186delG																																																																																					0.637	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166203		8	10	NA	NA	NA	NA	8	10	---	---	---	---
CENPJ	55835	broad.mit.edu	37	13	25479525	25479525	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr13:25479525delC	ENST00000381884.4	-	7	2836	c.2651delG	c.(2650-2652)ggafs	p.G884fs	CENPJ_ENST00000545981.1_Frame_Shift_Del_p.G884fs	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	884					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GAGTTCATTTCCCAAGTGTGA	0.373																																						uc001upt.3		NA																	0				ovary(2)	2						c.(2650-2652)GGAfs		centromere protein J							92.0	95.0	94.0					13																	25479525		2203	4300	6503	SO:0001589	frameshift_variant	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25479525delC	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.2651delG	13.37:g.25479525delC	ENSP00000371308:p.Gly884fs					CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_5'Flank	p.G884fs	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	7	2904	-		Lung SC(185;0.0225)|Breast(139;0.0602)	884					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Frame_Shift_Del	DEL	ENST00000381884.4	37	c.2651delG	CCDS9310.1																																																																																				0.373	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		18	48	NA	NA	NA	NA	18	48	---	---	---	---
INSM1	3642	broad.mit.edu	37	20	20350324	20350325	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr20:20350324_20350325insA	ENST00000310227.1	+	1	1560_1561	c.1413_1414insA	c.(1414-1416)aagfs	p.K472fs		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	472					adrenal chromaffin cell differentiation (GO:0061104)|cell cycle (GO:0007049)|endocrine pancreas development (GO:0031018)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|noradrenergic neuron development (GO:0003358)|norepinephrine biosynthetic process (GO:0042421)|pancreatic A cell differentiation (GO:0003310)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of gene expression (GO:0010468)|regulation of protein complex assembly (GO:0043254)|sympathetic ganglion development (GO:0061549)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell differentiation (GO:0003309)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|cyclin binding (GO:0030332)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		TGTTCCCCTGCAAGTACTGCCC	0.658																																						uc002wrx.2		NA																	0				ovary(1)	1						c.(1411-1416)TGCAAGfs		insulinoma-associated 1																																				SO:0001589	frameshift_variant	3642				endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:20350324_20350325insA		CCDS13143.1	20p11.2	2012-07-10			ENSG00000173404	ENSG00000173404			6090	protein-coding gene	gene with protein product		600010				8188699, 16569215	Standard	NM_002196		Approved	IA-1, IA1	uc002wrx.3	Q01101	OTTHUMG00000032004	ENST00000310227.1:c.1415dupA	20.37:g.20350326_20350326dupA	ENSP00000312631:p.Lys472fs						p.C471fs	NM_002196	NP_002187	Q01101	INSM1_HUMAN		READ - Rectum adenocarcinoma(2;0.0649)	1	1560_1561	+			471_472			C2H2-type 5.			Frame_Shift_Ins	INS	ENST00000310227.1	37	c.1413_1414insA	CCDS13143.1																																																																																				0.658	INSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078223.1	NM_002196		10	51	NA	NA	NA	NA	10	51	---	---	---	---
ZCWPW2	152098	broad.mit.edu	37	3	28562532	28562532	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:28562532delG	ENST00000383768.2	+	9	1022	c.834delG	c.(832-834)cagfs	p.Q279fs	ZCWPW2_ENST00000421010.1_Frame_Shift_Del_p.Q279fs			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	279							zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						AAATGCTGCAGCAAGCACTGC	0.373																																						uc003ceh.2		NA																	0				ovary(2)	2						c.(832-834)CAGfs		zinc finger, CW type with PWWP domain 2							89.0	85.0	86.0					3																	28562532		2203	4300	6503	SO:0001589	frameshift_variant	152098						zinc ion binding	g.chr3:28562532delG	BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.834delG	3.37:g.28562532delG	ENSP00000373278:p.Gln279fs					ZCWPW2_uc003cei.2_Frame_Shift_Del_p.Q278fs|ZCWPW2_uc010hfo.2_Frame_Shift_Del_p.Q83fs	p.Q278fs	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN			9	1002	+			278						Frame_Shift_Del	DEL	ENST00000383768.2	37	c.834delG	CCDS33723.1																																																																																				0.373	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1	XM_087384		16	19	NA	NA	NA	NA	16	19	---	---	---	---
IQCJ	654502	broad.mit.edu	37	3	158980399	158980399	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr3:158980399delC	ENST00000451172.1	+	4	323	c.218delC	c.(217-219)tccfs	p.S73fs	IQCJ_ENST00000482126.1_Frame_Shift_Del_p.S46fs|IQCJ-SCHIP1_ENST00000467442.1_3'UTR|IQCJ-SCHIP1_ENST00000476809.1_Frame_Shift_Del_p.S46fs|IQCJ-SCHIP1_ENST00000485419.1_Frame_Shift_Del_p.S73fs|IQCJ_ENST00000481796.1_3'UTR|IQCJ_ENST00000397832.2_Frame_Shift_Del_p.S73fs	NM_001042705.2	NP_001036170.1	Q1A5X6	IQCJ_HUMAN	IQ motif containing J	73										cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			AGGAGCCCGTCCCCACCCTCT	0.522																																						uc003fcq.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(217-219)TCCfs		schwannomin interacting protein 1							82.0	89.0	87.0					3																	158980399		2014	4159	6173	SO:0001589	frameshift_variant	29970					cytoplasm	identical protein binding|protein binding	g.chr3:158980399delC	DQ309553, DQ309554	CCDS46946.1, CCDS46947.1, CCDS56290.1	3q25.32	2011-03-24			ENSG00000214216	ENSG00000214216			32406	protein-coding gene	gene with protein product		611622				17045569	Standard	NM_001042705		Approved			Q1A5X6	OTTHUMG00000166440	ENST00000451172.1:c.218delC	3.37:g.158980399delC	ENSP00000402153:p.Ser73fs					SCHIP1_uc003fcr.1_5'UTR|IQCJ_uc003fco.2_Frame_Shift_Del_p.S73fs|IQCJ_uc010hvy.1_Frame_Shift_Del_p.S46fs|IQCJ_uc003fcp.1_Frame_Shift_Del_p.S73fs	p.S73fs	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)		4	323	+			Error:Variant_position_missing_in_Q9P0W5_after_alignment					B7ZMM2|B9EH97|Q1A5X5	Frame_Shift_Del	DEL	ENST00000451172.1	37	c.218delC	CCDS46946.1																																																																																				0.522	IQCJ-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352395.1	NM_001042705.1		118	113	NA	NA	NA	NA	118	113	---	---	---	---
NUP155	9631	broad.mit.edu	37	5	37331833	37331833	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:37331833delA	ENST00000231498.3	-	14	1786	c.1583delT	c.(1582-1584)gtgfs	p.V528fs	NUP155_ENST00000381843.2_Frame_Shift_Del_p.V469fs|NUP155_ENST00000513532.1_Frame_Shift_Del_p.V528fs	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	528					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATCTCCTCCCACATTACTCAC	0.328																																						uc003jku.1		NA																	0				ovary(1)	1						c.(1582-1584)GTGfs		nucleoporin 155kDa isoform 1							92.0	91.0	91.0					5																	37331833		2203	4300	6503	SO:0001589	frameshift_variant	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37331833delA	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.1583delT	5.37:g.37331833delA	ENSP00000231498:p.Val528fs					NUP155_uc003jkt.1_Frame_Shift_Del_p.V469fs|NUP155_uc010iuz.1_Frame_Shift_Del_p.V528fs	p.V528fs	NM_153485	NP_705618	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		14	1701	-	all_lung(31;0.000137)		528					Q9UBE9|Q9UFL5	Frame_Shift_Del	DEL	ENST00000231498.3	37	c.1583delT	CCDS3921.1																																																																																				0.328	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		31	96	NA	NA	NA	NA	31	96	---	---	---	---
GABRA6	2559	broad.mit.edu	37	5	161115970	161115971	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr5:161115970_161115971insT	ENST00000274545.5	+	4	674_675	c.241_242insT	c.(241-243)gttfs	p.V81fs	GABRA6_ENST00000523217.1_Intron|RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000522269.1_3'UTR			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	81					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|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)	p.V81F(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TACGATGGATGTTTTTTTCCGC	0.401										TCGA Ovarian(5;0.080)																												uc003lyu.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(241-243)GTTfs		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)																																			SO:0001589	frameshift_variant	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161115970_161115971insT		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.248dupT	5.37:g.161115977_161115977dupT	ENSP00000274545:p.Val81fs	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_5'Flank	p.V81fs	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	579_580	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	81			Extracellular (Probable).		A8K096|Q4VAV2	Frame_Shift_Ins	INS	ENST00000274545.5	37	c.241_242insT	CCDS4356.1																																																																																				0.401	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			19	44	NA	NA	NA	NA	19	44	---	---	---	---
CRISP3	10321	broad.mit.edu	37	6	49698934	49698935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr6:49698934_49698935insG	ENST00000393666.1	-	6	557_558	c.551_552insC	c.(550-552)cctfs	p.P184fs	CRISP3_ENST00000423399.2_Frame_Shift_Ins_p.P94fs|CRISP3_ENST00000263045.4_Frame_Shift_Ins_p.P197fs|CRISP3_ENST00000371159.4_Frame_Shift_Ins_p.P215fs|CRISP3_ENST00000433368.2_Frame_Shift_Ins_p.P207fs			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	184					defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTTGTTCATAAGGGACATATAG	0.322																																						uc003ozs.2		NA																	0				skin(2)	2						c.(550-552)CCTfs		cysteine-rich secretory protein 3 precursor																																				SO:0001589	frameshift_variant	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49698934_49698935insG	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.552dupC	6.37:g.49698937_49698937dupG	ENSP00000377274:p.Pro184fs						p.P184fs	NM_006061	NP_006052	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		7	566_567	-	Lung NSC(77;0.0161)		184					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Frame_Shift_Ins	INS	ENST00000393666.1	37	c.551_552insC																																																																																					0.322	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		8	75	NA	NA	NA	NA	8	75	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21974763	21974763	+	Frame_Shift_Del	DEL	G	G	-	rs374921006		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:21974763delG	ENST00000304494.5	-	1	334	c.64delC	c.(64-66)cggfs	p.R22fs	CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.R22fs|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.R22fs|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.R22fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	22					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.0(1)|p.R22fs*14(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		ACCCGACCCCGGGCCGCGGCC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1341	Whole gene deletion(1316)|Unknown(23)|Deletion - Frameshift(2)	p.0?(1112)|p.?(23)|p.R22P(1)|p.R22fs*14(1)|p.S12fs*20(1)	haematopoietic_and_lymphoid_tissue(279)|skin(168)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(47)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678						c.(64-66)CGGfs		cyclin-dependent kinase inhibitor 2A isoform 1							14.0	19.0	17.0					9																	21974763		1863	3820	5683	SO:0001589	frameshift_variant	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21974763delG	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.64delC	9.37:g.21974763delG	ENSP00000307101:p.Arg22fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Frame_Shift_Del_p.R22fs|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	p.R22fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	276	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	22			ANK 1.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.64delC	CCDS6510.1																																																																																				0.736	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		25	30	NA	NA	NA	NA	25	30	---	---	---	---
ENTPD8	377841	broad.mit.edu	37	9	140329398	140329407	+	Frame_Shift_Del	DEL	CAGCCCCCAC	CAGCCCCCAC	-	rs373856302		TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chr9:140329398_140329407delCAGCCCCCAC	ENST00000472938.1	-	9	1463_1472	c.1447_1456delGTGGGGGCTG	c.(1447-1458)gtgggggctgccfs	p.VGAA483fs	ENTPD8_ENST00000371506.2_Frame_Shift_Del_p.VGAA483fs|ENTPD8_ENST00000344119.2_Frame_Shift_Del_p.VGAA446fs			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	483					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		TGGACCAAGGCAGCCCCCACCACCGCCACC	0.681																																						uc004cmw.2		NA																	0				skin(1)	1						c.(1447-1458)GTGGGGGCTGCCfs		ectonucleoside triphosphate diphosphohydrolase 8																																				SO:0001589	frameshift_variant	377841					integral to membrane|plasma membrane	ATP binding	g.chr9:140329398_140329407delCAGCCCCCAC	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.1447_1456delGTGGGGGCTG	9.37:g.140329398_140329407delCAGCCCCCAC	ENSP00000420531:p.Val483fs					C9orf167_uc011mew.1_Intron|ENTPD8_uc004cmx.2_Frame_Shift_Del_p.V446fs	p.V483fs	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)	10	1631_1640	-	all_cancers(76;0.0926)		483_486			Helical; (Potential).		A2BG17|Q6UVZ0	Frame_Shift_Del	DEL	ENST00000472938.1	37	c.1447_1456delGTGGGGGCTG	CCDS43913.1																																																																																				0.681	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		11	26	NA	NA	NA	NA	11	26	---	---	---	---
FAM120C	54954	broad.mit.edu	37	X	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:54209302_54209303insGGCGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCCGCC	c.(328-330)ccc>ccGCCGCCc	p.110_110P>PPP	FAM120C_ENST00000497680.1_5'Flank|FAM120C_ENST00000328235.4_In_Frame_Ins_p.110_110P>PPP|FAM120C_ENST00000477084.1_In_Frame_Ins_p.110_110P>PPP	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	110							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748														77	0.0203974	0.0045	0.0159	3775	,	,		9228	0.0		0.0467	False		,,,				2504	0.0133					uc004dsz.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(328-330)CCC>CCGCCGCCC		hypothetical protein LOC54954																																				SO:0001652	inframe_insertion	54954							g.chrX:54209302_54209303insGGCGGC	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.324_329dupGCCGCC	X.37:g.54209303_54209308dupGGCGGC	ENSP00000364324:p.ProPro110dup					FAM120C_uc011moh.1_In_Frame_Ins_p.110_110P>PPP|FAM120C_uc004dta.2_In_Frame_Ins_p.110_110P>PPP	p.110_110P>PPP	NM_017848	NP_060318	Q9NX05	F120C_HUMAN			1	412_413	-			110					B2RMT7	In_Frame_Ins	INS	ENST00000375180.2	37	c.329_330insGCCGCC	CCDS14356.1																																																																																				0.748	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		7	2	NA	NA	NA	NA	7	2	---	---	---	---
PCDH19	57526	broad.mit.edu	37	X	99551615	99551615	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7245-01A-11D-2012-08	TCGA-CV-7245-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	56291b3c-595c-4388-a264-9037a48401d8	081cec95-360f-4127-9fbc-e6bfd212c23f	g.chrX:99551615delT	ENST00000373034.4	-	6	4782	c.3107delA	c.(3106-3108)aagfs	p.K1036fs	PCDH19_ENST00000420881.2_Frame_Shift_Del_p.K988fs|PCDH19_ENST00000464981.1_5'Flank|PCDH19_ENST00000255531.7_Frame_Shift_Del_p.K989fs	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1036					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GACAGTCCTCTTGCCTTTCAG	0.597																																						uc010nmz.2		NA																	0				ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(3106-3108)AAGfs		protocadherin 19 isoform b							70.0	70.0	70.0					X																	99551615		2144	4221	6365	SO:0001589	frameshift_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99551615delT	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.3107delA	X.37:g.99551615delT	ENSP00000362125:p.Lys1036fs					PCDH19_uc004efw.3_Frame_Shift_Del_p.K988fs|PCDH19_uc004efx.3_Frame_Shift_Del_p.K989fs	p.K1036fs	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			6	4783	-			1036			Cytoplasmic (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Frame_Shift_Del	DEL	ENST00000373034.4	37	c.3107delA	CCDS55462.1																																																																																				0.597	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		28	40	NA	NA	NA	NA	28	40	---	---	---	---
